question
stringlengths
84
268
answer
stringlengths
6
879
reference_sequence
stringlengths
4.1k
4.1k
mutated_sequence
stringlengths
4.1k
4.1k
cleaned_pathogenicity
stringclasses
2 values
__index_level_0__
int64
67
343k
A genetic variant on chromosome X, position 64920232, affects the gene ZC4H2 (zinc finger C4H2-type containing). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Inborn_genetic_diseases', 'Wieacker-Wolff_syndrome']
ACTTAAGGACTATTTAATTTTCTAGAACAGGGGTCAACAAACATTTTCTGTAAAGGCCAGGACAGCAAATACTTTAGACTTTTTACATCATATAAACTTGCTGCAACTACTCAATTCTGTTTTGCATGAAAGAAGTGATAGACAATAGCTTGCATGCATGTTGTTTGCAATAGCTTGCAAACACAGACATGCATGTGGGCCAATAAAACTTTAACGAAAACAGGGAACAGATTAGATTTGACCTGTAGGCTGTAATTTGATGACCCCTGCTCTAGAAGAATGTCTCTTTGTTTGACTATTTACCAATTGATTAGGACCCAGGCTCTGTGATGTTACACTGATAAGCTGCAAATGGCTTTTGCCCAGTAGAGATGCAAATTACTTCTGTTTGGAAGAAAAAGTAACTATAAAGTTACAGTTTTATTGTCCTGTGGGATGTAAACCAGTTTTGCATCTAACTTTGCAAATTTGTTTCAGCCTTCCTCTCCTTTCTTGACTATATAGATATTTGTTCCAAATGCTCCTGGAACCAGCTTTATAATCCTGCTGGTTCCCTCATTTATGATACATGCTCATTACATCTTTGTGTAAGAGTCATTTCTAACTTTTAGAATTGCACTCTAGCAGGGCCTGAAAATCTCCCTGCATTCTAACACCTCTGGGAACATGGGGCAACAAAACCTGTGCTGTGTGTGTCCAACACAGCACACCCATGTCACCCCTTCCACTGTGTCACAAGCAAAGGCCATTAAAAGAAGGCCCAGCATAAATAAAGCCAAAGACCCAGAACTAGCCTTCCACGGCCCTTCCATGGGAGGATACTTTGCTTCCTCCACAACCATTACCCAGCTCACTTACCTTCATAGGTGGGGGCTGCTGCCTGAAGGTGGCCGTCTGCCGAGTATCCTGCTTCCTAGCCACTTGGAGCTGTTGGGCGGCAGCGGCTGCAGCGGCCAGGGACTCAGGGATGGGGGGCTCCTGAGGTTCTGTCTGCCATTCTGCTTTCTGCTTCTCAAAGTAACTTTGGAGATGAGAGACACTGGCTAGATCATTCTGAAAGCAATGAGAACCTTGCTCCTCTTAAAGACTCCATGCCATACAACCAAGGGTTGAGCTGTGGCTCATTCTAGAAGGTCCCCACACCTTCCCAAGCACAAGGCTATTGTCCCTGGGTACTAGGCCCAATGTCTGATGAGAAGGGTAATCCTCTTTGTCCTTAGCTCTGATAGGCCAAGAAGACCAAGAAATCTTAGGGCTAGCAAGATCCTTAAAGGGTATTCAGTCCTATCTGCTATCTCATGCTCTTTTGAGTATTCCTATTAAGTGTCCTAAGGCCTCTGGTGACATATCTCTAAGAGTAGGAAGCTCACAAACTCCACAGACACCTTGCTCTACCTTTAGGAAATGATTTCCTCTACCAGGTCAAATTCTGTCTCTCTGCAAGGCAAGCCTAGTTCTTAACTCTGAGCCAGGAGATGAAGTAAGTCCCAGGCCACTTCCTGAAGACCAGGAAAGCTCAGTCTTTTTTGTTTTTAGAGGTTTCTAGATATCGCCTTCTAGACCCTGACTTGGGAAATGATCTCTTAAGAGTTATAGACATAGTCTTGTATTGTCAATATCACACAAAGAATTTAAAAAGCCACCTAGTAGTTGTTCTAATTCATCTAGTAATTCATCCAGTTTAATAATCCTCCTTCTGTTTTAACAAGCTGGCACAGAGACTTGCCCAAGATCACACAGTGAGTAAGCCACTGAAAGGCCTGGGACTAAAACTAGGCACTCTGACTTTCAGGCTAGGCTTTGTGTATGTATACCTGCCCGTGTGTGTGTAGGTATGTAAGTATGTATGTGGGTCGGAGGGAGGGTATGTTGTAGGGACTGGGGGCAGGTAGCTTACTCCAAGGAAAGCTTCTCCTCTTCTTCACACAAGTCAGGGAGCCTCTGCAGGCCCAGAGTCATGCGCAGGGCATCCACATGTTCTTTCAGTGGCTTATACTCATCATGCAGCCTCCTTGTAGACTCTAGCAGCTTGTTTAGGTCATTCTCAGATTGTTTGATAGTGTTTTCCATCTGGAACATAGAGTGGGATAGGCACAGAGAAAAGATCCTAAGGTTCTCAGAGAGGATCTATAGCTGAGTGAATAATAGCACAAGCTCCAGAACTTGTTCAGTCTATATTCAAGTCCTTGATCTCCCATGCCCTCTCCATGTAACTCTGGTCAAGTCTCAGTTTCTTCATCGGTATAATGGTGATATTCTAGTGCTTAACTCATGCAATCTTGGTGAAGATGTAATGATAGGATTCATATAAAGCACTCAGTAAATGGGCTAAATTAATATTTACTGCTAAATAAATGGTATTGTTCAAATATAGTATCTTAGAGCTGGAATGTCCTTCAGAGCTCATTTAGTCCACCTTACTCCCATTTTATAGAAAACTGAGGCTCAAAGAGAAAAAGGGACTTTCCTGGGGAAATACTTCTTAGTATCAAATCCTGCATAAAGACTTAGGGCTTCCGCCTCCCAGGCCAGCAGTCTTTTCTCCTAGATCAGTGATTCTCAAAATGTGGCCAAGGGATCAGCAGCATCAGCATCACCTGGGAACTCAGAAATGCATATTCTTAGGTTCACCTCAGACATACAAAATCAGAAAATCAGGGGTGGAGTCTAGCAATATGTGTCTTAGGCTCTCAAAGTGGCTTTGATGCATGCTCAAGTTTGAGATCCACTGGCTTATATTCTTAGCCCTTCTGGCAAATATCTTCCTCATTTAACTGGCCCTGTATCATTGGTTAGCTGGCAGCCAAACTGTCAACACTTTATGAGATCTAGAATTCTGCGATCTCTAACACAGAAAATCCCAATTGCTTACTGTCCAAACCTCATTCATATTTCCTTTATGATCCTAGGTCTGACAACATCAGAAAATGAGTATTGCCACAGAAATGAGTTTTCCAGAAATATAAACTTAGTTCCTTTGAAAGTAAATTTTAAAAATATATTCTTCATGGTTATGGGTGATAAGGGTTTGAAAAGACCTTACTGGTCAGCACTGCCAACCTCCTTCCTTGTGAAGGAATCATCAGTACAGTAGCTCATACAAGTGTCCATTAAGATGCTGCTTGAATAATTCCAAAGAGGGGAGCTTACCACCTTAGCAGACAGTTCATATTCTGTGTTCCAAGAGTTTCCAAAGGATATATCAATGAGGAAGCTCCACTTTGGTAGCAGGCAGAAATGATTTGTTTGGTCTGACTGAAAGCTTGGAGTGCTTTAAACTACATTCCAGAGGCAGCTGCCTGCTCTGCTTTTCCCCAAGGCTAGCTCTCAACTCCCAGAATCCCAGAATGAGAGCACATCAAATCAGTACATTTAGAGGGTACTGAGTCCCCCTTATAGTGCAGAGAGGGAAAATGAGGCCCAGAGAGAAGGGACTTGTCCAGTGATATATAGTCAGTTAGTGACAGAGCCAGGGCTGGATCTCAGAACTCCTGAATTCTTCTGCTCTACCACAGCCTGCACTGATGCCTGCTCCCCGAGCTAGGCCTAAGCCACATCTCAAGGAAAGGCCCTATCATTCACCACTACCTCTTTCTCAAAGGCTTTAGAGATAGGCTCCAGGCAGCCACGTACCACATTGATGTCAGCGTGGATCAGTCGGAGTTCCTCCACATGGGCCATCTTCTCCTGTAGCAGAAGGTCCATCTCCTGCTTGTATTCCTTCAGGTGCCTTTCCTCTGACTCAAGTGCCTCAAACTCAGCCTTCAAACGAGCCTTGATCTTCTCCATCTGCAGGGTCTTGTTCCTGCAATTTGCAAAAAGCAGGAAACAGGCCAGCAAAAGAAGGGAGAAAATAGAAATGGAGCCAGGACTTTTTTTCTAAGCCATCTTTACAAGCTTCCCCCTCTCCAGGCAGAGCCAACCTGAGGCCATCTCAAAAAAGAAGGCCAGGTGCAATGGCTCATGCCAGTAATCTCAGCAATTTGGAAGACAGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCATGGGCAACATAGTGAGACCTTATATCTACAAAAAAAAAAAAGAAAAAGAAAAAAGAAAAAA
ACTTAAGGACTATTTAATTTTCTAGAACAGGGGTCAACAAACATTTTCTGTAAAGGCCAGGACAGCAAATACTTTAGACTTTTTACATCATATAAACTTGCTGCAACTACTCAATTCTGTTTTGCATGAAAGAAGTGATAGACAATAGCTTGCATGCATGTTGTTTGCAATAGCTTGCAAACACAGACATGCATGTGGGCCAATAAAACTTTAACGAAAACAGGGAACAGATTAGATTTGACCTGTAGGCTGTAATTTGATGACCCCTGCTCTAGAAGAATGTCTCTTTGTTTGACTATTTACCAATTGATTAGGACCCAGGCTCTGTGATGTTACACTGATAAGCTGCAAATGGCTTTTGCCCAGTAGAGATGCAAATTACTTCTGTTTGGAAGAAAAAGTAACTATAAAGTTACAGTTTTATTGTCCTGTGGGATGTAAACCAGTTTTGCATCTAACTTTGCAAATTTGTTTCAGCCTTCCTCTCCTTTCTTGACTATATAGATATTTGTTCCAAATGCTCCTGGAACCAGCTTTATAATCCTGCTGGTTCCCTCATTTATGATACATGCTCATTACATCTTTGTGTAAGAGTCATTTCTAACTTTTAGAATTGCACTCTAGCAGGGCCTGAAAATCTCCCTGCATTCTAACACCTCTGGGAACATGGGGCAACAAAACCTGTGCTGTGTGTGTCCAACACAGCACACCCATGTCACCCCTTCCACTGTGTCACAAGCAAAGGCCATTAAAAGAAGGCCCAGCATAAATAAAGCCAAAGACCCAGAACTAGCCTTCCACGGCCCTTCCATGGGAGGATACTTTGCTTCCTCCACAACCATTACCCAGCTCACTTACCTTCATAGGTGGGGGCTGCTGCCTGAAGGTGGCCGTCTGCCGAGTATCCTGCTTCCTAGCCACTTGGAGCTGTTGGGCGGCAGCGGCTGCAGCGGCCAGGGACTCAGGGATGGGGGGCTCCTGAGGTTCTGTCTGCCATTCTGCTTTCTGCTTCTCAAAGTAACTTTGGAGATGAGAGACACTGGCTAGATCATTCTGAAAGCAATGAGAACCTTGCTCCTCTTAAAGACTCCATGCCATACAACCAAGGGTTGAGCTGTGGCTCATTCTAGAAGGTCCCCACACCTTCCCAAGCACAAGGCTATTGTCCCTGGGTACTAGGCCCAATGTCTGATGAGAAGGGTAATCCTCTTTGTCCTTAGCTCTGATAGGCCAAGAAGACCAAGAAATCTTAGGGCTAGCAAGATCCTTAAAGGGTATTCAGTCCTATCTGCTATCTCATGCTCTTTTGAGTATTCCTATTAAGTGTCCTAAGGCCTCTGGTGACATATCTCTAAGAGTAGGAAGCTCACAAACTCCACAGACACCTTGCTCTACCTTTAGGAAATGATTTCCTCTACCAGGTCAAATTCTGTCTCTCTGCAAGGCAAGCCTAGTTCTTAACTCTGAGCCAGGAGATGAAGTAAGTCCCAGGCCACTTCCTGAAGACCAGGAAAGCTCAGTCTTTTTTGTTTTTAGAGGTTTCTAGATATCGCCTTCTAGACCCTGACTTGGGAAATGATCTCTTAAGAGTTATAGACATAGTCTTGTATTGTCAATATCACACAAAGAATTTAAAAAGCCACCTAGTAGTTGTTCTAATTCATCTAGTAATTCATCCAGTTTAATAATCCTCCTTCTGTTTTAACAAGCTGGCACAGAGACTTGCCCAAGATCACACAGTGAGTAAGCCACTGAAAGGCCTGGGACTAAAACTAGGCACTCTGACTTTCAGGCTAGGCTTTGTGTATGTATACCTGCCCGTGTGTGTGTAGGTATGTAAGTATGTATGTGGGTCGGAGGGAGGGTATGTTGTAGGGACTGGGGGCAGGTAGCTTACTCCAAGGAAAGCTTCTCCTCTTCTTCACACAAGTCAGGGAGCCTCTGCAGGCCCAGAGTCATGCGCAGGGCATCCACATGTTCTTTCAGTGGCTTATACTCATCATGCAGCCTCCTTGTAGACTCTAGCAGCTTGTTTAGGTCATTCTCAGATTGATAGTGTTTTCCATCTGGAACATAGAGTGGGATAGGCACAGAGAAAAGATCCTAAGGTTCTCAGAGAGGATCTATAGCTGAGTGAATAATAGCACAAGCTCCAGAACTTGTTCAGTCTATATTCAAGTCCTTGATCTCCCATGCCCTCTCCATGTAACTCTGGTCAAGTCTCAGTTTCTTCATCGGTATAATGGTGATATTCTAGTGCTTAACTCATGCAATCTTGGTGAAGATGTAATGATAGGATTCATATAAAGCACTCAGTAAATGGGCTAAATTAATATTTACTGCTAAATAAATGGTATTGTTCAAATATAGTATCTTAGAGCTGGAATGTCCTTCAGAGCTCATTTAGTCCACCTTACTCCCATTTTATAGAAAACTGAGGCTCAAAGAGAAAAAGGGACTTTCCTGGGGAAATACTTCTTAGTATCAAATCCTGCATAAAGACTTAGGGCTTCCGCCTCCCAGGCCAGCAGTCTTTTCTCCTAGATCAGTGATTCTCAAAATGTGGCCAAGGGATCAGCAGCATCAGCATCACCTGGGAACTCAGAAATGCATATTCTTAGGTTCACCTCAGACATACAAAATCAGAAAATCAGGGGTGGAGTCTAGCAATATGTGTCTTAGGCTCTCAAAGTGGCTTTGATGCATGCTCAAGTTTGAGATCCACTGGCTTATATTCTTAGCCCTTCTGGCAAATATCTTCCTCATTTAACTGGCCCTGTATCATTGGTTAGCTGGCAGCCAAACTGTCAACACTTTATGAGATCTAGAATTCTGCGATCTCTAACACAGAAAATCCCAATTGCTTACTGTCCAAACCTCATTCATATTTCCTTTATGATCCTAGGTCTGACAACATCAGAAAATGAGTATTGCCACAGAAATGAGTTTTCCAGAAATATAAACTTAGTTCCTTTGAAAGTAAATTTTAAAAATATATTCTTCATGGTTATGGGTGATAAGGGTTTGAAAAGACCTTACTGGTCAGCACTGCCAACCTCCTTCCTTGTGAAGGAATCATCAGTACAGTAGCTCATACAAGTGTCCATTAAGATGCTGCTTGAATAATTCCAAAGAGGGGAGCTTACCACCTTAGCAGACAGTTCATATTCTGTGTTCCAAGAGTTTCCAAAGGATATATCAATGAGGAAGCTCCACTTTGGTAGCAGGCAGAAATGATTTGTTTGGTCTGACTGAAAGCTTGGAGTGCTTTAAACTACATTCCAGAGGCAGCTGCCTGCTCTGCTTTTCCCCAAGGCTAGCTCTCAACTCCCAGAATCCCAGAATGAGAGCACATCAAATCAGTACATTTAGAGGGTACTGAGTCCCCCTTATAGTGCAGAGAGGGAAAATGAGGCCCAGAGAGAAGGGACTTGTCCAGTGATATATAGTCAGTTAGTGACAGAGCCAGGGCTGGATCTCAGAACTCCTGAATTCTTCTGCTCTACCACAGCCTGCACTGATGCCTGCTCCCCGAGCTAGGCCTAAGCCACATCTCAAGGAAAGGCCCTATCATTCACCACTACCTCTTTCTCAAAGGCTTTAGAGATAGGCTCCAGGCAGCCACGTACCACATTGATGTCAGCGTGGATCAGTCGGAGTTCCTCCACATGGGCCATCTTCTCCTGTAGCAGAAGGTCCATCTCCTGCTTGTATTCCTTCAGGTGCCTTTCCTCTGACTCAAGTGCCTCAAACTCAGCCTTCAAACGAGCCTTGATCTTCTCCATCTGCAGGGTCTTGTTCCTGCAATTTGCAAAAAGCAGGAAACAGGCCAGCAAAAGAAGGGAGAAAATAGAAATGGAGCCAGGACTTTTTTTCTAAGCCATCTTTACAAGCTTCCCCCTCTCCAGGCAGAGCCAACCTGAGGCCATCTCAAAAAAGAAGGCCAGGTGCAATGGCTCATGCCAGTAATCTCAGCAATTTGGAAGACAGAGGCAGGAGGATCACTTGAGCCCAGGAGTTTGAAACCAGCATGGGCAACATAGTGAGACCTTATATCTACAAAAAAAAAAAAGAAAAAGAAAAAAGAAAAAANNNN
pathogenic
335,212
Variant in ZC4H2 (zinc finger C4H2-type containing), chromosome X, position 64976354—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Wieacker-Wolff_syndrome']
CTGAGATTTTCTACATTATCATTTGTTTCAAGTGTATTGTAACTGCTCACTGAAATGTTTTTAGGACAGGTGCTTTAAGATCCTTATCAGATAATTCTAACATGGGTGTTATCTCAGTATTGGCATCTGTTTATTTTCTCTTCTCATTCAAGTGGATATCTTAGTATGGAAAGTGATTTTTGATTAAAAGTTGGATACTCTGGATCTTATTTAAATCTTTTGTTTTAGCAGTCCTCTACCACTCTCTTGGATGGAAGAGGGACAGTAGAAGTCCAGTTTCTCCACTGTCTCTTGACATCCAGTTTGGAGAAGGGCTGTTTGTTACTGCTGTTTAGAGGTGAAAGTTTGGCCTTCTCTCTGGGCCTATGCTGATTCCATCCTAGCTGGTTGAGGTAGAAACTCCTAGTTACCACTGGTAAGGGTAGAAGTCATGGTTCTCCATATGGTCTTCACTGGGAGAGGTCTATTTTCACTGGGGATTAAAGTCCTTGCTCACAACTGGTCCTTCTCTGGGCATGGGGTGGTGGTTCCTTTGAAGCTTGGTGAGAGTGGAAGTCTAGGCTCTCCATTTGCAAGCCTAAGCTTCTGACTAGCTGCATCGTTATGACAGCTGGCATTCTACTGTACTAAGGTGTCTCACTTTCTAGCTAGCTTCTGATGCTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAATTGCAACATATTCCCTTCTCCTTTCCAGACTTTACCTGGGACATAGTGGGAAAAGGAATACCTTTGCAGGCAGACCAACAAAATGTGGCAATTTCAAGCTGCGTGGCTGTGGGAAAATCACTCAAATTCTCTGGGCCTCTATTTCCCCAGCTGTAAAGGAGGAGTAGGAAGCTCACAGGACTCTTGCTGAATGAGCAAAAGTAGGTCAAAGGGCCTGGCACACAGGGGCGGGAAGGGACTCAATAAATGATAGTTCCCTTCCTTTACCTCTCCTGTAGAAAGAGAGATGCAACCCCTCAAGAAGAAGAAGAAACCAAGGTGCTTTACCTACCACCACTAATCACCATGTGTAGGTCTCATCCAGCACTCTAAGGGTTAAATCTCATGATCAAAGTCTTATTTCTTAAAGAAACACACTTGACATCTTCCACCTTGGGTTCTCAGAAAACACTCCAGGGAGAGAGCTTGACCCAGGCCACTCTCAGAGTGAGAGCAAAAGCCAAAGCAGGGGCTCACGCTGAGAAGGCGAGGTGAAGAAAGACCTTGTGCCAGCCCACACAGCCCGCCTGGCGCTATTGTGTTCTGAGCAAGGACAATATCATCGCTTTGCCAAAAGCTGCTCCAGGAGCAACCGTGTAGCGGACTCCACTTCGGCAACTCCCACTTTGCCAGCCCGCCTGTCACCTCCAGCTCCTCAGAGCAGCTGTCGCGATCCCACCATCAGCGCAGCGACCGCGTCCCCAGTCCCCATTGCTCCCATCCCCCTCCCAAGCGCGGGATAGGAAGGAAGAAAGTGGCGAGTGAGTGAAAGGAAAACGAGCGCGCGCCATTCTCCCAGCTCCGCCCGCTGAGATTCCTCTGCAACCCCCAGTTGGCAGCCCCTGGCAGCAGCCACCAGCCCCGATGCGCTAGACTTGGCTCTCAAAAGCCTTTCCCGAACTCCAGGTTCTGAAGTTGAACAAGAGACTGGAAAAAAATCCCGACTCCTAAAGAGCAAGGAGCCAAAGACACCTTGGGGCACACAAGTACTTTTAAAAAACGTGTCCATGAATGCAGAGCCCTGACCTCCACCTCGAGAAGAATAAAACTGTCTTGGTACCAAACCCGTGTTTCTTCATCTTTGCTTTCTCAGCCACATCTGGCAAGAGGTCTCTCTCTCTCTCAACTCTCCTCAGCGCCCCTCCCATCCTCACCTCTCCGGCAAGTCTGTGGTGAATGGGCCCCTTTCCAGCTCCTCTAGACAAACAGCCCAACAATAGATAATTAGCCCTCTCCCGCAACGAAGGGTTGGAGAGGGGCGGGGAGGGGGACAACGTGCCACTTACCTGATCTCTTTAATGCTTTCCAATTTGCACATGATTTCTTGCTCATCTGCCATACTTTTCACTGTCAATTTCACGTCCCGAGAGATGTACAAATACACCAGCCAAGGGATACAATAGACACAATGTAGCCACCTCCTCCGGGCTTGGGGCTATGAGCCTGTGCGGTAGGGGCTTGGAGAGGCCTGGGAGCTGTAGTCCGGAGCTTCAGGGCCAGCCAGGAAGCCCGGGGGCCTGTAGGACTACAACTCCCAGAAGGCCAAGCGAGACATGCCTGTTTCCCTTCCTGCAGCCGCACTTTAAATCAATTTGTTATAGATAATTATGTCAAAGGTTGTGAAGAGTGCAAAGGAATGGGGATATTCGTCTGGCCCGTGTGTGGGAAAATGGAGAAAAAAATATTCCTGAAGGCAATTGGAGAGATGAGAGACATACCCATTCGCTCCCTTCGGGGGCCCTCGCACCTACCCACCCGCAAAAGATTAGCGGTAGTCGCTAATTACGCCTTGGGGATGGAAAGAAACCCTGCAGGGAAAGTAGCTTTGGAGACGTTGAATGTGCTAGCTGCTGCCTGGGGACCAGTAACTTTGGCATTCAATTTAGGGTGGGGCGGGGGTGGGGAAGAGGAGGATGGGAGGAGGGAGATGCTGCAAAAGCTGGGGGAAAGGAGAGTGGGTAAGTACTTCCAGCTACTTACCCATTCAACAAACAATTACTTAAGCTCGGACTTTGCCAGTCAATGGAAGAAGTACTGTAGGAGTCACCGGGCAAGGCAGATAAATAAAAGCAAATCCTTGCCTTTGAGGAACAGAAGAGGCTGAAAATTTACCTATTAATTACAGTACAGTGTGGTGTCAAAATACAGGAATAGATAAGGTGTAACCTGTGCAGAGAAGATGTAAATAGGTCTCAAGAGTGACTAAGAATTTGTCAGACCATAGAGGAGAATGGGCTCTCCAGGTGAGGATACAATAGAGAGAGAAAGGAAAGGATGAGTGGTTCAGAGTGCCTGAAATATAGGTTTCTTATATGAGGTGTAGAGGTGGAAAAAAGAAATGGGAGATGTAGTATTTAGAAAAGGCAGGTAGGAACCAGACTATGAAATACGTTAAATGTCAGACTAAAGGGTTTGGACTTAATCCTGTAGGCAGACATTTATCTAATAAACTTTTAAATTAATTAATTTATTTATTTATGAGACAGTCTCACTCTGTCGCCCAAGCTGGCGTGTAATGGCACAGATCTCGGCCCACTGCAACCTCCTTCTCCTGGGTTCAAGCAATTCTACTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCCACCCACCATGCCCGGCTAATTTTTGTATTTCTTAGTAGAGATGGAGTTTCATCATGTTGGCCAGACTGGTCTTGAACTCCTGAGCTCAAGCAATCCACCCGCCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCTAATAAACATTTTTTAAGTGCTTATTCTGCACCAAGTAATGTTTAATTATTTTATGTTTCAAAGCACGGTAGTGATAAGGATGGAGGAATATTTTAGAGAGGGACTCTGGAAGCAAAGTGGAGAATGATTAGAGGACATGAGACCAGGTAAGAGGCAGTTACTCAGCGTGCACAAACAGGCCTAGAGAGCTGGACGTTGGGCAAAAGGAAGATGGTGACTCACTCCCAACTAAAAGTGAGTCAGAACTCTCTCTGAGTTTGTGCTTTCTTTTATTGAGCTTCAGTTTCCTCATCTGAAAAATGTACCTAGTGAGCCCACCTCAGAGGCTTGTTGGGAGGCCTCTATGAGATCATTCCCATGATCATGCTGAATACAGGGCTTGGTATTTTGTAGGAGCTTGAGAAGTTTGTGGAACATGAATCTCATGTCATTCTGGATGTCCACAGTGATTTTAAGCATTCTCCAGGGAAGAAATTAAAGCCCTTCTCTTCTTTGGATCCAAGATGTAATAACTTTCTTAACCATAAAATTCTCCCTGGTGTCTACATTTTCCTATTGTCTTGAAGGTTGCTATCTTGTACAGCCACTAGTTGGTATT
CTGAGATTTTCTACATTATCATTTGTTTCAAGTGTATTGTAACTGCTCACTGAAATGTTTTTAGGACAGGTGCTTTAAGATCCTTATCAGATAATTCTAACATGGGTGTTATCTCAGTATTGGCATCTGTTTATTTTCTCTTCTCATTCAAGTGGATATCTTAGTATGGAAAGTGATTTTTGATTAAAAGTTGGATACTCTGGATCTTATTTAAATCTTTTGTTTTAGCAGTCCTCTACCACTCTCTTGGATGGAAGAGGGACAGTAGAAGTCCAGTTTCTCCACTGTCTCTTGACATCCAGTTTGGAGAAGGGCTGTTTGTTACTGCTGTTTAGAGGTGAAAGTTTGGCCTTCTCTCTGGGCCTATGCTGATTCCATCCTAGCTGGTTGAGGTAGAAACTCCTAGTTACCACTGGTAAGGGTAGAAGTCATGGTTCTCCATATGGTCTTCACTGGGAGAGGTCTATTTTCACTGGGGATTAAAGTCCTTGCTCACAACTGGTCCTTCTCTGGGCATGGGGTGGTGGTTCCTTTGAAGCTTGGTGAGAGTGGAAGTCTAGGCTCTCCATTTGCAAGCCTAAGCTTCTGACTAGCTGCATCGTTATGACAGCTGGCATTCTACTGTACTAAGGTGTCTCACTTTCTAGCTAGCTTCTGATGCTTTTGCCAAAAAAAAAAAAAAAAAAAAAAAAAATTGCAACATATTCCCTTCTCCTTTCCAGACTTTACCTGGGACATAGTGGGAAAAGGAATACCTTTGCAGGCAGACCAACAAAATGTGGCAATTTCAAGCTGCGTGGCTGTGGGAAAATCACTCAAATTCTCTGGGCCTCTATTTCCCCAGCTGTAAAGGAGGAGTAGGAAGCTCACAGGACTCTTGCTGAATGAGCAAAAGTAGGTCAAAGGGCCTGGCACACAGGGGCGGGAAGGGACTCAATAAATGATAGTTCCCTTCCTTTACCTCTCCTGTAGAAAGAGAGATGCAACCCCTCAAGAAGAAGAAGAAACCAAGGTGCTTTACCTACCACCACTAATCACCATGTGTAGGTCTCATCCAGCACTCTAAGGGTTAAATCTCATGATCAAAGTCTTATTTCTTAAAGAAACACACTTGACATCTTCCACCTTGGGTTCTCAGAAAACACTCCAGGGAGAGAGCTTGACCCAGGCCACTCTCAGAGTGAGAGCAAAAGCCAAAGCAGGGGCTCACGCTGAGAAGGCGAGGTGAAGAAAGACCTTGTGCCAGCCCACACAGCCCGCCTGGCGCTATTGTGTTCTGAGCAAGGACAATATCATCGCTTTGCCAAAAGCTGCTCCAGGAGCAACCGTGTAGCGGACTCCACTTCGGCAACTCCCACTTTGCCAGCCCGCCTGTCACCTCCAGCTCCTCAGAGCAGCTGTCGCGATCCCACCATCAGCGCAGCGACCGCGTCCCCAGTCCCCATTGCTCCCATCCCCCTCCCAAGCGCGGGATAGGAAGGAAGAAAGTGGCGAGTGAGTGAAAGGAAAACGAGCGCGCGCCATTCTCCCAGCTCCGCCCGCTGAGATTCCTCTGCAACCCCCAGTTGGCAGCCCCTGGCAGCAGCCACCAGCCCCGATGCGCTAGACTTGGCTCTCAAAAGCCTTTCCCGAACTCCAGGTTCTGAAGTTGAACAAGAGACTGGAAAAAAATCCCGACTCCTAAAGAGCAAGGAGCCAAAGACACCTTGGGGCACACAAGTACTTTTAAAAAACGTGTCCATGAATGCAGAGCCCTGACCTCCACCTCGAGAAGAATAAAACTGTCTTGGTACCAAACCCGTGTTTCTTCATCTTTGCTTTCTCAGCCACATCTGGCAAGAGGTCTCTCTCTCTCTCAACTCTCCTCAGCGCCCCTCCCATCCTCACCTCTCCGGCAAGTCTGTGGTGAATGGGCCCCTTTCCAGCTCCTCTAGACAAACAGCCCAACAATAGATAATTAGCCCTCTCCCGCAACGAAGGGTTGGAGAGGGGCGGGGAGGGGGACAACGTGCCACTTACCTGATCTCTTTAATGCTTTCCAATTTGCACGATTTCTTGCTCATCTGCCATACTTTTCACTGTCAATTTCACGTCCCGAGAGATGTACAAATACACCAGCCAAGGGATACAATAGACACAATGTAGCCACCTCCTCCGGGCTTGGGGCTATGAGCCTGTGCGGTAGGGGCTTGGAGAGGCCTGGGAGCTGTAGTCCGGAGCTTCAGGGCCAGCCAGGAAGCCCGGGGGCCTGTAGGACTACAACTCCCAGAAGGCCAAGCGAGACATGCCTGTTTCCCTTCCTGCAGCCGCACTTTAAATCAATTTGTTATAGATAATTATGTCAAAGGTTGTGAAGAGTGCAAAGGAATGGGGATATTCGTCTGGCCCGTGTGTGGGAAAATGGAGAAAAAAATATTCCTGAAGGCAATTGGAGAGATGAGAGACATACCCATTCGCTCCCTTCGGGGGCCCTCGCACCTACCCACCCGCAAAAGATTAGCGGTAGTCGCTAATTACGCCTTGGGGATGGAAAGAAACCCTGCAGGGAAAGTAGCTTTGGAGACGTTGAATGTGCTAGCTGCTGCCTGGGGACCAGTAACTTTGGCATTCAATTTAGGGTGGGGCGGGGGTGGGGAAGAGGAGGATGGGAGGAGGGAGATGCTGCAAAAGCTGGGGGAAAGGAGAGTGGGTAAGTACTTCCAGCTACTTACCCATTCAACAAACAATTACTTAAGCTCGGACTTTGCCAGTCAATGGAAGAAGTACTGTAGGAGTCACCGGGCAAGGCAGATAAATAAAAGCAAATCCTTGCCTTTGAGGAACAGAAGAGGCTGAAAATTTACCTATTAATTACAGTACAGTGTGGTGTCAAAATACAGGAATAGATAAGGTGTAACCTGTGCAGAGAAGATGTAAATAGGTCTCAAGAGTGACTAAGAATTTGTCAGACCATAGAGGAGAATGGGCTCTCCAGGTGAGGATACAATAGAGAGAGAAAGGAAAGGATGAGTGGTTCAGAGTGCCTGAAATATAGGTTTCTTATATGAGGTGTAGAGGTGGAAAAAAGAAATGGGAGATGTAGTATTTAGAAAAGGCAGGTAGGAACCAGACTATGAAATACGTTAAATGTCAGACTAAAGGGTTTGGACTTAATCCTGTAGGCAGACATTTATCTAATAAACTTTTAAATTAATTAATTTATTTATTTATGAGACAGTCTCACTCTGTCGCCCAAGCTGGCGTGTAATGGCACAGATCTCGGCCCACTGCAACCTCCTTCTCCTGGGTTCAAGCAATTCTACTGCCTCAGCCTCCCGAGTAACTGGGATTACAGGCGCCCACCCACCATGCCCGGCTAATTTTTGTATTTCTTAGTAGAGATGGAGTTTCATCATGTTGGCCAGACTGGTCTTGAACTCCTGAGCTCAAGCAATCCACCCGCCTCAGCCTCCCAAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCTAATAAACATTTTTTAAGTGCTTATTCTGCACCAAGTAATGTTTAATTATTTTATGTTTCAAAGCACGGTAGTGATAAGGATGGAGGAATATTTTAGAGAGGGACTCTGGAAGCAAAGTGGAGAATGATTAGAGGACATGAGACCAGGTAAGAGGCAGTTACTCAGCGTGCACAAACAGGCCTAGAGAGCTGGACGTTGGGCAAAAGGAAGATGGTGACTCACTCCCAACTAAAAGTGAGTCAGAACTCTCTCTGAGTTTGTGCTTTCTTTTATTGAGCTTCAGTTTCCTCATCTGAAAAATGTACCTAGTGAGCCCACCTCAGAGGCTTGTTGGGAGGCCTCTATGAGATCATTCCCATGATCATGCTGAATACAGGGCTTGGTATTTTGTAGGAGCTTGAGAAGTTTGTGGAACATGAATCTCATGTCATTCTGGATGTCCACAGTGATTTTAAGCATTCTCCAGGGAAGAAATTAAAGCCCTTCTCTTCTTTGGATCCAAGATGTAATAACTTTCTTAACCATAAAATTCTCCCTGGTGTCTACATTTTCCTATTGTCTTGAAGGTTGCTATCTTGTACAGCCACTAGTTGGTATTNN
pathogenic
335,216
Chromosome X, position 67545306, gene AR (androgen receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
benign
CATACAAAGCAAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGG
CATACAAAGCAAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGNNN
benign
335,246
Evaluate if the mutation on chromosome X at position 67545316 in AR is benign or pathogenic. Disease name(s) if pathogenic?
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCT
benign
335,248
Determine if the mutation at chromosome X, position 67545316 in gene AR is benign or pathogenic. If pathogenic, what disease(s) is associated?
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTT
benign
335,249
Considering the genetic mutation at chromosome X, position 67545316, impacting AR: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGG
benign
335,250
Variant at chromosome X, position 67545316, gene AR: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAAC
benign
335,251
A genetic alteration at chromosome X, position 67545316, in gene AR—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGA
benign
335,252
Variant at chromosome X, position 67545316, gene AR: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCC
benign
335,253
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 67545316, gene AR: what disease(s) if pathogenic?
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTC
benign
335,254
Is the chromosome X, position 67545316 variant in AR clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCT
benign
335,255
Evaluate the clinical significance of the mutation at chromosome X, position 67545316 in gene AR: benign or pathogenic? What disease(s) does a pathogenic variant suggest?
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGA
benign
335,256
A genetic variant at chromosome X, position 67545316, affecting gene AR—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNN
benign
335,257
Is the chromosome X, position 67545316 variant in AR clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNN
benign
335,258
Variant at chromosome position 67545316, chromosome X, gene AR: benign or pathogenic? If pathogenic, what condition(s) does it relate to?
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNN
benign
335,259
Variant on chromosome X, at position 67545316, affecting AR: is it benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNN
benign
335,260
Determine whether the variant at chromosome X, position 67545316, in gene AR is benign or pathogenic. If pathogenic, identify the relevant disease(s).
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNN
benign
335,261
Is chromosome X, position 67545316, gene AR variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNNNNN
benign
335,262
A genetic alteration at chromosome X, position 67545316, in gene AR—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNNNNNNNN
benign
335,263
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 67545316, gene AR. What disease(s) is it linked to if pathogenic?
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNNNNNNNNNNN
benign
335,264
Does the chromosome X mutation at position 67545316 within gene AR classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNNNNNNNNNNNNNN
benign
335,265
The mutation impacting AR on chromosome X at position 67545316: benign or pathogenic? Name the associated disease(s) if pathogenic.
benign
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCA
AAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAAGGCAGAGAAGAGGGTAGAAATGACCTCTGATTCTTGGGGCTGAGGGTTCCTAGAGCAAATGGCACAATGCCACGAGGCCCGATCTATCCCTATGACGGAATCTAAGGTTTCAGCAAGTATCTGCTGGCTTGGTCATGGCTTGCTCCTCAGTTTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGCACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
benign
335,266
Clinical significance of chromosome X, position 67546514, gene AR (androgen receptor): benign or pathogenic? Name the disease(s) if pathogenic.
benign
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGAT
benign
335,280
Does the variant on chromosome X at location 67546514 affecting gene AR (androgen receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
benign
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCAT
benign
335,281
Benign or pathogenic: chromosome X, position 67546514, gene AR (androgen receptor) variant? Disease(s) if pathogenic?
benign
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACC
benign
335,282
Gene AR (androgen receptor) variant at chromosome position 67546514 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNN
benign
335,283
Gene AR (androgen receptor) variant at chromosome position 67546514 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNN
benign
335,284
The mutation in gene AR (androgen receptor) at chromosome X, position 67546514—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNNNNN
benign
335,285
Is the variant located on chromosome X at position 67546514, gene AR (androgen receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked.
benign
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNNNNNNNN
benign
335,286
Considering the variant on chromosome X, location 67546514, involving gene AR (androgen receptor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
benign
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNNNNNNNNNNN
benign
335,287
Is the genetic mutation found on chromosome X at position 67546514, within the gene AR (androgen receptor), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNNNNNNNNNNNNNN
benign
335,288
Evaluate this variant at chromosome X, position 67546514, gene AR (androgen receptor): benign or pathogenic? If pathogenic, what are the disease connection(s)?
benign
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACT
GTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTNNNNNNNNNNNNNNNNNNNNN
benign
335,289
Determine whether the variant at chromosome X, position 67546601, in gene AR (androgen receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease']
GCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTAAACCCAGACACTGGAACCTTCCATCTTCTGCATGCCTCCCCCACAACTTACTTACTTAACAGGGAAAAAACTGATGGTTCCACATA
GCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCGGAGAGAACCCTCTGTTTTCCCCCACTCTCTCTCCACCTCCTCCTGCCTTCCCCACCCCGAGTGCGGAGCCAGAGATCAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTAAACCCAGACACTGGAACCTTCCATCTTCTGCATGCCTCCCCCACAACTTACTTACTTAACAGGGAAAAAACTGATGGTTCCACATAN
pathogenic
335,296
The genetic variant at chromosome X, position 67546750, affecting gene AR (androgen receptor): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease']
CAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTACGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTAAACCCAGACACTGGAACCTTCCATCTTCTGCATGCCTCCCCCACAACTTACTTACTTAACAGGGAAAAAACTGATGGTTCCACATATTTGCTAAAAAATGTGTGCCTTCAAAGACAAAACCAAAATTTTTAGGGAATAACTATAGAGAGCAAAAGTTACTCCCATCAAGTAGACAACGAGCTTGGTGATTTTATTTCAGGTCTTAATGAAAAAAGCTTCTTTATGAGGAAGGTTA
CAAAAGATGAAAAGGCAGTCAGGTCTTCAGTAGCCAAAAAACAAAACAAACAAAAACAAAAAAGCCGAAATAAAAGAAAAAGATAATAACTCAGTTCTTATTTGCACCTACTTCAGTGGACACTGAATTTGGAAGGTGGAGGATTTTGTTTTTTTCTTTTAAGATCTGGGCATCTTTTGAATCTACCCTTCAAGTATTAAGAGACAGACTGTGAGCCTAGCAGGGCAGATCTTGTCCACCGTGTGTCTTCTTCTGCACGAGACTTTGAGGCTGTCAGAGCGCTTTTTGCGTGGTTGCTCCCGCAAGTTTCCTTCTCTGGAGCTTCCCGCAGGTGGGCAGCTAGCTGCAGCGACTACCGCATCATCACAGCCTGTTGAACTCTTCTGAGCAAGAGAAGGGGAGGCGGGGTAAGGGAAGTAGGTGGAAGATTCAGCCAAGCTCAAGGATGGAAGTGCAGTTAGGGCTGGGAAGGGTCTACCCTCGGCCGCCGTCCAAGACCTACCGAGGAGCTTTCCAGAATCTGTTCCAGAGCGTGCGCGAAGTGATCCAGAACCCGGGCCCCAGGCACCCAGAGGCCGCGAGCGCAGCACCTCCCGGCGCCAGTTTGCTGCTGCTGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAGACTAGCCCCAGGCAGCAGCAGCAGCAGCAGGGTGAGGATGGTTCTCCCCAAGCCCATCGTAGAGGCCCCACAGGCTACCTGGTCCTGGATGAGGAACAGCAACCTTCACAGCCGCAGTCGGCCCTGGAGTGCCACCCCGAGAGAGGTTGCGTCCCAGAGCCTGGAGCCGCCGTGGCCGCCAGCAAGGGGCTGCCGCAGCAGCTGCCAGCACCTCCGGACGAGGATGACTCAGCTGCCCCATCCACGTTGTCCCTGCTGGGCCCCACTTTCCCCGGCTTAAGCAGCTGCTCCGCTGACCTTAAAGACATCCTGAGCGAGGCCAGCACCATGCAACTCCTTCAGCAACAGCAGCAGGAAGCAGTATCCGAAGGCAGCAGCAGCGGGAGAGCGAGGGAGGCCTCGGGGGCTCCCACTTCCTCCAAGGACAATTACTTAGGGGGCACTTCGACCATTTCTGACAACGCCAAGGAGTTGTGTAAGGCAGTGTCGGTGTCCATGGGCCTGGGTGTGGAGGCGTTGGAGCATCTGAGTCCAGGGGAACAGCTTCGGGGGGATTGCATGTACGCCCCACTTTTGGGAGTTCCACCCGCTGTGCGTCCCACTCCTTGTGCCCCATTGGCCGAATGCAAAGGTTCTCTGCTAGACGACAGCGCAGGCAAGAGCACTGAAGATACTGCTGAGTATTCCCCTTTCAAGGGAGGTTACACCAAAGGGCTAGAAGGCGAGAGCCTAGGCTGCTCTGGCAGCGCTGCAGCAGGGAGCTCCGGGACACTTGAACTGCCGTCTACCCTGTCTCTCTACAAGTCCGGAGCACTGGACGAGGCAGCTGCGTACCAGAGTCGCGACTACTACAACTTTCCACTGGCTCTGGCCGGACCGCCGCCCCCTCCGCCGCCTCCCCATCCCCACGCTCGCATCAAGCTGGAGAACCCGCTGGACTACGGCAGCGCCTGGGCGGCTGCGGCGGCGCAGTGCCGCTATGGGGACCTGGCGAGCCTGCATGGCGCGGGTGCAGCGGGACCCGGTTCTGGGTCACCCTCAGCCGCCGCTTCCTCATCCTGGCACACTCTCTTCACAGCCGAAGAAGGCCAGTTGTATGGACCGTGTGGTGGTGGTGGGGGTGGTGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGAGCTGTAGCCCCCTACGGCTACACTCGGCCCCCTCAGGGGCTGGCGGGCCAGGAAAGCGACTTCACCGCACCTGATGTGTGGTACCCTGGCGGCATGGTGAGCAGAGTGCCCTATCCCAGTCCCACTTGTGTCAAAAGCGAAATGGGCCCCTGGATGGATAGCTACTCCGGACCTTAGGGGACATGCGGTAAGTTTTTCCTTCCAGAAATGTCGCCTTTCGGCCCAGGGCAGAGTCACTCTGTGTTCTGGGGTATCTAGCGGCTCCTACCTGCGCGAACACTCAGATTGCCCCTGGGAGAGCTCAGCAGGGTAAACCTAGAGCTCTCCCGTGGACTCCCGGCCTGCCAGAGGTTTAACCTGAGCTCTCCTAATTTCTGCTGCGTGCCCTGGGTGCTGATTCCTGCCCTCCCAGATTCTTCAACTCCCCCAACCGCCCCAAATTCTCACTACCTCCTGGTACTCGAGGTCCCAAACAGAAATCCTATTGCACGGGCCACCTTCAGAGATAAAGCTCCCAAGCCCTCCACTCTTCCTTTCCTCCTGTCCTCAAAGTCTGAGAACCTCAACAGGAATTTGGGCAATTTCTCCTCTTCAGGTCTGTTAGGATTTCACTTTCAGCCTGCGCAGATTAGAGTCAAAAAGACCGGCCCAATAGCTTCTCAGCGGGTATCCTCCAGAGAGGTAAAGTGAAATTCTCGGTTAGGGAAAGAAAGTGGTCTCTGGGTGCTGAGGTCTGCTGTGTGAAAGGGTGAACTTCTTTCTCCTGAAGCAACTGGGGACTTGCTCCAGGGCTGGAGGTCAGTAGAGATAATCCAAACCGTCATGTTTAGAGTAGGCAGAGGGGCAACTTTCTTGGTAAAGACTTCACAGGATTTGCACTCACAGTTTCTCAACGTTGGTTGACTATGTTGAAAGTAGTTGCTTGGGTCGGTTTTCTCTTGTAAAGTGTTTATTTTCTCTGTGGATTATAACAGATCCACAGCCCCCTACTTCAGGTTTGCATCAGATCTATAAAGAGGAGAATATTCTTTTAATGTACAATTTAATTAGGCTTGACTCTGACTTACAAAACTGTTGGAAAACATTTTTTTGTAAAGCATTTCCTGCTATTTCAGTGTGCTCCAAAATCTCCACTGGGGAGGGTGGAGTGAGGTTTTTTATTATATTCCTTTATTTTTAGGACATGTTTGCATTTTAGAATATGTGCAGTTAGCTCTAACAAATTGAGTAAGAACTCTTAATGACCTATGAGCCGTAATCTTACCCCAAAGTTTTAATTAGCATATGAGAAAAGTGGCAGGCAATTGCATCGTGCTTATTAAAAATTATTCCTCACCGCAGTTGTTGAGCTTCTTGGAGACCATGCTGAAGATTTTCTCCCCCAGCAAATTAAGATATTAGTTTATCTGCTGAGGGAGGACAGACTGAATTGGGGAATTAACTCCTCAGGTAGGCCAGGTGCTGATGTCCCTGTGGACTTTTGTCTTATTCTTTGTTTCTATGGCTGTTTTCTTTTACCTGTGACTTCTCCGAAATTTCTTTGTTAGCCTTAACATCTTTGTTTGGGGACTTAAATCCAGCAATTTGCCTTCTTTCACTGATGCTTTCCTTCTTACAAGGTAGATAGCACAGTGTTAGTAAAGAAAGAAAGAGGAGGGTAGGATTTCATATTATTTCGTGGGCTGTTGAAGAAACAGCTTCTTACCAGGCTTTACATTCCATTAGGTTTTTAATGTTTGACTTACAAGATTTTCAGAGGGTTCATTTGATATTGTCAAAGTCTTTTCCAGTTAATTTAGACTCTTCATTTTTGTAATGGGTTTATGCTATGGGACAAAAAAAGTATTCTTCATTTTATAAGAACAAATTTACTTGGTAGGGTTAATTTTTTTTCTAGGGCTGTCACTAGACGGTGGAGCCCCTCTTCTACTGTAAACTTTTCTTGGGGGAAAATGTCTAAGGTGCATTTTGACCTGCCATGATACTAAACCCAGACACTGGAACCTTCCATCTTCTGCATGCCTCCCCCACAACTTACTTACTTAACAGGGAAAAAACTGATGGTTCCACATATTTGCTAAAAAATGTGTGCCTTCAAAGACAAAACCAAAATTTTTAGGGAATAACTATAGAGAGCAAAAGTTACTCCCATCAAGTAGACAACGAGCTTGGTGATTTTATTTCAGGTCTTAATGAAAAAAGCTTCTTTATGAGGAAGGTTAN
pathogenic
335,300
Is the genetic mutation found on chromosome X at position 67717604, within the gene AR (androgen receptor), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease']
CAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTTGTTGGTGAGAAGAGAGAGTGTTGGTAGGGACGAGCTCTGAGGTGATGCCTTTATAACTTTAAGCATCCAACTGTTTCAAAAACTCCAGGAGAACATGGCCATGTCTGTTCTACCTGTGTATTATTGTAGACGTAGCTTCTGGGAGCCTCTGCTCTCTGAGCTTAAGGGAGGTAATTTGGAGATCATTTAATTCTCATTTTACAAAAGGAAAAAAAATTGAGGGTCTTTAGGCCATTTGTTTAGGTAATATTTCTTAAGTGCCCACTCAAATACGTGGACTGTACTAAGTACTAGGGAGGTAAAGATAAATAAGAAGATATGGTCCCTGTCTTCAAGAAGCTCCAAGTCTTGTGGGGGAGACAGACATGTATATACATAGACTTCAATGCTGTGTAATGACTGCTATAATTGGGTGAGGCTACACAAGGTGCAATGAGAATGTAAAAGAAGAATCTTTAAGCCTTCTTCTTGGATGAGTTGGGAAAGCCTTCACAGAAGAGGTAGCCTTTGAGTGAAGACTTGAAAGATGAGTAGTGTTTACCGGATGAAAGGCCTGAGAAGGAGGAATGCATTCTAGGCAAAAGTAACTGCCTGTGCAGAGATAACAGAGATATAGAGGCATGTGAGAGCGCAAGTGGCAAGAGATCAGTCTAGGTAGGCAGGTCATAAAGGGCCTATTCATGTATAATGATGGCAGTAAGATGAGGATGGCAGTAGGGTGGGAAATTAGTAGGGCCAGGGTACCTATTGAGTAGAAAAGAATGGAGAGGAAATGCCAGGCAGAAAGAGGATGGACGCAAGAGAGGGAACATGAAAGTGGTGAACAGGTGGCAGTGGCTGTCAAGACATCTCTCCATACCCTGTACACTGTATGTAATATCCATCTCCCAGGGTTGTTAGAAGGGTCAAACCAGATCGTAGCTGGAAAACAGCTTTGTGAAGTGAAAACTGCTGTTTATGTGGGGGAAATGATTGTTAAACTGCATCTTTGGAAAGGTGAAGTGATCAAGAGCACAGACCTTGGAATCTGACTGCTTTGCTTTGTAACTTGGTCTGCCAATTACTAGCTGTATGATCTTGGACAAGTTCCTTAACCTCTCTCTGACTCACTTGTACTGGTTCACAGAATGGAGATAATAATAGTACTTACCTTACTCATTGTTGTGAATGTTAAATGAGATAATATAAGTAAAGTGCTTAGAAAAGAGTTAAATGTACCCCATAAATACATACAACTATCATGTACCCAAAATTATTTTTAATTTTTTTAAAAAAGAGCAATCCAATAGCAAAAGAAAAAAAGAGTTCACTCATATAAGCAGTCAATAAGTGTTAGATTATTTTTCTCTTACAACTGACAATGCCCTTTTTGTCTCCATCATCATCTCATTTGAGCAGCTCAGGGAAGTAGGGAGGATAAGGAATATTATCCTCACCATATAGTTTGTGCTTTTCCCCACCACCCCTTAATGGCCAGCCTGGATGGTCCCTGGGGATCCTTAGGGGATGCCCGAATACCAGAGCATCTCTGCCCAACAGGGACTCAGACTTAGCTCAACCCGTCAGTACCCAGACTGACCACTGCCTCTGCCTCTTCTTCTCCAGGCTTCCGCAACTTACACGTGGACGACCAGATGGCTGTCATTCAGTACTCCTGGATGGGGCTCATGGTGTTTGCCATGGGCTGGCGATCCTTCACCAATGTCAACTCCAGGATGCTCTACTTCGCCCCTGATCTGGTTTTCAATGAGTAAGTGCTCCTGGGGCCCAGACCTCACTAAAATACAGCAGCTTGGCCAGACCTGGTTGGTGGTGATGGTGATGGGGTGACAGTGAAGCTTAGCTCATTTGATCTGCAGTTGTCGCAGCGGATGCCCCAGCCAGCCAATCCAGTATGAGGCGGCTTTGCCCTGGCTTTCAGCCAACTGGCAGGAGCCCAGGAGGATGGTGCTGAGACCACCCCTTTCACACCCAAGAACCAATCCTAGTCATATTTCTGGTCTGCTTTGCAGCTTATCTCAAAACCACATGGAAAGATTCCTCCCCTTCACATATAAAAGAGGCAGAAAGACTCTGGCTTTAAGGGCTGGAGTTTCTTGGGTTCTTTTGCTACCACCAAAGGCTACTTCTAGTCACCATTTGCTGAGCAACTAGTTTGTGCCAAGACTATGCTAGATACTTTCTAAATCCTAGCTCATTGAGTCCTCATGGTGACCTGACCTCACCTTTTTATAGATAACACTATTTTTTTATGGATGGGGAAAATCAGGCTCAGCAAAATAAAGTGACTCACCCAAAGTCACAGAGCTAGTGCCTGTTGGAGACAAGATTCAAACGTATGTCCCTGTCGATCTCAGCTCTTCTGCGTCATGGTGGTAACTGATGGGAAGGAGTACCTCTACCGCTCTCTGGCTGTGTGACCTTGGTACTGCCATTTTCCTTCCCTTAAACAGCTTTAATTAATACCTGCCCTGCCACCAGCTCCATATAACATCATGAATTTGGCCAGTGGCTCAGATTTTGGAATTACATTTTTCTCCACTAAAATCTCAGTTCTACTATTTTCTTAGTCAGCATCTTTGGGAAAGACCTTTAACTTTTCCGACCCTCAATTTCTTCATCCATTAATGATAACAGAACCTTCATAAGTAATTTCTTATGATAACTAAATGGGAATTGACAGATGTGGAATGTCTGGCCCATAGTAGGCAAGAAGGAAAAAAAAAGTCCCTTTCTGATTCACCCTTTCCCTAATAGTGATACATTTTTTTTCCCCGAGATGGGGTTTTGCTCTGCCACCCAGGCTGGAGGGCAGTGGCGCAATGATCTCAGCCCAGTGCAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCGTGTCCATCTAATTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGCCCGCCTCAGCCGGGCATGATAATCTTTTCTATGTCTGCTGTATGAGGTCCCTCGATGGCATTGTGAATGGAGCTGGCCAGAGAAATCTTCCCAAGGACCTTGAGCTAGTCTCACCACAGAGAATCCTTCCAGTCAGGACAGGAATTGACCTTCCCCCCTCTTCAGCCCTCTAACCCAGAAGAGTCTTAAAATAAAATCTACAGGCCAATGGTTCCTTCCAGTACAGCACTGCAATGCGAGGGAGAGTGAGCGTCCCCAGCTGCCCTCTCCCAACCCTGCCAGCCTGGTAGCCAAAAGCTAAGAATAACCACTAGGCTTTTGGCACAAACTGCTTTGTGGTTTTCAGATCTCCGCAAAGTTGCCTATGATGCCATCTTCTGGGGCAGGCCTTGAAAAGCCCCCTAACTGTTCATCTCCCATCCTTAAACCCCTGCTGCCCTTAAGCAGTTGAATCAACTCCATGAGCACCTGCTCTACCTTCCCCAGAGCCCTGAGACCTTTGGAGCTTTGAAAAGTGATAATTGGTTGTTCTCTAAATCCTCATTTCCTTCTCTGCCTCTAAGTAAGCATGTGGCATCCCACCTCGGCTTCCTGGTCCAGTCTTGTTCATCTTATAAAAAGGCCTCCCTACGGGGTCAGAGGCCTAGACCCATCAAACCCAGGGCTCCTGAAACAATAGGACCCCTATTCCTCCTGTAGGAAGCCACTGTGTTAGAGCTCTCAGGGTGTCTACAAACATCTAGATAAGTGTTTCTCAACATGGATTCTGTTGACA
CAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTCTGGGATTATTGTGAGAGTTAAATTAGGTCATCAACAGGAAAGTGAGAAGTTTGATCTAAATTTGGGGAAGCATTCCTAATGAGGTATGATGACAAAATTTCAGATAATTCTGGATTTGTTGGTGAGAAGAGAGAGTGTTGGTAGGGACGAGCTCTGAGGTGATGCCTTTATAACTTTAAGCATCCAACTGTTTCAAAAACTCCAGGAGAACATGGCCATGTCTGTTCTACCTGTGTATTATTGTAGACGTAGCTTCTGGGAGCCTCTGCTCTCTGAGCTTAAGGGAGGTAATTTGGAGATCATTTAATTCTCATTTTACAAAAGGAAAAAAAATTGAGGGTCTTTAGGCCATTTGTTTAGGTAATATTTCTTAAGTGCCCACTCAAATACGTGGACTGTACTAAGTACTAGGGAGGTAAAGATAAATAAGAAGATATGGTCCCTGTCTTCAAGAAGCTCCAAGTCTTGTGGGGGAGACAGACATGTATATACATAGACTTCAATGCTGTGTAATGACTGCTATAATTGGGTGAGGCTACACAAGGTGCAATGAGAATGTAAAAGAAGAATCTTTAAGCCTTCTTCTTGGATGAGTTGGGAAAGCCTTCACAGAAGAGGTAGCCTTTGAGTGAAGACTTGAAAGATGAGTAGTGTTTACCGGATGAAAGGCCTGAGAAGGAGGAATGCATTCTAGGCAAAAGTAACTGCCTGTGCAGAGATAACAGAGATATAGAGGCATGTGAGAGCGCAAGTGGCAAGAGATCAGTCTAGGTAGGCAGGTCATAAAGGGCCTATTCATGTATAATGATGGCAGTAAGATGAGGATGGCAGTAGGGTGGGAAATTAGTAGGGCCAGGGTACCTATTGAGTAGAAAAGAATGGAGAGGAAATGCCAGGCAGAAAGAGGATGGACGCAAGAGAGGGAACATGAAAGTGGTGAACAGGTGGCAGTGGCTGTCAAGACATCTCTCCATACCCTGTACACTGTATGTAATATCCATCTCCCAGGGTTGTTAGAAGGGTCAAACCAGATCGTAGCTGGAAAACAGCTTTGTGAAGTGAAAACTGCTGTTTATGTGGGGGAAATGATTGTTAAACTGCATCTTTGGAAAGGTGAAGTGATCAAGAGCACAGACCTTGGAATCTGACTGCTTTGCTTTGTAACTTGGTCTGCCAATTACTAGCTGTATGATCTTGGACAAGTTCCTTAACCTCTCTCTGACTCACTTGTACTGGTTCACAGAATGGAGATAATAATAGTACTTACCTTACTCATTGTTGTGAATGTTAAATGAGATAATATAAGTAAAGTGCTTAGAAAAGAGTTAAATGTACCCCATAAATACATACAACTATCATGTACCCAAAATTATTTTTAATTTTTTTAAAAAAGAGCAATCCAATAGCAAAAGAAAAAAAGAGTTCACTCATATAAGCAGTCAATAAGTGTTAGATTATTTTTCTCTTACAACTGACAATGCCCTTTTTGTCTCCATCATCATCTCATTTGAGCAGCTCAGGGAAGTAGGGAGGATAAGGAATATTATCCTCACCATATAGTTTGTGCTTTTCCCCACCACCCCTTAATGGCCAGCCTGGATGGTCCCTGGGGATCCTTAGGGGATGCCCGAATACCAGAGCATCTCTGCCCAACAGGGACTCAGACTTAGCTCAACCCGTCAGTACCCAGACTGACCACTGCCTCTGCCTCTTCTTCTCCAGGCTTCCGCAACTTACACGTGGACGACCAGATGGCTGTCATTCAGTACTCCTGGATGGGGCTCATGGTGTTTGCCATGGGCTGGCGATCCTTCACCAATGTCAACTCCAGGATGCTCTACTTCGCCCCGATCTGGTTTTCAATGAGTAAGTGCTCCTGGGGCCCAGACCTCACTAAAATACAGCAGCTTGGCCAGACCTGGTTGGTGGTGATGGTGATGGGGTGACAGTGAAGCTTAGCTCATTTGATCTGCAGTTGTCGCAGCGGATGCCCCAGCCAGCCAATCCAGTATGAGGCGGCTTTGCCCTGGCTTTCAGCCAACTGGCAGGAGCCCAGGAGGATGGTGCTGAGACCACCCCTTTCACACCCAAGAACCAATCCTAGTCATATTTCTGGTCTGCTTTGCAGCTTATCTCAAAACCACATGGAAAGATTCCTCCCCTTCACATATAAAAGAGGCAGAAAGACTCTGGCTTTAAGGGCTGGAGTTTCTTGGGTTCTTTTGCTACCACCAAAGGCTACTTCTAGTCACCATTTGCTGAGCAACTAGTTTGTGCCAAGACTATGCTAGATACTTTCTAAATCCTAGCTCATTGAGTCCTCATGGTGACCTGACCTCACCTTTTTATAGATAACACTATTTTTTTATGGATGGGGAAAATCAGGCTCAGCAAAATAAAGTGACTCACCCAAAGTCACAGAGCTAGTGCCTGTTGGAGACAAGATTCAAACGTATGTCCCTGTCGATCTCAGCTCTTCTGCGTCATGGTGGTAACTGATGGGAAGGAGTACCTCTACCGCTCTCTGGCTGTGTGACCTTGGTACTGCCATTTTCCTTCCCTTAAACAGCTTTAATTAATACCTGCCCTGCCACCAGCTCCATATAACATCATGAATTTGGCCAGTGGCTCAGATTTTGGAATTACATTTTTCTCCACTAAAATCTCAGTTCTACTATTTTCTTAGTCAGCATCTTTGGGAAAGACCTTTAACTTTTCCGACCCTCAATTTCTTCATCCATTAATGATAACAGAACCTTCATAAGTAATTTCTTATGATAACTAAATGGGAATTGACAGATGTGGAATGTCTGGCCCATAGTAGGCAAGAAGGAAAAAAAAAGTCCCTTTCTGATTCACCCTTTCCCTAATAGTGATACATTTTTTTTCCCCGAGATGGGGTTTTGCTCTGCCACCCAGGCTGGAGGGCAGTGGCGCAATGATCTCAGCCCAGTGCAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTATAGATGCCCGCCACCGTGTCCATCTAATTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGCCCGCCTCAGCCGGGCATGATAATCTTTTCTATGTCTGCTGTATGAGGTCCCTCGATGGCATTGTGAATGGAGCTGGCCAGAGAAATCTTCCCAAGGACCTTGAGCTAGTCTCACCACAGAGAATCCTTCCAGTCAGGACAGGAATTGACCTTCCCCCCTCTTCAGCCCTCTAACCCAGAAGAGTCTTAAAATAAAATCTACAGGCCAATGGTTCCTTCCAGTACAGCACTGCAATGCGAGGGAGAGTGAGCGTCCCCAGCTGCCCTCTCCCAACCCTGCCAGCCTGGTAGCCAAAAGCTAAGAATAACCACTAGGCTTTTGGCACAAACTGCTTTGTGGTTTTCAGATCTCCGCAAAGTTGCCTATGATGCCATCTTCTGGGGCAGGCCTTGAAAAGCCCCCTAACTGTTCATCTCCCATCCTTAAACCCCTGCTGCCCTTAAGCAGTTGAATCAACTCCATGAGCACCTGCTCTACCTTCCCCAGAGCCCTGAGACCTTTGGAGCTTTGAAAAGTGATAATTGGTTGTTCTCTAAATCCTCATTTCCTTCTCTGCCTCTAAGTAAGCATGTGGCATCCCACCTCGGCTTCCTGGTCCAGTCTTGTTCATCTTATAAAAAGGCCTCCCTACGGGGTCAGAGGCCTAGACCCATCAAACCCAGGGCTCCTGAAACAATAGGACCCCTATTCCTCCTGTAGGAAGCCACTGTGTTAGAGCTCTCAGGGTGTCTACAAACATCTAGATAAGTGTTTCTCAACATGGATTCTGTTGACAN
pathogenic
335,330
The chromosome X, position 67721915 genetic variant in gene AR (androgen receptor): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Androgen_resistance_syndrome', 'Kennedy_disease']
GAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGGCACTGTGCTCAGTGTTTTCCAATCTTCATTTCTCCTCTTATTTTCTCTCTTGCACTCCCACCAACCTTGTTCTCTTCCTAAATTCCATTCCTGCCTCATTTTTCTACCCTCCATTCTCCTCTCTCTTCCTTCCTTTAACTGTCTCCCTAGTATTTTTCCCCTTTTCCCCCTTTCTTTTCCCCTTCCCCCATGAATTTCTTCTCTTTCCTTTCCCCTTCTCTTTCCTCCATTCCCCACTTTTTCTGCCCCTGAGGCCTGCAGCAATGTTAAAGGAATCCTCATTCCAGCATTGTGATTTCAATGGTAAAAAGATTGCAGCATTGTCATCAACAGAGGTGGGAAAGTACATTGGAGACTGGAGCAGAGCCAGACCTCAGGGTCAGCCAATCTTACTAAAAAATTCTCTACAGTGAAAGAGCTTGGAGCAACACTGTTCTGCTCAATTGATTTGTGATACCATCTAAACACTTCCTCTTTCTAGTTGGGCTTCAGCCTGAGTTGAATAATTCTACACCATCTGCCCTCTTCTCTCTTTCTCCAGGACAGCCAAGATCTCTCTGAGATAGGATGCTGAGCTTCCACCCAGACAATACCAGGCCTGCTCATCCTATGGAGTAGGCTAGTGGCTTGGAAACCAAAATGTCAAACCATAGCCTTTAGGCTCCATCTGGGAGGTCTTTGTCCTCACCACTTAAGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAGAACAATGTGGAATCTCCTTCACTGGGAGTTTTTGAATAAGTATGAAATTTCTAGTATTCCAGGCCAGAGGCAAAGGGGTCAACAGGATGACCAAACACTTCGGGTCATTTGCAAATCTTGATGTCCTGATGTTAAGAGCTGACTACTGGGGCTTCTCCTAAAAATCCTTCATGTTGAGCTGCCTGGAAGGCAGGTTCTCATTCTGGCTGTAGCTGAGATGTTAGAACTGTAGTCAGGGAGACCATGTGCCTCCCCCATTGTGTTCATTTGGTTAGGCTTTCCTGTCCCTGACTCAGAAAACAGAAGGGGCACAGAGACCTGGAAATTCCATGTGCTAACCCATATCCTGGCCAGAGAAGATGAGTAGTTATCAGGGTGTCAGGATTTTGGAAAACAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAGGACCACTTTTGCCATTAAAACATTATTAGGGAAAAGCCAGCTCCTGGACATTTCCCTTCTTCATTCCCCCTCCCCATCCCCACTCTACTCTCTCTCAGCATCATTTTCCTAACAAGAAACAATTTCATGACTAGAAGCCAATTTATTTGCTAGAAGTCAACCTCCATCAGATTCCCCACCTATCCCCAGTCTGTCTTTGGGACAAGGCCTTTTTGACTGGTTACAGCAGGTCTCTGAATTTTTCCATAGCTTCTGCTATAGAAACAGACATGGGCCACCTTGTATTCTTTGCAGGGCAGTAGAGCAGGAGGCATTTCCTCCTGGAAAGATTTCCTCTTCTGCCAACAGGAGGAGATCTATGTAAGCAACTCAGATAGGATTTGTATGGCAGCCAAGGAACTTTTCTTTAATATCTTTTCTAAGAGCCCTCTCTTAGCCCCTACGGAGGGAGAAGGGCAAAATTTGATATTCAAAGCTATGTGTTTTGGTTATCTAAATCAGGGTTTTACTGTGAATGACATAAAAGCTTAGGTCCTAAAAAATGAGTATCTGAGAAGAGTAGAAAAAGAAAAGGTTCAGGAAATTTGATTTACTTGACTCCTTTCAGATCGGATCCAGCTATCCTTTCCCCTGAGATCTCCCTGACAGACTGAAGGCCCCAAGCACACAGACTTCAACTAACAGGAAGCCAAGTAGATGGTTCCCTGTGGGGGTGGGGGTCAAGTCTGTGGTCAGAAAACTTGGTGCTTTGTCTAATGCTCCTTCGTGGGCATGCTTCCCCTCCCCATTCTGTCTTCATCCCACATCAGTTCCAGTGGATGGGCTGAAAAATCAAAAATTCTTTGATGAACTTCGAATGAACTACATCAAGGAACTCGATCGTATCATTGCATGCAAAAGAAAAAATCCCACATCCTGCTCAAGACGCTTCTACCAGCTCACCAAGCTCCTGGACTCCGTGCAGCCTGTAAGCAAACGATGGAGGGTGCTTTATCAGGGAGAACAGCCTGATAGAGCCAATGATAATATGCTTCTCTAGAGTCTGGCACCACCTGTTGGGAGGTGCTTCCATTCCCCTCTGGCTTTGAGTGTGGTCCAGGAAGAAAATGTGGTGAAGAAAAGAACACGGGTCACAGTGTCCCAGCTGGATATTGTGAAAGGGGTGGAGGAGTTGAGAACAGAGCAGTTGGGACTCAGGGAAGGGACTTGCAGCAGATGAATTCTCTAGGCAGACAAAACAGACCTGGATGTTTTTCCCCTCTTCTTTGAGTCATGTTCATGTGAGTTTGTCTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTGCGGAGGCTTGGGTGAGAGCACAAGCTGGAGAAGTCTTGAGTCAGAGAGCTTACAATGGTATAAGACATCTCTTGGGAGCCCTCAGTGACTCCATGGAGACCATTTCTTTCTCTCTCTCTCGCTGTCTCTCTCTAACACACACACACACACACACGACCTCATGGGGGAGGACCAAGGAAGTACGGGGAAGGGGGAGGAAACAAAAGGCTGAAAGACCAAAAATCAGAGGTTGGGGAAGAGGCTAGCAGAGGCCACCTCCTTGTCAACCCTGTTTTTCTCCCTCTTATTGTTCCCTACAGATTGCGAGAGAGCTGCATCAGTTCACTTTTGACCTGCTAATCAAGTCACACATGGTGAGCGTGGACTTTCCGGAAATGATGGCAGAGATCATCTCTGTGCAAGTGCCCAAGATCCTTTCTGGGAAAGTCAAGCCCATCTATTTCCACACCCAGTGAAGCATTGGAAACCCTATTTCCCCACCCCAGCTCATGCCCCCTTTCAGATGTCTTCTGCCTGTTATAACTCTGCACTACTCCTCTGCAGTGCCTTGGGGAATTTCCTCTATTGATGTACAGT
GAGAGAAGAACTTGTCCAATGTAGGTCAACCCATTTGCTGATCTCTTCAACACCAAGCTCTATTATCAGCCCTGTTTTTTTCTTTCTTTCTCTCTTTGTAGAGATCACATGTTGTGAGGATAATGAGCTTGAACCTTAGCTGTGTGACCTTGGGCAAATTACTGAACTTCTATGTGCCGCAAATTTTATCTGGAGACTGCTGAAGAGTATTATAATAGCACCTTTCTATATGTCATTTATTGAACACCTGCTATGTGTCAGGCACTGTGCTCAGTGTTTTCCAATCTTCATTTCTCCTCTTATTTTCTCTCTTGCACTCCCACCAACCTTGTTCTCTTCCTAAATTCCATTCCTGCCTCATTTTTCTACCCTCCATTCTCCTCTCTCTTCCTTCCTTTAACTGTCTCCCTAGTATTTTTCCCCTTTTCCCCCTTTCTTTTCCCCTTCCCCCATGAATTTCTTCTCTTTCCTTTCCCCTTCTCTTTCCTCCATTCCCCACTTTTTCTGCCCCTGAGGCCTGCAGCAATGTTAAAGGAATCCTCATTCCAGCATTGTGATTTCAATGGTAAAAAGATTGCAGCATTGTCATCAACAGAGGTGGGAAAGTACATTGGAGACTGGAGCAGAGCCAGACCTCAGGGTCAGCCAATCTTACTAAAAAATTCTCTACAGTGAAAGAGCTTGGAGCAACACTGTTCTGCTCAATTGATTTGTGATACCATCTAAACACTTCCTCTTTCTAGTTGGGCTTCAGCCTGAGTTGAATAATTCTACACCATCTGCCCTCTTCTCTCTTTCTCCAGGACAGCCAAGATCTCTCTGAGATAGGATGCTGAGCTTCCACCCAGACAATACCAGGCCTGCTCATCCTATGGAGTAGGCTAGTGGCTTGGAAACCAAAATGTCAAACCATAGCCTTTAGGCTCCATCTGGGAGGTCTTTGTCCTCACCACTTAAGTGGGTGTCAAATTTCCTTCCCTTTCTGCACACGCTGCACAATCAATTTCTGTCTTACACACACACACACACACACACACACACACGATTTTTGAAGTGCTGAAAACTGGAAGGCCTACTAGCATGAGGATGCTGTGTCTTCTCTTAGAGGTATGCCATGGTCAGCCATGGAACCGAGAGGTTGCTCTTCCTTGAAAAGCTGGCCAAGCATTGGCCACTTCCCCATATAATTTATAGGTGATAATGTGGTGATCTGTTCAGAAGTGACTATAATAAATGCAACTCACATATGTCTACAGTTTCCAAACTGTGGTAAGGAGCAGCCAGCATATGAGGGAATGGGCTCCCCTTCAGCAGGGGACATTTAAACTAGACATTCAAAAACACTCCCTGGCAGATTTAACATTGGAACTCGTTTTGAAAGAACAATGTGGAATCTCCTTCACTGGGAGTTTTTGAATAAGTATGAAATTTCTAGTATTCCAGGCCAGAGGCAAAGGGGTCAACAGGATGACCAAACACTTCGGGTCATTTGCAAATCTTGATGTCCTGATGTTAAGAGCTGACTACTGGGGCTTCTCCTAAAAATCCTTCATGTTGAGCTGCCTGGAAGGCAGGTTCTCATTCTGGCTGTAGCTGAGATGTTAGAACTGTAGTCAGGGAGACCATGTGCCTCCCCCATTGTGTTCATTTGGTTAGGCTTTCCTGTCCCTGACTCAGAAAACAGAAGGGGCACAGAGACCTGGAAATTCCATGTGCTAACCCATATCCTGGCCAGAGAAGATGAGTAGTTATCAGGGTGTCAGGATTTTGGAAAACAGAGAGAGAAAAAAAACAAACAAACAGACAAACAAACAAAAAAACCTTTTCCTGGTCCCTGGAGCACCAGCAGGAGAAACAGCAAGCTCTTCTTGGAAAACCTGGCGAGGGATGGCAATCAGAGACATTCCCTCTGGGCTTATTGTAAACTTCCCCTCATTCCTTTTTCCTCTGTGTATCTCCTTCCCAGGTACCGCATGCACAAGTCCCGGATGTACAGCCAGTGTGTCCGAATGAGGCACCTCTCTCAAGAGTTTGGATGGCTCCAAATCACCCCCCCAGGAATTCCTGTGCATGAAAGCACTGCTACTCTTCAGCATTAGTAAGTGCCTAGAAGTGCAGGGAATGCCCCCTGAGGGCACAGAGATTCAGAGAGGACCACTTTTGCCATTAAAACATTATTAGGGAAAAGCCAGCTCCTGGACATTTCCCTTCTTCATTCCCCCTCCCCATCCCCACTCTACTCTCTCTCAGCATCATTTTCCTAACAAGAAACAATTTCATGACTAGAAGCCAATTTATTTGCTAGAAGTCAACCTCCATCAGATTCCCCACCTATCCCCAGTCTGTCTTTGGGACAAGGCCTTTTTGACTGGTTACAGCAGGTCTCTGAATTTTTCCATAGCTTCTGCTATAGAAACAGACATGGGCCACCTTGTATTCTTTGCAGGGCAGTAGAGCAGGAGGCATTTCCTCCTGGAAAGATTTCCTCTTCTGCCAACAGGAGGAGATCTATGTAAGCAACTCAGATAGGATTTGTATGGCAGCCAAGGAACTTTTCTTTAATATCTTTTCTAAGAGCCCTCTCTTAGCCCCTACGGAGGGAGAAGGGCAAAATTTGATATTCAAAGCTATGTGTTTTGGTTATCTAAATCAGGGTTTTACTGTGAATGACATAAAAGCTTAGGTCCTAAAAAATGAGTATCTGAGAAGAGTAGAAAAAGAAAAGGTTCAGGAAATTTGATTTACTTGACTCCTTTCAGATCGGATCCAGCTATCCTTTCCCCTGAGATCTCCCTGACAGACTGAAGGCCCCAAGCACACAGACTTCAACTAACAGGAAGCCAAGTAGATGGTTCCCTGTGGGGGTGGGGGTCAAGTCTGTGGTCAGAAAACTTGGTGCTTTGTCTAATGCTCCTTCGTGGGCATGCTTCCCCTCCCCATTCTGTCTTCATCCCACATCAGTTCCAGTGGATGGGCTGAAAAATCAAAAATTCTTTGATGAACTTCGAATGAACTACATCAAGGAACTCGATCGTATCATTGCATGCAAAAGAAAAAATCCCACATCCTGCTCAAGACGCTTCTACCAGCTCACCAAGCTCCTGGACTCCGTGCAGCCTGTAAGCAAACGATGGAGGGTGCTTTATCAGGGAGAACAGCCTGATAGAGCCAATGATAATATGCTTCTCTAGAGTCTGGCACCACCTGTTGGGAGGTGCTTCCATTCCCCTCTGGCTTTGAGTGTGGTCCAGGAAGAAAATGTGGTGAAGAAAAGAACACGGGTCACAGTGTCCCAGCTGGATATTGTGAAAGGGGTGGAGGAGTTGAGAACAGAGCAGTTGGGACTCAGGGAAGGGACTTGCAGCAGATGAATTCTCTAGGCAGACAAAACAGACCTGGATGTTTTTCCCCTCTTCTTTGAGTCATGTTCATGTGAGTTTGTCTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTGCGGAGGCTTGGGTGAGAGCACAAGCTGGAGAAGTCTTGAGTCAGAGAGCTTACAATGGTATAAGACATCTCTTGGGAGCCCTCAGTGACTCCATGGAGACCATTTCTTTCTCTCTCTCTCGCTGTCTCTCTCTAACACACACACACACACACACGACCTCATGGGGGAGGACCAAGGAAGTACGGGGAAGGGGGAGGAAACAAAAGGCTGAAAGACCAAAAATCAGAGGTTGGGGAAGAGGCTAGCAGAGGCCACCTCCTTGTCAACCCTGTTTTTCTCCCTCTTATTGTTCCCTACAGATTGCGAGAGAGCTGCATCAGTTCACTTTTGACCTGCTAATCAAGTCACACATGGTGAGCGTGGACTTTCCGGAAATGATGGCAGAGATCATCTCTGTGCAAGTGCCCAAGATCCTTTCTGGGAAAGTCAAGCCCATCTATTTCCACACCCAGTGAAGCATTGGAAACCCTATTTCCCCACCCCAGCTCATGCCCCCTTTCAGATGTCTTCTGCCTGTTATAACTCTGCACTACTCCTCTGCAGTGCCTTGGGGAATTTCCTCTATTGATGTACAG
pathogenic
335,336
Evaluate the clinical significance of the mutation at chromosome X, position 68234501 in gene OPHN1 (oligophrenin 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Abnormality_of_the_nervous_system', 'X-linked_intellectual_disability-cerebellar_hypoplasia_syndrome']
GTAACAACACAGAGAAAATGTTATCAGTCAGGGAAGCTCATAAGAGAATGAGTAGCTTAGGGTTTTACTGCGGGGCTAGTTACACAGGCACACTCTGCCCAGCACAACCAAAATTCAAGAGTACCAGAAGAAAAAGGTGTTCGACATAAGCTACATTATTTGCAGAGCCAGGCTTGGCACAGTCAGCCATTCTTACCCATTAAGGGAAACTTCTAAATCAATGTTGGGAGCTGTTTAACAGTGAAGTTCCCAGATGCCATTCCAAGGGCTAATTTTGTAAACAGGTCTTTCTAAGCATAGCAGTCTCAGGCCTGTTGACTGTTTTCTGCATAGAAACCGCGACACAGAATAGATAGAAAAGGAAAAAAACAAAAGTGGGCAAAAGGAAAATGATAGAAGATCCCAGACTCAATTCTAGTTTATGGAAGGAAAGTAGTCCTTCTCCTTTGCAATACTAACTCCATCCACAACTAAGGCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGTTCTTGTCACCCAGGCTGGAGTGCAATGGAGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTTCTTCCTCAGTCTCCTAAGTAATTGAGATTACAGACATGTGCCACTATGCCCGGTTAATTTTGTATTTTTAGTAGAGCTGGGGTTTTGCCATGTTGGCCAGGCTGGTTGCAAACTCTTGACCTCAAGAGATCCACCTGCCTTGGCCGCCCAAAATGCTGGGATTACAGGCATGAGCCACTGCACTCGGCCACACTGAGGCTCTTGACCTATTACCTTCAAGCACCTCAGATGATGTGATGGATATCTATGAAACCAGTTATCAGGAGATGAGCTCCAGCTCTGCCACAATCTGTGTGACCATGGACAAGATGACAGCTCCTGCCTATGATATTATTCCATCAGATATCTCTTTTCATACTTGAATCTTTAAAATCTCCATTATTACTGAATCTTTCATTGAACATATAGACCCCTCCTTCCATTAGAAAAATTCTCAATCAGTTTATTCCTTCTTTTCCTTCCCTAGTGCCTCTCTTACGGCTCTGTCACTTTCCCCTAGATCGTTTCCTAGATCAATAGTTTCCTAAACTGTTTATCCTGCTTCTAGTCTCTCCCTGATCTAATTCACCCTACAACCTATGCCAGTTTGAGATTCCTAAAATAGAATTCTACTTATGTTCCTTCCATCCTTGGGCCATTGGTCTCTGTTTGAAAGGTCCATTTATCCATTTTCACCTGTCAAACACTTTACCTATATTTTAATGACCACGTCAAATTGGAAGGGCAACATTCTTCCACAAAGGAAATTCCCCACATCCAAACATAAGTCTTCTATTCTCATTTCCCACTCCCAACAAAAGCACCATATACACATTAAAGTATGTAAAAAAAATCTATTTGTATAAGAGTAATGTGTTTTCTTATTTAGTAGCCCAACAGTAAGCTGCAGAAGGGCAGGAATCATGTCTCATTGTTTCTGTAGCCATGTTGCATCCAGTACAGTTCATGGCATGTGGTAGGGTCTCACCGAATGGTAGCTTATTTGAACTGAAGGCACTGCAAGTCCCAGGTAAGCAGTAGTCCCAAAACAGAACATTCCCCTAACCCCTCACCAAAAAAAAAAAAAAAAAAAAAGGTTGTGGAATCTCTCAGGGAAAAAAGTAGAAGATCTGTTCCTGATTTCTACCAAATACAACACTAGTTTAACTTTATCCTCGCATGGATTTTGGACTTGCAATTGAAAGGGACTCTCGACTCCTCTTCTTACAGATAATGGAATGAGGCAAAGAAAGAAGTATCCTATCCAAGGTCACACCCTGAGTTAGTGGAAGAGCTGGCTTAGTATTCAGGGCTTCTGAGTCTCAGGCCACAGTTTTGACTACAAGTGCTACTATCACATGAGGTTCCCTGCTGAGACGGGGTATGGGAAAAGCCTTGCAGTACAAAATTCACACTGTTTCTAAGGCATAGCTAGCAATGGAAGGCAGGGGCAGGCTTTGTGAACATACCTCTTGTAACTGAGATTCTTTCTTTTTTGAAGACAGGTGTAAGTGCCGATCCAGTAAAGAATAAAACCTCTCACCATCCTTTTCAAATTTCTTTTTCCGCTCCTAAAGGTGGGAAAGAAGGGCAAAGATTAAATGTCTGTAGTTGTAACTCTGTCTGCTTAGAAAGGAGAATGAAGGAGATAGTGTCAGGTTTCAGGTGGTCAATCCCTCTAGCTCCTGGAAGGAAAAAAAAGCAACGGAGAATTAACTTTGTATTGGTCTCAGCAGTTTCAGCTTCCTGAAATATAACCCCAAACCATTCTGCCTGCAGAAATGGCAGTCCCTATTTTTACAGCTGAAAGCTATGGAAGCTGCTCCTTAGAGAATGATACCTTAAAAGGGCCTGTGCAGTAGATATATTTTCTTCCCTCCAATATTTTTCACATAGATTAACCACTCATTCAAATTTTCTTACAAAGGAAGAAGACATAACACAAATGGAAGTAAATATTTGTCATGAAAAGGTTAATCTACAATGCACTTAGACAGCTAATAATAAGTAAAACATTTCCAAAGAAATAGGAACCTGGGATTGTCTCTTTTTAATAAATTACTTGGTATTATTTAAGCACTTCACTCCAAAAAGCTGATATTAAAAACAGAGAAAAAAAATCCTGGAAAGTTTAACTAGAAAGCAAGGGTTGTAAAGATTTGTGGCAGATGAAGGACTCAGCCTTTACTCTTCTCGAGTATGAAATTTAATTAAGTTCTCTGCTACTCAGCACAACTGGAAGAAACACAGCATCTAAAGTAGCACTAACAATGTTCCTTTGTCACAGACTAATGCTGACACTCTACTATTCTCTTAGCATCATGCTGGAAAATCAATGTAAATGGCTTGTGCTGTCTCATGCGAAATCCAAAATCACTGAGCACCTGCAATGTGCCAGGTAGTAGAAGAGGCACAGCAGGGGACACACGGATCAAAGAAAAAAAAATCACCCATGGTTTATTGCTACAAGCAATCTGTTGCTGGGCAGGAAGCTAGGGCAGAGCTGAGTGACCTGTGACATATAAGAAATGTGCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAGAGAAAAAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTACAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTAGGTGAGAGAGCAAGACTCTGTTTCAGGCGGGGTGGACAGGGAAGAAAGAAAGAAATGTGCTTTTTACTATTTTTTTTTAATGAAGGGAAACGTGTAGGGAGGAAGCTAACATTCATTAACCAAGGCCTACATCAGGCCAGGCACTATGATAGACACTTAAAGTCTATTATCTCATTTAGACTTTACAACACTGAGAAGCAGATATTGTAAAGGAAATTAAGGTTCAAATAAGCTGAACTAACATCCAAGATCACAGTCCATGTAGCCCAGATTATCATGGGTGGAATAACATTCATGGGGCTTATAAATAATCAAGACGTCTTAGGAATACAACTCGAGAAGTTCCATAGCCCAACCCTAACTCAGATACCAAAACACAGGAGGTAGACATTTTCACACAAAACATAGGAAGGACAAACTGTTCCTCCAGCTGTTGAATCAATTTAAAGTACCAATTATTTGAGAAAAGCATGGGCCAGAAAACCTTACTGCCTTCACCAAGGACCGATAAGATTCTGTGGAATACTTTCTCCTTCAAATTCAATTTTTAAATTAAAAACTGAAATATAATTCTCATATCATAAAACTCATCCTTTTAAAGTGTACAATTCAGTGGTTTTTAGCATATTCACAAAGCTGTGCAACCACTGCTGTTATCTAATTCCAAAATATTTTCATCACCCCAAAAAGAAATCTTAATCACATTAGTAATCAT
GTAACAACACAGAGAAAATGTTATCAGTCAGGGAAGCTCATAAGAGAATGAGTAGCTTAGGGTTTTACTGCGGGGCTAGTTACACAGGCACACTCTGCCCAGCACAACCAAAATTCAAGAGTACCAGAAGAAAAAGGTGTTCGACATAAGCTACATTATTTGCAGAGCCAGGCTTGGCACAGTCAGCCATTCTTACCCATTAAGGGAAACTTCTAAATCAATGTTGGGAGCTGTTTAACAGTGAAGTTCCCAGATGCCATTCCAAGGGCTAATTTTGTAAACAGGTCTTTCTAAGCATAGCAGTCTCAGGCCTGTTGACTGTTTTCTGCATAGAAACCGCGACACAGAATAGATAGAAAAGGAAAAAAACAAAAGTGGGCAAAAGGAAAATGATAGAAGATCCCAGACTCAATTCTAGTTTATGGAAGGAAAGTAGTCCTTCTCCTTTGCAATACTAACTCCATCCACAACTAAGGCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGTTCTTGTCACCCAGGCTGGAGTGCAATGGAGTGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTTCTTCCTCAGTCTCCTAAGTAATTGAGATTACAGACATGTGCCACTATGCCCGGTTAATTTTGTATTTTTAGTAGAGCTGGGGTTTTGCCATGTTGGCCAGGCTGGTTGCAAACTCTTGACCTCAAGAGATCCACCTGCCTTGGCCGCCCAAAATGCTGGGATTACAGGCATGAGCCACTGCACTCGGCCACACTGAGGCTCTTGACCTATTACCTTCAAGCACCTCAGATGATGTGATGGATATCTATGAAACCAGTTATCAGGAGATGAGCTCCAGCTCTGCCACAATCTGTGTGACCATGGACAAGATGACAGCTCCTGCCTATGATATTATTCCATCAGATATCTCTTTTCATACTTGAATCTTTAAAATCTCCATTATTACTGAATCTTTCATTGAACATATAGACCCCTCCTTCCATTAGAAAAATTCTCAATCAGTTTATTCCTTCTTTTCCTTCCCTAGTGCCTCTCTTACGGCTCTGTCACTTTCCCCTAGATCGTTTCCTAGATCAATAGTTTCCTAAACTGTTTATCCTGCTTCTAGTCTCTCCCTGATCTAATTCACCCTACAACCTATGCCAGTTTGAGATTCCTAAAATAGAATTCTACTTATGTTCCTTCCATCCTTGGGCCATTGGTCTCTGTTTGAAAGGTCCATTTATCCATTTTCACCTGTCAAACACTTTACCTATATTTTAATGACCACGTCAAATTGGAAGGGCAACATTCTTCCACAAAGGAAATTCCCCACATCCAAACATAAGTCTTCTATTCTCATTTCCCACTCCCAACAAAAGCACCATATACACATTAAAGTATGTAAAAAAAATCTATTTGTATAAGAGTAATGTGTTTTCTTATTTAGTAGCCCAACAGTAAGCTGCAGAAGGGCAGGAATCATGTCTCATTGTTTCTGTAGCCATGTTGCATCCAGTACAGTTCATGGCATGTGGTAGGGTCTCACCGAATGGTAGCTTATTTGAACTGAAGGCACTGCAAGTCCCAGGTAAGCAGTAGTCCCAAAACAGAACATTCCCCTAACCCCTCACCAAAAAAAAAAAAAAAAAAAAAGGTTGTGGAATCTCTCAGGGAAAAAAGTAGAAGATCTGTTCCTGATTTCTACCAAATACAACACTAGTTTAACTTTATCCTCGCATGGATTTTGGACTTGCAATTGAAAGGGACTCTCGACTCCTCTTCTTACAGATAATGGAATGAGGCAAAGAAAGAAGTATCCTATCCAAGGTCACACCCTGAGTTAGTGGAAGAGCTGGCTTAGTATTCAGGGCTTCTGAGTCTCAGGCCACAGTTTTGACTACAAGTGCTACTATCACATGAGGTTCCCTGCTGAGACGGGGTATGGGAAAAGCCTTGCAGTACAAAATTCACACTGTTTCTAAGGCATAGCTAGCAATGGAAGGCAGGGGCAGGCTTTGTGAACATACCTCTTGTAACTGAGATTCTTTTTTGAAGACAGGTGTAAGTGCCGATCCAGTAAAGAATAAAACCTCTCACCATCCTTTTCAAATTTCTTTTTCCGCTCCTAAAGGTGGGAAAGAAGGGCAAAGATTAAATGTCTGTAGTTGTAACTCTGTCTGCTTAGAAAGGAGAATGAAGGAGATAGTGTCAGGTTTCAGGTGGTCAATCCCTCTAGCTCCTGGAAGGAAAAAAAAGCAACGGAGAATTAACTTTGTATTGGTCTCAGCAGTTTCAGCTTCCTGAAATATAACCCCAAACCATTCTGCCTGCAGAAATGGCAGTCCCTATTTTTACAGCTGAAAGCTATGGAAGCTGCTCCTTAGAGAATGATACCTTAAAAGGGCCTGTGCAGTAGATATATTTTCTTCCCTCCAATATTTTTCACATAGATTAACCACTCATTCAAATTTTCTTACAAAGGAAGAAGACATAACACAAATGGAAGTAAATATTTGTCATGAAAAGGTTAATCTACAATGCACTTAGACAGCTAATAATAAGTAAAACATTTCCAAAGAAATAGGAACCTGGGATTGTCTCTTTTTAATAAATTACTTGGTATTATTTAAGCACTTCACTCCAAAAAGCTGATATTAAAAACAGAGAAAAAAAATCCTGGAAAGTTTAACTAGAAAGCAAGGGTTGTAAAGATTTGTGGCAGATGAAGGACTCAGCCTTTACTCTTCTCGAGTATGAAATTTAATTAAGTTCTCTGCTACTCAGCACAACTGGAAGAAACACAGCATCTAAAGTAGCACTAACAATGTTCCTTTGTCACAGACTAATGCTGACACTCTACTATTCTCTTAGCATCATGCTGGAAAATCAATGTAAATGGCTTGTGCTGTCTCATGCGAAATCCAAAATCACTGAGCACCTGCAATGTGCCAGGTAGTAGAAGAGGCACAGCAGGGGACACACGGATCAAAGAAAAAAAAATCACCCATGGTTTATTGCTACAAGCAATCTGTTGCTGGGCAGGAAGCTAGGGCAGAGCTGAGTGACCTGTGACATATAAGAAATGTGCTTTTGGCCGGGCACAGTGGCTCATGCCTGTAATGCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAGAGAAAAAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTACAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTAGGTGAGAGAGCAAGACTCTGTTTCAGGCGGGGTGGACAGGGAAGAAAGAAAGAAATGTGCTTTTTACTATTTTTTTTTAATGAAGGGAAACGTGTAGGGAGGAAGCTAACATTCATTAACCAAGGCCTACATCAGGCCAGGCACTATGATAGACACTTAAAGTCTATTATCTCATTTAGACTTTACAACACTGAGAAGCAGATATTGTAAAGGAAATTAAGGTTCAAATAAGCTGAACTAACATCCAAGATCACAGTCCATGTAGCCCAGATTATCATGGGTGGAATAACATTCATGGGGCTTATAAATAATCAAGACGTCTTAGGAATACAACTCGAGAAGTTCCATAGCCCAACCCTAACTCAGATACCAAAACACAGGAGGTAGACATTTTCACACAAAACATAGGAAGGACAAACTGTTCCTCCAGCTGTTGAATCAATTTAAAGTACCAATTATTTGAGAAAAGCATGGGCCAGAAAACCTTACTGCCTTCACCAAGGACCGATAAGATTCTGTGGAATACTTTCTCCTTCAAATTCAATTTTTAAATTAAAAACTGAAATATAATTCTCATATCATAAAACTCATCCTTTTAAAGTGTACAATTCAGTGGTTTTTAGCATATTCACAAAGCTGTGCAACCACTGCTGTTATCTAATTCCAAAATATTTTCATCACCCCAAAAAGAAATCTTAATCACATTAGTAATCATNNNN
pathogenic
335,398
Considering the variant on chromosome X, location 69616316, involving gene EDA (ectodysplasin A), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
GAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAA
GAAAAAGCACAGTGACTTGCTCAGAGGGACCCAGCAACCTAGTGGCAGGATGAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAAN
pathogenic
335,429
Does the variant on chromosome X at location 69616367 affecting gene EDA (ectodysplasin A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
GAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTT
GAAGTCTCCTGACTCCTGGTCTAGCATTCTTTCCAATAATCCCGGGCTGTGATAATTAAAGTAAATCAGCCTGGCAGTTTTCCTAGCATCTAGAATTCCTGGACTGGACAAGCAGGACTTGAGAGCAGCTGTTAAACACCTTTTTTCCCCTTAGCTCTAGGATGATGATATTCTTTGTGAACTTTATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTT
pathogenic
335,430
Chromosome X, position 69616551, gene EDA (ectodysplasin A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
TATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAA
TATATTTCATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAANNNNNNNNN
benign
335,433
Is the variant located on chromosome X at position 69616559, gene EDA (ectodysplasin A), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1']
ATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAAACTGGGAT
ATGGGTAGGGGTTAAAGAGACGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAAACTGGGATN
pathogenic
335,434
Regarding the variant at chromosome X and position 69616579, affecting gene EDA (ectodysplasin A): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
CGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAAACTGGGATGATAGTTGCTCTAACTCCTA
CGACACAAAGATGTTTTTGAAGCACTGAGACCATTCACAAAGTGTACAGAGAAAAGTTGTCTGTGGCTAATATATTTAAGGCTTATGACCTCTGTGCTCTCTGGACTGACCTGCCAGCAGATGCTTTTGGTTTTGTGTTTTATTTCTCTTATTTTGTCTTCTTTTCTATTTCTATCTATGTTTTTCTTCTCTTCCACCAGCCTAGGTCTTAGGCCTACACATAAGTGCCCCCGGCATTGCTGAGCCTCCATGATGACACTCAAGATGCCTGCTGCAAGTCAATAAAATTGTTAATTATTCATTACTCAATAACACGGAATGAGAGTGCGTAGTGACTATGAAGCATACATGGTTCCCCTGCTATGGTCATTTCGCTTTCTATAATCTCAGACTAGTAACTCTTGTCAATTGTGACTCTTGATTTAATCCTTTCCATCCTTCATTTCAGGGTCTATTGTTCTGCCTTTTGCCACTTTTTTTTTTTTATCTGAACCCGTTTCTGATTGGTGCAGCTGTTGAAGATGCTGCAGTTGCAGCAGTGTACATCTGGAACATTTGGCTGACTTGTTGAACTTCCCCCAGGGAGTACTCCAGGAGAAGGATGGGAGGGGTGGAGAGGCCAGAACAGTTGCCTGTAAATAAAGATGCCAGTAGTGTCTGGCCATTCTGTGGACCACACTTGTACAAATCCACTTCATTCTGGCCCTCGGTTTCCCTGTCTACTCACTGAAGACATACGTTCTCCAATCAAAACTGCTGCAGTGGAAGAAATCTATTCTGGCTGTGGATGCTCTCATACAGCATTTTTTGCATTGTACAGGGATCGATAGATATTTGTTGAATTAATTAATATATCAAGAAATCCTAGGAGACTGTTTTACCCTTCAAGGGACAACATCATTTCAGTTCCGCTTGGCATGGGGCGGCTTCTCTGTTACTTAGATTGAGCCTTCAGAGTCACTCCAGGAGTGAGGCTGCTTGAGTCCCACCCATTCCCATAGTTCCCAGGCTCCTGGGTCTCCTTTTCTTCGGGCGAGCCATTGAATTGCAAACACAGCAGGCATGGTTTCATTCCAAACCCAGAGCTGTTTTAATTAGTTTAACGTCTGTTAAACGCTTTGAAGATTGGAAGCAACAGATAAGTACTGGATGATGTTATTAACAACTGCAGTTAATTGCAAACATTTCTATTAATGCTAGTTTCTGCCTCCTTTTCTTTGCTCTACTTTCTTTCCAAGGTTCCCAAATTCTTAGCCTCCCCCTCCTTTCCTCCCCGTACTGGCGCTATAGGGTTAAACTGGGGCGGAGCCCAGGGATGAACGACAGCGCCAGTCACCAACTGGTACGGGGCAAGCGGGAAGAGCTGGGTGGGGCGGCCAGGCAGAGGCGAACCCTCACGCCCCCAGGCCCCGCCCCGCGGCTGGAGGCCCGGCTGGAACGGCACGGGGCGGGGCGCCAAGGCTTGGCGGCCCCGTGGTTGGGCGTCCCGGCAGCCGCTTGAGGGATGGGGCGGGGTCGGCCGGGACCTCCTCCTTCATTCCCTCGGCGGGCCGAGCCTCCCCTCTCTCCCGCCCCTCCTCCTCCCTTTCCCACCCCTCGGAGTAGAGCTGCACATGCGGCTGCTCCCTGCTCCGTCCCGCCCAGCCACTGTCGCGCAGGAACGGGTCCCTGCAGCCCCCAGCCGATGGCAGGACAGTAGCCGCCTGTCAGAGGTCGTGAACGGCTGAGGCAGACGCAGCGGCTCCCGGGCCTCAAGAGAGTGGGTGTCTCCGGAGGCCATGGGCTACCCGGAGGTGGAGCGCAGGGAACTCCTGCCTGCAGCAGCGCCGCGGGAGCGAGGGAGCCAGGGCTGCGGGTGTGGCGGGGCCCCTGCCCGGGCGGGCGAAGGGAACAGCTGCCTGCTCTTCCTGGGTTTCTTTGGCCTCTCGCTGGCCCTCCACCTGCTGACGTTGTGCTGCTACCTAGAGTTGCGCTCGGAGTTGCGGCGGGAACGTGGAGCCGAGTCCCGCCTTGGCGGCTCGGGCACCCCTGGCACCTCTGGCACCCTAAGGCAGCCTCGGTGGCCTCGACCCTGACAGCCCCATCACCAGTCACCTTGGGCAGCCGTCACCTAAGCAGCAGCCATTGGAACCGGGAGAAGCCGCACTCCACTCTGACTCCCAGGACGGGCACCAGGTGAGTCACCTAGTAGGGGCGGCGGCGGCCCCCTCCCCTCGCGGGTAGGGCGAGGGCCCTCCGCCACAGGGGCCTGGGAGCACTCAGCAACCTCGAGCCAATTTAGAGGGCAGGACCAGGGAGGGACCAGGCGAGCAAGGGAGAAGTTGCCCAGGGCAGGTTGTCTTCGGTCCCTGGCCCAGCTAATCCAGACTCCCTGGGGACCCCTTGACTTGGAAAGTCTCGCGCGCGCCCGCGGCCCCTGGCTGCGGGCTGCCTCGAGAAAAGTTGGCGACGCTCCCGTCGAGGAGGTGCCTGCGCTGCCCCCCGGCCGACTAACGGCTTGGCCCTTCTGCTCGTGATGAGGTTCTCTGCCCGCGGTGCTTGTTTTTTCGTGTCTAGAGCTGATGCCAGAACCAGCAGGCTCCCCTTTGGAGTTGGAGCTGTAAACAGCTGTAATAACTGTTCCACGCCCGCCCGTTGAAACAACTTTTAACCGCATTTTCAGCGCGGGTCCTTGTGCGCTGACCAGAACGTGGGCTTGTTCACACTTACCTGCAATTTGAGACTGATTGTCCTCGGCGTTCTAGTGAGGATCAGCGCCCCTGAGGAATTCTGGTAGAAATATGCCGTCTTGCTAGACAACTTCTGAACAGCAATTTTAAAAATCTATGGAAATAAAACTCACCCTTTGCATGCCGGTTCTGATTCTTAAGCGGGGTAGGTGTGCGGTGGGAAGGGTGGGTGGGAAGCGCTTTTACTACTGTTAGCTTGAGAACGGGAATCTGCCAATGGAATAATTACTCAGGACTCGTCCCCCAAGAGCAGTTTTGTTTGTTTTTGCAATCTTTATGGTGTTTGTGCCCTAATAAGCAAACTATTAGCTTTGGTGTTTGTTTTCTATTCTATTCTTTCTAGCTTTTTATTCAAGTAAATTTCGTTCACTTAACGTAAATACTGTCTTGGTTGCCATATGTGAAACTTAGGAGAAGCATCCAAGGATCCTTTCGAGGTGGCTAAAGAATAATAATAAAATTGTACCTCTTAGGGAAGAGAGCAAGTTGTACAAATAAGTTCCTTGAGGTGAGGGACCCAAGCCTTCTATATTTACTGCCACATCCAGAGTCATTGTCACAACTCTGTAAACATTATTTGTGCCACTTTGACCTCCCATCTAAAGTGGTACGCTTGATAGAGACATCATATTCATGATAATAGTGTAATGTTAGGACTGATACTTAAAAAAAAAAAAAAAGATGTGCATTGTAAAGTTGCCCTGAGCCTTAAAATGTCTTACTAGCACACTCCAATTTATATAACAGCTTATCAAAGAAGAGAATCAGCAGACATGCTTCTCATACTTGAAACTTTAAACATTGTAGCTAAACGATAATTAACTAGGATTCTGACTCCTTTATTTATCTACTGCCACTCCCCCCACACCCCAATGCCCAGCAGAAGTATTTAGCAGCTGAACATTGATATTCTGTGAAAAGATGAAAGAATTAAACTTCTTTAATCAAATGTTGGCCAATACTTTTTGGCATTCAGGATGGACAGAGCCATTTTTATAGACTGAGGATTAGCAGAACAGCTGTACTGTAAGGTTTCTGTGATGGCATGAAACTCTTACAGGTGTATAATGGCATTTAGTTACCTACCCTTTGTGTGGCACTAAAATAGTTCTGTCTAGATTTAAACACAGCTTCCTATCTTCTGTCTTTTATTCTTTCTGTTTTAATATTTTTGAGCAATAGAAGCAAGGATACTAGCTCTTTACATTTGTTGACATCAATTGGAATCAGTTTCCTAGAGTTATGAAGGGCTTATATGAGTCCATTTCGTTTGATTCCCTTGGGAAACATAGGCCCTAAAGGGAAAGTGACTTGCCCAAGGTCACATAACTAGAGTCAAAACTGGGATGATAGTTGCTCTAACTCCT
pathogenic
335,435
A mutation at chromosome position 69957126 on chromosome X in gene EDA (ectodysplasin A): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
TGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGCAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTCTGGTCAAGGTCAAAGCCTCTCATTAATTT
TGACTTGTAGAGTTGCAAATGATTGAGATTTTATTGTAAACAGCAGTTTAGTTTTATACTATTATTAGTACTTAGCTTATTTATATTGTGAGTTAAGTAACTTTCTGTGGGCTTATCAGGAGAACTAGCCAAACTTTATTATGTTGATTGTATGAGAAAATGCATTTTTACATTCCAATCAAGTGACTCAAAAATACTACTCAGTTGAACCATGTGAAATTGTTGATTGATATTCAACCATTTTTGACAAAAATGGCAGTTTATTTTGAAATGCAGTCCTGTTGACAAGATGGAAATTACCTACACATTGATTTATTAATTTTATATTTAATACATTCATGTATCCTTCAAGATGCTAATCCTACACCTTAAGGATATTGGGTAAATCACAGAATTTTGAAGAAAATTTGTGTGGAATATTGGGGCTTTCTTGGGTCCAACCCATTTTTTTTCCACTTAATCAGAGATGGAGCAGACATGAGGACTCTGGAATTTTTTATTTTTTGAACTGATAATAGAATGAAAATGCAGATTCATTTGTTCTATTTTAGGCCCCAAATTAACCATTCTATTTTGAAGATTAAGTTTAATAATAATAGTAATAGCAAACATTTATTAAGTGCATGCTACATGCTAAGTACTGTTCTAACTCTGCAACTGTTTTATCTGCAAAGTACTATTATTATCCCTACTTACTGATGAGGAAACTAAAGTTTAAGTAACTTGTTCCAGGTTATACAGCTAGTAAGTGGCAGAGTTGGCATTAGAATCACTCAGTCCTACTACCGTGTTTACTGTTTACCTCAAGCACATGGTTTTACCACAGTAAAGCACTCATGCTAAAAGATTATGATTCAATTCAGCAAATATATATTTAAGCTATGATTATTAGTGAAGCCAGACCCATTCACATATGAAACATATTGTATTATTATCAGAGACCATTATAAGACAGTAGAGGACCAGGTACCAAAATTAGTCTTATAGACCACAAGTGCTATAGGAATCTCAGAAGAGGAGAAAATAATTGTGTACTTTGTCATGACTAACTCCCAGAAGAGCATTGACAAATAGTACCTCAGTATTGGATGCACAGCATTTTGGGAACAAACCAAAATTACATCATAAATAGCAATGTGGCAAAATCATGAATGTGTAATAATGAAGTCCAATGGGGAGCAGCAAATTCAAGGTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTCTTTCTCTTTCTCTTTCTTTCTTCTTTTTTTTTTTTTTTTTTTACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGCGACCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTACCTCAGCCTCCCCAGTAGCTGGGATTATAGGCACCCCCCACCACCACACCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTTTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCAAATTCAAGGTTTTCTGTTCAATTTTCTGTTCAACTCAAATTCTGAGTGAGCATCCTCAGTATGTGTGGGAAGTTAGAAATTTGTGGCTAGGCTCTCTGAATCCCAGAAATATATGAAGAAATGGGACCTGATGGATTATTTATTAGATATTCAGGGTGGAAGAAATGGGATTCAGAAATTAACCAAAATGTCATGCCTACATGATTGGAATAATAATGGTATCAAAAATAAAATGGTTTGTACAGTGGAGGGGAAGATGGGCTCAGGCTTTAGACACATCAAACTTAAGGTACAGGTAGACTGTCTATGGAAAGCTGGTTTTTTATGTTGGCTATGACTGAGTGGGGTCAACCTTTGACTAATGTACTTGTAATTTTTACAGATGGCCCTATTGAATTTCTTCTTCCCTGATGAAAAGCCATACTCTGAAGAAGAAAGTAGGCGTGTTCGCCGCAATAAAAGAAGCAAAAGCAATGAAGGAGAGATGGTAAGTCTACTCAGTTGATCCTTTATCACTTCTGAATTATTTGTTAGTAAAAGTATCCTTTTAAGAACTACCTTCTTGGTAGGGCATGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCCACGCGGGCAGATCACTTGAGGTGAGGAATTCAAAACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCCTAGTCCCAGCTGCTTGGGAGACTAAGGCAGGAGAATCGCTTGAAACTGGGAGGTAGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCCATCTCAAAAAAAAAAAAACAAAAAAAAAAAACCACTACCTTTTCAAGTGTGCTTCATCATCTTATATACTGTCCACCACAGACCCAAGGTCATAGACTATTTCTGCAGCCTAACCTACCAATCAGTCCTTTAACATAGAACTAACTATACAAGGATCCTCCCTCCTCCAACTCCAGATACCTTCAGTCCTTTCTCAGTATGTCTGAGAGCCATGATAGCATTTGTATCTCTCAAAATCACCCTCTATAAGGGCCTCATCTCTCCCGGAGATGTCCCACACCTATTAAGGTCAACAGGAGGATTTGGTTCTATTCTTGGAATTGACAGTGTTGTACCCTGCTAGCACTTACATGATGTGTTAATTCCAATGATAATTTTATCAATGTTGGTATCCACTACCATGCCCAAATCTGAACTAGACCTTCTAGAACTAGTTTATAAGTTTCTTGTGGGCAGAGATTTCATTTCTCTTTGTATAAGCCTAGAATCTAGCCTACTATCTGGAACATTGTTGGTGATTGTTATGTAAGTCGATGATGTTGACTGCCCCTTCAGCTAGGCAGTGATGTATCAATGGAAACCATCCCTGTTCTGGGTGTAATAGCTTTGAGTTAACTAGCAATGCATTCTGTGGGGCATAACAAAATGTTGAGCTAGCTCCTGGGCAGGGTCTTTGAATTGCTCTGATATTTCAGCATCACTCTGTCAATTGACATAATGCTACCCCTTTGGGCACAGGGGTTTGTAGAATACATAGCTCTGGGCTGCTGCAAAGGCATCTGGATTCAAAGACAGCATGTGTCTGGCTACATCTGCCAATAATATGTGTCTGGAGGGTTACAAAGCAATATGACTTTATACAGATGAAAATGAAAATTTTAAACTGACATTTGTTGATGTGAGTAAGGGCCACTGATGGAAGCAGTTTTAGAGGGCGGAAGCTATTAAAGAGATGGAGCCAGGACTTTGTCAGTAGGGGCAATAAGAAGTATAACTGGCTGAAATCTGAGAAAGAGCTCAGAACAAGGACCCCATAATAATACCAAAAAAAAAAAAAAAAAGAGCCAGAGCAGTAAGATAGGGTTTTCTAGTCAGTGGAGGTGGCAGCAGCATTGAGCCTTTGAATGGAGAACTGGACCAGTGGGGCCATTCTCTAGAGAAGTCATTTTGCATACAATTGATGACCAATTCAAGCCTAAGAAATGCAGTCCATGTAGTAAAAGTTACCCATTATTCACCTACTACTTGTAGCCAGTTTCCCAGAAGTCTTCTGGCTATGTGGAAGCAGGGAGCTAAGAAGCATGGACCCTTTCCTCTCCTAATCATCTCACCCTCTGATACATGTAAGTCTCTCCACCTTCAGCTTTTCCCCTGAGGCTACTCCCACAACCATCAAACTTTTCATAATCCCTGGTTGCAAAGGAAGAGAGGAGACAGGTGGTAAGAGCAATATCACCTTCTATAGTGGGCGTGGTCTTCCCTCCCTCTCTGAGTGGTAAGTCTAATGGCTTCTAAGGTTTACCTCTTCATCTAACCTCCGAAGTTTTCTCTTAAAGAAAATAATTTCCTCCTTTCCCTAAAACTACTTTATCCAAATTCAGCTACCAACGTCTCTGATACCGATCTTCCTTAGAATGTTTATTCTGTCCTAATACAAAACAGTTTTCTCTCTGGTCAAGGTCAAAGCCTCTCATTAATTTN
pathogenic
335,444
Variant at chromosome X, position 70027865, gene EDA (ectodysplasin A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1']
TCTAGGTCTTTAAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCT
TCTAGGTCTTTAAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
335,448
Is the variant located on chromosome X at position 70027876, gene EDA (ectodysplasin A), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
AAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAA
AAGGCTACAGGGACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
335,449
Does the chromosome X mutation at position 70027888 within gene EDA (ectodysplasin A) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['EDA-related_disorder', 'Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1']
ACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTT
ACTCTTCTGGGAGAGATGTTCTCTGGACCTTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTNNNNNNNNNNNNNNNNNN
pathogenic
335,450
Assess the variant on chromosome X, position 70027917, impacting EDA (ectodysplasin A): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
TTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAG
TTCCTTTCCTTCCTTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGNNNNNNNNNNNNNNNNNNN
pathogenic
335,451
Located at chromosome X position 70027930, the variant affecting gene EDA (ectodysplasin A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia', 'Tooth_agenesis,_selective,_X-linked,_1']
TTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCG
TTTCTGAGGAAGAGACCCCACGATGACCCCATGGTTTCATTCCAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGNNNNNNNNNNNNNNNNNN
pathogenic
335,452
A mutation at chromosome position 70027972 on chromosome X in gene EDA (ectodysplasin A): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['EDA-related_disorder', 'Hypohidrotic_X-linked_ectodermal_dysplasia']
CAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCT
CAAATGCAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
335,456
Benign or pathogenic: chromosome X, position 70027978, gene EDA (ectodysplasin A) variant? Disease(s) if pathogenic?
pathogenic; ['Anhidrotic_ectodermal_dysplasia', 'Hypohidrotic_X-linked_ectodermal_dysplasia']
CAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAA
CAGATGTGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAANNNNNNNNNNNNNNNNNN
pathogenic
335,457
Gene EDA (ectodysplasin A) variant at chromosome position 70027984 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
TGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTC
TGGTTAGACATAGACAAATGGCCTCTTGAGTGGCATTGCCATGAGGATTGGGTTTCTTGGCCATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
335,458
Chromosome X, position 70028046, gene EDA (ectodysplasin A): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
benign
ATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCCTGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCTACTGCCTTGCCTTGTCTCATCTCAGCCTCCCTTGCTACAGCTGTGT
ATGAGGCATTGTTCTTAAGGGAGGACCTGATAAATCAGGACAAGATTCTCCTGCCTAAGTGTCTGGGGAGCAAGAAGTCAGAGTCAGTAAGAAGGTTTTTAGTGAGACTAGAGAAGGTTGTATTTAAAACTAAGAAACTACCTCAGGTGAAGACATTGTGATGAAGTCTGGAAACAGGCTTCCATTCCTGAAACTTTCCATAAAATTGTGAGAAGGTGGTGAAGGAAGGAAGAAGACCTGTGCCTACATGTAGTCTTTGAGTGGAGCTGCACAGAGCAGAGGAAGTCAACAGGAAGAGCTGGAGGTTTTGGTTCAAGACCACAGTTATGACTCATTTAAGATAACTACATCCTGGTGGGAATGTTGAAAGGACTGGAATATGAAATAGGAGGGTCGAGATTGTTCTAGAAGGATAGCAAGGAGGAAAGGGGGAAGAGTTGGTGGGCATGATTAATAATACATTTGAGAATGGGACTTCTGAGGAAAGACTTTGGGAAGCTGGATTATTTAGCCTATAGAAATAGGGGTTGGTGGGTAACTTAATTTCTTTTCATATATAAGGATTATTATGTATATGTATATTCTTCTCTGTCTACACAAATAGAATAAGAGCTTAAACTGCCACAAGAGGGACATCATTTAATATACCAGAGAACTTCCTAACAGTGAGCAGTGAGGGGCAATAAACATTGGAACATGTTACTATGGAGTTTGCAGAATTTCCTTTCCCAGAGATCTTTTAAAATAGAGTTTACAGAGGTCAGCTGAGAGAGTGAAACTTGCTGCCTCCTCCTCAGCTCCCTCTACTCTCTGTCTCTGCTTCTTTCCTGTTTCTCAATATCTCTCTCTCTCCCTCCTCCTCTTTCCGTGCCCCTCTTCCTCCTTCTCCATTCCCCCATCTCCAAAACTCCTTCCCATTCCTCATTCCCGACTAGCACTGTCCCCATCCCAACCCCCATTTCCTGTACATCCTGACTCCTGGAGGAACCTTCCTGGAGCTGATACTGTTCCTAAGGCCAGGCTGTACGGCTTCCTCTTGTTATCGACATCAAGTCCACCAAACTGGGCAGTAAACATAAAAGCTCCACATTCTTCAACAATAGCCCTTTCTAAAAAGAACCACAAAGTGACCCATAGGTCTAATCACTTGGTAGAGAAATTCTCATCCTTTGGACTCAGCTGAAATGTAACCTCCTTTTTGAAACCTTCTCTGACCTCTTCAGCATTTGGTCCCTACCCACTAAGGTAGCACTTCTACTATCCCATGACTGTGTCTGTTTCCCCACAGACACAGACTGATCTCCTGGAGGGCCACTTATTTCTATATGCTCAAACCTAGCTTTGTAAATGCATATTCACAAAAGGGAGTGGGGGGAGGGGAGAGAAAGCATAAGACAGACGGAGACAGGGAGACAGAGATGTGTGATAAAGGTATCCAACTCTTTAGCAGGGCCTCCCAGAGAGCTGACTTTGTGTCCTCAGAAGTCTGTAGAACTCCTGACAGTACACTCATCACAGGAAATAACTACAAATGTAACACTGAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCAGATCACCCGAAGTCAGGAGTTTGAGACCAACCTGGCCGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCAGGTCGCGGTGGCACGCGCCTGTAATCCCAGTTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGAACTCCAGCCTGGGCAACAGAGCAGGACTCCGTCTCAAAAAAAAAAGTAACACTGAATCCTATTTTTCAGGAAAGAAAGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCAGGACCCCAGGGACCCCCAGGAATTCCAGGGATTCCTGGAATTCCAGGAACAACTGTTATGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTTCTGGTGAGTTCCCGTCTCTCCACCCCACCAGGTGCCTTTAAAGTACTTTAGGAGAGCAGGAGTGGGTGATCCTGAGAGCAGTTTCAAACGGTGGAGATGGGGTTGGTGTGCAATAAGGGATGCAGATCTCCTAGCCCAGTGTAAAACTAGGAATTGGACAAGCCAGTAGGGCCTGGCCTGCTCTAGCTTCTTATATCTACCAAACTGTCAAGGACAGGCCACCTGTTCTTGCCCCATCTCAACCCTTCTGTTACAAGCCCTCCCTGACTCTTGGCCTCCCTGTAGTGGACCAGTAAAACTCATATGAGCCAGAGACAGAGGCCCTGGTGGTTCACAGGAGTTCCAGTGGGGAATAGATGTAATCTTCTGTGATTCCCAGCATCTAGCTCCACATGCTGATGTTTGCATAGAAATAGGCTATGGAGTAGAAAGTTGAGGACTGAACAAAATGACAAGCCCTAGGATAGTTTCATCTTGTGAAGTCTGAAGTGCTTTTCCCATAGCAAGTAGTCACTAATGGTCAAGAAGTTAGAAACTTAAGAGTCACTCAGGCTGTGGATGAAGCAAACCCAGGCACCAAGGCTGTCCTGTCCGGGAACCAAGTGCTTCTTGCACTAGATCCTTACCCTACCACACTTGCCATTCAAATGTCATTTCATCCCTTTGCATCTTTCTCCTTAAGCCCTGAAGGGCATCCGAAAGGTATGAATGCAGATCCAAACCTGCCTAATTGGAGTTGACAAGAGTCAGACTGCCTGGGCTAATGTCAGTTGTTATTTCTTTCTCCTGCTCCTCACTCCCCTGCCCTGTATCTTGGGGCTTTAAAGAAATGGACCCTTACAGCTGATTTCTCCAGGGGCAAGAATTCTGCAGCAGGATTCAGATTCTTTAACTTGTACTTCACACAGGGCTCAGCAGTGTTACCATGGCCACAAGAGATGGAGTTAGAGATTTTTTTTCAACCAATCATTCCTTAAATATTGAGCACTTTCTGTATACAAAGAGATATATTGATACATGGTCCCTTTTCTTATAGAGTTTATCTCCTAGAGGAAGAGAGAACAAAGAAACAAGATATTTACAAATAGCAGTGGGCTCTATGAAGAAAATTAATAGAAAGGGAGCAAAACACTAGAGAAGCCAATGCCATTGCCTCAGGGTCACACAGTGATGGGAATGCTCTCTCATTGTTCTCCATGGGTGCCCGGTGGGGCTTGCCTTGGGCTAATATTGGCCAGAGGCAATACTCAGAAGTTTCCCTGCTGGGTGCTGGGCCCACTGAAGATGAAGGTCAGGGCAGGAAACAGAAGGGGTGCACTCTGACTCTTCCTCCAGCTCTGAGCCCTGGAGAATAAAGCTCAGACAGGGCTGGCTGCAGGGAGCATGGCTCACCACCACTAGCTGCTCAGGTGAGGGGAAAAGGAAGTCAAAAGATTATGCCCTCTGATTGTCCTATCCTATTTTGCAGGTGCTGCTGATAAAGCTGGAACTCGAGAAAACCAGGTTGGCTGGGGATTGCTCTCTTCCTGGGTAGGAGGGAAAGCCACAGGCTAGAGCCACCTTTAAATTAGCTTCTTATTAGATTTCCTGAGGCTTTATTTCATGAGAACACCCCGGAGATTCTGACGGTTTTCACTCACAGCCCCCTCCCATCTCTATGAATAGAAAAGCTTTGCCCCAGGGCATGTTTTTAGCTAAGGAAAGGGTGTCTTGCCAGGATCATTTTTCCTCATTCCACAGGAGACCCCAGGTTCACCATAGCCAGGCCCAGTAGTCAGCTGAAATAAGCTGCCAGTCAGACCTATTCACCTGAGCCTCCAACTCCCCAACCACCCCAGACACCTTGCCGGCTCTCAGACCACCTGGGATCCGGAGCTGAAGAGTTGAAGAGTATGTCCTTGAAAAACAGCCAACCAGCTCCAGGCCCAGCCTAGCCTGGGCGTCTGCCTTAATGGCCTGAAGAGCTCCTCCCAGTCTTTGAGCTTCCTAATCTGTCTCTATTGGCAGGTTCTACTGCCTTGCCTTGTCTCATCTCAGCCTCCCTTGCTACAGCTGTGTNN
benign
335,461
A genetic alteration at chromosome X, position 70033424, in gene EDA (ectodysplasin A)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Hypohidrotic_X-linked_ectodermal_dysplasia']
CTTCCCCCAAAGAAACATGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGC
CTTCCCCCAAAGAAACATGAACATTCATGAAAGAACAGCACTTTGGAATAATGTCCAGTCCCCAGAGTGCACAAAGCCTAAAATGCGTGAACCCCCAGGAGCCTTGGGAAGCAGCAAGCTAGCCAAGATGCCAGATGCTTACAGAGCTTGGGGTGGAAGGGAGGGGTTGTGAGTACAGAAACGGTAAAGGAAGGTTAAAAAAAACAGCTACATGGGGACAGTTTCTAAGAACTCAGTCAGTCCTGAACTGGCTGTGCTGAGTTTCCTTAATGACTGTATTTAGCTACTTCCCTGACTGCCACCTCCATGTCTGACTTAGTAGCCTCAGAAGTGTAAATAGGAACACAATGGCACCAAAACCCAATTGGTCCTGCTGGGGACCCCAAGGCCCTGAGTGGGCCATGATCCCCACCTGTCCAGGGAGGCCAGAGACAGGCCAAAATAGATTTGTTTGGATATCTAGATGGATAGTGTTTATTCTGTGCTAGCAGCCACTGATTTTGCTCCCACTGCCACATAATAAGATTGTTTCCAGCCCCTCTGGGCCAATCCTCAGAGGTGGTCTGTGCTGACCTTTAGTACTACCAGAAGAAGTGATGGGGGTGGGGTGCAGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACATGAGGCCAAAAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGCTGGGCATAGTGGCACACACCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTTGGTGACAGAGTGAGTGACAGTCCATCTCAGAAAAAAAAAAAAAAGAAGAAGAAGTGATGGGGTCAGGGGTTGGAGGACGTCATGCAGAGTGGTCCATTGATGGGACAGAGCCAGGGCAGCTCCTAGCCCATCTACTTACCACCTCAAGGAAAGATGGTCACCTTTTCCAGAAAGGCTGTTTCCTCACCCCTCAGACAGGCAGGCCTACTGAAACTGGCCAAAGATGGACTTATAAAATATAATTTCTTGGGTGCAGGATGGATGGCTTAGAGGGGAAAAGGCTCCCTGGGCTTGGATGTCCTCCTCTCATGGTGGGAAGGAACATTCCTCTTTCTGCAGGATGGAAAGAGAAGTTTTTCCTCCATCCTCACACACTGGCTTCCGCTGTCCAAAGGAGTGTGACTGCCCCCTCCACCCCTGCCTGGGGTGGGGCTGAGACAGATGCTTTGCCAAGGGTGGCTCGGCTCCTATCCTCCCAGCTGGCTCTATTGCAGCCTGCCAGTCTATCCTTCACTCTCATAAGGATCCCTCTCACCTATGGGGCCCTGGTACTAGTGGTCAGTAGCCCCAGTTACCATGGAGTCTGAATCATCTCTAATCCCTAAGGTTCTCCAGATAGACAGTGGGCTGAGTGGTTTCCTCCCAGGGAGGCTTTCCAGAAAGCTGTGGGTGTGGAAGAACCGTAAAAAAGAATCTCTTAAGGAGAAAGAGAAAACCCATGAACCTATGAGATGAGAGGGATTCAGGAGCTCTGGCTGGGAAAGTAAAATTGAATAATAAGACCTAGCCTGCCACTCAGTGTCTGAATTTTGCCTGTGCAGGCCCCATAACAACAAAGAAAATAGGGCAGCATGCCCACTCTCATCCTCCACCGGCAAATTCCAGCTAGAAGGTATTGGTTAAAGACCCTTCCAGATGCAAGGGTCAAGAAAGGAAGGATAAAGACAGACAGGCAGAGCCCAGGAGCCCTGAAGCAGGCCTGGCAGCTGCTTTACAAACAGAACAGCTTCTCTGCTTTCAAATGCTCTTCTTAAAGTTTGGCCTTCTAGGCTACCCTGGTTGCACTGGGATAGGGGTGGGGGTTGTGAACTCCTTGGTATTTATTTTCTGTTGCCTCGATTATTCTGACATGTACTGAGTGACTGCCCTTCTCTCATACTGAGATCTTTCAGGTGGAGTGCTCAATGACTGTCTCGCATCACTATGAACCCCAAGGTGTTTAAGCTACATCCCCGCAGCGGGGAGCTGGAGGTACTGGTGGACGGCACCTACTTCATCTATAGTCAGGTAGAAGTGAGTACGGTCTTAGGCCTAACTCTTCTTATATCCAGAATGCAGATCCGGTGCAGGCCACATAGGGGCACTGTGGAGCCAGCCAAGACCATCCAATGGCTAACTTCCTGCTTTGGGTGAGGGGGTGGGGGGACCGCACTGGGAGGGAGTTGAAAGGAGGAAAGAGAGAGGGGGCCAGCTTCTTTTGTTTTGTTTTGTTTTGTTTTTCCTTAGCCAAATATTATTGAAAAACTGTGAAAAAGACCCCTCCCACACCCTGCCATCTGATTCCCTCCTGCAGGGCCTCAGGCCCCTGTTTACCCTCTGAGCTGTTTGGCTGCACTGCCAAACTTGAACTTGGTCTCAGTACATTCTTTGAAAGTCAGTTCCAGGGTTACTGAGAACCCTTTCCCTCAACACTGCTGGCTCGGACGTTGTAATGAATAGTGCTCCTGCAGACTTTCTTTCCACCTCAAAAAGATTTCTGACTGTCTTTCCTTCCTCTTTCTCCCATTTGTTTCCCTATCTTTCTATTCCTCTATTCTTGCCTCCTTCCTGCTGTCATTCTCCCAGCCCTTTCTCCCTCTGCTTTTGTCCTCTTCCTGCCCTGGGCCCGCTCCCCAAGTCCACCAGTGTCCATCTACTTCCGTTCCCCCATTGTTTGCCTCCATGGGAGTGGCTCCTTGGAGATAAAGGAAGATGAGCCATGAGGTTGGGATTTTTGTGGGATGGGCAGCAAGCAGGCAGGTGGACAGAAGGACTATGGAGCCAACAGATGGGTGTCACATGAGAGCGGCCAGAGAAGGTGGGCTAACAAGCATCTGCTAGGCACACTGAGCACCCCGCTGTAGCTTGGGTCCTGACCCGTATATGGCACCCAAATATGCTGTTCCCACCTGAAGAGCTGATAGAGGGAGTGACCTTTCATAAAATGATTTACGGTGATATCTGAGAGTCCCAACACCCATGGGGCACATGGGCATAACCCTGATGTCCTGTGAGCCAAGTTCCACGTGGTGGGGGTGGGCGGCAGATCAAAACTTGGTGTGAGGTATGATGGATAAGGGTAGTGAAGGATGGAAAAATTAATTTTCTGAGCCTAGGAGAGAATTGAGAGTGGCCCATGCAGGCTGGGAAAATCCCCATGACATTAGGCCACTGAGCATAAGTTAGTGCTTCCTTCTGGCCACAAAGTTAGGGGCCTGGGCTTTTCCAAATTCTTTGTCTTGTTTGTGGTAGCTAGCTCTCGATCTCTCTGGACCTGTTTCCTCAATCATCAGATGGGAGGCCCAAGGGGCACTGTGAATCAGTGAGGGGAGTCCAGGCCCAGGGGAGGGGTGGTGCAAGCTGAATAAGCTTCTGTTAAGGAGCTCAAGAAATCACAAGTTGTTACATGCCCTCTCTGGGGAATCAGTGACTTCTAAGTTTCTCCACAAATAGTCCGTGGGGCTCAAGAATGGAAGTCAGTTTGTGTCCACGGCACTGTGTACACACCTGCTACGTGCAGAGCACTCTGCTTCATGTCAGGGCTGGGGCAGGGGTGGGCGGGGGAACAGGGGCACGGTGAAGCTGCAAATAGGGCATGGTTCTTAGCCTTACAGAGTTTGCGACAAGTGTGCTGTTGTAAGAAAAGTTTGCTCAGCCAGCTGAGCCCCATGGACTAGGGGAAGAACAATGCCTGTCACCTGTCCTTTCCTGTTGGCCAGCTAGCACGCCTTCACATGGCACTGCCCCATCCATGGGGTATACTAACAGCTCATCTGAGAAGATTCTGTCAATTCACCACAGGGAGGGCCCCCCACCCTCTCTTTCCTCTCTTCCCCAATCCCTTCTTGTTGCCTCTCACTCAGGTATACTACATCAACTTCACTGACTTTGCCAGCTATGAGGTGGTGGTGGATGAGAAGCCCTTCCTGCAGTGCACACGCAGCATCGAGACGGGCAAGACCAACTACAACACTTGCN
pathogenic
335,471
The genetic variant at chromosome X, position 70402701, affecting gene KIF4A (kinesin family member 4A): benign or pathogenic? Disease name(s) if pathogenic?
benign
AGCCAGACATTACAGAGATTTGCAAAAGTGTAAAATAATTCCTTTTCTTACTATTTATTATCTCAGAAAATGCTACTTTTCAGAAAATATGTAATGTATAATAGGTTTATGTTTTTTTTTTGTTTTTGTTTTTTTGACAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAATGACGTGATCTCGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCCAGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGCTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGAGTGAGCCACCGCGCCCCGCCAATAGGTTTATGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCGCTGCAACCTCCGACTTGCTGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACACGCCACCACCCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATAATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAACTACCTCGCCCAGCCTAGGTTTATGATTTTTAAGTGAATTAATTTTTTTTTTTTTTGAGATGGAGTATTGCTCTGTCTCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCAGGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCTAAAATTTTTTTCAGTTGTACTTTCTAATACTATAAATCTCTATAGGTATAACACATGTGAACAGAATGTCCTAGATGTCTTCAATAATTTTTAAGGGTGTAAAGGGGTCCTGAAACCCCAAAATTTGAGAACTACAGTCTTAGATTATTTTCATACCCATCTTCCTTATAGTACCAAACTTATCACTGCATATGAAGCACATGCTGGTATACTCTTTCTCACTAGACACAGAAGAAATTTGAGAAGAAAGCTATTAATTAAACTGAAATACTGTGTAGATTTTGGTCTAGGACATACTTGATCAGAAAGTACCCAGAAGCTATAACCAGGGTCAGAATATCTAGTCTTCTTAGAAACTTCTCGGTCTTGTGGCAGGCACATCAAGATAACCTCTCACAATGCCAGCCATGGGTATCATTTTGGTACTTGATTGTAGTAAAGAGCATATCTACCTGTTCTTTTGAGCTTTTTCCTTCAAGTCTCCAACCTGAATCTTATCCTTGCATGGGTGGACCATCATGTCACAGTCTGAGCTTATATGGCCTCAAGACAAAGTAACATATTATACTTAATCCACTACAACAAAAGCCTTACTGTGATAAGTCTTTCCAAGTCCCACTTTATGACCCATTTATTTCAACCAGTATTTAATGGAATAAAACCATTTAAATAGTCTCTTAGAGTCCCTTTGTTACAAGATTTGCGATACTATGTAAAATCCTAACCAGATGACTTAAACATTATTTAAATGATATTTAACTGATAGCTCCATCCATAAAATTATTTGAAGTTTCTCCTCAGAGCTCTTCCCCCTTCTTGATGTTCAGGCTACTTGCAATAAGGCTTACTGTTTCTTTCCCTGAAGGAGTGCTCAGATTGCTGACCTACAGCAGAAGCTGCTGGATGCAGAAAGTGAAGACAGACCAAAACAACGCTGGGAGAATATTGCCACCATTCTGGAAGCCAAGTGTGCCCTGAAATATTTGATTGGAGAGGTAAACATCACTCTAACCAGCAGTTAGGAGGCTGGCTGTGTAGGTTGAAATGGGATGTTAGCCTTGAAATATTGTCAAAGTGTTATTGCCACTTTTCATGGTAGAAACCCTAATAACACTAACATTAGAGAGTTTAGTAGATAAAGGTTGGTGTAAGCAAGTACAGGCCAGTCACTTACAAAAATATAATATGACTCACAAATTGATGCCCGTTGTGACTGGCCTATAGCAAGTGCTGAATGCGTGTTAGCTGTTGTTATTAGGAAAGACCAGAATGCCATAGTGGGTCACTGGCTAAACATCAACTGTTATACTGTACTACTTTTTAAAACCCCTATGAGATGTATATTCAAAAATTTAAGATCCAGTCTAGAAAAGGGAAAACCTAAGCATCTTTTGACATATAAAGATTCATTTTAGGGAAAAGCCATCTTTGCTGACCTTAAAATGATATGTCACCTTACGTTGTCACAAGAGGAATGAAAATTGATTGCCTCTGGTGATTGAAGCATTTTCACTCAAGATAAGCATACAAACTCCAAACCCACAAGTTTAAACAATGCTACCCTTTATACATTTTTGTGTTAGCTTAGCAGATTTGTTCTACTAAGGAAATCTTGATCAGTCTTGTGAACACTGGTACTTATGATGTTCACCATCTGGGCTAGTAGTGAATGTAAAACTAGGCCAGTGTAGGATATGTAGCCTGAAGAGCCAGATCTGCAGTCTCAGTCTACAAGTTCTAACATGTGAATATAGACATTCTGAAATGGGACATAATTGGCCATAAGGGTGTGTCCTGTGGATTTTGCTTAAAAATTAAGGAAGAACTTCTTAAATATCAGAATTTGTAATTGTCAGATACTATTCGGGTTAGCTTTATTCTTGCCTTGAGGCAGAGCAAGAAATAAAATGGCCTTAGCAGTGGCTTCTAGCCCCAAGATACATGTCTCAGCAGAAATGTGGACTCTTGGCCTGGGAATAGAACAATAGTATATTTACTATTCAATGTTGGAATCCATATGACATGAAAAAATAAGAATAGACTTGAACATGGAGGAATTTTTCTCAGACCCTTTCAAGAAAGCTGACATTATCCTGCCTGTTGAAAGGGGGAAAGAAAGGTGGTCATTCTTCAAATAAACTGATCTTCTTTTATTCCTTCCAGCTGGTCTCCTCCAAAATACAGGTCAGCAAACTTGAAAGCAGCCTGAAACAGAGCAAGACCAGCTGTGCTGACATGCAGAAGATGCTGTTTGAGGAACGAAATCATTTTGCCGAGATAGAGACAGAGTTACAAGCTGAGCTGGTCAGAATGGAGCAACAGCACCAAGAGAAGGTAAACTCTAGCAAGTCAAGAAGCTATACTGTGAAACTATCATTGCCTTGTATTGTTAGTTTTAAAAAAAAAGTGGGGATATGAAATTTCTTTCAAAAGTCCACGTGGCCTTTTCTAAATTTTGCAAATAAAAAGAAACCTGAAGCAGAGACGTGACTTGTCTAACTTTATACATACCAGTGACAATGGCTCTGGGTTTCCAACTTAAATATGAATATTAACAATATTAACATGCTGAGAAACAGGCCCAGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGTCCAGGAGAGTGAAACCCCATCTCTACAAAAAATTACAGGAAATTAGCTGAGTGTGATGGTGTGCACCTGTGATCCCAGCCACTCATAAGGCTGAAGTGGGAGAATCGCTTGAACCCGTGAGGCAGAGGTTGCTGTGAGCCATGATCGTGCCATTGCACTGCAGCCTGGGCAACAGAAAGAAAAAAAAAAACTATGCTGAGAAACATCCATGCTGTACTTACTACTTCATGCCATGACAGCAAATGAGAACAGTTTACTTCTAAATCACAAGAGAGCAGTCACCTGGATCACTGCTTGAACTAAGTCAAAATTTCTTTTTCCCCTTGGTACCTTTGTTACCACCCATTGGATCGTGTCTTTCTCTAGGTGCTGTACCTTCTCAGCCAGCTGCAGCAAAGCC
AGCCAGACATTACAGAGATTTGCAAAAGTGTAAAATAATTCCTTTTCTTACTATTTATTATCTCAGAAAATGCTACTTTTCAGAAAATATGTAATGTATAATAGGTTTATGTTTTTTTTTTGTTTTTGTTTTTTTGACAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAATGACGTGATCTCGGCTCACTGCAACCTCCACCTCTTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCCAGCTAATTTTTTGTATTTTTAGTAGATACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGCTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACGGGAGTGAGCCACCGCGCCCCGCCAATAGGTTTATGATTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCGCTGCAACCTCCGACTTGCTGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGAATTACAGGCACACGCCACCACCCCTAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATAATTTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAACTACCTCGCCCAGCCTAGGTTTATGATTTTTAAGTGAATTAATTTTTTTTTTTTTTGAGATGGAGTATTGCTCTGTCTCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCCCCACCTCCCGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGCCGGGGTTTCACCAGGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCTAAAATTTTTTTCAGTTGTACTTTCTAATACTATAAATCTCTATAGGTATAACACATGTGAACAGAATGTCCTAGATGTCTTCAATAATTTTTAAGGGTGTAAAGGGGTCCTGAAACCCCAAAATTTGAGAACTACAGTCTTAGATTATTTTCATACCCATCTTCCTTATAGTACCAAACTTATCACTGCATATGAAGCACATGCTGGTATACTCTTTCTCACTAGACACAGAAGAAATTTGAGAAGAAAGCTATTAATTAAACTGAAATACTGTGTAGATTTTGGTCTAGGACATACTTGATCAGAAAGTACCCAGAAGCTATAACCAGGGTCAGAATATCTAGTCTTCTTAGAAACTTCTCGGTCTTGTGGCAGGCACATCAAGATAACCTCTCACAATGCCAGCCATGGGTATCATTTTGGTACTTGATTGTAGTAAAGAGCATATCTACCTGTTCTTTTGAGCTTTTTCCTTCAAGTCTCCAACCTGAATCTTATCCTTGCATGGGTGGACCATCATGTCACAGTCTGAGCTTATATGGCCTCAAGACAAAGTAACATATTATACTTAATCCACTACAACAAAAGCCTTACTGTGATAAGTCTTTCCAAGTCCCACTTTATGACCCATTTATTTCAACCAGTATTTAATGGAATAAAACCATTTAAATAGTCTCTTAGAGTCCCTTTGTTACAAGATTTGCGATACTATGTAAAATCCTAACCAGATGACTTAAACATTATTTAAATGATATTTAACTGATAGCTCCATCCATAAAATTATTTGAAGTTTCTCCTCAGAGCTCTTCCCCCTTCTTGATGTTCAGGCTACTTGCAATAAGGCTTACTGTTTCTTTCCCTGAAGGAGTGCTCAGATTGCTGACCTACAGCAGAAGCTGCTGGATGCAGAAAGTGAAGACAGACCAAAACAACGCTGGGAGAATATTGCCACCATTCTGGAAGCCAAGTGTGCCCTGAAATATTTGATTGGAGAGGTAAACAATCACTCTAACCAGCAGTTAGGAGGCTGGCTGTGTAGGTTGAAATGGGATGTTAGCCTTGAAATATTGTCAAAGTGTTATTGCCACTTTTCATGGTAGAAACCCTAATAACACTAACATTAGAGAGTTTAGTAGATAAAGGTTGGTGTAAGCAAGTACAGGCCAGTCACTTACAAAAATATAATATGACTCACAAATTGATGCCCGTTGTGACTGGCCTATAGCAAGTGCTGAATGCGTGTTAGCTGTTGTTATTAGGAAAGACCAGAATGCCATAGTGGGTCACTGGCTAAACATCAACTGTTATACTGTACTACTTTTTAAAACCCCTATGAGATGTATATTCAAAAATTTAAGATCCAGTCTAGAAAAGGGAAAACCTAAGCATCTTTTGACATATAAAGATTCATTTTAGGGAAAAGCCATCTTTGCTGACCTTAAAATGATATGTCACCTTACGTTGTCACAAGAGGAATGAAAATTGATTGCCTCTGGTGATTGAAGCATTTTCACTCAAGATAAGCATACAAACTCCAAACCCACAAGTTTAAACAATGCTACCCTTTATACATTTTTGTGTTAGCTTAGCAGATTTGTTCTACTAAGGAAATCTTGATCAGTCTTGTGAACACTGGTACTTATGATGTTCACCATCTGGGCTAGTAGTGAATGTAAAACTAGGCCAGTGTAGGATATGTAGCCTGAAGAGCCAGATCTGCAGTCTCAGTCTACAAGTTCTAACATGTGAATATAGACATTCTGAAATGGGACATAATTGGCCATAAGGGTGTGTCCTGTGGATTTTGCTTAAAAATTAAGGAAGAACTTCTTAAATATCAGAATTTGTAATTGTCAGATACTATTCGGGTTAGCTTTATTCTTGCCTTGAGGCAGAGCAAGAAATAAAATGGCCTTAGCAGTGGCTTCTAGCCCCAAGATACATGTCTCAGCAGAAATGTGGACTCTTGGCCTGGGAATAGAACAATAGTATATTTACTATTCAATGTTGGAATCCATATGACATGAAAAAATAAGAATAGACTTGAACATGGAGGAATTTTTCTCAGACCCTTTCAAGAAAGCTGACATTATCCTGCCTGTTGAAAGGGGGAAAGAAAGGTGGTCATTCTTCAAATAAACTGATCTTCTTTTATTCCTTCCAGCTGGTCTCCTCCAAAATACAGGTCAGCAAACTTGAAAGCAGCCTGAAACAGAGCAAGACCAGCTGTGCTGACATGCAGAAGATGCTGTTTGAGGAACGAAATCATTTTGCCGAGATAGAGACAGAGTTACAAGCTGAGCTGGTCAGAATGGAGCAACAGCACCAAGAGAAGGTAAACTCTAGCAAGTCAAGAAGCTATACTGTGAAACTATCATTGCCTTGTATTGTTAGTTTTAAAAAAAAAGTGGGGATATGAAATTTCTTTCAAAAGTCCACGTGGCCTTTTCTAAATTTTGCAAATAAAAAGAAACCTGAAGCAGAGACGTGACTTGTCTAACTTTATACATACCAGTGACAATGGCTCTGGGTTTCCAACTTAAATATGAATATTAACAATATTAACATGCTGAGAAACAGGCCCAGCGTGGTGGCTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATTGCTTGAGTCCAGGAGAGTGAAACCCCATCTCTACAAAAAATTACAGGAAATTAGCTGAGTGTGATGGTGTGCACCTGTGATCCCAGCCACTCATAAGGCTGAAGTGGGAGAATCGCTTGAACCCGTGAGGCAGAGGTTGCTGTGAGCCATGATCGTGCCATTGCACTGCAGCCTGGGCAACAGAAAGAAAAAAAAAAACTATGCTGAGAAACATCCATGCTGTACTTACTACTTCATGCCATGACAGCAAATGAGAACAGTTTACTTCTAAATCACAAGAGAGCAGTCACCTGGATCACTGCTTGAACTAAGTCAAAATTTCTTTTTCCCCTTGGTACCTTTGTTACCACCCATTGGATCGTGTCTTTCTCTAGGTGCTGTACCTTCTCAGCCAGCTGCAGCAAAGC
benign
335,511
Evaluate this variant at chromosome X, position 71108290, gene IL2RG (interleukin 2 receptor subunit gamma): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['X-linked_severe_combined_immunodeficiency']
TGAGGAACTCCCTTCTTGCCAGGAGGAGGGCTTGGGGGTTAGAGATGACCCAACTCCTTCTGACCTTTGGCCATTAGTCCCCTCCCTAAGCTCCTCACTTGTTTTAGGCAACTTTACTTTACTGCGGATGTAATACAGCAACACGACGACAGCACAGTTGGTATTGACCAGAAACTGCTGATTATCTGAGAAGAGATAGGATGGGACACATGGGCCCATTTCTGTGATCTCCACTGCCCTCAGATCCCTCCACCCCCATCCACAGACTCTAGTTCTGTGCTGCCCCTCACCTCCATGTTTGATGAAGATGAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGATGAGTCATGCAGAAGGAGGGTGTTCTAGAGGCCTTGTGTGGGGCAAATAGGCCTATAGGGTTGGTGGACTAGAGAGGCAGATGGATTTCATAGGCTGAGGATGCCCAGGCTGGACAGGCAGGAGAGAGCTGTTGATAGTTGTGGATAACCAGTATCCCCAGGGGTGGGGCCTGAGACTGCAGTTAAGGGATTATGAGGTCAGAAGTGGCAGGTGTGGCCAAAAAGTGGAGTAAGGGTAAGGAGAGAAAAACTTGGGTGGGGTATGTTAAAGATTAGTTGGAAAGGGGGGACAACATGGTAAGTCTAACTTTTTTTATTTTTTTTATTTTTTTAGATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCATCCTCTACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAGCACACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCATTGTAAGTCTAACTCTAAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGA
TGAGGAACTCCCTTCTTGCCAGGAGGAGGGCTTGGGGGTTAGAGATGACCCAACTCCTTCTGACCTTTGGCCATTAGTCCCCTCCCTAAGCTCCTCACTTGTTTTAGGCAACTTTACTTTACTGCGGATGTAATACAGCAACACGACGACAGCACAGTTGGTATTGACCAGAAACTGCTGATTATCTGAGAAGAGATAGGATGGGACACATGGGCCCATTTCTGTGATCTCCACTGCCCTCAGATCCCTCCACCCCCATCCACAGACTCTAGTTCTGTGCTGCCCCTCACCTCCATGTTTGATGAAGATGAACATGCCCTCAAGATCGCCTCACTCTTCACAAAGTGCCCTGATGAGTCATGCAGAAGGAGGGTGTTCTAGAGGCCTTGTGTGGGGCAAATAGGCCTATAGGGTTGGTGGACTAGAGAGGCAGATGGATTTCATAGGCTGAGGATGCCCAGGCTGGACAGGCAGGAGAGAGCTGTTGATAGTTGTGGATAACCAGTATCCCCAGGGGTGGGGCCTGAGACTGCAGTTAAGGGATTATGAGGTCAGAAGTGGCAGGTGTGGCCAAAAAGTGGAGTAAGGGTAAGGAGAGAAAAACTTGGGTGGGGTATGTTAAAGATTAGTTGGAAAGGGGGGACAACATGGTAAGTCTAACTTTTTTTATTTTTTTTATTTTTTTAGATGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCATCCTCTACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGAGCACACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCATTGTAAGTCTAACTCTAAACTAAACCCTGGAATGAGTGCAGGGCACCTGGAAAAAAGTCAGTTTCCAGAACAGTACTCTTTCTAGCAAATTGGTAATACTCCTGCCTCCACAGCATGAATGTACTACTCCTTTTTCTTCCCCTCCCACCCTCATTGCATCCCAGGCTTCCCCTGCTCCCCACCCCCATGACAGACATTTTTGATGATTATCAACAGAAACTTTATTTCTCATCGGTTCAGGAACAATCGGAGGGTAGATGGAAAGAGGAAGGGAGGGAAAGAGGGAGGGAGGAAGAATCCTGCGAAAAGGAAGGGCCAGACTGAGGGAGAAGAAAAACATGTTCGGGGCAAAAGGGTAATTCTCAAGTGGGGAATGCCAAATGAAGGGGTGCTTACATGGGGGCACAAAATTCCAAATCAGCCACAGTGGGGTGAGGTGAGTATGAGACGCAGGTGGGTTGAATGAAGGAAAGTTAGTACCACTTAGGGCTACAGGACCCTGGGGTTCTTCTGTCAGAGGATTGGGGTTCAGGTTTCAGGCTTTAGGGTGTAACATGGGGGGGCCCAGTAGGGGCTATGCTGGTTGCATGGGGAGGCCCCAGGCCCCTCCCCAAGGGCCCCTCCTTTTGGGGGAATCTCACTGACGAGGCAGAGTCGTTCACTGTAGTCTGGCTGCAGACTCTCAGCCAGTCCCTTAGACACACCACTCCAGGCCTAAAGACAGATATGTCCAGGTCAGGGGTCAATTAGGGGCAGGAAGTAAAAGACCGAGCTCTGTGCCAAAGGAGTACTCATGATGTCTGCAACCACTGTAATTGATTACAGAAGGGATACACAGGCTCCTGGGCCCCCAATACCAGTTGCCATCTGCCTCATTCAATCTATAATCTGCACTTCTGTGTGTGTCTCTCTCTGTATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGANNNNNNNN
pathogenic
335,549
Located at chromosome X position 71110171, the variant affecting gene IL2RG (interleukin 2 receptor subunit gamma)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['X-linked_severe_combined_immunodeficiency']
TATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCC
TATAGTCCATGCCCCATTTGGTCGGCCACATCCTGACAGTTAGTGCAGGGCCTCCTTCCCTCTCCTCTCTGCCCCCACCCCCACACTCTGTCTGTCTTGCTGGCAGGCAGTTGGCAGTTGATAGACTGCAGCATGCTTATGACAGCGTTCTCACCGAAAAGTTCCCGTGGTATTCAGTAACAAGATCCTCTAGGTTCTTCAGGGTGGGAATTCGGGGCATCGTCCTGACAGGGGAGAAAGAGGGAGCAGGAGCACATAGGTTAAAGCTTTTTTATCACCCTTCTCCCAGTTGTCCCATATGAAATAAAGTGATTCTGTGTTCTCTGTGCCTGTGGCTTCCTTCCATCACCAAACCCTCTTGGGTAATCTCTCATTACTTACTGTCTCATCCTTTACTCCTAAAGACCCTGCAAAACCCTCCTCTGCTATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCNNNN
pathogenic
335,565
A mutation at chromosome position 71110598 on chromosome X in gene IL2RG (interleukin 2 receptor subunit gamma): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['X-linked_severe_combined_immunodeficiency']
ATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCAC
ATTGTCAGCTACCGTTCCCCTCATTTTTCTGGGCTTCTCCAAATCTCACCGTTCCAGCCAGAAATACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCATTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCA
pathogenic
335,573
Determine whether the variant at chromosome X, position 71110663, in gene IL2RG (interleukin 2 receptor subunit gamma) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['X-linked_severe_combined_immunodeficiency']
ACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGT
ACACACAGAGAAGGCTGATAATCAATCCCATGGAGCCAACAGAGATAACCACGGCTTCCAATGCAAACAGGAAAGGATTCTCTATAGAAAAAAGAAAAGCAAAGTGGACCTTATATTTGTTGTGCCCCTACTACATGCCAGGCACTGGTGCCAGGCACCGCGCTAAAGACATACTCTCTGTTTAATCCTCACAACAGCTCCTGTGAGGCAGGAACAATTACCTCCATCTTACATCTTAGGAAACAGAATCCAAGAGTTTAGGGATGTGGCCAAGGCCAAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTN
pathogenic
335,579
Classify the chromosome X variant at position 71110940 affecting gene IL2RG (interleukin 2 receptor subunit gamma) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['X-linked_severe_combined_immunodeficiency']
AAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATAAGTT
AAAGAGGTAGTATGTGGCACAGCCTAGATCCAGCTGGTTCCAAAGCCATCTTCACCTTGCAGGCTCTCTAGGAATGCTTCAGGGAAATCCTATACATTCTATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTAGCAGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATA
pathogenic
335,585
Evaluate if the mutation on chromosome X at position 71111039 in IL2RG is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['X-linked_severe_combined_immunodeficiency']
TATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTCAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATAAGTTATCCCCAAACTGAGTGGCTTAAACCAACAGAAATTTATTCTCTCGGCTGGGTGCAGTGACTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGCAG
TATAGCCCCCTTGAGTACCCCTCAGCCTCCTTCTCAATCCACTCCCCTACTCTAACAACACGCTAACCCAACCCTACACAGAAAAACCTTGATTTCTAGAGGTTGGGGTTAGACAGTGTGGAGAGATGGGGCACCAAGTTTAGGGGCTTTAGTGACAGGGAAGTGGAGCAAAAGACAGTGGTGTTAGAAAGGCTGGGGTGTTGGGCTCATGGATTGGGTCATGTGGGCCCATTTTACCTTTTGAAGTATTGCTCCCCCAGTGGATTGGGTGGCTCCATTCACTCCAATGCTGAGCACTTCCACAGAGTGGGTTAAAGCGGCTCCGAACACGAAACGTGTAGCGTTTCTGCCCATCCACACTAGGCAAGGAGAACTTATGTCTATAATCCACTGATTGTTCCTTGAGGAGAAAGAGGATGAGGGAAAGTGGGTGTCTATGAGAGAAGGGAGAATTAAAACATACTCCTGAACACCCACCAGTGTCATCTCTGCTACTGCCCAGTTTCTCTCTCATCTCTTGACTACTCAAGCCACACTGCTCCCTTCACTGACTTGAATCTAATGCCTCCCCTCTGGATCCCCTTAATGGCTTCCTTTTGTTTACTTGTCTATCTGGTATCAGGAAGAGTATGGGTAGGGAATCCCTAATGAAAACTCACTGGTGTCAGGAATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGCAAAACCCTGTCTTTACTAAAAATACAAAAATTAGCCAGGCATGGTTGTGCATGCTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCACTTGAACCAGGGAGACAGAGGTCGCAGTGAGCCCAAGATCGCCCCACTGCACTCAAGCCTGGGCAACAGAGTGAGGCTCTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAAAAGAAAACTCACTGGAGAAAATAGGGGGGAAAGGAGTTGGAGGAGGGAGGGTAGGGGGTGAGCAGAGAAGCTGGGAGGCAGAGAACAGGAGCTTGATATTAGGTCCTTCTATCTGTCTGGTTGAATCCTTTAGCCCTACTTTCTTGGCCTTAGCTGCTACATTCACGTCCCTAGTCACTCACAGTCCAGCTGTGGTCCCAGTCAGTCCGGTACTGCACCAAGTGCTCCAAACAGTGGTTCAAGAATCTGTTGTTCCAGTTCAGTTCTAGCTGGGATTCACTCAGTTTGTGAAGTGTTAGGTTCTCTGGAGCCCAGGGGATCACTGGAGATATGTGTGCATATGTGGTCATTCCCCTGGCCTAGACAAGTCAGGATCCTGAAGGTAGTGCCCCTAATACCTCCTCCCTTCCCATCATGATCCCCTACCTCCTCTTTTCTGCCCATGTACCCTTATGATAAAAGAACACTACTCTGTAGACTCCAATGTCCCACAGTATCCCTGGTCTCTTGACCCTTTCTTTCCAAATTACCCAGATTCTGCAGTTTTAGCATCTGTGTGGCCTGTCTCCTGGGTTCCCGTGGGTCCTGGAGCTGAACAACAAATGTTTGGTAGAGGTGGATCTCCTTTTTTTGCAACTGACAGCCAGAAGTGATTTCTTCAGAGAATAGATAGTGGCTGCACTTCTGGACTTTATCATTATCCGAGTTCTTGTACCTAGAGGAGAAAGGTTGGAAGGAAGAGGAACAGTGGGGCCAATCTGGGTACTGCAGATATCCAGAGCCTAGCCTCATCTCCCCTCAACCGACTTATGACTTACCCCAGGAGAAAACAGTGGGGTACCTGGGAGACTTGCTACCCTCTCTCTTGGTCTCTGATCCAACCCACCTCTTCTTCATCCCCTCCCCCTCGTCCCTTCTCATACCAATAATGCAGAGTGAGGTTGGTAGGCTGGGGCTCAGAGCTGCTGTTCCAAGTGCAATTCATGTACTCGACATTGAACACAAAACACTGAACCTCTGGGAGGGGCAGAGTGGAAACACTGAGGGAGTCAGTGGGCATAGTGGTAGGAAGAAATCTAGATTGGGGAGAAAATGAAGGCAGGGAGGGAAAGAGAAATGATGGTCAGAAGGAGGAGGCCAAGCACGGTGGCTCATGTCTGTAATCCTGGTGCTTTGAAAGGCTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTTGAGACCAGCCTAGGCAACATAGTGAGACCCTGCCTCAAAAGAAAGAAAGAAACAAACAAACAAGAAAGAAAGAAGAAGTAGCGTGAGGCAGGGAACCCTCCCCCTTGCCCTTCCCACTCCACTTTTCAATTCTGCCCACATGATTGTAATGGCCAGTGGCAGGCACCAGATCTCTGTACGGCCCCTTCCCACAGCCACCCTTCTCACCAGCCCCCTCCAGTCCCAGATTTCCCACCAGCTGTGGTGTCTTCATTCCCATTGGGCGTCAGAATTGTCGTGTTCAGCCCCACTCCCAGCAGGGGCAGCTGCAGGAATAAGAGGGATGTGAATGGTAATGATGGCTTCAACATGGCGCTTGCTCTTCATTCCCTGGGTGTAGTCTGTCTGTGTCAGGAACCTGGGTCCCTCACCCACTACCCCTCCCCACCCACACGTTTCCTCTGTCATAGCTTCCGGTGGAAAGAACCTTATAAACCAGGGCTTTACAGAGGGTGTGGCAAATATGTGCTGTGTGACACGGGCTAAGTCCTCTAGGAGATTAGGTGCTGCTGTAAGGTGGTAAACAGAAACTAAAGCTGGATATACAATAGTGTCACAGACTCAAAAATCCTCAGCCCACCTAGATCCTGGGAAGGATCTGTTCACTACCACTAGCACCATTCTCAACCACCTTCTCCTCTAAATCATTACCTTCTATAATGGAAGTTCTGAACCCCCACCCCCGACATCACCGTTCTATGCCATGCCTCTTCCTTGACTTGGTCACCCTTAAATCTCTGTCAAAGCTCTACTGTTTTGGGAGGATGGAAAATACCGTCTTGGCTCCTGTGGGCACATATACAGCTGTCTTTCCTCTGATCTAATCCAAACCAGAATACCCACCCTTAGCTGCTGCCTGAGCTGGGTCCCTGTTGAGACTGGCGAGGAAGTGTGACTTATAATACAAAAATATTCTAGAAATGGAGGAACAACAATACTAGCTTCAAGCTTCCCATCTTCCCCCAACTCTGCTTCTCTTCCTGCCTTCCCCACCTCAGTCAATGGTATCGTCACCCTCTCAGTCACCCAGACTTGAAACCTCAGAATCAGCTTCAATTTCTCCCCCTCTCTCACCCAGAGAATATAACCCACTCTGCTTCTGTGGTGTTTCTCCCAACGGTTTCCTCCTTTCCATTACCACAGCCACTCTGCTAAATCAGTCTTTCATTAGCTCTAGTCATGATTCTATCTAGACTCCATCAACTGGCCTCCCTTTCTAAAGGCCCTCTGCTCTCTAATCCATTCTTCATCCTGTTGCCAGTTTTACCTTCCCCGAAAACACAGAGGTGATTGGAGAAGCCACTTACAGAAACTATTTATTCAGCAAACATTTATTACGTTTTTAATATGTGCCAGGCACTGTGCTTATGTTCTGGAAATAGACCAACAAGACATCCTCATATTTCTAGACACTCACAGAAAAGTGGGGAAGACATAAACAAGTAATACAACATAGTGTAACAAGTCCTATAGCATAAATGTAGAGATACTACAAAGTATGTGAGCACAGAAGAGGAAGTAACTAAATTTACCAAGATGGAGAGGGGGATAGTTTAGTGAAGGCTGTGCTGAAGAGGTGCTATTTCAGTGGCATCTTAAAGAATGAGTGTAATTTTACCAGACAGAAAGTGGTGTAGGATATTAAGCAAAGAAAAACAGCACTTGCCTGGGAGTCTCAGGAAAACTGGACTATATGGCCCAGCTTAGTATTTAGTATGTATCTTTAGTATGTATTAGTTTGCTAGGGCTGCCATAAGTTATCCCCAAACTGAGTGGCTTAAACCAACAGAAATTTATTCTCTCGGCTGGGTGCAGTGACTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGCAGN
pathogenic
335,595
Is the chromosome X, position 71119486 variant in MED12 (mediator complex subunit 12) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
benign
TTGTTTATTGTTATTTGTTACTTTTGTTACAGCACACTGGCTGTCTTTTCTCTAAAAGGCAATACAAGGCCGGCACAGTGGCGCACGCCTGTAGTCCAGGCTACTGGGAGGCTGAGGCGGGAGGATCGCTGGAGTCCAGAAGGTTGATGCTGCAGTGAGCCGTGATAGCGCCACTGCACTCCAGCCTAGGCGACAGAGGGAGAACCTGCCTCAAAATAAACAAATAGCAATACGACAATAGGATATTGGCTCTGGAATTCAGAATCTTAGTGCCAGCTCTGTTACTCAGTAGCTGTATAATATTGGATAAGTGAATTTTCACACTTTGAAAACCAGCTTCCTCCATCCGCAAAATCGAGCCAATAATAATCCCTAACTCATGAGGCTGTGAGCAGATTAAAGGAGATAGTGTCTGAAAAGCATCTGACACAATAGGTGCCTCTTTAGCTAGACCAAGGGTTCTTAACCTGGAGTTCATGGACCCTTAGGGGATACATGGATGAACTTCAGGGGATCTAAGAATCTAAAGCAACATTTTGCATGTCAATATATGCATATTATTATTATTATTATTATTATTTCTGGGAAGAAGGTCCATAGCTTTCATCAGCACCTTTAAGGGTTTGTGAATCAAAAACGTTAGTATGCGGTACCCTTGGGCAGAAAAACAAACAAGAAAAGGTTAGACAACTCGATGGTAGACCTTGAGGGATTAGAGCCAGCCTTTCAGGGTTTAATAGGTTCTTTCTCATGCATACATAGTTTCTAATGTTCACAATAGCCCCTTGAAGGAGGTGTTAGCGCACCTATTTTTCAGATGCCGGAACTAAGAAACGAACTGATCTGTAATAGACGGAGTTCCTAACCAATGCAAATATTATTGAAGACTTTTCTAGGCCAAAACCGAGCTAGGCTATGGGAACCGAAGTCCAGTCAGAACTCAGCACCACAGAGGCCTCCTTCTTCCCTGGTTTGCATCCCCAGCTCATTCTGCGCCTCCGGAACGTTTCATAGATTTTTGCTGAGTGAAATCGACTTGCTGCCGCCACCGCCGAAAAACTCCCGGGGCACAGAGCTCCGCCCCCACCGGGCCAGGCCCCACCTCCTCTGCAGTCGGTATTGTCCGATGGTTCCCGGCGTACCTCGGCTTCCCTCGGTAGTTTCCGGCAATGGTCGAGAGTTTCTAACGTGCCCCCTTGTTGTCTCTCGGCCGCCGTCCTCTCAACCACCGCCCCCCTTTTCGGCTCCCTCTCCCCCTTCCCGTTCCCCCAGTCAGCCTGGCCCTGCTGGTGCCTCCGGCGCTACGGGCTGGGCAAGATGGCGGCCTTCGGGATCTTGAGCTACGAACACCGGCCCCTGAAGCGGCCGCGGCTGGGGCCTCCCGATGTTTACCCTCAGGACCCCAAACAGAAGGAGGTGCGTTCGAAAATCGGGGCTCTGGAGGGGCCGGGGGCACGCGGTCAGCCTAGGAGGAGGCACTGACGGCTGGGAATGGGGGGCGGGGCGGTTCGGTGAGAGCAAAAGTCCCGAAAGGGGGAAGAGTAAAGTGGGCTGGCGTGGGAGGGCAGGACGGGGGGCGGTGGGGGGTTCCAAGGTATGAATAGGGGGTGGTGTAGGGGCCGCACCAGAGGCGCCCTCCTCCACACACACCTCAGAAAGTTGTCTGAGACAGCTTGGTGGGGTACGGCTGCTCGGCTGTTCGCAAGAGAAGAGTGATGTTTGAGGGCGCGCTGGGTGGCTGGGAATCCTAGTGACCATGGGAGTGAGGGTGGGGTCCAAGTGAACGTAAGGGCCCAGCTTTAAGTAACGATCTGTTCTACACGGAACCCTCCTCCTGCCCTTTCACCTTGTTCCTTCTTTTCTCCTGCCCTACTCTCCCACCCCTTCCCCCTTCCCCTAAGGAAAAAACAACTAAACGCCGCTTTCCTGCCTCAGGATGAACTGACGGCCTTGAATGTAAAACAAGGTTTCAATAACCAGCCTGCTGTCTCTGGGGATGAGCATGGCAGTGCCAAGAACGTCAGCTTCAATCCTGCCAAGGTGAGACAACTCTGCCAGGCTGAAGGAAAAGGCTGGAAGAATCTAAGAAGGAGCAAAGGCCCTGGGTTGGGAAGACTTATAGGGACAACCTAAGTGGCTGAGTTTGCCTTCATGACCTAATACTATCTCATTGGCATTTGCCCAGCAAAAGGCAGGACCACCTGTCTGCCCCTTCTTCCCACCCTGAGGTACACTTTTCTTCCCTCAGATCAGTTCCAACTTCAGCAGCATTATTGCAGAGAAATTACGTTGTAATACCCTTCCTGACACTGGTCGCAGGAAGCCCCAAGTGAACCAGAAGGATAACTTCTGGCTGGTGACTGCACGATCCCAGAGTGCCATTAACACTTGGTTCACTGACTTGGCTGGCACCAAGCCACTCACGCAACTAGCCAAAAAGGTAAGGTACTGTTTCCTGTCCTTCAGGCCAAGGAGGGAGCATGGGGTACCAAGTACCCTCCTATTCCCATATTAAGCTACATGGGTGTCAGCTCATGGGGATAATAGAGACCTCACTATTTGCAATGTCCATCCAGGTCCCCATTTTCAGTAAGAAGGAAGAGGTGTTTGGGTACTTAGCCAAATACACAGTGCCTGTGATGCGGGCTGCCTGGCTCATTAAGATGACCTGTGCCTACTATGCAGCAATCTCTGAGACCAAGGTTAAGAAGAGACATGTTGACCCTTTCATGGGTGAGTAACTCCTAACACCAGGTGTACTGCTGATGGCTTCAAGGAGTGATAGAGACACCCTTGGAACCATCCTCCTTCTTAATCTAGATTCCTTGTTTCTGCTTGTTTCTTGCATTTGTTTGATCAGTAAACACTGAGAAATTTGAGTGTCTACTGTGCGCATATACTGGGCTACAAAGATGTCCGGTGCATAATCTCTGCCCCTAGGATACTAGTAGTCTAACAGGGCTGCTAAGGTATATGTACAAATAACATAATTAAATATAGAAAGTGGTGAATGTCAAGCTAGGAGCAGAAGGTTCTTTGAGTGGACAAAAGATTACTTTCTTATGGGGGTACCCGGAAAGGCTTTAGGAAGGTGGGATTTGACTAGAGACTAAAAGGATGAACTGAATTTACAAATATGGTGATTAGGGGTGGGGGTAAGGTATTCTAAGTAGAAGGATTTTTTTTTTTTTGAGACAGAGCAAGACTCTGTCACCCAGGCTAGAGTGCAGTGGCAGGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTAAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACTGCGCCCGGCTAATTTTTGTATTTTTCTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGTAGAAGGATATTCTAAGCAGAAGGATAGTATCAAATAGCCCTTTTTCCCTCTTTCCTCCAGAATGGACTCAGATCATCACCAAGTACTTATGGGAGCAGTTACAGAAGATGGCTGAATACTACCGGCCAGGGCCTGCAGGAAGTGGGGGCTGTGGTTCCACGATAGGGCCCTTGCCCCATGATGTAGAGGTGGCAATCCGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAGGTAGAGAGTAGGGCATGCTGTGTGGGGCATTGGGTTGAGCTTGAACTTGTACTCTGCCAGTAGAGAACAGAATCTGCCTGCCACCTTGCCCCAGTTGTGGTTCTCTTCATCTTTTCATTTACTTTATCTGCTTCATCTCTAATAGTCCCCTCTTCCCTCCCCTGGTACCCATAGGATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCTGCTTCTCCGAGTAAGGCTTGGAATTTTGGTACTGGTGGGGCAGGGGGAGTCTAAGAAGAATTTGAGGAAGAATAAAATGTTAGAGCAGGGTCCCCTGGAGAGAACT
TTGTTTATTGTTATTTGTTACTTTTGTTACAGCACACTGGCTGTCTTTTCTCTAAAAGGCAATACAAGGCCGGCACAGTGGCGCACGCCTGTAGTCCAGGCTACTGGGAGGCTGAGGCGGGAGGATCGCTGGAGTCCAGAAGGTTGATGCTGCAGTGAGCCGTGATAGCGCCACTGCACTCCAGCCTAGGCGACAGAGGGAGAACCTGCCTCAAAATAAACAAATAGCAATACGACAATAGGATATTGGCTCTGGAATTCAGAATCTTAGTGCCAGCTCTGTTACTCAGTAGCTGTATAATATTGGATAAGTGAATTTTCACACTTTGAAAACCAGCTTCCTCCATCCGCAAAATCGAGCCAATAATAATCCCTAACTCATGAGGCTGTGAGCAGATTAAAGGAGATAGTGTCTGAAAAGCATCTGACACAATAGGTGCCTCTTTAGCTAGACCAAGGGTTCTTAACCTGGAGTTCATGGACCCTTAGGGGATACATGGATGAACTTCAGGGGATCTAAGAATCTAAAGCAACATTTTGCATGTCAATATATGCATATTATTATTATTATTATTATTATTTCTGGGAAGAAGGTCCATAGCTTTCATCAGCACCTTTAAGGGTTTGTGAATCAAAAACGTTAGTATGCGGTACCCTTGGGCAGAAAAACAAACAAGAAAAGGTTAGACAACTCGATGGTAGACCTTGAGGGATTAGAGCCAGCCTTTCAGGGTTTAATAGGTTCTTTCTCATGCATACATAGTTTCTAATGTTCACAATAGCCCCTTGAAGGAGGTGTTAGCGCACCTATTTTTCAGATGCCGGAACTAAGAAACGAACTGATCTGTAATAGACGGAGTTCCTAACCAATGCAAATATTATTGAAGACTTTTCTAGGCCAAAACCGAGCTAGGCTATGGGAACCGAAGTCCAGTCAGAACTCAGCACCACAGAGGCCTCCTTCTTCCCTGGTTTGCATCCCCAGCTCATTCTGCGCCTCCGGAACGTTTCATAGATTTTTGCTGAGTGAAATCGACTTGCTGCCGCCACCGCCGAAAAACTCCCGGGGCACAGAGCTCCGCCCCCACCGGGCCAGGCCCCACCTCCTCTGCAGTCGGTATTGTCCGATGGTTCCCGGCGTACCTCGGCTTCCCTCGGTAGTTTCCGGCAATGGTCGAGAGTTTCTAACGTGCCCCCTTGTTGTCTCTCGGCCGCCGTCCTCTCAACCACCGCCCCCCTTTTCGGCTCCCTCTCCCCCTTCCCGTTCCCCCAGTCAGCCTGGCCCTGCTGGTGCCTCCGGCGCTACGGGCTGGGCAAGATGGCGGCCTTCGGGATCTTGAGCTACGAACACCGGCCCCTGAAGCGGCCGCGGCTGGGGCCTCCCGATGTTTACCCTCAGGACCCCAAACAGAAGGAGGTGCGTTCGAAAATCGGGGCTCTGGAGGGGCCGGGGGCACGCGGTCAGCCTAGGAGGAGGCACTGACGGCTGGGAATGGGGGGCGGGGCGGTTCGGTGAGAGCAAAAGTCCCGAAAGGGGGAAGAGTAAAGTGGGCTGGCGTGGGAGGGCAGGACGGGGGGCGGTGGGGGGTTCCAAGGTATGAATAGGGGGTGGTGTAGGGGCCGCACCAGAGGCGCCCTCCTCCACACACACCTCAGAAAGTTGTCTGAGACAGCTTGGTGGGGTACGGCTGCTCGGCTGTTCGCAAGAGAAGAGTGATGTTTGAGGGCGCGCTGGGTGGCTGGGAATCCTAGTGACCATGGGAGTGAGGGTGGGGTCCAAGTGAACGTAAGGGCCCAGCTTTAAGTAACGATCTGTTCTACACGGAACCCTCCTCCTGCCCTTTCACCTTGTTCCTTCTTTTCTCCTGCCCTACTCTCCCACCCCTTCCCCCTTCCCCTAAGGAAAAAACAACTAAACGCCGCTTTCCTGCCTCAGGATGAACTGACGGCCTTGAATGTAAAACAAGGTTTCAATAACCAGCCTGCTGTCTCTGGGGATGAGCATGGCAGTGCCAAGAACGTCAGCTTCAATCCTGCCAAGGTGAGACAACTGCCAGGCTGAAGGAAAAGGCTGGAAGAATCTAAGAAGGAGCAAAGGCCCTGGGTTGGGAAGACTTATAGGGACAACCTAAGTGGCTGAGTTTGCCTTCATGACCTAATACTATCTCATTGGCATTTGCCCAGCAAAAGGCAGGACCACCTGTCTGCCCCTTCTTCCCACCCTGAGGTACACTTTTCTTCCCTCAGATCAGTTCCAACTTCAGCAGCATTATTGCAGAGAAATTACGTTGTAATACCCTTCCTGACACTGGTCGCAGGAAGCCCCAAGTGAACCAGAAGGATAACTTCTGGCTGGTGACTGCACGATCCCAGAGTGCCATTAACACTTGGTTCACTGACTTGGCTGGCACCAAGCCACTCACGCAACTAGCCAAAAAGGTAAGGTACTGTTTCCTGTCCTTCAGGCCAAGGAGGGAGCATGGGGTACCAAGTACCCTCCTATTCCCATATTAAGCTACATGGGTGTCAGCTCATGGGGATAATAGAGACCTCACTATTTGCAATGTCCATCCAGGTCCCCATTTTCAGTAAGAAGGAAGAGGTGTTTGGGTACTTAGCCAAATACACAGTGCCTGTGATGCGGGCTGCCTGGCTCATTAAGATGACCTGTGCCTACTATGCAGCAATCTCTGAGACCAAGGTTAAGAAGAGACATGTTGACCCTTTCATGGGTGAGTAACTCCTAACACCAGGTGTACTGCTGATGGCTTCAAGGAGTGATAGAGACACCCTTGGAACCATCCTCCTTCTTAATCTAGATTCCTTGTTTCTGCTTGTTTCTTGCATTTGTTTGATCAGTAAACACTGAGAAATTTGAGTGTCTACTGTGCGCATATACTGGGCTACAAAGATGTCCGGTGCATAATCTCTGCCCCTAGGATACTAGTAGTCTAACAGGGCTGCTAAGGTATATGTACAAATAACATAATTAAATATAGAAAGTGGTGAATGTCAAGCTAGGAGCAGAAGGTTCTTTGAGTGGACAAAAGATTACTTTCTTATGGGGGTACCCGGAAAGGCTTTAGGAAGGTGGGATTTGACTAGAGACTAAAAGGATGAACTGAATTTACAAATATGGTGATTAGGGGTGGGGGTAAGGTATTCTAAGTAGAAGGATTTTTTTTTTTTTGAGACAGAGCAAGACTCTGTCACCCAGGCTAGAGTGCAGTGGCAGGATCTTGGCTTACTGCAACCTCCACCTCCCGGGTTAAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACTGCGCCCGGCTAATTTTTGTATTTTTCTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAGTAGAAGGATATTCTAAGCAGAAGGATAGTATCAAATAGCCCTTTTTCCCTCTTTCCTCCAGAATGGACTCAGATCATCACCAAGTACTTATGGGAGCAGTTACAGAAGATGGCTGAATACTACCGGCCAGGGCCTGCAGGAAGTGGGGGCTGTGGTTCCACGATAGGGCCCTTGCCCCATGATGTAGAGGTGGCAATCCGGCAGTGGGATTACACCGAGAAGCTGGCCATGTTCATGTTTCAGGTAGAGAGTAGGGCATGCTGTGTGGGGCATTGGGTTGAGCTTGAACTTGTACTCTGCCAGTAGAGAACAGAATCTGCCTGCCACCTTGCCCCAGTTGTGGTTCTCTTCATCTTTTCATTTACTTTATCTGCTTCATCTCTAATAGTCCCCTCTTCCCTCCCCTGGTACCCATAGGATGGAATGCTGGACAGACATGAGTTCCTGACCTGGGTGCTTGAGTGTTTTGAGAAGATCCGCCCTGGAGAGGATGAATTGCTTAAACTGCTGCTGCCTCTGCTTCTCCGAGTAAGGCTTGGAATTTTGGTACTGGTGGGGCAGGGGGAGTCTAAGAAGAATTTGAGGAAGAATAAAATGTTAGAGCAGGGTCCCCTGGAGAGAACTNN
benign
335,614
Evaluate this variant at chromosome X, position 71123573, gene MED12: benign or pathogenic? If pathogenic, what are the disease connection(s)?
benign
GAGAGAACTAGGGGCTCTGATGGTCGTGTCTTCACAGTACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCACTCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTTATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGGTAGGTACTAGGCGGGCCCAAGGAAGCATTGAGAGATAGCCTGAGAAGAATCAGGTGCCCATCCCAGAGAATAGGGGTAATTCCAAATTGGATGTGGGAGTAGGTGCTGAGTACTTGCTTGGAGGTTGTTGTTTCTTGGTAATGGGGTGTTAGTCCCCTTTGGGGGTTTTCACCAGCCTCTCTCTCCCTTCCAAGGCTAAATAGTGGGCCCAAAGCCTTTTAGGAAAGTGAGTGAAGGGAGGGGATCGGGGTGGAGTGATGCCTGTCTTGGGGACCCAGTCAGAATAACTTTGGATCTGGAATCTACGGGTTGGGTCTTAGAATGGGATTCCAGAGGGGTAACCATGGTGAATGAGTTGGACTTAGCTGTTTCTATCTGGTAGACCATCCTCCTGTGCTGTCCTAGTGCCTTGGTTTGGCACTACTCACTGACTGATAGCAGAATTAAGACCGGCTCACCACTTGACCACTTGCCTATTGCCCCGTCCAACCTGCCCATGCCAGAGGGTAACAGTGCCTTCACTCAGCAGGTATGTCTGACCACTAGCCTGGTACTCTCAGATTGGGCTATGAGGCTAAATTACTCTTTCAGAAGTAGTGATTTGGAGTCTAGTACTATTCTTCTAGCCTGGGGCTCTGGCCTTTTATATGCCTTGGTACATCCTTGTAGCCTTCCTTTTTAACATTGCAGGTCCGTGCAAAGTTGCGGGAGATCGAGCAGCAGATCAAGGAGCGGGGACAGGCAGTTGAAGTTCGCTGGTCTTTCGATAAATGCCAGGAAGCTACTGCAGGTATGTGTCAGAGAACAGATAATAGGAAATATGTTTGAGGAAAGGATGGGGATAGTAAGGACATGTAGATCTAAGAGCCAGAATGCACCGGGCCTCTGGTTCAGTCCCCTTTACCACTTTTCCTCCTTAGGCTTCACCATTGGACGGGTACTTCATACTTTGGAAGTGCTGGACAGCCATAGTTTTGAACGCTCTGACTTCAGCAACTCTCTTGACTCCCTTTGTAACCGAATCTTTGGATTGGGACCTAGCAAGGATGGGCATGAGGTAAGCGAAAAGGGGAATAGAAGGAGCAAAAAACATTGCAAGAGCAATAATATGTCTGAGAGGGAAGTCATGGTGAGGCATTGAAAGCAGAGCATATCTGCAGAAATGATCTTACTGGGCCCAGGATGTTTTATGATAGAGCCCAGTCTTTAGGAAATTGGAACTCATTTCTTTGTCCCCACCCCTACCTTACTCCTCCTTCTCTTCCTTTGTTCTCCAGATCTCCTCAGATGATGATGCTGTGGTGTCATTGCTATGTGAATGGGCTGTCAGCTGCAAGCGTTCTGGTCGGCATCGTGCTATGGTGGTAGCCAAGCTCCTGGAGAAGAGACAGGCGGAGATTGAGGCTGAGGTTAGAGGGCAGAGATAAGAGAACAAGATTGGCCAATGGGAAGGAATTTACTGCGGTTGGAGACCGAGAGATGGAGGTGGTGGAGGGACCAGAGTTGAAGGTGTGAGAACAGAGTAAAGAAGCAAAAGAGAACCTAAAGGCAAAGTTACGGACGTGAGGCGAAAGTAGAGAAGAGTGGATTGTAGTAAGAGTTAGAGATAACATCAAGGCTTCAGTTGGGAGGTGGTAAAGAACATGGAGGTCAGCAGGGGAATGAAAGTGAAAAGCATGGGGTAGAGGTCAAGCAGGTGGTAGTTTAAGGCCTACACATTGAGGAGTGAAGAAGCAGGTAAAAGTCAGTTCTACAATTTGTTCTGTCATCTTGCAGCGTTGTGGAGAATCAGAAGCCGCAGATGAGAAGGGTTCCATCGCCTCTGGCTCCCTTTCTGCTCCCAGTGCTCCCATTTTCCAGGATGTCCTCCTGCAGTTTCTGGATACACAGGCTCCCATGCTGAGTACGGACCCCTACCACTCTCTAGTTACCTCTGCCTAGACTCAGTTACCCACCACTGTCATCAGAAAGCATAATTAACAGCCCTCTGGTCTATATTTCTCTCTTGGGCTCTATGCAGAATGACTTTTAGATGTAGTTCTAGTGATCCTCTTTAACTGGTCATCTTACAGTTAAACAGAGTAGAGAAATACAGAGAAGGATAAAAACAAGAGCTTGTGATTGAAGCATTTTCACTGCATAAATCGCAACAAAGATGTTACATTCCTTTCTGAGATGATGTGTGGGACAGCATGTGGGGTAACCAACCACACTTTGTCCCTCAACAATTTCTGGGATTTCTATTTGATCACTCTTATTATTGCCTTAGGTGTGTCCCTCTCTCTTTTGGCCCACCTTTTTGTGTTCTCCTAACTTATGTTTCCTCATTCCCTTCCTCCAGCGGACCCTCGAAGTGAGAGTGAGCGGGTGGAATTCTTTAACTTAGTACTGCTGTTCTGTGAACTGATTCGACATGATGTTTTCTCCCACAACATGTATACTTGCACTCTCATCTCCCGAGGGGACCTTGCCTTTGGAGCCCCTGGTCCCCGGCCTCCCTCTCCCTTTGATGATCCTGCCGATGACCCAGAGCACAAGGAGGCTGAAGGCAGCAGCAGCAGCAAGCTGGAAGTGAGTGGGCTTTTCCTTGCACTAGATCGTTTCTTCTGACATTTCCATCTTCATGGCTCCCAGGGGCCTCTAAGAGCCTCTTTTGCCTGGGGGAGGGGGGTAGTATTTTTCTTAGCACTTGGTGATTGACCAAGCACTCTCACATCAATTGTTTCATTGGTTCCTCCCATCAGCCTTGTGAGGTACTCTTATCCCCATTTTCAAACTGAAGAAAACAGAGGCCTATACTGGTTAAGTGATTGGATGAGGCTTGACTCCAGATCCTGTGCTTTCCCCAATCTGGTCTTCTCTCTCCACTTCCCCAATGAAGTTTTACAGATGGTGGGAGCCACTCCCTAGGGCTAAAGCAACTTCGCTTATGTTCTATGCCCTCAGGATCCAGGGCTCTCAGAATCTATGGACATTGACCCTAGTTCCAGTGTTCTCTTTGAGGACATGGAGAAGCCTGATTTCTCAGTAAGTTCAATCCTGAGCGTGGCAGAATCTGGATCCTTGGATCTTCCCATTATGCCTGCTTTTGGCATGTTTTTTTGCCCCCTCATCCACTTTCCTTCTTCTCATGTTCTGCTTTCTCACCTTTCTCTCAGTTGTTCTCCCCTACTATGCCCTGTGAGGGGAAGGGCAGTCCATCCCCTGAGAAGCCAGATGTCGAGAAGGAGGTGAAGCCCCCACCCAAGGAGAAGATTGAAGGGACCCTTGGGGTTCTTTACGACCAGCCACGACACGTGCAGTACGCCACCCATTTTCCCATCCCCCAGGTACTATTCCCCAGCACCTTGTGATGATCTGTTTTGAACCCAGATTGCTGTCAAAGGAATTTGCTGAGGGGTTGGAGCTGTTCTGAGGATGTGGGTTGGGAAAGGGAAGGGCTTTAGCATGTGGATGCTGAGGGGTGTGGAGCATGCTTTCAAGAGGAGGGAAGGAGATCGGTGCTGGAGTCTGATGGTGCTGCTGGGATGCAGGAGGAGTCATGCAGCCATGAGTGCAACCAGCGGTTGGTCGTACTGTTTGGGGTGGGAAAGCAGCGAGATGATGCCCGCCATGCCATCAAGAAAATCACCAAGGATATCTTGAAGGTTCTGAACCGCAAAGGGACAGCAGAAACTGGTGGGTTTGAGGCTCCTTAAACAGATCTCCCCCAAAGAATGCCCTAGTCAGTCTTCCCTTCCCCAGTATAGGGAACTCCCCAGTCATGTCCCAATGTCCTGTCTCTTGGAGTCTCCTGAGAGCTC
GAGAGAACTAGGGGCTCTGATGGTCGTGTCTTCACAGTACTCTGGGGAATTTGTTCAGTCTGCATACCTGTCCCGCCGGCTTGCCTACTTCTGTACACGGAGACTGGCCCTGCAGCTGGATGGTGTGAGCAGTCACTCATCTCATGTTATATCTGCTCAGTCAACAAGCACGCTACCCACCACCCCTGCTCCTCAGCCCCCAACTAGCAGCACACCCTCGACTCCCTTTAGTGACCTGCTTATGTGCCCTCAGCACCGGCCCCTGGTTTTTGGCCTCAGCTGTATCCTACAGGTAGGTACTAGGCGGGCCCAAGGAAGCATTGAGAGATAGCCTGAGAAGAATCAGGTGCCCATCCCAGAGAATAGGGGTAATTCCAAATTGGATGTGGGAGTAGGTGCTGAGTACTTGCTTGGAGGTTGTTGTTTCTTGGTAATGGGGTGTTAGTCCCCTTTGGGGGTTTTCACCAGCCTCTCTCTCCCTTCCAAGGCTAAATAGTGGGCCCAAAGCCTTTTAGGAAAGTGAGTGAAGGGAGGGGATCGGGGTGGAGTGATGCCTGTCTTGGGGACCCAGTCAGAATAACTTTGGATCTGGAATCTACGGGTTGGGTCTTAGAATGGGATTCCAGAGGGGTAACCATGGTGAATGAGTTGGACTTAGCTGTTTCTATCTGGTAGACCATCCTCCTGTGCTGTCCTAGTGCCTTGGTTTGGCACTACTCACTGACTGATAGCAGAATTAAGACCGGCTCACCACTTGACCACTTGCCTATTGCCCCGTCCAACCTGCCCATGCCAGAGGGTAACAGTGCCTTCACTCAGCAGGTATGTCTGACCACTAGCCTGGTACTCTCAGATTGGGCTATGAGGCTAAATTACTCTTTCAGAAGTAGTGATTTGGAGTCTAGTACTATTCTTCTAGCCTGGGGCTCTGGCCTTTTATATGCCTTGGTACATCCTTGTAGCCTTCCTTTTTAACATTGCAGGTCCGTGCAAAGTTGCGGGAGATCGAGCAGCAGATCAAGGAGCGGGGACAGGCAGTTGAAGTTCGCTGGTCTTTCGATAAATGCCAGGAAGCTACTGCAGGTATGTGTCAGAGAACAGATAATAGGAAATATGTTTGAGGAAAGGATGGGGATAGTAAGGACATGTAGATCTAAGAGCCAGAATGCACCGGGCCTCTGGTTCAGTCCCCTTTACCACTTTTCCTCCTTAGGCTTCACCATTGGACGGGTACTTCATACTTTGGAAGTGCTGGACAGCCATAGTTTTGAACGCTCTGACTTCAGCAACTCTCTTGACTCCCTTTGTAACCGAATCTTTGGATTGGGACCTAGCAAGGATGGGCATGAGGTAAGCGAAAAGGGGAATAGAAGGAGCAAAAAACATTGCAAGAGCAATAATATGTCTGAGAGGGAAGTCATGGTGAGGCATTGAAAGCAGAGCATATCTGCAGAAATGATCTTACTGGGCCCAGGATGTTTTATGATAGAGCCCAGTCTTTAGGAAATTGGAACTCATTTCTTTGTCCCCACCCCTACCTTACTCCTCCTTCTCTTCCTTTGTTCTCCAGATCTCCTCAGATGATGATGCTGTGGTGTCATTGCTATGTGAATGGGCTGTCAGCTGCAAGCGTTCTGGTCGGCATCGTGCTATGGTGGTAGCCAAGCTCCTGGAGAAGAGACAGGCGGAGATTGAGGCTGAGGTTAGAGGGCAGAGATAAGAGAACAAGATTGGCCAATGGGAAGGAATTTACTGCGGTTGGAGACCGAGAGATGGAGGTGGTGGAGGGACCAGAGTTGAAGGTGTGAGAACAGAGTAAAGAAGCAAAAGAGAACCTAAAGGCAAAGTTACGGACGTGAGGCGAAAGTAGAGAAGAGTGGATTGTAGTAAGAGTTAGAGATAACATCAAGGCTTCAGTTGGGAGGTGGTAAAGAACATGGAGGTCAGCAGGGGAATGAAAGTGAAAAGCATGGGGTAGAGGTCAAGCAGGTGGTAGTTTAAGGCCTACACATTGAGGAGTGAAGAAGCAGGTAAAAGTCAGTTCTACAATTCTGTCATCTTGCAGCGTTGTGGAGAATCAGAAGCCGCAGATGAGAAGGGTTCCATCGCCTCTGGCTCCCTTTCTGCTCCCAGTGCTCCCATTTTCCAGGATGTCCTCCTGCAGTTTCTGGATACACAGGCTCCCATGCTGAGTACGGACCCCTACCACTCTCTAGTTACCTCTGCCTAGACTCAGTTACCCACCACTGTCATCAGAAAGCATAATTAACAGCCCTCTGGTCTATATTTCTCTCTTGGGCTCTATGCAGAATGACTTTTAGATGTAGTTCTAGTGATCCTCTTTAACTGGTCATCTTACAGTTAAACAGAGTAGAGAAATACAGAGAAGGATAAAAACAAGAGCTTGTGATTGAAGCATTTTCACTGCATAAATCGCAACAAAGATGTTACATTCCTTTCTGAGATGATGTGTGGGACAGCATGTGGGGTAACCAACCACACTTTGTCCCTCAACAATTTCTGGGATTTCTATTTGATCACTCTTATTATTGCCTTAGGTGTGTCCCTCTCTCTTTTGGCCCACCTTTTTGTGTTCTCCTAACTTATGTTTCCTCATTCCCTTCCTCCAGCGGACCCTCGAAGTGAGAGTGAGCGGGTGGAATTCTTTAACTTAGTACTGCTGTTCTGTGAACTGATTCGACATGATGTTTTCTCCCACAACATGTATACTTGCACTCTCATCTCCCGAGGGGACCTTGCCTTTGGAGCCCCTGGTCCCCGGCCTCCCTCTCCCTTTGATGATCCTGCCGATGACCCAGAGCACAAGGAGGCTGAAGGCAGCAGCAGCAGCAAGCTGGAAGTGAGTGGGCTTTTCCTTGCACTAGATCGTTTCTTCTGACATTTCCATCTTCATGGCTCCCAGGGGCCTCTAAGAGCCTCTTTTGCCTGGGGGAGGGGGGTAGTATTTTTCTTAGCACTTGGTGATTGACCAAGCACTCTCACATCAATTGTTTCATTGGTTCCTCCCATCAGCCTTGTGAGGTACTCTTATCCCCATTTTCAAACTGAAGAAAACAGAGGCCTATACTGGTTAAGTGATTGGATGAGGCTTGACTCCAGATCCTGTGCTTTCCCCAATCTGGTCTTCTCTCTCCACTTCCCCAATGAAGTTTTACAGATGGTGGGAGCCACTCCCTAGGGCTAAAGCAACTTCGCTTATGTTCTATGCCCTCAGGATCCAGGGCTCTCAGAATCTATGGACATTGACCCTAGTTCCAGTGTTCTCTTTGAGGACATGGAGAAGCCTGATTTCTCAGTAAGTTCAATCCTGAGCGTGGCAGAATCTGGATCCTTGGATCTTCCCATTATGCCTGCTTTTGGCATGTTTTTTTGCCCCCTCATCCACTTTCCTTCTTCTCATGTTCTGCTTTCTCACCTTTCTCTCAGTTGTTCTCCCCTACTATGCCCTGTGAGGGGAAGGGCAGTCCATCCCCTGAGAAGCCAGATGTCGAGAAGGAGGTGAAGCCCCCACCCAAGGAGAAGATTGAAGGGACCCTTGGGGTTCTTTACGACCAGCCACGACACGTGCAGTACGCCACCCATTTTCCCATCCCCCAGGTACTATTCCCCAGCACCTTGTGATGATCTGTTTTGAACCCAGATTGCTGTCAAAGGAATTTGCTGAGGGGTTGGAGCTGTTCTGAGGATGTGGGTTGGGAAAGGGAAGGGCTTTAGCATGTGGATGCTGAGGGGTGTGGAGCATGCTTTCAAGAGGAGGGAAGGAGATCGGTGCTGGAGTCTGATGGTGCTGCTGGGATGCAGGAGGAGTCATGCAGCCATGAGTGCAACCAGCGGTTGGTCGTACTGTTTGGGGTGGGAAAGCAGCGAGATGATGCCCGCCATGCCATCAAGAAAATCACCAAGGATATCTTGAAGGTTCTGAACCGCAAAGGGACAGCAGAAACTGGTGGGTTTGAGGCTCCTTAAACAGATCTCCCCCAAAGAATGCCCTAGTCAGTCTTCCCTTCCCCAGTATAGGGAACTCCCCAGTCATGTCCCAATGTCCTGTCTCTTGGAGTCTCCTGAGAGCTCNNNN
benign
335,674
The genetic variant at chromosome X, position 71128574, affecting gene MED12 (mediator complex subunit 12): benign or pathogenic? Disease name(s) if pathogenic?
benign
GCCATATAGCGGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTT
GCCATATAGCGGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTNNNN
benign
335,748
Is the genetic mutation found on chromosome X at position 71128584, within the gene MED12 (mediator complex subunit 12), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
GGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTA
GGCTACGGAGGGTCATAAGGACAGGCGTAGAGGCTCCAGCCAGTTTCCCAAGCTATTTGAAGGGGCAGAAAGACTAGCATGGGGGGAGTGGAACATGAGCTAAGACTGCAGGAATAGAGACTTAAGTGCTCCCTGGGGAGGCCAAGAGGCAGATTAGAGCATTGGGCACAGACCATCCTCCCACTGTGGAGTTCATAGAACTGTATCCTGGACACTGGTTAGAGGTGTTGTTGATAGAATAAACTATCAACAATAAACTATCAATAGAGGTGTTGTTGATAGACTGTGGCATAGGGTAACGAGCCCTTCTATCCTGTGGTGGCTCCAGCAGGAAGGGGCTCAGGCCCAGCCTTGCCAGCGTCCCCACAGGAAGGTGGTTTCTATGTAACACAAGGGGCCTCTTTGCATTTCTCACCCCCGTTTACTCTGCTAGCTGCTGAATGAACTGAGTGTAGTTGAGGCTGAGCTGCTTCTCAAATCCTCGGATCTGGTGGGCAGCTACACTACTAGCCTGTGCCTGTGCATCGTGGCTGTCCTGCGGCACTATCATGCCTGCCTCATCCTCAACCAGGACCAGATGGCACAGGTCTTTGAGGGGTAAGCAGAGCTTCGGAATAACTGAAACAAAGCTCTGGCGAATGCCGGTGGAAGTGGCCTGGGAAGAGCATGCACTTCCTCACACTCTGGGGAAGCACCTGCTGCTCAGGTGGGAAAAGAATGGTATTTCCCAGAGGCTTGAATCTGTTTGGAGGAGCCCGCATACCATCTGCTGACCCTCCCAACCTTGCTTCTTCATGCAGGCTGTGTGGCGTCGTGAAGCATGGGATGAACCGGTCCGATGGCTCCTCTGCAGAGCGCTGTATCCTTGCTTATCTCTATGATCTGTACACCTCCTGTAGCCATTTAAAGAACAAATTTGGGGAGCTCTTCAGGTAAGAGAGGTGGAAGGTAAGGGGTAGCGAGTGGGACCTACTCCCTTCTTCCCATGACCACCCAACTCAGGAGGAGAGGATGGCCCGGGACCCTGCTGCCTGTCTAGGGTCATTTGTGGACTGTGTCCTCCACATACTGTTGTGTTACCAAGAGTGGGCCCTCTTCCTCAGCAGGCTTGCTCCCCGCCTATATCTGTGGGGCCCACCCTCTTCCCCCTTTTCCTCACTGCCTTCAGAGGCCCCAGTTCCTTATTCCCATGTGGTTCCTTTCCTGCCCAGTCTGTTTTGTCCCATCTCCCTTTTCTTGTCTCAAGATCCTTCATCCCTCACTTTCTCCTTTTTTTCTTTTCTCCCCTTTCCTGACCATCCCTCGACCTCAGCAGGCCTTCTTCAACACTACTATCTCCTTTCCTCCATCCCTGCAGCGACTTTTGCTCAAAGGTGAAGAACACCATCTACTGCAACGTGGAGCCATCGGAATCAAATATGCGCTGGGCACCTGAGTTCATGATCGACACTCTAGAGAACCCTGCAGCTCACACCTTCACCTACACGGGGCTAGGCAAGAGTCTTAGTGAGAACCCTGCTAACCGCTACAGCTTTGTCTGCAATGCCCTTATGCACGTCTGTGTGGGGCACCATGATCCCGATAGGTATGGGGTGTACTGAGTGAGGAAGGGCACCATGCCCCCATCTGAGATAGGGAGGGCTGAGGTACCCGGGAGGTACTACAACCTTGATTATTTAGTGGGGCAGAGATGAGAAGTTAATGGGTCTGAGGTTTTGTGGAGCAAGGTTTTTCCTGAGGGCATTTGTACTTTTCCCTAGGGTGAATGACATCGCAATCCTGTGTGCAGAGCTGACCGGCTATTGCAAGTCACTGAGTGCAGAATGGCTAGGAGTGCTTAAGGCCTTGTGCTGCTCCTCTAACAATGGCACTTGTGGTTTCAACGATCTCCTCTGCAATGTTGATGTGAGACTTGGGGTGGGGTTTTGCTAGTGGGGCAGTGACCAGGGCAGGGGGCTGGTTGTGATCCTCTGACCAGGGACAGAGTTCCGTAGAGTGGAGGCACACCGCTTTGAGTGGGCCTCCACACTGAGTCATGGTGTCTGTCTGTTTTTTTCCTCCAGGTCAGTGACCTATCTTTTCATGACTCGCTGGCTACTTTTGTTGCCATCCTCATCGCTCGGCAGTGTTTGCTCCTGGAAGATCTGATTCGCTGTGCTGCCATCCCTTCACTCCTTAATGCTGGTGAACTACCAATCTGTAACCCCTAGCATTTCTAGACCTCAAATTTCAATACACACTGGACGGCCATCCTCTCATTGTTCACTGTGGGAGACCTTGCTGCGGCTCCCTGGCCTTCCTCAGAAGGCCAGTCCTTTGGTATGCTGAAGGCTAGAAGAAACCTGTTTTTTAGCCCTGGATTTGCAGCCCTGACCTTTCCAATTTCTGACCCTTCAACTGCGTAACAGTTCTCTGCTCTACCTCGCTTTCAATATTATCTTGCTTTTTCTCCTTTCACTTTACCTCATCTTCTCTCCCATGCCCCTGCCATACACTTGCATGCATGCAGGCACGCACACACATAAACCCACATACAGTTTAACTTCATCCCTTCCAGATCTGTTTTGTCTTCCTTTTAGCTTGTAGTGAACAGGACTCTGAGCCAGGGGCCCGGCTTACCTGCCGCATCCTCCTTCACCTTTTCAAGACACCGCAGCTCAATCCTTGCCAGTCTGATGGAAGTAAGTGACCCTGATCTGAACCAGCCAACAGTAGAAAGTGTGGTTCCCCTGCCTCCGTGGATTCTACTTTTGCTTCCCCTGACTTCATCGCCTTCCCCAGACAAGCCTACAGTAGGAATCCGCTCCTCCTGCGACCGCCACCTGCTGGCTGCCTCCCAGAACCGCATCGTGGATGGAGCCGTGTTTGCTGTTCTCAAGGCTGTGTTTGTACTTGGTACGGGGGTAGGAAGGGAGTGGTGCCAGAAGTGTGTATAGGGTGGAGTGCCAGCTAAACTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCT
benign
335,750
A genetic alteration at chromosome X, position 71131537, in gene MED12 (mediator complex subunit 12)—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
CTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCT
CTACAAGGGACAGTCTTTCTCCCTTCTGAAGGTGGTCTCTCTGACCTTTGGGGAGGAGGGGAGGGAGAGAAGTATATTTCTGTCCCATAGGGCAGGATTTGGGGTGTTTCTACCTCTGTGGGCCCAGGGTGGGTCTCCACACGTGTTCCAATCTCACTCTGCCCTCCCTATCTCCCACCCGTGAACCACAGGGGATGCGGAACTGAAAGGTTCAGGCTTCACTGTGACAGGAGGAACAGAAGAACTTCCAGAGGAGGAGGGAGGAGGTGGCAGTGGTGGTCGGAGGCAGGGTGGCCGCAACATCTCTGTGGAGACAGCCAGTCTGGATGTCTATGCCAAGTACGTGCTGCGCAGCATCTGCCAACAGGTCAGTTTCACCTTCCTCCCACACCTCCTAAATGCCTCTGTGTAATATAGTTCTGTTTCCAGCCCATGATCACACCAGCTCCCTACTATACATTGTGTTCCTTAACAACTCCAGCCCATCCCCCATATTCCTAACCCCCTCACTGGTTGTTCCCAGTCCCTGATTGTCAGCTTCCTCAGGAATGGGTAGGAGAACGTTGCCTTAAGTCTCTGTGTGAGGACAGCAATGACCTGCAAGACCCAGTGTTGAGTAGTGCCCAGGCGCAGCGCCTCATGCAGCTCATTTGCTATCCACATCGACTGCTGGACAATGAGGATGGGGAAAACCCCCAGCGGCAGCGCATAAAGCGCATTCTCCAGGTAGGCCAAGGCCGTGGGGGCTGTGGAGGAAGCAGTGGGCCCAATCTGGGGAGAAACAATAGGAACCTTGAGAAAAGGAGAGGGGCAGTTAAGTAGAGAGGAAGACAAACAAGGATATAGGGGAGGGGAGAGGTAGCGAGAGAAACAGCTCCAGCATGGGCTGAGGAGTAAGTCCAGTAGGGTCTAGACTCCAGTGTAAGAGTATTAGGTGAGGGCATAGCTATCTGGAGTGAATCTAGCTTATCAATGGGAAGCATAGCATCTGGGAGGCCTAGGTGTGGGCCGTGTATATTTGGCATTTTGGCCATGGCTCAGGAACTGAATAGTAATAGCTACTACTTGCTGAGCATGTGCTTTGTGCCAGGTACTGTGCTAGGCACTCTGCACACATTTCCTCATTTAATCTTTATGACCCTATGAAGTAGGTGAGCCTCCCTGTTTGACCGATGAGGAAACTGAGGCTTGAAGAGGTTAAGTAACTTGTCTAACGTCACATAGCCCATAAGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTC
benign
335,780
A genetic variant at chromosome X, position 71132767, affecting gene MED12 (mediator complex subunit 12)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
benign
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAA
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGG
benign
335,796
A genetic alteration at chromosome X, position 71132767, in gene MED12 (mediator complex subunit 12)—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAA
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAANNNNN
benign
335,797
A mutation at chromosome position 71132767 on chromosome X in gene MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
benign
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAA
AGTTTAGAGTCAATATGTGAACCCAGACATGTCTGTGCACTTTCCTCTTCACATTGCTTCACACCTTCAGATGACCAGAGAGTGGAAAAATAAAGCCGTTGAGGAAAAGCTAAAGGAATAAGGTCTCTTCAGCCCAGAAGAGATAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
benign
335,798
Gene MED12 (mediator complex subunit 12) variant at chromosome X, position 71132910—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Cholestasis-pigmentary_retinopathy-cleft_palate_syndrome', 'MED12-related_disorder', 'Nonspecific_Intellectual_Disability']
TAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAACAACGCGAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAAGCGTGCATACATGAACCTGGCGAAGAAGTTGCAGGTAAGCAGAGGAAGCGGGGGCAAGGTTTGCGGTTACTGGAATCTGCTGTCCAGCCTCAGGAACTTGCTTCTGGCTGGAGCCCTCTACCTTTCCTTCTCACGTCTGCCTT
TAGTGTTGAAGAGAGATTAGCTAACAGTAGCCTTCTGGTCTCTACAGGACTTTGAGAGATTGTCTTATAAAGGTTCTGTCAGGGACTTTGAGCAGCTGGTCTAAAACAAGAGAAGCAGGCTTCAACTTTAACATCAAGGGTTTCAAGGTTAAGCATTAAGCAGAACTTCCTGATACGAAGGGATGGGAAAGATGTGAAATCTTTCCTGAACTATTTTAAAAATTGGAAAGATTTTCAACTAGTTTGGACTATTTAAATGTAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTGTCGCTCAGGCTGGAGTACAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAAGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAGGTCGCCCATCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGTCTCAGCCTCCCTAAATGTAGTCTTTCTTAAAGATGGGGACATAGAGGTCCCTTTCAGACCTCCAGGAGTCTGTGATTCAATGTTGCAGGAGATCAGGAATTGGCCTCAGATTGTTGGGTAGCTGGGGGTAACACGATGATGACTAGCCTGGGTGTGGGGCCTCTATCACAGAACTTGGACCAGTGGACCATGCGCCAGTCTTCCTTGGAGCTGCAGCTCATGATCAAGCAGACCCCTAACAATGTGAGTAGTGCCTGGACCCTCCCTTTCCTGTGCTCACGTTCAGCTCCATGTGTCAGGGAGGCGGTCCACCACAGAAGAACCTAGATCCTACCCTTGGGCTCTTGAGCTGAGAGATAAGAGGGGATGGGAAAATGGTGAACAAGTGGAGCTGATGATAAGGGAAATGGGTTGAGAGTGTTGGAGCTCTGAGCTGTGGGGAAGCTTGGTGGTGGTGGTGGAGCCTGTTTCTCTGGCCATAGATGTAAGGAGGTATGTAAAGGAGAAGACAGTGAGGAATTGGAGAAATATGGAGGTACTAGAGGGCATGATTCCCAACAGAGTTGCGTTCCTATCTCCCCATCAATCTCCGCCAGTGTTGTCCTTCTCCGTCATCTCCGATCTCTCCTACCATCTGCTTTCCTTCACCCTTAGCTACCTATTTTAGCACTTCTGTGCCTTTCATCCTCCCCAGGAGATGAACTCCCTCTTGGAGAACATCGCCAAGGCCACAATCGAGGTTTTCCAACAGTCAGCAGAGACAGGGTCATCTTCTGGAAGTACTGCAAGCAACATGCCCAGCAGCAGCAAGACCAAGCCTGTGCTCAGGTCGGATAGAAACATGTTAGGACCCATCCCCTTAGGAGTTTATCTGCTGGTAGCGTGAGTGATATCAGATGCGTGGAGATGCCAGCATGTCCATCAGGGAAAGGAGAGGATAGATTGTTCCAGCCTTGCCTGGCTCCCCTGTGACCCTGTGTCCTCTGTCTGTTCTCCAGCTCTCTAGAGCGCTCTGGTGTATGGCTGGTGGCCCCCCTCATTGCTAAACTGCCCACCTCAGTCCAGGGACATGTGTTAAAGGCTGCTGGGGAAGAATTGGAGAAGGGTCAGCACCTGGGTTCCTCTTCACGCAAAGAACGTGATCGACAAAAGCAGAAGAGGTAAAGGGGCTTAGGGAGTGGACCAAGATTGAGGGGTAGAAAGGAGAAGAGGCAGGCCCGGGGAAGAATAAAATGGGCCAAGGAGAAGCATCATAGGAAAGTGGAAAATCAGAGGATAAGAGTGGGCATGGCTGAGCAAGAGGCTAGATCTTAAGAGAGTAGTCTGGAGAATGAGGTTGGAAGTTGACTCCCAACCCACAGTCTCCCTTTTCTCCTCTCCTCTTCTCTCCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTTCTCTTGTCTCTAGCATGTCCCTATTGAGCCAGCAGCCCTTCTTATCGCTGGTGCTAACATGTCTGAAAGGGCAGGATGAAGGGACTCCTTACCTCCCTCTACAGCCAGGTGCACCAGGTACAGATCTCTGGGCCATGGAGGTGGGCAGGAGGTCAGGGAAGGATGCACCTAAGGGGTTACTCTGTACTTGGAAACTTCAGTACTTTCTGATAAACATATTGGCTGCTGTGGGATGGAAACACGAAGATCCCTGAGCTGCATATTTTATTTGTTTCTATTCTAGATTGTGAATAATTGGCGAGATGACCAGTACTTAGATGATTGCAAACCAAAGCAGCTTATGCATGAGGCACTCAAACTGCGGCTCAACCTGGTGAGAAGGCCAGCTGGGGAGAAGAAGGAAGAGGGTAGGGCTGGAAATGCGGAGTGCAAAAGCCTCAGGTTGGGGAGAATGGGGGTAAGGATAGAGGCCCCAGGTTATTCTGAGTCTTGAAGGGTTTTTTTTTTTTTTGGAGTCAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCGTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGTGTACCACCACACCTGGCTAATTTTTGTATTTTTCATAGAGATGGGGTTTGACCATGCTGGTCAGGCTGGTCTTGAACTCCTTACCTCAAATGATCCGTCTGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCTGAGTCTTGAAGTATTAACCTTGTTCTCTGAAAGTATGCAGGGACTGAAAGTGGTTAAGGGGGCTGGATCACTGTGGTCATGGTCCAATAGGTTATGTACCCTGGATCCTTGCAGGGCCTCTGCCTCAGTATCCTAGATTCTGACTGGGCCCTAGAAGCACTGGAAACCCACTGTGGAATGTTGAATGGAATCCTGGAAATCATTCTGTCCAATTCCCATCACTTTCTAAGTATGGAAACAGAGGCCTAGAGACGTCAAGAATTCCGTCATTGTCTTGAGATCATGTAGCAAATCATAGGCTCAACTCAAGCATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTTTGCAGTAAGCCGAGGTCGCGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACTCAAGCATGAACTCAGGCGTCCCAACTCAGATTGGAACTAAGCTTTCCTGAAACTCTGGCCTTTGTCCCTGAGCCATCTGACTGACTTGTTGTGGCCCTGGCAGGTGGGGGGCATGTTTGACACGGTGCAGCGCAGCACCCAGCAGACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAGCGGCACTGTCGACATGCAGTCCAACAAGTAAAGCATCCCCACCCGCTCCCTGCAGTTTCATACCCAAGAAGCTCCCCCTACTCCCATGCCAGGTGCACCCACTGAGATTGGTGTGGCTGTTACTGTGGACTCCGTGGCCCTGGGCTCCCCATACAGTTTTGGTGCCCTTGGGATGACATATTAAGCACCTCTCCCTGCTTGTGTCCTCTGCTGAGGCCTTTTTCTATCTTCACCTCTTTCTTCTTTGGTTTTCTCTCTGGCTTCCTGTCTCAGTGAGCTCTTCACTACTGTGTTGGACATGCTGAGCGTGCTCATCAATGGGACATTGGCTGCAGACATGTCTAGCATCTCGCAAGGTAGCATGGAGGAAAACAAGCGTGCATACATGAACCTGGCGAAGAAGTTGCAGGTAAGCAGAGGAAGCGGGGGCAAGGTTTGCGGTTACTGGAATCTGCTGTCCAGCCTCAGGAACTTGCTTCTGGCTGGAGCCCTCTACCTTTCCTTCTCACGTCTGCCTTNNNNNNNN
pathogenic
335,804
Does the chromosome X mutation at position 71137259 within gene MED12 (mediator complex subunit 12) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Cholestasis-pigmentary_retinopathy-cleft_palate_syndrome']
GGGCAACAAGATTGCTGGCTTCGATTCCATCTTCAAGAAGGAGGCATGTTCCATTGTCTGCCCGTGTCCCTTGCCTTTTTTCCCCTTTGGGCAAGAACTTTGCCTGCATCAGCTTTGTAGCTCCAACAGACTCATCAGATTCAGGAGCCCATCAGTCTCTGCCGGTGAACACCATCTCTGGGGTTTTGAGCAAATCACTTAACTTTCCTTACATTTCATCTCCATCTTTGAAGTCCCACCCTCTTTCCTTCACCCTGCCCTCACCTTTTAACATACCACCCATTTTTCAATACCCTACCCTCCTCTTTCCTCTGCTCCACCTGCCCCATGTCCTACCCCACCCATCTATCTGGCCGACAGCCTGTATCTCTTTTATTTCTGTGTTTCCCTACACCCACCCATCTCTGCACACTTTTATCTTTTCCCTCTCTGTCAGTTGCGGTATTTGTTGAGTAACCATAATTATTGTGTATAGTTTAAAACCCAAAGTCTAACTCCTTCATATATACATTCTCTTCATCTGTCTTCCTAGTCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCTTCATCTTGTGCCTCCACACCTCTCCCTGTGCCCCACCCTTCACTCTCTCCCCGCATAACTCTCTTCCGCATGTATATGTGTATCCATGTCTGTCTGTCTGCTTCTTACCATCTCTCCTGAATCTGCCTATGACTTTCTTTCTACCCATTCCTACAAATGCTTGCAGTCTTCTGTTTTCTAAGTCCCAACAGCTTATTGTTTTTCATTTTCTGGAGCAGGGTCTACAGGTTTCCACCAAACAGAAGATCTCGCCCTGGGATCTTTTTGAGGGGTTGAAGCCGTCAGCACCACTCTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGGAGAGGAGCAGCAGCGGTTGCTGCTCTACCACACACACCTGAGGCCCCGGCCCCGCGCCTATTACCTGGAGCCACTGCCACTGCCCCCAGAAGATGAGGAGCCGCCTGCTCCTACCCTGCTAGAGCCTGAGAAAAAGGCTCCAGAGCCCCCCAAAACTGACAAACCGGGGGCTGCTCCACCCAGTACTGAGGAACGCAAGAAGAAGTCCACCAAGGGCAAGAAACGCAGCCAGCCAGCTACCAAGACAGAGGTGAGCGCCTCCCCCGTGACAGTTCTCCCACAGCCTCTCACTTCATGACGCTCCGGTTTCTGGTTTGTGGGAGGGGTGGGGGCGCATAAGGAAGGGGTGCCATTAGAATCATAATAAAAATTAACCATATACGAATTCAGCTCCTCTTTACCTCATTCTCCCCCAGCTCCCCGACCCCATTCAGCTACAACCCACTCACCCTCTTCCTCTGCCACTCACACAGGACTATGGAATGGGCCCGGGTCGGAGCGGCCCTTATGGTGTGACAGTGCCTCCGGACCTCCTGCACCACCCAAACCCTGGTTCTATAACACACCTTAACTACAGGCAAGGCTCCATAGGCCTGTACACCCAGAACCAGCCACTACCTGCAGGTGAGTGCCAGCCACTAGGAATGCTGGAGGGACCTACCTGTACACTCCCCCTGCCCAAAGGATGATGCCATTCCCCTGAGGAGCTATGGATGTCAAGGACACTGAGCAAGAGACAGAGGGATGAGGAGCCTAGAGGTCAGCCCACTCTCCTTTTCAGGTGGCCCTCGTGTGGACCCATACCGTCCTGTGCGCTTACCAATGCAGAAGCTGCCCACCCGACCAACTTACCCTGGAGTGCTGCCCACAACCATGACTGGCGTCATGGGTTTAGAACCCTCCTCTTATAAGACCTCTGTGTACCGGCAGCAGCAACCTGCGGTGCCCCAAGGACAGCGCCTTCGCCAACAGCTCCAGGCAAAGATAGTGAGAGGGGCAGTAGGGAGGGCTGTCAGGGAGAGGGGCTTTTGAGGGTCACAGGACGGAGGAGACACTTGGGATCTTCACAAGGACACTCAGGGTGGGAGACACAAGAGATGAGATGGCAGCAAGCATTTCCTGAGTTTGAGTTGTTCTCTTTTCTCCCTTTAGCAGAGTCAGGGCATGTTGGGACAGTCATCTGTCCATCAGATGACTCCCAGCTCTTCCTACGGTTTGCAGACTTCCCAGGTAAGAGCCTGGGATTGTGAGACTAGGGGGATGAGGCAAGCTGCTCTGCATACTCTCGGCCCTGATTCCCTCTCTCCTTCTTCCCTCCAGGGCTATACTCCTTATGTTTCTCATGTGGGATTGCAGCAACACACAGGCCCTGCAGGTACCATGGTGCCCCCCAGCTACTCCAGCCAGCCTTACCAGAGCACCCACCCTTCTACCAATCCTACTCTTGTAGATCCTACCCGCCACCTGCAACAGCGGCCCAGTGGCTATGTGCACCAGCAGGCCCCCACCTATGGACATGGACTGACCTCCACTCAAAGGTACCCAAAGTAGTGGTGAGCTAGGAAGAGATGCAGAGGTATAAGGGAGCATTTGACTTGGGAAAGCCTGTGCCTGAAAGTGGTGGGACTGGTCAGAACTTTCGGAGACATCAAGAATACTTATCTGGCCACATAGCCCATAACCACAGAAGTCTCGAGCTGGAAGGGACCCTGGAGACCAATAGTTTCATGACTACTTCCTTAACAGTTCTTTGAGGCCCAGAGAGGGGAAATTGTTTATCTGACTCAAGGAAAAATCTGGGCTGGGTGTGGTAGCTCACACTGGTAGTCCCAGCACTTGGGGGCCCAAGGTGGGAGAATCAGTTGATTCCAGGAATTCGAGGCCAGCCTGGGCAACATAGGGAGATCCCATCTCTACAAAAAAAATACATATTTTTTTGAAACAGAGTCGCACTCCATTTGCCCAGGCTGGAGTGTCGTGGCATGATCATGGCTCACTGCAGCCTCGACCTCTGAGGCTCAGGTGATCCTCCTACCTCAGCCTCCCAAGTAGCTAGAACTACAGGCACACACCACCACGCCCAGCTAATTTTTTGGATTTTTAGTTGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTGAGCCACCACACCTGGCCAAAAAAAAATTTTTTTTTAATTAGACAGGCGTGTTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAAGATTGCTTGAGCTTGGGAGTTTGAGGCTGCAGTGAGCTGTAATCGCACAATGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGA
GGGCAACAAGATTGCTGGCTTCGATTCCATCTTCAAGAAGGAGGCATGTTCCATTGTCTGCCCGTGTCCCTTGCCTTTTTTCCCCTTTGGGCAAGAACTTTGCCTGCATCAGCTTTGTAGCTCCAACAGACTCATCAGATTCAGGAGCCCATCAGTCTCTGCCGGTGAACACCATCTCTGGGGTTTTGAGCAAATCACTTAACTTTCCTTACATTTCATCTCCATCTTTGAAGTCCCACCCTCTTTCCTTCACCCTGCCCTCACCTTTTAACATACCACCCATTTTTCAATACCCTACCCTCCTCTTTCCTCTGCTCCACCTGCCCCATGTCCTACCCCACCCATCTATCTGGCCGACAGCCTGTATCTCTTTTATTTCTGTGTTTCCCTACACCCACCCATCTCTGCACACTTTTATCTTTTCCCTCTCTGTCAGTTGCGGTATTTGTTGAGTAACCATAATTATTGTGTATAGTTTAAAACCCAAAGTCTAACTCCTTCATATATACATTCTCTTCATCTGTCTTCCTAGTCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCTTCATCTTGTGCCTCCACACCTCTCCCTGTGCCCCACCCTTCACTCTCTCCCCGCATAACTCTCTTCCGCATGTATATGTGTATCCATGTCTGTCTGTCTGCTTCTTACCATCTCTCCTGAATCTGCCTATGACTTTCTTTCTACCCATTCCTACAAATGCTTGCAGTCTTCTGTTTTCTAAGTCCCAACAGCTTATTGTTTTTCATTTTCTGGAGCAGGGTCTACAGGTTTCCACCAAACAGAAGATCTCGCCCTGGGATCTTTTTGAGGGGTTGAAGCCGTCAGCACCACTCTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGGAGAGGAGCAGCAGCGGTTGCTGCTCTACCACACACACCTGAGGCCCCGGCCCCGCGCCTATTACCTGGAGCCACTGCCACTGCCCCCAGAAGATGAGGAGCCGCCTGCTCCTACCCTGCTAGAGCCTGAGAAAAAGGCTCCAGAGCCCCCCAAAACTGACAAACCGGGGGCTGCTCCACCCAGTACTGAGGAACGCAAGAAGAAGTCCACCAAGGGCAAGAAACGCAGCCAGCCAGCTACCAAGACAGAGGTGAGCGCCTCCCCCGTGACAGTTCTCCCACAGCCTCTCACTTCATGACGCTCCGGTTTCTGGTTTGTGGGAGGGGTGGGGGCGCATAAGGAAGGGGTGCCATTAGAATCATAATAAAAATTAACCATATACGAATTCAGCTCCTCTTTACCTCATTCTCCCCCAGCTCCCCGACCCCATTCAGCTACAACCCACTCACCCTCTTCCTCTGCCACTCACACAGGACTATGGAATGGGCCCGGGTCGGAGCGGCCCTTATGGTGTGACAGTGCCTCCGGACCTCCTGCACCACCCAAACCCTGGTTCTATAACACACCTTAACTACAGGCAAGGCTCCATAGGCCTGTACACCCAGAACCAGCCACTACCTGCAGGTGAGTGCCAGCCACTAGGAATGCTGGAGGGACCTACCTGTACACTCCCCCTGCCCAAAGGATGATGCCATTCCCCTGAGGAGCTATGGATGTCAAGGACACTGAGCAAGAGACAGAGGGATGAGGAGCCTAGAGGTCAGCCCACTCTCCTTTTCAGGTGGCCCTCGTGTGGACCCATACCGTCCTGTGCGCTTACCAATGCAGAAGCTGCCCACCCGACCAACTTACCCGGAGTGCTGCCCACAACCATGACTGGCGTCATGGGTTTAGAACCCTCCTCTTATAAGACCTCTGTGTACCGGCAGCAGCAACCTGCGGTGCCCCAAGGACAGCGCCTTCGCCAACAGCTCCAGGCAAAGATAGTGAGAGGGGCAGTAGGGAGGGCTGTCAGGGAGAGGGGCTTTTGAGGGTCACAGGACGGAGGAGACACTTGGGATCTTCACAAGGACACTCAGGGTGGGAGACACAAGAGATGAGATGGCAGCAAGCATTTCCTGAGTTTGAGTTGTTCTCTTTTCTCCCTTTAGCAGAGTCAGGGCATGTTGGGACAGTCATCTGTCCATCAGATGACTCCCAGCTCTTCCTACGGTTTGCAGACTTCCCAGGTAAGAGCCTGGGATTGTGAGACTAGGGGGATGAGGCAAGCTGCTCTGCATACTCTCGGCCCTGATTCCCTCTCTCCTTCTTCCCTCCAGGGCTATACTCCTTATGTTTCTCATGTGGGATTGCAGCAACACACAGGCCCTGCAGGTACCATGGTGCCCCCCAGCTACTCCAGCCAGCCTTACCAGAGCACCCACCCTTCTACCAATCCTACTCTTGTAGATCCTACCCGCCACCTGCAACAGCGGCCCAGTGGCTATGTGCACCAGCAGGCCCCCACCTATGGACATGGACTGACCTCCACTCAAAGGTACCCAAAGTAGTGGTGAGCTAGGAAGAGATGCAGAGGTATAAGGGAGCATTTGACTTGGGAAAGCCTGTGCCTGAAAGTGGTGGGACTGGTCAGAACTTTCGGAGACATCAAGAATACTTATCTGGCCACATAGCCCATAACCACAGAAGTCTCGAGCTGGAAGGGACCCTGGAGACCAATAGTTTCATGACTACTTCCTTAACAGTTCTTTGAGGCCCAGAGAGGGGAAATTGTTTATCTGACTCAAGGAAAAATCTGGGCTGGGTGTGGTAGCTCACACTGGTAGTCCCAGCACTTGGGGGCCCAAGGTGGGAGAATCAGTTGATTCCAGGAATTCGAGGCCAGCCTGGGCAACATAGGGAGATCCCATCTCTACAAAAAAAATACATATTTTTTTGAAACAGAGTCGCACTCCATTTGCCCAGGCTGGAGTGTCGTGGCATGATCATGGCTCACTGCAGCCTCGACCTCTGAGGCTCAGGTGATCCTCCTACCTCAGCCTCCCAAGTAGCTAGAACTACAGGCACACACCACCACGCCCAGCTAATTTTTTGGATTTTTAGTTGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTGAGCCACCACACCTGGCCAAAAAAAAATTTTTTTTTAATTAGACAGGCGTGTTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAAGATTGCTTGAGCTTGGGAGTTTGAGGCTGCAGTGAGCTGTAATCGCACAATGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAN
pathogenic
335,849
Evaluate this variant at chromosome X, position 71137791, gene MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['FG_syndrome_1', 'MED12-related_intellectual_disability_syndrome']
TCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCTTCATCTTGTGCCTCCACACCTCTCCCTGTGCCCCACCCTTCACTCTCTCCCCGCATAACTCTCTTCCGCATGTATATGTGTATCCATGTCTGTCTGTCTGCTTCTTACCATCTCTCCTGAATCTGCCTATGACTTTCTTTCTACCCATTCCTACAAATGCTTGCAGTCTTCTGTTTTCTAAGTCCCAACAGCTTATTGTTTTTCATTTTCTGGAGCAGGGTCTACAGGTTTCCACCAAACAGAAGATCTCGCCCTGGGATCTTTTTGAGGGGTTGAAGCCGTCAGCACCACTCTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGGAGAGGAGCAGCAGCGGTTGCTGCTCTACCACACACACCTGAGGCCCCGGCCCCGCGCCTATTACCTGGAGCCACTGCCACTGCCCCCAGAAGATGAGGAGCCGCCTGCTCCTACCCTGCTAGAGCCTGAGAAAAAGGCTCCAGAGCCCCCCAAAACTGACAAACCGGGGGCTGCTCCACCCAGTACTGAGGAACGCAAGAAGAAGTCCACCAAGGGCAAGAAACGCAGCCAGCCAGCTACCAAGACAGAGGTGAGCGCCTCCCCCGTGACAGTTCTCCCACAGCCTCTCACTTCATGACGCTCCGGTTTCTGGTTTGTGGGAGGGGTGGGGGCGCATAAGGAAGGGGTGCCATTAGAATCATAATAAAAATTAACCATATACGAATTCAGCTCCTCTTTACCTCATTCTCCCCCAGCTCCCCGACCCCATTCAGCTACAACCCACTCACCCTCTTCCTCTGCCACTCACACAGGACTATGGAATGGGCCCGGGTCGGAGCGGCCCTTATGGTGTGACAGTGCCTCCGGACCTCCTGCACCACCCAAACCCTGGTTCTATAACACACCTTAACTACAGGCAAGGCTCCATAGGCCTGTACACCCAGAACCAGCCACTACCTGCAGGTGAGTGCCAGCCACTAGGAATGCTGGAGGGACCTACCTGTACACTCCCCCTGCCCAAAGGATGATGCCATTCCCCTGAGGAGCTATGGATGTCAAGGACACTGAGCAAGAGACAGAGGGATGAGGAGCCTAGAGGTCAGCCCACTCTCCTTTTCAGGTGGCCCTCGTGTGGACCCATACCGTCCTGTGCGCTTACCAATGCAGAAGCTGCCCACCCGACCAACTTACCCTGGAGTGCTGCCCACAACCATGACTGGCGTCATGGGTTTAGAACCCTCCTCTTATAAGACCTCTGTGTACCGGCAGCAGCAACCTGCGGTGCCCCAAGGACAGCGCCTTCGCCAACAGCTCCAGGCAAAGATAGTGAGAGGGGCAGTAGGGAGGGCTGTCAGGGAGAGGGGCTTTTGAGGGTCACAGGACGGAGGAGACACTTGGGATCTTCACAAGGACACTCAGGGTGGGAGACACAAGAGATGAGATGGCAGCAAGCATTTCCTGAGTTTGAGTTGTTCTCTTTTCTCCCTTTAGCAGAGTCAGGGCATGTTGGGACAGTCATCTGTCCATCAGATGACTCCCAGCTCTTCCTACGGTTTGCAGACTTCCCAGGTAAGAGCCTGGGATTGTGAGACTAGGGGGATGAGGCAAGCTGCTCTGCATACTCTCGGCCCTGATTCCCTCTCTCCTTCTTCCCTCCAGGGCTATACTCCTTATGTTTCTCATGTGGGATTGCAGCAACACACAGGCCCTGCAGGTACCATGGTGCCCCCCAGCTACTCCAGCCAGCCTTACCAGAGCACCCACCCTTCTACCAATCCTACTCTTGTAGATCCTACCCGCCACCTGCAACAGCGGCCCAGTGGCTATGTGCACCAGCAGGCCCCCACCTATGGACATGGACTGACCTCCACTCAAAGGTACCCAAAGTAGTGGTGAGCTAGGAAGAGATGCAGAGGTATAAGGGAGCATTTGACTTGGGAAAGCCTGTGCCTGAAAGTGGTGGGACTGGTCAGAACTTTCGGAGACATCAAGAATACTTATCTGGCCACATAGCCCATAACCACAGAAGTCTCGAGCTGGAAGGGACCCTGGAGACCAATAGTTTCATGACTACTTCCTTAACAGTTCTTTGAGGCCCAGAGAGGGGAAATTGTTTATCTGACTCAAGGAAAAATCTGGGCTGGGTGTGGTAGCTCACACTGGTAGTCCCAGCACTTGGGGGCCCAAGGTGGGAGAATCAGTTGATTCCAGGAATTCGAGGCCAGCCTGGGCAACATAGGGAGATCCCATCTCTACAAAAAAAATACATATTTTTTTGAAACAGAGTCGCACTCCATTTGCCCAGGCTGGAGTGTCGTGGCATGATCATGGCTCACTGCAGCCTCGACCTCTGAGGCTCAGGTGATCCTCCTACCTCAGCCTCCCAAGTAGCTAGAACTACAGGCACACACCACCACGCCCAGCTAATTTTTTGGATTTTTAGTTGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTGAGCCACCACACCTGGCCAAAAAAAAATTTTTTTTTAATTAGACAGGCGTGTTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAAGATTGCTTGAGCTTGGGAGTTTGAGGCTGCAGTGAGCTGTAATCGCACAATGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTG
TCCATCTGTCTCTTTTCCTCCGTCTCTGTCTCTCTCCCTGTCTGACTCGTTTGCCTTTCTTTGTCTCTCCACCTTTTTGTCTCTCTCTTCCTGTTTCTTTCTCTCTCTGACTCTTTCTCGGCCTGCCTAAAGGCAGAGTCTCTCCCTGCCTTCCTCTCTCTCTTTCTCTGCCTTCCTTTTTCTGTCTTCCTCTGAATGTCAATCCCTCTCCCTCCCCGCTCCCTCTCTGGCTTTCTCCCCAACCCCTTTCTCTCCCGATCTTCTCTCCCCACACGCCCCCCGCCCCGTTAGTTCATCTCCTCTCCTGGTCTGGGCTGGCTTCATCTTGTGCCTCCACACCTCTCCCTGTGCCCCACCCTTCACTCTCTCCCCGCATAACTCTCTTCCGCATGTATATGTGTATCCATGTCTGTCTGTCTGCTTCTTACCATCTCTCCTGAATCTGCCTATGACTTTCTTTCTACCCATTCCTACAAATGCTTGCAGTCTTCTGTTTTCTAAGTCCCAACAGCTTATTGTTTTTCATTTTCTGGAGCAGGGTCTACAGGTTTCCACCAAACAGAAGATCTCGCCCTGGGATCTTTTTGAGGGGTTGAAGCCGTCAGCACCACTCTCTTGGGGCTGGTTTGGAACAGTCCGAGTGGACCGGCGAGTGGCTCGAGGAGAGGAGCAGCAGCGGTTGCTGCTCTACCACACACACCTGAGGCCCCGGCCCCGCGCCTATTACCTGGAGCCACTGCCACTGCCCCCAGAAGATGAGGAGCCGCCTGCTCCTACCCTGCTAGAGCCTGAGAAAAAGGCTCCAGAGCCCCCCAAAACTGACAAACCGGGGGCTGCTCCACCCAGTACTGAGGAACGCAAGAAGAAGTCCACCAAGGGCAAGAAACGCAGCCAGCCAGCTACCAAGACAGAGGTGAGCGCCTCCCCCGTGACAGTTCTCCCACAGCCTCTCACTTCATGACGCTCCGGTTTCTGGTTTGTGGGAGGGGTGGGGGCGCATAAGGAAGGGGTGCCATTAGAATCATAATAAAAATTAACCATATACGAATTCAGCTCCTCTTTACCTCATTCTCCCCCAGCTCCCCGACCCCATTCAGCTACAACCCACTCACCCTCTTCCTCTGCCACTCACACAGGACTATGGAATGGGCCCGGGTCGGAGCGGCCCTTATGGTGTGACAGTGCCTCCGGACCTCCTGCACCACCCAAACCCTGGTTCTATAACACACCTTAACTACAGGCAAGGCTCCATAGGCCTGTACACCCAGAACCAGCCACTACCTGCAGGTGAGTGCCAGCCACTAGGAATGCTGGAGGGACCTACCTGTACACTCCCCCTGCCCAAAGGATGATGCCATTCCCCTGAGGAGCTATGGATGTCAAGGACACTGAGCAAGAGACAGAGGGATGAGGAGCCTAGAGGTCAGCCCACTCTCCTTTTCAGGTGGCCCTCGTGTGGACCCATACCGTCCTGTGCGCTTACCAATGCAGAAGCTGCCCACCCGACCAACTTACCCTGGAGTGCTGCCCACAACCATGACTGGCGTCATGGGTTTAGAACCCTCCTCTTATAAGACCTCTGTGTACCGGCAGCAGCAACCTGCGGTGCCCCAAGGACAGCGCCTTCGCCAACAGCTCCAGGCAAAGATAGTGAGAGGGGCAGTAGGGAGGGCTGTCAGGGAGAGGGGCTTTTGAGGGTCACAGGACGGAGGAGACACTTGGGATCTTCACAAGGACACTCAGGGTGGGAGACACAAGAGATGAGATGGCAGCAAGCATTTCCTGAGTTTGAGTTGTTCTCTTTTCTCCCTTTAGCAGAGTCAGGGCATGTTGGGACAGTCATCTGTCCATCAGATGACTCCCAGCTCTTCCTACGGTTTGCAGACTTCCCAGGTAAGAGCCTGGGATTGTGAGACTAGGGGGATGAGGCAAGCTGCTCTGCATACTCTCGGCCCTGATTCCCTCTCTCCTTCTTCCCTCCAGGGCTATACTCCTTATGTTTCTCATGTGGGATTGCAGCAACACACAGGCCCTGCAGGTACCATGGTGCCCCCCCAGCTACTCCAGCCAGCCTTACCAGAGCACCCACCCTTCTACCAATCCTACTCTTGTAGATCCTACCCGCCACCTGCAACAGCGGCCCAGTGGCTATGTGCACCAGCAGGCCCCCACCTATGGACATGGACTGACCTCCACTCAAAGGTACCCAAAGTAGTGGTGAGCTAGGAAGAGATGCAGAGGTATAAGGGAGCATTTGACTTGGGAAAGCCTGTGCCTGAAAGTGGTGGGACTGGTCAGAACTTTCGGAGACATCAAGAATACTTATCTGGCCACATAGCCCATAACCACAGAAGTCTCGAGCTGGAAGGGACCCTGGAGACCAATAGTTTCATGACTACTTCCTTAACAGTTCTTTGAGGCCCAGAGAGGGGAAATTGTTTATCTGACTCAAGGAAAAATCTGGGCTGGGTGTGGTAGCTCACACTGGTAGTCCCAGCACTTGGGGGCCCAAGGTGGGAGAATCAGTTGATTCCAGGAATTCGAGGCCAGCCTGGGCAACATAGGGAGATCCCATCTCTACAAAAAAAATACATATTTTTTTGAAACAGAGTCGCACTCCATTTGCCCAGGCTGGAGTGTCGTGGCATGATCATGGCTCACTGCAGCCTCGACCTCTGAGGCTCAGGTGATCCTCCTACCTCAGCCTCCCAAGTAGCTAGAACTACAGGCACACACCACCACGCCCAGCTAATTTTTTGGATTTTTAGTTGAGATGGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTGAGCCACCACACCTGGCCAAAAAAAAATTTTTTTTTAATTAGACAGGCGTGTTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAAGATTGCTTGAGCTTGGGAGTTTGAGGCTGCAGTGAGCTGTAATCGCACAATGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTT
pathogenic
335,863
Considering the variant on chromosome X, location 71140749, involving gene MED12 (mediator complex subunit 12), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
benign
TGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTT
TGAGCCGAGATTGTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTNNNNNNNNN
benign
335,875
Clinically, how would you classify the variant at chromosome X, position 71140761, gene MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, specify the associated illness(es).
benign
GTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCC
GTGCCACAGCACTCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCG
benign
335,878
Gene MED12 (mediator complex subunit 12) variant at chromosome position 71140773 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
TCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGAT
TCCAGTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCAT
benign
335,880
Classify the chromosome X variant at position 71140797 affecting gene MED12 (mediator complex subunit 12) as benign or pathogenic. If pathogenic, which disease(s) is associated?
benign
TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGT
TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAA
benign
335,885
Variant in MED12 (mediator complex subunit 12), chromosome X, position 71140797—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
benign
TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGT
TGTCTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTNNN
benign
335,887
Mutation at chromosome X, position 71140800, within MED12 (mediator complex subunit 12): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['FG_syndrome_1', 'MED12-related_disorder']
CTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCT
CTCAAAAAAAAAAGAAGAAAGAAAAGAAAAAGAAAAAAATATCTGGAGTTCATAGATGAACTACATGATAAGGAGTCGTAAAGCCAGTACCGGCTTTGAATACCAGGTTAAATACCAGGATGGACAAATGAATGAATCCTCCCACCATGGTTAACGTTAGTCAAGCCTTAGTTGAGGCCTTGTAACCATGTATAGAGACTCTGAAGCTTAGGATTAAGAACACTGGGGAGTGGGCTAACTGCCCATTGTGTGGCCAGCACTATACCAGGACTGGGTGAGGTGAAGAAAGATAGCAAAAAAAACCCCCACGATACATAGTTCCTCACTACAAAGAATCTTTACTATAGCTGGGGAGATGAGACTTATAGAAGAATATTGAGAGAACACTCTGAGCAAAGATATAATCAGGTATGCAGTTGTATGCTATGAGGTAAAATGTGGATTGAGAAAAAGTACGTGGTAATATCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCTN
pathogenic
335,889
For chromosome X, position 71141265, gene MED12 (mediator complex subunit 12): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
benign
TCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAAGCGTGAGCCACCGCGCCCGGCCTAAATTTCTTAATTCTAATTGGATTGCTACCCTCTCTTCCTCTTCTTCAACATGGCAACACATTAAGGTATAGGCCCTTAGTCTCTTTTTATTTATTTTTGAGATGGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTTCAGTGGCACAGTCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTATCCTGCCTCAGAGCCTCTCGAGTAGCTGGGATTACAGGCATATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCGCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGTCCCCTTAGTCTTTTAAGAAGGGGCAATGAACATTCTCAACTAAATGTTGG
TCTGTGGGCCTGACTCATCAGAGAATGTTTCATGAAGGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAAGCGTGAGCCACCGCGCCCGGCCTAAATTTCTTAATTCTAATTGGATTGCTACCCTCTCTTCCTCTTCTTCAACATGGCAACACATTAAGGTATAGGCCCTTAGTCTCTTTTTATTTATTTTTGAGATGGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTTCAGTGGCACAGTCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTATCCTGCCTCAGAGCCTCTCGAGTAGCTGGGATTACAGGCATATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCGCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGTCCCCTTAGTCTTTTAAGAAGGGGCAATGAACATTCTCAACTAAATGTTGGNNNNNN
benign
335,895
Clinical classification of chromosome X, position 71141301, gene MED12 (mediator complex subunit 12): benign or pathogenic? Disease(s) if pathogenic?
benign
GGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAAGCGTGAGCCACCGCGCCCGGCCTAAATTTCTTAATTCTAATTGGATTGCTACCCTCTCTTCCTCTTCTTCAACATGGCAACACATTAAGGTATAGGCCCTTAGTCTCTTTTTATTTATTTTTGAGATGGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTTCAGTGGCACAGTCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTATCCTGCCTCAGAGCCTCTCGAGTAGCTGGGATTACAGGCATATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCGCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGTCCCCTTAGTCTTTTAAGAAGGGGCAATGAACATTCTCAACTAAATGTTGGAGCTTCTTTACAGCTTTCCTCCATGGGGGATATACC
GGAGGTCAGACTTGAGTTGGCCTCTGAAGAATAGCTGTGATTGGGATTTGTGGAGAAGAGGAAAAGAAAGGGCATTCCAGGTAGAGGATGTAACGTGAACAAAGACATGGGGACCAGAATGAGGATGGTGCCTGGGGAGAAGGGCCTGGATGGAGTGTAAAATCTGTGCTGGGGAAGTCACTGGGGCTAGGCTAGGAGGGGGCAGGCTGAGAGATGGCCTTGAATGCTCAGCCGAAGAATTGAGACGCAGTCCCAGAAAGGGCTCTTTTGATCAGAAGAGTGATAGGAGGAGTTGGGTATGTTGCAAGGTTCCTTGGAATGAATGGATAGGATGTGTACTGGAAGGTGCAAGAAGAAGACTTCAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGTACTTTGGGAGGCCCAGGCAGGCAGATCACCTAAGATCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTTGGGGGGCTGAGGCAAGAGAATCACTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCGAGATCGCATCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAGAAGACTTGAGACGGGGAGCCTGGCCAGTAGACTCTTGAAGTGATATACACATGTGGTAGAACAACTTGAAATGTTATTTGGGAACAACAACAGCAACAGCAAAAAACCTCAATGAGTGTTTATAGAATGCCTATCTTGTGCTAAGACTATTTTTTTCTTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCATCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACTTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCACTACCACGCTCAGCTATTTTTTTTTGTATTTTTGCTAGAGATGGGGTTTCACCATGTTGCCAGGCTGGTCTAGAACTCCTGACCTCAAGTGATCCACCCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCAGCCCTATTTTTCATTTTTGTAACAGAAAAATAGCTAATGCAGAATTGAAAAATTCCTAACCATTAAGGTTATGAGACACTAAAATAGAGTATCATCTTATGCAACTTATTCCCCAGACTGGAAGTCTGGTTAGTGACACGAGGAATGAATGAAATAACCTGCTAACGTTTCTTTCAGGTCAGGGACCCAAGGTTTATACTGACCCCCTCTCCTCACCTCCCTCATGCCTTGACCTCTGACCCTCTTATCTTTGGAGGTTTTCACACCAGACACTGCAGCAGACACCCATGATAAGTACCATGACTCCAATGAGTGCCCAGGGCGTCCAGGCAGGCGTCCGTTCAACAGCCATCCTACCTGAGCAGCAGCAGCAGCAGCAACAGCAGCAACAGCAACAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGTACCACATCCGGCAGCAGCAGCAGCAGCAGATCCTGCGGGTAAGGCACTGGGATTTCATCTGGGACCTGGGAGCCCAGGGAGGAAGAGAGGCACAAGTTCTTCCCACACAGTTACCGAGACTAAACAAGGCAGTGTACCAAAACACCTAGCAGAGCGGCTGGCCTCTAGTGGTGCTGGAGAAGTTTTCTACCCTCCCCCTTTTTGTTTTCTGGGGATCATAGTGGGAGAGAGTTGGACATTGTCTGCTGGGTACCCTAGATTTGGTTTCTTTCTGTGCAGCTGTCTAAAAAGGGAAGGCAGTAGACCCCGAGCTCCCACCCTGCTTCCTCATCCCCTGCCCTCAGCCCTTTAGTTCTGAGGCTTAGCTTCCTCCCTCTGCTCCTTCTGAAGTATCTTTTGTGTTCTTATAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAGCAGCAGCAGCAACAGCAACAACAGCAACACCAGCAGCAACACCAGCAGCAACAGCAGCAACAGGCGGCTCCTCCCCAACCCCAGCCCCAGTCCCAGCCCCAGGTAGCTGCTGGACTACAGCCCCAGGCTCAGGGACAGCTGCCCAGGTTGGGCACGCAGCCAGTGAACTGGGTTGGGGACAGTATGGAATAGGGTAGAGGTGGGAGGCAGGGCATGGCACCCTAAAAATGGATTGGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATAATAATAATAAATAAGCCGGGCATGGTGGCAGGTGCCTGTTATCTCAGCTACTCAAGAGGCTGAGGCAGAGAATTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGGGACAGAGCGAGACTCCATCTCAAAAAAAAAAACGGATTGGGAAAGGAGGTTGAAGAAGGAGAAAAGTTCGACTTCAGTCTTCCACTTCCTATTTCCACCCAGTTCCAGCGCCAGGGGCTTCAGCAGACCCAGCAGCAGCAACAGACAGCAGCTTTGGTCCGGCAACTTCAACAACAGCTCTCTAGTAAGCCTGCCTGCCTTCCCAAGGAGAACCCCATGGAATAAATTTAGGGGGCGGGGTGGGCCAAAGTAGCTGAAACGATAGCTTCAGGCCCAGGTTATGAGAGGAGGCATTCCATTCCATCCCCTTCCCTCGATACCTGAACAGCTTTCCTCGTGCATACCCACACCCCTGCCTGGTCTTCCATCCCTGATAATCTCTGGTTTTTCACAGATACCCAGCCACAGCCCAGTACCAACATATTTGGACGCTACTGAGCCACCTGGAGGAACTGCTTGTGCACTGGATGTGGCCCCACCCTTTCCTCTTAATTCCCAATCCCATTCCTGGGCTAGCACCAGTAGTGGTTGGGGCCCTCCCCTCAGGCTCCATTTTTAATAAGTTTTTAGTATTTTTGTTAATGTGAGGCATTGAGCTGTTGGGTTTTGTATATTATTTATATAGAGACCCCAGAGCTGTTGCACCCAATACACAGAGCTTCTTTGCAAAGGGAGTGTGCGAGTTCTGCATGTCTGGGAAGGGTGGTCTCTTGGGAGAATGCAGGGGGTTGGACCAACAAGTCAGAGTCTTCATTCTATTCTGATCATCTCCCCTGTTTACCTTACACTCTAAAATTTCTTTTTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCCAGCGATTCTCCTCCCTCAGCCTCCCGAGCAGCTGGGATTACAGTTATGTGCCATCACGCCCGGCTAATTTTTGTGTTTTTTTTGGTAGAGACAGGGTTCCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGACTACAAGCGTGAGCCACCGCGCCCGGCCTAAATTTCTTAATTCTAATTGGATTGCTACCCTCTCTTCCTCTTCTTCAACATGGCAACACATTAAGGTATAGGCCCTTAGTCTCTTTTTATTTATTTTTGAGATGGAGTTTTGCTCTTGTCGCCCAGGCTAGAGTTCAGTGGCACAGTCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTATCCTGCCTCAGAGCCTCTCGAGTAGCTGGGATTACAGGCATATGCCACCAGGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCGCAGGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGTCCCCTTAGTCTTTTAAGAAGGGGCAATGAACATTCTCAACTAAATGTTGGAGCTTCTTTACAGCTTTCCTCCAT
benign
335,899
Is chromosome X, position 71223805, gene GJB1 (gap junction protein beta 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X']
CTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGG
CTCCTGAAACCACGAGGTTGCAATATGCACTTGGGGTTGGGGGCTGGGCAGCAATGGGGTCTCAGACAGACCCTATAGGTCAACAACAGCATTGGGGACTGCTCAAGGTGGCTCACACCTGTAAACCCAACACTTTGGGAGGCAAAAGTGGGAAGATCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGCCCCCCATCTCTACAAAAAAAAAAAATTGAAAAATTAGCTGGGCATGGTGACACATACCTGTGGTCCCAGCTAATTGAGAGGCTGAGGTGGGAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGC
pathogenic
335,933
Is the chromosome X, position 71224098 variant in GJB1 (gap junction protein beta 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_X-linked_dominant_1', 'Inborn_genetic_diseases']
GAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCA
GAGGATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCANN
pathogenic
335,962
Is chromosome X, position 71224101, gene GJB1 (gap junction protein beta 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X']
GATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCT
GATCGCTGGAGCCCAGGAGGTCAAGGCTGCAGTGAGCAGTGATTGTGCCACTGCACTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTN
pathogenic
335,964
Variant in GJB1 (gap junction protein beta 1), chromosome X, position 71224156—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Inborn_genetic_diseases']
CTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGAC
CTCTAGCCTTAGTGATATAGCCAGACCTTGTCCCCACCCTCTAATAAAAAACAACCCACAGCATTAGGGAGAAAAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACN
pathogenic
335,970
Considering the genetic mutation at chromosome X, position 71224229, impacting GJB1 (gap junction protein beta 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_X-linked_dominant_1']
AAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTT
AAAGGAGAGATCTTGGGTTTGACAGACCATTTATTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCT
pathogenic
335,983
Determine whether the variant at chromosome X, position 71224262, in gene GJB1 (gap junction protein beta 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease']
TTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCATG
TTCCCCCAAAGCAACTTTGTTATCTTTTCCTGAGAAGATTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCAT
pathogenic
335,993
Is the genetic variant on chromosome X, position 71224328, gene GJB1 (gap junction protein beta 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X', 'Charcot-Marie-Tooth_disease_X-linked_dominant_1']
GCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCATGGAAGTTTTCTTTATTTGAGATTTCTCCTTTAGAAAAAAAAAAAAGGAAGACTGGATGTGGTGGCTC
GCTCTGTCGCCCGGACTGGAGTGCAGTGGTGCAATCTTGGCCCACTGCAACCTCTGCCTCCTGGGTTCCAGTGATTCTCCCACCCAGCAGCTGGGATTACAGGCATGCGCCACCACACACGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACATTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCATGGAAGTTTTCTTTATTTGAGATTTCTCCTTTAGAAAAAAAAAAAAGGAAGACTGGATGTGGTGGCTCN
pathogenic
336,001
Variant at chromosome position 71224513, chromosome X, gene GJB1 (gap junction protein beta 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Charcot-Marie-Tooth_Neuropathy_X']
CCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACCGGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCATGGAAGTTTTCTTTATTTGAGATTTCTCCTTTAGAAAAAAAAAAAAGGAAGACTGGATGTGGTGGCTCATGCCTGTAGTCCCAGCACTTTGGAAGGCCAAGGGGAGAGAATCACTTGAGCCCATGAGTTTGAGACCAGTCTGAGCAACATAGAGAGACCCCATCTCTACAAAAAAAATAAAATAAAACAATTAGTCAGGTGTGGTGGCATGTGCCTGTAGTCCCAAGCTATTTCGGATGCTGAGGTGGGAGGA
CCTGACCTCAAGTGATCTGCCCACTTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCAACGGCGCCCAGCCTTTTTTTTTTTTTTTTTTTAATGGTTAGCCTTTGCTTTCTACAGACACTATCTGCAGAAGCACAGGGAGCCTGCTGTAGAAAGACTTCTGTCTCAGATACATTGTTTCATCCTACCTATCCTACCGCTTTGGAACGGTGTGACCTTGAGGAGTTACTTATCTGAGCTTCAGCTTCTTCATCTGGAAAATGGGATAACAGGCTTCCTAAATGGGTCGAAAGAAAAAATGTATGGAACAACGCTCAGCACAGTTTGTGGCTTCATAAATGAGCTCTCTTTCCTGTCCTCTTTCCTCTCCATATTCCGGAGAGGATCTAAGCCTCAGGGAAAATCCTGGTGACCTTAAGCTTCTGACGGGGCCATGGGGGAGGGCCTCAGCCCAGAGCCTCTGGGTCCCCTGGGGTCCCCTCTTCACATCCACCTGCCTGTGTTTTATCTCCCTCCCCCCGCCCCCCCGTGGCCATTCTTCTGGTGGGGCTATGGGGCGGGTGCGGCGATGGACCGGGCGGGCACAGAACAGGTGGGTGCAGGCTGGGTGTCCGGCGCTGGGACACAAGTGCTCTGTGTGTAGGGTGGGCGGAAGTCAGGGCGTTTGATCTGAATTCTAAAGGGCGTTGTTCAGAGCCCCACAAAGGTCTCATTGTGCAGACACTGGGTATAAAGCAGCATATGACTCCCCAGCACCGGGCGGTGATGAATTGGGACGCAGGCGCGGAGCCCAGGGACCACTCCCCCTGCACAGACATGAGACCATAGGGGACCTGTCTGGGTGGCCTCAGGGATAGGCGCTCCCCAAGGTAAGAGGGCTTTGTTGAGTTTGCCCCAGGTCTGGAGTTAAGGAGCTAGGGGACAGGGAGCCATAGGGGATGGCTGATATCGGAACAAGATGGGCTTGGCAAAGAAAGGGGCTGGCGGGAAAAGAATGTTGGATGAAAGCGAAGAAGGGGGATGGGGCTCAGGGAGGTCAAGTCAAGTGAGTGAGGAGGAGGAGAAGCTGGCAAGGGAGATGGGGTGACGAGGAAAGACATGACCATCCTTCCTTTCCTGCTACTGGCTCTTGGAAGAGTTGAGGGGGGGTGCGCAGGCAGTGCTATGGCGCCCGACTTTCCACCCCAGCTTTCTGACAGCTTGCTTCATGGCTGGTGTTTTGCAGGTGTGAATGAGGCAGGATGAACTGGACAGGTTTGTACACCTTGCTCAGTGGCGTGAACCGGCATTCTACTGCCATTGGCCGAGTATGGCTCTCGGTCATCTTCATCTTCAGAATCATGGTGCTGGTGGTGGCTGCAGAGAGTGTGTGGGGTGATGAGAAATCTTCCTTCATCTGCAACACACTCCAGCCTGGCTGCAACAGCGTTTGCTATGACCAATTCTTCCCCATCTCCCATGTGCGGCTGTGGTCCCTGCAGCTCATCCTAGTTTCCACCCCAGCTCTCCTCGTGGCCATGCACGTGGCTCACCAGCAACACATAGAGAAGAAAATGCTACGGCTTGAGGGCCATGGGGACCCCCTACACCTGGAGGAGGTGAAGAGGCACAAGGTCCACATCTCAGGGACACTGTGGTGGACCTATGTCATCAGCGTGGTGTTCCGGCTGTTGTTTGAGGCCGTCTTCATGTATGTCTTTTATCTGCTCTACCCTGGCTATGCCATGGTGCGGCTGGTCAAGTGCGACGTCTACCCCTGCCCCAACACAGTGGACTGCTTCGTGTCCCGCCCCACCGAGAAAACCGTCTTCACCGTCTTCATGCTAGCTGCCTCTGGCATCTGCATCATCCTCAATGTGGCCGAGGTGGTGTACCTCATCATCCGGGCCTGTGCCCGCCGAGCCCAGCGCCGCTCCAATCCACCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACCTGAATACAAGCAGAATGAGATCAACAAGCTGCTGAGTGAGCAGGATGGCTCCCTGAAAGACATACTGCGCCGCAGCCCTGGCACGGGCTGGGCTGGCTGAAAAGAGCGACCGCTGCTCGGCCTGCTGATGCCACATACCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCGAGCCCCTCCTTCTCCCCTGCCGGTGCACAGGCCTCTGCCTGCTGGGGATTACTCGATCAAAACCTTCCTTCCCTGGCTACTTCCCTTCCTCCCGGGGCCTTCCTTTTGAGGAGCTGGAGGGGTGGGGAGCTAGAGGCCACCTATGCCAGTGCTCAAGGTTACTGGGAGTGTGGGCTGCCCTTGTTGCCTGCACCCTTCCCTCTTCCCTCTCCCTCTCTCTGGGACCACTGGGTACAAGAGATGGGATGCTCCGACAGCGTCTCCAATTATGAAACTAATCTTAACCCTGTGCTGTCAGATACCCTGTTTCTGGAGTCACATCAGTGAGGAGGGATGTGGGTAAGAGGAGCAGAGGGCAGGGGTGCTGTGGACATGTGGGTGGAGAAGGGAGGGTGGCCAGCACTAGTAAAGGAGGAATAGTGCTTGCTGGCCACAAGGAAAAGGAGGAGGTGTCTGGGGTGAGGGAGTTAGGGAGAGAGAAGCAGGCAGATAAGTTGGAGCAGGGGTTGGTCAAGGCCACCTCTGCCTCTAGTCCCCAAGGCCTCTCTCTGCCTGAAATGTTACACATTAAACAGGATTTTACAGTAAATGAAGAGGTGGCTTGTGTGTTTGTCAAGTTCTTTCTCCTGCAACCTCTGACCTCCCCCAGGATGAGCTGGCCTTGGTTTTTTACTGATTAAGAAAGGAACAGGGCAAAAGAAGTAGTTACTTGAGTAGCTGAAGCTGCAAATGAGGAAATCACTGTACTTCTGGGCCGCAGAGCCAGCCCCGGAGCCATTCCTCCCTGTTGCTTTTGTTGTTGTGGTTCTTGTCTTTTTCATTGTCTAATAACAGCTTTATTGGGATTTAGTTTACATACCTCCTTCCTCTGATTTTGAAAAGATTAAAAATGACAACTCCCTCTGAAGAGACAAGAAATGATTGGGAAATTTCTCCTGCCCCAGAGAGTGGCACAATTCCCTGGGTACCTCGGTGAGAGCCCCTCCCCCGCACATCTGGAGACCTATCTCCTTACTCCCTCCAAACTCAGCATCCCCTACAAGCTGATGTCCCACAGTCCACCTGTTGGGTTGCACGATGACCCTGACCCCTTTCAGCTGGACAGAGCCCCTAATTTCATCCTCTTTCCCAGTTTCCTTCTCTCAGGAATCAATGCTTCCCACTCCAGAGATGCCTCCACACAGGTCAAACATTTCATAGCAGCAGTTTCCTCACCAGCATCACCCTCCCCTGTCAGCTGTGGTAGGAAATGCCCCAGGCTGAGACTTGGAAAAGCTGCGCTGGAGTCCTGATGCTGTCACTTAGTAGCGGGGCATTCCCTTCCCCGAACCTCAGCTTCCTTATGAGCAAACGAGAACTGGCCCAGCACATCTCTCAGCTCCCTTCAACACTCTGTGCTTCTGGGATTCCTGAAAGATTTCCCCAAGTAACAGTGCATTATCTTCCCCCAGCCTCACAGGGGTTTCCTTAGAGTCACTGCCCCCACAAATAGCCTCTCAGAGTAAAAGTTTCCCCCATGGCAAGTTTGCCTCCTCAGCTTCCTTACCTCCGAACAGGAGAAATTATTTGCCACTCCCTCTCAGAGTATGTGGACTCCATGTAGGAAGTGCTGGATATCAGAAAGGGAGAGAAAATCAGACACAATCTCATGTGAATTGTTCTCCCTTGAGACAGTTTTTCCTCTTTGGAGAGAAAGCATGGAAGTTTTCTTTATTTGAGATTTCTCCTTTAGAAAAAAAAAAAAGGAAGACTGGATGTGGTGGCTCATGCCTGTAGTCCCAGCACTTTGGAAGGCCAAGGGGAGAGAATCACTTGAGCCCATGAGTTTGAGACCAGTCTGAGCAACATAGAGAGACCCCATCTCTACAAAAAAAATAAAATAAAACAATTAGTCAGGTGTGGTGGCATGTGCCTGTAGTCCCAAGCTATTTCGGATGCTGAGGTGGGAGGANN
pathogenic
336,009
Mutation found at chromosome X position 71377717, gene TAF1 (TATA-box binding protein associated factor 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
benign
GTTGTGCAGGTTGGAGTGCAGTAGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGGGGCTGGAACTCCTGACCTCAAGTGATCCGCTCGCCTTGGTCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCTGCCGAACCCGGGAATCTTAAAGAGTTTCTTAAGTAATTTATGATACAACTGATCTGTATACTGGTATTTGGAAACTACTTGTTTAGATGGCTTTATTTTAAATGAAGTGGTTAAATTAGGAAGGTGCCCTGGAATGTTGATAAATCAGATAGTGTCAACTACCAGATATTCAGAGATTTCAAAGGCTAGTAGAGTCTTCAGTGTTTATCTTACCTATTCCTATAACAGTAACTGTCCTAGGCTTGAAAACTGGGGAAGAGCAGTGTTTTTGACCTCCTGTATTTTGAGGCTTGTATTAACCTAAATTCTTCCTGTTGGAGTTTTAAGCCATTTCTTTTAACAGTCTGCTAAATGTCAGCTGTTAACTTTGTTTTATAGATCTTATTTATGCCAAAGAACCTTAATGTTGTCCCGTGGGCTTAAAAAAATTCTCCAGCTCATGAGTCTCTGAACTAGGACTACCTGAGTGGTATAAAGTATTACATAGTTTTGCTATTGGTCACAACATTGGTTACAATATTGGTTACTTATCAGAAAGTAGGGCCAGGTGTGGTGGCTCACACCTGTAATCCGAGCACTTTGGGAGGTGGAGGCAGATGATTTGAGGTCAGGAGTTCAAGACCAGACTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTTAGCCAGCTGTCGTGGCGCATGACTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGAGAGAGGTTTCAGTGAGCTAAGATCTCACCACTGCACTCCAGCCTGTGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAACAACAAAAAATCGGAAAGTAGTAAATGTAGTAATAGTGTTTGTTTTCTCATCACAACCCTAGGGTACCAGGTACGTGGTGAGTTGGGGGACGATGGGAGATAACGAGTTAGAATGAGTTTTCTGGGTTGCATACTAGTATTATGATTTGGGTGCTTGGGCCTATATCTCCTGGCATTGAGCCATGTGTATAGCCTAAAGTGGGTGTTTGCGGAATTCGAGGAAATATGTTCACAGTTACATGCCAAAGGGGTTTCTCTTCCTTGTTGCAGTGTCTGAAAATGGAGAAGGCATCATCTTGCCCTCCATCATTGCCCCTTCCTCTTTGGCCTCAGAGAAAGTGGACTTCAGTAGTTCCTCTGACTCAGAATCTGAGATGGGACCTCAGGAAGCAACACAGGCAGAATCTGAAGATGGAAAGCTGACCCTTCCATTGGCTGGGATTATGCAGCATGATGCCACCAAGCTGTTGCCAAGTGTCACAGAACTTTTTCCAGAATTTCGACCTGGAAAGGTACATTCTGTGGAGAATGCTCAGATTGCAAACCACTGACCTCTTCCAAATAATGAGTTTTGTTGTTAAGATGCTGAGTATGGAATGGGGTTTCCTTACTCAGTGACATATTATTGGCTACATAAGAGCTCTTCACACTGTATTAGGTCTTTTTTTTAAAGTTGTATGTATTGATAGTAAATGTGATTTATGCTGTTCTCATTGGAAATTTCTCTGTTATCTTAAAAGAACTAGCCCAAATTATTAAGGAACGCTTCTTTACTTTCTTAGACGTTACAAGTCTGAATGCGACACTCCTTTGTTTCTCCCCCACATTTGAAGAGATCTCTCAAGGGAGTTTTCAGGCCCAGATGCTGCTGTTTTCCCATCTGACTTTGAGTCTGTGTCATAGTAATGTATTCTGTGTTCTAGGTGTTACGTTTTCTACGTCTTTTTGGACCAGGGAAGAATGTCCCATCTGTTTGGCGGAGTGCTCGGAGAAAGAGGAAGAAGAAGCACCGTGAGCTGATACAGGAAGAGCAGATCCAGGAGGTGGAGTGCTCAGTAGAATCAGAAGTCAGCCAGAAGTCTTTGTGGAACTACGACTACGCTCCACCACCACCTCCAGAGCAGTGTCTCTCTGATGATGAAGTAGGCAAAATAGAGACCTGAGATTAAGGCCTATGAGAGGAACAAATGAATTCAATGAGTTCTCCCTAATTTATGTCTAAATTGTAAATAATACCATAGCAGATAGAATCTGTGCTAATTTTCAATGAGTAATCATGGGTTCAATCTCAGTGGCTGCCCCTTCCCTATTGTAAAAGAAAAATGTTTGGTGGGGTAGGCGGGGATGAGAGGGGTAGATGGTGATATGCTGCTGAATAAGAAGGTTTGATTGATAGGTGGAATGTGCTATGATACATCTCCATTGTTTACATTCTAACTCCAGGTAAATCATCCTCAGTTTCTCTAAGTTCCCCTCCTGACTGTTAACTCTCTATAGCCTTAGGACATCTGGGATCAGGAAATTCTCCCTGCTCTACTTCTTTCTTCTGTTACAGATCACGATGATGGCTCCTGTGGAGTCCAAATTTTCCCAATCAACTGGAGATATAGATAAAGTGACAGATACCAAACCAAGAGTGGCTGAGTGGCGTTATGGGCCTGCCCGACTGTGGTATGATATGCTGGGTGTCCCTGAAGATGGCAGTGGGTTTGACTATGGCTTCAAACTGAGAAAGACAGAACATGAACCTGTGATAAAATCTAGAATGATAGAGGTGAGCAACACTGGTATGTAAGAAAGGAATCAATGTACTCAGGTCCTATTACTTTTACTAACTTTACTCTTTAATTGGGGAGATACTGGGTGGTAGGGTTTCTTTGGTGGGAGATTGAGGTGTCTCAGCCTTTTATTTGGTATGGTGTATCACCCTGGTAGCTAGGTCCTATTCTAAGGATTCTGTTTGTGAAATGAATGCTGTGCCAGACTAGGAGTGGGAAGAGGCAAATATTCCTCCGTTATCAGGTGGTTGTTTCAAGTAAAGGACCACTTACAATGTGTCTGATGTATCTTTAATGTGGAATTTGGAGTGGAAACCTTGACCAGTGACCAATCAAGGATGTGTTTTTTCTTCCCTACTTACACAGGAATTTAGGAAACTTGAGGAAAACAATGGCACTGATCTTCTGGCTGATGAAAACTTCCTGATGGTGACACAGCTGCATTGGGAGGATGATATCATCTGGGATGGGGAGGATGTCAAACACAAAGGGACAAAACCTCAGCGTGCAAGCCTGGCAGGCTGGCTTCCTTCTAGCATGACTAGGAATGCGATGGCTTACAATGTTCAGCAAGGTGTGCTTCTGTGCCAGCTGTGTCTAGCAGATACTGCCCTTAATCTTAGTCACCATAAGTGGGCTCAGCTGTGATTTTTTTTTTTTTTTTTTTTTTTCGGTGAGACAGAGTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGCGGTTCTTCTGCCTCAGCCTCTGGAGTGGCTAGGATTACAGGCGTGCACCACGATGTCTGACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCAGGTCTCGAACTCCCGACCTCAGGTGATCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGGCTGTGATGTTCTGAGCTGCCAAGAGATAGTGAAATTTTTAGGATCTGAGGCCTAATTCTAGTCCCTGTAATTTTTATTTTATTTTTATGCTCAACCTGGAGGAAGATAGTCCATGTAATTTTTTGCCCTGTTAAGAAGCTAGGCCAGACTCAGGTTTCTTAAAAACATGTGATAAAGATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTGCTCTGTTGCCTGGGCCGGAGTGTAGTGGCGCAATCTCAGCTCACTGCAATCTCTCCCTCCTGGGCTCAGGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGATTACAGGCATGCGCCACCATGCCCA
GTTGTGCAGGTTGGAGTGCAGTAGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCATGCCTCAGCCTCCAGAGTAGGGGCTGGAACTCCTGACCTCAAGTGATCCGCTCGCCTTGGTCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCTGCCGAACCCGGGAATCTTAAAGAGTTTCTTAAGTAATTTATGATACAACTGATCTGTATACTGGTATTTGGAAACTACTTGTTTAGATGGCTTTATTTTAAATGAAGTGGTTAAATTAGGAAGGTGCCCTGGAATGTTGATAAATCAGATAGTGTCAACTACCAGATATTCAGAGATTTCAAAGGCTAGTAGAGTCTTCAGTGTTTATCTTACCTATTCCTATAACAGTAACTGTCCTAGGCTTGAAAACTGGGGAAGAGCAGTGTTTTTGACCTCCTGTATTTTGAGGCTTGTATTAACCTAAATTCTTCCTGTTGGAGTTTTAAGCCATTTCTTTTAACAGTCTGCTAAATGTCAGCTGTTAACTTTGTTTTATAGATCTTATTTATGCCAAAGAACCTTAATGTTGTCCCGTGGGCTTAAAAAAATTCTCCAGCTCATGAGTCTCTGAACTAGGACTACCTGAGTGGTATAAAGTATTACATAGTTTTGCTATTGGTCACAACATTGGTTACAATATTGGTTACTTATCAGAAAGTAGGGCCAGGTGTGGTGGCTCACACCTGTAATCCGAGCACTTTGGGAGGTGGAGGCAGATGATTTGAGGTCAGGAGTTCAAGACCAGACTGGCCAAGATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAATTTAGCCAGCTGTCGTGGCGCATGACTGTAATCCCAGCTACTCAGGAGGTTGAGGCAGGAGAATCACTTGAACCCGAGAGAGAGAGGTTTCAGTGAGCTAAGATCTCACCACTGCACTCCAGCCTGTGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAACAACAAAAAATCGGAAAGTAGTAAATGTAGTAATAGTGTTTGTTTTCTCATCACAACCCTAGGGTACCAGGTACGTGGTGAGTTGGGGGACGATGGGAGATAACGAGTTAGAATGAGTTTTCTGGGTTGCATACTAGTATTATGATTTGGGTGCTTGGGCCTATATCTCCTGGCATTGAGCCATGTGTATAGCCTAAAGTGGGTGTTTGCGGAATTCGAGGAAATATGTTCACAGTTACATGCCAAAGGGGTTTCTCTTCCTTGTTGCAGTGTCTGAAAATGGAGAAGGCATCATCTTGCCCTCCATCATTGCCCCTTCCTCTTTGGCCTCAGAGAAAGTGGACTTCAGTAGTTCCTCTGACTCAGAATCTGAGATGGGACCTCAGGAAGCAACACAGGCAGAATCTGAAGATGGAAAGCTGACCCTTCCATTGGCTGGGATTATGCAGCATGATGCCACCAAGCTGTTGCCAAGTGTCACAGAACTTTTTCCAGAATTTCGACCTGGAAAGGTACATTCTGTGGAGAATGCTCAGATTGCAAACCACTGACCTCTTCCAAATAATGAGTTTTGTTGTTAAGATGCTGAGTATGGAATGGGGTTTCCTTACTCAGTGACATATTATTGGCTACATAAGAGCTCTTCACACTGTATTAGGTCTTTTTTTTAAAGTTGTATGTATTGATAGTAAATGTGATTTATGCTGTTCTCATTGGAAATTTCTCTGTTATCTTAAAAGAACTAGCCCAAATTATTAAGGAACGCTTCTTTACTTTCTTAGACGTTACAAGTCTGAATGCGACACTCCTTTGTTTCTCCCCCACATTTGAAGAGATCTCTCAAGGGAGTTTTCAGGCCCAGATGCTGCTGTTTTCCCATCTGACTTTGAGTCTGTGTCATAGTAATGTATTCTGTGTTCTAGGTGTTACGTTTTCTACGTCTTTTTGGACCAGGGAAGAATGTCCCATCTGTTTGGCGGAGTGCTCGGAGAAAGAGGAAGAAGAAGCACCGTGAGCTGATACAGGAAGAGCAGATCCAGGAGGAGGTGGAGTGCTCAGTAGAATCAGAAGTCAGCCAGAAGTCTTTGTGGAACTACGACTACGCTCCACCACCACCTCCAGAGCAGTGTCTCTCTGATGATGAAGTAGGCAAAATAGAGACCTGAGATTAAGGCCTATGAGAGGAACAAATGAATTCAATGAGTTCTCCCTAATTTATGTCTAAATTGTAAATAATACCATAGCAGATAGAATCTGTGCTAATTTTCAATGAGTAATCATGGGTTCAATCTCAGTGGCTGCCCCTTCCCTATTGTAAAAGAAAAATGTTTGGTGGGGTAGGCGGGGATGAGAGGGGTAGATGGTGATATGCTGCTGAATAAGAAGGTTTGATTGATAGGTGGAATGTGCTATGATACATCTCCATTGTTTACATTCTAACTCCAGGTAAATCATCCTCAGTTTCTCTAAGTTCCCCTCCTGACTGTTAACTCTCTATAGCCTTAGGACATCTGGGATCAGGAAATTCTCCCTGCTCTACTTCTTTCTTCTGTTACAGATCACGATGATGGCTCCTGTGGAGTCCAAATTTTCCCAATCAACTGGAGATATAGATAAAGTGACAGATACCAAACCAAGAGTGGCTGAGTGGCGTTATGGGCCTGCCCGACTGTGGTATGATATGCTGGGTGTCCCTGAAGATGGCAGTGGGTTTGACTATGGCTTCAAACTGAGAAAGACAGAACATGAACCTGTGATAAAATCTAGAATGATAGAGGTGAGCAACACTGGTATGTAAGAAAGGAATCAATGTACTCAGGTCCTATTACTTTTACTAACTTTACTCTTTAATTGGGGAGATACTGGGTGGTAGGGTTTCTTTGGTGGGAGATTGAGGTGTCTCAGCCTTTTATTTGGTATGGTGTATCACCCTGGTAGCTAGGTCCTATTCTAAGGATTCTGTTTGTGAAATGAATGCTGTGCCAGACTAGGAGTGGGAAGAGGCAAATATTCCTCCGTTATCAGGTGGTTGTTTCAAGTAAAGGACCACTTACAATGTGTCTGATGTATCTTTAATGTGGAATTTGGAGTGGAAACCTTGACCAGTGACCAATCAAGGATGTGTTTTTTCTTCCCTACTTACACAGGAATTTAGGAAACTTGAGGAAAACAATGGCACTGATCTTCTGGCTGATGAAAACTTCCTGATGGTGACACAGCTGCATTGGGAGGATGATATCATCTGGGATGGGGAGGATGTCAAACACAAAGGGACAAAACCTCAGCGTGCAAGCCTGGCAGGCTGGCTTCCTTCTAGCATGACTAGGAATGCGATGGCTTACAATGTTCAGCAAGGTGTGCTTCTGTGCCAGCTGTGTCTAGCAGATACTGCCCTTAATCTTAGTCACCATAAGTGGGCTCAGCTGTGATTTTTTTTTTTTTTTTTTTTTTTCGGTGAGACAGAGTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGCGGTTCTTCTGCCTCAGCCTCTGGAGTGGCTAGGATTACAGGCGTGCACCACGATGTCTGACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCAGGTCTCGAACTCCCGACCTCAGGTGATCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGGCTGTGATGTTCTGAGCTGCCAAGAGATAGTGAAATTTTTAGGATCTGAGGCCTAATTCTAGTCCCTGTAATTTTTATTTTATTTTTATGCTCAACCTGGAGGAAGATAGTCCATGTAATTTTTTGCCCTGTTAAGAAGCTAGGCCAGACTCAGGTTTCTTAAAAACATGTGATAAAGATCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTTGCTCTGTTGCCTGGGCCGGAGTGTAGTGGCGCAATCTCAGCTCACTGCAATCTCTCCCTCCTGGGCTCAGGCGATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGATTACAGGCATGCGCCACCATGC
benign
336,045
Evaluate the clinical significance of the mutation at chromosome X, position 71556945 in gene OGT (O-linked N-acetylglucosamine (GlcNAc) transferase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
benign
AGCAAAGTAAATCCAGACTTTTAAATTTTTTGTTGTTGTCAAAGGAAAGCCTATTTTTTATGTGGGAGTAGAAAACTTCCCAGTGTAAAGACACATTTTATAAAGGTGTGATTTTGGTTTGAGGTTAAAATATAATACAGCATGAATTATGTAATTAATTACAATTACTTGATATATTTTGATATAGTACAGCTTGAATGAGTTGTAACAAACCATCCATTAAGCATGAGTTACATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTATTTACAGAGCTGTGGCAGCTTATCTTCGTGCCCTAAGTTTGAGTCCAAATCACGCAGTGGTGCACGGCAACCTGGCTTGTGTATACTATGAGCAAGGCCTGATAGATCTGGCAATAGACACCTACAGGCGGGCTATCGAACTACAACCACATTTCCCTGATGCTTACTGCAACCTAGCCAATGCTCTCAAAGAGAAGGGCAGTGTAAGGATTTTTACTCATTCTATTTGTTATCTGGTAGGATTAAGAGTCTTTTCTGGCCAGGTGTGGTGGCTCACACTTGTAATGCCAGCACTTCGGGAGGCCGAGATCAGAGGATTGCTTGAGCTTAGGGTTTCGAGACCAGCCTAGGCAACATGACGAAACCCTGTCTCTACAAGAAATACAAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCCCAGCTCCTTGGGAGGCCGAGGTGGGAGGATCGATTGAGTCCTGGGAGGTTGAGGCTGCAGTGGGCCATGATTGTGCCACAGCACTCCAGCCTGGGCAACAGAGCACGAGACTCTGTCTCAAAAAAATCACAAAAACCAAAAAACAGCAAAAAAGGAAAGTCTTTTGTACAAGTATTGAGATGGTATATTGGTTTACTTTAGAGTTTTGGTTGAGGGTAAGAATACCAAAAAATATCAATTTTCTGTAGCATTACCAGCCATTAGGCTTAATTAAACAATTATTAGAACAGTATCAGTGGAGGCTTTATGATTCTGTACAGTTTTTGAAGACTTTGTTTTGTTTTCTAGGTTGCTGAAGCAGAAGATTGTTATAATACAGCTCTCCGTCTGTGTCCCACCCATGCAGACTCTCTGAATAACCTAGCCAATATCAAACGAGAACAGGGAAACATTGAAGAGGCAGTTCGCTTGTATCGTAAAGCATTAGAAGTATGTGAGGGTGGTGTAGCTGGGCATTTAGCATGATAGTAGAGGGAAAGCAGTTAAGTTTACCATCATCCACCTCTTTTGTAAAAATAGTGGTTGAATCATTTACAAGAGGATTATTCATTGAAGTAACAATTGAGTACCTAAGGTATGATGTGAGGCCCTATGTGACATTCCAGAAAATCCCTGCATTCAGAGTTCATTATTCTGTGGATAAGATCTGTACAAAAAAATTAAACATTAACCCACAGTTCAAGAGAAGTTACTTATAAGTATATAATCTTAGTGCCTGATGGCTGTATGGTAGTGGTTAGTAGATGTGGTAGGAGTTTAGCAGAGAGAGATTTCAGTGGTGTTGGAGTGGTCAGGATAAACTAAGAGGAGAAGAGGTGTACCTCATTATGTTTGAAACAAGAAGAGGTATAAAATAGAGGAAGAGGTAGAATTTGAGAATGAATAGACTTGGAAAAAGTAGAGACAAATTTAGGGGTTTAAATGTACTTGAGCAAAGTTCTTAAGGTTGTGGTGAATTATTACTGCTGCTTTAGCAATTTTTTTAACCTCAGTTCTGATCTTGACTCTTTATAGGTCTTCCCAGAGTTTGCTGCTGCCCATTCAAATTTAGCAAGTGTACTGCAGCAGCAGGGAAAACTGCAGGAAGCTCTGATGCATTATAAGGAGGCTATTCGGTAAGAGACACTAACAGCCTTATTTTTAAAATTATTTTTAATTTTAAAATGTTTGACATTCGGCACATTGCAGATGCTAAAATGGCTTTAAATAACAACGGAATAAGTTAGCATTACAGTGGGTTAAAGATTTTTGTATTGGAGAAATAAAACCTTTGGCTTCTCTTTTAGAATCAGTCCTACCTTTGCTGATGCCTACTCTAATATGGGAAACACTCTAAAGGAGATGCAGGATGTTCAGGGAGCCTTGCAGTGTTATACGCGTGCCATCCAAATTAATCCTGCATTTGCAGATGCACATAGCAATCTGGCTTCCATTCATAAGGTACTACTGTTTATTATAATATGTGCAGTTTAACACCTAAAATTTAACTTTTGGAAATTTTTTACCATCCTGCTTTATTTATTTTCCAGGATTCAGGGAATATTCCAGAAGCCATAGCTTCTTACCGCACGGCTCTGAAACTTAAGCCTGATTTTCCTGATGCTTATTGTAACTTGGCTCATTGCCTGCAGGTAAAGAATAACAGGCCAGTAATTGGCTCTCAGTGTTGTAATAGCTTTTTAATTGTTGTATGCCATAAGAATCCAAGCCTGACTGGAAATAGTATTTTTAATAGGCTATCTGACATTACTTTAGGCCAAAGACATATCAAATATTAAATCCTGGGATAGGACTTTCTGGATAATAACTTGTTTTTGCTTTCTCTAGATTGTCTGTGATTGGACAGACTATGATGAGCGAATGAAGAAGTTGGTCAGTATTGTGGCTGACCAGTTAGAGAAGAATAGGTTGCCTTCTGTGCATCCTCATCATAGTATGCTATATCCTCTTTCTCATGGCTTCAGGAAGGCTATTGCTGAGAGGCACGGCAACCTGTGCTTAGATAAGGTGTGATTCTTTTGTTTTAATCTTTTTGTTGTAAACTAAAACACAAATACAGAAAACTGTAAAAATCAAATCTGTGGCTTAATGAACGATTATAAAGTGAACACCACCCAAGTCGAGAAATAAAACTTTTGTGGGCCACTTCAGAACCCCTTCCATTGTGTCCTGAGTATAACCCCCTGCACTTCATAAGACGGAATCCTTAACTCCTTCACTTAAACACTAATGATAGACTGATGGTACTTTTCTTTAAGTTGAAAGCCATAATTTTTTTTTCTTTTATCTTTTTTTTCTTTTTTTTTTGAGACGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGTGTGATCATGGCTTACTGCAGCCTTGACCTCCCCGAGCTTAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCATGCCACCACACCTAATTTTGTGTTTTTTGTAGAGATGGGGTTTTGCTATGTTGCCCAAGCTGGTCTTGAACCTCTGGGCTCAAGTGATCTGCCCACCTCGCCCGGCCAAAGTGCTGGGATTACGGGTGTGAGCCACCGCGCCTGGCCAGCCATCATGTTTAATGGAGTGCTTGGTATTTTGTATTCACCTTTGAGAATTAGAGCAGTACTTGATCAAGGATTGGATCAAAGGTTGGATAATAGATTGGAGTGCTAGGTGTACTTTTTTTTTTTTTTTGAGACATAGTGTCTCTGTCATCCAGACTGCAGTGCAGTGGTGCCATCTCAGCTCATTGCAACCTCTGTCTCCCAGGTTAAAGTGATGCTCGTGCCTTAGCTTCCCGAGGAGCTAGGATTACAGGCGTGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGGCTTTGCCATGCTAGGCTGGTCTCGAAATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCCCCCAGCCATAATTTTGTTTTTAGAAAATGTTTCCCTATAGAATTTTCTAAAATGCGGGAGGAAACCATGCTCTGTCCATACTGCTTCATACCTACAAGTGTTAGATTTGCTCGTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTTGGCTTACTGCAACCTCCACCTCCCAGGTTTGGGCGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTACAAGCATGTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGAGATTGGATTTCACTGTGTTGGCCA
AGCAAAGTAAATCCAGACTTTTAAATTTTTTGTTGTTGTCAAAGGAAAGCCTATTTTTTATGTGGGAGTAGAAAACTTCCCAGTGTAAAGACACATTTTATAAAGGTGTGATTTTGGTTTGAGGTTAAAATATAATACAGCATGAATTATGTAATTAATTACAATTACTTGATATATTTTGATATAGTACAGCTTGAATGAGTTGTAACAAACCATCCATTAAGCATGAGTTACATTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTATTTACAGAGCTGTGGCAGCTTATCTTCGTGCCCTAAGTTTGAGTCCAAATCACGCAGTGGTGCACGGCAACCTGGCTTGTGTATACTATGAGCAAGGCCTGATAGATCTGGCAATAGACACCTACAGGCGGGCTATCGAACTACAACCACATTTCCCTGATGCTTACTGCAACCTAGCCAATGCTCTCAAAGAGAAGGGCAGTGTAAGGATTTTTACTCATTCTATTTGTTATCTGGTAGGATTAAGAGTCTTTTCTGGCCAGGTGTGGTGGCTCACACTTGTAATGCCAGCACTTCGGGAGGCCGAGATCAGAGGATTGCTTGAGCTTAGGGTTTCGAGACCAGCCTAGGCAACATGACGAAACCCTGTCTCTACAAGAAATACAAAAATTAGCCGGGCATGGTGGCACACACCTGTAGTCCCAGCTCCTTGGGAGGCCGAGGTGGGAGGATCGATTGAGTCCTGGGAGGTTGAGGCTGCAGTGGGCCATGATTGTGCCACAGCACTCCAGCCTGGGCAACAGAGCACGAGACTCTGTCTCAAAAAAATCACAAAAACCAAAAAACAGCAAAAAAGGAAAGTCTTTTGTACAAGTATTGAGATGGTATATTGGTTTACTTTAGAGTTTTGGTTGAGGGTAAGAATACCAAAAAATATCAATTTTCTGTAGCATTACCAGCCATTAGGCTTAATTAAACAATTATTAGAACAGTATCAGTGGAGGCTTTATGATTCTGTACAGTTTTTGAAGACTTTGTTTTGTTTTCTAGGTTGCTGAAGCAGAAGATTGTTATAATACAGCTCTCCGTCTGTGTCCCACCCATGCAGACTCTCTGAATAACCTAGCCAATATCAAACGAGAACAGGGAAACATTGAAGAGGCAGTTCGCTTGTATCGTAAAGCATTAGAAGTATGTGAGGGTGGTGTAGCTGGGCATTTAGCATGATAGTAGAGGGAAAGCAGTTAAGTTTACCATCATCCACCTCTTTTGTAAAAATAGTGGTTGAATCATTTACAAGAGGATTATTCATTGAAGTAACAATTGAGTACCTAAGGTATGATGTGAGGCCCTATGTGACATTCCAGAAAATCCCTGCATTCAGAGTTCATTATTCTGTGGATAAGATCTGTACAAAAAAATTAAACATTAACCCACAGTTCAAGAGAAGTTACTTATAAGTATATAATCTTAGTGCCTGATGGCTGTATGGTAGTGGTTAGTAGATGTGGTAGGAGTTTAGCAGAGAGAGATTTCAGTGGTGTTGGAGTGGTCAGGATAAACTAAGAGGAGAAGAGGTGTACCTCATTATGTTTGAAACAAGAAGAGGTATAAAATAGAGGAAGAGGTAGAATTTGAGAATGAATAGACTTGGAAAAAGTAGAGACAAATTTAGGGGTTTAAATGTACTTGAGCAAAGTTCTTAAGGTTGTGGTGAATTATTACTGCTGCTTTAGCAATTTTTTTAACCTCAGTTCTGATCTTGACTCTTTATAGGTCTTCCCAGAGTTTGCTGCTGCCCATTCAAATTTAGCAAGTGTACTGCAGCAGCAGGGAAAACTGCAGGAAGCTCTGATGCATTATAAGGAGGCTATTCGGTAAGAGACACTAACAGCCTTATTTTTAAAATTATTTTTAATTTTAAAATGTTTGACATTCGGCACATTGCAGATGCTAAAATGGCTTTAAATAACAACGGAATAAGTTAGCATTACAGTGGGTTAAAGATTTTTGTATTGGAGAAATAAAACCTTTGGCTTCTCTTTAGAATCAGTCCTACCTTTGCTGATGCCTACTCTAATATGGGAAACACTCTAAAGGAGATGCAGGATGTTCAGGGAGCCTTGCAGTGTTATACGCGTGCCATCCAAATTAATCCTGCATTTGCAGATGCACATAGCAATCTGGCTTCCATTCATAAGGTACTACTGTTTATTATAATATGTGCAGTTTAACACCTAAAATTTAACTTTTGGAAATTTTTTACCATCCTGCTTTATTTATTTTCCAGGATTCAGGGAATATTCCAGAAGCCATAGCTTCTTACCGCACGGCTCTGAAACTTAAGCCTGATTTTCCTGATGCTTATTGTAACTTGGCTCATTGCCTGCAGGTAAAGAATAACAGGCCAGTAATTGGCTCTCAGTGTTGTAATAGCTTTTTAATTGTTGTATGCCATAAGAATCCAAGCCTGACTGGAAATAGTATTTTTAATAGGCTATCTGACATTACTTTAGGCCAAAGACATATCAAATATTAAATCCTGGGATAGGACTTTCTGGATAATAACTTGTTTTTGCTTTCTCTAGATTGTCTGTGATTGGACAGACTATGATGAGCGAATGAAGAAGTTGGTCAGTATTGTGGCTGACCAGTTAGAGAAGAATAGGTTGCCTTCTGTGCATCCTCATCATAGTATGCTATATCCTCTTTCTCATGGCTTCAGGAAGGCTATTGCTGAGAGGCACGGCAACCTGTGCTTAGATAAGGTGTGATTCTTTTGTTTTAATCTTTTTGTTGTAAACTAAAACACAAATACAGAAAACTGTAAAAATCAAATCTGTGGCTTAATGAACGATTATAAAGTGAACACCACCCAAGTCGAGAAATAAAACTTTTGTGGGCCACTTCAGAACCCCTTCCATTGTGTCCTGAGTATAACCCCCTGCACTTCATAAGACGGAATCCTTAACTCCTTCACTTAAACACTAATGATAGACTGATGGTACTTTTCTTTAAGTTGAAAGCCATAATTTTTTTTTCTTTTATCTTTTTTTTCTTTTTTTTTTGAGACGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGCGGTGTGATCATGGCTTACTGCAGCCTTGACCTCCCCGAGCTTAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCATGCCACCACACCTAATTTTGTGTTTTTTGTAGAGATGGGGTTTTGCTATGTTGCCCAAGCTGGTCTTGAACCTCTGGGCTCAAGTGATCTGCCCACCTCGCCCGGCCAAAGTGCTGGGATTACGGGTGTGAGCCACCGCGCCTGGCCAGCCATCATGTTTAATGGAGTGCTTGGTATTTTGTATTCACCTTTGAGAATTAGAGCAGTACTTGATCAAGGATTGGATCAAAGGTTGGATAATAGATTGGAGTGCTAGGTGTACTTTTTTTTTTTTTTTGAGACATAGTGTCTCTGTCATCCAGACTGCAGTGCAGTGGTGCCATCTCAGCTCATTGCAACCTCTGTCTCCCAGGTTAAAGTGATGCTCGTGCCTTAGCTTCCCGAGGAGCTAGGATTACAGGCGTGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGGCTTTGCCATGCTAGGCTGGTCTCGAAATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCCCCCAGCCATAATTTTGTTTTTAGAAAATGTTTCCCTATAGAATTTTCTAAAATGCGGGAGGAAACCATGCTCTGTCCATACTGCTTCATACCTACAAGTGTTAGATTTGCTCGTACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTTGGCTTACTGCAACCTCCACCTCCCAGGTTTGGGCGATTCTCCCACCTCAGCCTCCCAGGTAGCTGGGACTACAAGCATGTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTTTAGTAGAGATTGGATTTCACTGTGTTGGCCAN
benign
336,093
The chromosome X, position 71563316 genetic variant in gene OGT (O-linked N-acetylglucosamine (GlcNAc) transferase): benign or pathogenic? If pathogenic, indicate disease(s).
benign
TCTTCATTCATACTGTTCTCTACTGAGATTGTATTCTGTTAAACTCCTTCAAACTCCTATTCGTCTTTGAAGACCTATTTTCAAATACCAATTCTAGGCTGGGTGCTGTGGCTCACGTGTATAATCCTTTGGGAGGCTGAGGTGGAAGGATTGCTTGAGACCATCATGGGCAACATAGTGAGACCCCATCCCTACCAAAAAAAAAAAAAAGATTACAAATTTCAAATACCAATTTCTCTGTGATATGTTGTTATTCATACATTCAATCCAGAAGTGAACTCTCCTTCCTTTGTGTTCTGTTTCTTTAATGCTTTGGGCCCATTTTAATGACAGTCAACCATATTTGTGCCCGAATTAATGTAGTTAATTTGTGTTCTTACCTCTTTTCCATCTGGGAATCTGAATTATGTTAAATGCCATTAAAACTAAATGCCATTAAAACTAAATGTCATTAAAACTAATTGATCTGAGATTATACATAGTGAGTTCTTATTTTGTATTCTGTAGATTCCATGCAATGGAAAAGCAGCTGATCGCATCCATCAGGATGGAATTCATATCCTTGTAAATATGAATGGCTATACTAAGGGCGCTCGAAATGAGCTTTTTGCTCTCAGGCCAGCTCCTATTCAGGTAAACAAATTAACAGTCATCACTTATAACATGTATTTGGCTAAGAATACAGTGAGGTGCTGCTTTTCCTCCCTCTGGTTAACTGATATTTGAAACTGTAGGGCAGACATACTTTTAATTTTTTTAAGTTGTTGAAATGCACAGGACAAAAAGAGTGTAGAGCACAGTGCTTATAGGTACATGTATATAGAGACATGCAATTCATGGTTGGCTATGAACAGTTACTCTGTCTTGCAAATTTGAAGAACATTTTAGCATTTTGAAAGTTAGTCTGAAATACAGGCCGGGTATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCTTAGGCAGGAGGATCTCTTGAAACCAGGAGTTTGAGTCCTGCCTGGGCAACAAAGCAAAACACCCTATCTCTACAAAAAATTAAAAAATTAGCCAGAGTGGTGGTGTGCCTCTGTGATCCCAGCTATTTGGGAGGCTAAGGTGGAAGGATTGCTTAAGCTTAGGAGTTTGAGGCTGCAGTGAACTATCACTATGCCACTGCACTCCAGCCCAGGTGACAGAGTAAGAGTCTCTCTTATAGAACTGCTTCATTGCTTTCGGCTAAAGAAGTCAGCCTTGCTGTGCGTGTGGCAAGTGCCTGTAATCCTGGCTACTCTGGAGGCTGAGGCAGAAGGATTGCTTGAGCCCAGGAGTTTGAGGCTGTAGTGATCTACGATTGCACCACTGTATTCCAGCCTAGGGAACAGAGTGAGATCCTGTCTCTAAAAAAGAGTTAGACCTCCTTGTTTATTTACTTATTTAATTTTGGCACCTTTAGGTTCTTTTTTTAAAAACCACTTTATTGAGGTACAGTTGACATACAAAAAGTTGTACATATTTAATGTATGTGACTTGATGAATTTAGAGGTAAGTGTACTGATAAAAGTTCTTAATCAGTTTTTGATCTGATTTTTTTAAGGCAATGTGGCTGGGATACCCTGGGACGAGTGGTGCGCTTTTCATGGATTATATTATCACTGATCAGGAAACTTCGCCAGCTGAAGTTGCTGAGCAGTATTCCGAGAAATTGGCTTATATGCCCCACACTTTTTTTATTGGTGATCATGCTAATATGTTCCCTCACCTGAAGGTAGGTATGAAACAGTGCTATGGACGAATTTCAAAGAACTGTAGCTTTTTATTTCCTTGCTATTGTCTATGTAAATCCTAAAAGACATGTCTGAAACTATTTTTTCCATTAGAAAAAAGCAGTCATCGATTTTAAGTCCAATGGGCACATTTATGACAATCGGATAGTTCTGAATGGCATCGACCTCAAAGCATTTCTTGATAGTCTACCAGATGTGAAAATTGTCAAGGTCAGAACCTAGTCAGTATTGTCATTGAAATAAAGTTAACTGCATTCACGATCTTTTCCCTAATGATGCATTTTTTTTTCAGATGAAGTGTCCTGATGGAGGAGACAATGCAGATAGCAGTAACACAGCTCTTAATATGCCTGTTATTCCTATGAATACTATTGCAGAAGCAGTTATTGAAATGATTAACCGAGGACAGATTCAAATAACAATTAATGGATTCAGTATTAGCAATGGACTGGCAACTACTCAGGTGAGAAGATAATAATACACCATTATATGTCCCGCCAAGTATGCATTTATTTCCCTTAACCTCATGATAACTCTAGGAGGCAAGTATCATTATCACCATTTTTATGGATGAGGAAATGAGTTTAGTGGAAACGTGCATCTTATATAGGTGTGTCTGATTTTAAAAGTCTCCTGGATTCAGCCAGCAGATTATTACTTACTGAGAAACTGCTGTGTTAATATCTTGTTATTCCCTGCCTGTGGCTTTACTCTCTTACATGATGAACTATGTGTAGATTCCATACAGTTTCTTGCTTCTGTAAACCCATCCTTTCCCTAGCTAAATCCTACTCAAACGTTCAGTTCAGACAGCTCTTCCAGGAATCCATTTCCGTACTTACCGCTAACGTCTCCATCCCTACTTCATTGGTACCTGTCTTTTATACCTCTGTAATGTTTGGAATATATCATTACATACAGCACAACAGATGATAATTCCCTGTGTTTGTATCCTCTACTGAATTGAATTACTGAGCCCATGTCTTAATCACAGTAATGTAGTATGTACTCAATAAATAATATATTGCATGCTTAAATAAGTAGCTCTATCAAGAGAGTGTAAGGCAAAGATCTCTGACCTCTAGAGGTCATAGATGTCCTTGCACACCTGGAATAGTTATATAACAATGTAAGGCAGTACTCAAATGTGTGAGAATTACAAGATGAAACTAATTATGTATGTAGAAGCTCAGAAACGGTGAGGATCAATGTGAAGAGAGACACTCTTGGGAGAAGAGACCATTTGGAGGAGTAATTTAGCCTTGAAGAGTAGATGTGATTTAGAAAAGGACATTTCATTCATGAAGAAAAGAGTGATCAAAAGCTGTTGGAACGTTAATAGGATTTTGAGACCTTTTTTGGTTAGAGCAAGAAGTTTCATAGTGCAGTCTCCCCCAACTTAAGATAATGCTGCAACGGTTTGCCTTTTCTTAAACTTCATATATCATGAATATTTTCTCATGGTTCAGTGACTTTTAATGGTTATACCATTTTGGATCTTATGGATTGAAATATTGGACTCCTTTTGCCTTTAAATATAACCATCATTTTTTTCTTGTTCTAGATCAACAATAAGGCTGCAACTGGAGAGGAGGTTCCCCGTACCATTATTGTAACCACCCGTTCTCAGTACGGGTTACCAGAAGATGCCATCGTATACTGTAACTTTAATCAGTTGTATAAAATTGACCCTTCTACTTTGCAGATGTGGGCAAACGTGAGTATGCAAGTATGTTAGAGACTAATAAAGATTTTGTATCTAGAGCTTCTTGCTGAAGATGGTCCTTCCACTCCCATTTAGGAGCTGTTCTGCTCATTTCTTTTTAAAATTTTTTTTTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGATGCGGGTGGATCACCTGAGGTCAGGAGCTTGAGACCAGCCTGACCAACATTGCAAAACCCCGTCTCTATTAAAAATACCAAAAAATTAGCCGGACATGGTGGTAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGACTGGGCAACAAGAGCAAACCTCCATCTCAAAAAAATTTTTTTTAAAAATACTTTTTAAAAAATTTATTTTATTTATTTACATGTGACTCAACTGGGTTATGCCCTTTTTTTAAAAAACAGAATCTCACTCTGTTGTTCGGGCTGCAGTGTAGTGGTGTGATCTTGGCTCATGGCAACCTTTGCATCCCAGGTTCGAGTTATTCTTGTGCCTCAGCCTTCCAAGTAGCTGGGA
TCTTCATTCATACTGTTCTCTACTGAGATTGTATTCTGTTAAACTCCTTCAAACTCCTATTCGTCTTTGAAGACCTATTTTCAAATACCAATTCTAGGCTGGGTGCTGTGGCTCACGTGTATAATCCTTTGGGAGGCTGAGGTGGAAGGATTGCTTGAGACCATCATGGGCAACATAGTGAGACCCCATCCCTACCAAAAAAAAAAAAAAGATTACAAATTTCAAATACCAATTTCTCTGTGATATGTTGTTATTCATACATTCAATCCAGAAGTGAACTCTCCTTCCTTTGTGTTCTGTTTCTTTAATGCTTTGGGCCCATTTTAATGACAGTCAACCATATTTGTGCCCGAATTAATGTAGTTAATTTGTGTTCTTACCTCTTTTCCATCTGGGAATCTGAATTATGTTAAATGCCATTAAAACTAAATGCCATTAAAACTAAATGTCATTAAAACTAATTGATCTGAGATTATACATAGTGAGTTCTTATTTTGTATTCTGTAGATTCCATGCAATGGAAAAGCAGCTGATCGCATCCATCAGGATGGAATTCATATCCTTGTAAATATGAATGGCTATACTAAGGGCGCTCGAAATGAGCTTTTTGCTCTCAGGCCAGCTCCTATTCAGGTAAACAAATTAACAGTCATCACTTATAACATGTATTTGGCTAAGAATACAGTGAGGTGCTGCTTTTCCTCCCTCTGGTTAACTGATATTTGAAACTGTAGGGCAGACATACTTTTAATTTTTTTAAGTTGTTGAAATGCACAGGACAAAAAGAGTGTAGAGCACAGTGCTTATAGGTACATGTATATAGAGACATGCAATTCATGGTTGGCTATGAACAGTTACTCTGTCTTGCAAATTTGAAGAACATTTTAGCATTTTGAAAGTTAGTCTGAAATACAGGCCGGGTATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATGCTTAGGCAGGAGGATCTCTTGAAACCAGGAGTTTGAGTCCTGCCTGGGCAACAAAGCAAAACACCCTATCTCTACAAAAAATTAAAAAATTAGCCAGAGTGGTGGTGTGCCTCTGTGATCCCAGCTATTTGGGAGGCTAAGGTGGAAGGATTGCTTAAGCTTAGGAGTTTGAGGCTGCAGTGAACTATCACTATGCCACTGCACTCCAGCCCAGGTGACAGAGTAAGAGTCTCTCTTATAGAACTGCTTCATTGCTTTCGGCTAAAGAAGTCAGCCTTGCTGTGCGTGTGGCAAGTGCCTGTAATCCTGGCTACTCTGGAGGCTGAGGCAGAAGGATTGCTTGAGCCCAGGAGTTTGAGGCTGTAGTGATCTACGATTGCACCACTGTATTCCAGCCTAGGGAACAGAGTGAGATCCTGTCTCTAAAAAAGAGTTAGACCTCCTTGTTTATTTACTTATTTAATTTTGGCACCTTTAGGTTCTTTTTTTAAAAACCACTTTATTGAGGTACAGTTGACATACAAAAAGTTGTACATATTTAATGTATGTGACTTGATGAATTTAGAGGTAAGTGTACTGATAAAAGTTCTTAATCAGTTTTTGATCTGATTTTTTTAAGGCAATGTGGCTGGGATACCCTGGGACGAGTGGTGCGCTTTTCATGGATTATATTATCACTGATCAGGAAACTTCGCCAGCTGAAGTTGCTGAGCAGTATTCCGAGAAATTGGCTTATATGCCCCACACTTTTTTTATTGGTGATCATGCTAATATGTTCCCTCACCTGAAGGTAGGTATGAAACAGTGCTATGGACGAATTTCAAAGAACTGTAGCTTTTTATTTCCTTGCTATTGTCTATGTAAATCCTAAAAGACATGTCTGAAACTATTTTTTCCATTAGAAAAAAGCAGTCATCGATTTTAAGTCCAATGGGCACATTTATGACAATCGGATAGTTCTGAATGGCATCGACCTCAAAGCATTTCTTGATAGTCTACCAGATGTGAAAATTGTCAAGGTCAGAACCTAGTCAGTATTGTCATTGAAATAAAGTTAACTGCATTCACGATCTTTTCCCTAATGATGCATTTTTTTTCAGATGAAGTGTCCTGATGGAGGAGACAATGCAGATAGCAGTAACACAGCTCTTAATATGCCTGTTATTCCTATGAATACTATTGCAGAAGCAGTTATTGAAATGATTAACCGAGGACAGATTCAAATAACAATTAATGGATTCAGTATTAGCAATGGACTGGCAACTACTCAGGTGAGAAGATAATAATACACCATTATATGTCCCGCCAAGTATGCATTTATTTCCCTTAACCTCATGATAACTCTAGGAGGCAAGTATCATTATCACCATTTTTATGGATGAGGAAATGAGTTTAGTGGAAACGTGCATCTTATATAGGTGTGTCTGATTTTAAAAGTCTCCTGGATTCAGCCAGCAGATTATTACTTACTGAGAAACTGCTGTGTTAATATCTTGTTATTCCCTGCCTGTGGCTTTACTCTCTTACATGATGAACTATGTGTAGATTCCATACAGTTTCTTGCTTCTGTAAACCCATCCTTTCCCTAGCTAAATCCTACTCAAACGTTCAGTTCAGACAGCTCTTCCAGGAATCCATTTCCGTACTTACCGCTAACGTCTCCATCCCTACTTCATTGGTACCTGTCTTTTATACCTCTGTAATGTTTGGAATATATCATTACATACAGCACAACAGATGATAATTCCCTGTGTTTGTATCCTCTACTGAATTGAATTACTGAGCCCATGTCTTAATCACAGTAATGTAGTATGTACTCAATAAATAATATATTGCATGCTTAAATAAGTAGCTCTATCAAGAGAGTGTAAGGCAAAGATCTCTGACCTCTAGAGGTCATAGATGTCCTTGCACACCTGGAATAGTTATATAACAATGTAAGGCAGTACTCAAATGTGTGAGAATTACAAGATGAAACTAATTATGTATGTAGAAGCTCAGAAACGGTGAGGATCAATGTGAAGAGAGACACTCTTGGGAGAAGAGACCATTTGGAGGAGTAATTTAGCCTTGAAGAGTAGATGTGATTTAGAAAAGGACATTTCATTCATGAAGAAAAGAGTGATCAAAAGCTGTTGGAACGTTAATAGGATTTTGAGACCTTTTTTGGTTAGAGCAAGAAGTTTCATAGTGCAGTCTCCCCCAACTTAAGATAATGCTGCAACGGTTTGCCTTTTCTTAAACTTCATATATCATGAATATTTTCTCATGGTTCAGTGACTTTTAATGGTTATACCATTTTGGATCTTATGGATTGAAATATTGGACTCCTTTTGCCTTTAAATATAACCATCATTTTTTTCTTGTTCTAGATCAACAATAAGGCTGCAACTGGAGAGGAGGTTCCCCGTACCATTATTGTAACCACCCGTTCTCAGTACGGGTTACCAGAAGATGCCATCGTATACTGTAACTTTAATCAGTTGTATAAAATTGACCCTTCTACTTTGCAGATGTGGGCAAACGTGAGTATGCAAGTATGTTAGAGACTAATAAAGATTTTGTATCTAGAGCTTCTTGCTGAAGATGGTCCTTCCACTCCCATTTAGGAGCTGTTCTGCTCATTTCTTTTTAAAATTTTTTTTTGGCTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGATGCGGGTGGATCACCTGAGGTCAGGAGCTTGAGACCAGCCTGACCAACATTGCAAAACCCCGTCTCTATTAAAAATACCAAAAAATTAGCCGGACATGGTGGTAGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGACTGGGCAACAAGAGCAAACCTCCATCTCAAAAAAATTTTTTTTAAAAATACTTTTTAAAAAATTTATTTTATTTATTTACATGTGACTCAACTGGGTTATGCCCTTTTTTTAAAAAACAGAATCTCACTCTGTTGTTCGGGCTGCAGTGTAGTGGTGTGATCTTGGCTCATGGCAACCTTTGCATCCCAGGTTCGAGTTATTCTTGTGCCTCAGCCTTCCAAGTAGCTGGGAN
benign
336,096
Does the variant impacting HDAC8 (histone deacetylase 8) on chromosome X, position 72572083, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Cornelia_de_Lange_syndrome_5']
TTACGATGAATGAATACGACTATACAGGCTACTACTATCACCAAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAATCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATT
TTACGATGAATGAATACGACTATACAGGCTACTACTATCACCAAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATTNNNN
pathogenic
336,138
Variant in HDAC8 (histone deacetylase 8), chromosome X, position 72572125—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
benign
AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAATCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATTAGGTCAGCCTGACACTGAAGCCTTTGAACATTCCCTTTATTA
AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAATCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATTAGGTCAGCCTGACACTGAAGCCTTTGAACATTCCCTTTATT
benign
336,139
Does the variant on chromosome X at location 72572125 affecting gene HDAC8 (histone deacetylase 8) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
benign
AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAATCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATTAGGTCAGCCTGACACTGAAGCCTTTGAACATTCCCTTTATTA
AAGGTAGCTGGAAGAAATCCTGTGGTTTGGCCTCAAAAGTGAAATACATAGCCAAGACCCAAGAATTCTTGCTTCTTCTTAAAGAAGACAAATCTATACCACCAGAGGTGAAAAATCTACCCATTAAAATAAAAATTTTGTAATATCTCGGACCGTATTTCCCAGTCCTAAAAGCTCCCTCTTCTAGTACCCTTCCATTTATTTTGGTAAATGTTAAAAAACACTTACTGAAAACCTCCCTATTTAACAGTAAGCAAACTGGACAGTTTTGCTTTGCTTTGATATCTTGTTTGTCATAAAATAATTTTTTGAAATGTTAAATAACTTTAATGGAAGGCATATAGTTACTATGTTAACCAAACCATATGGGTTAAAAAATGGCTTAAAATGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCCGAGATCGCGCCACTGCACTCCAGCCTGCGCGACAAAGCAAGACTCCATCAAAAAAAAAAAAAAAAGGCTTAAAAATTCCCTTTAAAAGGTACAAAATGATTTTGTTAATAATAAGGATAAAATCTGAAAGCCTATTATTACACTACCTTCTGGGAGATAAATGAAGCATAGCACACTAGTTGGTATGAGCACTCACCTATTTGGCCAGAAATTGTCATAAGTAATCCTATATGTGGCAGGGTTATATTTGCTCTTATAACGACATCAAATACAGAAATGGCAATAAACAGCAAGTTCATGTTTTTGGAAGAAACAGTTAGCTCTCTCTTGAGTTCTGGCGCAGTCTTGGCAGTTTTCTTTGGTCTTTTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCTCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGAGCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTACTAGGATTACAGGCGTGAGCCACCACGCCCGGCCTTCTTTGGTCTTGATCTGTCTCCAGCCTCACCCATTAAAGTTTGGTGCTGGTGGTGGGTTGTCTAAAAGTCTTAGGTTGAACTCACACCCTCAAATCTGGCTTAGAATGAAACGAAATCAAAAGAAAAATGGAACACCTCCTAGCTGAACACCTTTTTGTATGAGACAGGTTTTAATACCCAAATGTACTCAAAATCTCCACAATGCACTGCACCTACCCCTGGGATACTTAACCAAGCAATCGAGCTGTATTTCTAATGAACCTTAACTGCTTCCTGCACTTTCCACTCCCCTGTCCCAAGTTTTCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGCAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTACCACGTCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTCAAATTACTGACCTCAGGCGATCCACCCACCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATGCTCTCGGCCCCCCAAGTTTTCTTAATTCTTCAAGAGCTTTCTTGGGATTACAGGCAGATTACAAACACTGTGAATACTTTCACAGAAAGCTAAAATAATTTTTTCAAAAGACCATTCTTTTCCTTGCCCCACTGTGAAGCAGGATATTAAGGCTACGAACACCTAGCTTCAGGGCTATGTTCAAGAAAGACAACTTACCTCATCTGCTTATGCAGTGCATATGCTTCAATCAAAGAATGCACCATACTGGCCTAAAAACATCAGCGTAAAAAAAAAAAAGAAAAGCAGAAATAGTCTCTTTAAAGTTTAATTCAGCAAAATCCCCGTCAATCTCACCATCCTGAACAAAGGAACGGATTAATTTTGTTTCAACTGGCTTCCCTTCTGTTAACAGTTACAATACACTTTAGACAATACAGATACAAAGTATCAAAATCACTAAGGTGAAAGCTACCGGGCCTTAGGCAGGTGATGGAACACCTTCCCCCTGCAGCTTGTTTTCCCACGACTTCAGCGGTCCCCTATGAGTGGAAACTGCGTCCTCTCCCCTCCTCCGTACCCCCTCCCCCACTCCTACCTGTCCATTGGACGTCCCGAAGAGACATGCTGCGCTCTCAGAAACGATATGAGAACACTTCCTTCTGATACAGCTTTAGGTATCTGATACAGCTACTCGAAATTTCTGAAGATTTCCCCCAGCCCAGTGTCCTCTCCGCTTCCTAACGCTCTTTCGTCCACCGCCCCCACCCCCACCCCCAAAGCCCATGGTCTTTCATCCCGACTTCCCTTACCCGTTTGGGGATCTTGGCCAGGGAGTCACACATACTGACATACTCGGGACTATAGATATAAACCGGGACCAGCGACTGCCCACTGTCCGCCGGTTCCTCCGGCTCCTCCATCTTCCGCTTAAAACCGTTCCGCAGCCACCTTCCAGATCTGGCTTTTTTCGGACTCGGCCAGGGTTCCAGTTCCTGCTCCTCTGATCGGCCGCAGCGGTGCTCCCTGGTCAACATTCCCTCCTATTCTTGAGATCGCCGGAGACACTATCACCGCTCCCCATCCTATTGAAGGAATGGATGGGACTTCCCAGACCAGACTCCCCTCATTTAGTGACCACAGTTCAAGGAAAAGGGTTTGGCAGATGTAAAAGTCCAAATAGCTGTCAATTAGGATCGATTGTTTTTATGGCACAAATAAGTAGGGTCAAAACTAACCATCCTTGTTGCCCTACGGGGCCATTTGAGATGAAGTCAGACCAGTTTCACAGCATGCTGGGAGATGTAGTTTCCGGAGGTTTGAGCAACGGAAGAGCCGGGGCTAAACACTAAAATAACCGCGATTTTTAGTTTCAGCGCTAAGACCAAAAAAAAAAAAAAAAAAAAGTAGCCTCAACTCTTTATGAATTGTTTCAATCTGCAAACACATCCATTTCATCCATTTAACCATATAAACACAGATAGAACGTGGCCACCTAGAGCCCCCACCATCCAGCTACATCAGCTGCCTATCCTAAGGATAGGCTTTTTTTTTTTTTTTTTTTTTTTGGTGGGGGCGCTATTTAATGGCACAAATGGTTTGAAAAGTTTACACAGTAAATTCTGTGATGCAATTTTATAGTTCATTTCTTTTCATCATTAACTATCCATGTCCACATGAGAGTTAACAATCTCAATAATTTACTCTGGCAAATCTGATAGTACTTTCCCAAGAGACTGGCTGGTGCAGTGGAAATTGCTTGGTAGATTCCGATCAAGCAATGATGTCAAATGTAACTCCTTGAACATTCATGTGGTAGGAAGGTTGCAAGCAGTGGTGTTTGGAAACTGCAGCTCTTCTCCTCCTACCTCCTCTTGTTTCTGCAGCTAAACATAGATTAGGGAAATATTTTAGGTTTGGTGTGAGGGTCCAGTTTAAGACTATCTGAGGCGGTTTTAGAATTACCATCAGCATTTGGAGGTTCCTGGAGGCCCCTATGATCTGATACAAGCTGGCCAGTGCTCAGGATCTTAATTCTCATGGCAACCTAAACTGACTGACTAACACCACTGGGACAACCTAATATCCTTACTATATTTAAAGTCTGGCTTGCTTTTTAGACTTTAAACATTTATTGAAGATTGTGACATGCACATTGGCCATATTATCTCATTTCATCCTTGCAACAGTCCTATAAAGGAGGTTGCAATACACCCATTTTACAGATGCAGTTTAGAGAAACAACATTCAAAATCACATACTTAACAAGCAGATAAGTAGGAATTCAAAATTAGGTCAGCCTGACACTGAAGCCTTTGAACATTCCCTTTATTAN
benign
336,140
A genetic alteration at chromosome X, position 72609625, in gene PHKA1 (phosphorylase kinase regulatory subunit alpha 1)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Glycogen_storage_disease_IXd']
TTTTTTCCCTATAGAATTGTTTGAGCTCCTTATACATTCTGGTTATTAATCCCTTATCAGATAGGTAGTTGGTAAATATTTTCTCCCATTGCACCTTTCCAATTTGCTTTAAATGCTGAATGACTGACTGTAGAATGGTCGATGCTGAGTTCTTCGGCAATTTCTCATGCAGTTTTAAGAGGATCAGCTTCAACAACTGCTCTCAATTGGTCGTTGTCAACTTTCAATAGCAGGCCACTATGCTCCTCATCTTCAAGGCTCTCATCTCCTTTGCAAAACTTCTTGAACCACCACTGCACTGTACATTTGTTAGCAGTTCCTAGGCCAAATGCCAGGCCTGTAATCCGGGACCTCAAAAACCTGCTTGGTGCTCTACCCCACTGTGGCCAACCTGGTACCTAAGCTGCAAGAAAAAGTCCCCTTTACTCTTCCCTCTCCTTTTCTTAAGCAGAAGGAGTCTCTCCCTATACCCACCACGGCTGGGCATGTGTTTGGTCACACTTGGAACCAGAATGTCTGGTCACTGTGCTGATTGTTCAGGTCCCAAGGGCTGTTTAGTCAGCACGTGATAAATCCTGCCAAAACTGGGTACTTCTCTTCAAAGTAGCAGGTTCCCTTCTGGTGCAAGGTATGTGTCAAAATGTCATCCAGGAGCTACGGACTGGAATGGGAGTCTGATGCCTCTGCCTGGTGCCCTATCCTACTGTGGCTGAGCTGGTATCCAACTTGCAAGATAAAGTCCTCTTTACTATTTCCTCTCCTCTCCTCAGTGGAAGGAAGGATTCTCTCCCAGAGTTGCACTATCTGGAGTTGGAAGAGGGGTGGCACAAGCACTCCTTTGCCCACTCTAGCTGATGTCTCACTAGGCCGCATGCACCCCAAGTCCATTGGCTTCGAGTCCAGCATAGCACAAGGATTTGCCCAGGAATTGCAGTCCTTGTGGCCTAGACTGCTTTTTGAGTCTATTTAGTACCCAGAGCACTTTAAGCCCGCGGTGGTGAAGCTTGCTGGAACTTTTGTTTCTCTAAGCCTTCATATGGGAGCTTGAACTGGAACTCAAGGGTAACAGAAATCATGGACATAAACCAGGAAGGAAGGAGTATGCAGACATCAGCAAAAGTATCCCTTCTGTAGCCAATGTAGTAAAAAAAATTTTGTAAACAAAAAACATGCTCTGGATAGAGTTTAACCAGGAAAAAATGAGGGAGAAATATTGACAAAAGTTTTTTTTTAACTACATTGGCTACAGAAGTAGAACTGGCAAGCAGGGGGGAATACCCTTTTTAAAAATTACTCCTAGTAGAAAAACAGATTCTTCAGATCATTTATGAATGAAGTTAGAATCTCTCTAAAAATATTTCTTGGAGATACAGACTGTTTGCAAGATTTAAATTTTGGCACTGGTGTGATATGAAATTAAACACATTTACTGCAGATGAATTTTACTGGCATGGCCAATGGCAAAAGGAAGACTCATGTATAAAGACTGAATTTTCCATCCCAGCCCCATCACTTGACTTACATCTCCCTCCAGGCCAAGCCTATCTTAGGGTACTGTTTCCAATTGGAGGCTGTGGCAGACCTCAGACAGTGGCACTCTGATTACAGGGTTCCTGGAGGGGTGCTACCTCACATTGCTCTGTAAGTAACCATTTTTCCTCTTTGACTATGACCTCCATCCCCTTTATTCCCCATGAGCAGCATGGAGTTTCATGGTCAGCCCTGTGCTCTAGCCACTTTCTTTCACTTGCTCTTTCCAGAGTATGGCTGACATTTTGTGGTTGCTAATTCAGGGTACCCTGTTTGTTTTGTTTTTTGAATGGCAGGTATGGAAAATCCAACAAGTAAAAAGAGTTTGAGTACTACTCTGTGAGTTTTCTCCTTCATTTACTCTTGCCCTACCATTACCAACATTCTTCCACTAGGTGTCTCTGATAGAGGTGAACATATGTAGGACATTATCATCCACTGACAGATTAGGGCAAGGGAATTCTAAGTCCACACCACTCCTTCTCAGAGAAGCCTGACCAAACCCAGCCATACTCACGCAGAGATAGTCTTTTCTCGAGGTTCTGGAGGAAGTCCTACTGTCAAATGTTTCTGGTGGGAGAGAAGGTCTGTGCAGGCCTAACAAGAGATAGCATAATATTATCGTTTCTGTAACACCTCAGGTTTCCACAAACATTTCTCTTTTCAGCTGAAAAACCTTTGCTCCTCTTTAACATAATGACACACTGAACTCTCTTCCTCAGAAAATACCATGAAGATCAGAAAAGAAGGATTTCTAGGAAGAAACAATGAGGTCTTTTCATCTATCTCCTAGAAAGTAGGAACTTTTTTGTTTGGTTGGTTTATGGGGTTTTTTTCTTTCTTTTTAAAAAATTTGTTTAAATTTTTAAGTTTTCAATTTTTATGGATAAATAAGAGTTATACATATTTATGGAGTACATGTGATATTTTCATACAAGCATACAACATGTAATGATCAAACCTGGGTAATTGAGACATCCATCACCTCAATATTTATCATTTCTTTGTGTTGGCAAGATTCCAAATCTGCTCTTCTAGTTACTTTGAGATTTACAACAAATTATTGTAAACTATAGTCACCCTATTGTGACACCAAATACTAGATCTTATTCCTTCAATCTAGTTGTATTTTCATGCCCATTAACTAAACTTTCTCTATCCCCCACTCCCGACTACCCTTCCCAGCTTCTAGTATCCATCATTCTACTCTCTACCTCTATGAGATCAACTTTTTAAGCTCGCACATATGAGTGAGAACATGTGGTATTTGTCTTTCTGTGCCTGGGTTATTTCACCTAACATAGTGCCCTCCAGTTCCATTCATGTTACTGTAAATGACAGGGTTTTACTATTTTTGATGCAGAATAATATCCAATTGTGTATATATACCACATTTTCTTTATCTGCTCATCTTCTGATGGACATTTAGGTTTATTCCATACCTTTGCTATTGGGAATAGTGCTACAATAAACATGGGAGTTGTAGATATCTCTCCCATATACTGATTTCCTTTCTTTTTGATATATACCCAGCAGTTGGACTGCTGGATCCCATGGTAGTTCTACTTTTAGTTTTTTGATGAACCTCCATAGTGTTTTACATAAGTAGCTATACTAAGTTCCATTCCCACTAATGGTGTATGGATGTTTCCCTTTCTAGGAGGTAGGAACCTAGTGTAAATTCATTCTTAAGATATAGAATTCTTAATATCATTATAAAGATGTTATGGTTTATAACATTTTATAAATCTACAATTCTTACTTGTCATTCACAAACTAAAAGAACTGAATATCAAATTTTATGTGGAAAAGACATCTCAAATGGTTAGAGGCTATGGTTGTTTTAAAAAACAATTATAGAAACCAATTTTTAAAAAGCACGCTTATTTAGATTTGGTATAAATTCAAGAATTTATAGTACCTCATCAAGTGCTTCCACTTTCTTCCTTAAGATCCCAGAAATGTATCGGATCAGGCCCCAGTGACGAATTTCTCCCACTTTGCCATACAGCTCGGTAAGAAGCTCTCTCACTGTAGCACTCCGTTCATTATACAATTCAGTGTTCCAGTCAGGTCCTCTAGAATTTTAACGACAGGACTACATCAGTTTTAAGTAAAGCTTCTGGCAATCATCTTTTCTTTCAGTGTTATAATGAACATGCCTGTTTTTGATAGGTCTCTCTCACTAGGAAATCAATGTAATTTACTAAGAATCCTTATAAAACTATGATTAACAGTCAGCTCTGAAAGCCAGTACCTACACAAGAATAAGTCTTAGTTTTAGCTGTGCTTTTGACAAAATGCATTCTTTTACCCTATTCATGGGCTTCAATATAGTTGAAATTAAAGACAAAGATTTAACAAATGAATTATTTCAAAAATCACTGTAAGGAAAGTCATATGACAAATTACCAACTAGGAAAAAATGTTTGCAATTCATAGGATAATTTCCCTTATATATAAAGAACTCCAACATGTAGATTTAAAAAATTAAAAACAAAAGAAAATCTGGCAAAACAAATACTGCTGGCAAAACAAATACTGCTGGCAAAACAAATAGATGGCT
TTTTTTCCCTATAGAATTGTTTGAGCTCCTTATACATTCTGGTTATTAATCCCTTATCAGATAGGTAGTTGGTAAATATTTTCTCCCATTGCACCTTTCCAATTTGCTTTAAATGCTGAATGACTGACTGTAGAATGGTCGATGCTGAGTTCTTCGGCAATTTCTCATGCAGTTTTAAGAGGATCAGCTTCAACAACTGCTCTCAATTGGTCGTTGTCAACTTTCAATAGCAGGCCACTATGCTCCTCATCTTCAAGGCTCTCATCTCCTTTGCAAAACTTCTTGAACCACCACTGCACTGTACATTTGTTAGCAGTTCCTAGGCCAAATGCCAGGCCTGTAATCCGGGACCTCAAAAACCTGCTTGGTGCTCTACCCCACTGTGGCCAACCTGGTACCTAAGCTGCAAGAAAAAGTCCCCTTTACTCTTCCCTCTCCTTTTCTTAAGCAGAAGGAGTCTCTCCCTATACCCACCACGGCTGGGCATGTGTTTGGTCACACTTGGAACCAGAATGTCTGGTCACTGTGCTGATTGTTCAGGTCCCAAGGGCTGTTTAGTCAGCACGTGATAAATCCTGCCAAAACTGGGTACTTCTCTTCAAAGTAGCAGGTTCCCTTCTGGTGCAAGGTATGTGTCAAAATGTCATCCAGGAGCTACGGACTGGAATGGGAGTCTGATGCCTCTGCCTGGTGCCCTATCCTACTGTGGCTGAGCTGGTATCCAACTTGCAAGATAAAGTCCTCTTTACTATTTCCTCTCCTCTCCTCAGTGGAAGGAAGGATTCTCTCCCAGAGTTGCACTATCTGGAGTTGGAAGAGGGGTGGCACAAGCACTCCTTTGCCCACTCTAGCTGATGTCTCACTAGGCCGCATGCACCCCAAGTCCATTGGCTTCGAGTCCAGCATAGCACAAGGATTTGCCCAGGAATTGCAGTCCTTGTGGCCTAGACTGCTTTTTGAGTCTATTTAGTACCCAGAGCACTTTAAGCCCGCGGTGGTGAAGCTTGCTGGAACTTTTGTTTCTCTAAGCCTTCATATGGGAGCTTGAACTGGAACTCAAGGGTAACAGAAATCATGGACATAAACCAGGAAGGAAGGAGTATGCAGACATCAGCAAAAGTATCCCTTCTGTAGCCAATGTAGTAAAAAAAATTTTGTAAACAAAAAACATGCTCTGGATAGAGTTTAACCAGGAAAAAATGAGGGAGAAATATTGACAAAAGTTTTTTTTTAACTACATTGGCTACAGAAGTAGAACTGGCAAGCAGGGGGGAATACCCTTTTTAAAAATTACTCCTAGTAGAAAAACAGATTCTTCAGATCATTTATGAATGAAGTTAGAATCTCTCTAAAAATATTTCTTGGAGATACAGACTGTTTGCAAGATTTAAATTTTGGCACTGGTGTGATATGAAATTAAACACATTTACTGCAGATGAATTTTACTGGCATGGCCAATGGCAAAAGGAAGACTCATGTATAAAGACTGAATTTTCCATCCCAGCCCCATCACTTGACTTACATCTCCCTCCAGGCCAAGCCTATCTTAGGGTACTGTTTCCAATTGGAGGCTGTGGCAGACCTCAGACAGTGGCACTCTGATTACAGGGTTCCTGGAGGGGTGCTACCTCACATTGCTCTGTAAGTAACCATTTTTCCTCTTTGACTATGACCTCCATCCCCTTTATTCCCCATGAGCAGCATGGAGTTTCATGGTCAGCCCTGTGCTCTAGCCACTTTCTTTCACTTGCTCTTTCCAGAGTATGGCTGACATTTTGTGGTTGCTAATTCAGGGTACCCTGTTTGTTTTGTTTTTTGAATGGCAGGTATGGAAAATCCAACAAGTAAAAAGAGTTTGAGTACTACTCTGTGAGTTTTCTCCTTCATTTACTCTTGCCCTACCATTACCAACATTCTTCCACTAGGTGTCTCTGATAGAGGTGAACATATGTAGGACATTATCATCCACTGACAGATTAGGGCAAGGGAATTCTAAGTCCACACCACTCCTTCTCAGAGAAGCCTGACCAAACCCAGCCATACTCACGCAGATAGTCTTTTCTCGAGGTTCTGGAGGAAGTCCTACTGTCAAATGTTTCTGGTGGGAGAGAAGGTCTGTGCAGGCCTAACAAGAGATAGCATAATATTATCGTTTCTGTAACACCTCAGGTTTCCACAAACATTTCTCTTTTCAGCTGAAAAACCTTTGCTCCTCTTTAACATAATGACACACTGAACTCTCTTCCTCAGAAAATACCATGAAGATCAGAAAAGAAGGATTTCTAGGAAGAAACAATGAGGTCTTTTCATCTATCTCCTAGAAAGTAGGAACTTTTTTGTTTGGTTGGTTTATGGGGTTTTTTTCTTTCTTTTTAAAAAATTTGTTTAAATTTTTAAGTTTTCAATTTTTATGGATAAATAAGAGTTATACATATTTATGGAGTACATGTGATATTTTCATACAAGCATACAACATGTAATGATCAAACCTGGGTAATTGAGACATCCATCACCTCAATATTTATCATTTCTTTGTGTTGGCAAGATTCCAAATCTGCTCTTCTAGTTACTTTGAGATTTACAACAAATTATTGTAAACTATAGTCACCCTATTGTGACACCAAATACTAGATCTTATTCCTTCAATCTAGTTGTATTTTCATGCCCATTAACTAAACTTTCTCTATCCCCCACTCCCGACTACCCTTCCCAGCTTCTAGTATCCATCATTCTACTCTCTACCTCTATGAGATCAACTTTTTAAGCTCGCACATATGAGTGAGAACATGTGGTATTTGTCTTTCTGTGCCTGGGTTATTTCACCTAACATAGTGCCCTCCAGTTCCATTCATGTTACTGTAAATGACAGGGTTTTACTATTTTTGATGCAGAATAATATCCAATTGTGTATATATACCACATTTTCTTTATCTGCTCATCTTCTGATGGACATTTAGGTTTATTCCATACCTTTGCTATTGGGAATAGTGCTACAATAAACATGGGAGTTGTAGATATCTCTCCCATATACTGATTTCCTTTCTTTTTGATATATACCCAGCAGTTGGACTGCTGGATCCCATGGTAGTTCTACTTTTAGTTTTTTGATGAACCTCCATAGTGTTTTACATAAGTAGCTATACTAAGTTCCATTCCCACTAATGGTGTATGGATGTTTCCCTTTCTAGGAGGTAGGAACCTAGTGTAAATTCATTCTTAAGATATAGAATTCTTAATATCATTATAAAGATGTTATGGTTTATAACATTTTATAAATCTACAATTCTTACTTGTCATTCACAAACTAAAAGAACTGAATATCAAATTTTATGTGGAAAAGACATCTCAAATGGTTAGAGGCTATGGTTGTTTTAAAAAACAATTATAGAAACCAATTTTTAAAAAGCACGCTTATTTAGATTTGGTATAAATTCAAGAATTTATAGTACCTCATCAAGTGCTTCCACTTTCTTCCTTAAGATCCCAGAAATGTATCGGATCAGGCCCCAGTGACGAATTTCTCCCACTTTGCCATACAGCTCGGTAAGAAGCTCTCTCACTGTAGCACTCCGTTCATTATACAATTCAGTGTTCCAGTCAGGTCCTCTAGAATTTTAACGACAGGACTACATCAGTTTTAAGTAAAGCTTCTGGCAATCATCTTTTCTTTCAGTGTTATAATGAACATGCCTGTTTTTGATAGGTCTCTCTCACTAGGAAATCAATGTAATTTACTAAGAATCCTTATAAAACTATGATTAACAGTCAGCTCTGAAAGCCAGTACCTACACAAGAATAAGTCTTAGTTTTAGCTGTGCTTTTGACAAAATGCATTCTTTTACCCTATTCATGGGCTTCAATATAGTTGAAATTAAAGACAAAGATTTAACAAATGAATTATTTCAAAAATCACTGTAAGGAAAGTCATATGACAAATTACCAACTAGGAAAAAATGTTTGCAATTCATAGGATAATTTCCCTTATATATAAAGAACTCCAACATGTAGATTTAAAAAATTAAAAACAAAAGAAAATCTGGCAAAACAAATACTGCTGGCAAAACAAATACTGCTGGCAAAACAAATAGATGGCTNN
pathogenic
336,160
A genetic variant at chromosome X, position 72644474, affecting gene PHKA1 (phosphorylase kinase regulatory subunit alpha 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Glycogen_storage_disease_IXd']
AGAGACTTCTAAGAGTTACAAAGAAGGTGACTGTAAGATCAACTAGTACTCAAGTGGGTAAGATGTTGGCTAAATAGGGAAATACCTTCCTTATCTCAAGGGATTTAGTGCTAGTGGACTAGTATCTGGAGACTAGAAGTGCATTATAGGTCTGGGGTGACAGGGAATGGCCAAAAAAAATAAAAACAGGAAGCAGGTTCTGGGAAGGGGTGAGGTATGTAACCCACCTAGCAAAGCATCCACCCAAATCAGCCTCAGAAGTTTCAGGAGCCTTGACTTGGTATTTACCTCAGTTAGGGTTGAGTAAATAGAGGGAACCAGGAGTATTTTATAATATTCAAGCTAATTTGTGGCTAGATTTTAGAAATTTATTAGGATCTGAGACATATTCAACAAATTTGTTAATTTCTTTGTGTATATATTTTAGTTTTTCATTATCTTTTTAAAGCAAAGTTTCTTTAGAAAATTCTAATCATGTTATATTTGAATTTTTAGGAAAGGGACATTCCTACATCATAGCTAAGATGGAAGAAAGAAATCCATATACTCCTAAAGCCAGAAGCCATGTTAATAGCTCCGGAATGCAAGGAGTTCAAGCCTTGTTGGCATTAAATATATGTTCCTAGAGACAGACAAAAGTCAGCTCTGACTCTTGGTCCTTTCCTCCTTGGTTGATTCCCTCTCAATTTAGACAAAGAAATTAAGTGACTGGAGTTACGTGCCAGAGAAAAGGGAAGGAGACTGGTTTTAAGCTGGGAATACTTGCCTTAACTGTAATTACTAACATACCATTCTTGGGTGATAAAAAAGTACACATACACACATACACGCACACACACACACGCGCGCACACACATATACAAACTAACTTCTGGGTTTGTAAGTGGCAATCCACTACCTAAGATCCAATCTTTTACAAATCTACTCCCTTGTGGTTTAAGATTGTATTACTTTTCTATTGGTTCTATAACAAATTACCACAAACTTGGTGGCTTAAAACAACACAGATTTATACTTCTACAGTTCTTGGCATCATGAGTCCAAAATGAGCATTATGGGACTAAAATCAAAACCAAAGTGTCAGCAGGGTTGATTCCTTCTGGAGGCTCCAGGGAAGAATCTATTCCTTGCCTCTTCCAGCTTCTAGATGATGTGGGCATTCCTTGGCTCATAGCCTTATCACTATAATCTCTTGCTTCTGTTGTCACATCTCCTACTTTTATAGTCTGGTCTTCCTCTGATTCCTTTTATAAGGACACTTGTGATTACATTTAGGGACCACCTGGGTAATCCAGGATAAGCTCCCTATCTCAAATGAGTCCATTTGGCCATATAAGTTAAGGTTTATAGGTTCCAGGAATTAGGACTTGTATATCTTTGGGGAGTCATTATTCAGTCTTCCACAAGAGTAGTTTAGAATTTCTTTTAGATAACAATATAGTAATTTGTTTAATGCAAAAAATCTATCACTAAGTTTAATATGTGAATTAATTAAAAAAATAAGTACTAATTAAAAATAAGTATTATATTAAGGAATCTTTTATATTATCAACTAGTTCATTAAATGACAAAGTATAAAAGACCTAAAAACAAGTTCCTTGGCTATCATTCCATATAAAATAAGCAAGTATTTGAAAAAGAGGTATAGGCTCCAAGAAAGGAGAGAACATGTTATTTAAGCACACACTTGGAATAAAGATACAATATTGGCTGATAATAGTCATGCCTTATGTACCCAAAGGGTTCATAAAACACACCTAAAATTATCAGGCCTGCTCAGAATAGAGAAGGTAAGAAAATTGGATTCTAGAGACTCTAAATTCCTTCTCAGATCCAGCTTAATAAAGCAATACACAATCATGAAGAAGAAAAAAGGATGGAAACCAGCCTATAATGAATAATGCTTTGATTCTAGCAGGCTAGCCAATCTCCTTACCTAGGCTGGAATAAATGTGGCTGAGAATACGAGCTGGTTGTACTCTGATGGGGTATACCTCAGCAATGGTCTCCACGTAAATTCCCTTGTCCTTCAAAATGGTCTTGATTTCTTCTGTTTCAGCTAGAATGGAGACTAGAGGAGACAAAGAAGATGAGGTCAACAGAAAATTTTATTTCAATAGCAACTTAACAATCTCTCAAGTTATATAATTTCTTTTAAAGAGAAAAAAAGGAAATGGGAGGAAATGAACAGTTATTGAGGAACTTTGATAAAATAAGTATCATGCTAAATAATATTATCTAAAAGGAAAAGGAAAATGAAAAGATCTCAAGACTAGAGCATTAGATTTTGCTTTTTGCCTAAATACTTATGTGCTCCTAGAGAATACCACACTCTTTTTATATCTAAGATTCCATGTTTAAATGGGAGAAAAATCCATCATGAGATTTGGTATAGCTTTGGTAAAAACTGATTCCCCGAGTTCTTTTGTATCAGTAAACCTAAGGTCAGAGCCAGGTATGTGGGGGTAATAAAGAACACCCTAATGACAAGAGTTGCCTATAGCTAGAGAATGATAGAAGGCATGGTGAATTGGGGATAACAATTTGAGTCATCAACATATAGAAGGTATTATAGTTGAAACTGTGTGTTTTTTAGGCAGCAGGTAGCGGGTGCTGGGGAGAGATGGGGGATGAAACTTCTCTAGATTCAGAGCCTGACAAGCCTGGACAGCTCTCTTTTCTTCCTCTTATACTCCTGTCACTGAAGTAGGAAGCCCAACTACAAGAGAGGAGGCTAGGCCAGCTTCCTGATTCTTTTTTCACTTTCGCTATATGGAACAGACACCTGGCTGGGGGCCAGTAATCCAATTGAGGCTTTAGCTGTCTTGACACTAAGCAACTGTGGCAAATGTGCCCTCTACTCCTGCTCCTCTAGTGCTGGTAGATGTGATGGATTGTTCACAGGAAAAAGAATGCACTGCTTGGCTTACCATTATTTTCTACATTGAGTTTTTGAAGCAAAGGCTTAGTTAACAAAGTGCTACTTTGCCTTCCTTTGCCATTATCCTTTGTGTATTTTTCTATCTTGGGAACCTCATGCTAATGGGCTGCTGTTGTCTGGGCCAGGATAGCAGGATATGTTGATCACAGAGTCCCCTGGACATAACACCATCTTGATTACTTCTAACTGAAAACATGAAAATAAAAGAGATTCTTCAGGGAAAAATATGCAGAGGAAGAATGATAGGGGGCTGAGGACAGTCCAGGAAAAAACATTTGGCAATTCATTCATTCATTAGTAAACATTTATTAAGTACCTCAATGGATGAGGTGCTATGCTAGTCACTAGGGATACAGAAATGGATAAATTAGTCTTTCCCTCAAGGAGCTCACAGTGTAACCGAAGTGGCATACACATGGATTGTAAAATGACCTGCTAGGTAAATAGAGATAAGTGCACAAAACTTTATGAGACCATCCAGGAGTGACACCTAGGTAGTGTGGGGTTGGGAGGAGTAGTATCAGGAAAGGCTTCTGCAAAGTGTTGATGCCTAAACTGAGTTTGAAATAATGAATAAGTTAGCTAGGAGAAACAAGGGATTAGGAAGGATATAGCCCTTCTAGGAAGAGAGTCCAGAATGAACTTATCAAGCACAGAGATGAAAAACAGCATGGCTGCATGTATAGAGGGAGGTGGGAAGAACCACATACACTTCAATATTGCTGTAGCATAATATACCTTGCATAGTGGCAAAAGAAATGGATCTGGAAAGATAGACAGGAGTTAGAGCATCGTGAAGGGCATATGCATCACTTGAAGGATTTTGTATTTCATCTTTGGGCCATGCTTTCCAAACTGCTTTCTACTGAGCCTTAGGATTCTTCATGGGAATTGGTTGTAAGAGTAGAGGGGACTGAAAGACAGTCAAGTGAACAATACTCTGGGGCCCCAGGAGTACCTTCAACCCAAGCAACTCATTTTTTTGTTTTATAAAATATTTAGAAAATTCTTATTTAGTGCCTCTTATGTGCTAGGCACTGCCATATGTTAAGGACATGATCCCTACATGGAAAAAATGAGACGGCTATAGAGTCCTCCTAGAGGCCTGAATAGAAGTTAACCTGCAACAGGATATGGTAAAGGTAAGGAAGAAAT
AGAGACTTCTAAGAGTTACAAAGAAGGTGACTGTAAGATCAACTAGTACTCAAGTGGGTAAGATGTTGGCTAAATAGGGAAATACCTTCCTTATCTCAAGGGATTTAGTGCTAGTGGACTAGTATCTGGAGACTAGAAGTGCATTATAGGTCTGGGGTGACAGGGAATGGCCAAAAAAAATAAAAACAGGAAGCAGGTTCTGGGAAGGGGTGAGGTATGTAACCCACCTAGCAAAGCATCCACCCAAATCAGCCTCAGAAGTTTCAGGAGCCTTGACTTGGTATTTACCTCAGTTAGGGTTGAGTAAATAGAGGGAACCAGGAGTATTTTATAATATTCAAGCTAATTTGTGGCTAGATTTTAGAAATTTATTAGGATCTGAGACATATTCAACAAATTTGTTAATTTCTTTGTGTATATATTTTAGTTTTTCATTATCTTTTTAAAGCAAAGTTTCTTTAGAAAATTCTAATCATGTTATATTTGAATTTTTAGGAAAGGGACATTCCTACATCATAGCTAAGATGGAAGAAAGAAATCCATATACTCCTAAAGCCAGAAGCCATGTTAATAGCTCCGGAATGCAAGGAGTTCAAGCCTTGTTGGCATTAAATATATGTTCCTAGAGACAGACAAAAGTCAGCTCTGACTCTTGGTCCTTTCCTCCTTGGTTGATTCCCTCTCAATTTAGACAAAGAAATTAAGTGACTGGAGTTACGTGCCAGAGAAAAGGGAAGGAGACTGGTTTTAAGCTGGGAATACTTGCCTTAACTGTAATTACTAACATACCATTCTTGGGTGATAAAAAAGTACACATACACACATACACGCACACACACACACGCGCGCACACACATATACAAACTAACTTCTGGGTTTGTAAGTGGCAATCCACTACCTAAGATCCAATCTTTTACAAATCTACTCCCTTGTGGTTTAAGATTGTATTACTTTTCTATTGGTTCTATAACAAATTACCACAAACTTGGTGGCTTAAAACAACACAGATTTATACTTCTACAGTTCTTGGCATCATGAGTCCAAAATGAGCATTATGGGACTAAAATCAAAACCAAAGTGTCAGCAGGGTTGATTCCTTCTGGAGGCTCCAGGGAAGAATCTATTCCTTGCCTCTTCCAGCTTCTAGATGATGTGGGCATTCCTTGGCTCATAGCCTTATCACTATAATCTCTTGCTTCTGTTGTCACATCTCCTACTTTTATAGTCTGGTCTTCCTCTGATTCCTTTTATAAGGACACTTGTGATTACATTTAGGGACCACCTGGGTAATCCAGGATAAGCTCCCTATCTCAAATGAGTCCATTTGGCCATATAAGTTAAGGTTTATAGGTTCCAGGAATTAGGACTTGTATATCTTTGGGGAGTCATTATTCAGTCTTCCACAAGAGTAGTTTAGAATTTCTTTTAGATAACAATATAGTAATTTGTTTAATGCAAAAAATCTATCACTAAGTTTAATATGTGAATTAATTAAAAAAATAAGTACTAATTAAAAATAAGTATTATATTAAGGAATCTTTTATATTATCAACTAGTTCATTAAATGACAAAGTATAAAAGACCTAAAAACAAGTTCCTTGGCTATCATTCCATATAAAATAAGCAAGTATTTGAAAAAGAGGTATAGGCTCCAAGAAAGGAGAGAACATGTTATTTAAGCACACACTTGGAATAAAGATACAATATTGGCTGATAATAGTCATGCCTTATGTACCCAAAGGGTTCATAAAACACACCTAAAATTATCAGGCCTGCTCAGAATAGAGAAGGTAAGAAAATTGGATTCTAGAGACTCTAAATTCCTTCTCAGATCCAGCTTAATAAAGCAATACACAATCATGAAGAAGAAAAAAGGATGGAAACCAGCCTATAATGAATAATGCTTTGATTCTAGCAGGCTAGCCAATCTCCTTACCTAGGCTGGAATAAATGTGGCTGAGAATACGAGCTGGTTGTACTCTGATGGGGTATACCTCAGCAATGGTCTCCACGTAAATTCCCTTGTCCTTCAAAATGGTCTTGATTTCTTGTTTCAGCTAGAATGGAGACTAGAGGAGACAAAGAAGATGAGGTCAACAGAAAATTTTATTTCAATAGCAACTTAACAATCTCTCAAGTTATATAATTTCTTTTAAAGAGAAAAAAAGGAAATGGGAGGAAATGAACAGTTATTGAGGAACTTTGATAAAATAAGTATCATGCTAAATAATATTATCTAAAAGGAAAAGGAAAATGAAAAGATCTCAAGACTAGAGCATTAGATTTTGCTTTTTGCCTAAATACTTATGTGCTCCTAGAGAATACCACACTCTTTTTATATCTAAGATTCCATGTTTAAATGGGAGAAAAATCCATCATGAGATTTGGTATAGCTTTGGTAAAAACTGATTCCCCGAGTTCTTTTGTATCAGTAAACCTAAGGTCAGAGCCAGGTATGTGGGGGTAATAAAGAACACCCTAATGACAAGAGTTGCCTATAGCTAGAGAATGATAGAAGGCATGGTGAATTGGGGATAACAATTTGAGTCATCAACATATAGAAGGTATTATAGTTGAAACTGTGTGTTTTTTAGGCAGCAGGTAGCGGGTGCTGGGGAGAGATGGGGGATGAAACTTCTCTAGATTCAGAGCCTGACAAGCCTGGACAGCTCTCTTTTCTTCCTCTTATACTCCTGTCACTGAAGTAGGAAGCCCAACTACAAGAGAGGAGGCTAGGCCAGCTTCCTGATTCTTTTTTCACTTTCGCTATATGGAACAGACACCTGGCTGGGGGCCAGTAATCCAATTGAGGCTTTAGCTGTCTTGACACTAAGCAACTGTGGCAAATGTGCCCTCTACTCCTGCTCCTCTAGTGCTGGTAGATGTGATGGATTGTTCACAGGAAAAAGAATGCACTGCTTGGCTTACCATTATTTTCTACATTGAGTTTTTGAAGCAAAGGCTTAGTTAACAAAGTGCTACTTTGCCTTCCTTTGCCATTATCCTTTGTGTATTTTTCTATCTTGGGAACCTCATGCTAATGGGCTGCTGTTGTCTGGGCCAGGATAGCAGGATATGTTGATCACAGAGTCCCCTGGACATAACACCATCTTGATTACTTCTAACTGAAAACATGAAAATAAAAGAGATTCTTCAGGGAAAAATATGCAGAGGAAGAATGATAGGGGGCTGAGGACAGTCCAGGAAAAAACATTTGGCAATTCATTCATTCATTAGTAAACATTTATTAAGTACCTCAATGGATGAGGTGCTATGCTAGTCACTAGGGATACAGAAATGGATAAATTAGTCTTTCCCTCAAGGAGCTCACAGTGTAACCGAAGTGGCATACACATGGATTGTAAAATGACCTGCTAGGTAAATAGAGATAAGTGCACAAAACTTTATGAGACCATCCAGGAGTGACACCTAGGTAGTGTGGGGTTGGGAGGAGTAGTATCAGGAAAGGCTTCTGCAAAGTGTTGATGCCTAAACTGAGTTTGAAATAATGAATAAGTTAGCTAGGAGAAACAAGGGATTAGGAAGGATATAGCCCTTCTAGGAAGAGAGTCCAGAATGAACTTATCAAGCACAGAGATGAAAAACAGCATGGCTGCATGTATAGAGGGAGGTGGGAAGAACCACATACACTTCAATATTGCTGTAGCATAATATACCTTGCATAGTGGCAAAAGAAATGGATCTGGAAAGATAGACAGGAGTTAGAGCATCGTGAAGGGCATATGCATCACTTGAAGGATTTTGTATTTCATCTTTGGGCCATGCTTTCCAAACTGCTTTCTACTGAGCCTTAGGATTCTTCATGGGAATTGGTTGTAAGAGTAGAGGGGACTGAAAGACAGTCAAGTGAACAATACTCTGGGGCCCCAGGAGTACCTTCAACCCAAGCAACTCATTTTTTTGTTTTATAAAATATTTAGAAAATTCTTATTTAGTGCCTCTTATGTGCTAGGCACTGCCATATGTTAAGGACATGATCCCTACATGGAAAAAATGAGACGGCTATAGAGTCCTCCTAGAGGCCTGAATAGAAGTTAACCTGCAACAGGATATGGTAAAGGTAAGGAAGAAATNN
pathogenic
336,176
Is the genetic change at chromosome X, position 74421523, within gene SLC16A2 (solute carrier family 16 member 2) benign or pathogenic? Name the disease(s) if pathogenic.
benign
CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGT
CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATA
benign
336,202
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 74421523, gene SLC16A2 (solute carrier family 16 member 2). What disease(s) is it linked to if pathogenic?
benign
CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGT
CTGGGCTACAGAGCGAGACTGTCTCAAAAAGAAAAAAAAAATTCCAGGCCCATCTTGAACACCACCTCTTCCAGAAGCCCACTGTGATAGTGCAGTCAGATCCTGCCTTCCCTCCTCTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTNNNNNN
benign
336,203
Does the genetic variant at chromosome X, position 74421733, impacting gene SLC16A2 (solute carrier family 16 member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Allan-Herndon-Dudley_syndrome', 'Spastic_paraplegia']
TAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCCA
TAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTTCCACCCAGCTCCGCCAGCCCTCAGGTGCTTAATGACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCC
pathogenic
336,207
Variant at chromosome position 74421993, chromosome X, gene SLC16A2 (solute carrier family 16 member 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Inborn_genetic_diseases', 'Spastic_paraplegia']
ACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCCAAGGGCACCTGCTGAGCATTGCCCTGTGGTTGAAGGCAGGCTGTTGGCCTTCAGGATCAGTGAGTGGCAAAGTCTGAGTGAAACTTGATGAGAAGCAGTAGAGGCTAGGCTGAAGCTAGGCCCTGGCATTTATATGGTGTGAGGAGGCCTAGAGCTGTGATCTTAGGAGTGTATAATAAAACTTGGAAAAACCACTATTTTACCAGGAAGAGGCTCACTGCTGGGGAACAGACTTCAAAGTAGGTGATCATAGGGGACTCA
ACTGTATTTACAGGCATCTAGCGCAGCCACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCCAAGGGCACCTGCTGAGCATTGCCCTGTGGTTGAAGGCAGGCTGTTGGCCTTCAGGATCAGTGAGTGGCAAAGTCTGAGTGAAACTTGATGAGAAGCAGTAGAGGCTAGGCTGAAGCTAGGCCCTGGCATTTATATGGTGTGAGGAGGCCTAGAGCTGTGATCTTAGGAGTGTATAATAAAACTTGGAAAAACCACTATTTTACCAGGAAGAGGCTCACTGCTGGGGAACAGACTTCAAAGTAGGTGATCATAGGGGACTCANN
pathogenic
336,214
The mutation impacting SLC16A2 (solute carrier family 16 member 2) on chromosome X at position 74422037: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Allan-Herndon-Dudley_syndrome', 'Spastic_paraplegia']
GCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCCAAGGGCACCTGCTGAGCATTGCCCTGTGGTTGAAGGCAGGCTGTTGGCCTTCAGGATCAGTGAGTGGCAAAGTCTGAGTGAAACTTGATGAGAAGCAGTAGAGGCTAGGCTGAAGCTAGGCCCTGGCATTTATATGGTGTGAGGAGGCCTAGAGCTGTGATCTTAGGAGTGTATAATAAAACTTGGAAAAACCACTATTTTACCAGGAAGAGGCTCACTGCTGGGGAACAGACTTCAAAGTAGGTGATCATAGGGGACTCAGGGGGAGGGCTGGCTGGGACTTTCCGGTCAAGACCTCACAGTGC
GCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAACAAACTCTCCCTTACCCTCAGTGGGGCTGGGGCCTCAGTCTGCGACATACAGTGGGACTCCCATGTCTGCATGCCTGAGGTGGGCGGAAGGGGGCGGTGGGTGCTGGGAAGACATCCGTCCGCTTGCAGCTCCGCTGAGTCTCCAGCACCTGAAAAGCCGCGGCCGAGGCCTGAGGGACCAGCCCAGCCGAGATATCGGGGGCGGGGCAGCCCAATCCCAAACTGGCGGCTGGACCCGACTCCAACTCGTTCCTCCTAAGTCCGGGACAGATTGTCGGGAGGAGCTTGAACTGAGCTTCGGCTCCCGACTGGGCCTGGGCCCGGCCCCCACTGGTGCCACCTCCCTCCCTTCCTGGCCCGGCTCCTGGCCCACACTCGGCCCTGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCGGCCCTGGCCCGGCCCAGACCCGGCCCTCTGAGGCTCCTCCGGGCTCCAGGTTGGCGCAAACAAAGCCCTGATTGACTGCCCGGAGGGGCGGGCCTCGCTGCATGGCCGCCTCCTCCCCTCCCAGGCCGCCAGGGATTTGCCGGGAAGAGCGGGGGCAGGGGGAGACTCCCGGGGGTGCGCAGGACCGCGGGGGGCCGAGTCCTCGGGCTCGAGAAGATTGTGTCCACCCGCTGTCCGAGGCCCAGGCTGTCCCCTCAGGTCGTCCTCCTCAAGTCCAAGGAGGGACATGGGAGCTCCTGAGGGCAGGGTGGGGTTCCTCGCGGGCCAGCTGTCGTCCTAGGGTCCCCGGTGCCACCTCAGTTGCGGGCTGCTTGTGAGGAAGGAGGGTATGGGAGCAAAAAATAGGAGGGGTCTTCCCGAGGCTCGGGGTTGATCAGTGTCGGTTCTAGAGCCTGCGGGGAAAAGAGGGCAGGAGAACAGGATAGTTTGTGCTTCCTTTTTTCCATTTTAACTTTTCCTCTAACGGGCATCCGGGCAAGAACAGGGTTCAGTAGTTTGGGAAGGGAGCTGGGGGAGGCAGTGGCGGCTGGAGTAGGTAGGCGAGTAAAAGGAGGAGGAAGGGCTGGGGAGAAGAGCGAGGCTGTAGCGGCTGCCTGTTGAGGGAGGAAGAGGTGGGGGGTGTGGAGGAGGGGGAGGAGAGAGAGATGACATGGGGAGAGGAGGAGGGGGGTTGGACGTGGGAGGAGGAGGAGAGGGCTCGAGGGACCGTCTGTCGCGGGACGGGCTGGCCAGCTGGGGCGCGGAGCCTGGAGGAGGAGGCAGCGGCAGCGGCAGCAGCAGCCCTCCGAGCAGCAGCAGCTGCAGCAGCAGAAACAAGTACCAGCCACAAAGCGGCTCCTCTGGCCCAAGCAGCCACAGTCCCCCCGCCGCGATGGCGCTGCAAAGCCAGGCGAGCGAGGAAGCAAAGGGGCCCTGGCAGGAGGCAGACCAGGAACAGCAGGAGCCGGTGGGTAGCCCAGAGCCGGAGTCTGAGCCGGAGCCTGAGCCCGAGCCCGAGCCCGTGCCAGTGCCCCCGCCCGAGCCCCAGCCGGAGCCCCAGCCCCTACCGGACCCCGCACCCCTGCCGGAGCTGGAGTTCGAGTCCGAGCGGGTGCACGAACCCGAGCCCACGCCTACGGTAGAGACCCGCGGCACCGCGCGCGGCTTCCAGCCTCCCGAAGGTGGCTTCGGCTGGGTGGTGGTGTTCGCTGCCACCTGGTGCAACGGCTCCATCTTCGGCATCCATAACTCTGTCGGGATCCTCTACTCCATGCTGCTAGAGGAGGAAAAGGAAAAAAAATCGCCAAGTGGAGTTCCAAGCAGGTGAGTGGCCCCGCACGCCCCACTTGGCATTTTGGGCAAGGTTGGCCGCTCCCGCTGCCACCGACCCCATACCTCCCGGTCCGAGGCGCCCCTCCAACGCGCCTCTCCGACTCCTCCCCTTACCCCTTACCCCTTGCCCCTTGCCCCTTTCCATGGCTCTCCTAGGGTGCGGGTTGCGGGGCTTTGGGCAGCTTGGACTGGGGAGACTAGGTGCAAGGCGTCCCGGGGGTACGAACTGGGACATTCATTGATCCTTGGCAAGCAATGGACTTTTTTTTGCCCTGGGACAAATCTAAATGCACCTTTCAGGTTTAAGGTACCTTTGCCCCTGTGTGCTGGGGGAAAATATTTGCAGGACTTTTTTTTTTTTTGGAGGTGGGGAGAAGTCATGAGGAGAGGAGAGAATTGAGAGGCGGGGCGGGCTCTGAGAGAAGCACTGTACCGCTGATCTCCGCAGCAGCCCCCCGGTTCCTTTGGGGAAACGGAGGTGTTTTCTGTTAAAAACACTTTAGGAATCCTGATGACTATGAGCGAAGAGTCAAACACATGGCAGGCGTGCGTGTCTGCAAGAGAGAAAGGGAGGGAGGGAGTTCGAGTCGGGGTGTGAGTGCGTCTCTGGCCGCCGCCGTTACGGCCCAGCTGGGCCCGGCAGTCCTCTGCCGCCCCGCGGGAGTGAATGGATCTCCGTGCCCTATGAGCCGAGCCCCAGAGCGGGCGGGGAGGCGGTCTCCGCAGTCTCCTGCCAGAGAGGCGTGAGGCCGCAGGCAGGCTGGGCCCTGCTGCTCACTCCGCACCGCCCCCAACTTCAGCCCTGCCTTCCCCGGCAACCCGCGCCTCTCTGCTACCGGTGGGGTGCCTCGTTCGGCCTACAGCCTGAGTGCCAGACCCGCCATTCCAGCTTTCCCCTGGAGCTGACTTGATCTCAGACAGAGTTGGGGGGCATAGCCCTCGCTTTCCAGGCCAGTGGACGCAAGACCCCAGGCGTGTGCGCTCTTCTCATTGAGGCCGCCTGTGAGCTGGGAGAAGTCAGAGGAACCATCTCGCTTTCCCAGCAAAGCCGCTGGCGAAATCCCTCAGCAGTTCTGGTGAGGGATTCAGACGAAGACGGGGGATTGGGATGCCCTCTCTGGCAAGGCTTGCTCCCTCTCGTGGCTCCTCAGGACAGCTCGACTCTTGCCACCAGCCCCAAGTTCACAACTCAGAATATGTGGCTTTTCGCAGTGTTGCCCTCGGACTGAGGAGTTCCATCCTCTCGCCAACCTCCAACCCCCACATATTTCTACTGCCATTTGAGGGGACCTGGGAATTATTAAGTGAACATAGAAACCTTGAATTCTGGAGTGTCCACCTGTGGATTCCCTGGGCCCTCTCCAGGACTTGTGGTTTTAGTTTGCAGCTTTGCTGGACTTCCCTGGCAGAAGGGGCTTTGGGGATCTTGGTGCCTCAGACCTTGTGATCCATTGGCACAGCAGCGGTGTGCAGGCCCCGATGAAGATAGTGCGTCAGTGGTTGTCAAAGGAAGTCTCTTGACTACCCAGGCCCACTGTGATGCTGGAATGGAGGGGTCCTGGGACAGTGTAGAGCAACTTCTGCGGGGAAGATGGCTGCCACAGTCACCCCTGGGACCACCTTTTTCCCTGCTTTGATGCAGTTCAGGGGCTCCTGGGAAAGCAGGCAGTGTAGGGACTCATGCTGTTGCCTAGGTTACCTCCAAGGGCACCTGCTGAGCATTGCCCTGTGGTTGAAGGCAGGCTGTTGGCCTTCAGGATCAGTGAGTGGCAAAGTCTGAGTGAAACTTGATGAGAAGCAGTAGAGGCTAGGCTGAAGCTAGGCCCTGGCATTTATATGGTGTGAGGAGGCCTAGAGCTGTGATCTTAGGAGTGTATAATAAAACTTGGAAAAACCACTATTTTACCAGGAAGAGGCTCACTGCTGGGGAACAGACTTCAAAGTAGGTGATCATAGGGGACTCAGGGGGAGGGCTGGCTGGGACTTTCCGGTCAAGACCTCACAGTG
pathogenic
336,215