Datasets:
wanglab
/
variant_effect_non_snv

Dataset card Data Studio Files
xet
Community
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
Assess the variant on chromosome 10, position 99847051, impacting ABCC2 (ATP binding cassette subfamily C member 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Dubin-Johnson_syndrome', 'Inborn_genetic_diseases']
CATTTTTCTTTTTTCTTTATTTTTATTTATTTATTTATTTATTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTTCTGACTCAGACTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGTCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATATTGACCAGGCTGGTCTTGAACTCCTGAACTCAGGTGATCTGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTAAACAAGGATTTTGTTTTTATCTATAATTTCCAATAATAATTATAACAACAGCTGCCAAGAGAGTCCATTTCAAACAGTGACTATAGTTCTCAGCAAACAATGATTTTTGGCATCTTTTTCTGACATCTGGGTACTTTTTTCCTCACCAAAACCAAAATCAGTTTAATATCTTAGAGATGGAGTAGCCAGTCACTGCCTCTTACCTCCTGTGACTGTGAATGCCCAGGCTAAATAACTTTTCCCCAAGAATTATTTGTGGAACTAATGTGTAAGGGAACTATATTCGCAGATTGGTGTGGTGGGCAGGACAGGAGCTGGAAAGTCATCCCTCACAAACTGCCTCTTCAGAATCTTAGAGGCTGCCGGTGGTCAGATTATCATTGATGGAGTAGATATTGCTTCCATTGGGCTCCACGACCTCCGAGAGAAGCTGACCATCATCCCCCAGGTGAGCTCTAGAACTTACTCGGGCACATGCCGTGGGGAGCAGCTTGTTTTACAGGAAACATATGCAGCTTCTTCTTGATGTCTGTTCAGTCAGCACTGTCAATTCCACGGTCTACTCGGGATACTTGAGCTAGTTCCCTAGGATGGACACGTCATTTCCAGAACTTTGAAATGTTTGGTAATATGCATTTGTGGCTGCCTGTATCTGACCACTAGGTGGCAGCAACACAACAGAAGTCAAGTACAGCAGACGATTCTTTAGCGTTGCTATAGCCCATCACGGTTTGCAAGACTTTTGCAATCAGCATTAGCAGTTTTGCCGCTGAAGCTTGAAGCCATTAAGCTTTATACTCCCCATTTGCTATGGTTAAAAGATAGAGGAGGGAATTTGCTGCAGGTTTCTGCCAGCAAGCGGAACGCTTCGTGCATCAGCAAGAAAGATTTCCCTTCGGCTTCCTCTCTGGATCCTGCCAGATAAGGACTGCCGCGAGGCCTCTCCGTTCCCCGCAGCGGCTCCTCAGGAGAACCTTTCCTCCTCCGCCCACTGCAGCCCAGTTCCTCTGGGGGTAGTTTTGGTCTGTCTGGTGTTTGCTCAGTTCGATAGTCTTTTCTCCAGCCTCTTCAAAAGCGTGACACCTTCTTCTCATGCAGCTGTACTATTCTTTCCTCTACCCTCCTCTGATCCCTCTACCTTGAAATCACGATTATGGGTTTGGGAGGCCGAGGCAGGTGAATCACTGGAGCCCAGGAGTTCAAGATCAGCCTAGGCAACATGGCAAGAACCCATCTCTACAAAAAATTTAAAAAATCAGCCAGGCATCGTGGTGCGTGCCTCTGGTCCCAGCTACTCGGGAGGCTGAGGTGGAAGCATCACTTGAGCTAAGGATGTCAAGGCTGCAGTGAGCGGTGTTTGTGCCACTGCACTCCAGTCTGGGCAACAGAGTGAAAGCCTCAAAAACAAAAAATAAACCGAGGACTTCTAACCCTGTGCCTAGCCCCTGGCTGGTAGCCACTCCGAGCCTTAGGAGGGAAAACCTTGCGGAAGCTCAACCACAAACCAGCTTCCTGCCTCAGGAATCCATCTCAGGCCAGTCCTATCCACCATCTCCCAGTCCTGAGGAACTCCGAGGTCCTTTTCTGGCATGAGCCCCAACAGCCCCCTTGTCCTTTCACTTGCAGGACCCCATCCTGTTCTCTGGAAGCCTGAGGATGAATCTCGACCCTTTCAACAACTACTCAGATGAGGAGATTTGGAAGGCCTTGGAGCTGGCTCACCTCAAGTCTTTTGTGGCCAGCCTGCAACTTGGGTTATCCCACGAAGTGACAGAGGCTGGTGGCAACCTGAGGTAATGTTCCATAGCCTGCTACCCCTGCAGGCAATGAGAGGATGTGAGGGGGCCACTCCTCGTGTTCCTCGTGTTAGGTGATGCCTGGCATAGAATTTTCATCCAGGTCTGATTCCTAAAGTGTAAAATGAACCTGTTGTAAAGTTCACAAGATAAAATAGATGTGAAAGTGCTTTAAAACTCTTGAAAACTGGTCGAGCACAGTGGCTCACGCCTGTGATCCCAGCACTCTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTAGCCTAGCATGGTTGTGGGCACCTGTAGTCCCAAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTAAAAAAAAAAAATCAACTCTTGAAAACCTTTGTTATTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCACTAAAAATACAAAAAATTAACTGGGTGTGGTGGCAGGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCATCTCAAAACAAACAAACAAACAAACAAAAAACCTTTGTTATTAAGTGTACTCCTCATATGACATTACACAATGTGAGCTTACACATCCCACAGAAAGCAGAGGCTCCCAGCTGTGCACAATCAGGATGAAAATAGTCTGGCTGCCTGGTCCAATCCTAGAGTCTGATTTAATTGTTTGAGGCTAGACTGGACATAGGGAGTTTTAAAGGATCCCCACGAGGCTGTTAAGGGCATCGCAGTTAAAGAACCACTGATCTAAAGAGCATGCGGATGACAGGGAACGTGACATCTGTAAAATCCGTAGGCACTGTTGAAACACCTGAAATCAACAAAAGACTCTCTTGGCTTTCACAGTTATTTTTAACCTTTCCAAAACATTTTTATATAATTGACAGTTCACTTCTGGCCTTCAGTGTATGTTTGCCTGTCCATTAATAAGTTGATCTGGCATTTTTCCTGTAACATTTTTGTTTTTCCTTCCACACACTGAAGTTCTGCCCTCAGCCAAAGCCCACTGCTCATGGACAGGTCTTGCTCCTGCCCCAGGGGCCTCAGTGGTGGTAGGCAGGGAATAGGCCGTTGGCAAGTTGAAGCTCAGGAAGGAAGGGAGGGCTCAGTAACTGATTCAGGGGCCAGCCACTCTGGCTTCACCTGGGAGCTTGTTACATGTGCAGAATCTCAGGGCGTAGACCTACTCATCAGAATCCGCACTTTAGCAAGATTCCCAGGTGATTTGTGTGCACATTACACTTGAGAAGCACTGCCTAGAGTGTTGTGATTAACTAGGCTGCAAGCTAAAATCACCCAGGAAGCTTTAAAGCTCCCAACGCCTAAACTGTAGCCCAGACCAACTGAATCGGGGACCCAGGTGATTTTAGTGTGTAGCCCCAGGGAACAAGCCCTGGTAGAGAACATCGTCAGTTTACTTTCCCTCCACAACAGATCTAGCAACTAGCAGGACTCAAGTAGGTCTTTAGGCCAGTGTAAAAGATCATTCAAACATTCAGTCAGCAAAAATGTAATAACACCGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCCGGATCACCTGAGGTCGGGAGCTCGAGACCAGCCTGACCAACGTGGAGACACCCCATCTCTACTAAACATACAAAATTAGTGGGGCATGGTGGCACAGGC
CATTTTTCTTTTTTCTTTATTTTTATTTATTTATTTATTTATTTTCAGATGGAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTTCTGACTCAGACTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGTCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATATTGACCAGGCTGGTCTTGAACTCCTGAACTCAGGTGATCTGCCTGCCTTGGCCTCCCGAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTGGCCTAAACAAGGATTTTGTTTTTATCTATAATTTCCAATAATAATTATAACAACAGCTGCCAAGAGAGTCCATTTCAAACAGTGACTATAGTTCTCAGCAAACAATGATTTTTGGCATCTTTTTCTGACATCTGGGTACTTTTTTCCTCACCAAAACCAAAATCAGTTTAATATCTTAGAGATGGAGTAGCCAGTCACTGCCTCTTACCTCCTGTGACTGTGAATGCCCAGGCTAAATAACTTTTCCCCAAGAATTATTTGTGGAACTAATGTGTAAGGGAACTATATTCGCAGATTGGTGTGGTGGGCAGGACAGGAGCTGGAAAGTCATCCCTCACAAACTGCCTCTTCAGAATCTTAGAGGCTGCCGGTGGTCAGATTATCATTGATGGAGTAGATATTGCTTCCATTGGGCTCCACGACCTCCGAGAGAAGCTGACCATCATCCCCCAGGTGAGCTCTAGAACTTACTCGGGCACATGCCGTGGGGAGCAGCTTGTTTTACAGGAAACATATGCAGCTTCTTCTTGATGTCTGTTCAGTCAGCACTGTCAATTCCACGGTCTACTCGGGATACTTGAGCTAGTTCCCTAGGATGGACACGTCATTTCCAGAACTTTGAAATGTTTGGTAATATGCATTTGTGGCTGCCTGTATCTGACCACTAGGTGGCAGCAACACAACAGAAGTCAAGTACAGCAGACGATTCTTTAGCGTTGCTATAGCCCATCACGGTTTGCAAGACTTTTGCAATCAGCATTAGCAGTTTTGCCGCTGAAGCTTGAAGCCATTAAGCTTTATACTCCCCATTTGCTATGGTTAAAAGATAGAGGAGGGAATTTGCTGCAGGTTTCTGCCAGCAAGCGGAACGCTTCGTGCATCAGCAAGAAAGATTTCCCTTCGGCTTCCTCTCTGGATCCTGCCAGATAAGGACTGCCGCGAGGCCTCTCCGTTCCCCGCAGCGGCTCCTCAGGAGAACCTTTCCTCCTCCGCCCACTGCAGCCCAGTTCCTCTGGGGGTAGTTTTGGTCTGTCTGGTGTTTGCTCAGTTCGATAGTCTTTTCTCCAGCCTCTTCAAAAGCGTGACACCTTCTTCTCATGCAGCTGTACTATTCTTTCCTCTACCCTCCTCTGATCCCTCTACCTTGAAATCACGATTATGGGTTTGGGAGGCCGAGGCAGGTGAATCACTGGAGCCCAGGAGTTCAAGATCAGCCTAGGCAACATGGCAAGAACCCATCTCTACAAAAAATTTAAAAAATCAGCCAGGCATCGTGGTGCGTGCCTCTGGTCCCAGCTACTCGGGAGGCTGAGGTGGAAGCATCACTTGAGCTAAGGATGTCAAGGCTGCAGTGAGCGGTGTTTGTGCCACTGCACTCCAGTCTGGGCAACAGAGTGAAAGCCTCAAAAACAAAAAATAAACCGAGGACTTCTAACCCTGTGCCTAGCCCCTGGCTGGTAGCCACTCCGAGCCTTAGGAGGGAAAACCTTGCGGAAGCTCAACCACAAACCAGCTTCCTGCCTCAGGAATCCATCTCAGGCCAGTCCTATCCACCATCTCCCAGTCCTGAGGAACTCCGAGGTCCTTTTCTGGCATGAGCCCCAACAGCCCCCTTGTCCTTTCACTTGCAGGACCCCATCCTGTTCTCTGGAAGCCTGAGGATGAATCTCGACCCTTTCAACAACTACTCAGATGAGGAGATTTGGAAGGCCTTGGAGCTGGCTCTCACCTCAAGTCTTTTGTGGCCAGCCTGCAACTTGGGTTATCCCACGAAGTGACAGAGGCTGGTGGCAACCTGAGGTAATGTTCCATAGCCTGCTACCCCTGCAGGCAATGAGAGGATGTGAGGGGGCCACTCCTCGTGTTCCTCGTGTTAGGTGATGCCTGGCATAGAATTTTCATCCAGGTCTGATTCCTAAAGTGTAAAATGAACCTGTTGTAAAGTTCACAAGATAAAATAGATGTGAAAGTGCTTTAAAACTCTTGAAAACTGGTCGAGCACAGTGGCTCACGCCTGTGATCCCAGCACTCTGGGAGGCTGAGGCAGGTAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAGTAGCCTAGCATGGTTGTGGGCACCTGTAGTCCCAAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTAAAAAAAAAAAATCAACTCTTGAAAACCTTTGTTATTGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCGTCTCACTAAAAATACAAAAAATTAACTGGGTGTGGTGGCAGGCGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGTAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGAGACAGAGCAAGACTCCATCTCAAAACAAACAAACAAACAAACAAAAAACCTTTGTTATTAAGTGTACTCCTCATATGACATTACACAATGTGAGCTTACACATCCCACAGAAAGCAGAGGCTCCCAGCTGTGCACAATCAGGATGAAAATAGTCTGGCTGCCTGGTCCAATCCTAGAGTCTGATTTAATTGTTTGAGGCTAGACTGGACATAGGGAGTTTTAAAGGATCCCCACGAGGCTGTTAAGGGCATCGCAGTTAAAGAACCACTGATCTAAAGAGCATGCGGATGACAGGGAACGTGACATCTGTAAAATCCGTAGGCACTGTTGAAACACCTGAAATCAACAAAAGACTCTCTTGGCTTTCACAGTTATTTTTAACCTTTCCAAAACATTTTTATATAATTGACAGTTCACTTCTGGCCTTCAGTGTATGTTTGCCTGTCCATTAATAAGTTGATCTGGCATTTTTCCTGTAACATTTTTGTTTTTCCTTCCACACACTGAAGTTCTGCCCTCAGCCAAAGCCCACTGCTCATGGACAGGTCTTGCTCCTGCCCCAGGGGCCTCAGTGGTGGTAGGCAGGGAATAGGCCGTTGGCAAGTTGAAGCTCAGGAAGGAAGGGAGGGCTCAGTAACTGATTCAGGGGCCAGCCACTCTGGCTTCACCTGGGAGCTTGTTACATGTGCAGAATCTCAGGGCGTAGACCTACTCATCAGAATCCGCACTTTAGCAAGATTCCCAGGTGATTTGTGTGCACATTACACTTGAGAAGCACTGCCTAGAGTGTTGTGATTAACTAGGCTGCAAGCTAAAATCACCCAGGAAGCTTTAAAGCTCCCAACGCCTAAACTGTAGCCCAGACCAACTGAATCGGGGACCCAGGTGATTTTAGTGTGTAGCCCCAGGGAACAAGCCCTGGTAGAGAACATCGTCAGTTTACTTTCCCTCCACAACAGATCTAGCAACTAGCAGGACTCAAGTAGGTCTTTAGGCCAGTGTAAAAGATCATTCAAACATTCAGTCAGCAAAAATGTAATAACACCGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGCCGGATCACCTGAGGTCGGGAGCTCGAGACCAGCCTGACCAACGTGGAGACACCCCATCTCTACTAAACATACAAAATTAGTGGGGCATGGTGGCACAG
pathogenic
166,834
Does the chromosome 10 mutation at position 100749770 within gene PAX2 (paired box 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Focal_segmental_glomerulosclerosis_7', 'Renal_coloboma_syndrome']
CAAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTG
CAAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGN
pathogenic
166,945
Variant in PAX2 (paired box 2), chromosome 10, position 100749771—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Congenital_anomaly_of_kidney_and_urinary_tract', 'Focal_segmental_glomerulosclerosis', 'Focal_segmental_glomerulosclerosis_7', 'Glomerular_sclerosis', 'PAX2-related_disorder', 'Renal_coloboma_syndrome', 'Steroid-resistant_nephrotic_syndrome']
AAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGT
AAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTG
pathogenic
166,946
Considering the variant on chromosome 10, location 100749771, involving gene PAX2 (paired box 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Focal_segmental_glomerulosclerosis_7', 'PAX2-related_disorder', 'Renal_coloboma_syndrome']
AAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGT
AAGCGCAGGAAAGCCGCGCCGAGGGCATCAGGCCTCCGCGGGTCTCGGCGAGCGGGCCGGAAAGCCTCGGTCCTTTTCGGGAGGAGTGGAACCGGGTCCACACGCCGTTTTCGCCCAGCCAGCCTGCCTCGCGGCCCGCTGCCACAGCTCTCGTTCTCCTTTTTTGCGGATTCCGCCGGGGGTCCGCCGAGTCCTGGCTGCCCGCGGGCAGCCACTTTGAAACCCAAAGGTTTCTGCACGGCCAAGCAGAGGTCGGAGGGAGAGAGCCGCAGCGCGGGCCCGCGGGCCGGTGGACTGGTGGGTGAGACACCGCAGCCCGAGTCGGTGCTGGCGGCCGTGGCGCATTCCAGGCCCGACTCAGCGCCGACTCGCTGCAGTCCCCCAGCCCTGGACTCCCGCCGTGTCCCCTTCCCATCCCCACCCCTTAGACTGGGGCTGAGGGGCCGGGCCCTGAGCCCGGGGAGGCTGAATTATTCATCTTTAATCTGCCCGCAGCTGCCGCCTTTTCATACCGGTAACGCGAGTTCTCCCGGGGCCTAAATTATTGATGGTCGGGGTTTGGAGGGAGGGGAGGGTGAGAAGTGGGGCTAGAGATAGGGAGATTAACGGGGTGGGCAAGGGGGTAAAAGAAGGGGCTTCAGTCTCTCCCAGCAACGCGATCAGAGGTCTTTCCCCAGGGTTTCACCGAGCTTGCTCTAGGTACCCCCCGAGAAAGGGAGGGGAGAGAAATGAGGGGGGCACAGATGTCCCCGCTTTCTCCGAAACTCGCGTGAGGCTAGCGGGGCAGGGGCTGCAGCTTGCCAGTCCGGGCCGACCCGACTCGGCCGCTAGAAGTCTCTGCGCTTGGATTGCTCAGTACCTGCGGCTACGGGTTGATCGCTCTGGGTGCAGGATTTCTAGACTGCTGTAGGCCAGGGAGAATGGGGCACAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTN
pathogenic
166,947
Considering the variant on chromosome 10, location 100750699, involving gene PAX2 (paired box 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Focal_segmental_glomerulosclerosis_7', 'Renal_coloboma_syndrome']
CAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGTTCATACCTTTGTTATTTTTTGCATTCTTCATAAGCTCATTATCAGGGCAACTAATAATTCACATGGTGCCTTATTCTGAAATTGGCATCACATATAAAGGATTTTTTAAATATTTTGCAAATGATATGGAATTATCCCAAATCATCCTGAAAACAGCAGGTAAAATTAGCTGGTAGAATGTACCTTGGCTAAAGAAGATTCCCTCTGCCACACTCGTGCTGTAATGTACTGCGAGGCGACCCCAGAAATTATCCCAGTGTGTGCCATCTGTATTAAAATGGTTATTCAGTTATGAACAGGGTAACATAATACTGATCAGCTAATTATACACCCTCCGAAAACCCTCCAGCTCCCTCGGCCTGGCTCAGCCAGGTATTGAAAGCATAGCGATTTGACATTCAGATACCTTCCAAAGGAGCTGGAGAAAGACGCTGGGTGGTTTGGGAGAGGAATAAGCCCTTTGCTTTAAAAGCCAGGAGAGGAGGCTGGGGCAGCTTTGGGCTGAGGCAAGAGTGGCACTTCGGGAGGGGAAGGGGACAAAGCATTGTTTTATGAGCCATGTAGAGACTCAGTCTCTTGGCTGATTGCTGGTCCTGGGCATGAGTTGGAACTGAGATCTCAAGAGAAGAACAGCCAAGGGCCAAGAGTGGCCCTGCTGTGTGCAGTGTTGCTGGGACTGGGTAGTGGTCTTCTGCAGAACATTTAAGAGAAATGCTTGTTGTCAGTAACAGAATTTTCAAGCCTTTGGAGAAACCCAAGTCATGTAGGATTTAGGTAATTTGTTTCTCTTGAATGGGGTAGAGGAGTGGCGCAACAAGTCAGGTGTGGTG
CAGGAAGCACCCTCAGGCCTGGCACCCAGTGGCCGCCTCGGTTCCGAGATCGGGAGCCCGCGCTGGAGCCGGGTTGGAAACCCCGTGCCCTTCTCTTGGCCGAAAGAGCAAAAGCCCGAGCCGCTCGGTTTCCTGGGGGGGCTGCCGAGGTCTGAGGGGTCAAAGGGACTCGAGTCGGGTTTGGGTCGGCTACACAGGGCGCCCCGAGAGTTATTAACTCGCCAGCGAGGCCTATGCCGTGCCACCTGGGCGAGACGGTGGGCCCCAACCAGGCTCTGCGAGGCGCGGCAGGCAGGCGAGCCCAAGCAGCCGGCATTCTCTGCCTGCTGCCTGGAGCCGCTCTGCCTCCCTGTCTCTGAGCGCAGCAGACCCCGGGCCCCTGCCTCATCCGCCTTCCTTGCTCTACTTCAGATACTAAGGAGGTGAAAGAGAGATACGGTCCCCCTACAGATAAATAACATTAGAAAAACTTCCCATCAAAAACAAACAACACAGGAAAGAGGTAGAAAAATTCCGATTACAATTTAATACTTTTTAAAGAAGAGGCAGAGAGCAAAGGGGGGTGTGTGTGTCAGGCACTTATCCCCTGTCTGTGCTAGGAGCTCGGATAAACAGTCAGCCGAGCCTCGACGCCCCCAAATCGTCCGCCTCCAAGCCCCGCACGCGCGGACAGCTCCCGGGTTGCCTGCGGCGCAGGCGGGATGCTGCTTCGCACTAGTCCAGTCCTCTGCCAGGCCCTTCCTCTCCTCGCTTTCTTACGCCCTTTCCGCTGGCATGAATTCCCCTTTGGCATTTTCTCCCCTCTCCCCTCTTTTCTGTCATCTGGTTTCTCTCCAGTCCCCCCTTTGCTTTCTACCTTGCGTCGCAAGGCCTGAGTCGCCCTCTCGCCCAGCCCCCAGTCTTCAGCCCAGCGTCTGTGCTTCCAGTCCCCACTCCTCCGCGTGGTCGTGGAGGTCCACCACCTTTCTTCTCAAGCTCGGGAACATGCCCTTCCGCCCTGCCTGCTTCCTTCGCCCGTCCCGGGCCGCGGACCCTGACTAATGGCCGGTCCCTGCTGTGTGTGGGGTGTTGTGTTTTTTTCTTGTCTCTCCCCAGCAGGGCACGGGGGTGTGAACCAGCTCGGGGGGGTGTTTGTGAACGGCCGGCCCCTACCCGACGTGGTGAGGCAGCGCATCGTGGAGCTGGCCCACCAGGGTGTGCGGCCCTGTGACATCTCCCGGCAGCTGCGGGTCAGCCACGGCTGTGTCAGCAAAATCCTGGGCAGGTGAGGGCTTCGCAGCTGTCCCGGGAGACGCCTTGCCTACTTCCCCGGCCAGCCCTGGGTCTCCAGCTGGAGGACGTGGCTAAAAGTCCAGCGTGCCAAGCCAGAGAGGGAGATCCCCAAAGGGGTCTGGAGAGGTGCTCCTTTTGGAGAGAGTGTTCAGATGGTGGCTGAAGACCCAGGAGCGAGGGTGGCGCAGTGTCACCCAGTGCTTGCCCTGCCCCTGGTCCCTGGTGAGAAGGCAGCCCGTTTCTGGCTTCAGAAAGGGAAGGATGACTTTCCTAATGGAGTTAAGGCAGATACGGGGTGGGAGACATTAGAGGAATGGGGGGGGAGTGAAAATGGGTCCCCGAGAGGAGAAGCAGCAGCATTTGGGAGGCAGAAGGAGGGTCCTGGTTCCCACAGATGCTCTGTGCCCAGTAGGAAAGGGCTCGAGGTGGTGCCTCAACCCTGGCCTCCCAGAGACCTTGCAGCGCTGTTCGTTTTGCTCTTCCCAAGTGAAAGGCTGGGCTTTCACTCCCACGGGTGCCTATTTGGGCTGGTGCGAACCCAGCCCCTGGTGTGGCCGTCTCCCTGGAGGGATGGTACCCCTTGTCCTCCTACTCCGCGGCGCTCCTCCTAGCCAGGCACCCTCAGGAAGTCAGCTCAGCCACACTGGGCCTTTTCCCTCCACTCCGCTGCCTCGGCCGGGCAGGAGAGTGGCTCAGCAGCTCTGGAACCTGCAGCCCCCCTGCCCCGCCACAGTCCGCTTCTGGCTGACCCCGCCGGCTTTCCCGGCGCAGGTACTACGAGACCGAGACCGGCAGCATCAAGCCGGGTGTGATCGGTGGCTCCAAGCCCAAAGTGGCGACGCCCAAAGTGGTGGACAAGATTGCTGAATACAAACGACAGAACCCGACTATGTTCGCCTGGGAGATTCGAGACCGGCTCCTGGCCGAGGGCATCTGTGACAATGACACAGTGCCCAGCGTCTCTTCCATCAACAGGTGAGCAAGCCACCCGGGTTTTCAGGGCTGGACTCCAGCTCCTGGCTCCTGCCTGCAGGGGTGTCCCACGCCCAGTCTCTGCTCTTTGTCCAGCCTCTGCCCTTTCTCCCTGCTTCCAGCCCCAAATCCTTCTGTCAGAGAAAGGGAACCTGTGAGGCAGAGAGTTAGACAGACAGACAGGGCTGTCTGCAGTTCAGGGCTGGGTATTCCCTGCCAGGCTTCTCCCGCCGGCGTCCTGGAAATGAATCCAAGTGTTTGTGGTAATTAAGACTCCAAGATTACGAGCATCCAGCCTTGGGATCTTGAGACAATCACAGCCTGCAGCCGGAGCCTTTAAAATGACCAGTGTCTATTCATCCCTCCAAACAGACTGGCCTTTCTAAAGGCTGCTCCTTCCCCAGGGGCCGCCGCTTGTCCTGGCTCCCTCACCCTCCCTGCCAACTCCCACAAAGCTCACCTCCCAGGAGTCTGGTCTTGCTAGCCAGCTCCACACAAATTTCTGGCCTGTAGGCACTGGGATCCGGGCTTGCAGAACAAATGCCAACCACCAGCCAGCAACTGGCAGGGAGTAGAGGAGCTGGACAAGGAGGGAGTGCCAAGCAGGGAGGGAGAACTCCAGACTTTGAGACTGAACCTTGGGTGATACCCTCAACCACCTAAGGTGCCTGTCTCCAGGCTGAAGTCTTTGCACTGATGACAGGCTCACACACGTGAGGACAGCACAGGGCTGAGTCAGCTTGACGTGTAGGATATTTAGGTCTCCTGGTCTCCAAACCCCTCCAGTGTGCTCTCGGGGAGAACACATGTGCACACTCCATGCATGTCCACCCTAGCCAGTGTGCCAATATGCCTATCTGTGGTAGCTACAGAACATACAAGCAGCACTGGGCTCAGGAACCCAGGCTGGTTTCAAGATCACAGAACTGTACAAACTGACAGTTGTTCACAGAGTCCCTGCACAAGTCACACACCAGCCTTGGCCCCCCATTTTGAGACACCCCAAAATGAAAAGAGGGCTAAGCAGTTCATACCTTTGTTATTTTTTGCATTCTTCATAAGCTCATTATCAGGGCAACTAATAATTCACATGGTGCCTTATTCTGAAATTGGCATCACATATAAAGGATTTTTTAAATATTTTGCAAATGATATGGAATTATCCCAAATCATCCTGAAAACAGCAGGTAAAATTAGCTGGTAGAATGTACCTTGGCTAAAGAAGATTCCCTCTGCCACACTCGTGCTGTAATGTACTGCGAGGCGACCCCAGAAATTATCCCAGTGTGTGCCATCTGTATTAAAATGGTTATTCAGTTATGAACAGGGTAACATAATACTGATCAGCTAATTATACACCCTCCGAAAACCCTCCAGCTCCCTCGGCCTGGCTCAGCCAGGTATTGAAAGCATAGCGATTTGACATTCAGATACCTTCCAAAGGAGCTGGAGAAAGACGCTGGGTGGTTTGGGAGAGGAATAAGCCCTTTGCTTTAAAAGCCAGGAGAGGAGGCTGGGGCAGCTTTGGGCTGAGGCAAGAGTGGCACTTCGGGAGGGGAAGGGGACAAAGCATTGTTTTATGAGCCATGTAGAGACTCAGTCTCTTGGCTGATTGCTGGTCCTGGGCATGAGTTGGAACTGAGATCTCAAGAGAAGAACAGCCAAGGGCCAAGAGTGGCCCTGCTGTGTGCAGTGTTGCTGGGACTGGGTAGTGGTCTTCTGCAGAACATTTAAGAGAAATGCTTGTTGTCAGTAACAGAATTTTCAAGCCTTTGGAGAAACCCAAGTCATGTAGGATTTAGGTAATTTGTTTCTCTTGAATGGGGTAGAGGAGTGGCGCAACAAGTCAGGT
pathogenic
166,954
The mutation in gene PAX2 (paired box 2) at chromosome 10, position 100779569—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Focal_segmental_glomerulosclerosis_7', 'Renal_coloboma_syndrome']
AATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACTTTGGAGGTGGTTGTGCGAATTAACAGTAATATATATGTCATATAAATTGTGTATAATATTGGCACATAGTAGATGTTCAGTAAGTGGAAAATGGTGATGGTTCTCATCACATCCAAGTTTTCATTCTTGTTTCCTCTTAGTCCCTTGCCTGTCTCCACTCATTCTGGCTGACCACTCTGGGCATTAACCCAGAAGGCAGCAGGCTCGCGTGGCTTCCGCTTCCACCAGCTTGTGATGCCCTCCCCTCTACTTCTTTGTTCATCTTAGGATCAAGTTATTTTTTACTGGGGAAAGAGACAGTGGAGATCCTGTAGTCCAACCCCTTCATTTAAAGCTGAAGAAACTGAGGCCCAGAGAAGTTGAGAGGTGAGACCAAGGCTATGTGGCTTCTTAAATGCAAAATCAGAAGCAGGACTCAGGGCCCCTGCCATGCAGCCCAGTGTCCTTTCCGCCATCCTCTGTGCCTCTGATTTCAGCCCTACTTGGCTTTGAAGATCTACATCAATTTCCCTCTGTTCAGCGACTTCTTCCGCAGTTCCCTCTCCTGCAAGGGGAATGGTTCCTCTCCTCCAAGTTTCCAGCACTAACTACCTGATTCCCTCGGGTAACTGAGCTTTTTTGGGGATTAAGTCTCCCCTCCCCACCTTCATATCCAGCACTGTGAGCTAGGGGCCTTATCCCAACTGCCTGCAAGTGTTCAGGAAAAGCTTTTAGAGCTGACTTGCTCATGGCTTGTGACTCACCTGGCTGGTTGAGGTGAGCTTGGCTCACATGCCTCTCTGTGGGGACAAGGAACGCTATCAGAAAAGTGGCTTCCAAAGGCCCCTCATTTGACCAGTGGGTAGGGGGAGCATTCCTCCGTCTTGGCCCTGGGACTGGTCTTTGGCATCATTGAGCCCTCGGTTTTTCAGATCCCTGAAAAGCAGGCTCCTGGAATGTTTGATTTGGCCCCTTCTCCCCAGGATGTACAGGGAGGGCACCAGACCTTTCAACCAGGCTGGCAAAGACGCTGCAATCCAAGTAAGAACCTCAGAAAAGGAGGCCAGCAAACCAGCCAGCCATATAGGAACAGGGCTCTGACTTGTTTGAGGGCAGTAAGTGGGCTCAAGAAGAGATTGTTCAGCCTGACATCTGGCAAAGGGACTGTGTGCTGTGTTGGAGTCCTGGGGACAAAAGAAAGGGTCACCTGTGACCCAGCCCCTCCCTGGCTACTTCTCATTCTTTCAGGATATGGGGAAATCTCATCCTCTCAACTCTGAAGGACTGTGACACAGTCCCAAGTAGGAAAGCCAGCTCCAAAATGATCTCAAAACCCAGGAGGTCCTGGTACCAGGAAGAGATGCGTGTGTGGTTGAGGAGAGAAAGGTGGACAACAAGCCACTAGGGCAGTCCTCACCCTGCAGAAAAAGAAAGGATGCTGTGCTCACTGGGTCTCTGCCCTGATCTTTGCTACCAAAAATCAAACAATAATTTGGGTGATGCACATAGCAGGACATAAGGCAGGCTGCATTCACCCAGAGCTGCATTACGTTGGATCTGCGGAGCCAACAGAAGGAAAACCCTGTGCCTTGCAGCAGTCAGTGAGGGCAGGGACACAGGGAGCAGATGGATGAGGAAATCGCTGAGGAACTTGGGAGAGAGCCCCTTTGCAGGGCTGGGCTGGAATTGGCCGGGATAGGAGTGGGCATTTGATGTGTGATGCTGTTGTGACGCTGTTGCAGAATCATCCGGACCAAAGTTCAGCAGCCTTTCCACCCAACGCCGGATGGGGCTGGGACAGGAGTGACCGCCCCTGGCCACACCATTGGTAAGAGGGCTCAGGGAAGGGGAGGAAACCAGATCCCACCTAGAGAAAGGCAGGAAACGCAGCTCCACCCCTGGGAACTGCCTGCCCGCTTGAGGTCCAGAGCCCAACCTATTTGCCAACTCCTCTCACCTGAGCTCCTGTCCACATAGGGTCTTCCTGAGAGATACTGGTTCTCTAGGACTGTTCTCTGCCTCCCACTTGTGTCACCTCCCTCTGCCCTGCTTTAGTCAGTCCCTATCCTCTCCCCTCCTCTCCTCTCTCTTAAGTGTTTTTCTTCTAGCATTTCTTCTTCTTTTTCTTCTTCTCCTCCTCCTGCTTCCCTCTCCCTCATTCTCCAACATCTTTTGTTTTTATCTGATTCTGTCTCCCTACCTGTGCCCTCTTTCTTTTATATCAACTTTCTTATTCCATCTTTGTTTAACATTCCATCTTGTTCTTAACATTGTCCTCTGTCTTCTCCCCTTGGCTCCTCTTCTTTTCTCCCTCTGCCCTTCCCTCTCTTCTCTCTTCTTCTTAGGTGTAGCTCTGGCTCTGTTCTGTCTTCCTCCTTCCTCATGGCCTCTTTCCTCTTGGCCTTTCTCTCTTGATTGCTCAGCCTCTGTCTCACCCACTCTGTATCTCTCATCCTTTCTCCATCCTCCTCATTCTTTGAGCCATGCTTAGGGCCTCTCAAAGACGTGACCCAGGCCTACTAGAACACCTGCTAACACTCCTCCTCTGTCCCCAACGCACACAGACTAGCTTCCCTCTGGCCCAAGGAGAAACTTGGTGCTACTGTAGCCATAGATGAGGCCCGGGGTTTGAGGGGCTGGGATGTGGTTACATTTTTCCTGCTGCTCCTCTTGGCAGTTGTCTCCTTCTGTCTTGACCAGCAGGTAATAGAAATGACTAGTTCCAGCCCTCCAGGAGTTGGCAGGAGCTGTTGTTTACTAGGCCAGTGTTACAGTGTGTGCTGGGAGGGAGGGTTGGGCCAGGCTGTACCTGAGTTGATCACCATAGAGCGAATGGGTTCACTAATCTTGCCCTAAGGGGGAAATTAGGAGTTTCTCAAGTGATTTCAAGACCAAAAGCAGCTGAGAGAGAGAAATGCACACTCCTGGGGAACATCAGGACCAGTCTTGTGTCTCCTGGAGAATCAGAGACAGATCTTAGAAAGCCACAGACTCTAAATCAGGATTGGTAAAGACTCAGCCCAGGAGACTGAGAACAATGAGCTGGGGCTTCATTAGAAGGGTTTGCCCAGCCCCAGGGATTGGATGAGCTGTGCAAGGGGGTATCCAAGGAGCTGTGCTCTCTAGAGGACCATGGAGGTGCTGCCTAGAAGGAGACAGGTTTGCTGTTTCCTGGGCCTGTACTCCATCCGTCTTTAGGAGAGTGAGTTTGAGAACCCCAGTGAAATCCACAGGTCTGCAGAGAAGGCCTGGGGTTAAACTGGGCACCACTTACCTCAGGGCTGGACAGAAGTGAATAATAGCCTGTATATGGCAATGCAGTCCCCTCTTAAATAGACCCCAGAGGAAGTAGAGGAATGAGAGGAACGTGGGCTCCTCATCCCTCCTTATGTCCTCTGCTTCTCTCTGCCCCCCAGCCTTGGGGCTTTGGCCTACGATCACAACTGCTAAACTGCTATCCTGATGCCATTTCCTCCTTCCTCTCATCCAGTTCCCAGCACGGCCTCCCCTCCTGTTTCCAGCGCCTCCAATGACCCAGTGGGATCCTACTCCATCAATGGGATCCTGGGGATTCCTCGCTCCAATGGTGAGAAGAGGAAACGTGATGAAGGTAGGGAGGAGGGAAGAGGTGTGGCTTCCCCTTCACATGCTTTGTCCTTGGACTCCAAGCTCCGGTTTCGGCCTGGCCTCGCAGCTGCTCTGCTGTGAGATCAATTTTAGTAGCAAAGCCCAGGTCCCCCCACTGCCCTGCTGGCTCCTGGAGAGAGGGAGGGTGGCTGCTAGTGGGGCCATCAGCTTCACCATCTGCTCAGCAGCCCCGGCTGCCTCACCTGCCACTAGGGCTCACCCTATCGATCCCTG
AATAGCTAAGATTACAGGTATCTGCCACCATGCCTGGCTAATTTTTGTACTTTTAGTAGAGTCGAGATTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGTAGTGTGATCTTGAGTGAGCTACTTAAACTTGTCTCAGCTTTGGTTTTCAATTTGCAAAATGAGGATAATAGTCTCTACTTTGGAGGTGGTTGTGCGAATTAACAGTAATATATATGTCATATAAATTGTGTATAATATTGGCACATAGTAGATGTTCAGTAAGTGGAAAATGGTGATGGTTCTCATCACATCCAAGTTTTCATTCTTGTTTCCTCTTAGTCCCTTGCCTGTCTCCACTCATTCTGGCTGACCACTCTGGGCATTAACCCAGAAGGCAGCAGGCTCGCGTGGCTTCCGCTTCCACCAGCTTGTGATGCCCTCCCCTCTACTTCTTTGTTCATCTTAGGATCAAGTTATTTTTTACTGGGGAAAGAGACAGTGGAGATCCTGTAGTCCAACCCCTTCATTTAAAGCTGAAGAAACTGAGGCCCAGAGAAGTTGAGAGGTGAGACCAAGGCTATGTGGCTTCTTAAATGCAAAATCAGAAGCAGGACTCAGGGCCCCTGCCATGCAGCCCAGTGTCCTTTCCGCCATCCTCTGTGCCTCTGATTTCAGCCCTACTTGGCTTTGAAGATCTACATCAATTTCCCTCTGTTCAGCGACTTCTTCCGCAGTTCCCTCTCCTGCAAGGGGAATGGTTCCTCTCCTCCAAGTTTCCAGCACTAACTACCTGATTCCCTCGGGTAACTGAGCTTTTTTGGGGATTAAGTCTCCCCTCCCCACCTTCATATCCAGCACTGTGAGCTAGGGGCCTTATCCCAACTGCCTGCAAGTGTTCAGGAAAAGCTTTTAGAGCTGACTTGCTCATGGCTTGTGACTCACCTGGCTGGTTGAGGTGAGCTTGGCTCACATGCCTCTCTGTGGGGACAAGGAACGCTATCAGAAAAGTGGCTTCCAAAGGCCCCTCATTTGACCAGTGGGTAGGGGGAGCATTCCTCCGTCTTGGCCCTGGGACTGGTCTTTGGCATCATTGAGCCCTCGGTTTTTCAGATCCCTGAAAAGCAGGCTCCTGGAATGTTTGATTTGGCCCCTTCTCCCCAGGATGTACAGGGAGGGCACCAGACCTTTCAACCAGGCTGGCAAAGACGCTGCAATCCAAGTAAGAACCTCAGAAAAGGAGGCCAGCAAACCAGCCAGCCATATAGGAACAGGGCTCTGACTTGTTTGAGGGCAGTAAGTGGGCTCAAGAAGAGATTGTTCAGCCTGACATCTGGCAAAGGGACTGTGTGCTGTGTTGGAGTCCTGGGGACAAAAGAAAGGGTCACCTGTGACCCAGCCCCTCCCTGGCTACTTCTCATTCTTTCAGGATATGGGGAAATCTCATCCTCTCAACTCTGAAGGACTGTGACACAGTCCCAAGTAGGAAAGCCAGCTCCAAAATGATCTCAAAACCCAGGAGGTCCTGGTACCAGGAAGAGATGCGTGTGTGGTTGAGGAGAGAAAGGTGGACAACAAGCCACTAGGGCAGTCCTCACCCTGCAGAAAAAGAAAGGATGCTGTGCTCACTGGGTCTCTGCCCTGATCTTTGCTACCAAAAATCAAACAATAATTTGGGTGATGCACATAGCAGGACATAAGGCAGGCTGCATTCACCCAGAGCTGCATTACGTTGGATCTGCGGAGCCAACAGAAGGAAAACCCTGTGCCTTGCAGCAGTCAGTGAGGGCAGGGACACAGGGAGCAGATGGATGAGGAAATCGCTGAGGAACTTGGGAGAGAGCCCCTTTGCAGGGCTGGGCTGGAATTGGCCGGGATAGGAGTGGGCATTTGATGTGTGATGCTGTTGTGACGCTGTTGCAGAATCATCCGGACCAAAGTTCAGCAGCCTTTCCACCCAACGCCGGATGGGGCTGGGACAGGAGTGACCGCCCCGGCCACACCATTGGTAAGAGGGCTCAGGGAAGGGGAGGAAACCAGATCCCACCTAGAGAAAGGCAGGAAACGCAGCTCCACCCCTGGGAACTGCCTGCCCGCTTGAGGTCCAGAGCCCAACCTATTTGCCAACTCCTCTCACCTGAGCTCCTGTCCACATAGGGTCTTCCTGAGAGATACTGGTTCTCTAGGACTGTTCTCTGCCTCCCACTTGTGTCACCTCCCTCTGCCCTGCTTTAGTCAGTCCCTATCCTCTCCCCTCCTCTCCTCTCTCTTAAGTGTTTTTCTTCTAGCATTTCTTCTTCTTTTTCTTCTTCTCCTCCTCCTGCTTCCCTCTCCCTCATTCTCCAACATCTTTTGTTTTTATCTGATTCTGTCTCCCTACCTGTGCCCTCTTTCTTTTATATCAACTTTCTTATTCCATCTTTGTTTAACATTCCATCTTGTTCTTAACATTGTCCTCTGTCTTCTCCCCTTGGCTCCTCTTCTTTTCTCCCTCTGCCCTTCCCTCTCTTCTCTCTTCTTCTTAGGTGTAGCTCTGGCTCTGTTCTGTCTTCCTCCTTCCTCATGGCCTCTTTCCTCTTGGCCTTTCTCTCTTGATTGCTCAGCCTCTGTCTCACCCACTCTGTATCTCTCATCCTTTCTCCATCCTCCTCATTCTTTGAGCCATGCTTAGGGCCTCTCAAAGACGTGACCCAGGCCTACTAGAACACCTGCTAACACTCCTCCTCTGTCCCCAACGCACACAGACTAGCTTCCCTCTGGCCCAAGGAGAAACTTGGTGCTACTGTAGCCATAGATGAGGCCCGGGGTTTGAGGGGCTGGGATGTGGTTACATTTTTCCTGCTGCTCCTCTTGGCAGTTGTCTCCTTCTGTCTTGACCAGCAGGTAATAGAAATGACTAGTTCCAGCCCTCCAGGAGTTGGCAGGAGCTGTTGTTTACTAGGCCAGTGTTACAGTGTGTGCTGGGAGGGAGGGTTGGGCCAGGCTGTACCTGAGTTGATCACCATAGAGCGAATGGGTTCACTAATCTTGCCCTAAGGGGGAAATTAGGAGTTTCTCAAGTGATTTCAAGACCAAAAGCAGCTGAGAGAGAGAAATGCACACTCCTGGGGAACATCAGGACCAGTCTTGTGTCTCCTGGAGAATCAGAGACAGATCTTAGAAAGCCACAGACTCTAAATCAGGATTGGTAAAGACTCAGCCCAGGAGACTGAGAACAATGAGCTGGGGCTTCATTAGAAGGGTTTGCCCAGCCCCAGGGATTGGATGAGCTGTGCAAGGGGGTATCCAAGGAGCTGTGCTCTCTAGAGGACCATGGAGGTGCTGCCTAGAAGGAGACAGGTTTGCTGTTTCCTGGGCCTGTACTCCATCCGTCTTTAGGAGAGTGAGTTTGAGAACCCCAGTGAAATCCACAGGTCTGCAGAGAAGGCCTGGGGTTAAACTGGGCACCACTTACCTCAGGGCTGGACAGAAGTGAATAATAGCCTGTATATGGCAATGCAGTCCCCTCTTAAATAGACCCCAGAGGAAGTAGAGGAATGAGAGGAACGTGGGCTCCTCATCCCTCCTTATGTCCTCTGCTTCTCTCTGCCCCCCAGCCTTGGGGCTTTGGCCTACGATCACAACTGCTAAACTGCTATCCTGATGCCATTTCCTCCTTCCTCTCATCCAGTTCCCAGCACGGCCTCCCCTCCTGTTTCCAGCGCCTCCAATGACCCAGTGGGATCCTACTCCATCAATGGGATCCTGGGGATTCCTCGCTCCAATGGTGAGAAGAGGAAACGTGATGAAGGTAGGGAGGAGGGAAGAGGTGTGGCTTCCCCTTCACATGCTTTGTCCTTGGACTCCAAGCTCCGGTTTCGGCCTGGCCTCGCAGCTGCTCTGCTGTGAGATCAATTTTAGTAGCAAAGCCCAGGTCCCCCCACTGCCCTGCTGGCTCCTGGAGAGAGGGAGGGTGGCTGCTAGTGGGGCCATCAGCTTCACCATCTGCTCAGCAGCCCCGGCTGCCTCACCTGCCACTAGGGCTCACCCTATCGATCCCTGN
pathogenic
166,968
Variant at chromosome 10, position 100806603, gene PAX2 (paired box 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Focal_segmental_glomerulosclerosis_7', 'Renal_coloboma_syndrome']
GAAATGAGGATGATGGCACATCCTGAAAAAAGAAGTAGGCACAGGAGAAACGGGGCATGTGGCCTCACAGTCCTCATGCAATCACACACAGACACACACATTCTTTCAGGAAGCTTCTCATTCTATTTCCACACACGCAGACCCTTGTTTATCTGGACGTTTATATATGTACAAGCGCGTAGACACGCAATACTCACACAAAAGGGAAAAATAAATTTACCACACTTCAACTTTCAACTCATATGTTGATGCATACATCCCGTAAGACTGAAATGATTCCAGAGCCTTATGCAGAAGAAACCACAACCACCAAGTTTTGTGTTCATGGGAACAAATACCATTGAAGCTGCTTCTGTCTGTCTTCTTCAGATGTGGTCCTGGTCTTGATCTCTGTCTCTCTCTCCCTCTCTTTCTCTCTCTCCTTCTCTCTCTCTCTCTCTCTCCTTCTCTCTCTCTCTCTCTCTCACATACACACACACACACACACACACACACACACACACACACACACACACACACACTTTCTTTGCTTTCCCACCCCCTCCAGAATAGATATGGAGGGAAGATGGGAGGTCACATTAGGAAAGCAAACCCCATGCTCGGTCTGGGAGGCCAGCAAGGGAGGATGGCTGCAGGTTGAGTTAATCAATATGTAATATTTTCTATGGTCTCCTGAATGATACTGTATGGTGTTACTGTATATAATGCAATATTGATTATATCATATCGTATAATCACCTATAAACTGATATATATAACATTCCCAGAGGAACACCCTGGGGCCTCCGGCATGGGCTGGCCCCAGGCCCAAGGCTCCTCAGCTGGTCTTGGGCTGAGGGAAGCCTGGAGTGACCAAGCTGGTATGGGGTTTGGGGGGGAAACCCCACTTTGGGGGGCTGCAAGGTGTGGGTTCAGAGAGAGGCCACAGAGCAGGCACATTGCCTACTGTACACCTTGAAAACTCCAAGGAACCGACGCTGGGAGGCAAGGATAGGGGAGGGCTGAGAACGCCTGAGGAAAGGGGACATGGAGACAGGATTGGCCTGTAGACTCAGGGGAGCAGGCACCGGTGTGATAAGACTCTGCTCCCTCTGGAGACTTGCAGGAGGAACCAGGTGACCAAGAAACTGGCTCCTGTAGGAGGCTTGAGCCTGGGTCTAGGTTGGAGACAGAGGCCGAGAAGGCGGCCAGGGCATAGAGGCATCCACAGGGGCCCTTCTGTGGGCTCTGCCCAAGCGGGAGCTTTGCTGCTCTAGCGACACCTCTTTCCTCCCGCTTGGTTTCCCTCTGGCCTCAGTCCTGGCCCAACCCAAGCAGAGTGCCTCAGCTCTGCCTCAGAGCCCCTCCTCCCTCAGGGCGAAGTTGATTACTTCACCCAGTCTCCAGGTTACACTCGGCCTCGGAAATTTGATGGTTTTCAACCCTTGGAATTAGTGGAACTGAAATTCATCTCGGAGCCGAGTTCAATTCTCCACAGGCTCAGTAATGCCAGTCTGAGACACCCAGCTTCTTTCTTCCCCAGGCTGGCCCTGGCTTGGGGGCAGGGGGTGGTTCAGGGAGACATGCCCCAGGGAGCTGGCTCCTGGGAGCCCCCTGGCTCCACCTCTGCCTAATCCTTCCTGACCCCACAGTGTGACCGCTCCATCTCTTACCAGGTCCTCAGGTCCTTCTCTTCCTTGGGCTTCCTCAGCCAGATCTCTGAGGCAGGGCCACCCTCTGGTGTCAGCCCCACTGGCCCAGGGGCTGAGAGTAAGGGGTCCCATAGGGGTGCAGAGCTCCTGGGCCCGGAACCAGATGCCCACCTCTTTGCCCTGCACTGTTCCTGTGCCTCTGCTGGCCTGGCGCTAACGCCCCGAGTGTCCATGTGTTCTCCAGATGTGTCTGAGGGCTCAGTCCCCAATGGAGATTCCCAGAGTGGTGTGGACAGTTTGCGGAAGCACTTGCGAGCTGACACCTTCACCCAGCAGCAGCTGGAAGCTTTGGATCGGGTCTTTGAGCGTCCTTCCTACCCTGACGTCTTCCAGGCATCAGAGCACATCAAATCAGAACAGGTGAGGAGGGAGCTTTCTGCTTGCAGAAGTAGAAAGGAGCCGGCAGAGCAAGGCCTCTCAAAAACTTGTTCACTAAACACCACATGCATAGCCAGCATTGTATGTGTTACACACGTGTGTTCTGTGTGTGTGCAGTGTGAACAGGCTCACATGAGACAGTATGGTATCGTTAAGACAAATCATTATGGTCTGTATATGGTAATTAGAAATGAGTTCTGGGTGCAAGAGTATGGCCTTGGGTAAATCATCTCTGTTCAGAGCCTCGGTTTCCCCATCTATAGAATGAAGGGCTTGGATGTAGGGTTTGTCAAGTCCCTTCTAGCTCCGCTTTTCTGTGGTTCTTGCATGGAGTACTCAGGAACATCCTCTTGCTGTGTCCCTTGCCCACACCCCCTCAGGGTCCTACAGAAAGTCTACGCTAGACTGGGGAGCTCTCCTTGCCCAGTGTCAGGAGAGCCTGCCTGTGCCTGCCTCCTGCTCCCCAAGCCAGCAATTCAATGGAACCCTAGGTAGGCTGGCAGCTTCCCACTTACACCCAACACTTTCTGCAGACACTGAGCAGCCCAGGACACATAGCATGGGGCACAGCATGTAACACACCAGCAAAACGCACAACGCAGAAACCATCTCCGAACTTTTCTATGTGCTGGTGTGCATGTGCTCACACTCCACCATCCACCTGCTCCCCTCACCCACAGCCCATGGTACTGTGCTCACACACCACTGTCCACCTGCTCCCCCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGCTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGTTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACTGTCCACCTGCTCCCCCGACCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGCTCCCTCACCCACAGCCCACGGTACTCACAGCTAGCCCCGGCAGCCGCATGGAGCCAGTGGGTGTGTGCTGCCCCCAGATCACCAGCTCAGCATACCCCTAGCATATGCCTCCACCCACATACGCTGGGTGGAGCCCCCAGCACACCCGCTCCCACACAGGGGCACACTCCCATCCCTGCTACACATGCAGCCCAGGCCAGGCCCACAGTCACAGCACAAGACAGCATTGCTGTGCTTGCATGCATGCACACACGCACCCACACATGCACGTCAGTGCAGCCCCACAGCGTTGAACGCTGTAGTTCCACTCTTAAGACTCCAACAGCTCCCAGCCACTCGCCTTTCTCCCCGCCCGTCCTTTTATCCCATAAGCTGTTTGTCTTCATAAAACAAAAATCAAAAGTCTTTTTAAGGTGCCCTGAGCCATAAACCAACAAAGGAGGAGCTGGCCGAGGCGGGCGGCTCAGTGCACCCTCCCTGAGTCCCCGCCTGTATTACAATGAATAACCTTTATTTACTTTCATTAGACTATTAAACACCAGCACAGTCATTTTTCCCCCTGAAACTCGGAGCAGGGCCCATAAAGCAAATCCGAAGCCTAATTGAGTTCATTTTAATTTCTCTCCGATCACAGCGAATTACTCTGGTGATAAATCAGGGGGCAGCTTCACCCCCAGTAGAAGGCCTAATTTGCAGCTAATTACAAAACTGATTTCTACAGGAAGATCAATACGAGAAGGAATTGGAAATGACGAGGCAATCCCGTCCAGCCATGGAGGGGAGGGGGTACTCTAGGGGGGCCAGGAAGCGGAAGGGAAAAAAACAGACCCGAAAGAGCAGGAAATCAGTTTTAATTTAACGTAATATTAATCAGAGCAACTTTTCCTGCTTTGTGCAGGCTCCCGGTCTGCCCAGCTCTGGGGTCTGGCTTGGCCGTGGCTGCAATAAAAAGGCAATTACCCGAGTGTTTCAGGCAGGACACCCTTTCAGAGTCAATGACTGGCCCCCTCCTACCCTTCTGTTAGCCATGTGGACTCTCCCCCTCCCCAATTTCATACCCCAGTGCACAGGCAGACAGCGAGGGGCCCATGGGGCTGTCATTGTTT
GAAATGAGGATGATGGCACATCCTGAAAAAAGAAGTAGGCACAGGAGAAACGGGGCATGTGGCCTCACAGTCCTCATGCAATCACACACAGACACACACATTCTTTCAGGAAGCTTCTCATTCTATTTCCACACACGCAGACCCTTGTTTATCTGGACGTTTATATATGTACAAGCGCGTAGACACGCAATACTCACACAAAAGGGAAAAATAAATTTACCACACTTCAACTTTCAACTCATATGTTGATGCATACATCCCGTAAGACTGAAATGATTCCAGAGCCTTATGCAGAAGAAACCACAACCACCAAGTTTTGTGTTCATGGGAACAAATACCATTGAAGCTGCTTCTGTCTGTCTTCTTCAGATGTGGTCCTGGTCTTGATCTCTGTCTCTCTCTCCCTCTCTTTCTCTCTCTCCTTCTCTCTCTCTCTCTCTCTCCTTCTCTCTCTCTCTCTCTCTCACATACACACACACACACACACACACACACACACACACACACACACACACACACACTTTCTTTGCTTTCCCACCCCCTCCAGAATAGATATGGAGGGAAGATGGGAGGTCACATTAGGAAAGCAAACCCCATGCTCGGTCTGGGAGGCCAGCAAGGGAGGATGGCTGCAGGTTGAGTTAATCAATATGTAATATTTTCTATGGTCTCCTGAATGATACTGTATGGTGTTACTGTATATAATGCAATATTGATTATATCATATCGTATAATCACCTATAAACTGATATATATAACATTCCCAGAGGAACACCCTGGGGCCTCCGGCATGGGCTGGCCCCAGGCCCAAGGCTCCTCAGCTGGTCTTGGGCTGAGGGAAGCCTGGAGTGACCAAGCTGGTATGGGGTTTGGGGGGGAAACCCCACTTTGGGGGGCTGCAAGGTGTGGGTTCAGAGAGAGGCCACAGAGCAGGCACATTGCCTACTGTACACCTTGAAAACTCCAAGGAACCGACGCTGGGAGGCAAGGATAGGGGAGGGCTGAGAACGCCTGAGGAAAGGGGACATGGAGACAGGATTGGCCTGTAGACTCAGGGGAGCAGGCACCGGTGTGATAAGACTCTGCTCCCTCTGGAGACTTGCAGGAGGAACCAGGTGACCAAGAAACTGGCTCCTGTAGGAGGCTTGAGCCTGGGTCTAGGTTGGAGACAGAGGCCGAGAAGGCGGCCAGGGCATAGAGGCATCCACAGGGGCCCTTCTGTGGGCTCTGCCCAAGCGGGAGCTTTGCTGCTCTAGCGACACCTCTTTCCTCCCGCTTGGTTTCCCTCTGGCCTCAGTCCTGGCCCAACCCAAGCAGAGTGCCTCAGCTCTGCCTCAGAGCCCCTCCTCCCTCAGGGCGAAGTTGATTACTTCACCCAGTCTCCAGGTTACACTCGGCCTCGGAAATTTGATGGTTTTCAACCCTTGGAATTAGTGGAACTGAAATTCATCTCGGAGCCGAGTTCAATTCTCCACAGGCTCAGTAATGCCAGTCTGAGACACCCAGCTTCTTTCTTCCCCAGGCTGGCCCTGGCTTGGGGGCAGGGGGTGGTTCAGGGAGACATGCCCCAGGGAGCTGGCTCCTGGGAGCCCCCTGGCTCCACCTCTGCCTAATCCTTCCTGACCCCACAGTGTGACCGCTCCATCTCTTACCAGGTCCTCAGGTCCTTCTCTTCCTTGGGCTTCCTCAGCCAGATCTCTGAGGCAGGGCCACCCTCTGGTGTCAGCCCCACTGGCCCAGGGGCTGAGAGTAAGGGGTCCCATAGGGGTGCAGAGCTCCTGGGCCCGGAACCAGATGCCCACCTCTTTGCCCTGCACTGTTCCTGTGCCTCTGCTGGCCTGGCGCTAACGCCCCGAGTGTCCATGTGTTCTCCAGATGTGTCTGAGGGCTCAGTCCCCAATGGAGATTCCCAGAGTGGTGTGGACAGTTTGCGGAAGCACTTGCGAGCTGACACCTTCACCCAGCAGCAGCTGGAAGCTTTGGATCGGGTCTTTGAGCGTCCTTCCTACCCTGACGTCTTCCAGGCATCAGAGCACATCAAATCAGAACGGTGAGGAGGGAGCTTTCTGCTTGCAGAAGTAGAAAGGAGCCGGCAGAGCAAGGCCTCTCAAAAACTTGTTCACTAAACACCACATGCATAGCCAGCATTGTATGTGTTACACACGTGTGTTCTGTGTGTGTGCAGTGTGAACAGGCTCACATGAGACAGTATGGTATCGTTAAGACAAATCATTATGGTCTGTATATGGTAATTAGAAATGAGTTCTGGGTGCAAGAGTATGGCCTTGGGTAAATCATCTCTGTTCAGAGCCTCGGTTTCCCCATCTATAGAATGAAGGGCTTGGATGTAGGGTTTGTCAAGTCCCTTCTAGCTCCGCTTTTCTGTGGTTCTTGCATGGAGTACTCAGGAACATCCTCTTGCTGTGTCCCTTGCCCACACCCCCTCAGGGTCCTACAGAAAGTCTACGCTAGACTGGGGAGCTCTCCTTGCCCAGTGTCAGGAGAGCCTGCCTGTGCCTGCCTCCTGCTCCCCAAGCCAGCAATTCAATGGAACCCTAGGTAGGCTGGCAGCTTCCCACTTACACCCAACACTTTCTGCAGACACTGAGCAGCCCAGGACACATAGCATGGGGCACAGCATGTAACACACCAGCAAAACGCACAACGCAGAAACCATCTCCGAACTTTTCTATGTGCTGGTGTGCATGTGCTCACACTCCACCATCCACCTGCTCCCCTCACCCACAGCCCATGGTACTGTGCTCACACACCACTGTCCACCTGCTCCCCCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGCTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGTTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACTGTCCACCTGCTCCCCCGACCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGCTCCCTCACCCACAGCCCACGGTACTCACAGCTAGCCCCGGCAGCCGCATGGAGCCAGTGGGTGTGTGCTGCCCCCAGATCACCAGCTCAGCATACCCCTAGCATATGCCTCCACCCACATACGCTGGGTGGAGCCCCCAGCACACCCGCTCCCACACAGGGGCACACTCCCATCCCTGCTACACATGCAGCCCAGGCCAGGCCCACAGTCACAGCACAAGACAGCATTGCTGTGCTTGCATGCATGCACACACGCACCCACACATGCACGTCAGTGCAGCCCCACAGCGTTGAACGCTGTAGTTCCACTCTTAAGACTCCAACAGCTCCCAGCCACTCGCCTTTCTCCCCGCCCGTCCTTTTATCCCATAAGCTGTTTGTCTTCATAAAACAAAAATCAAAAGTCTTTTTAAGGTGCCCTGAGCCATAAACCAACAAAGGAGGAGCTGGCCGAGGCGGGCGGCTCAGTGCACCCTCCCTGAGTCCCCGCCTGTATTACAATGAATAACCTTTATTTACTTTCATTAGACTATTAAACACCAGCACAGTCATTTTTCCCCCTGAAACTCGGAGCAGGGCCCATAAAGCAAATCCGAAGCCTAATTGAGTTCATTTTAATTTCTCTCCGATCACAGCGAATTACTCTGGTGATAAATCAGGGGGCAGCTTCACCCCCAGTAGAAGGCCTAATTTGCAGCTAATTACAAAACTGATTTCTACAGGAAGATCAATACGAGAAGGAATTGGAAATGACGAGGCAATCCCGTCCAGCCATGGAGGGGAGGGGGTACTCTAGGGGGGCCAGGAAGCGGAAGGGAAAAAAACAGACCCGAAAGAGCAGGAAATCAGTTTTAATTTAACGTAATATTAATCAGAGCAACTTTTCCTGCTTTGTGCAGGCTCCCGGTCTGCCCAGCTCTGGGGTCTGGCTTGGCCGTGGCTGCAATAAAAAGGCAATTACCCGAGTGTTTCAGGCAGGACACCCTTTCAGAGTCAATGACTGGCCCCCTCCTACCCTTCTGTTAGCCATGTGGACTCTCCCCCTCCCCAATTTCATACCCCAGTGCACAGGCAGACAGCGAGGGGCCCATGGGGCTGTCATTGTTTN
pathogenic
166,975
Evaluate if the mutation on chromosome 10 at position 100809183 in PAX2 (paired box 2) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Focal_segmental_glomerulosclerosis_7']
TTACACCCAACACTTTCTGCAGACACTGAGCAGCCCAGGACACATAGCATGGGGCACAGCATGTAACACACCAGCAAAACGCACAACGCAGAAACCATCTCCGAACTTTTCTATGTGCTGGTGTGCATGTGCTCACACTCCACCATCCACCTGCTCCCCTCACCCACAGCCCATGGTACTGTGCTCACACACCACTGTCCACCTGCTCCCCCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGCTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGTTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACTGTCCACCTGCTCCCCCGACCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGCTCCCTCACCCACAGCCCACGGTACTCACAGCTAGCCCCGGCAGCCGCATGGAGCCAGTGGGTGTGTGCTGCCCCCAGATCACCAGCTCAGCATACCCCTAGCATATGCCTCCACCCACATACGCTGGGTGGAGCCCCCAGCACACCCGCTCCCACACAGGGGCACACTCCCATCCCTGCTACACATGCAGCCCAGGCCAGGCCCACAGTCACAGCACAAGACAGCATTGCTGTGCTTGCATGCATGCACACACGCACCCACACATGCACGTCAGTGCAGCCCCACAGCGTTGAACGCTGTAGTTCCACTCTTAAGACTCCAACAGCTCCCAGCCACTCGCCTTTCTCCCCGCCCGTCCTTTTATCCCATAAGCTGTTTGTCTTCATAAAACAAAAATCAAAAGTCTTTTTAAGGTGCCCTGAGCCATAAACCAACAAAGGAGGAGCTGGCCGAGGCGGGCGGCTCAGTGCACCCTCCCTGAGTCCCCGCCTGTATTACAATGAATAACCTTTATTTACTTTCATTAGACTATTAAACACCAGCACAGTCATTTTTCCCCCTGAAACTCGGAGCAGGGCCCATAAAGCAAATCCGAAGCCTAATTGAGTTCATTTTAATTTCTCTCCGATCACAGCGAATTACTCTGGTGATAAATCAGGGGGCAGCTTCACCCCCAGTAGAAGGCCTAATTTGCAGCTAATTACAAAACTGATTTCTACAGGAAGATCAATACGAGAAGGAATTGGAAATGACGAGGCAATCCCGTCCAGCCATGGAGGGGAGGGGGTACTCTAGGGGGGCCAGGAAGCGGAAGGGAAAAAAACAGACCCGAAAGAGCAGGAAATCAGTTTTAATTTAACGTAATATTAATCAGAGCAACTTTTCCTGCTTTGTGCAGGCTCCCGGTCTGCCCAGCTCTGGGGTCTGGCTTGGCCGTGGCTGCAATAAAAAGGCAATTACCCGAGTGTTTCAGGCAGGACACCCTTTCAGAGTCAATGACTGGCCCCCTCCTACCCTTCTGTTAGCCATGTGGACTCTCCCCCTCCCCAATTTCATACCCCAGTGCACAGGCAGACAGCGAGGGGCCCATGGGGCTGTCATTGTTTGTTTTTAAAAAAGGGGCGCCCATACCCGATCAGCCAGCAGTGCCAGGCTGAAGGCCCCACTAGGCCCTTCTCCCAGCTACTGGCTCTGCCAGTCATGTCATGGTTCCCCCTCCTCCCCAAGGCTCCTCGACATCCCATGCCTCTCAACAAGGGTATCCCCACTACTACACCCTACCCGCAGGGGTGCTTAGGCAGGAGATGCTACAGAAACATAAAGGGTGCTGGCATTAAGTGCCCAAAATGTGTAAAGGGTGCTGTGCCTCCGGTTTCACCAAGTCAGGTCTACTACCCGCACAAAACTTGCCATCATCCACCAAGCCCCCGCATCTCCCCTCTGCCCCACCATCTCTTTCTACCCCATCTGGGCGGGCTCCCCTGTTCCTCCTCCCCATCTGCACACCGAGCCCTTTCTCTGTGCGTGCATCAATAGAGAGCTGTCACTTTTCTCTCTCCTCCCAGGGGAACGAGTACTCCCTCCCAGCCCTGACCCCTGGGCTTGATGAAGTCAAGTCGAGTCTATCTGCATCCACCAACCCTGAGCTGGGCAGCAACGTGTCAGGCACACAGACATACCCAGTTGTGACTGGTAAGGGGGCTTCCAGGAGGGTGGGGGCACTGCGTTCAGTGGAGGGTGCCTCAGCCCATGCCATCTGAGGCCCAGTGTGAGGAGCAGGTCCCCCACCGTGATATTTACAGAGAGAACGAGGCTTCTAAAACCAGGGTGCTTCCTGAACAGGGGTGTGCAGATGTGGGGAGAAAAAAACTGGGGTCAGGGCATCTGTGGGCTTCAACCTGGAAAGGCTGATGCTAGGAGGGGCTGTTGCCAGTTCTTCCTCCTGTCCTTCGCCTCTCCCTTTGTCTATTTCTCTTCCCTCTCCCAAGTTGCCCAGAATCATGAGCCTCTTGTTAGGATGTCTGCAGAAAGCAAATAAGCCAGGCTGGTGAGAGTGGAGCATGGGTACCCAGTGTCCAGCCTCCACACTTGGGTCTCCAAGGCTCCTGGGGGACCCGCTTACCGCTCCCTCCAGGCAGCATGGGTGATCATGGCTTTGGGCTTGAGGGCATGGCACCCAGCTCTGTGGAGTTTGAGATGAGTACAATTATTCCAGCCTTCCTCCTGCTTCCCAGAGAGGTCAGTGACACCAAGGCTTGATTTCAAGGCCAGGTAGGATCAGGCTTGGCCCACAATCAAATGCAGAGCTAGGGGCGCCATGGCCAGGAGCCCCTACAAATGAAGAGCAGCAGGGCCAGTTAGTTTGGAAGGGGAGGTGGAGTCCAGGGAAGGCCGCAGAGCTCCAGGCTGTGGAATGCACGTGCCACTGCAGAAGGGTTTCCAGGCCAGGAGACTGCCCAAATGGGAGAGACACGCATTGAGGTGTTATTAAAATTCACCTAATTATTCTGGAGACACTAAAGCCAATGTGCCGTTTGTTCCTTGGGAGACAGGATGATTGAGAAGGGTCTCGGTGGGGATTGGGAGACACTGAGGCGTTACCTGCAGAGCGAGGCAAGCGGAGGTGGCCTGCGGACCCAGCAGCAGGGCTGCAGAGCCAGCGGCAAAGGCAGGGAACAGGCACCGCCCACTCTAGGACTGGGCCCTGGTTCTGCCTGTGAGCTGGTCTGAGTGCGGCTGCATTTGAGCCTGAGCTGGGCTCAGTGGCCACCCAGCCTCCACCTGGGGGCTTAGGAGAGCCCTGTCAGTTTTCCCAGCCTCTCCCTAAGGGGCTGTACTGGTACAACTGTTTCCAGCCTAGATCTTTGGCTAGGGAGTCAGAGGTTGAATTCTAGAAGTGTTGGAGACCTGGACTGGGCTTTCGGGAGTGACGACCTTAGCTGGGTTAGCTGGGCCAGGACACAGCCCATGACCAAATGGCCCTCAGCATGAGCCATCCTTCGCCCAGCTGGGAAGCTCTCTGACCTGCTAGGTATTCTGACCCAAGGCAGAGAGACGGCCCAGGCCAGGCCACCTTTCTCCTGACCTGCTCAGAAGTACAGTGGTCACTTCCCAAAGATGGCCACTCCAGGCACTGTTCAAAGAGAACCCGGGAGACTTCTCTAACCCCATCTGCTGCCCAGCGCTCAGGCCATAGTCTAGAAGGCAAGGGCTTCCTAGGGTGGAGCTATGGATCTTCAGGGTAGGGCTCCTGCCACAGGAGACCCAGGGGCTGGTACAGAGAAGTGCCTCCACCTTGAGCAGCCCCCACCCGCCTCCCCCCCATGGCCCTGGAACAGTCCCAGCTCAGCCTGGGAACATCTCCGGCTGATCCATCTGGATCCAAGTGTGAGAAAAGTTCATTTCAGACCCAGCTTGACATTCCCAGGTGGCAAGTTAGCACTAACATCTCAATCTGTATGCGACATTTCAATCAAGCGAGGAGTAACAAAAGCAGAACCATTAACATTCGGAGCTGTTCACCAGTGGTAATGACGGGGAAACTCGCTCAGAAACTGGAAATTACCAAAAAGAGACAAGTGTGTGGAGAGGTGGGGGAGGGAAGATGGGGATAGGGGTAGGGAATGATTTTTCCACACTTAGGCCAAGATCCACTGTTTGGATTAATAGTGCCATTACCCAAGAAA
TTACACCCAACACTTTCTGCAGACACTGAGCAGCCCAGGACACATAGCATGGGGCACAGCATGTAACACACCAGCAAAACGCACAACGCAGAAACCATCTCCGAACTTTTCTATGTGCTGGTGTGCATGTGCTCACACTCCACCATCCACCTGCTCCCCTCACCCACAGCCCATGGTACTGTGCTCACACACCACTGTCCACCTGCTCCCCCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGCTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGTTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACTGTCCACCTGCTCCCCCGACCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCTGCTCCCTCACCCACAGCCCACGGTACTCACAGCTAGCCCCGGCAGCCGCATGGAGCCAGTGGGTGTGTGCTGCCCCCAGATCACCAGCTCAGCATACCCCTAGCATATGCCTCCACCCACATACGCTGGGTGGAGCCCCCAGCACACCCGCTCCCACACAGGGGCACACTCCCATCCCTGCTACACATGCAGCCCAGGCCAGGCCCACAGTCACAGCACAAGACAGCATTGCTGTGCTTGCATGCATGCACACACGCACCCACACATGCACGTCAGTGCAGCCCCACAGCGTTGAACGCTGTAGTTCCACTCTTAAGACTCCAACAGCTCCCAGCCACTCGCCTTTCTCCCCGCCCGTCCTTTTATCCCATAAGCTGTTTGTCTTCATAAAACAAAAATCAAAAGTCTTTTTAAGGTGCCCTGAGCCATAAACCAACAAAGGAGGAGCTGGCCGAGGCGGGCGGCTCAGTGCACCCTCCCTGAGTCCCCGCCTGTATTACAATGAATAACCTTTATTTACTTTCATTAGACTATTAAACACCAGCACAGTCATTTTTCCCCCTGAAACTCGGAGCAGGGCCCATAAAGCAAATCCGAAGCCTAATTGAGTTCATTTTAATTTCTCTCCGATCACAGCGAATTACTCTGGTGATAAATCAGGGGGCAGCTTCACCCCCAGTAGAAGGCCTAATTTGCAGCTAATTACAAAACTGATTTCTACAGGAAGATCAATACGAGAAGGAATTGGAAATGACGAGGCAATCCCGTCCAGCCATGGAGGGGAGGGGGTACTCTAGGGGGGCCAGGAAGCGGAAGGGAAAAAAACAGACCCGAAAGAGCAGGAAATCAGTTTTAATTTAACGTAATATTAATCAGAGCAACTTTTCCTGCTTTGTGCAGGCTCCCGGTCTGCCCAGCTCTGGGGTCTGGCTTGGCCGTGGCTGCAATAAAAAGGCAATTACCCGAGTGTTTCAGGCAGGACACCCTTTCAGAGTCAATGACTGGCCCCCTCCTACCCTTCTGTTAGCCATGTGGACTCTCCCCCTCCCCAATTTCATACCCCAGTGCACAGGCAGACAGCGAGGGGCCCATGGGGCTGTCATTGTTTGTTTTTAAAAAAGGGGCGCCCATACCCGATCAGCCAGCAGTGCCAGGCTGAAGGCCCCACTAGGCCCTTCTCCCAGCTACTGGCTCTGCCAGTCATGTCATGGTTCCCCCTCCTCCCCAAGGCTCCTCGACATCCCATGCCTCTCAACAAGGGTATCCCCACTACTACACCCTACCCGCAGGGGTGCTTAGGCAGGAGATGCTACAGAAACATAAAGGGTGCTGGCATTAAGTGCCCAAAATGTGTAAAGGGTGCTGTGCCTCCGGTTTCACCAAGTCAGGTCTACTACCCGCACAAAACTTGCCATCATCCACCAAGCCCCCGCATCTCCCCTCTGCCCCACCATCTCTTTCTACCCCATCTGGGCGGGCTCCCCTGTTCCTCCTCCCCATCTGCACACCGAGCCCTTTCTCTGTGCGTGCATCAATAGAGAGCTGTCACTTTTCTCTCTCCTCCCAGGGGAACGAGTACTCCCTCCCAGCCCTGACCCCTGGGCTTGATGAAGTCAAGTCGAGTCTATCTGCATCCACCAACCTGAGCTGGGCAGCAACGTGTCAGGCACACAGACATACCCAGTTGTGACTGGTAAGGGGGCTTCCAGGAGGGTGGGGGCACTGCGTTCAGTGGAGGGTGCCTCAGCCCATGCCATCTGAGGCCCAGTGTGAGGAGCAGGTCCCCCACCGTGATATTTACAGAGAGAACGAGGCTTCTAAAACCAGGGTGCTTCCTGAACAGGGGTGTGCAGATGTGGGGAGAAAAAAACTGGGGTCAGGGCATCTGTGGGCTTCAACCTGGAAAGGCTGATGCTAGGAGGGGCTGTTGCCAGTTCTTCCTCCTGTCCTTCGCCTCTCCCTTTGTCTATTTCTCTTCCCTCTCCCAAGTTGCCCAGAATCATGAGCCTCTTGTTAGGATGTCTGCAGAAAGCAAATAAGCCAGGCTGGTGAGAGTGGAGCATGGGTACCCAGTGTCCAGCCTCCACACTTGGGTCTCCAAGGCTCCTGGGGGACCCGCTTACCGCTCCCTCCAGGCAGCATGGGTGATCATGGCTTTGGGCTTGAGGGCATGGCACCCAGCTCTGTGGAGTTTGAGATGAGTACAATTATTCCAGCCTTCCTCCTGCTTCCCAGAGAGGTCAGTGACACCAAGGCTTGATTTCAAGGCCAGGTAGGATCAGGCTTGGCCCACAATCAAATGCAGAGCTAGGGGCGCCATGGCCAGGAGCCCCTACAAATGAAGAGCAGCAGGGCCAGTTAGTTTGGAAGGGGAGGTGGAGTCCAGGGAAGGCCGCAGAGCTCCAGGCTGTGGAATGCACGTGCCACTGCAGAAGGGTTTCCAGGCCAGGAGACTGCCCAAATGGGAGAGACACGCATTGAGGTGTTATTAAAATTCACCTAATTATTCTGGAGACACTAAAGCCAATGTGCCGTTTGTTCCTTGGGAGACAGGATGATTGAGAAGGGTCTCGGTGGGGATTGGGAGACACTGAGGCGTTACCTGCAGAGCGAGGCAAGCGGAGGTGGCCTGCGGACCCAGCAGCAGGGCTGCAGAGCCAGCGGCAAAGGCAGGGAACAGGCACCGCCCACTCTAGGACTGGGCCCTGGTTCTGCCTGTGAGCTGGTCTGAGTGCGGCTGCATTTGAGCCTGAGCTGGGCTCAGTGGCCACCCAGCCTCCACCTGGGGGCTTAGGAGAGCCCTGTCAGTTTTCCCAGCCTCTCCCTAAGGGGCTGTACTGGTACAACTGTTTCCAGCCTAGATCTTTGGCTAGGGAGTCAGAGGTTGAATTCTAGAAGTGTTGGAGACCTGGACTGGGCTTTCGGGAGTGACGACCTTAGCTGGGTTAGCTGGGCCAGGACACAGCCCATGACCAAATGGCCCTCAGCATGAGCCATCCTTCGCCCAGCTGGGAAGCTCTCTGACCTGCTAGGTATTCTGACCCAAGGCAGAGAGACGGCCCAGGCCAGGCCACCTTTCTCCTGACCTGCTCAGAAGTACAGTGGTCACTTCCCAAAGATGGCCACTCCAGGCACTGTTCAAAGAGAACCCGGGAGACTTCTCTAACCCCATCTGCTGCCCAGCGCTCAGGCCATAGTCTAGAAGGCAAGGGCTTCCTAGGGTGGAGCTATGGATCTTCAGGGTAGGGCTCCTGCCACAGGAGACCCAGGGGCTGGTACAGAGAAGTGCCTCCACCTTGAGCAGCCCCCACCCGCCTCCCCCCCATGGCCCTGGAACAGTCCCAGCTCAGCCTGGGAACATCTCCGGCTGATCCATCTGGATCCAAGTGTGAGAAAAGTTCATTTCAGACCCAGCTTGACATTCCCAGGTGGCAAGTTAGCACTAACATCTCAATCTGTATGCGACATTTCAATCAAGCGAGGAGTAACAAAAGCAGAACCATTAACATTCGGAGCTGTTCACCAGTGGTAATGACGGGGAAACTCGCTCAGAAACTGGAAATTACCAAAAAGAGACAAGTGTGTGGAGAGGTGGGGGAGGGAAGATGGGGATAGGGGTAGGGAATGATTTTTCCACACTTAGGCCAAGATCCACTGTTTGGATTAATAGTGCCATTACCCAAGAAAN
pathogenic
166,984
Variant in TWNK (twinkle mtDNA helicase), chromosome 10, position 100987903—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
benign
ACAACAGTTCAAGAATTCTTACAGGGGTTTCTAGATTTTCATTTCCTGCCTCTCATTTCCCCACCATCCCCCCTTTTTAAACTAAGATTAGAAAATACTCATTAATATCAGCCTTCCTGCCCTTCCCCAAGGTTCTCAGCACCCCCCACCAGCTGGCTCAAGGGACATGGATTTTATTTCTGCACAAAGAGGGACGTGGGGGGAAGGAGATGTATAGCTAAGACCAGAGAAAGCTTGTCAGCCAGGACTTGGTCTGAGAATCACTCCCCTCTCCCTTTCAGGGGTCAGGCCTAGATTAATCACTTGGCCTTTGATACTAACCACCTGACAGTTGTTATATGTTCTGCGTCTAGTTTTAAAATAATGAAAACTGAGGCTTGTGCTTAACATATGCACACATTTTGAAGACAGACCTGAAATGTGACCTTGGATAAGTTTATTAACCTGTTTTATAAATCTGTATTCACACAGATATAAAGTGCCTAGCCCATCACAGCAGAGCTCTCCGTAGCTCAGTGGTTGTTCCAATAAGACATCAGGGATTCTTCAGAAGCCAGCCTTCAGACCTCTCACTGTGTTTTGAGATCATTATTATCAATTTGGATTTAAAAAACAAGGGCCCTGTAAAACCCTTGAAGTCTTCCTCATCTCAGGTTTTAGGGATGCCACTTGCATAAAAATGAGTGGTTCACAAGGTCACTGCCCCCAGAAGCAGGCACTGGAAAGAAACAGGCAGCTCTTCATTATCCCAAGCAGAACCTCTGTCAACTTGCCCATTGATGGGTTCCATTTGCCTGGGCTTGGAATCCCAAAGGGGAAGAACCACCTTTACCGGAGTAACAGTCCAAAGCCTGGGGCTGCAGTTGGTGGGGCAACTCTTCACTGTGCTTGCACCTGGGCTGGGGCAGGATCCTGAACCTCTCGGGGGCGTAGCCCGCGGAACGTGGTCGGCTTGTTGGTGAAGGGGTGCCACTGGCCCTGGATGCTAGGGTTGTCGGTGTGGAAGGGCTTGCGGATGCGGATCACGTCCAAGCCCGACTGGTCGGCCAGCTTCTGCACCAGCGTCGAGATCTCCTCGACCGACTTGCAGTGGATGCTCTCCTCGCGCACAGCCCCGTTAACTGGCAGAAGAGGGGTGAGAGTGGGTGGAAGCTGGCCGGTGCGACCAAGCGAGAAGGAGGATAGCGGGTCGAGCCCCTGATCCCGCCCTCCAGCCCGAGCCCGGCCCCACTCACGGTATTCGGCCACTACTCTGGGCACGCAGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGT
ACAACAGTTCAAGAATTCTTACAGGGGTTTCTAGATTTTCATTTCCTGCCTCTCATTTCCCCACCATCCCCCCTTTTTAAACTAAGATTAGAAAATACTCATTAATATCAGCCTTCCTGCCCTTCCCCAAGGTTCTCAGCACCCCCCACCAGCTGGCTCAAGGGACATGGATTTTATTTCTGCACAAAGAGGGACGTGGGGGGAAGGAGATGTATAGCTAAGACCAGAGAAAGCTTGTCAGCCAGGACTTGGTCTGAGAATCACTCCCCTCTCCCTTTCAGGGGTCAGGCCTAGATTAATCACTTGGCCTTTGATACTAACCACCTGACAGTTGTTATATGTTCTGCGTCTAGTTTTAAAATAATGAAAACTGAGGCTTGTGCTTAACATATGCACACATTTTGAAGACAGACCTGAAATGTGACCTTGGATAAGTTTATTAACCTGTTTTATAAATCTGTATTCACACAGATATAAAGTGCCTAGCCCATCACAGCAGAGCTCTCCGTAGCTCAGTGGTTGTTCCAATAAGACATCAGGGATTCTTCAGAAGCCAGCCTTCAGACCTCTCACTGTGTTTTGAGATCATTATTATCAATTTGGATTTAAAAAACAAGGGCCCTGTAAAACCCTTGAAGTCTTCCTCATCTCAGGTTTTAGGGATGCCACTTGCATAAAAATGAGTGGTTCACAAGGTCACTGCCCCCAGAAGCAGGCACTGGAAAGAAACAGGCAGCTCTTCATTATCCCAAGCAGAACCTCTGTCAACTTGCCCATTGATGGGTTCCATTTGCCTGGGCTTGGAATCCCAAAGGGGAAGAACCACCTTTACCGGAGTAACAGTCCAAAGCCTGGGGCTGCAGTTGGTGGGGCAACTCTTCACTGTGCTTGCACCTGGGCTGGGGCAGGATCCTGAACCTCTCGGGGGCGTAGCCCGCGGAACGTGGTCGGCTTGTTGGTGAAGGGGTGCCACTGGCCCTGGATGCTAGGGTTGTCGGTGTGGAAGGGCTTGCGGATGCGGATCACGTCCAAGCCCGACTGGTCGGCCAGCTTCTGCACCAGCGTCGAGATCTCCTCGACCGACTTGCAGTGGATGCTCTCCTCGCGCACAGCCCCGTTAACTGGCAGAAGAGGGGTGAGAGTGGGTGGAAGCTGGCCGGTGCGACCAAGCGAGAAGGAGGATAGCGGGTCGAGCCCCTGATCCCGCCCTCCAGCCCGAGCCCGGCCCCACTCACGGTATTCGGCCACTACTCTGGGCACGCAGCACGGACGCGAGTTTACATATATTACGACCCCTGGATTCCGTCGGGCGAAGTCGATCACCTCCCGCTCCACGAACTCCCTAAGCGACCCGGGACAGTGAGCAGTATGACCCCTGACTGGGGGCGACCTACCCGGGGAGTCGTTGCCACCTCCACACCCACCCCGACCCGCGCCTGCGCACTTCCCTTGGCTCACCTGGCGCCGCGAGACGAGGCGCCGTCGCGGCTGACGCTGAAGCTCAGACGCTGCAGCTGCTGCACATAGCGACCCAGTCCGTTGTGGAGAACGCTGGCCAAGAAGCGGCTCGGAGTCCCGCGCGCCGTCATAGCTACAGCTTGGAGGCCGCGGAGCCTAAGCAGCGAGGAGAGGGGGGCGGGACTAAACCTCGAGGCTTCCGGTTCCGGGACGACCGCTCCCGGAGTTTTGCTTCCGAGGTCAAGGCGAGTAGCATGTGCGGGAGACTCACGTTGCCGGCGAAGTGGGAGAGAGAAAAGTGGTAACCTGGGGCTGGGGGCCGGCGCGGCGGAGCTCGGAGTAGTAGAGCGGAGTGAAGACACGGGGGAGGATAGAGACTGGCATTCCTTTGGGCCGGGGGATTGGCGGGAGTCGTGCTGGGTGCTCTCGCCGTGTTGAGGTCCCAGTGAGGGGAAGGAGAAGCGGAAGAGGGTCTCTAGTCGGGGCCTAGGGCAAAGGGACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTNN
benign
167,001
Is the genetic change at chromosome 10, position 100989860, within gene TWNK (twinkle mtDNA helicase) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic
ACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTTTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAGTCCCAGC
ACTACAAAAAGGATGCAGATGACTATAGAAATGAGGACGACGAGGAGATGCTGTGGAGGAGCAGTAGAGGTGAGAAGATGATGCAAAGAAACTGTGTCAGTGAGGAACTGTATAGAGGGTCATAGAGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCATTGTAGAAGGACGTGGACGCGAAAGGGTCGTGTAGATGGGCATATGTGTGAAGCAGCAACGTAGAGGGGCTGAAGAGGAGAAATTCATGGAGAGAAAGAATGCACCTAGAGTGAGCTCTGCAGAGTGCTGCGTGGGATATCCCTAGAGTTTGGTCTAGTGAAGGCACGCTAACCAGGCACCTAAGGCATTTCAAGTAGTGACTTCCCACATTTGGCTAGGAATGTGGGTCCTCCTCCGAAGTGGGTACCCCCTCCGTATCTTGTTACCCCTGCGTGGGGAGTGGATGGGTCGGAGGGGCCTGCCCCGAAACTTGGCCCCAGGCCCTCCTCGCAGACGTTACAGGAAGGAGACTCTCCAAGCCTTGGATATGCCAGTGTTGCCTGTAACTGCAACTGAAATCCGCCAGTATTTGCGGGGGCATGGGATCCCCTTCCAGGATGGTCACAGTTGCCTGCGGGCACTGAGCCCCTTTGCAGAGTCTTCACAGCTCAAAGGCCAGACTGGTGTTACCACTTCCTTCAGCCTCTTCATTGACAAGACCACAGGCCACTTTCTCTGCATGACCAGCCTAGCAGAAGGGAGCTGGGAAGACTTCCAGGCCAGCGTGGAGGGGCGAGGGGATGGGGCCAGGGAGGGGTTTCTGCTTAGCAAGGCACCAGAATTTGAGGACAGCGAGGAGGTCCGGAGGATCTGGAACCGAGCAATACCTCTCTGGGAGCTGCCTGATCAGGAGGAGGTTCAGCTGGCTGATACAATGTTTGGCCTTACCAAGGTTACAGATGACACACTCAAGCGTTTCAGTGTGCGATATCTGCGACCTGCTCGCAGTCTTGTCTTCCCTTGGTTCTCCCCTGGGGGCTCAGGATTACGAGGCCTGAAGCTCCTAGAGGCTAAATGCCAGGGGGATGGAGTGAGCTACGAGGAAACCACTATTCCCCGACCCAGCGCCTACCACAATCTGTTTGGATTACCACTGATTAGTCGTCGAGATGCTGAGGTGGTACTGACGAGTCGTGAGCTTGACAGCCTGGCCTTGAACCAGTCCACGGGGCTGCCTACCCTTACTCTACCCCGAGGAACGACCTGCTTACCCCCTGCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCGCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTTCTTGGTGCGACCAGGAGACCAGCAACCCCGTCCCCTGGAGGCCCTGAACGGAGGCTTCAATCTTTCTCGTATTCTTCGTACCGCCCTGCCTGCCTGGCACAAGTCCATCGTATCTTTCCGGCAGCTTCGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGCAGCTGGCCTCCGCTGGAGCCGCTTTCCAGACCTCAATCGTATCTTGAAGGGACATCGAAAGGGCGAGCTGACGGTCTTCACAGGTAACCCTTTGAGAAATCACTACTTAGAGTAAAGGGGCAGAAGATCAGGTGACAAAAGCAAGTGGGTTTGGGCCATGACAATGTTGAAAAGAAGGTTGGCCCTTTCCCCCCAGTTTTAAAGCCCTGACCTATGTCTTGGTTTCAAGGGTAGGACTTCCTCCTCACCCAGGTCTGTTCCACCCCACTGCAGGGCCAACAGGCAGTGGAAAGACGACATTCATCAGTGAGTATGCCCTGGATTTGTGTTCCCAGGGGGTGAACACACTGTGGGGTAGCTTCGAGATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTTTGCCGAGGGGCGGCTGGAAGATCAACTGGACAAATATGATCACTGGGCTGACCGCTTTGAGGACCTGCCCCTCTATTTCATGACTCCATGGACAGCAAAGCATCAGGTGAGACTCCCAGATTCCAGCCACCTTGCTTTCCCAGACATATCCCAGCACTCAGGAACCTTTGGTTCCTTTTCCAGCTCCAGTAGGAACTCCCCCATCTCCTTAGGTTTGGAGTTTTTCAAAGAATGAGAGGGCAGGGCTGGACACACTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGGATTTGAGACCAACCTGGGCAATATAGGGAGACCACCCCTCTCTATAAAAAAATTTTTAAAAATTAGGCTGGGCATGGTGATGGCATATGCCTGTGGTCCCAGCTACTCAAGAAGCTAAAGTAAGAGGATCGCTTGAGCCTAGTAGGTTGGGGCTGCAGTGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCTACAGAGCAAGACCTTGTCTCAAATAATAGTAATAATAATAGAAGGGCAGAGGAGGCAGCCAAGAGAGTTTTCAGGATGCTAGTTCTTCTGCCTGGGGTGGTCTAGAGACAACTTGTCAAATTCCTTGCCTTTCCTCTTCCCAGGACTGTAATAGATACAATGCAACATGCAGTCTACGTCTATGACATTTGTCATGTGATCATCGACAACCTGCAGTTCATGATGGGTCACGAGCAGCTGTCCACAGACAGGTGACGGTGACATCCTCTCTTGTCTAGCTTGAGCCCGCTTGGACATACAACACACACTTCTCAGGCAGCTGGCCTCTAGGCACACATGCTGTGCTCTCCTATTTTCTGAGATGTGTGCAGGCACGTACCACCCCCATGTGTATCATATGGAGGTGTGGGGTATGGCAGCAGGATGTATGGACAGGGATCTGAGTGTGAGTCCTTGGGTAGAGGGAGGTAGAGTGGGTTGTGGTAGTTTGTGGGGAGATGTGAATGGATCAAGAGTATGTGTATGTTCTTGTCCTTCTGTGTCTGATAAGCTCTTTGTGTTGTTGGGATGGCGTAGGATCGCAGCTCAAGACTACATCATCGGGGTCTTTCGGAAGTTTGCAACAGACAATAACTGCCATGTGACACTGGTCATTCACCCCCGGAAAGAGGATGATGACAAGGAACTGCAGACAGCGTCCATTTTTGGCTCAGCCAAAGTGAGTGGCCTTTAGCGGAGCTCAAGCTTTGGAAAATAGAGTGGGTAGGTGTGACCAGGGACAGCCCTCATTCAGCCTTAATCGTCTTGACTGTCCATCCGAACAGGCAGGAGGCAATGCCTCTGGGGCCATGACATGAGGAATATATGTGCTGGAAATACAAAGGCTGATAGTTGGTTCTTATGCTCTTCTTGTCCCCCAGGAGCTCACATCCTCTCCTGGGGAAACAGTAAGACAGTGATTGCAATTCAGTATGATAAGAGTATGATAGGCAGCACAAGTATTTGGAGAGCAAAGAGAAAAGATGTCTGAGTCAGCCCGGGACATCTGGGAGACTTCCAGAGGAGGTGACAACAAAGGTTGGGTTGAGGTTTGGTAGACAATGGGTATTAGACAATCAGATAAATGTGAGGGCCTTCTGGGCATCAGGACCAGCCCAATCCTGGAGCTTCTAGTGTTACACTGAATGCCTATTACATACGAGGCCTGGGCTGGGCCTAGGGAATTCAGAGCAAGGAGCACAAATCATGTGCCATGATGGAACAAACATGGAGCTGGGAAAGAGAGTAATGCAGAAGTGGAAAAATGGCAGGGTACAGTGGATCACACCTGTAATCTCAACACTTTGGGAGGCTGAGGCAGGAGGATTGCTGGGGCCCAGGAGTTTGGCAATCTGAGCAATGTAGTGAGACCCTGTCTCTACAAAAATATTTGAAAATTGGCCAGGCGTGGTGGCTCACGCTTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACTATCTTGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCNN
pathogenic
167,027
Is the genetic change at chromosome 10, position 101009275, within gene PDZD7 (PDZ domain containing 7) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic
ACTTAGGCCCCAGGGTCCACGGATGGCCCCAAAGGCTGAGGGCCCCAAAGCCACTTGTCTCCTAGGATCCAGGCCTCTGGGCTTCTGCCAAGAACTCAGGGTGGCCCTATGACTTGGAGGAGCAAGATCAGACCGCTCAAAGGTCCCCGTGTTCACTGTTACCCAGAGGCTCTTGTTACTACCCACTTCATTCCCCACCGCTGCCAGTGCCACTGCCAACCCTGTTCACAGGCGCTTCCAGCCCACTCCAGCCAGGGGAGCAGGGAAGAAGAAGGGGCTCCCTCCTCTTCACATTCCCCCCGACCCCAAAGCCAGAGAAAGCCAGATGGCACCAGCTGCTCCGGATGTGCCTGCCCACATTGGGGGACAGGGCCGGGCCTGGGCTCGGTTCCCAGGTTTGAGCTCTGCAGCCTCTCTCCTGGAGTGAGGGGGCTGAAGTCAGACCAAAGGAAGAACTCAGAAATGTCTTGTTTATTTGTGTTTGTGACCAAGCAGCCTCTCCCTTCACCCAGGTTTATGGCCTCGTTTTCACTTGTATATTTTTCACACTGTAAATTTCTTGTACAAACCCAAAGAAAAAATTAAAAAAAATTTTTTTGTTTAAAAATAATGTGAATGTGCTGGATAAAGAGTACAGGAACTTGTTTGACCCCCCCCCCCCCACCATTTGCTGGCTATTCTCCTCCCCCTCATAGAGCTCTCTTGGGGAGAAAAGGTGATGGAGGAAGGACAAATCCAGTAGAATGTCTGAGGTCTTAGTGGACCCCAACGTGAAATGATCTCTCAGGATTTCAGGGACTAGAAAAGCCTTTCATCCGTTTCCTTGCACAGAATGCTGCTTGGGGTTGAGGAATGGATGCATTGACCCCTTCAGGGCCCTGTCTGAGAGTCTGTGTCCCTGGAGGCTTGGGCGACTCATAAGGGACAGCATGTGAGAAAGTGCCCACCAATCCCAAGCTCCAGACCTTGGCTTTCTCACCCCCTATCCTGGCTTGGGAGGTTGGGGAGCAGTGAGTGCAGGTGACACAGGCTGCCCACTAGCACCTTGTCCTTGGACACTAAGGCAGAGCCTTAATGACAGCTGAGGAGGGAAGAAAGTGGAAAGATGTGAGCCACCAGTGTGGCACTGGGAGGAGGCAGGGTGGGCAGGAGCTGGAGAGTCCTGAAGAAGTTGGTAGGAGAGGTCCTGGGGATAACGGGATGCTGGAGTCAGTGGGTGAATCTGAGGTTAGGGGGAGGGTCATGGGATGCGTGGGGAGGGTGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT
ACTTAGGCCCCAGGGTCCACGGATGGCCCCAAAGGCTGAGGGCCCCAAAGCCACTTGTCTCCTAGGATCCAGGCCTCTGGGCTTCTGCCAAGAACTCAGGGTGGCCCTATGACTTGGAGGAGCAAGATCAGACCGCTCAAAGGTCCCCGTGTTCACTGTTACCCAGAGGCTCTTGTTACTACCCACTTCATTCCCCACCGCTGCCAGTGCCACTGCCAACCCTGTTCACAGGCGCTTCCAGCCCACTCCAGCCAGGGGAGCAGGGAAGAAGAAGGGGCTCCCTCCTCTTCACATTCCCCCCGACCCCAAAGCCAGAGAAAGCCAGATGGCACCAGCTGCTCCGGATGTGCCTGCCCACATTGGGGGACAGGGCCGGGCCTGGGCTCGGTTCCCAGGTTTGAGCTCTGCAGCCTCTCTCCTGGAGTGAGGGGGCTGAAGTCAGACCAAAGGAAGAACTCAGAAATGTCTTGTTTATTTGTGTTTGTGACCAAGCAGCCTCTCCCTTCACCCAGGTTTATGGCCTCGTTTTCACTTGTATATTTTTCACACTGTAAATTTCTTGTACAAACCCAAAGAAAAAATTAAAAAAAATTTTTTTGTTTAAAAATAATGTGAATGTGCTGGATAAAGAGTACAGGAACTTGTTTGACCCCCCCCCCCCCACCATTTGCTGGCTATTCTCCTCCCCCTCATAGAGCTCTCTTGGGGAGAAAAGGTGATGGAGGAAGGACAAATCCAGTAGAATGTCTGAGGTCTTAGTGGACCCCAACGTGAAATGATCTCTCAGGATTTCAGGGACTAGAAAAGCCTTTCATCCGTTTCCTTGCACAGAATGCTGCTTGGGGTTGAGGAATGGATGCATTGACCCCTTCAGGGCCCTGTCTGAGAGTCTGTGTCCCTGGAGGCTTGGGCGACTCATAAGGGACAGCATGTGAGAAAGTGCCCACCAATCCCAAGCTCCAGACCTTGGCTTTCTCACCCCCTATCCTGGCTTGGGAGGTTGGGGAGCAGTGAGTGCAGGTGACACAGGCTGCCCACTAGCACCTTGTCCTTGGACACTAAGGCAGAGCCTTAATGACAGCTGAGGAGGGAAGAAAGTGGAAAGATGTGAGCCACCAGTGTGGCACTGGGAGGAGGCAGGGTGGGCAGGAGCTGGAGAGTCCTGAAGAAGTTGGTAGGAGAGGTCCTGGGGATAACGGGATGCTGGAGTCAGTGGGTGAATCTGAGGTTAGGGGGAGGGTCATGGGATGCGTGGGGAGGGTGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCG
pathogenic
167,049
The genetic variant at chromosome 10, position 101009348, affecting gene PDZD7 (PDZ domain containing 7): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic
CCTCTGGGCTTCTGCCAAGAACTCAGGGTGGCCCTATGACTTGGAGGAGCAAGATCAGACCGCTCAAAGGTCCCCGTGTTCACTGTTACCCAGAGGCTCTTGTTACTACCCACTTCATTCCCCACCGCTGCCAGTGCCACTGCCAACCCTGTTCACAGGCGCTTCCAGCCCACTCCAGCCAGGGGAGCAGGGAAGAAGAAGGGGCTCCCTCCTCTTCACATTCCCCCCGACCCCAAAGCCAGAGAAAGCCAGATGGCACCAGCTGCTCCGGATGTGCCTGCCCACATTGGGGGACAGGGCCGGGCCTGGGCTCGGTTCCCAGGTTTGAGCTCTGCAGCCTCTCTCCTGGAGTGAGGGGGCTGAAGTCAGACCAAAGGAAGAACTCAGAAATGTCTTGTTTATTTGTGTTTGTGACCAAGCAGCCTCTCCCTTCACCCAGGTTTATGGCCTCGTTTTCACTTGTATATTTTTCACACTGTAAATTTCTTGTACAAACCCAAAGAAAAAATTAAAAAAAATTTTTTTGTTTAAAAATAATGTGAATGTGCTGGATAAAGAGTACAGGAACTTGTTTGACCCCCCCCCCCCCACCATTTGCTGGCTATTCTCCTCCCCCTCATAGAGCTCTCTTGGGGAGAAAAGGTGATGGAGGAAGGACAAATCCAGTAGAATGTCTGAGGTCTTAGTGGACCCCAACGTGAAATGATCTCTCAGGATTTCAGGGACTAGAAAAGCCTTTCATCCGTTTCCTTGCACAGAATGCTGCTTGGGGTTGAGGAATGGATGCATTGACCCCTTCAGGGCCCTGTCTGAGAGTCTGTGTCCCTGGAGGCTTGGGCGACTCATAAGGGACAGCATGTGAGAAAGTGCCCACCAATCCCAAGCTCCAGACCTTGGCTTTCTCACCCCCTATCCTGGCTTGGGAGGTTGGGGAGCAGTGAGTGCAGGTGACACAGGCTGCCCACTAGCACCTTGTCCTTGGACACTAAGGCAGAGCCTTAATGACAGCTGAGGAGGGAAGAAAGTGGAAAGATGTGAGCCACCAGTGTGGCACTGGGAGGAGGCAGGGTGGGCAGGAGCTGGAGAGTCCTGAAGAAGTTGGTAGGAGAGGTCCTGGGGATAACGGGATGCTGGAGTCAGTGGGTGAATCTGAGGTTAGGGGGAGGGTCATGGGATGCGTGGGGAGGGTGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTG
CCTCTGGGCTTCTGCCAAGAACTCAGGGTGGCCCTATGACTTGGAGGAGCAAGATCAGACCGCTCAAAGGTCCCCGTGTTCACTGTTACCCAGAGGCTCTTGTTACTACCCACTTCATTCCCCACCGCTGCCAGTGCCACTGCCAACCCTGTTCACAGGCGCTTCCAGCCCACTCCAGCCAGGGGAGCAGGGAAGAAGAAGGGGCTCCCTCCTCTTCACATTCCCCCCGACCCCAAAGCCAGAGAAAGCCAGATGGCACCAGCTGCTCCGGATGTGCCTGCCCACATTGGGGGACAGGGCCGGGCCTGGGCTCGGTTCCCAGGTTTGAGCTCTGCAGCCTCTCTCCTGGAGTGAGGGGGCTGAAGTCAGACCAAAGGAAGAACTCAGAAATGTCTTGTTTATTTGTGTTTGTGACCAAGCAGCCTCTCCCTTCACCCAGGTTTATGGCCTCGTTTTCACTTGTATATTTTTCACACTGTAAATTTCTTGTACAAACCCAAAGAAAAAATTAAAAAAAATTTTTTTGTTTAAAAATAATGTGAATGTGCTGGATAAAGAGTACAGGAACTTGTTTGACCCCCCCCCCCCCACCATTTGCTGGCTATTCTCCTCCCCCTCATAGAGCTCTCTTGGGGAGAAAAGGTGATGGAGGAAGGACAAATCCAGTAGAATGTCTGAGGTCTTAGTGGACCCCAACGTGAAATGATCTCTCAGGATTTCAGGGACTAGAAAAGCCTTTCATCCGTTTCCTTGCACAGAATGCTGCTTGGGGTTGAGGAATGGATGCATTGACCCCTTCAGGGCCCTGTCTGAGAGTCTGTGTCCCTGGAGGCTTGGGCGACTCATAAGGGACAGCATGTGAGAAAGTGCCCACCAATCCCAAGCTCCAGACCTTGGCTTTCTCACCCCCTATCCTGGCTTGGGAGGTTGGGGAGCAGTGAGTGCAGGTGACACAGGCTGCCCACTAGCACCTTGTCCTTGGACACTAAGGCAGAGCCTTAATGACAGCTGAGGAGGGAAGAAAGTGGAAAGATGTGAGCCACCAGTGTGGCACTGGGAGGAGGCAGGGTGGGCAGGAGCTGGAGAGTCCTGAAGAAGTTGGTAGGAGAGGTCCTGGGGATAACGGGATGCTGGAGTCAGTGGGTGAATCTGAGGTTAGGGGGAGGGTCATGGGATGCGTGGGGAGGGTGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGNNNNNNNN
pathogenic
167,051
Assess the variant on chromosome 10, position 101010536, impacting PDZD7 (PDZ domain containing 7): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
benign
TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTTACAGAT
TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTT
benign
167,055
Is the chromosome 10, position 101010536 variant in PDZD7 (PDZ domain containing 7) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
benign
TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTTACAGAT
TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTTACAGATNNNNNN
benign
167,056
Variant on chromosome 10, at position 101010536, affecting PDZD7 (PDZ domain containing 7): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTTACAGAT
TGCGGGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTTACAGATNNNNNNNNNNNN
benign
167,057
Located at chromosome 10 position 101010540, the variant affecting gene PDZD7 (PDZ domain containing 7)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
benign
GGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTTACAGATGCGG
GGCTTAGAATCAGGAGTCTGGAGGGCTGGGGAGGGGGCTGGGCTGGGAGTTGGCTGGAGGAGCCTGGCATCAGTGGGAGGAGTCTGGGGATTGGTGGGAGGTTCTGGGAGCCAGTGGGCAGGAACTGGAGCAGCATCAAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTTACAGATGCGGNNNNNNNNNNNNNNNNNN
benign
167,058
Is the variant located on chromosome 10 at position 101010677, gene PDZD7 (PDZ domain containing 7), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Hearing_loss,_autosomal_recessive', 'Nonsyndromic_genetic_hearing_loss']
AAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTTACAGATGCGGAAACAGGCTCAGAGAGAAGGACTTCACTCAAAGCCACACAGATAAGGAAGTGTGAAGAGGGACTGGAACCCGGGAAGTCTAACTCTTGCCTGCTCTGGTGCCGGAAAAGGATGTGCAGGGAGTGGACTCTCCTCCCC
AAGGGGTTGGTGGGCAGGCAAGTGGTCAGCAGGAAGGCCCCCATCAGTAAGGGCTGATGAGTCAGAGGGTGAGGGCCGTGGGCTGGGCCCGGGGACCCTGACCACAAGCTCCATGGGCTCCCGGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTTACAGATGCGGAAACAGGCTCAGAGAGAAGGACTTCACTCAAAGCCACACAGATAAGGAAGTGTGAAGAGGGACTGGAACCCGGGAAGTCTAACTCTTGCCTGCTCTGGTGCCGGAAAAGGATGTGCAGGGAGTGGACTCTCCTCCCCN
pathogenic
167,065
Assess the variant on chromosome 10, position 101010799, impacting PDZD7 (PDZ domain containing 7): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Hearing_loss,_autosomal_recessive_57', 'Inborn_genetic_diseases']
GGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTTACAGATGCGGAAACAGGCTCAGAGAGAAGGACTTCACTCAAAGCCACACAGATAAGGAAGTGTGAAGAGGGACTGGAACCCGGGAAGTCTAACTCTTGCCTGCTCTGGTGCCGGAAAAGGATGTGCAGGGAGTGGACTCTCCTCCCCACCCCCACATCCCAGGCAGAAGGAAGGAATTTGAGCCAAACTCTAGGCTGTGTGCCTGGCTGTCCCAGCATATGTCTGCACACAGACCTACAAATTAGGCTTTGTTCGGGGCTAGAATAGGA
GGGCCTTGTTTCGATAAGCCCGACGGATGGTGTCTACTGCACGCTGGTGGGTCACCTGCTCTAGATTCTCTCCGTCCACTGCCACAAGCTCGAAGCCAGCCTAGGGTGGGGTGAGAGAGTCACATCCCTCCCTCCTCATGTCACCCTGCATCAGCCCCCAACCTGAAGGCAGCATCTTCTCACCTCCACCCATGAGGACACTCCTCCCCCATCTGGGTGGAGGGGATGGACAATGAGACTTTTGTGCCTGCAGTTGTTGGGGGCAGGGTGGGGCACAGACAAGGGCTCTTTGTCCCTTGGGGCTCAGGCTCAGGCTAGCATGAGGGGACAGAGTTTTCCCTGGGCCTGCTCATCCTGCTCACCTGAACCCCCTCACCCCAAGCCTCCTCCCACAACCCGGGCTAAACATGTCTGGCTGGAAGCTGAGCATGGCCAGCCCCACCTCCTGCCTGGTTTCAGCTGTGCTCTGAGAGGGTGGGCCAGGGCATGCTTCACCCACCTGCAGGGCCCCACTGAGGAAAGCGGCCCCCCCAGGGAAGATCTTCTCTATCTTCACCATGGGCTGCACCTTGGACTCAATGCCCCCAGAAATGCTGATACCTAGTGACAGGGAGAAACACCGTGTGAGAGTGCAGCCGGACCCCAAAATGCAAGCTCCCTGGAGAAACCTAGAATCCCATCCCCAAATCCAAGGCCCCAACTTCTCCCACATCCCTACATTCTGTTACTACTCAAATCTCAACTCATTCCAAAATCCTCCAGATCCCAGCCCCTCAAATCTAGACCCCACCCAACTGCACCCCAATACCCCAAATTCCCTTTTATTTATTTATTTTTTGAGACAGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAGCCGATTCTCCTGCCTCACCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCAACATGTCAGGCTAATTCTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTGGGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGAGACAGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAACCTCAGTTGGGCTCACGGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCCGCTCAGCCTTCTGAGTAGCTGGGATTACAGGCGCCCACCACCACACACGGCTAATTCTTTTGTATTTTTAGTGGAAACGGGGTTTCGCCATGTAGCCCAGGCTAGTCTTGACCTCCTGACCTCAAGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGTGTGAGCCTCTGCGCCTGGCCCAATACTCCTCCAGATTCTTTTCCTAGGCCCAGGCTTCCTAGTGTCCTCTGCCGGGCCCAGTCCCACGTGGACTCACCTAAGGACTGCTTCATCTTGGACAGTGTCACTGTCTTCAGCTCGCCACTGGGGTTCTTCATGGCTGCCTCCTTGGCCGTCCCCTCAGTTCCACTCTCCGAGGGCCCTTGCTTGGCCCCCACCTTGGCTGCCTCCCCATCCAGAGGTCGTGGCAGAGGGGGTCTGGCCTTCCGAGGCTTGTGGTAGCGCCCATTGGTCATGCTGGGGGCAGGGGTAGGCACCGGGGATGGGGAGCGTCTACCTGGAGACTTGCCTTGACCCCGGCTGCTGCGGCTGCGGCTGCGGCTACGGCTGCGGCTACGGCTCTGAGCCCGGCCCCGGATCTGGCTCTGCGGAGGGTGCTCTCGGCTCAGGGGTTCTGTCAGCAGCCAGTTAGGCCGCAGGGGCCGGGGAGCCACGGGGGGTAGCTGGGGAGGGGGTGTGCAGGCAATTCGGAGGGGGGTGAAGGCATCTACTGGCACGTCTTGTAGAGGGGGGATCCCTTTATGGGGGTGGCGAGGGGCAGAGGCACTTGGGGAGACCTTGAGGGCCCCAGCCGCTCCCTCAGCTCCCCATTATCTTCCTCTTCCGGGAAGCCGTTCACCGGCAGCAGGTAGAAGCCTCCGCGGCTGTCTGGGGAAGAGCGCCAAGGTCAGCTGCCCACTCCTCCCCTCTCCAGGACCCAGGCCTTGCTTTGGTTTGTGTGGGGCCTGTGAGAGCCAGGCCCGAGTTTGTTCAGGCACCACTGCAGTGCGGCCCACCCACCGGGGAGGCAGACAGACATGTTCTATTAGAATCGCTTATTTATTTATTTGAGATGGAATCTCACTCTGTTGCCCAGGCGTGGTGGCGCGATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCCGGAGTAGCTGGGATTACAGGCGTGCACCAAAAAGCCCAGGTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGTTGGTCTCTACTCCTCACCTCAAGCGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGAATTACATTTTAATGCTTCCTGCTGGAATCGTTACCGTTCTATTTTAATGTGTCTAAGAAAAAATACGACTAGCACACCAAACGTAATTTCTCAGAGGTTACTGCATAGAATGAGACTAGATTTTAAAAGTGAGTGGGTTTCAAACCAACTATTAAGTAATAGTACAGGTGGTGACCAGCAGATGTGATAAAATGGCTCTGGTGGACAAGAGCTTTCCTTCAGGGAACCACAATGTGCCTGGAAGCCACAACTGCCCCTAGTGGGGAAAGAAGTAGAAGGCCCATCCTCCTTTCCCTAATCTCCCCAGGGCTGTGCCCCTCCCTGGGCTCTGGGACTCTGACTGACCAGGCACGGGGGTGATAAGGTGACGCTTGGGTGGCGTGTCCTGCCGGGCTGGTCTCAAAGCAGGAGGCCGGACTGGTTGGAGAGATGAACAGGTCAGCGGCAAGGTACCCCGCCAGGCTCCGGGACGGAGGCAGCTCAAGGGGCTCGGCAATCTCTGCAGCCCTCTCCACCACGGGGTCCCATCCCCACCCCCAGCAGGGCTCAGGACCCAGAAGCCCCGCCCCCCACTGCTGACCTGCCCTGCTCTTGAGGGCCTCAAAAGCCTCCAGCTCCACAAGCATCACCATGCTGTCGAAGCGGCCCAGGTCTGTGGGGGCCACCACACTCCTGGGAGAGGGCGAGAGACAGCAGGGGTGGGAGGGGCAGGCAGGATTTCAGTTCCGGAGGTGCCAGGATGCCCTTCAGCCCTCGGGAGGTTGGGGGTGGTACCAGGGATCCCCTTCCTGCCCCCAAGCCCTCTCTGCAACCTCCTCCCACCTGATGTCCTGCAGCAGTAGCAGCTTCTCCGGCCTGTCGAGGATGGCCAGCAGGGGCCTCACCAGGTCCTCTATGCCTCCCTCGTGCACATACTGCAGATAGAGGCAGCACAGGTCAGACAGCAGTGGGGGCTTCCAGAGCTGAGTGAGGGGGACACCAGGGCATGCAGGTGTTTCTTCTACGCATGTAGGGACCTATCCAGCCCTGCGTGCCTTGGGAAAGGTTCACTCCACCCCCAGCTGCCACAGGGTGGTCTGATCTTGGTGACAGGGTGGAAGCCTGCAGTAATAACAGACCTGCAATAAATGGCAACAGCATCGATAACAGCTTTGGGACAGACACTTTTCTAAGCCTTTTACATACTGTCTCTCAGCAACCACCCTGAGAAATGGCATTAATTATTCCCGTTTTACAGATGCGGAAACAGGCTCAGAGAGAAGGACTTCACTCAAAGCCACACAGATAAGGAAGTGTGAAGAGGGACTGGAACCCGGGAAGTCTAACTCTTGCCTGCTCTGGTGCCGGAAAAGGATGTGCAGGGAGTGGACTCTCCTCCCCACCCCCACATCCCAGGCAGAAGGAAGGAATTTGAGCCAAACTCTAGGCTGTGTGCCTGGCTGTCCCAGCATATGTCTGCACACAGACCTACAAATTAGGCTTTGTTCGGGGCTAGAATAGGAN
pathogenic
167,069
For chromosome 10, position 101015592, gene PDZD7 (PDZ domain containing 7): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
benign
CAAAGGTGGTGTGGAAAAACGAGTAGATAGTGGTTTAAACGTGGCCATGGGGTCCATGAAGAGCCTCCCTGCAGGGCTGCTGCACAGGCTGTGACTATATGAGTAGCGTCTCTGAGGTTGTGCAGGTTGTAACCTGTATAAACCTATGCGGCGGCCGTGGGAAAGTGGAGGTTGGTGGGTTAGGGAGTTGAATCTGGGAGGACCTCGAATGTGAGAGCCAAAGACAATGGGTCACCTCTGCCAAAGACAATGGGTCACCAGGTGGCCTGGGGAGTGTACAGCGATCAGACAGGGGTTTCTTTTCTTTCTTTTTTTTTTTTTTTTGAGATGGATTTTCGCTCTTGTTCTCAGGTTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGGCGCCCACCACCATGCCCAGCTATTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGACAGGCTGGTCTCGAACTCCTGACTACAGGTGATCCGCTCACCTCGGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAACCAGACAGGGGTTTCTGATTCCTGGTCTGGCAGCTGTAGAGAGATGGCTCACATGGGGAGAGAAGGGAAGCCTGGAGTTCAGGGCTACATGCCCCAGTCACTAGGAGAACTTTACTCATCACTCCAGCCAGGGCTCCATCGCAGAGGGTCTGATCTCTTGGTGTGGGGGGCTTGGGTCAGGTTTGGGTGGTGGTTGAGCTCGGCAGGTGGTATGGGGGCACAAGTGGGAGGTTTGGGCAGAGGAGAAGGGAGGGATGAGGGAAAAGGAGCCTCCAAAGAGACAGACCCAGAGCCCCACCTCGTGGCCAAAGCCTGCATTGCCGGCCCACTGGAGGCTGGTACACGCTGCCCTACTTAGCGCTGGGAGCTAAGGGTGACACTTTCTGAGTTTAGCCCAAAGCCCCTTAGCTTCCCCCAGCACACACCCCTATCTGCAGCTCTGCTGCAAACCGGGCCTTGATAACAGGATGCATAAATGACCATGTCTCAGTCTCCAGGTGACAATGCATGGACACACACACACACACACACACACGCTAGCCAGACACGTGCTTGCTCACATGCACACACACACACACAATCATGCAGTCATATCAGTACAAACCAGGTACCCCACAGACACGCCAGTGCACACACCACACAGACATACAACACAGCCCCACTTTGAGTAAGATGAAGGGTGAGGGAATCCACAAACAATTTTTCAAGACCCCCCAGCTCGCCCTCACACACAGTGTGCAGACTCCTCACAAAGAGCCCAGTGTACACACACAGGCCTTCCTGAGACAGGGACAGGAGAGGACCTGCCAGTCCTGGAGTGAGTGACCTGTGCCCCACAGCCTCCCCAACAGGTGGGCCCCAGAGACTCCTTCAAATCTGACTCTCTCTCCACCCTGGGGCGCTCTGGTTCTTTTTGAAGTGGAAGAGAACAGAGAACGACAGTTTAGGTGTTGGGGGAGGCAAAGGATTACTTACTTGGGCAACAGGGGAGAGGACCTGGCATGAAGCCAGGCTTACTGGCTGACCTAGGAGCAGAGGGTGGCATGCAGTGAAGGATGGAGGCTTGCAGAGGGCAGAGGCAGGCGACTGCAGGGACTCACTTTCCCCACGTGGCACCTGTCCGCTCCTTCTCTTCTCAGCTTAAATATCACCTCCTCTAGGAGGGCCTCCCAGCCCACACCATCTAATGTGTGTCTCCTGGGTTACCGTCTCATGTTCTTTTTCTTCAGCTCTTCATGTGACTCATCACCATGGGCGTTTAGGTTCTAGTGATTTTCTAGCTCTTCTTCCTGTGAGCTGGCAGATGTGTGTGTGTGTGTGTGTGTGTGTGTGACAGGAGTGACTTCTGATTTTACTGACCACTAGCCTCCTGGTGTCAAGCCCAGACACTGGTCAGTGGACAGTGGCCTGAATGAATGATGGGCTGGGTGACTGAAGGACCGTGTGCCAGGGCTGCGGATGGGATGAAGGCTTACCCGGGAGCAGTGGCGGGTGACAGCCAGCACCTCGTCATCAGTCAGCAGCCTCTGGGCCAGGTCCTGAATGAGGGGCCGCCGGCTCTCCCAGGCCTGAACCTGCTCATCCACATTAGGCAGCTGGCTGGAGGGACTCCCAGACCTGGCAGACAGCAGGGCCCGGCCCCTCTCCTGGTCTGCAGGGCAGGAACCATCAGGGGAGGGGAGAGGGGCTTCCCTCAGCAGGGCTGGGCCCCAGAATTGGCCAGCTGAGAGCCCAGGTACCTGGGGCAGAATCCTAGCCTAGCCTATATGCTCCCCACCATGGTAGCCCACAGCAACCTGCCCACCAATGCAGCACAAACCCCAGCCCTCAGCCCCAACATGGACCCCTATACCAGTCTGTTTCTTAATGGGGTCTTAGCCCAGTGCCCCCAGGGCCCCCTGAACATGCACTGTCATAGTAGTCTGTTGCCCAGTGGAGGCCCAGCACAGGCTCCCTCATCACCCCCAAATATATCTTTGGGAGTCCCAACACAAGCTCCTAAAATGCATCCCAATATCTGTCTGCCACCCTATCTTTCCTAGTCAGCTTAGTCCAATTCTTTTAGCTGCCCCCAATACATACCATTCTAGCTGCCTGATCCCCCATGCTTGACCCTGACTGAATTTAGTCCAGAGCCACTCAGCTGGCCCCCAGTATGCACCCTCATCTGCCGCTCTACTGTAAACTAGGCCTTGGTAAAGGGATGCATGAATTACCACGTCTCAGTCTCCAGGTGACAAACTTCTGTACCGGGCCCACGCCCCCTGCTATGAAGAAGAAAGAGGCTCAGCTGCAGGCCTTGGCCCCCAGTCTGAAAATGGGGTTCAGGAGGGCTCAGGACAAGCTGGAATGGAGAATTCAGACTGGAAGTAGGTGGGATAGGGAGGCAAGAGGCCTGGCCCTGAGGGGCTTGAAGGCAATGCTCAGGCTATGGACTTCCTTCATAGGCAATGGGGAGTCAGGACGGTTTTGGATCAAAACAGGGTGCAGTCTGAGCACTGCTTATGCAAATTCACTTGGAAGCAAATGTATGGAGGGAAGAACCTCAGGGACAGAGCTTGGAGAAGTACCTACCTTCAGGGGACAGAGGGAAAAAGAGGAGCCTTGGAAGGAGATAGAGGAGTGGCCAGAGAGGTGGGAGGAGAACCAGCAGAGGGCAGGGACTTGGGAACTGTGGGAAGAGAGATGCACTGACGGAGAGGGGCCAGGCAGCCGTAATTGGAAGGGATTGTCTCTCCCATGGTACAATCACCTTGAGACCCCAGAACATCCCACCCCAGGGCAAAGCAGGGTCCAGCTCCTCATCCTCTGGTTGTTTTGTTGATCCGACATCCACCCCCCTCTTCTGAAAACAGCACCCTGATTTTCCCCTGGGGACCCACCCCACTCTGTTCTTAGCCCGTGTACTCCAGGGTGGGTACATGACCCAGGCTGGCCAACAAAAGCACTTTCCCTCCCACATCACAGCGATTTATTCTGCATGGCACAGGATCTCAGCTGGGCCAGGGAGAGCCTACCCTGGGACTTCAGCTGGAACTATTTAAGGAGAAGCACTTTCCCCTGGGGTTGCTATGCAATAGAGGTCATCTTACCCCCAGGTGGGCAAAGCCCCACAATAGCGAAGTCAACTCATGGGAGAGATGGAGGGGGACAGATGTCTGATGATGTTGCTCAGATGTTTAGACCCAGCTTAAATCAGCAGCTGAGCCAAGACGTGCTTTATTTTTCTTTTACTTTTTTTTTTTCTTTAGAGACAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGTGATCTTGCTGCTTCAGCTTCCAGAGTAGTTGGGATTGGCCAGGTGTGGTAGATCACGCTGTAATCCTAGCACTTTGGGAGACTAAGGCGGGTAGATAGCTTCAGTCCAGGAATTTGAGACTAGCCTGGGCAACAGGGTGAAACCCCCATCTCTACAAAAAGATGCAAAAAAATTA
CAAAGGTGGTGTGGAAAAACGAGTAGATAGTGGTTTAAACGTGGCCATGGGGTCCATGAAGAGCCTCCCTGCAGGGCTGCTGCACAGGCTGTGACTATATGAGTAGCGTCTCTGAGGTTGTGCAGGTTGTAACCTGTATAAACCTATGCGGCGGCCGTGGGAAAGTGGAGGTTGGTGGGTTAGGGAGTTGAATCTGGGAGGACCTCGAATGTGAGAGCCAAAGACAATGGGTCACCTCTGCCAAAGACAATGGGTCACCAGGTGGCCTGGGGAGTGTACAGCGATCAGACAGGGGTTTCTTTTCTTTCTTTTTTTTTTTTTTTTGAGATGGATTTTCGCTCTTGTTCTCAGGTTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGGCGCCCACCACCATGCCCAGCTATTTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGACAGGCTGGTCTCGAACTCCTGACTACAGGTGATCCGCTCACCTCGGCCACCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAACCAGACAGGGGTTTCTGATTCCTGGTCTGGCAGCTGTAGAGAGATGGCTCACATGGGGAGAGAAGGGAAGCCTGGAGTTCAGGGCTACATGCCCCAGTCACTAGGAGAACTTTACTCATCACTCCAGCCAGGGCTCCATCGCAGAGGGTCTGATCTCTTGGTGTGGGGGGCTTGGGTCAGGTTTGGGTGGTGGTTGAGCTCGGCAGGTGGTATGGGGGCACAAGTGGGAGGTTTGGGCAGAGGAGAAGGGAGGGATGAGGGAAAAGGAGCCTCCAAAGAGACAGACCCAGAGCCCCACCTCGTGGCCAAAGCCTGCATTGCCGGCCCACTGGAGGCTGGTACACGCTGCCCTACTTAGCGCTGGGAGCTAAGGGTGACACTTTCTGAGTTTAGCCCAAAGCCCCTTAGCTTCCCCCAGCACACACCCCTATCTGCAGCTCTGCTGCAAACCGGGCCTTGATAACAGGATGCATAAATGACCATGTCTCAGTCTCCAGGTGACAATGCATGGACACACACACACACACACACACACGCTAGCCAGACACGTGCTTGCTCACATGCACACACACACACACAATCATGCAGTCATATCAGTACAAACCAGGTACCCCACAGACACGCCAGTGCACACACCACACAGACATACAACACAGCCCCACTTTGAGTAAGATGAAGGGTGAGGGAATCCACAAACAATTTTTCAAGACCCCCCAGCTCGCCCTCACACACAGTGTGCAGACTCCTCACAAAGAGCCCAGTGTACACACACAGGCCTTCCTGAGACAGGGACAGGAGAGGACCTGCCAGTCCTGGAGTGAGTGACCTGTGCCCCACAGCCTCCCCAACAGGTGGGCCCCAGAGACTCCTTCAAATCTGACTCTCTCTCCACCCTGGGGCGCTCTGGTTCTTTTTGAAGTGGAAGAGAACAGAGAACGACAGTTTAGGTGTTGGGGGAGGCAAAGGATTACTTACTTGGGCAACAGGGGAGAGGACCTGGCATGAAGCCAGGCTTACTGGCTGACCTAGGAGCAGAGGGTGGCATGCAGTGAAGGATGGAGGCTTGCAGAGGGCAGAGGCAGGCGACTGCAGGGACTCACTTTCCCCACGTGGCACCTGTCCGCTCCTTCTCTTCTCAGCTTAAATATCACCTCCTCTAGGAGGGCCTCCCAGCCCACACCATCTAATGTGTGTCTCCTGGGTTACCGTCTCATGTTCTTTTTCTTCAGCTCTTCATGTGACTCATCACCATGGGCGTTTAGGTTCTAGTGATTTTCTAGCTCTTCTTCCTGTGAGCTGGCAGATGTGTGTGTGTGTGTGTGTGTGTGTGTGACAGGAGTGACTTCTGATTTTACTGACCACTAGCCTCCTGGTGTCAAGCCCAGACACTGGTCAGTGGACAGTGGCCTGAATGAATGATGGGCTGGGTGACGAAGGACCGTGTGCCAGGGCTGCGGATGGGATGAAGGCTTACCCGGGAGCAGTGGCGGGTGACAGCCAGCACCTCGTCATCAGTCAGCAGCCTCTGGGCCAGGTCCTGAATGAGGGGCCGCCGGCTCTCCCAGGCCTGAACCTGCTCATCCACATTAGGCAGCTGGCTGGAGGGACTCCCAGACCTGGCAGACAGCAGGGCCCGGCCCCTCTCCTGGTCTGCAGGGCAGGAACCATCAGGGGAGGGGAGAGGGGCTTCCCTCAGCAGGGCTGGGCCCCAGAATTGGCCAGCTGAGAGCCCAGGTACCTGGGGCAGAATCCTAGCCTAGCCTATATGCTCCCCACCATGGTAGCCCACAGCAACCTGCCCACCAATGCAGCACAAACCCCAGCCCTCAGCCCCAACATGGACCCCTATACCAGTCTGTTTCTTAATGGGGTCTTAGCCCAGTGCCCCCAGGGCCCCCTGAACATGCACTGTCATAGTAGTCTGTTGCCCAGTGGAGGCCCAGCACAGGCTCCCTCATCACCCCCAAATATATCTTTGGGAGTCCCAACACAAGCTCCTAAAATGCATCCCAATATCTGTCTGCCACCCTATCTTTCCTAGTCAGCTTAGTCCAATTCTTTTAGCTGCCCCCAATACATACCATTCTAGCTGCCTGATCCCCCATGCTTGACCCTGACTGAATTTAGTCCAGAGCCACTCAGCTGGCCCCCAGTATGCACCCTCATCTGCCGCTCTACTGTAAACTAGGCCTTGGTAAAGGGATGCATGAATTACCACGTCTCAGTCTCCAGGTGACAAACTTCTGTACCGGGCCCACGCCCCCTGCTATGAAGAAGAAAGAGGCTCAGCTGCAGGCCTTGGCCCCCAGTCTGAAAATGGGGTTCAGGAGGGCTCAGGACAAGCTGGAATGGAGAATTCAGACTGGAAGTAGGTGGGATAGGGAGGCAAGAGGCCTGGCCCTGAGGGGCTTGAAGGCAATGCTCAGGCTATGGACTTCCTTCATAGGCAATGGGGAGTCAGGACGGTTTTGGATCAAAACAGGGTGCAGTCTGAGCACTGCTTATGCAAATTCACTTGGAAGCAAATGTATGGAGGGAAGAACCTCAGGGACAGAGCTTGGAGAAGTACCTACCTTCAGGGGACAGAGGGAAAAAGAGGAGCCTTGGAAGGAGATAGAGGAGTGGCCAGAGAGGTGGGAGGAGAACCAGCAGAGGGCAGGGACTTGGGAACTGTGGGAAGAGAGATGCACTGACGGAGAGGGGCCAGGCAGCCGTAATTGGAAGGGATTGTCTCTCCCATGGTACAATCACCTTGAGACCCCAGAACATCCCACCCCAGGGCAAAGCAGGGTCCAGCTCCTCATCCTCTGGTTGTTTTGTTGATCCGACATCCACCCCCCTCTTCTGAAAACAGCACCCTGATTTTCCCCTGGGGACCCACCCCACTCTGTTCTTAGCCCGTGTACTCCAGGGTGGGTACATGACCCAGGCTGGCCAACAAAAGCACTTTCCCTCCCACATCACAGCGATTTATTCTGCATGGCACAGGATCTCAGCTGGGCCAGGGAGAGCCTACCCTGGGACTTCAGCTGGAACTATTTAAGGAGAAGCACTTTCCCCTGGGGTTGCTATGCAATAGAGGTCATCTTACCCCCAGGTGGGCAAAGCCCCACAATAGCGAAGTCAACTCATGGGAGAGATGGAGGGGGACAGATGTCTGATGATGTTGCTCAGATGTTTAGACCCAGCTTAAATCAGCAGCTGAGCCAAGACGTGCTTTATTTTTCTTTTACTTTTTTTTTTTCTTTAGAGACAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGTGATCTTGCTGCTTCAGCTTCCAGAGTAGTTGGGATTGGCCAGGTGTGGTAGATCACGCTGTAATCCTAGCACTTTGGGAGACTAAGGCGGGTAGATAGCTTCAGTCCAGGAATTTGAGACTAGCCTGGGCAACAGGGTGAAACCCCCATCTCTACAAAAAGATGCAAAAAAATTAN
benign
167,082
Gene PDZD7 (PDZ domain containing 7) variant at chromosome 10, position 101019032—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic
ATCCGACATCCACCCCCCTCTTCTGAAAACAGCACCCTGATTTTCCCCTGGGGACCCACCCCACTCTGTTCTTAGCCCGTGTACTCCAGGGTGGGTACATGACCCAGGCTGGCCAACAAAAGCACTTTCCCTCCCACATCACAGCGATTTATTCTGCATGGCACAGGATCTCAGCTGGGCCAGGGAGAGCCTACCCTGGGACTTCAGCTGGAACTATTTAAGGAGAAGCACTTTCCCCTGGGGTTGCTATGCAATAGAGGTCATCTTACCCCCAGGTGGGCAAAGCCCCACAATAGCGAAGTCAACTCATGGGAGAGATGGAGGGGGACAGATGTCTGATGATGTTGCTCAGATGTTTAGACCCAGCTTAAATCAGCAGCTGAGCCAAGACGTGCTTTATTTTTCTTTTACTTTTTTTTTTTCTTTAGAGACAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGTGATCTTGCTGCTTCAGCTTCCAGAGTAGTTGGGATTGGCCAGGTGTGGTAGATCACGCTGTAATCCTAGCACTTTGGGAGACTAAGGCGGGTAGATAGCTTCAGTCCAGGAATTTGAGACTAGCCTGGGCAACAGGGTGAAACCCCCATCTCTACAAAAAGATGCAAAAAAATTAGCTGAGCATGGTGATGCACACGTGTCATGCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCGTGGGAGGCGCAGGTCGCAGTGAGCTGAGATGGTGCCATTACACTCTCGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAGAAAGAAAAAGAAAGAAAGGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAAAGAAATAGGTATTATTACCCCCATTTTACTCATGAGGAAACTGAGGCTCTCAGGGGTTGAGTAGGGACTCAGCTGGTAAGACGCGGTGTGGGATCTCAACTCAGAACTGCTGAATGCCGAAGCTAGTGGACTTCACTTTGCCTTCCTGTTTGATCAGCCCACTACTTACCTTTCTCTATGTCCAGGCGAGGGTAAGTTTTGGCCAGGCTCCCGCTGTCCAGTGTCCAGGCCTCTCTGCGCCCGTCCCGCGCTAGCCTCCCCTGCCGCCCTCCCTTGAAGAAGAGGTTCATCAGCGTCTTGGAGCGCTGCAGGGCACCCTTCTCCCCAGGGGACCCCGACTTCTCCTTCTTCCGCTGCTGCTTCTCCTCTGCAGACACGAGGGAGCAACGGGGGAGCTGGAGGGGTGGGCAGAAGGGAAGGACGAGGGGCAGGGGTGTGGGGAGGGACAGAGAGAAGGGAGAGGAGAGGGCAGACAGGATCTGCAGCTACGCCGGGGTGAGAGTGCGGTTCCTCTTCCGACTTTCTGACCCTTTTCCCCACCGCACAGCTGTGGCTATGTAAGGAATCTCCCTTGAGGCCCAGTTAGAGAAGGGCACACATGCGTGCGTGTGTTTGAGCAACTGTGTGTGTAAATAGGCCTGGGAACTCCAGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGTCGGCTGAGGGCCAGCAGCAAAGCCGTCTTGGGAGACTCAGAGAGCGCAGAGTCAAGGCGGCGGCCGGGATGGGGGCCGTCCGAGCGGATGGCGGTGTCCCTGAGGATGACTGTGGGCCGCACGCTGCACCAGGTCTCCACCCGGCCTCCCGCATCGGGCTCCGTCTGCATGGCTGTGTCCGCCCGCCCCCAGCCTGGGCCGCGGCTGCCGGGCTCCTCCTGCCCGAGGCAGATGTCCATGCGGTCCGACGGCAGGGAGCCCGAGCTGTAGGGGGCGCTGGAGGCGCACGAAGAGACGCTGGAGCTGCTCTCAGAGGCCGGGGACAGCTGCTGCAGCACCCCGTTGCTCACTGCAGGGAGTAGAGAAGCCAGGGATCAGCGGGCTTGCTTCAGAGCCCTGCCCGGCTTGCAGACCACCCTTGGGCTTAGGGGTGGAGGAGGCAAGGTCAGGCAGCAGCCAGGGTTAGAACCGCAGTGGTGAGGAACCCGCTGCTCCGAAATGCTGCCACTGACCTAAGGCATGTCACTTCTCAAATCACCCACTGGGACTCCAGACCCTAGGAGAGCCTGCATTTTATCCGCAGATTCTCAGAGGGGAGCCCAGAAATAGCTCTGGACTGTGTGAAGGGTCTTGGTTCCTGTGCTTTTCTGCTTCCCCTTCTGCTTCTGCTTCTGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTTCTTCTTCTTCTTTTTTTTTTCTTTGAGACAGTCTCATTCTATGGCCCTGACTGGAGTGCAGTGATGTGATCTCGGTTCACTGCAACCTCTACTTCCTGAGTTCAAGCGATTCTTGTGCCTCAGCTTCCCAAGTAGCTGGTATGACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAGCACCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTTTTGGGATTATAGGCATAAGCCACCGCGCCAGGCTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCCACAGCTCACCACAGCCTCAAACTCCTGGGCTCAGGCAATCTTCCCACCTCAGCCTCCCAAGTAGCACAGACCACAGGCCCTCACCACCACTCCAGTTAATTTTTAAATTATTATTATTATTATTATTATTTTGAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGCAATGGCATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGGGCCACCACGCCCAGCTACTTTGTATTTTTAGTAAAGACTGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATCGCGGCCGGCTTAAATTATTATTTGTAGAGACGAGGTCTACCTATATGGCCAAGACTGGTCTTGAACTCCTGTACTCAAGCGATCCTCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTAAGCCACCAAGCCTGGCCCTTTTCTTCTTCAGAGAGCCGGGCCCCACCCTAAGGCCTCAGCCCTTTCCCTCCAACCTTGGGAGATCTGAGCCACTTACGTCGGTCCAGCCAGCAGTACTCAGAAACCATCTCCTTGTAGGCAGGATACCGGCCGGTCTCCTGGGGAGGGGATGGTGGGCATAGGAGGGAAGGGGGAGCAGTGAGGAGGGAGAGTGAGAATGGGGCGGGGGTGACAGGATGGGAGTAAACTTTCAACTTCATTTCTGTCCTCCAAATTCATCATGCTCTGGCCGCACAGGCCACTTTCTTTCTGAACGTGCCAAGTTCCTTTTTGCACTTGCTGTTCACTCTGCCTGGAGGCAGCCCTGACCCTGAGATACAGGGGCCTTCCTGAATTACTCCATTCCATCTCTCTGTTAATTTCCTTAGAGCATTTGTCACTATCTGCAAGCATCTAGTTTATTGGTCTGTCTCCCTCCAGTAGCAGAGAACTTATCTGTCCTGTTCACTGTTGCAGCCCCAGTACCTGGCACAGTGGCCGGCACATAGTGGGTGCTCAA
ATCCGACATCCACCCCCCTCTTCTGAAAACAGCACCCTGATTTTCCCCTGGGGACCCACCCCACTCTGTTCTTAGCCCGTGTACTCCAGGGTGGGTACATGACCCAGGCTGGCCAACAAAAGCACTTTCCCTCCCACATCACAGCGATTTATTCTGCATGGCACAGGATCTCAGCTGGGCCAGGGAGAGCCTACCCTGGGACTTCAGCTGGAACTATTTAAGGAGAAGCACTTTCCCCTGGGGTTGCTATGCAATAGAGGTCATCTTACCCCCAGGTGGGCAAAGCCCCACAATAGCGAAGTCAACTCATGGGAGAGATGGAGGGGGACAGATGTCTGATGATGTTGCTCAGATGTTTAGACCCAGCTTAAATCAGCAGCTGAGCCAAGACGTGCTTTATTTTTCTTTTACTTTTTTTTTTTCTTTAGAGACAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGTGATCTTGCTGCTTCAGCTTCCAGAGTAGTTGGGATTGGCCAGGTGTGGTAGATCACGCTGTAATCCTAGCACTTTGGGAGACTAAGGCGGGTAGATAGCTTCAGTCCAGGAATTTGAGACTAGCCTGGGCAACAGGGTGAAACCCCCATCTCTACAAAAAGATGCAAAAAAATTAGCTGAGCATGGTGATGCACACGTGTCATGCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCGTGGGAGGCGCAGGTCGCAGTGAGCTGAGATGGTGCCATTACACTCTCGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAGAAAGAAAAAGAAAGAAAGGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAAAGAAATAGGTATTATTACCCCCATTTTACTCATGAGGAAACTGAGGCTCTCAGGGGTTGAGTAGGGACTCAGCTGGTAAGACGCGGTGTGGGATCTCAACTCAGAACTGCTGAATGCCGAAGCTAGTGGACTTCACTTTGCCTTCCTGTTTGATCAGCCCACTACTTACCTTTCTCTATGTCCAGGCGAGGGTAAGTTTTGGCCAGGCTCCCGCTGTCCAGTGTCCAGGCCTCTCTGCGCCCGTCCCGCGCTAGCCTCCCCTGCCGCCCTCCCTTGAAGAAGAGGTTCATCAGCGTCTTGGAGCGCTGCAGGGCACCCTTCTCCCCAGGGGACCCCGACTTCTCCTTCTTCCGCTGCTGCTTCTCCTCTGCAGACACGAGGGAGCAACGGGGGAGCTGGAGGGGTGGGCAGAAGGGAAGGACGAGGGGCAGGGGTGTGGGGAGGGACAGAGAGAAGGGAGAGGAGAGGGCAGACAGGATCTGCAGCTACGCCGGGGTGAGAGTGCGGTTCCTCTTCCGACTTTCTGACCCTTTTCCCCACCGCACAGCTGTGGCTATGTAAGGAATCTCCCTTGAGGCCCAGTTAGAGAAGGGCACACATGCGTGCGTGTGTTTGAGCAACTGTGTGTGTAAATAGGCCTGGGAACTCCAGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGTCGGCTGAGGGCCAGCAGCAAAGCCGTCTTGGGAGACTCAGAGAGCGCAGAGTCAAGGCGGCGGCCGGGATGGGGGCCGTCCGAGCGGATGGCGGTGTCCCTGAGGATGACTGTGGGCCGCACGCTGCACCAGGTCTCCACCCGGCCTCCCGCATCGGGCTCCGTTGCATGGCTGTGTCCGCCCGCCCCCAGCCTGGGCCGCGGCTGCCGGGCTCCTCCTGCCCGAGGCAGATGTCCATGCGGTCCGACGGCAGGGAGCCCGAGCTGTAGGGGGCGCTGGAGGCGCACGAAGAGACGCTGGAGCTGCTCTCAGAGGCCGGGGACAGCTGCTGCAGCACCCCGTTGCTCACTGCAGGGAGTAGAGAAGCCAGGGATCAGCGGGCTTGCTTCAGAGCCCTGCCCGGCTTGCAGACCACCCTTGGGCTTAGGGGTGGAGGAGGCAAGGTCAGGCAGCAGCCAGGGTTAGAACCGCAGTGGTGAGGAACCCGCTGCTCCGAAATGCTGCCACTGACCTAAGGCATGTCACTTCTCAAATCACCCACTGGGACTCCAGACCCTAGGAGAGCCTGCATTTTATCCGCAGATTCTCAGAGGGGAGCCCAGAAATAGCTCTGGACTGTGTGAAGGGTCTTGGTTCCTGTGCTTTTCTGCTTCCCCTTCTGCTTCTGCTTCTGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTTCTTCTTCTTCTTTTTTTTTTCTTTGAGACAGTCTCATTCTATGGCCCTGACTGGAGTGCAGTGATGTGATCTCGGTTCACTGCAACCTCTACTTCCTGAGTTCAAGCGATTCTTGTGCCTCAGCTTCCCAAGTAGCTGGTATGACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAGCACCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTTTTGGGATTATAGGCATAAGCCACCGCGCCAGGCTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCCACAGCTCACCACAGCCTCAAACTCCTGGGCTCAGGCAATCTTCCCACCTCAGCCTCCCAAGTAGCACAGACCACAGGCCCTCACCACCACTCCAGTTAATTTTTAAATTATTATTATTATTATTATTATTTTGAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGCAATGGCATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGGGCCACCACGCCCAGCTACTTTGTATTTTTAGTAAAGACTGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATCGCGGCCGGCTTAAATTATTATTTGTAGAGACGAGGTCTACCTATATGGCCAAGACTGGTCTTGAACTCCTGTACTCAAGCGATCCTCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTAAGCCACCAAGCCTGGCCCTTTTCTTCTTCAGAGAGCCGGGCCCCACCCTAAGGCCTCAGCCCTTTCCCTCCAACCTTGGGAGATCTGAGCCACTTACGTCGGTCCAGCCAGCAGTACTCAGAAACCATCTCCTTGTAGGCAGGATACCGGCCGGTCTCCTGGGGAGGGGATGGTGGGCATAGGAGGGAAGGGGGAGCAGTGAGGAGGGAGAGTGAGAATGGGGCGGGGGTGACAGGATGGGAGTAAACTTTCAACTTCATTTCTGTCCTCCAAATTCATCATGCTCTGGCCGCACAGGCCACTTTCTTTCTGAACGTGCCAAGTTCCTTTTTGCACTTGCTGTTCACTCTGCCTGGAGGCAGCCCTGACCCTGAGATACAGGGGCCTTCCTGAATTACTCCATTCCATCTCTCTGTTAATTTCCTTAGAGCATTTGTCACTATCTGCAAGCATCTAGTTTATTGGTCTGTCTCCCTCCAGTAGCAGAGAACTTATCTGTCCTGTTCACTGTTGCAGCCCCAGTACCTGGCACAGTGGCCGGCACATAGTGGGTGCTCAAN
pathogenic
167,095
For chromosome 10, position 101019133, gene PDZD7 (PDZ domain containing 7): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Usher_syndrome_type_2A']
ACCCAGGCTGGCCAACAAAAGCACTTTCCCTCCCACATCACAGCGATTTATTCTGCATGGCACAGGATCTCAGCTGGGCCAGGGAGAGCCTACCCTGGGACTTCAGCTGGAACTATTTAAGGAGAAGCACTTTCCCCTGGGGTTGCTATGCAATAGAGGTCATCTTACCCCCAGGTGGGCAAAGCCCCACAATAGCGAAGTCAACTCATGGGAGAGATGGAGGGGGACAGATGTCTGATGATGTTGCTCAGATGTTTAGACCCAGCTTAAATCAGCAGCTGAGCCAAGACGTGCTTTATTTTTCTTTTACTTTTTTTTTTTCTTTAGAGACAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGTGATCTTGCTGCTTCAGCTTCCAGAGTAGTTGGGATTGGCCAGGTGTGGTAGATCACGCTGTAATCCTAGCACTTTGGGAGACTAAGGCGGGTAGATAGCTTCAGTCCAGGAATTTGAGACTAGCCTGGGCAACAGGGTGAAACCCCCATCTCTACAAAAAGATGCAAAAAAATTAGCTGAGCATGGTGATGCACACGTGTCATGCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCGTGGGAGGCGCAGGTCGCAGTGAGCTGAGATGGTGCCATTACACTCTCGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAGAAAGAAAAAGAAAGAAAGGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAAAGAAATAGGTATTATTACCCCCATTTTACTCATGAGGAAACTGAGGCTCTCAGGGGTTGAGTAGGGACTCAGCTGGTAAGACGCGGTGTGGGATCTCAACTCAGAACTGCTGAATGCCGAAGCTAGTGGACTTCACTTTGCCTTCCTGTTTGATCAGCCCACTACTTACCTTTCTCTATGTCCAGGCGAGGGTAAGTTTTGGCCAGGCTCCCGCTGTCCAGTGTCCAGGCCTCTCTGCGCCCGTCCCGCGCTAGCCTCCCCTGCCGCCCTCCCTTGAAGAAGAGGTTCATCAGCGTCTTGGAGCGCTGCAGGGCACCCTTCTCCCCAGGGGACCCCGACTTCTCCTTCTTCCGCTGCTGCTTCTCCTCTGCAGACACGAGGGAGCAACGGGGGAGCTGGAGGGGTGGGCAGAAGGGAAGGACGAGGGGCAGGGGTGTGGGGAGGGACAGAGAGAAGGGAGAGGAGAGGGCAGACAGGATCTGCAGCTACGCCGGGGTGAGAGTGCGGTTCCTCTTCCGACTTTCTGACCCTTTTCCCCACCGCACAGCTGTGGCTATGTAAGGAATCTCCCTTGAGGCCCAGTTAGAGAAGGGCACACATGCGTGCGTGTGTTTGAGCAACTGTGTGTGTAAATAGGCCTGGGAACTCCAGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGTCGGCTGAGGGCCAGCAGCAAAGCCGTCTTGGGAGACTCAGAGAGCGCAGAGTCAAGGCGGCGGCCGGGATGGGGGCCGTCCGAGCGGATGGCGGTGTCCCTGAGGATGACTGTGGGCCGCACGCTGCACCAGGTCTCCACCCGGCCTCCCGCATCGGGCTCCGTCTGCATGGCTGTGTCCGCCCGCCCCCAGCCTGGGCCGCGGCTGCCGGGCTCCTCCTGCCCGAGGCAGATGTCCATGCGGTCCGACGGCAGGGAGCCCGAGCTGTAGGGGGCGCTGGAGGCGCACGAAGAGACGCTGGAGCTGCTCTCAGAGGCCGGGGACAGCTGCTGCAGCACCCCGTTGCTCACTGCAGGGAGTAGAGAAGCCAGGGATCAGCGGGCTTGCTTCAGAGCCCTGCCCGGCTTGCAGACCACCCTTGGGCTTAGGGGTGGAGGAGGCAAGGTCAGGCAGCAGCCAGGGTTAGAACCGCAGTGGTGAGGAACCCGCTGCTCCGAAATGCTGCCACTGACCTAAGGCATGTCACTTCTCAAATCACCCACTGGGACTCCAGACCCTAGGAGAGCCTGCATTTTATCCGCAGATTCTCAGAGGGGAGCCCAGAAATAGCTCTGGACTGTGTGAAGGGTCTTGGTTCCTGTGCTTTTCTGCTTCCCCTTCTGCTTCTGCTTCTGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTTCTTCTTCTTCTTTTTTTTTTCTTTGAGACAGTCTCATTCTATGGCCCTGACTGGAGTGCAGTGATGTGATCTCGGTTCACTGCAACCTCTACTTCCTGAGTTCAAGCGATTCTTGTGCCTCAGCTTCCCAAGTAGCTGGTATGACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAGCACCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTTTTGGGATTATAGGCATAAGCCACCGCGCCAGGCTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCCACAGCTCACCACAGCCTCAAACTCCTGGGCTCAGGCAATCTTCCCACCTCAGCCTCCCAAGTAGCACAGACCACAGGCCCTCACCACCACTCCAGTTAATTTTTAAATTATTATTATTATTATTATTATTTTGAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGCAATGGCATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGGGCCACCACGCCCAGCTACTTTGTATTTTTAGTAAAGACTGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATCGCGGCCGGCTTAAATTATTATTTGTAGAGACGAGGTCTACCTATATGGCCAAGACTGGTCTTGAACTCCTGTACTCAAGCGATCCTCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTAAGCCACCAAGCCTGGCCCTTTTCTTCTTCAGAGAGCCGGGCCCCACCCTAAGGCCTCAGCCCTTTCCCTCCAACCTTGGGAGATCTGAGCCACTTACGTCGGTCCAGCCAGCAGTACTCAGAAACCATCTCCTTGTAGGCAGGATACCGGCCGGTCTCCTGGGGAGGGGATGGTGGGCATAGGAGGGAAGGGGGAGCAGTGAGGAGGGAGAGTGAGAATGGGGCGGGGGTGACAGGATGGGAGTAAACTTTCAACTTCATTTCTGTCCTCCAAATTCATCATGCTCTGGCCGCACAGGCCACTTTCTTTCTGAACGTGCCAAGTTCCTTTTTGCACTTGCTGTTCACTCTGCCTGGAGGCAGCCCTGACCCTGAGATACAGGGGCCTTCCTGAATTACTCCATTCCATCTCTCTGTTAATTTCCTTAGAGCATTTGTCACTATCTGCAAGCATCTAGTTTATTGGTCTGTCTCCCTCCAGTAGCAGAGAACTTATCTGTCCTGTTCACTGTTGCAGCCCCAGTACCTGGCACAGTGGCCGGCACATAGTGGGTGCTCAAAAATATTGTTGAATGAATGAGGGGCAGAGTGGGAGTGAGGAAAGATGTTTGGGATAATCTGAGAGGAAGGAAAAGGAAAAATGGGATGGGGGAGAGGTAGA
ACCCAGGCTGGCCAACAAAAGCACTTTCCCTCCCACATCACAGCGATTTATTCTGCATGGCACAGGATCTCAGCTGGGCCAGGGAGAGCCTACCCTGGGACTTCAGCTGGAACTATTTAAGGAGAAGCACTTTCCCCTGGGGTTGCTATGCAATAGAGGTCATCTTACCCCCAGGTGGGCAAAGCCCCACAATAGCGAAGTCAACTCATGGGAGAGATGGAGGGGGACAGATGTCTGATGATGTTGCTCAGATGTTTAGACCCAGCTTAAATCAGCAGCTGAGCCAAGACGTGCTTTATTTTTCTTTTACTTTTTTTTTTTCTTTAGAGACAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTAAACTCCTGGGCTCAAGTGATCTTGCTGCTTCAGCTTCCAGAGTAGTTGGGATTGGCCAGGTGTGGTAGATCACGCTGTAATCCTAGCACTTTGGGAGACTAAGGCGGGTAGATAGCTTCAGTCCAGGAATTTGAGACTAGCCTGGGCAACAGGGTGAAACCCCCATCTCTACAAAAAGATGCAAAAAAATTAGCTGAGCATGGTGATGCACACGTGTCATGCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCGTGGGAGGCGCAGGTCGCAGTGAGCTGAGATGGTGCCATTACACTCTCGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAGAAAGAAAAAGAAAGAAAGGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAAAGAAATAGGTATTATTACCCCCATTTTACTCATGAGGAAACTGAGGCTCTCAGGGGTTGAGTAGGGACTCAGCTGGTAAGACGCGGTGTGGGATCTCAACTCAGAACTGCTGAATGCCGAAGCTAGTGGACTTCACTTTGCCTTCCTGTTTGATCAGCCCACTACTTACCTTTCTCTATGTCCAGGCGAGGGTAAGTTTTGGCCAGGCTCCCGCTGTCCAGTGTCCAGGCCTCTCTGCGCCCGTCCCGCGCTAGCCTCCCCTGCCGCCCTCCCTTGAAGAAGAGGTTCATCAGCGTCTTGGAGCGCTGCAGGGCACCCTTCTCCCCAGGGGACCCCGACTTCTCCTTCTTCCGCTGCTGCTTCTCCTCTGCAGACACGAGGGAGCAACGGGGGAGCTGGAGGGGTGGGCAGAAGGGAAGGACGAGGGGCAGGGGTGTGGGGAGGGACAGAGAGAAGGGAGAGGAGAGGGCAGACAGGATCTGCAGCTACGCCGGGGTGAGAGTGCGGTTCCTCTTCCGACTTTCTGACCCTTTTCCCCACCGCACAGCTGTGGCTATGTAAGGAATCTCCCTTGAGGCCCAGTTAGAGAAGGGCACACATGCGTGCGTGTGTTTGAGCAACTGTGTGTGTAAATAGGCCTGGGAACTCCAGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGTCGGCTGAGGGCCAGCAGCAAAGCCGTCTTGGGAGACTCAGAGAGCGCAGAGTCAAGGCGGCGGCCGGGATGGGGGCCGTCCGAGCGGATGGCGGTGTCCCTGAGGATGACTGTGGGCCGCACGCTGCACCAGGTCTCCACCCGGCCTCCCGCATCGGGCTCCGTCTGCATGGCTGTGTCCGCCCGCCCCCAGCCTGGGCCGCGGCTGCCGGGCTCCTCCTGCCCGAGGCAGATGTCCATGCGGTCCGACGGCAGGGAGCCCGAGCGTAGGGGGCGCTGGAGGCGCACGAAGAGACGCTGGAGCTGCTCTCAGAGGCCGGGGACAGCTGCTGCAGCACCCCGTTGCTCACTGCAGGGAGTAGAGAAGCCAGGGATCAGCGGGCTTGCTTCAGAGCCCTGCCCGGCTTGCAGACCACCCTTGGGCTTAGGGGTGGAGGAGGCAAGGTCAGGCAGCAGCCAGGGTTAGAACCGCAGTGGTGAGGAACCCGCTGCTCCGAAATGCTGCCACTGACCTAAGGCATGTCACTTCTCAAATCACCCACTGGGACTCCAGACCCTAGGAGAGCCTGCATTTTATCCGCAGATTCTCAGAGGGGAGCCCAGAAATAGCTCTGGACTGTGTGAAGGGTCTTGGTTCCTGTGCTTTTCTGCTTCCCCTTCTGCTTCTGCTTCTGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTTCTTCTTCTTCTTTTTTTTTTCTTTGAGACAGTCTCATTCTATGGCCCTGACTGGAGTGCAGTGATGTGATCTCGGTTCACTGCAACCTCTACTTCCTGAGTTCAAGCGATTCTTGTGCCTCAGCTTCCCAAGTAGCTGGTATGACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAGCACCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTTTTGGGATTATAGGCATAAGCCACCGCGCCAGGCTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCCACAGCTCACCACAGCCTCAAACTCCTGGGCTCAGGCAATCTTCCCACCTCAGCCTCCCAAGTAGCACAGACCACAGGCCCTCACCACCACTCCAGTTAATTTTTAAATTATTATTATTATTATTATTATTTTGAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGCAATGGCATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGGGCCACCACGCCCAGCTACTTTGTATTTTTAGTAAAGACTGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATCGCGGCCGGCTTAAATTATTATTTGTAGAGACGAGGTCTACCTATATGGCCAAGACTGGTCTTGAACTCCTGTACTCAAGCGATCCTCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTAAGCCACCAAGCCTGGCCCTTTTCTTCTTCAGAGAGCCGGGCCCCACCCTAAGGCCTCAGCCCTTTCCCTCCAACCTTGGGAGATCTGAGCCACTTACGTCGGTCCAGCCAGCAGTACTCAGAAACCATCTCCTTGTAGGCAGGATACCGGCCGGTCTCCTGGGGAGGGGATGGTGGGCATAGGAGGGAAGGGGGAGCAGTGAGGAGGGAGAGTGAGAATGGGGCGGGGGTGACAGGATGGGAGTAAACTTTCAACTTCATTTCTGTCCTCCAAATTCATCATGCTCTGGCCGCACAGGCCACTTTCTTTCTGAACGTGCCAAGTTCCTTTTTGCACTTGCTGTTCACTCTGCCTGGAGGCAGCCCTGACCCTGAGATACAGGGGCCTTCCTGAATTACTCCATTCCATCTCTCTGTTAATTTCCTTAGAGCATTTGTCACTATCTGCAAGCATCTAGTTTATTGGTCTGTCTCCCTCCAGTAGCAGAGAACTTATCTGTCCTGTTCACTGTTGCAGCCCCAGTACCTGGCACAGTGGCCGGCACATAGTGGGTGCTCAAAAATATTGTTGAATGAATGAGGGGCAGAGTGGGAGTGAGGAAAGATGTTTGGGATAATCTGAGAGGAAGGAAAAGGAAAAATGGGATGGGGGAGAGGTAGAN
pathogenic
167,097
Classify the chromosome 10 variant at position 101020597 affecting gene PDZD7 (PDZ domain containing 7) as benign or pathogenic. If pathogenic, which disease(s) is associated?
benign
ACTGTGTGTGTAAATAGGCCTGGGAACTCCAGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGTCGGCTGAGGGCCAGCAGCAAAGCCGTCTTGGGAGACTCAGAGAGCGCAGAGTCAAGGCGGCGGCCGGGATGGGGGCCGTCCGAGCGGATGGCGGTGTCCCTGAGGATGACTGTGGGCCGCACGCTGCACCAGGTCTCCACCCGGCCTCCCGCATCGGGCTCCGTCTGCATGGCTGTGTCCGCCCGCCCCCAGCCTGGGCCGCGGCTGCCGGGCTCCTCCTGCCCGAGGCAGATGTCCATGCGGTCCGACGGCAGGGAGCCCGAGCTGTAGGGGGCGCTGGAGGCGCACGAAGAGACGCTGGAGCTGCTCTCAGAGGCCGGGGACAGCTGCTGCAGCACCCCGTTGCTCACTGCAGGGAGTAGAGAAGCCAGGGATCAGCGGGCTTGCTTCAGAGCCCTGCCCGGCTTGCAGACCACCCTTGGGCTTAGGGGTGGAGGAGGCAAGGTCAGGCAGCAGCCAGGGTTAGAACCGCAGTGGTGAGGAACCCGCTGCTCCGAAATGCTGCCACTGACCTAAGGCATGTCACTTCTCAAATCACCCACTGGGACTCCAGACCCTAGGAGAGCCTGCATTTTATCCGCAGATTCTCAGAGGGGAGCCCAGAAATAGCTCTGGACTGTGTGAAGGGTCTTGGTTCCTGTGCTTTTCTGCTTCCCCTTCTGCTTCTGCTTCTGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTTCTTCTTCTTCTTTTTTTTTTCTTTGAGACAGTCTCATTCTATGGCCCTGACTGGAGTGCAGTGATGTGATCTCGGTTCACTGCAACCTCTACTTCCTGAGTTCAAGCGATTCTTGTGCCTCAGCTTCCCAAGTAGCTGGTATGACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAGCACCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTTTTGGGATTATAGGCATAAGCCACCGCGCCAGGCTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCCACAGCTCACCACAGCCTCAAACTCCTGGGCTCAGGCAATCTTCCCACCTCAGCCTCCCAAGTAGCACAGACCACAGGCCCTCACCACCACTCCAGTTAATTTTTAAATTATTATTATTATTATTATTATTTTGAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGCAATGGCATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGGGCCACCACGCCCAGCTACTTTGTATTTTTAGTAAAGACTGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATCGCGGCCGGCTTAAATTATTATTTGTAGAGACGAGGTCTACCTATATGGCCAAGACTGGTCTTGAACTCCTGTACTCAAGCGATCCTCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTAAGCCACCAAGCCTGGCCCTTTTCTTCTTCAGAGAGCCGGGCCCCACCCTAAGGCCTCAGCCCTTTCCCTCCAACCTTGGGAGATCTGAGCCACTTACGTCGGTCCAGCCAGCAGTACTCAGAAACCATCTCCTTGTAGGCAGGATACCGGCCGGTCTCCTGGGGAGGGGATGGTGGGCATAGGAGGGAAGGGGGAGCAGTGAGGAGGGAGAGTGAGAATGGGGCGGGGGTGACAGGATGGGAGTAAACTTTCAACTTCATTTCTGTCCTCCAAATTCATCATGCTCTGGCCGCACAGGCCACTTTCTTTCTGAACGTGCCAAGTTCCTTTTTGCACTTGCTGTTCACTCTGCCTGGAGGCAGCCCTGACCCTGAGATACAGGGGCCTTCCTGAATTACTCCATTCCATCTCTCTGTTAATTTCCTTAGAGCATTTGTCACTATCTGCAAGCATCTAGTTTATTGGTCTGTCTCCCTCCAGTAGCAGAGAACTTATCTGTCCTGTTCACTGTTGCAGCCCCAGTACCTGGCACAGTGGCCGGCACATAGTGGGTGCTCAAAAATATTGTTGAATGAATGAGGGGCAGAGTGGGAGTGAGGAAAGATGTTTGGGATAATCTGAGAGGAAGGAAAAGGAAAAATGGGATGGGGGAGAGGTAGAAATTGGCGGGGGAAGGCGGCAGAGGAGGCACCCAGTGAAGCCTTCACCCCAAGTGAAGGCTTAGGGAAGCAGAAAGGTAGAGCAGGGGCCAGGGCTGGGCACCAGGGGAGAGTGAGGTGGCATCCTCCAGGAGCCGGAATGAGAAGACCTGATCCTCAGACAAGTGTGAGACCCACATGAATAATGAATCCAGCCACCTCCCGTGAAATCCAACCTCTGGCCCCAGCCCAGCCCTCCTAGCTGTATGCCCTGGGGATGCCCATCACCCAGGTCCTGTCCAAACCGCAGCCACCACCCCTCCCTTCTGGGCAAGACATTTGTTCCTTTCAACCCTAGGCCTCCACCCTTCATAAGAAGGGGGCACCACTCTAGCACTGTGGGGAGCAGGACTGGAACCAAGCCCAGCCACTGACCAGCTGAGTAAGTGACCTGTTCGTGAGTTGCTGTGCCTCTCTAAACCTGTTTCTTCTTCTTCAAAACAGGGATGAGAACAATGCCTGTCTACCTTCTAGTGGCTGTGGGAACGTCATAAATTGCAGAGCATTATTAAGAACTAGGGTGGTCTGGGAAGCCCCTACTCTAGCCTCACCTCTCCCTACCCCCACTGTTCTGCCCACCTTGATGGTCAGCATGATGTGCGTTTGGCCCTTCAGCACCTCCACGGCCTGGCTGTGGCTGATGTCGTCAAACCTGACACCGTTGGCTGCCAGGACCTGGTCCCCCACCTTGATGCCATTCTCCTCGGCCAGCCCACCATGGTCCACTCTGAGGCCAGACAGGCGTCAGTCTGATAGGCCCCTGGCCTGCCCTCCGTTACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAGCCCAGGCAGAAGTCGTCGGAGGTTGTGTATAGGTGGACGATGCGCCGGACACCATCTTCTGAGCTGGTGTCGGAGGGTGTTGAACCGCACTTCTCCACTACCAGGCGCCGATTCACCACATCCACCCTGGACAACAGCAGGGGGCCCTCAGGTGGGGTCCTCCATCCACTGCCACCCACCACCCTCCCAGCAGTTCTGACAACTGCAGGGAAAGTGGGGGTTGCCTTTGGGGGACTCCCCAGGCCTGAGACCTGCAGTGGGGCATAGGTTCATTAGCTGGGAAACCAGCCTAATTGCCTCTTTTTATTGAGCAGCTGCAATGTGCCAGGACCATTCCTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCCACCCATGCTG
ACTGTGTGTGTAAATAGGCCTGGGAACTCCAGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGTCGGCTGAGGGCCAGCAGCAAAGCCGTCTTGGGAGACTCAGAGAGCGCAGAGTCAAGGCGGCGGCCGGGATGGGGGCCGTCCGAGCGGATGGCGGTGTCCCTGAGGATGACTGTGGGCCGCACGCTGCACCAGGTCTCCACCCGGCCTCCCGCATCGGGCTCCGTCTGCATGGCTGTGTCCGCCCGCCCCCAGCCTGGGCCGCGGCTGCCGGGCTCCTCCTGCCCGAGGCAGATGTCCATGCGGTCCGACGGCAGGGAGCCCGAGCTGTAGGGGGCGCTGGAGGCGCACGAAGAGACGCTGGAGCTGCTCTCAGAGGCCGGGGACAGCTGCTGCAGCACCCCGTTGCTCACTGCAGGGAGTAGAGAAGCCAGGGATCAGCGGGCTTGCTTCAGAGCCCTGCCCGGCTTGCAGACCACCCTTGGGCTTAGGGGTGGAGGAGGCAAGGTCAGGCAGCAGCCAGGGTTAGAACCGCAGTGGTGAGGAACCCGCTGCTCCGAAATGCTGCCACTGACCTAAGGCATGTCACTTCTCAAATCACCCACTGGGACTCCAGACCCTAGGAGAGCCTGCATTTTATCCGCAGATTCTCAGAGGGGAGCCCAGAAATAGCTCTGGACTGTGTGAAGGGTCTTGGTTCCTGTGCTTTTCTGCTTCCCCTTCTGCTTCTGCTTCTGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTTCTTCTTCTTCTTTTTTTTTTCTTTGAGACAGTCTCATTCTATGGCCCTGACTGGAGTGCAGTGATGTGATCTCGGTTCACTGCAACCTCTACTTCCTGAGTTCAAGCGATTCTTGTGCCTCAGCTTCCCAAGTAGCTGGTATGACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAGCACCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTTTTGGGATTATAGGCATAAGCCACCGCGCCAGGCTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCCACAGCTCACCACAGCCTCAAACTCCTGGGCTCAGGCAATCTTCCCACCTCAGCCTCCCAAGTAGCACAGACCACAGGCCCTCACCACCACTCCAGTTAATTTTTAAATTATTATTATTATTATTATTATTTTGAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGCAATGGCATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGGGCCACCACGCCCAGCTACTTTGTATTTTTAGTAAAGACTGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATCGCGGCCGGCTTAAATTATTATTTGTAGAGACGAGGTCTACCTATATGGCCAAGACTGGTCTTGAACTCCTGTACTCAAGCGATCCTCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTAAGCCACCAAGCCTGGCCCTTTTCTTCTTCAGAGAGCCGGGCCCCACCCTAAGGCCTCAGCCCTTTCCCTCCAACCTTGGAGATCTGAGCCACTTACGTCGGTCCAGCCAGCAGTACTCAGAAACCATCTCCTTGTAGGCAGGATACCGGCCGGTCTCCTGGGGAGGGGATGGTGGGCATAGGAGGGAAGGGGGAGCAGTGAGGAGGGAGAGTGAGAATGGGGCGGGGGTGACAGGATGGGAGTAAACTTTCAACTTCATTTCTGTCCTCCAAATTCATCATGCTCTGGCCGCACAGGCCACTTTCTTTCTGAACGTGCCAAGTTCCTTTTTGCACTTGCTGTTCACTCTGCCTGGAGGCAGCCCTGACCCTGAGATACAGGGGCCTTCCTGAATTACTCCATTCCATCTCTCTGTTAATTTCCTTAGAGCATTTGTCACTATCTGCAAGCATCTAGTTTATTGGTCTGTCTCCCTCCAGTAGCAGAGAACTTATCTGTCCTGTTCACTGTTGCAGCCCCAGTACCTGGCACAGTGGCCGGCACATAGTGGGTGCTCAAAAATATTGTTGAATGAATGAGGGGCAGAGTGGGAGTGAGGAAAGATGTTTGGGATAATCTGAGAGGAAGGAAAAGGAAAAATGGGATGGGGGAGAGGTAGAAATTGGCGGGGGAAGGCGGCAGAGGAGGCACCCAGTGAAGCCTTCACCCCAAGTGAAGGCTTAGGGAAGCAGAAAGGTAGAGCAGGGGCCAGGGCTGGGCACCAGGGGAGAGTGAGGTGGCATCCTCCAGGAGCCGGAATGAGAAGACCTGATCCTCAGACAAGTGTGAGACCCACATGAATAATGAATCCAGCCACCTCCCGTGAAATCCAACCTCTGGCCCCAGCCCAGCCCTCCTAGCTGTATGCCCTGGGGATGCCCATCACCCAGGTCCTGTCCAAACCGCAGCCACCACCCCTCCCTTCTGGGCAAGACATTTGTTCCTTTCAACCCTAGGCCTCCACCCTTCATAAGAAGGGGGCACCACTCTAGCACTGTGGGGAGCAGGACTGGAACCAAGCCCAGCCACTGACCAGCTGAGTAAGTGACCTGTTCGTGAGTTGCTGTGCCTCTCTAAACCTGTTTCTTCTTCTTCAAAACAGGGATGAGAACAATGCCTGTCTACCTTCTAGTGGCTGTGGGAACGTCATAAATTGCAGAGCATTATTAAGAACTAGGGTGGTCTGGGAAGCCCCTACTCTAGCCTCACCTCTCCCTACCCCCACTGTTCTGCCCACCTTGATGGTCAGCATGATGTGCGTTTGGCCCTTCAGCACCTCCACGGCCTGGCTGTGGCTGATGTCGTCAAACCTGACACCGTTGGCTGCCAGGACCTGGTCCCCCACCTTGATGCCATTCTCCTCGGCCAGCCCACCATGGTCCACTCTGAGGCCAGACAGGCGTCAGTCTGATAGGCCCCTGGCCTGCCCTCCGTTACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAGCCCAGGCAGAAGTCGTCGGAGGTTGTGTATAGGTGGACGATGCGCCGGACACCATCTTCTGAGCTGGTGTCGGAGGGTGTTGAACCGCACTTCTCCACTACCAGGCGCCGATTCACCACATCCACCCTGGACAACAGCAGGGGGCCCTCAGGTGGGGTCCTCCATCCACTGCCACCCACCACCCTCCCAGCAGTTCTGACAACTGCAGGGAAAGTGGGGGTTGCCTTTGGGGGACTCCCCAGGCCTGAGACCTGCAGTGGGGCATAGGTTCATTAGCTGGGAAACCAGCCTAATTGCCTCTTTTTATTGAGCAGCTGCAATGTGCCAGGACCATTCCTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCCACCCATGCTGN
benign
167,106
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 101020627, gene PDZD7 (PDZ domain containing 7). What disease(s) is it linked to if pathogenic?
pathogenic; ['Hearing_loss,_autosomal_recessive_57']
AGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGTCGGCTGAGGGCCAGCAGCAAAGCCGTCTTGGGAGACTCAGAGAGCGCAGAGTCAAGGCGGCGGCCGGGATGGGGGCCGTCCGAGCGGATGGCGGTGTCCCTGAGGATGACTGTGGGCCGCACGCTGCACCAGGTCTCCACCCGGCCTCCCGCATCGGGCTCCGTCTGCATGGCTGTGTCCGCCCGCCCCCAGCCTGGGCCGCGGCTGCCGGGCTCCTCCTGCCCGAGGCAGATGTCCATGCGGTCCGACGGCAGGGAGCCCGAGCTGTAGGGGGCGCTGGAGGCGCACGAAGAGACGCTGGAGCTGCTCTCAGAGGCCGGGGACAGCTGCTGCAGCACCCCGTTGCTCACTGCAGGGAGTAGAGAAGCCAGGGATCAGCGGGCTTGCTTCAGAGCCCTGCCCGGCTTGCAGACCACCCTTGGGCTTAGGGGTGGAGGAGGCAAGGTCAGGCAGCAGCCAGGGTTAGAACCGCAGTGGTGAGGAACCCGCTGCTCCGAAATGCTGCCACTGACCTAAGGCATGTCACTTCTCAAATCACCCACTGGGACTCCAGACCCTAGGAGAGCCTGCATTTTATCCGCAGATTCTCAGAGGGGAGCCCAGAAATAGCTCTGGACTGTGTGAAGGGTCTTGGTTCCTGTGCTTTTCTGCTTCCCCTTCTGCTTCTGCTTCTGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTTCTTCTTCTTCTTTTTTTTTTCTTTGAGACAGTCTCATTCTATGGCCCTGACTGGAGTGCAGTGATGTGATCTCGGTTCACTGCAACCTCTACTTCCTGAGTTCAAGCGATTCTTGTGCCTCAGCTTCCCAAGTAGCTGGTATGACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAGCACCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTTTTGGGATTATAGGCATAAGCCACCGCGCCAGGCTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCCACAGCTCACCACAGCCTCAAACTCCTGGGCTCAGGCAATCTTCCCACCTCAGCCTCCCAAGTAGCACAGACCACAGGCCCTCACCACCACTCCAGTTAATTTTTAAATTATTATTATTATTATTATTATTTTGAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGCAATGGCATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGGGCCACCACGCCCAGCTACTTTGTATTTTTAGTAAAGACTGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATCGCGGCCGGCTTAAATTATTATTTGTAGAGACGAGGTCTACCTATATGGCCAAGACTGGTCTTGAACTCCTGTACTCAAGCGATCCTCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTAAGCCACCAAGCCTGGCCCTTTTCTTCTTCAGAGAGCCGGGCCCCACCCTAAGGCCTCAGCCCTTTCCCTCCAACCTTGGGAGATCTGAGCCACTTACGTCGGTCCAGCCAGCAGTACTCAGAAACCATCTCCTTGTAGGCAGGATACCGGCCGGTCTCCTGGGGAGGGGATGGTGGGCATAGGAGGGAAGGGGGAGCAGTGAGGAGGGAGAGTGAGAATGGGGCGGGGGTGACAGGATGGGAGTAAACTTTCAACTTCATTTCTGTCCTCCAAATTCATCATGCTCTGGCCGCACAGGCCACTTTCTTTCTGAACGTGCCAAGTTCCTTTTTGCACTTGCTGTTCACTCTGCCTGGAGGCAGCCCTGACCCTGAGATACAGGGGCCTTCCTGAATTACTCCATTCCATCTCTCTGTTAATTTCCTTAGAGCATTTGTCACTATCTGCAAGCATCTAGTTTATTGGTCTGTCTCCCTCCAGTAGCAGAGAACTTATCTGTCCTGTTCACTGTTGCAGCCCCAGTACCTGGCACAGTGGCCGGCACATAGTGGGTGCTCAAAAATATTGTTGAATGAATGAGGGGCAGAGTGGGAGTGAGGAAAGATGTTTGGGATAATCTGAGAGGAAGGAAAAGGAAAAATGGGATGGGGGAGAGGTAGAAATTGGCGGGGGAAGGCGGCAGAGGAGGCACCCAGTGAAGCCTTCACCCCAAGTGAAGGCTTAGGGAAGCAGAAAGGTAGAGCAGGGGCCAGGGCTGGGCACCAGGGGAGAGTGAGGTGGCATCCTCCAGGAGCCGGAATGAGAAGACCTGATCCTCAGACAAGTGTGAGACCCACATGAATAATGAATCCAGCCACCTCCCGTGAAATCCAACCTCTGGCCCCAGCCCAGCCCTCCTAGCTGTATGCCCTGGGGATGCCCATCACCCAGGTCCTGTCCAAACCGCAGCCACCACCCCTCCCTTCTGGGCAAGACATTTGTTCCTTTCAACCCTAGGCCTCCACCCTTCATAAGAAGGGGGCACCACTCTAGCACTGTGGGGAGCAGGACTGGAACCAAGCCCAGCCACTGACCAGCTGAGTAAGTGACCTGTTCGTGAGTTGCTGTGCCTCTCTAAACCTGTTTCTTCTTCTTCAAAACAGGGATGAGAACAATGCCTGTCTACCTTCTAGTGGCTGTGGGAACGTCATAAATTGCAGAGCATTATTAAGAACTAGGGTGGTCTGGGAAGCCCCTACTCTAGCCTCACCTCTCCCTACCCCCACTGTTCTGCCCACCTTGATGGTCAGCATGATGTGCGTTTGGCCCTTCAGCACCTCCACGGCCTGGCTGTGGCTGATGTCGTCAAACCTGACACCGTTGGCTGCCAGGACCTGGTCCCCCACCTTGATGCCATTCTCCTCGGCCAGCCCACCATGGTCCACTCTGAGGCCAGACAGGCGTCAGTCTGATAGGCCCCTGGCCTGCCCTCCGTTACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAGCCCAGGCAGAAGTCGTCGGAGGTTGTGTATAGGTGGACGATGCGCCGGACACCATCTTCTGAGCTGGTGTCGGAGGGTGTTGAACCGCACTTCTCCACTACCAGGCGCCGATTCACCACATCCACCCTGGACAACAGCAGGGGGCCCTCAGGTGGGGTCCTCCATCCACTGCCACCCACCACCCTCCCAGCAGTTCTGACAACTGCAGGGAAAGTGGGGGTTGCCTTTGGGGGACTCCCCAGGCCTGAGACCTGCAGTGGGGCATAGGTTCATTAGCTGGGAAACCAGCCTAATTGCCTCTTTTTATTGAGCAGCTGCAATGTGCCAGGACCATTCCTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCCACCCATGCTGGAGTGCAGTGGTGTGATCATGGCTCACTGC
AGGATCCAGGGGCTGGGGTTAGGGCTGGTTCGGGGAACAGGGGCTGAGACTAAGGGTGAATGTGGGGTCCAGGACTAATTTAAAGTGGAGCCCACAGCAGGGTCTGAGCAGCCTGGAGCTTGGGTTGGGCAAGGGCTTCGTCAAGGCCTGGGGCAAAGGGAGGTTTGAGCCCGGGACAGGATGTGAGACAGGTTTTGGACCAGAGGCTGTGGAGGGAGCAGCCGCCACCCATCCCCCACGTACCCCACAAGGTCAGATAGCTCTGGGAGCGCGTGATGGGGGGCCGGGGTCGGCTGAGGGCCAGCAGCAAAGCCGTCTTGGGAGACTCAGAGAGCGCAGAGTCAAGGCGGCGGCCGGGATGGGGGCCGTCCGAGCGGATGGCGGTGTCCCTGAGGATGACTGTGGGCCGCACGCTGCACCAGGTCTCCACCCGGCCTCCCGCATCGGGCTCCGTCTGCATGGCTGTGTCCGCCCGCCCCCAGCCTGGGCCGCGGCTGCCGGGCTCCTCCTGCCCGAGGCAGATGTCCATGCGGTCCGACGGCAGGGAGCCCGAGCTGTAGGGGGCGCTGGAGGCGCACGAAGAGACGCTGGAGCTGCTCTCAGAGGCCGGGGACAGCTGCTGCAGCACCCCGTTGCTCACTGCAGGGAGTAGAGAAGCCAGGGATCAGCGGGCTTGCTTCAGAGCCCTGCCCGGCTTGCAGACCACCCTTGGGCTTAGGGGTGGAGGAGGCAAGGTCAGGCAGCAGCCAGGGTTAGAACCGCAGTGGTGAGGAACCCGCTGCTCCGAAATGCTGCCACTGACCTAAGGCATGTCACTTCTCAAATCACCCACTGGGACTCCAGACCCTAGGAGAGCCTGCATTTTATCCGCAGATTCTCAGAGGGGAGCCCAGAAATAGCTCTGGACTGTGTGAAGGGTCTTGGTTCCTGTGCTTTTCTGCTTCCCCTTCTGCTTCTGCTTCTGCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTTCTTCTTCTTCTTTTTTTTTTCTTTGAGACAGTCTCATTCTATGGCCCTGACTGGAGTGCAGTGATGTGATCTCGGTTCACTGCAACCTCTACTTCCTGAGTTCAAGCGATTCTTGTGCCTCAGCTTCCCAAGTAGCTGGTATGACAGGTGCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCGAGCACCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTTTTGGGATTATAGGCATAAGCCACCGCGCCAGGCTTTTTTTTTTTTTTGAGACAGGCTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCCACAGCTCACCACAGCCTCAAACTCCTGGGCTCAGGCAATCTTCCCACCTCAGCCTCCCAAGTAGCACAGACCACAGGCCCTCACCACCACTCCAGTTAATTTTTAAATTATTATTATTATTATTATTATTTTGAGATGGAGTTTCACTCTTATTGCCCAGGCTGGAGTGCAATGGCATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGATTACAGGCATGGGCCACCACGCCCAGCTACTTTGTATTTTTAGTAAAGACTGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCATCGCGGCCGGCTTAAATTATTATTTGTAGAGACGAGGTCTACCTATATGGCCAAGACTGGTCTTGAACTCCTGTACTCAAGCGATCCTCCCACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTAAGCCACCAAGCCTGGCCCTTTTCTTCTTCAGAGAGCCGGGCCCCACCCTAAGGCCTCAGCCCTTTCCCTCCAACCTTGGGAGATCTGAGCCACTTACGTCGGTCCAGCCCAGCAGTACTCAGAAACCATCTCCTTGTAGGCAGGATACCGGCCGGTCTCCTGGGGAGGGGATGGTGGGCATAGGAGGGAAGGGGGAGCAGTGAGGAGGGAGAGTGAGAATGGGGCGGGGGTGACAGGATGGGAGTAAACTTTCAACTTCATTTCTGTCCTCCAAATTCATCATGCTCTGGCCGCACAGGCCACTTTCTTTCTGAACGTGCCAAGTTCCTTTTTGCACTTGCTGTTCACTCTGCCTGGAGGCAGCCCTGACCCTGAGATACAGGGGCCTTCCTGAATTACTCCATTCCATCTCTCTGTTAATTTCCTTAGAGCATTTGTCACTATCTGCAAGCATCTAGTTTATTGGTCTGTCTCCCTCCAGTAGCAGAGAACTTATCTGTCCTGTTCACTGTTGCAGCCCCAGTACCTGGCACAGTGGCCGGCACATAGTGGGTGCTCAAAAATATTGTTGAATGAATGAGGGGCAGAGTGGGAGTGAGGAAAGATGTTTGGGATAATCTGAGAGGAAGGAAAAGGAAAAATGGGATGGGGGAGAGGTAGAAATTGGCGGGGGAAGGCGGCAGAGGAGGCACCCAGTGAAGCCTTCACCCCAAGTGAAGGCTTAGGGAAGCAGAAAGGTAGAGCAGGGGCCAGGGCTGGGCACCAGGGGAGAGTGAGGTGGCATCCTCCAGGAGCCGGAATGAGAAGACCTGATCCTCAGACAAGTGTGAGACCCACATGAATAATGAATCCAGCCACCTCCCGTGAAATCCAACCTCTGGCCCCAGCCCAGCCCTCCTAGCTGTATGCCCTGGGGATGCCCATCACCCAGGTCCTGTCCAAACCGCAGCCACCACCCCTCCCTTCTGGGCAAGACATTTGTTCCTTTCAACCCTAGGCCTCCACCCTTCATAAGAAGGGGGCACCACTCTAGCACTGTGGGGAGCAGGACTGGAACCAAGCCCAGCCACTGACCAGCTGAGTAAGTGACCTGTTCGTGAGTTGCTGTGCCTCTCTAAACCTGTTTCTTCTTCTTCAAAACAGGGATGAGAACAATGCCTGTCTACCTTCTAGTGGCTGTGGGAACGTCATAAATTGCAGAGCATTATTAAGAACTAGGGTGGTCTGGGAAGCCCCTACTCTAGCCTCACCTCTCCCTACCCCCACTGTTCTGCCCACCTTGATGGTCAGCATGATGTGCGTTTGGCCCTTCAGCACCTCCACGGCCTGGCTGTGGCTGATGTCGTCAAACCTGACACCGTTGGCTGCCAGGACCTGGTCCCCCACCTTGATGCCATTCTCCTCGGCCAGCCCACCATGGTCCACTCTGAGGCCAGACAGGCGTCAGTCTGATAGGCCCCTGGCCTGCCCTCCGTTACCCCACTCCAGACCCCCTTCTCTTGGACACAAGACTGCACCAGTCAAGGTCCTTGACCCTCCTACTGGGGCCTCCCGCCCCCTCCCAGGCCCTCACTGAGACAGGTGGTTGGCCAGGCCTCACTTGCTGACCATCCCCACATCCCAGCCTAGGCCCCACTCCAGACCCCATTCTCAGTTCTACCCGAAGACACTTCCTGCCTCAGCCCTCACTTGGACACATAGATGCCCAGGCCAAACTCCTTGCCCCCACGGATGTTGAAGCCCAGGCAGAAGTCGTCGGAGGTTGTGTATAGGTGGACGATGCGCCGGACACCATCTTCTGAGCTGGTGTCGGAGGGTGTTGAACCGCACTTCTCCACTACCAGGCGCCGATTCACCACATCCACCCTGGACAACAGCAGGGGGCCCTCAGGTGGGGTCCTCCATCCACTGCCACCCACCACCCTCCCAGCAGTTCTGACAACTGCAGGGAAAGTGGGGGTTGCCTTTGGGGGACTCCCCAGGCCTGAGACCTGCAGTGGGGCATAGGTTCATTAGCTGGGAAACCAGCCTAATTGCCTCTTTTTATTGAGCAGCTGCAATGTGCCAGGACCATTCCTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTCCACCCATGCTGGAGTGCAGTGGTGTGATCATGGCTCACTG
pathogenic
167,108
Gene PDZD7 (PDZ domain containing 7) variant at chromosome position 101030053 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Hearing_loss,_autosomal_recessive', 'Hearing_loss,_autosomal_recessive_57', 'Usher_syndrome_type_2A', 'Usher_syndrome_type_2C']
GCAATGTCACCGTTTATTCCTTATCAGTTACTTTACTCCCCGGGAGTGATCTAAATAATAACATGGGGCAGGGTTCCAGGCTGCGGTGACTTGGGAGATACCTGTTCTCAGGCAGAGGGGAGAATTCTGAGCTCAGAGGGTCCCAGTCCAGTCAGAGGAGAAGCCAAGTGGTCAGAGCAACTCCTCAGTCCCTCACTGCTAGGAGATGCTGCTTCCTTGGCTGCACAGTGGCGCTAGCATGAGGCAGAGGGAGAAAGCAATCATGAAACCCCTGGAAGAGGATCTTTAGAGGGACAGTATAGGCCAGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCCGGAAGATCACTTGAGCCTAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACAAAAAATAAAATAAAATAAAATTAGCTGGGCTTGGTGTTGCATGCCTATAGTTCTGGCTACTCAGGAGGCTGAGGCTGGAGGATCACTTGAGCCCAGAAGTTTGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCTTGGGTGAGCGACAGAGCAAGACCCTTTCCCTCTTAAAAAAAAAAAAAAAGACGTTATAAACAGCGCTTGCATCATACATGGGCAAAGGGAAGGGGAGAGAGAGAGAAACAGAAAGAGTGTATCAGAGGGAGTATAGCATAGTTCTTTTAATAGAATGGGACTAATAAAGACAGTTATGCGGTGCCTGCTTCCCTTTTCCCCAATGTCTCCTAACTCCTCTGGGGACTTCTGCTCCCTCACCAGAATGACCGTGGTGACCCTCAGCAGTGCCCTGTGCTCACCAGAGGGTGAAGCATAGACTGGTGTATGACAGGGGTGAGCGTGCCAGGGCACTGGTGGAGGAAAGCCTGCTCCCTGAGCAACATGCCCCACCCTGCTCCAGTGGCCTAGGGAGGGGAAGAGAGATGCCCTGCTGGGTCAGAGGGGGAGGAGCAGGGCCTGAACAGTCCAGTCTGGGATCCAGCCAGGGGAGCTCTGCTGGCTAAGAAAGAGGAGAGGAGCTGGAGATATTTATCTGGTCCTGCTCACAGAAAGCTCAGACTCAGGGGGCCTGGCTCCGCACCTGGCATTCTAGGTCCTGTCTTGCTCATCAGCTGTTAGTCACCTCACATCTGTCACTACAGCCAGGCTGGCTCCTAAGTGCCCACCTACCATGCTCCATGCTTTTCACTTCCAGCCTTTGTTGGTGACAGCTCACCCCTGCCACCAGCTGTTCTTATTGCTCTGTCCTGCTACACTGTAGATTCCTGGAAGGTGAAGAGGGAGCCTGATTTCTCTCTAGGTCCCTTGTAACACCTCCCCAGGGCTGGTATAGAATTGTGCTCCATGAAGCGGCATTAAGCAACTACATAAGCTTAGGTCTCCCCTTCCCTGATGGAGCTCCCTCTCCACCCTCAACCCTCCTCTTCTGAACATTTGCTGTGCTGCCTTCATTCCCCTCCTTCAGCACGGAAGCCCTGAATTCTGTCTACCCGCTTGGGCACTGACTCCTCGCAGCCCAGCACAGAGCTTGTCACACAATGGACTGGTTGATGGAGGATGTCCTTCTTTATCCTGCCCCATCCCCCAGAAGTACACACAATGGATCTGGAGAAGGGCAGAGCCCATGGGAGAGAGGCCAGTTCAATCCCCTGCCTTGTCCACCAGGGGCTAGCATACCACACGCATGCCTGTCCCTGCTGCCATGGCCTTCTTTCCCTCCTCTGACCCTTCTACGACCCTGGACCCCTGCAGGATTGGCCTGGAGGAGAGGCCAAGGGCAGGTGAGGAAGAGTGTATGGGTTCCCAGGCGGCCTGCCACCTCCCTGTGACTCCCATCTCTTGAATTCCCCCAATCATACTGGCTCTGCCTCCTCCTGCTGAGTTCCCATTGTCCCCTACCCCCACCCTCCCCAACCCAGGCCAGTGGCTGGGTCCCGCCCCTACCTTCGATGGGGGAGTTGATGAGGATGACGCGTCCCATGGGCGATGAGGCTCGGATTCCGCGGGGGGGCCCGTTCAGCAGCCGTTGTTGCTTCCTTAGCAGGTATCGCGTTGCGGTGGAGCCTGAGTCGCTGCCTAGGTGGCCTCGGGAGGAGAGGGAGCTCAGAGAGCCGGAGCTCAGGTCTCCTAGGCCCAGTGGGTCGAAGCCCACTGCGAAACCCTGCGCCATGGCGGCTGGGCTAGGGCGGCACCCTACAGGTCCAGAAGGAATCTGCTAGCTCTGGAGAGGCCAGCCCTGCGTGCTTCGAGCTCCATGAGCCTCTGTGCGGGGCTGGGGTCTCAGTAACGTGAAGGCCCTCGCTTGCGATGCCTCTCAGAAGTGTGAGCTCCAGGCCTGGGCAGGGAGAGCAGGGATGAGGGAGGGGTGTAAATGTTTCCCCTGCTGCCCCCTAAAACTTCCACCCCTCCCCCTGGTTTAAGCATCCTGCCCTCCCATGCCTTAGGCCCCCCTCCTGTCTCACCCTAGGCCAGAGAACTGCCCCGTCCAGGCACCATCTTGGACTCTCGCTGACTTTATACAAGGCAGGTGGGAACCTTTCACCCCTCATTCCTGCTCGGGGCTGAGTCATCTACTCCCGTCCCCAGTCCTCAGTAGAGGTTGAGAGTGGAGTTGGGATTACTGCGGGCCCTGGGGCTTAGAGAGGTGTGAGACAAAAGAGAGGTCAGGACAGCTCATGGCATCACCTCTCTCATGCATATGCGGGCATGGAGGTGGCCCGGGGTGGGGCGGGGGCTGCGTGGGGCGGGCTGGGCCTCGAGGATAGGGCTTCAGGACCTTAGACAGCTGAGGCCCAGGAAGACCCCCAGACACCCGCGGGCTCCAGGCTGCGGCTCCGGGTCTAAAGAGGCTGCATGAACCTCTCCCAAGCTTTGGGGAGGATCTGCTGGAGAGGGGTCCCACGACATCCCGCGCAAAACCCAGGGCCAGTTCCCTCAGAGAAGCTCTGGGACCTAGAATGAAGCACCCCAACATCAACTCGGCCCTCCAGGCCCCCCACCCCTTTGTGCCTGGTCGGCCTCACCTGGTCGCTGGTGTGGCGCCGCCAGCCTTGTCAAACCACCCGCAGGCGAGAGCTACTGCCGCAGCCGGCAAACCCCACCCACGCTGCGCGGAGGCTGCGGGAATTGGGCTGGCCTGCACCGCCCCGGGCTCCCATTGGCTGGTAGGGCCGCCAGTCATTCTATTCCGGCACCTCCCTTAGGCGCCAGGGACAGCCGAGCGTTACCTGGTCCCGGGCAGCGGAGTTCTTTACCCACCCCAGTTCTGGTTCTGACGCCCTAGCTCATTCCGCAAATTTAGGGCTTGGGTCTGGCTTGTTCCCCTCCGGCTCGAACCACCTCTTCTCTGAGCCGAGCCAGCTACCGGGGCTCCTGGAATTGCCACCCCTCCCTGGGCACCCTTGAGGCCTCCGTGGAGGGACGTCACGGGGCAGAGCGGGACGTGAGCCTGAGTTTGCTGCAGGCGTGCTCTGTGTGGTGGCTGGGTGAGTTGTGAGTATGTGCGTGGCGGAGGGGGTGCCTTCTTCACTTGCATCCTCCTCCTCTGTCAGAAGGCGTCTCTGGCTACCCAGTTCTGGAATGGTCGCAGGGTGGGGCAGCTGGTCCCAGGACCGGAAGAATCCTAAGAATCCTTCTGATGCACTTGCTCGGATGCAGACCGCGAGGTTCCTGGGGTCGTCTGCCCCTCCACATCTCAGGGGTGGGGCTACGGTCTGGGGTGCAGGGCTAGGGGTTGGGAGCGTAAGGAGACCAGGGACACAGTGGAGCTAGGGGTTACAGAGGGGGAGCAGGGAGAGGGCTGGGGACATAGAAGAGGCACAGGCACGACAGGAACGGGGCTGTGAAGTGATGCGAATGCCGCGCTGCTACAAGAGGAGCTTGTGGATACTGGGGTAGGAGCCCAGGGGGACAAGCAAGCCAAAGGCCATTGCCAAGGCAGCCATCAAGTAAACAAGCCAGGCGGTAACCCGAGTCCCTCCCGGCGCGCCAGCAGAGGACCGCCCCTCCACACCGCCCACCTGCGCCCGGGGCTTTCTCTCTGGGCACCTAG
GCAATGTCACCGTTTATTCCTTATCAGTTACTTTACTCCCCGGGAGTGATCTAAATAATAACATGGGGCAGGGTTCCAGGCTGCGGTGACTTGGGAGATACCTGTTCTCAGGCAGAGGGGAGAATTCTGAGCTCAGAGGGTCCCAGTCCAGTCAGAGGAGAAGCCAAGTGGTCAGAGCAACTCCTCAGTCCCTCACTGCTAGGAGATGCTGCTTCCTTGGCTGCACAGTGGCGCTAGCATGAGGCAGAGGGAGAAAGCAATCATGAAACCCCTGGAAGAGGATCTTTAGAGGGACAGTATAGGCCAGGCATGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCCGGAAGATCACTTGAGCCTAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACTCTGTCTCTACAAAAAATAAAATAAAATAAAATTAGCTGGGCTTGGTGTTGCATGCCTATAGTTCTGGCTACTCAGGAGGCTGAGGCTGGAGGATCACTTGAGCCCAGAAGTTTGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCTTGGGTGAGCGACAGAGCAAGACCCTTTCCCTCTTAAAAAAAAAAAAAAAGACGTTATAAACAGCGCTTGCATCATACATGGGCAAAGGGAAGGGGAGAGAGAGAGAAACAGAAAGAGTGTATCAGAGGGAGTATAGCATAGTTCTTTTAATAGAATGGGACTAATAAAGACAGTTATGCGGTGCCTGCTTCCCTTTTCCCCAATGTCTCCTAACTCCTCTGGGGACTTCTGCTCCCTCACCAGAATGACCGTGGTGACCCTCAGCAGTGCCCTGTGCTCACCAGAGGGTGAAGCATAGACTGGTGTATGACAGGGGTGAGCGTGCCAGGGCACTGGTGGAGGAAAGCCTGCTCCCTGAGCAACATGCCCCACCCTGCTCCAGTGGCCTAGGGAGGGGAAGAGAGATGCCCTGCTGGGTCAGAGGGGGAGGAGCAGGGCCTGAACAGTCCAGTCTGGGATCCAGCCAGGGGAGCTCTGCTGGCTAAGAAAGAGGAGAGGAGCTGGAGATATTTATCTGGTCCTGCTCACAGAAAGCTCAGACTCAGGGGGCCTGGCTCCGCACCTGGCATTCTAGGTCCTGTCTTGCTCATCAGCTGTTAGTCACCTCACATCTGTCACTACAGCCAGGCTGGCTCCTAAGTGCCCACCTACCATGCTCCATGCTTTTCACTTCCAGCCTTTGTTGGTGACAGCTCACCCCTGCCACCAGCTGTTCTTATTGCTCTGTCCTGCTACACTGTAGATTCCTGGAAGGTGAAGAGGGAGCCTGATTTCTCTCTAGGTCCCTTGTAACACCTCCCCAGGGCTGGTATAGAATTGTGCTCCATGAAGCGGCATTAAGCAACTACATAAGCTTAGGTCTCCCCTTCCCTGATGGAGCTCCCTCTCCACCCTCAACCCTCCTCTTCTGAACATTTGCTGTGCTGCCTTCATTCCCCTCCTTCAGCACGGAAGCCCTGAATTCTGTCTACCCGCTTGGGCACTGACTCCTCGCAGCCCAGCACAGAGCTTGTCACACAATGGACTGGTTGATGGAGGATGTCCTTCTTTATCCTGCCCCATCCCCCAGAAGTACACACAATGGATCTGGAGAAGGGCAGAGCCCATGGGAGAGAGGCCAGTTCAATCCCCTGCCTTGTCCACCAGGGGCTAGCATACCACACGCATGCCTGTCCCTGCTGCCATGGCCTTCTTTCCCTCCTCTGACCCTTCTACGACCCTGGACCCCTGCAGGATTGGCCTGGAGGAGAGGCCAAGGGCAGGTGAGGAAGAGTGTATGGGTTCCCAGGCGGCCTGCCACCTCCCTGTGACTCCCATCTCTTGAATTCCCCCAATCATACTGGCTCTGCCTCCTCCTGCTGAGTTCCCATTGTCCCCTACCCCCACCCTCCCCAACCCAGGCCAGTGGCTGGGTCCCGCCCCTACCTTCGATGGGGGAGTTGATGAGGATGACGCGTCCCATGGGCGATGAGGCTCGGATTCCGCGGGGGGGGCCCGTTCAGCAGCCGTTGTTGCTTCCTTAGCAGGTATCGCGTTGCGGTGGAGCCTGAGTCGCTGCCTAGGTGGCCTCGGGAGGAGAGGGAGCTCAGAGAGCCGGAGCTCAGGTCTCCTAGGCCCAGTGGGTCGAAGCCCACTGCGAAACCCTGCGCCATGGCGGCTGGGCTAGGGCGGCACCCTACAGGTCCAGAAGGAATCTGCTAGCTCTGGAGAGGCCAGCCCTGCGTGCTTCGAGCTCCATGAGCCTCTGTGCGGGGCTGGGGTCTCAGTAACGTGAAGGCCCTCGCTTGCGATGCCTCTCAGAAGTGTGAGCTCCAGGCCTGGGCAGGGAGAGCAGGGATGAGGGAGGGGTGTAAATGTTTCCCCTGCTGCCCCCTAAAACTTCCACCCCTCCCCCTGGTTTAAGCATCCTGCCCTCCCATGCCTTAGGCCCCCCTCCTGTCTCACCCTAGGCCAGAGAACTGCCCCGTCCAGGCACCATCTTGGACTCTCGCTGACTTTATACAAGGCAGGTGGGAACCTTTCACCCCTCATTCCTGCTCGGGGCTGAGTCATCTACTCCCGTCCCCAGTCCTCAGTAGAGGTTGAGAGTGGAGTTGGGATTACTGCGGGCCCTGGGGCTTAGAGAGGTGTGAGACAAAAGAGAGGTCAGGACAGCTCATGGCATCACCTCTCTCATGCATATGCGGGCATGGAGGTGGCCCGGGGTGGGGCGGGGGCTGCGTGGGGCGGGCTGGGCCTCGAGGATAGGGCTTCAGGACCTTAGACAGCTGAGGCCCAGGAAGACCCCCAGACACCCGCGGGCTCCAGGCTGCGGCTCCGGGTCTAAAGAGGCTGCATGAACCTCTCCCAAGCTTTGGGGAGGATCTGCTGGAGAGGGGTCCCACGACATCCCGCGCAAAACCCAGGGCCAGTTCCCTCAGAGAAGCTCTGGGACCTAGAATGAAGCACCCCAACATCAACTCGGCCCTCCAGGCCCCCCACCCCTTTGTGCCTGGTCGGCCTCACCTGGTCGCTGGTGTGGCGCCGCCAGCCTTGTCAAACCACCCGCAGGCGAGAGCTACTGCCGCAGCCGGCAAACCCCACCCACGCTGCGCGGAGGCTGCGGGAATTGGGCTGGCCTGCACCGCCCCGGGCTCCCATTGGCTGGTAGGGCCGCCAGTCATTCTATTCCGGCACCTCCCTTAGGCGCCAGGGACAGCCGAGCGTTACCTGGTCCCGGGCAGCGGAGTTCTTTACCCACCCCAGTTCTGGTTCTGACGCCCTAGCTCATTCCGCAAATTTAGGGCTTGGGTCTGGCTTGTTCCCCTCCGGCTCGAACCACCTCTTCTCTGAGCCGAGCCAGCTACCGGGGCTCCTGGAATTGCCACCCCTCCCTGGGCACCCTTGAGGCCTCCGTGGAGGGACGTCACGGGGCAGAGCGGGACGTGAGCCTGAGTTTGCTGCAGGCGTGCTCTGTGTGGTGGCTGGGTGAGTTGTGAGTATGTGCGTGGCGGAGGGGGTGCCTTCTTCACTTGCATCCTCCTCCTCTGTCAGAAGGCGTCTCTGGCTACCCAGTTCTGGAATGGTCGCAGGGTGGGGCAGCTGGTCCCAGGACCGGAAGAATCCTAAGAATCCTTCTGATGCACTTGCTCGGATGCAGACCGCGAGGTTCCTGGGGTCGTCTGCCCCTCCACATCTCAGGGGTGGGGCTACGGTCTGGGGTGCAGGGCTAGGGGTTGGGAGCGTAAGGAGACCAGGGACACAGTGGAGCTAGGGGTTACAGAGGGGGAGCAGGGAGAGGGCTGGGGACATAGAAGAGGCACAGGCACGACAGGAACGGGGCTGTGAAGTGATGCGAATGCCGCGCTGCTACAAGAGGAGCTTGTGGATACTGGGGTAGGAGCCCAGGGGGACAAGCAAGCCAAAGGCCATTGCCAAGGCAGCCATCAAGTAAACAAGCCAGGCGGTAACCCGAGTCCCTCCCGGCGCGCCAGCAGAGGACCGCCCCTCCACACCGCCCACCTGCGCCCGGGGCTTTCTCTCTGGGCACCTA
pathogenic
167,122
The chromosome 10, position 101774750 genetic variant in gene FGF8 (fibroblast growth factor 8): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic
CAGGGGTTTGGGGCATCGAGGTCAGCAAGTCAGTCATCACTGCTCAGCTTGTAATGTTCCCCGCTTCACACAGGCTCAGTGCTGGGACCAGTGGCCAAGCCCCCGGTTTGGCCCCAAGTCAGCAGGGAAATGCAGCTGTCACCTCCCTGCCTGCCCACCTCCTCCTGGACCTAGCCAGTCTGCTCATCCCTCTCCCGCTCTGCCTTCCACAGCAAGAGGCAGCTATTTTTAAGGGCCAGGAAGGATGCTGACTGGAGGAGTGAGAGGATGCCACTCTGGGGATTCTGGCCAGATGCGGCAGGCAGGGATGAAGTAGGTGCCTCTGCATCTTCCTGGGGCCGGTAAAGAAGCCATTGAGACCTCTCTGCTATTCTCCCCGGACTACTCCTGTCCTGGCTGAACACCCTGAGCCTCTGTTCTTAGGGCCTCCAGCTCCTATCCTGCTGTGGGGCAGGGACTAGGGAAGGCGGGAAACCTCTTATATGGCCACGGAGAGAAGTGGACATCAGGCTTCCTCTGATGTCTGAAGATGAATTCCCCCACACCAGCTTGACTTCTGCTTCCCTCCCCGAAATCCAAGGATGCTGGGCCATTTGCTCTGACAGAGCAAACCCTGGAAGAGCCAGGCATTCGTCTCCTCTCCTTAGAAGCTGAGAAGGGCAGCAAGCAGCTAATTTGGAGGGACAAAGGGATGGTAGGCCTGCTCTGCCAGCCCAGTAGGGGAGCTCGGCCACCAGGCAGGCCGCCCCCACCCCCACCCCAGAAAGCCCGCTCTCTCCCATGTCGGTTGAATCTGCTCCGATCTGGGGAGCTGGGGCCGCAGTTTACGGCAGCTCTCCCGACCGGGCTTTTGGAAAGCTTAACATTTTCAAACCTATTCTTCCACCCCAGTGACAGATTTATCCCAGGAAAATTATGTCTCCTCCAGCTTTGAAGGGAAGTCAGCTACGTCGATGCAGAAAAAATGCAGCGAGACATACTCGATCCCCCAAACTGGCTCAAGAAGAGGAGAAAGTATTCAGGAAATGTTAAAAAAGGTGAAAGTAAGAAGAGTTTTAATCGCTCTGCCAGACGCAGGGGTCTCTCCAGAGATTCAGAGAGAACAATCTTGAACCTCTTTTTTAACATTTACAGACTTGCAACTCCTTTCAAACTCCACATCTGAAAAAAAGCTCGTTCTTTTTCTGTTTTATATCATTCTTCATTTTTCTTCTTAGCTCTTAAAATGCCTCACCTTTTTATTACATTTTAATAGAGTCTTCCCCTCTCCTTTCATGCTTGTTTAACGTGGTCATTATTTAAAGGTTTTTAAACTCACAATAATCGCTCTCTAAAAACAACACCAGCCGCCCAGAGGGCTTGCTTTTCTCTTGGTACATCCAGGACTCTGGAAATTGGCCCCGTTTCAAGGCAGGAATATTGAATGTTTTAGAAATCAATCAGTCCTCAGCCTCTCTGCCGGCAGTAGCTCTCCGCACTTGCCACCCCACAGGGAGCCGGGAGCCCTGCCCCAGCCGCCTGGGTTCCCCAGGGAATGGAGCAGGGAGAGCCCCCTTCCAAGCCCAGTTTCCACGTGTAAATTGACCCATCCGATTAAAGTATTTAAGGGTTCCCAGCAACCTCCTTTTCCAACTGGGAGAGTTGAGGGGATTTCTCTCCCTTCTCTTTCCCACTCTCCTTTTGTGGGCCCTGGCGACATATCCTCTTTCAAGCGCTTGCCTTAAACCTAGGCCCCCTCCCCCTGAACCCCCTGCCTCCACCTGCAGCTGGGGAGGAGTGTATGAAGGGGGGAGGTGTAAAGGGAGATTCCTAGATTCATTCATTTGCTGGGCAGGGAAGGGGGCACCTGTGGCCAAGTACTCCCCGAGGCCCCTTCCCTAGCCCTCTCTTCCCCAGCTGACCCTCAAGACACCTTTCTGCCTTAACTCCTTCCCTTCTGAGCTGGGGACCCTGCAGGCCCCCGGCCAGTGCAGTTGGGACTGGTGGTCCAGGCGCCGCGCATCCCACAAGCTACCTTCAGCGCGCCTTACCGAAGGGGTCGCCGTCCTCTGCCATGGCGTTGATGCGCTTGTTGGCCAGGACCTGCACGTGCTTCCCGCTGGTGCGGCTGTAGAGTTGGTAGGTCCGGATGAGGCGGCGGCTGAGCTGATCCGTCACCAGGCTCTGCTCCCTCACATGCTGTGTAAAATTAGGTGAGGACTGAACAGTTACCTTTAGGAAATTGAAAAATACACAATACACCATTATAATGCTACTCCGCCCAGGGGCCCGAGTGGCCCCATCACCCTGCGTCCCCCTCACTGCCCCAAGCCGCCAGCAGGTGCTGGGGGTTCCCCCAACATGCCAGCCCAGGCCACCATCCCCCACCCACGCAAGTCGGGCAGACCCAGCCCAGGATGAACGAGCCCCAGGGAGAAGCTGGACCCACCTGTTGGGAGACACCCTGGGGCTCCCGGCCAGCCCGGAACAGGGAAGCGAGCTCCCTGCCCAGCGCAGGGCCCCTGCCCGGGCCTTCCTAGAGGAGCAGGGCGCTTTTAAGTAGGGAGGCAGCCCTCCCCGACCCCTGACATTTATAAAGACAAATTTACGGAGCAAATGTTGAGAGTGCAGGGAACCTGGGCACCCGATCATTGGGCCAAATCGGCCACAAGCCTCCCCCGAGGGGCGCTGAGAGGGTCTCTGCTGCAGTCACCCGGCTTCCCCTGGCATCGAACATCCATCCCCTGGCCGCGGCTGCCCCCTTCCTCGGCGGCTGGGTGTTCCCTATGCCCCCAGCCGGCGAGGATGCATGGGGGACAGTGCTGGGCTCCGAGACCTTCGTTTCTATCCTGGCCACTCACTCGCTGTGTGACCTCAGGAGGGGTGCTACCTCTCTGTGCCTCAGCTCCCTCCTCGGGGTGGCTCGGGGCTGGGTTTCTAAGGTGCCCTCAGCCCTCCCGCGCCGGCCGCAGAGTCAGTCCCGGTGCCCCCGACCGGCGCTGCCCACCCGGGTCTCACACCGGCGCGCCCGGCCCCCGCCTCCGCGCACCCCTCCTCACCTGGGCTTGGAGGCAGAGGACCAGCAAGTGCAACAGCCTGTGGGAGACAAAAGCGGGCGGGAGAGAGAGGCGCGGGTGAGGCGAGGGGCGCGGGGGGCGGGTGGCGGGGCAGGGCGGCGCGGTACTCACAGGCAGCTCAGCGCGGAGCGGGGGCTGCCCATGGCGCGCGGCCCCGGGGCACCGAGAGCCCGGCGGGTCACGCCGTCCCGCGGGCCGCCGCGGGAGGACGCGCTGAGCAGGGCGCGAGCGGAGAGGGTGCGGGTGCGGGAGGCCGGCGGCGATCACGACGCGGCTCCGCGGGTCCCGTGGAACGTCGTGCTCGCCGCGCCGCACCGAATCGCTGTGCGCCGCTGCCGGAGCCGGTGGCCGCTGGCTGCTCGGGAGCCGGAGCGGGCGGGAGGGTCACGGGCTGGCGGGGTGGGTGGGGAGGTGGGAGGGCGGGGAGGGGTGGGGGCGGGGGGCGCCGCACCGGGCGCGAGGGGGGAGCGCGGGGCGGGCGGCGGGAGCCCGCAGCCCCCGGCTGGGAACTGGGGCCTGGATGCAGCCCGGGGCGGGGGCGGGGCGGCCGGGGAGGGGCGGCCGACGGGTTCGGGATTGAGGGTCTGGGCTAGGGGAGGGGTCTGGGGACCCGCGGGAGGGGCGGGGGCGGCCGGTCTGGGCGCCTCCCCCTATCCCCGGCCTGTCCCCTCGCGCGCTCCCCGGTCCCGGACGCGCGGGGATGGGGGCGCCTAGGGCTGCAAACTCTGCGGGCCGGGAGACCCCGAGCCTGGGCTTCCCCGACCGCCTGGAGCGCCCGAGTCTGGCGGGTCTGGGTCTCCGCCTCCGGGCCCAGCCGCTTCCGCCGCCGGCTACGCAGTGGTCTCCGAGCCACCTACTGTGTGTCCCGCCGGGCCCCTGGGAGCGGCCGCTAACCATGCAGCGAATGGCTGCGCACCCGGCCCTCGCGCAGTGCGTGCCGGTGCCACCCGGACCCCGCTCCCCTGTTTCGGCCGCGTGCCCCGTCCTGTCGGTCTCTCCAGTCTCCTTCACTCTCCCGAGGAGGCCCTGGGAGCCAGAAA
CAGGGGTTTGGGGCATCGAGGTCAGCAAGTCAGTCATCACTGCTCAGCTTGTAATGTTCCCCGCTTCACACAGGCTCAGTGCTGGGACCAGTGGCCAAGCCCCCGGTTTGGCCCCAAGTCAGCAGGGAAATGCAGCTGTCACCTCCCTGCCTGCCCACCTCCTCCTGGACCTAGCCAGTCTGCTCATCCCTCTCCCGCTCTGCCTTCCACAGCAAGAGGCAGCTATTTTTAAGGGCCAGGAAGGATGCTGACTGGAGGAGTGAGAGGATGCCACTCTGGGGATTCTGGCCAGATGCGGCAGGCAGGGATGAAGTAGGTGCCTCTGCATCTTCCTGGGGCCGGTAAAGAAGCCATTGAGACCTCTCTGCTATTCTCCCCGGACTACTCCTGTCCTGGCTGAACACCCTGAGCCTCTGTTCTTAGGGCCTCCAGCTCCTATCCTGCTGTGGGGCAGGGACTAGGGAAGGCGGGAAACCTCTTATATGGCCACGGAGAGAAGTGGACATCAGGCTTCCTCTGATGTCTGAAGATGAATTCCCCCACACCAGCTTGACTTCTGCTTCCCTCCCCGAAATCCAAGGATGCTGGGCCATTTGCTCTGACAGAGCAAACCCTGGAAGAGCCAGGCATTCGTCTCCTCTCCTTAGAAGCTGAGAAGGGCAGCAAGCAGCTAATTTGGAGGGACAAAGGGATGGTAGGCCTGCTCTGCCAGCCCAGTAGGGGAGCTCGGCCACCAGGCAGGCCGCCCCCACCCCCACCCCAGAAAGCCCGCTCTCTCCCATGTCGGTTGAATCTGCTCCGATCTGGGGAGCTGGGGCCGCAGTTTACGGCAGCTCTCCCGACCGGGCTTTTGGAAAGCTTAACATTTTCAAACCTATTCTTCCACCCCAGTGACAGATTTATCCCAGGAAAATTATGTCTCCTCCAGCTTTGAAGGGAAGTCAGCTACGTCGATGCAGAAAAAATGCAGCGAGACATACTCGATCCCCCAAACTGGCTCAAGAAGAGGAGAAAGTATTCAGGAAATGTTAAAAAAGGTGAAAGTAAGAAGAGTTTTAATCGCTCTGCCAGACGCAGGGGTCTCTCCAGAGATTCAGAGAGAACAATCTTGAACCTCTTTTTTAACATTTACAGACTTGCAACTCCTTTCAAACTCCACATCTGAAAAAAAGCTCGTTCTTTTTCTGTTTTATATCATTCTTCATTTTTCTTCTTAGCTCTTAAAATGCCTCACCTTTTTATTACATTTTAATAGAGTCTTCCCCTCTCCTTTCATGCTTGTTTAACGTGGTCATTATTTAAAGGTTTTTAAACTCACAATAATCGCTCTCTAAAAACAACACCAGCCGCCCAGAGGGCTTGCTTTTCTCTTGGTACATCCAGGACTCTGGAAATTGGCCCCGTTTCAAGGCAGGAATATTGAATGTTTTAGAAATCAATCAGTCCTCAGCCTCTCTGCCGGCAGTAGCTCTCCGCACTTGCCACCCCACAGGGAGCCGGGAGCCCTGCCCCAGCCGCCTGGGTTCCCCAGGGAATGGAGCAGGGAGAGCCCCCTTCCAAGCCCAGTTTCCACGTGTAAATTGACCCATCCGATTAAAGTATTTAAGGGTTCCCAGCAACCTCCTTTTCCAACTGGGAGAGTTGAGGGGATTTCTCTCCCTTCTCTTTCCCACTCTCCTTTTGTGGGCCCTGGCGACATATCCTCTTTCAAGCGCTTGCCTTAAACCTAGGCCCCCTCCCCCTGAACCCCCTGCCTCCACCTGCAGCTGGGGAGGAGTGTATGAAGGGGGGAGGTGTAAAGGGAGATTCCTAGATTCATTCATTTGCTGGGCAGGGAAGGGGGCACCTGTGGCCAAGTACTCCCCGAGGCCCCTTCCCTAGCCCTCTCTTCCCCAGCTGACCCTCAAGACACCTTTCTGCCTTAACTCCTTCCCTTCTGAGCTGGGGACCCTGCAGGCCCCCGGCCAGTGCAGTTGGGACTGGTGGTCCAGGCGCCGCGCATCCCACAAGCTACCTTCAGCGCGCCTTACCGAAGGGGTCGCCGTCCTCGCCATGGCGTTGATGCGCTTGTTGGCCAGGACCTGCACGTGCTTCCCGCTGGTGCGGCTGTAGAGTTGGTAGGTCCGGATGAGGCGGCGGCTGAGCTGATCCGTCACCAGGCTCTGCTCCCTCACATGCTGTGTAAAATTAGGTGAGGACTGAACAGTTACCTTTAGGAAATTGAAAAATACACAATACACCATTATAATGCTACTCCGCCCAGGGGCCCGAGTGGCCCCATCACCCTGCGTCCCCCTCACTGCCCCAAGCCGCCAGCAGGTGCTGGGGGTTCCCCCAACATGCCAGCCCAGGCCACCATCCCCCACCCACGCAAGTCGGGCAGACCCAGCCCAGGATGAACGAGCCCCAGGGAGAAGCTGGACCCACCTGTTGGGAGACACCCTGGGGCTCCCGGCCAGCCCGGAACAGGGAAGCGAGCTCCCTGCCCAGCGCAGGGCCCCTGCCCGGGCCTTCCTAGAGGAGCAGGGCGCTTTTAAGTAGGGAGGCAGCCCTCCCCGACCCCTGACATTTATAAAGACAAATTTACGGAGCAAATGTTGAGAGTGCAGGGAACCTGGGCACCCGATCATTGGGCCAAATCGGCCACAAGCCTCCCCCGAGGGGCGCTGAGAGGGTCTCTGCTGCAGTCACCCGGCTTCCCCTGGCATCGAACATCCATCCCCTGGCCGCGGCTGCCCCCTTCCTCGGCGGCTGGGTGTTCCCTATGCCCCCAGCCGGCGAGGATGCATGGGGGACAGTGCTGGGCTCCGAGACCTTCGTTTCTATCCTGGCCACTCACTCGCTGTGTGACCTCAGGAGGGGTGCTACCTCTCTGTGCCTCAGCTCCCTCCTCGGGGTGGCTCGGGGCTGGGTTTCTAAGGTGCCCTCAGCCCTCCCGCGCCGGCCGCAGAGTCAGTCCCGGTGCCCCCGACCGGCGCTGCCCACCCGGGTCTCACACCGGCGCGCCCGGCCCCCGCCTCCGCGCACCCCTCCTCACCTGGGCTTGGAGGCAGAGGACCAGCAAGTGCAACAGCCTGTGGGAGACAAAAGCGGGCGGGAGAGAGAGGCGCGGGTGAGGCGAGGGGCGCGGGGGGCGGGTGGCGGGGCAGGGCGGCGCGGTACTCACAGGCAGCTCAGCGCGGAGCGGGGGCTGCCCATGGCGCGCGGCCCCGGGGCACCGAGAGCCCGGCGGGTCACGCCGTCCCGCGGGCCGCCGCGGGAGGACGCGCTGAGCAGGGCGCGAGCGGAGAGGGTGCGGGTGCGGGAGGCCGGCGGCGATCACGACGCGGCTCCGCGGGTCCCGTGGAACGTCGTGCTCGCCGCGCCGCACCGAATCGCTGTGCGCCGCTGCCGGAGCCGGTGGCCGCTGGCTGCTCGGGAGCCGGAGCGGGCGGGAGGGTCACGGGCTGGCGGGGTGGGTGGGGAGGTGGGAGGGCGGGGAGGGGTGGGGGCGGGGGGCGCCGCACCGGGCGCGAGGGGGGAGCGCGGGGCGGGCGGCGGGAGCCCGCAGCCCCCGGCTGGGAACTGGGGCCTGGATGCAGCCCGGGGCGGGGGCGGGGCGGCCGGGGAGGGGCGGCCGACGGGTTCGGGATTGAGGGTCTGGGCTAGGGGAGGGGTCTGGGGACCCGCGGGAGGGGCGGGGGCGGCCGGTCTGGGCGCCTCCCCCTATCCCCGGCCTGTCCCCTCGCGCGCTCCCCGGTCCCGGACGCGCGGGGATGGGGGCGCCTAGGGCTGCAAACTCTGCGGGCCGGGAGACCCCGAGCCTGGGCTTCCCCGACCGCCTGGAGCGCCCGAGTCTGGCGGGTCTGGGTCTCCGCCTCCGGGCCCAGCCGCTTCCGCCGCCGGCTACGCAGTGGTCTCCGAGCCACCTACTGTGTGTCCCGCCGGGCCCCTGGGAGCGGCCGCTAACCATGCAGCGAATGGCTGCGCACCCGGCCCTCGCGCAGTGCGTGCCGGTGCCACCCGGACCCCGCTCCCCTGTTTCGGCCGCGTGCCCCGTCCTGTCGGTCTCTCCAGTCTCCTTCACTCTCCCGAGGAGGCCCTGGGAGCCAGAAAN
pathogenic
167,169
Benign or pathogenic: chromosome 10, position 102065500, gene HPS6 variant? Disease(s) if pathogenic?
pathogenic; ['Hermansky-Pudlak_syndrome_6']
GACCAGCCTGGCCAACCAACATAGCAAAACCCGACCTCTACTAAAAATATAAAAAGTAGCTGGGCATGGTGGTGCACTTCTGAAATCCCAGCTACTAGGGAGGGAGGCTTAGGCAGGAGAATCGCTTGAACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTT
GACCAGCCTGGCCAACCAACATAGCAAAACCCGACCTCTACTAAAAATATAAAAAGTAGCTGGGCATGGTGGTGCACTTCTGAAATCCCAGCTACTAGGGAGGGAGGCTTAGGCAGGAGAATCGCTTGAACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTN
pathogenic
167,176
A mutation at chromosome position 102065523 on chromosome 10 in gene HPS6: benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['HPS6-related_disorder', 'Hermansky-Pudlak_syndrome']
GCAAAACCCGACCTCTACTAAAAATATAAAAAGTAGCTGGGCATGGTGGTGCACTTCTGAAATCCCAGCTACTAGGGAGGGAGGCTTAGGCAGGAGAATCGCTTGAACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACT
GCAAAACCCGACCTCTACTAAAAATATAAAAAGTAGCTGGGCATGGTGGTGCACTTCTGAAATCCCAGCTACTAGGGAGGGAGGCTTAGGCAGGAGAATCGCTTGAACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCA
pathogenic
167,177
Is the genetic variant on chromosome 10, position 102065628, gene HPS6, benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_6']
AACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGG
AACCTGGGACATGGAGATAGCAGTGAGCCGAGATTGCGCCACTGCACTTCAACCTGGGCAACGGAGCAAGACTCTGTCTCAATAAATAAATAAATAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGN
pathogenic
167,181
Evaluate if the mutation on chromosome 10 at position 102065755 in HPS6 is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Hermansky-Pudlak_syndrome']
CAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGA
CAGCACTTTGGGAGGCCAAGGCATGTGGATCACGAGGTCAAGAGATCAAGACCATCCCGGCCAGCAAGGTGAAACCCTGTCTCTACTGAAAATACAAAAATTAGGTGGGCGTGGTGGTGGGTGCCTCTAATCCCAGCTACTCGGGAGGCTGGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGAN
pathogenic
167,183
Is the genetic variant on chromosome 10, position 102065939, gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Hermansky-Pudlak_syndrome_6']
GTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATC
GTTGCACTGAGCCAAGATGGTGCCACTTCACTCAAACGTGGGCGACAGAGTGAGACTCTATCTCAATCAATCAATCAATAAAGGATGGAGGAAGATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTG
pathogenic
167,186
Is the genetic change at chromosome 10, position 102066033, within gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Hermansky-Pudlak_syndrome_6']
ATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATG
ATGAACCAAAGGCAAATAAAACTCTGAAGGCAGTGCTATCTAAAAATAAAAATAAAAAAATAAAATAAAATAAAAGGAAAGGAAAACCAGCCAGGAAAGATGCAGTGCAAACCACAGGAGGGACTTTCAATGAGAAGGCTGTCAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCAACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGAT
pathogenic
167,188
Variant in gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3), located at chromosome 10 position 102066175: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['HPS6-related_disorder', 'Hermansky-Pudlak_syndrome']
CAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCA
CAAATAAAAATGTCCTTGAAGACCTCAGCAAAAGCTACTTCAGGGAAGTAGTGGGTTGAGGATAGAAGGAAAGAAAGTGGAGGTGGCAAATGTAGCATCCTTGCAAGAAAATTGACTGAGAAAGGAAAAGGGGAGGGAGTGATGGAGGTGGAAGTGGGGAGATGAGGATGAAAGAACGAATTCCAAGACAGGAGAGATGACAGGGTATTTCTATGCTGAGGACGGAATGAGGGCAGTGAAACAGAAATGGATGCAAGTTCTCAAGGAAGGTAGGGGCCGGGGAGGAGAGGCAGGGCTCATAAAGAGGGATTGGCCTTGGAGAGAGGAGGAAAACTGCTCACCTGAAAAGGCAGTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCANN
pathogenic
167,193
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 102066527, gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3). What disease(s) is it linked to if pathogenic?
pathogenic
GTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCATAACCCCAGTGGGGAAAGTACTGATGTTATTCCCATTTTACAGGAAATAGAAGTTTAGAAAAATTAAATGACTTGACCAAGTTCATTTGGCTAGAAAGTAGCACCTCAAAGATTGGAGCCACCTCACTGAACAGCCCAGTAGCTCCCACCTGCTTGGGCTTGGATGTACTCCCCATCCCTGGCTCCATGCCAGCTTCCCTGGCCTGCTAAGAGGAGGAGGACTACAGAGCTCCACCCTTCCTTTCCCCAGGACTCCTCTGCTCCGGAGTAGGAACTTTACTGGGCCCTGGGTCCTTGCCTGTCTCCACCAGGATTTCTGAAGCAGCTTCTAGTTTAGGGGAAGATTTGCCAC
GTCAAGGGGTGGAAGGACCCCTGCATACAAATTTGTAGGTGTTACTGAAGAGTCGGTACACAGGCTCAGTGCTTCTAAATTATGTTTCTCTGTTTTGGTTTGGGTGATGAGTTGTTGATATGATAAAGTGATTTGTTGCACTGACTCTGGAGCCAGAGTGCCTGTGGTTGAAATCCCACCTCCACCACTTAATACCTGCTTGATCTTAGTTAAGTTACGTAATCTCTCTGTGCTTCATCCTCCTTATCTGTAAAAGGGACTAGGGGATAGAGAAGGCTGTCACATAGTGATATGGAAGTGGTTTTCTTTCCTTCCTTCCTTCTCTCTCTCTCTCTTTCTTTCTTTCTGTCTTTTTAAAATTTTTATAGAGACAAGGTCTGCCTATGTTGCTCAGGCTGGTCTCGAACGCCTGGCCTCAAGCAATCCTCCCACCTCAGCCTCCCAAAGTGCTAAGATTATAGGCGTGAGCCACCGCGCCCAGCCATGTTTACTATTTCCACTAGATTGTCATCTCCATGAGGTTGAGGTTTTCTATTTTGTTTAGGGCTGTCTACTCAGAGCCTGGCACAAAGCATGTGCTCAACGAAAATTTCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCATAACCCCAGTGGGGAAAGTACTGATGTTATTCCCATTTTACAGGAAATAGAAGTTTAGAAAAATTAAATGACTTGACCAAGTTCATTTGGCTAGAAAGTAGCACCTCAAAGATTGGAGCCACCTCACTGAACAGCCCAGTAGCTCCCACCTGCTTGGGCTTGGATGTACTCCCCATCCCTGGCTCCATGCCAGCTTCCCTGGCCTGCTAAGAGGAGGAGGACTACAGAGCTCCACCCTTCCTTTCCCCAGGACTCCTCTGCTCCGGAGTAGGAACTTTACTGGGCCCTGGGTCCTTGCCTGTCTCCACCAGGATTTCTGAAGCAGCTTCTAGTTTAGGGGAAGATTTGCCACNN
pathogenic
167,197
Regarding the variant at chromosome 10 and position 102067118, affecting gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hermansky-Pudlak_syndrome']
TCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCATAACCCCAGTGGGGAAAGTACTGATGTTATTCCCATTTTACAGGAAATAGAAGTTTAGAAAAATTAAATGACTTGACCAAGTTCATTTGGCTAGAAAGTAGCACCTCAAAGATTGGAGCCACCTCACTGAACAGCCCAGTAGCTCCCACCTGCTTGGGCTTGGATGTACTCCCCATCCCTGGCTCCATGCCAGCTTCCCTGGCCTGCTAAGAGGAGGAGGACTACAGAGCTCCACCCTTCCTTTCCCCAGGACTCCTCTGCTCCGGAGTAGGAACTTTACTGGGCCCTGGGTCCTTGCCTGTCTCCACCAGGATTTCTGAAGCAGCTTCTAGTTTAGGGGAAGATTTGCCACAGACAGGAGAGCTGCCTGCAGAGCTCTCTGGCTCAGTAACAAAATTCACTGGGAGCAGAGCTATCTGGAGAGCCCCATATTCCTGCTGACTCTCCCAAGTCAAGAAATAAGAGCGTCTGCAACACAGATCTCTGCTTGTCTGGATGTATTCAACAGGCTCAACTCTGAAGAGGCCTTTGCCCCATGCTCACTTCTACCCAAGTAACCCCTCAGCCTAGCGTAGGATAGACCCCTGGTTCTAGCTTAGGTTAGGACCCTGGATGCAGCTACTCAGCATCATCCGCAGTCCCAGATACCCCTTGTCCAGGGTTGGGGCCAAGGTTAGGGCTGCTGCTCAGCTTTGTCCTCAGCTGGGACCTGCAGCTTAGATTCTGGTAGCCTTAACCTGGGCTTAAGGTGGACTCAGGCTAGGACTAGTGAGACTAGGGACAGTTCCTGTCTCTCAGGGGAGAGAAGTAGCTTACTTAGTCTTATCTGTGGCTGGTGTTAACTCTTCAGCCTCATAGAGGTCCTGAGGTGGCTCATCTACATGGCCAAGTCCTGAGGTACCATCTTGGCCTCCTCCAGAACTTGGATGGCCCTTGTCCTGGC
TCCTGAATGAGTAAATTGGGGTGAAATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCATAACCCCAGTGGGGAAAGTACTGATGTTATTCCCATTTTACAGGAAATAGAAGTTTAGAAAAATTAAATGACTTGACCAAGTTCATTTGGCTAGAAAGTAGCACCTCAAAGATTGGAGCCACCTCACTGAACAGCCCAGTAGCTCCCACCTGCTTGGGCTTGGATGTACTCCCCATCCCTGGCTCCATGCCAGCTTCCCTGGCCTGCTAAGAGGAGGAGGACTACAGAGCTCCACCCTTCCTTTCCCCAGGACTCCTCTGCTCCGGAGTAGGAACTTTACTGGGCCCTGGGTCCTTGCCTGTCTCCACCAGGATTTCTGAAGCAGCTTCTAGTTTAGGGGAAGATTTGCCACAGACAGGAGAGCTGCCTGCAGAGCTCTCTGGCTCAGTAACAAAATTCACTGGGAGCAGAGCTATCTGGAGAGCCCCATATTCCTGCTGACTCTCCCAAGTCAAGAAATAAGAGCGTCTGCAACACAGATCTCTGCTTGTCTGGATGTATTCAACAGGCTCAACTCTGAAGAGGCCTTTGCCCCATGCTCACTTCTACCCAAGTAACCCCTCAGCCTAGCGTAGGATAGACCCCTGGTTCTAGCTTAGGTTAGGACCCTGGATGCAGCTACTCAGCATCATCCGCAGTCCCAGATACCCCTTGTCCAGGGTTGGGGCCAAGGTTAGGGCTGCTGCTCAGCTTTGTCCTCAGCTGGGACCTGCAGCTTAGATTCTGGTAGCCTTAACCTGGGCTTAAGGTGGACTCAGGCTAGGACTAGTGAGACTAGGGACAGTTCCTGTCTCTCAGGGGAGAGAAGTAGCTTACTTAGTCTTATCTGTGGCTGGTGTTAACTCTTCAGCCTCATAGAGGTCCTGAGGTGGCTCATCTACATGGCCAAGTCCTGAGGTACCATCTTGGCCTCCTCCAGAACTTGGATGGCCCTTGTCCTGGCN
pathogenic
167,204
Assess the variant on chromosome 10, position 102067142, impacting HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Hermansky-Pudlak_syndrome_6']
AATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCATAACCCCAGTGGGGAAAGTACTGATGTTATTCCCATTTTACAGGAAATAGAAGTTTAGAAAAATTAAATGACTTGACCAAGTTCATTTGGCTAGAAAGTAGCACCTCAAAGATTGGAGCCACCTCACTGAACAGCCCAGTAGCTCCCACCTGCTTGGGCTTGGATGTACTCCCCATCCCTGGCTCCATGCCAGCTTCCCTGGCCTGCTAAGAGGAGGAGGACTACAGAGCTCCACCCTTCCTTTCCCCAGGACTCCTCTGCTCCGGAGTAGGAACTTTACTGGGCCCTGGGTCCTTGCCTGTCTCCACCAGGATTTCTGAAGCAGCTTCTAGTTTAGGGGAAGATTTGCCACAGACAGGAGAGCTGCCTGCAGAGCTCTCTGGCTCAGTAACAAAATTCACTGGGAGCAGAGCTATCTGGAGAGCCCCATATTCCTGCTGACTCTCCCAAGTCAAGAAATAAGAGCGTCTGCAACACAGATCTCTGCTTGTCTGGATGTATTCAACAGGCTCAACTCTGAAGAGGCCTTTGCCCCATGCTCACTTCTACCCAAGTAACCCCTCAGCCTAGCGTAGGATAGACCCCTGGTTCTAGCTTAGGTTAGGACCCTGGATGCAGCTACTCAGCATCATCCGCAGTCCCAGATACCCCTTGTCCAGGGTTGGGGCCAAGGTTAGGGCTGCTGCTCAGCTTTGTCCTCAGCTGGGACCTGCAGCTTAGATTCTGGTAGCCTTAACCTGGGCTTAAGGTGGACTCAGGCTAGGACTAGTGAGACTAGGGACAGTTCCTGTCTCTCAGGGGAGAGAAGTAGCTTACTTAGTCTTATCTGTGGCTGGTGTTAACTCTTCAGCCTCATAGAGGTCCTGAGGTGGCTCATCTACATGGCCAAGTCCTGAGGTACCATCTTGGCCTCCTCCAGAACTTGGATGGCCCTTGTCCTGGCCCTCAAGCCAGGCTGCCTACCAAT
AATTCTTGGGAGAGGGGCTCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCATAACCCCAGTGGGGAAAGTACTGATGTTATTCCCATTTTACAGGAAATAGAAGTTTAGAAAAATTAAATGACTTGACCAAGTTCATTTGGCTAGAAAGTAGCACCTCAAAGATTGGAGCCACCTCACTGAACAGCCCAGTAGCTCCCACCTGCTTGGGCTTGGATGTACTCCCCATCCCTGGCTCCATGCCAGCTTCCCTGGCCTGCTAAGAGGAGGAGGACTACAGAGCTCCACCCTTCCTTTCCCCAGGACTCCTCTGCTCCGGAGTAGGAACTTTACTGGGCCCTGGGTCCTTGCCTGTCTCCACCAGGATTTCTGAAGCAGCTTCTAGTTTAGGGGAAGATTTGCCACAGACAGGAGAGCTGCCTGCAGAGCTCTCTGGCTCAGTAACAAAATTCACTGGGAGCAGAGCTATCTGGAGAGCCCCATATTCCTGCTGACTCTCCCAAGTCAAGAAATAAGAGCGTCTGCAACACAGATCTCTGCTTGTCTGGATGTATTCAACAGGCTCAACTCTGAAGAGGCCTTTGCCCCATGCTCACTTCTACCCAAGTAACCCCTCAGCCTAGCGTAGGATAGACCCCTGGTTCTAGCTTAGGTTAGGACCCTGGATGCAGCTACTCAGCATCATCCGCAGTCCCAGATACCCCTTGTCCAGGGTTGGGGCCAAGGTTAGGGCTGCTGCTCAGCTTTGTCCTCAGCTGGGACCTGCAGCTTAGATTCTGGTAGCCTTAACCTGGGCTTAAGGTGGACTCAGGCTAGGACTAGTGAGACTAGGGACAGTTCCTGTCTCTCAGGGGAGAGAAGTAGCTTACTTAGTCTTATCTGTGGCTGGTGTTAACTCTTCAGCCTCATAGAGGTCCTGAGGTGGCTCATCTACATGGCCAAGTCCTGAGGTACCATCTTGGCCTCCTCCAGAACTTGGATGGCCCTTGTCCTGGCCCTCAAGCCAGGCTGCCTACCAATN
pathogenic
167,205
Determine whether the variant at chromosome 10, position 102067160, in gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic
TCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCATAACCCCAGTGGGGAAAGTACTGATGTTATTCCCATTTTACAGGAAATAGAAGTTTAGAAAAATTAAATGACTTGACCAAGTTCATTTGGCTAGAAAGTAGCACCTCAAAGATTGGAGCCACCTCACTGAACAGCCCAGTAGCTCCCACCTGCTTGGGCTTGGATGTACTCCCCATCCCTGGCTCCATGCCAGCTTCCCTGGCCTGCTAAGAGGAGGAGGACTACAGAGCTCCACCCTTCCTTTCCCCAGGACTCCTCTGCTCCGGAGTAGGAACTTTACTGGGCCCTGGGTCCTTGCCTGTCTCCACCAGGATTTCTGAAGCAGCTTCTAGTTTAGGGGAAGATTTGCCACAGACAGGAGAGCTGCCTGCAGAGCTCTCTGGCTCAGTAACAAAATTCACTGGGAGCAGAGCTATCTGGAGAGCCCCATATTCCTGCTGACTCTCCCAAGTCAAGAAATAAGAGCGTCTGCAACACAGATCTCTGCTTGTCTGGATGTATTCAACAGGCTCAACTCTGAAGAGGCCTTTGCCCCATGCTCACTTCTACCCAAGTAACCCCTCAGCCTAGCGTAGGATAGACCCCTGGTTCTAGCTTAGGTTAGGACCCTGGATGCAGCTACTCAGCATCATCCGCAGTCCCAGATACCCCTTGTCCAGGGTTGGGGCCAAGGTTAGGGCTGCTGCTCAGCTTTGTCCTCAGCTGGGACCTGCAGCTTAGATTCTGGTAGCCTTAACCTGGGCTTAAGGTGGACTCAGGCTAGGACTAGTGAGACTAGGGACAGTTCCTGTCTCTCAGGGGAGAGAAGTAGCTTACTTAGTCTTATCTGTGGCTGGTGTTAACTCTTCAGCCTCATAGAGGTCCTGAGGTGGCTCATCTACATGGCCAAGTCCTGAGGTACCATCTTGGCCTCCTCCAGAACTTGGATGGCCCTTGTCCTGGCCCTCAAGCCAGGCTGCCTACCAATACCTGGAGTCAAGCTACT
TCAGGGGGCTGGAATCCCTATTCCTGCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCATAACCCCAGTGGGGAAAGTACTGATGTTATTCCCATTTTACAGGAAATAGAAGTTTAGAAAAATTAAATGACTTGACCAAGTTCATTTGGCTAGAAAGTAGCACCTCAAAGATTGGAGCCACCTCACTGAACAGCCCAGTAGCTCCCACCTGCTTGGGCTTGGATGTACTCCCCATCCCTGGCTCCATGCCAGCTTCCCTGGCCTGCTAAGAGGAGGAGGACTACAGAGCTCCACCCTTCCTTTCCCCAGGACTCCTCTGCTCCGGAGTAGGAACTTTACTGGGCCCTGGGTCCTTGCCTGTCTCCACCAGGATTTCTGAAGCAGCTTCTAGTTTAGGGGAAGATTTGCCACAGACAGGAGAGCTGCCTGCAGAGCTCTCTGGCTCAGTAACAAAATTCACTGGGAGCAGAGCTATCTGGAGAGCCCCATATTCCTGCTGACTCTCCCAAGTCAAGAAATAAGAGCGTCTGCAACACAGATCTCTGCTTGTCTGGATGTATTCAACAGGCTCAACTCTGAAGAGGCCTTTGCCCCATGCTCACTTCTACCCAAGTAACCCCTCAGCCTAGCGTAGGATAGACCCCTGGTTCTAGCTTAGGTTAGGACCCTGGATGCAGCTACTCAGCATCATCCGCAGTCCCAGATACCCCTTGTCCAGGGTTGGGGCCAAGGTTAGGGCTGCTGCTCAGCTTTGTCCTCAGCTGGGACCTGCAGCTTAGATTCTGGTAGCCTTAACCTGGGCTTAAGGTGGACTCAGGCTAGGACTAGTGAGACTAGGGACAGTTCCTGTCTCTCAGGGGAGAGAAGTAGCTTACTTAGTCTTATCTGTGGCTGGTGTTAACTCTTCAGCCTCATAGAGGTCCTGAGGTGGCTCATCTACATGGCCAAGTCCTGAGGTACCATCTTGGCCTCCTCCAGAACTTGGATGGCCCTTGTCCTGGCCCTCAAGCCAGGCTGCCTACCAATACCTGGAGTCAAGCTAC
pathogenic
167,206
Gene HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3) variant at chromosome position 102067185 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Hermansky-Pudlak_syndrome', 'Hermansky-Pudlak_syndrome_6']
GCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCATAACCCCAGTGGGGAAAGTACTGATGTTATTCCCATTTTACAGGAAATAGAAGTTTAGAAAAATTAAATGACTTGACCAAGTTCATTTGGCTAGAAAGTAGCACCTCAAAGATTGGAGCCACCTCACTGAACAGCCCAGTAGCTCCCACCTGCTTGGGCTTGGATGTACTCCCCATCCCTGGCTCCATGCCAGCTTCCCTGGCCTGCTAAGAGGAGGAGGACTACAGAGCTCCACCCTTCCTTTCCCCAGGACTCCTCTGCTCCGGAGTAGGAACTTTACTGGGCCCTGGGTCCTTGCCTGTCTCCACCAGGATTTCTGAAGCAGCTTCTAGTTTAGGGGAAGATTTGCCACAGACAGGAGAGCTGCCTGCAGAGCTCTCTGGCTCAGTAACAAAATTCACTGGGAGCAGAGCTATCTGGAGAGCCCCATATTCCTGCTGACTCTCCCAAGTCAAGAAATAAGAGCGTCTGCAACACAGATCTCTGCTTGTCTGGATGTATTCAACAGGCTCAACTCTGAAGAGGCCTTTGCCCCATGCTCACTTCTACCCAAGTAACCCCTCAGCCTAGCGTAGGATAGACCCCTGGTTCTAGCTTAGGTTAGGACCCTGGATGCAGCTACTCAGCATCATCCGCAGTCCCAGATACCCCTTGTCCAGGGTTGGGGCCAAGGTTAGGGCTGCTGCTCAGCTTTGTCCTCAGCTGGGACCTGCAGCTTAGATTCTGGTAGCCTTAACCTGGGCTTAAGGTGGACTCAGGCTAGGACTAGTGAGACTAGGGACAGTTCCTGTCTCTCAGGGGAGAGAAGTAGCTTACTTAGTCTTATCTGTGGCTGGTGTTAACTCTTCAGCCTCATAGAGGTCCTGAGGTGGCTCATCTACATGGCCAAGTCCTGAGGTACCATCTTGGCCTCCTCCAGAACTTGGATGGCCCTTGTCCTGGCCCTCAAGCCAGGCTGCCTACCAATACCTGGAGTCAAGCTACTGTTCTTGCCAGAGGCCCAGGGGTAG
GCGTGGGACTCCGGGCCACTGGGCGGCGTCCTGGGGTCTGGGGAAGGGCCTCCCCCTGCGCCGAGAGCGTGCCCGGGCGGGCGCGGTCCAGGCGCTGAGCCCCTGGGGCGCTCCCGTGGCTCCTCCCCCGGCGGGCGTGTAGTGTCGGCCCAGCGACTGCGGGAGGCATCCCGGAGCCGGCCGGGCGGGGCGGAGTCGACGCTCGGCCCGGCCTCTGCTCACCTCATCCACGGGAGACGGAAGTCTTGGCCCTGCTCCGCTCCCCCGAGAATCGGGCCTCGCCCTGCTGGGCGGCTGGACCTGGGCAAAGCCTGGGCGCGCTCCCGCGCAGCGGCGCCATGAAGCGCTCGGGGACTCTGCGGCTGCTCTCGGACCTGAGCGCCTTCGGCGGCGCGGCGCGGCTCCGGGAGCTGGTGGCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCACTTGCTGCTCCTGCGACCCCCTGGGGCGGTAGCCCCACAGCTGCTAGTCGCGTCGCGAGGGCCCGGCGCGGAGCTAGAGCGGGCCTGGCCGGCCGGCCAGCCCTCCCCGCTGGACGCCTTCTTCCTGCCGTGGCCAGCGCGGCCGGCGCTGGTGCTGGTGTGGGAGAGTGGCCTGGCCGAGGTGTGGGGCGCGGGCGTGGGGCCTGGCTGGCGGCCGCTGCAGAGCACCGAGCTGTGTCCGGGCGGGGGAGCCCGCGTTGTGGCAGTGGCGGCGCTCCGAGGCCGCCTGGTGTGGTGCGAGGAGCGGCAGGCCCGGGCCGAGGGCCCGTCAGGGTCGCCAGCAGCCGCTTTCAGCCACTGTGTGTGCGTCCGGACTCTGGAGCCCAGCGGGGAAGCTAGCACCAGCCTGGGCCGCACACACGTCCTGCTGCACCACTGCCCTGCCTTCGGGCTGCTGGCCTCCTGCAGACAACTCTTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCACGTTCTACTCATCTGGAGCCCAGGCAAGGGCAAAGTGATGGTGGCTGCCCCACGGCTTGGTCTCTCCTACAGTAAGAGTCTGAATCCTGGACGAGGGGACACATGGGACTTCCGGACCCTGCTCCGAGGCCTTCCTGGGTTGCTGTCCCCCAGGGAGCCACTGGCTGTACACACCTGGGCCCCAACTCCCCAGGGCCTGCTGTTGCTTGACTTCGGGGGCACTGTGAGCCTATTGCAGTCCCACGGTGGTACGCGGGCTGTGGGCACCCTGCAGGAGGCACCTGTAGGCCCGTGGGGGTCTGCAGCCCTAGGCACATTTCAGGGCACTCTGGCCTGTGTGCTGGGCTCCACATTGGAACTGCTGGACATGGGCAGTGGGCAGCTGCTGGAGAGGAAGGTCCTAAGTACAGACAGGGTACATCTGCTAGAACCGCCAGCCCCCGGCATGGAGGATGAGGAAGAGCTGGAGACCCGAGGGAATCTTCGTCTGCTTTCAGCCTTGGGTCTGTTTTGTGTGGGCTGGGAAGCCCCACAGGGTGTTGAGTTGCCTTCAGCCAAGGATCTGGTGTTTGAGGAGGCCTGCGGGTACTACCAGCGGCGGAGCCTGCGGGGTGCCCAGCTCACTCCAGAAGAACTGAGACACAGCAGCACATTCCGGGCACCTCAGGCTCTGGCCTCCATCCTCCAGGGCCACCTGCCCCCATCTGCACTGCTGACCATGTTGAGGACCGAGCTTCGGGATTACCGAGGCTTAGAACAGCTGAAGGCCCAGCTGGTGGCTGGGGATGATGAGGAGGCTGGTTGGACTGAGCTGGCGGAGCAGGAAGTGGCACGCCTGCTGAGGACTGAGTTGATAGGAGACCAGCTAGCCCAGCTCAACACCGTTTTCCAAGCCCTTCCTACAGCAGCCTGGGGTGCCACCCTCAGGGCCCTGCAGCTCCAGCTAGATGGGAATGGCAAGCTGAGGTCCCAAGCACCCCCTGATGTGTGGAAGAAAGTGTTAGGGGGAATAACCGCTGGAAAGGAACCCCCCAATGGAATACTGCCCCCCTTTGAACTCCTGTGCCAGTAGGTCTGTGCCAGCTGGAGCCTCGATGGCTGCCACCCTTTGTGGAGCTGGCACAGCAGCAGGGCGGGCCGGGCTGGGGGGCAGGGGGCCCAGGACTGCCCCTGTATCGCCGAGCTCTGGCAGTGCTAGGTGAGGAGGGGACCAGGCCTGAGGCTCTGGAGCTAGAGCTGCTCTTGAGCAGTGGGCGGCCTAAAGCTGTGCTCCAAGCTGTCGGGCAGCTGGTGCAAAAGGAACAATGGGATCGGGCTCTGGATGCTGGCCTGGCCCTCGGCCCCTCCAGTCCCCTGCTTCGAAGTGAAATCTTCAAACTGCTGCTGGCCGAGTTTGCCCAGCACCGCCGGCTTGATGCTCACCTCCCCCTCCTTTGCCGCCTGTGCCCACCAGAACTGGCTCCAGCTGAGCTCCTGCTTCTACTGAGGACATACCTCCCAGATGAGGTGGGGCCCCCAACCCCATTCCCTGAGCCTGGAGCAGAGCCCCCTCTCACTGTGGGCTTGCTCAAAGCCCTGCTGGAGCAGACTGGGGCTCAAGGATGGCTGTCGGGCCCAGTTCTAAGCCCATATGAGGACATCCTATGGGACCCCAGCACTCCACCCCCGACTCCACCTCGGGACCTATGACTACCCTTCAGGCATCAGAACACTCAGGGCCTGGAGGCTTGCTTGGGACTGGAGGCTTGCTTGGACAGTTCCTCTGTGTCACTGACACAGGAAATCATTTCTAGGACACAGTGATCAGGGAAGGGTGCCTGGGACTTGGAGGGTCCCATGTATGGACCTGTGTATGCAATACTGTTCTGTCATCTGGAGCTATTTTTAAGATGTGTGTGTTAAATATATACATAGTTTAATATATACACAGTTGTGTGTTTTTAAACAGGTACAGGTCTCAGAGGATGCAGGTTATAGAGGGAGTGGTTGGATCTGGATCTTTTGGCTAAAGTCCCCACTTCCAATCATGAAAATAGTTAACATTTATGAGCATTTAATAGAAGCCAGGCATTCTACTCATCTTTATATAATCCCTCAGCTAGCTTCTCATAACCCCAGTGGGGAAAGTACTGATGTTATTCCCATTTTACAGGAAATAGAAGTTTAGAAAAATTAAATGACTTGACCAAGTTCATTTGGCTAGAAAGTAGCACCTCAAAGATTGGAGCCACCTCACTGAACAGCCCAGTAGCTCCCACCTGCTTGGGCTTGGATGTACTCCCCATCCCTGGCTCCATGCCAGCTTCCCTGGCCTGCTAAGAGGAGGAGGACTACAGAGCTCCACCCTTCCTTTCCCCAGGACTCCTCTGCTCCGGAGTAGGAACTTTACTGGGCCCTGGGTCCTTGCCTGTCTCCACCAGGATTTCTGAAGCAGCTTCTAGTTTAGGGGAAGATTTGCCACAGACAGGAGAGCTGCCTGCAGAGCTCTCTGGCTCAGTAACAAAATTCACTGGGAGCAGAGCTATCTGGAGAGCCCCATATTCCTGCTGACTCTCCCAAGTCAAGAAATAAGAGCGTCTGCAACACAGATCTCTGCTTGTCTGGATGTATTCAACAGGCTCAACTCTGAAGAGGCCTTTGCCCCATGCTCACTTCTACCCAAGTAACCCCTCAGCCTAGCGTAGGATAGACCCCTGGTTCTAGCTTAGGTTAGGACCCTGGATGCAGCTACTCAGCATCATCCGCAGTCCCAGATACCCCTTGTCCAGGGTTGGGGCCAAGGTTAGGGCTGCTGCTCAGCTTTGTCCTCAGCTGGGACCTGCAGCTTAGATTCTGGTAGCCTTAACCTGGGCTTAAGGTGGACTCAGGCTAGGACTAGTGAGACTAGGGACAGTTCCTGTCTCTCAGGGGAGAGAAGTAGCTTACTTAGTCTTATCTGTGGCTGGTGTTAACTCTTCAGCCTCATAGAGGTCCTGAGGTGGCTCATCTACATGGCCAAGTCCTGAGGTACCATCTTGGCCTCCTCCAGAACTTGGATGGCCCTTGTCCTGGCCCTCAAGCCAGGCTGCCTACCAATACCTGGAGTCAAGCTACTGTTCTTGCCAGAGGCCCAGGGGT
pathogenic
167,208
Chromosome 10, position 102230766, gene PITX3: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['ANTERIOR_SEGMENT_DYSGENESIS_1,_MULTIPLE_SUBTYPES', 'Cataract_11,_posterior_polar', 'Cataract_11_multiple_types', 'PITX3-related_disorder']
AAAGACCCCCTTCCCTCCCCTGAGAATTTCTCCCGTGTCCCTACATCCAGTGCAGAGGGTGGTCCCAGCACTGGGTGGTATGCCAACTATGACTCTCCATCTCCCAGGAGACACAGCCTTCATCATCCTGCGTAAGCGGCCACTCATCTTTATTCACTGGTACCACCACAGCACAGTGCTCGTGTACACAAGCTTTGGATACAAGAACAAAGTGCCTGCAGGAGGCTGGTTCGTCACCATGAACTTTGGTGTTCATGCCATCATGTACACCTACTACACTCTGAAGGCTGCCAACGTGAAGCCCCCCAAGATGCTGCCCATGCTCATCACCAGCCTGCAGATCTTGCAGATGTTTGTAGGAGCCATCGTCAGCATCCTCACGTACATCTGGAGGCAGGATCAGGGATGCCACACCACGATGGAACACTTATTCTGGTCCTTCATCTTGTATATGACCTATTTCATCCTCTTTGCCCACTTCTTCTGCCAGACCTACATCAGGCCCAAGGTCAAAGCCAAGACCAAGAGCCAGTGAAGGTTTGGAGAGAACAATGAAGCTCCAGGCTCTCTCTTCTCCAGGGCACCAAGAGGCTGGGCTTAGTTTTGGGAGAATGATTAGGTTGCCTTACCTGCATGGTTTCCCCAGAGGATGTGTGCCCCAAGGTGGCTGGAATTTTTGACAGACAAGAAGGGTGACCTTGGGATGGGGGTGTGGTCTGTTACTTTAATGTTTCTGTTTTTAATGTGAAGGCCAAGCAGGCCCTGGGATGGGAGTGGGGCGGAGGAGGGTCCTAAGAGCTGATTATTTAATTTCTATCCAGAAATCTTTCTTCTTCTTGCTCTGTTTTTTTAAATTAAAGATTTCAACAAAATTTTGAGAGTTGGGGGATTTGGGGGGAAAGAGGGCTGCTGTGATGGCAGGAGGCTGCTACCAAGGGGATGATCTGCAGGTGGGACGCCTGAGGGTGTGTGGAAGGGTGAGAGGCACACACACAGACACTGAAAGAATCCTAGGCCTGGTAGGCACTTAACAAATGTCTGTTACAGACCAGAATTTTATTGCTGTTAGAGACCCAAGCCCCTCATAGGAACAGTGAGAAACAGGTGCAGAAAGGCGGAGTAACTTTATCTAAAGTCATAGGCTCCCTGAATAGCAGAGCTGACACCTACAAGGAAGCGTTGGAGACCAGATCTACCAGCTAGCCTCCCTGAGACCACGAGGTGGCGCCGCAGCACCGGCTGTGGCCGATGCCAGCCAGGTAGCCGGTTTCCCACGTCCCCCGCACGCACGCACCTCTTTGCTGCAGGAATCCCGGGCTGCCCCGACCTGGAGTAGGGGGGGTGGTGAGTGGGACTGAGTCCCTAGAAGCCTGGACCCTCACTTCGTTCCTGTACATCCAGCTCGCCTGTAGACAGTGGGGGAGGATGAAGGGAAGAGGACTCAAGCGCAACTTTGAATCATCACGCCTTCGACAGTCCGCGCACGTTTATTTCATTTATCTTTGAAAACGAGGGAGGGGAAGCCTGGAGAAGGCGGGATGGGCCAAGGGTGAGTTGGCCCCCGGGGAGCTGGTCCCTGTTCCTGGCTTTAGTCCCAGGGGCGCGGTCTGTGTGTAGGGCCTAGTCCACCCCTCAGGGCTGGGAGGGGAAGGCCCTCTCCTGAGCCGGTGCCCCCCAGCTGCCCAAACACCCCTTTCAGACCCTGGGGCGGGAGCAAGCCAGTCAAAATGACCCCAGTCCGCGGAGGCTGTGAATCGTTGCCCCCGCCCTCGGGGATGATCTACGGGCGGGGCCGCTCATACGGGCCTTTCCACGGCGTACTGGCACGGACTAAGGTTGGCTGCCGGGGGCGGCCCGTGCACAGCGGGGTAGCTGAAGGAGGCGTGCTGTTTGGCTTTGAGCCGCAGGCTGGCCAGGCTCGAGTTACACGGGTCCCGATAGACGTAGGGGGAAGAGGCGGCAGCCGCGGCGGCGGCGGCGGCCGAGGCATAAGGGCAGGACACGGCCCCGGAGGACACGGCGGCCGGAGCCAGCCCGGGGGGGCCCCCGCCCAGGCCCTGCAGGGCCCCAGGCCCTGGCACGGTGCCCGGGGCAGCCGCGGCGGAGGGCACCATGGAGGCGGCGATGGAGCTGGGTGGCGAGAAGACGGGCTGCGAAGCCAGAGGCCCCACGTTGACCGAGTTGAAGGCGAATGGAAAGGTCTTGGCGGCGAGCGGCGGGGCAAGAGCCTTGGGCGGCCAGTTGCCGTACGAGTAGCCGGGGTACACCTCCTCGTAGGGCGGCACCAGCCCCCCGAGCGGCGCCGCGAAGCTGCCTTTGCATAGCTCGGCCTGCTGGCTGCGCTCGCGCTTCCGCCATTTGGCGCGCCGGTTCTTGAACCACACCTGCGGGCACGGGAGAAAGGCGGTCAGGGCCCGGGGCCGGGTCCCAGCGGCTGAAGGGCGGGCCACCCCGACGGGGCTTCCAGCCGGGGCCCTGCGGTCAATAAACGAGATGAGGTGGCTAGAGACGGGGTGGGAGGGAAGGAGCGCACGGAGTCCGGGGTCGGAGAACAGAAGGCGCGGGCGGCTGGACCGAGTCATCGGCGCCAGGGTCTGGCGGGACAGTAGGATGGGGTTGAGGAGGGGTGGTGAGGGGAAGGAGAGACGGTGTCAGGGCCGAAGAAGCGCGCGGTCCGAGTAGTAGGGAGCAGTGGGAGCAGAGGCTGGAGGTTGGCGGGCAAGAGACCGCGTGGGGCTGCGGCCGGGAGCCAGGGTCCGGGGTCCGGGGTCCGAGGGAGGGGGCAGGTGGGGTGGAACCGCTGGCCTCCGGGTCGCAGGCTGAGCGCGGAGGGCCCGCGCGGGTGCGAGTCGCGGGTCTGGAGAGCATACCCGCACGCGGGCCTCGGTGAGGTTGGTCCACACGGCGATCTCCTCGCGCGTGCTCATGTCGGGGTAGCGGTTCCTCTGGAAGGTCGCCTCTAGCTCCTGTAGCTGCTGGCTGGTGAAGTGCGTGCGCTGCCGCCGCTGCTTCTTTTTCAGCGAACCGTCCTCTGGGGAGCCGCCGGGCAGCGAAGCCGAGGCCTTTTCTGAGTCTGGGGGCCAGGGTGGGGGCAGGTCACAGAGCGCCCAAGCCAGCGCATATTCTCCGGCTCGGGGACCTCCTAAGCCACTCGCTGGCTCCCACCGGGGCTGCCCAGCCGGGGTCCCACCCGCACTGGGGATGAAGCTGTTATGTCCTGCACCCCCGGAAGGGGGCGCGCTTACCGCTGTGCTCCTGGCCCTTGCAGCCGTGCTCTGGGAGCTGGGGGTGCGGAGTGCCAGCGTCTGACAGCGACAGGGCAGGGCTCCGGGCCTCTGCCTCGCTGAGCAGGCCGAACTCCATGGAGGGAGGGCTCTGGAGGCGAGAGAAGACACAGACCAGGGTAATGGGGGTAAAATCTCCGGCTTAGCTAGGTCCCAGCAGCGTTTCCTCGTAAATTCCCTGGCGCCTTTCTCAACCCCAGCCGTAAAGCTGGGGCTGCGTGGGGCTCCTTAGGATAGAATCGGGAAATAGCATCCTAAGGACGCAGAGGTGCATGCTGAGAGGTTCTCTGCATAGATATATAAACTAGACTTCGTTTCGTTTACTGCTGGGAACTAGAACTGTGCCAGGTATACAGTTGGGGTTCAATATTTATTGAATTAATAAAAATGTAGACTATAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCCGTCCCTACTAAAAATACAAAAATTGCTGGGCGGGGTGGCACGTGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGCGAGCCGAGATGGTGCTACTGCACTCCAGCCTGGGTGACAGAGCAAGATGCTGTCTCAAAAAACAACAACAACAAAATCTACACTATAGCACGCTACATACCCTATACTACATCTGCAAAAACTTAAAATCCTTCTCACCTGAATGCTTAGTATCCCCCTATACTCATACATGGTCCTCAGCCAATCAT
AAAGACCCCCTTCCCTCCCCTGAGAATTTCTCCCGTGTCCCTACATCCAGTGCAGAGGGTGGTCCCAGCACTGGGTGGTATGCCAACTATGACTCTCCATCTCCCAGGAGACACAGCCTTCATCATCCTGCGTAAGCGGCCACTCATCTTTATTCACTGGTACCACCACAGCACAGTGCTCGTGTACACAAGCTTTGGATACAAGAACAAAGTGCCTGCAGGAGGCTGGTTCGTCACCATGAACTTTGGTGTTCATGCCATCATGTACACCTACTACACTCTGAAGGCTGCCAACGTGAAGCCCCCCAAGATGCTGCCCATGCTCATCACCAGCCTGCAGATCTTGCAGATGTTTGTAGGAGCCATCGTCAGCATCCTCACGTACATCTGGAGGCAGGATCAGGGATGCCACACCACGATGGAACACTTATTCTGGTCCTTCATCTTGTATATGACCTATTTCATCCTCTTTGCCCACTTCTTCTGCCAGACCTACATCAGGCCCAAGGTCAAAGCCAAGACCAAGAGCCAGTGAAGGTTTGGAGAGAACAATGAAGCTCCAGGCTCTCTCTTCTCCAGGGCACCAAGAGGCTGGGCTTAGTTTTGGGAGAATGATTAGGTTGCCTTACCTGCATGGTTTCCCCAGAGGATGTGTGCCCCAAGGTGGCTGGAATTTTTGACAGACAAGAAGGGTGACCTTGGGATGGGGGTGTGGTCTGTTACTTTAATGTTTCTGTTTTTAATGTGAAGGCCAAGCAGGCCCTGGGATGGGAGTGGGGCGGAGGAGGGTCCTAAGAGCTGATTATTTAATTTCTATCCAGAAATCTTTCTTCTTCTTGCTCTGTTTTTTTAAATTAAAGATTTCAACAAAATTTTGAGAGTTGGGGGATTTGGGGGGAAAGAGGGCTGCTGTGATGGCAGGAGGCTGCTACCAAGGGGATGATCTGCAGGTGGGACGCCTGAGGGTGTGTGGAAGGGTGAGAGGCACACACACAGACACTGAAAGAATCCTAGGCCTGGTAGGCACTTAACAAATGTCTGTTACAGACCAGAATTTTATTGCTGTTAGAGACCCAAGCCCCTCATAGGAACAGTGAGAAACAGGTGCAGAAAGGCGGAGTAACTTTATCTAAAGTCATAGGCTCCCTGAATAGCAGAGCTGACACCTACAAGGAAGCGTTGGAGACCAGATCTACCAGCTAGCCTCCCTGAGACCACGAGGTGGCGCCGCAGCACCGGCTGTGGCCGATGCCAGCCAGGTAGCCGGTTTCCCACGTCCCCCGCACGCACGCACCTCTTTGCTGCAGGAATCCCGGGCTGCCCCGACCTGGAGTAGGGGGGGTGGTGAGTGGGACTGAGTCCCTAGAAGCCTGGACCCTCACTTCGTTCCTGTACATCCAGCTCGCCTGTAGACAGTGGGGGAGGATGAAGGGAAGAGGACTCAAGCGCAACTTTGAATCATCACGCCTTCGACAGTCCGCGCACGTTTATTTCATTTATCTTTGAAAACGAGGGAGGGGAAGCCTGGAGAAGGCGGGATGGGCCAAGGGTGAGTTGGCCCCCGGGGAGCTGGTCCCTGTTCCTGGCTTTAGTCCCAGGGGCGCGGTCTGTGTGTAGGGCCTAGTCCACCCCTCAGGGCTGGGAGGGGAAGGCCCTCTCCTGAGCCGGTGCCCCCCAGCTGCCCAAACACCCCTTTCAGACCCTGGGGCGGGAGCAAGCCAGTCAAAATGACCCCAGTCCGCGGAGGCTGTGAATCGTTGCCCCCGCCCTCGGGGATGATCTACGGGCGGGGCCGCTCATACGGGCCTTTCCACGGCGTACTGGCACGGACTAAGGTTGGCTGCCGGGGGCGGCCCGTGCACAGCGGGGTAGCTGAAGGAGGCGTGCTGTTTGGCTTTGAGCCGCAGGCTGGCCAGGCTCGAGTTACACGGGTCCCGATAGACGTAGGGGGAAGAGGCGGCAGCCGCGGCGGCGGCGGCGGCCGAGGCATAAGGGCAGGACACGGCCCCGGAGGACACGGCGGCCGGAGCCAGCCCGGGGGGGCCCCCGCCCAGGCCCTGCAGGGCCCCAGGCCCTGCAGGGCCCCAGGCCCTGGCACGGTGCCCGGGGCAGCCGCGGCGGAGGGCACCATGGAGGCGGCGATGGAGCTGGGTGGCGAGAAGACGGGCTGCGAAGCCAGAGGCCCCACGTTGACCGAGTTGAAGGCGAATGGAAAGGTCTTGGCGGCGAGCGGCGGGGCAAGAGCCTTGGGCGGCCAGTTGCCGTACGAGTAGCCGGGGTACACCTCCTCGTAGGGCGGCACCAGCCCCCCGAGCGGCGCCGCGAAGCTGCCTTTGCATAGCTCGGCCTGCTGGCTGCGCTCGCGCTTCCGCCATTTGGCGCGCCGGTTCTTGAACCACACCTGCGGGCACGGGAGAAAGGCGGTCAGGGCCCGGGGCCGGGTCCCAGCGGCTGAAGGGCGGGCCACCCCGACGGGGCTTCCAGCCGGGGCCCTGCGGTCAATAAACGAGATGAGGTGGCTAGAGACGGGGTGGGAGGGAAGGAGCGCACGGAGTCCGGGGTCGGAGAACAGAAGGCGCGGGCGGCTGGACCGAGTCATCGGCGCCAGGGTCTGGCGGGACAGTAGGATGGGGTTGAGGAGGGGTGGTGAGGGGAAGGAGAGACGGTGTCAGGGCCGAAGAAGCGCGCGGTCCGAGTAGTAGGGAGCAGTGGGAGCAGAGGCTGGAGGTTGGCGGGCAAGAGACCGCGTGGGGCTGCGGCCGGGAGCCAGGGTCCGGGGTCCGGGGTCCGAGGGAGGGGGCAGGTGGGGTGGAACCGCTGGCCTCCGGGTCGCAGGCTGAGCGCGGAGGGCCCGCGCGGGTGCGAGTCGCGGGTCTGGAGAGCATACCCGCACGCGGGCCTCGGTGAGGTTGGTCCACACGGCGATCTCCTCGCGCGTGCTCATGTCGGGGTAGCGGTTCCTCTGGAAGGTCGCCTCTAGCTCCTGTAGCTGCTGGCTGGTGAAGTGCGTGCGCTGCCGCCGCTGCTTCTTTTTCAGCGAACCGTCCTCTGGGGAGCCGCCGGGCAGCGAAGCCGAGGCCTTTTCTGAGTCTGGGGGCCAGGGTGGGGGCAGGTCACAGAGCGCCCAAGCCAGCGCATATTCTCCGGCTCGGGGACCTCCTAAGCCACTCGCTGGCTCCCACCGGGGCTGCCCAGCCGGGGTCCCACCCGCACTGGGGATGAAGCTGTTATGTCCTGCACCCCCGGAAGGGGGCGCGCTTACCGCTGTGCTCCTGGCCCTTGCAGCCGTGCTCTGGGAGCTGGGGGTGCGGAGTGCCAGCGTCTGACAGCGACAGGGCAGGGCTCCGGGCCTCTGCCTCGCTGAGCAGGCCGAACTCCATGGAGGGAGGGCTCTGGAGGCGAGAGAAGACACAGACCAGGGTAATGGGGGTAAAATCTCCGGCTTAGCTAGGTCCCAGCAGCGTTTCCTCGTAAATTCCCTGGCGCCTTTCTCAACCCCAGCCGTAAAGCTGGGGCTGCGTGGGGCTCCTTAGGATAGAATCGGGAAATAGCATCCTAAGGACGCAGAGGTGCATGCTGAGAGGTTCTCTGCATAGATATATAAACTAGACTTCGTTTCGTTTACTGCTGGGAACTAGAACTGTGCCAGGTATACAGTTGGGGTTCAATATTTATTGAATTAATAAAAATGTAGACTATAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCCGTCCCTACTAAAAATACAAAAATTGCTGGGCGGGGTGGCACGTGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGCGAGCCGAGATGGTGCTACTGCACTCCAGCCTGGGTGACAGAGCAAGATGCTGTCTCAAAAAACAACAACAACAAAATCTACACTATAGCACGCTACATACCCTATACTACATCTGCAAAAACTTAAAATCCTTCTCACCTGAATGCTTAGTATCCCCCTATACTCATACAT
pathogenic
167,220
Mutation found at chromosome 10 position 102230766, gene PITX3: benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Anterior_segment_dysgenesis_1', 'Cataract_11_multiple_types']
AAAGACCCCCTTCCCTCCCCTGAGAATTTCTCCCGTGTCCCTACATCCAGTGCAGAGGGTGGTCCCAGCACTGGGTGGTATGCCAACTATGACTCTCCATCTCCCAGGAGACACAGCCTTCATCATCCTGCGTAAGCGGCCACTCATCTTTATTCACTGGTACCACCACAGCACAGTGCTCGTGTACACAAGCTTTGGATACAAGAACAAAGTGCCTGCAGGAGGCTGGTTCGTCACCATGAACTTTGGTGTTCATGCCATCATGTACACCTACTACACTCTGAAGGCTGCCAACGTGAAGCCCCCCAAGATGCTGCCCATGCTCATCACCAGCCTGCAGATCTTGCAGATGTTTGTAGGAGCCATCGTCAGCATCCTCACGTACATCTGGAGGCAGGATCAGGGATGCCACACCACGATGGAACACTTATTCTGGTCCTTCATCTTGTATATGACCTATTTCATCCTCTTTGCCCACTTCTTCTGCCAGACCTACATCAGGCCCAAGGTCAAAGCCAAGACCAAGAGCCAGTGAAGGTTTGGAGAGAACAATGAAGCTCCAGGCTCTCTCTTCTCCAGGGCACCAAGAGGCTGGGCTTAGTTTTGGGAGAATGATTAGGTTGCCTTACCTGCATGGTTTCCCCAGAGGATGTGTGCCCCAAGGTGGCTGGAATTTTTGACAGACAAGAAGGGTGACCTTGGGATGGGGGTGTGGTCTGTTACTTTAATGTTTCTGTTTTTAATGTGAAGGCCAAGCAGGCCCTGGGATGGGAGTGGGGCGGAGGAGGGTCCTAAGAGCTGATTATTTAATTTCTATCCAGAAATCTTTCTTCTTCTTGCTCTGTTTTTTTAAATTAAAGATTTCAACAAAATTTTGAGAGTTGGGGGATTTGGGGGGAAAGAGGGCTGCTGTGATGGCAGGAGGCTGCTACCAAGGGGATGATCTGCAGGTGGGACGCCTGAGGGTGTGTGGAAGGGTGAGAGGCACACACACAGACACTGAAAGAATCCTAGGCCTGGTAGGCACTTAACAAATGTCTGTTACAGACCAGAATTTTATTGCTGTTAGAGACCCAAGCCCCTCATAGGAACAGTGAGAAACAGGTGCAGAAAGGCGGAGTAACTTTATCTAAAGTCATAGGCTCCCTGAATAGCAGAGCTGACACCTACAAGGAAGCGTTGGAGACCAGATCTACCAGCTAGCCTCCCTGAGACCACGAGGTGGCGCCGCAGCACCGGCTGTGGCCGATGCCAGCCAGGTAGCCGGTTTCCCACGTCCCCCGCACGCACGCACCTCTTTGCTGCAGGAATCCCGGGCTGCCCCGACCTGGAGTAGGGGGGGTGGTGAGTGGGACTGAGTCCCTAGAAGCCTGGACCCTCACTTCGTTCCTGTACATCCAGCTCGCCTGTAGACAGTGGGGGAGGATGAAGGGAAGAGGACTCAAGCGCAACTTTGAATCATCACGCCTTCGACAGTCCGCGCACGTTTATTTCATTTATCTTTGAAAACGAGGGAGGGGAAGCCTGGAGAAGGCGGGATGGGCCAAGGGTGAGTTGGCCCCCGGGGAGCTGGTCCCTGTTCCTGGCTTTAGTCCCAGGGGCGCGGTCTGTGTGTAGGGCCTAGTCCACCCCTCAGGGCTGGGAGGGGAAGGCCCTCTCCTGAGCCGGTGCCCCCCAGCTGCCCAAACACCCCTTTCAGACCCTGGGGCGGGAGCAAGCCAGTCAAAATGACCCCAGTCCGCGGAGGCTGTGAATCGTTGCCCCCGCCCTCGGGGATGATCTACGGGCGGGGCCGCTCATACGGGCCTTTCCACGGCGTACTGGCACGGACTAAGGTTGGCTGCCGGGGGCGGCCCGTGCACAGCGGGGTAGCTGAAGGAGGCGTGCTGTTTGGCTTTGAGCCGCAGGCTGGCCAGGCTCGAGTTACACGGGTCCCGATAGACGTAGGGGGAAGAGGCGGCAGCCGCGGCGGCGGCGGCGGCCGAGGCATAAGGGCAGGACACGGCCCCGGAGGACACGGCGGCCGGAGCCAGCCCGGGGGGGCCCCCGCCCAGGCCCTGCAGGGCCCCAGGCCCTGGCACGGTGCCCGGGGCAGCCGCGGCGGAGGGCACCATGGAGGCGGCGATGGAGCTGGGTGGCGAGAAGACGGGCTGCGAAGCCAGAGGCCCCACGTTGACCGAGTTGAAGGCGAATGGAAAGGTCTTGGCGGCGAGCGGCGGGGCAAGAGCCTTGGGCGGCCAGTTGCCGTACGAGTAGCCGGGGTACACCTCCTCGTAGGGCGGCACCAGCCCCCCGAGCGGCGCCGCGAAGCTGCCTTTGCATAGCTCGGCCTGCTGGCTGCGCTCGCGCTTCCGCCATTTGGCGCGCCGGTTCTTGAACCACACCTGCGGGCACGGGAGAAAGGCGGTCAGGGCCCGGGGCCGGGTCCCAGCGGCTGAAGGGCGGGCCACCCCGACGGGGCTTCCAGCCGGGGCCCTGCGGTCAATAAACGAGATGAGGTGGCTAGAGACGGGGTGGGAGGGAAGGAGCGCACGGAGTCCGGGGTCGGAGAACAGAAGGCGCGGGCGGCTGGACCGAGTCATCGGCGCCAGGGTCTGGCGGGACAGTAGGATGGGGTTGAGGAGGGGTGGTGAGGGGAAGGAGAGACGGTGTCAGGGCCGAAGAAGCGCGCGGTCCGAGTAGTAGGGAGCAGTGGGAGCAGAGGCTGGAGGTTGGCGGGCAAGAGACCGCGTGGGGCTGCGGCCGGGAGCCAGGGTCCGGGGTCCGGGGTCCGAGGGAGGGGGCAGGTGGGGTGGAACCGCTGGCCTCCGGGTCGCAGGCTGAGCGCGGAGGGCCCGCGCGGGTGCGAGTCGCGGGTCTGGAGAGCATACCCGCACGCGGGCCTCGGTGAGGTTGGTCCACACGGCGATCTCCTCGCGCGTGCTCATGTCGGGGTAGCGGTTCCTCTGGAAGGTCGCCTCTAGCTCCTGTAGCTGCTGGCTGGTGAAGTGCGTGCGCTGCCGCCGCTGCTTCTTTTTCAGCGAACCGTCCTCTGGGGAGCCGCCGGGCAGCGAAGCCGAGGCCTTTTCTGAGTCTGGGGGCCAGGGTGGGGGCAGGTCACAGAGCGCCCAAGCCAGCGCATATTCTCCGGCTCGGGGACCTCCTAAGCCACTCGCTGGCTCCCACCGGGGCTGCCCAGCCGGGGTCCCACCCGCACTGGGGATGAAGCTGTTATGTCCTGCACCCCCGGAAGGGGGCGCGCTTACCGCTGTGCTCCTGGCCCTTGCAGCCGTGCTCTGGGAGCTGGGGGTGCGGAGTGCCAGCGTCTGACAGCGACAGGGCAGGGCTCCGGGCCTCTGCCTCGCTGAGCAGGCCGAACTCCATGGAGGGAGGGCTCTGGAGGCGAGAGAAGACACAGACCAGGGTAATGGGGGTAAAATCTCCGGCTTAGCTAGGTCCCAGCAGCGTTTCCTCGTAAATTCCCTGGCGCCTTTCTCAACCCCAGCCGTAAAGCTGGGGCTGCGTGGGGCTCCTTAGGATAGAATCGGGAAATAGCATCCTAAGGACGCAGAGGTGCATGCTGAGAGGTTCTCTGCATAGATATATAAACTAGACTTCGTTTCGTTTACTGCTGGGAACTAGAACTGTGCCAGGTATACAGTTGGGGTTCAATATTTATTGAATTAATAAAAATGTAGACTATAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCCGTCCCTACTAAAAATACAAAAATTGCTGGGCGGGGTGGCACGTGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGCGAGCCGAGATGGTGCTACTGCACTCCAGCCTGGGTGACAGAGCAAGATGCTGTCTCAAAAAACAACAACAACAAAATCTACACTATAGCACGCTACATACCCTATACTACATCTGCAAAAACTTAAAATCCTTCTCACCTGAATGCTTAGTATCCCCCTATACTCATACATGGTCCTCAGCCAATCAT
AAAGACCCCCTTCCCTCCCCTGAGAATTTCTCCCGTGTCCCTACATCCAGTGCAGAGGGTGGTCCCAGCACTGGGTGGTATGCCAACTATGACTCTCCATCTCCCAGGAGACACAGCCTTCATCATCCTGCGTAAGCGGCCACTCATCTTTATTCACTGGTACCACCACAGCACAGTGCTCGTGTACACAAGCTTTGGATACAAGAACAAAGTGCCTGCAGGAGGCTGGTTCGTCACCATGAACTTTGGTGTTCATGCCATCATGTACACCTACTACACTCTGAAGGCTGCCAACGTGAAGCCCCCCAAGATGCTGCCCATGCTCATCACCAGCCTGCAGATCTTGCAGATGTTTGTAGGAGCCATCGTCAGCATCCTCACGTACATCTGGAGGCAGGATCAGGGATGCCACACCACGATGGAACACTTATTCTGGTCCTTCATCTTGTATATGACCTATTTCATCCTCTTTGCCCACTTCTTCTGCCAGACCTACATCAGGCCCAAGGTCAAAGCCAAGACCAAGAGCCAGTGAAGGTTTGGAGAGAACAATGAAGCTCCAGGCTCTCTCTTCTCCAGGGCACCAAGAGGCTGGGCTTAGTTTTGGGAGAATGATTAGGTTGCCTTACCTGCATGGTTTCCCCAGAGGATGTGTGCCCCAAGGTGGCTGGAATTTTTGACAGACAAGAAGGGTGACCTTGGGATGGGGGTGTGGTCTGTTACTTTAATGTTTCTGTTTTTAATGTGAAGGCCAAGCAGGCCCTGGGATGGGAGTGGGGCGGAGGAGGGTCCTAAGAGCTGATTATTTAATTTCTATCCAGAAATCTTTCTTCTTCTTGCTCTGTTTTTTTAAATTAAAGATTTCAACAAAATTTTGAGAGTTGGGGGATTTGGGGGGAAAGAGGGCTGCTGTGATGGCAGGAGGCTGCTACCAAGGGGATGATCTGCAGGTGGGACGCCTGAGGGTGTGTGGAAGGGTGAGAGGCACACACACAGACACTGAAAGAATCCTAGGCCTGGTAGGCACTTAACAAATGTCTGTTACAGACCAGAATTTTATTGCTGTTAGAGACCCAAGCCCCTCATAGGAACAGTGAGAAACAGGTGCAGAAAGGCGGAGTAACTTTATCTAAAGTCATAGGCTCCCTGAATAGCAGAGCTGACACCTACAAGGAAGCGTTGGAGACCAGATCTACCAGCTAGCCTCCCTGAGACCACGAGGTGGCGCCGCAGCACCGGCTGTGGCCGATGCCAGCCAGGTAGCCGGTTTCCCACGTCCCCCGCACGCACGCACCTCTTTGCTGCAGGAATCCCGGGCTGCCCCGACCTGGAGTAGGGGGGGTGGTGAGTGGGACTGAGTCCCTAGAAGCCTGGACCCTCACTTCGTTCCTGTACATCCAGCTCGCCTGTAGACAGTGGGGGAGGATGAAGGGAAGAGGACTCAAGCGCAACTTTGAATCATCACGCCTTCGACAGTCCGCGCACGTTTATTTCATTTATCTTTGAAAACGAGGGAGGGGAAGCCTGGAGAAGGCGGGATGGGCCAAGGGTGAGTTGGCCCCCGGGGAGCTGGTCCCTGTTCCTGGCTTTAGTCCCAGGGGCGCGGTCTGTGTGTAGGGCCTAGTCCACCCCTCAGGGCTGGGAGGGGAAGGCCCTCTCCTGAGCCGGTGCCCCCCAGCTGCCCAAACACCCCTTTCAGACCCTGGGGCGGGAGCAAGCCAGTCAAAATGACCCCAGTCCGCGGAGGCTGTGAATCGTTGCCCCCGCCCTCGGGGATGATCTACGGGCGGGGCCGCTCATACGGGCCTTTCCACGGCGTACTGGCACGGACTAAGGTTGGCTGCCGGGGGCGGCCCGTGCACAGCGGGGTAGCTGAAGGAGGCGTGCTGTTTGGCTTTGAGCCGCAGGCTGGCCAGGCTCGAGTTACACGGGTCCCGATAGACGTAGGGGGAAGAGGCGGCAGCCGCGGCGGCGGCGGCGGCCGAGGCATAAGGGCAGGACACGGCCCCGGAGGACACGGCGGCCGGAGCCAGCCCGGGGGGGCCCCCGCCCAGGCCCTGGCACGGTGCCCGGGGCAGCCGCGGCGGAGGGCACCATGGAGGCGGCGATGGAGCTGGGTGGCGAGAAGACGGGCTGCGAAGCCAGAGGCCCCACGTTGACCGAGTTGAAGGCGAATGGAAAGGTCTTGGCGGCGAGCGGCGGGGCAAGAGCCTTGGGCGGCCAGTTGCCGTACGAGTAGCCGGGGTACACCTCCTCGTAGGGCGGCACCAGCCCCCCGAGCGGCGCCGCGAAGCTGCCTTTGCATAGCTCGGCCTGCTGGCTGCGCTCGCGCTTCCGCCATTTGGCGCGCCGGTTCTTGAACCACACCTGCGGGCACGGGAGAAAGGCGGTCAGGGCCCGGGGCCGGGTCCCAGCGGCTGAAGGGCGGGCCACCCCGACGGGGCTTCCAGCCGGGGCCCTGCGGTCAATAAACGAGATGAGGTGGCTAGAGACGGGGTGGGAGGGAAGGAGCGCACGGAGTCCGGGGTCGGAGAACAGAAGGCGCGGGCGGCTGGACCGAGTCATCGGCGCCAGGGTCTGGCGGGACAGTAGGATGGGGTTGAGGAGGGGTGGTGAGGGGAAGGAGAGACGGTGTCAGGGCCGAAGAAGCGCGCGGTCCGAGTAGTAGGGAGCAGTGGGAGCAGAGGCTGGAGGTTGGCGGGCAAGAGACCGCGTGGGGCTGCGGCCGGGAGCCAGGGTCCGGGGTCCGGGGTCCGAGGGAGGGGGCAGGTGGGGTGGAACCGCTGGCCTCCGGGTCGCAGGCTGAGCGCGGAGGGCCCGCGCGGGTGCGAGTCGCGGGTCTGGAGAGCATACCCGCACGCGGGCCTCGGTGAGGTTGGTCCACACGGCGATCTCCTCGCGCGTGCTCATGTCGGGGTAGCGGTTCCTCTGGAAGGTCGCCTCTAGCTCCTGTAGCTGCTGGCTGGTGAAGTGCGTGCGCTGCCGCCGCTGCTTCTTTTTCAGCGAACCGTCCTCTGGGGAGCCGCCGGGCAGCGAAGCCGAGGCCTTTTCTGAGTCTGGGGGCCAGGGTGGGGGCAGGTCACAGAGCGCCCAAGCCAGCGCATATTCTCCGGCTCGGGGACCTCCTAAGCCACTCGCTGGCTCCCACCGGGGCTGCCCAGCCGGGGTCCCACCCGCACTGGGGATGAAGCTGTTATGTCCTGCACCCCCGGAAGGGGGCGCGCTTACCGCTGTGCTCCTGGCCCTTGCAGCCGTGCTCTGGGAGCTGGGGGTGCGGAGTGCCAGCGTCTGACAGCGACAGGGCAGGGCTCCGGGCCTCTGCCTCGCTGAGCAGGCCGAACTCCATGGAGGGAGGGCTCTGGAGGCGAGAGAAGACACAGACCAGGGTAATGGGGGTAAAATCTCCGGCTTAGCTAGGTCCCAGCAGCGTTTCCTCGTAAATTCCCTGGCGCCTTTCTCAACCCCAGCCGTAAAGCTGGGGCTGCGTGGGGCTCCTTAGGATAGAATCGGGAAATAGCATCCTAAGGACGCAGAGGTGCATGCTGAGAGGTTCTCTGCATAGATATATAAACTAGACTTCGTTTCGTTTACTGCTGGGAACTAGAACTGTGCCAGGTATACAGTTGGGGTTCAATATTTATTGAATTAATAAAAATGTAGACTATAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAATCCCGTCCCTACTAAAAATACAAAAATTGCTGGGCGGGGTGGCACGTGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGCGAGCCGAGATGGTGCTACTGCACTCCAGCCTGGGTGACAGAGCAAGATGCTGTCTCAAAAAACAACAACAACAAAATCTACACTATAGCACGCTACATACCCTATACTACATCTGCAAAAACTTAAAATCCTTCTCACCTGAATGCTTAGTATCCCCCTATACTCATACATGGTCCTCAGCCAATCATNNNNNNNNNNNNNNNNN
pathogenic
167,221
Regarding the variant found on chromosome 10 at position 102397405 in gene NFKB2 (nuclear factor kappa B subunit 2): is it benign or pathogenic? If pathogenic, identify the disease(s).
benign
CCCCCGGGGTTTATCAGCCGTGGCCTCCCTCCTGGCAGAAAATCCCAAGGTTGCTCCAGACCGGGGGAGGGGAGCGGGAGGCGGACTTGGCCCCAGACTGCCAGCCTCCTCCCGGCCGTGAAAGACCCTCCTGTTCCCTGCCCTGGAGGGAGGAGGGGGCTTAACCCCCACCGGGGCTTCCCGGATTCTCCTAGACCTCTGCCCGCTGAAAAGCAGCGGGAGCCCGTAGACTGTCGAGGGCCTCCCGCCCCTCCCGTCGCGAGGGCGGGGCCAGTGGCGTCATTTCCAGGCCCGCCCCCTCCGGCCCCGCCTCCCCTTGGTATTTTCGGGACTTTCCTAAGCTGCTCTAACTTTCCTGCCCCTTCCCCGGCCAAGCCCAACTCCGGATCTCGCTCTCCACCGGATCTCACCCGCCACACCCGGACAGGCGGCTGGAGGAGGTCGGACCCTCCCCCAAATCTGGGCCCCCATCTCCCGCCCACCCCCATTTAGATCTGACCCCCTCCCCCACGCCACTCCTCCCAACTTTAGGCGGGCGTCTAAAATTCTGGGAAGCAGAACCTGGCCGGAGCCACTAGACAGAGCCGGGCCTAGCCCAGAGACATGGAGAGTTGCTACAACCCAGTGAGTCATGCCGCCTGCCCCTGACCCGGCCGGCTGCCCCTCGTGTCTGTCCACCTGTCTGCCCGAGCCCCCTCTGCTGCCTTACACCTGTATGCTCGCAGATGCTCTCAGCCTGCCAGTCTGTCCATCTGTCTGCAACTCTGCCTCCAAAAGGAGCTTTCTCTTGGGTCTGAGGAGGAGGGGGGAGTGACCACTGAAGACTTGGAGATGGGAGGTGGGGCTGTGGGGGGTGCTGAGAGTCGGATGCCACCCCCAGTCTGTCTCCAAACCAGGGTCTGGATGGTATTATTGAATATGATGATTTCAAATTGAACTCCTCCATTGTGGAACCCAAGGAGCCAGCCCCAGAAACAGGTCAGCAAGTTCACTAACCTCCCCTAGTCCTAAAGCGGGGGAGGGAGAGCATGTGCCCTCTCTCTGGGGGAGGGGCTGGGAGATCGTGGCTCAGCAAGGTCTCTCTGTCCCCAGCTGATGGCCCCTACCTGGTGATCGTGGAACAGCCTAAGCAGGTGAGTGAGCAAAAGGGAGGGTGTGGAATGGCTTCAGCTTTGGGGACAAATGGGGTAGTGGTAGCTGGCTGGCCATGGAGGAGCCATTGCCGAAGGAGGCCACAGGGGATTGGATGGTCACTGCTGCTGATCAGAGTGCTGTAGTTTGGTTCAGGGCTACTACCAGGCACTGCGGTCACTGCTGGCCTGGGTGGTCTTCCCTGATCACAATGCTACTATGCCCTTGGACCTTCAGAGAGGCTTCCGATTTCGATATGGCTGTGAAGGCCCCTCCCATGGAGGACTGCCCGGTGCCTCCAGTGAGAAGGGCCGAAAGACCTATCCCACTGTCAAGGTGAGCCAGGATGGTGCTGGAGGGTGGGCTAAGTGGACAGCATGCCCAAGGCCCTGACTGACAGTCCCTGCCTCTCCTAGATCTGTAACTACGAGGGACCAGCCAAGATCGAGGTGGACCTGGTAACACACAGTGACCCACCTCGTGCTCATGCCCACAGTCTGGTGGGCAAGCAATGCTCGGAGCTGGGGATCTGCGCCGTTTCTGTGGGGCCCAAGGACATGACTGCCCAGTAGGTGCCCTCTACGCCTGGCCCCCACTGGTATGCCCGTCTGCCAGTCCCAGGCCCCAGCCCACCTCCATGAGCTTAGCATCTGACCAAGGGGAAAGATGTAGGTTGGCCCCAAACCCAAGGGCCTAAGTAGAAACTCCAATGGCTTCCTTGAGGAAGTAAGGCTGAGCTGAGCCCTGGCAATGGGAAAGGTGCCTCAGGAAGAAAGAACTGCATGGCCAAAGGCCTCCGATTCTCTCTTCTCAGATTTAACAACCTGGGTGTCCTGCATGTGACTAAGAAGAACATGATGGGGACTATGATACAAAAACTTCAGAGGCAGCGGCTCCGCTCTAGGCCCCAGGGCCTTACGGGTATGGGTGCAGGGGGTGGGTCGGGTATGGGTGCAGGGGGTGGGTGGGTCATGGGAGGTGCTCATGGAAGGAGCAGGGAGGGAGAAGCCCAGGGGTCACACATGTACCTACTGCCCAGAGGCCGAGCAGCGGGAGCTGGAGCAAGAGGCCAAAGAACTGAAGAAGGTGATGGATCTGAGTATAGTGCGGCTGCGCTTCTCTGCCTTCCTTAGAGCCAGTGATGGCTCCTTCTCCCTGCCCCTGAAGCCAGTCATCTCCCAGCCCATCCATGACAGCAGTGAGTATCCTGATTGCCTGGGGTGCCAGGCCTGGTGGCAGAGGTGGCATGAGGGGTGACCTCAAGCTGTGCAGTCAAACAGACCCAGGTTTCAGAACCTGGCCCTGCCACATATGAGCTGAGTGATCCTGAGCAAGTCATTTCCCCCCCGAAGCTTCTGTCTTTAGTAAATGTGTATATTGGGTGTTTCCTGCAGCTCCAGGGGTTGCTGAGATAAGGAATACAAAGCCCCCAGCTTCTTAAATGTGGCCTTGGCTATTGCATCATCTCAACTAATCCATATCCCACTCCATAGAATCTCCGGGGGCATCAAACCTGAAGATTTCTCGAATGGACAAGACAGCAGGCTCTGTGCGGGGTGGAGATGAAGTTTATCTGCTTTGTGACAAGGTGCAGAAAGGTGAGACTGGAGCCCACTTTGGGCACCAAGGACATCGAGTATAAGACTGGGGCCAGGGAAGCTCTAGGGTAAATGGCCCCAGAGATTCCACCGGGAGCTGTGGCCAAGCTTCCGTTTTCCTTGTAGATGACATTGAGGTTCGGTTCTATGAGGATGATGAGAATGGATGGCAGGCCTTTGGGGACTTCTCTCCCACAGATGTGCATAAACAGGTACCCAGGGCTAGGGCCCGGGCCCGGGCTGGGGGCTAAATTAGGCTAAGGACTCACTGACACCCTGTGTCTCCCTGCACCCCCCAGTATGCCATTGTGTTCCGGACACCCCCCTATCACAAGATGAAGATTGAGCGGCCTGTAACAGTGTTTCTGCAACTGAAACGCAAGCGAGGAGGGGACGTGTCTGATTCCAAACAGTTCACCTATTACCCTCTGGTGGAAGGTGGAGCTGGGCTGAGGACCTCAGGGTGCTGGCGGGGGGCCAGGCTGGGCTAGAAGAAGGTCCCAAGAGCTAGATGTGGGGATGCATGAGCCAAGTCAGAAGTGCGAGGGTCCCAGGAGGTGCTTCCTAGGAGCCGGCCCTGAGGGCTCTTCTGGGAAGGGCCCCTGAGGCATGACACAATAACTGGGCTCAATCTCATTTTCCTCTGCCCCCAGACAAGGAAGAGGTGCAGCGGAAGCGGAGGAAGGCCTTGCCCACCTTCTCCCAGCCCTTCGGGGGTGGCTCCCACATGGGTGGAGGCTCTGGGGGTGCAGCCGGGGGCTACGGAGGAGCTGGAGGAGGTGAGGGGGTACTGATGGAGGGAGGGGTAAAGGTAAGAGAAGCTGTGGAGGAAAAAAATCTGGGGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCAGCCCTTTGGGAGGCCAAGGCAGGCAGATTACCTGAGATCAGGAGTTCAAGACCAGCTTGGCCAACAGCGTGAAACCTCGTCTCTACTAAAAATACAAACATTAGCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGGAGACAAGAGGTTGCAGTAAGCTGAGATCACACCACTGCACTCCAGGCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAATCTGGGAGAGTCATGGCTGGTGCCCGCTTCCCACAGCCCTGCCTGTATCCACAGGTGGCAGCCTCGGTTTCTTCCCCTCCTCCCTGGCCTACAGCCCCTACCAGTCCGGCGCGGGCCCCATGGGCTGCTACCCGGGAGGCGGGGGCGGGGCGCAGATGGCCGCCACGGTGCCCAGCAGGGACTCCGGGGAGGAAGCCGCGGAGCCAAGCGCCCCCTCCA
CCCCCGGGGTTTATCAGCCGTGGCCTCCCTCCTGGCAGAAAATCCCAAGGTTGCTCCAGACCGGGGGAGGGGAGCGGGAGGCGGACTTGGCCCCAGACTGCCAGCCTCCTCCCGGCCGTGAAAGACCCTCCTGTTCCCTGCCCTGGAGGGAGGAGGGGGCTTAACCCCCACCGGGGCTTCCCGGATTCTCCTAGACCTCTGCCCGCTGAAAAGCAGCGGGAGCCCGTAGACTGTCGAGGGCCTCCCGCCCCTCCCGTCGCGAGGGCGGGGCCAGTGGCGTCATTTCCAGGCCCGCCCCCTCCGGCCCCGCCTCCCCTTGGTATTTTCGGGACTTTCCTAAGCTGCTCTAACTTTCCTGCCCCTTCCCCGGCCAAGCCCAACTCCGGATCTCGCTCTCCACCGGATCTCACCCGCCACACCCGGACAGGCGGCTGGAGGAGGTCGGACCCTCCCCCAAATCTGGGCCCCCATCTCCCGCCCACCCCCATTTAGATCTGACCCCCTCCCCCACGCCACTCCTCCCAACTTTAGGCGGGCGTCTAAAATTCTGGGAAGCAGAACCTGGCCGGAGCCACTAGACAGAGCCGGGCCTAGCCCAGAGACATGGAGAGTTGCTACAACCCAGTGAGTCATGCCGCCTGCCCCTGACCCGGCCGGCTGCCCCTCGTGTCTGTCCACCTGTCTGCCCGAGCCCCCTCTGCTGCCTTACACCTGTATGCTCGCAGATGCTCTCAGCCTGCCAGTCTGTCCATCTGTCTGCAACTCTGCCTCCAAAAGGAGCTTTCTCTTGGGTCTGAGGAGGAGGGGGGAGTGACCACTGAAGACTTGGAGATGGGAGGTGGGGCTGTGGGGGGTGCTGAGAGTCGGATGCCACCCCCAGTCTGTCTCCAAACCAGGGTCTGGATGGTATTATTGAATATGATGATTTCAAATTGAACTCCTCCATTGTGGAACCCAAGGAGCCAGCCCCAGAAACAGGTCAGCAAGTTCACTAACCTCCCCTAGTCCTAAAGCGGGGGAGGGAGAGCATGTGCCCTCTCTCTGGGGGAGGGGCTGGGAGATCGTGGCTCAGCAAGGTCTCTCTGTCCCCAGCTGATGGCCCCTACCTGGTGATCGTGGAACAGCCTAAGCAGGTGAGTGAGCAAAAGGGAGGGTGTGGAATGGCTTCAGCTTTGGGGACAAATGGGGTAGTGGTAGCTGGCTGGCCATGGAGGAGCCATTGCCGAAGGAGGCCACAGGGGATTGGATGGTCACTGCTGCTGATCAGAGTGCTGTAGTTTGGTTCAGGGCTACTACCAGGCACTGCGGTCACTGCTGGCCTGGGTGGTCTTCCCTGATCACAATGCTACTATGCCCTTGGACCTTCAGAGAGGCTTCCGATTTCGATATGGCTGTGAAGGCCCCTCCCATGGAGGACTGCCCGGTGCCTCCAGTGAGAAGGGCCGAAAGACCTATCCCACTGTCAAGGTGAGCCAGGATGGTGCTGGAGGGTGGGCTAAGTGGACAGCATGCCCAAGGCCCTGACTGACAGTCCCTGCCTCTCCTAGATCTGTAACTACGAGGGACCAGCCAAGATCGAGGTGGACCTGGTAACACACAGTGACCCACCTCGTGCTCATGCCCACAGTCTGGTGGGCAAGCAATGCTCGGAGCTGGGGATCTGCGCCGTTTCTGTGGGGCCCAAGGACATGACTGCCCAGTAGGTGCCCTCTACGCCTGGCCCCCACTGGTATGCCCGTCTGCCAGTCCCAGGCCCCAGCCCACCTCCATGAGCTTAGCATCTGACCAAGGGGAAAGATGTAGGTTGGCCCCAAACCCAAGGGCCTAAGTAGAAACTCCAATGGCTTCCTTGAGGAAGTAAGGCTGAGCTGAGCCCTGGCAATGGGAAAGGTGCCTCAGGAAGAAAGAACTGCATGGCCAAAGGCCTCCGATTCTCTCTTCTCAGATTTAACAACCTGGGTGTCCTGCATGTGACTAAGAAGAACATGATGGGGACTATGATACAAAAACTTCAGAGGCAGCGGCTCCGCTCTAGGCCCCAGGGCCTTACGGGTATGGGTGCAGGGGGTGGGTGGGTCATGGGAGGTGCTCATGGAAGGAGCAGGGAGGGAGAAGCCCAGGGGTCACACATGTACCTACTGCCCAGAGGCCGAGCAGCGGGAGCTGGAGCAAGAGGCCAAAGAACTGAAGAAGGTGATGGATCTGAGTATAGTGCGGCTGCGCTTCTCTGCCTTCCTTAGAGCCAGTGATGGCTCCTTCTCCCTGCCCCTGAAGCCAGTCATCTCCCAGCCCATCCATGACAGCAGTGAGTATCCTGATTGCCTGGGGTGCCAGGCCTGGTGGCAGAGGTGGCATGAGGGGTGACCTCAAGCTGTGCAGTCAAACAGACCCAGGTTTCAGAACCTGGCCCTGCCACATATGAGCTGAGTGATCCTGAGCAAGTCATTTCCCCCCCGAAGCTTCTGTCTTTAGTAAATGTGTATATTGGGTGTTTCCTGCAGCTCCAGGGGTTGCTGAGATAAGGAATACAAAGCCCCCAGCTTCTTAAATGTGGCCTTGGCTATTGCATCATCTCAACTAATCCATATCCCACTCCATAGAATCTCCGGGGGCATCAAACCTGAAGATTTCTCGAATGGACAAGACAGCAGGCTCTGTGCGGGGTGGAGATGAAGTTTATCTGCTTTGTGACAAGGTGCAGAAAGGTGAGACTGGAGCCCACTTTGGGCACCAAGGACATCGAGTATAAGACTGGGGCCAGGGAAGCTCTAGGGTAAATGGCCCCAGAGATTCCACCGGGAGCTGTGGCCAAGCTTCCGTTTTCCTTGTAGATGACATTGAGGTTCGGTTCTATGAGGATGATGAGAATGGATGGCAGGCCTTTGGGGACTTCTCTCCCACAGATGTGCATAAACAGGTACCCAGGGCTAGGGCCCGGGCCCGGGCTGGGGGCTAAATTAGGCTAAGGACTCACTGACACCCTGTGTCTCCCTGCACCCCCCAGTATGCCATTGTGTTCCGGACACCCCCCTATCACAAGATGAAGATTGAGCGGCCTGTAACAGTGTTTCTGCAACTGAAACGCAAGCGAGGAGGGGACGTGTCTGATTCCAAACAGTTCACCTATTACCCTCTGGTGGAAGGTGGAGCTGGGCTGAGGACCTCAGGGTGCTGGCGGGGGGCCAGGCTGGGCTAGAAGAAGGTCCCAAGAGCTAGATGTGGGGATGCATGAGCCAAGTCAGAAGTGCGAGGGTCCCAGGAGGTGCTTCCTAGGAGCCGGCCCTGAGGGCTCTTCTGGGAAGGGCCCCTGAGGCATGACACAATAACTGGGCTCAATCTCATTTTCCTCTGCCCCCAGACAAGGAAGAGGTGCAGCGGAAGCGGAGGAAGGCCTTGCCCACCTTCTCCCAGCCCTTCGGGGGTGGCTCCCACATGGGTGGAGGCTCTGGGGGTGCAGCCGGGGGCTACGGAGGAGCTGGAGGAGGTGAGGGGGTACTGATGGAGGGAGGGGTAAAGGTAAGAGAAGCTGTGGAGGAAAAAAATCTGGGGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCAGCCCTTTGGGAGGCCAAGGCAGGCAGATTACCTGAGATCAGGAGTTCAAGACCAGCTTGGCCAACAGCGTGAAACCTCGTCTCTACTAAAAATACAAACATTAGCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGGAGACAAGAGGTTGCAGTAAGCTGAGATCACACCACTGCACTCCAGGCTGGGCAATAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAATCTGGGAGAGTCATGGCTGGTGCCCGCTTCCCACAGCCCTGCCTGTATCCACAGGTGGCAGCCTCGGTTTCTTCCCCTCCTCCCTGGCCTACAGCCCCTACCAGTCCGGCGCGGGCCCCATGGGCTGCTACCCGGGAGGCGGGGGCGGGGCGCAGATGGCCGCCACGGTGCCCAGCAGGGACTCCGGGGAGGAAGCCGCGGAGCCAAGCGCCCCCTCCANNNNNNNNNNNNNNNNNNNNNNNN
benign
167,232
Is the chromosome 10, position 102504174 variant in SUFU clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma']
CTGGAGCACTGCCCCGCCCCTTCAAGAGGGAAAACAATATGGCGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCCTGACAGGCCGGGCCAGTGACAAAGAGCCGGCGGCTCAGGCTGAACCCCGGGAAGCGATCCTTTCGAGGAGGAGAGCCCAAGTCCCCTTATAGATAGGAAAGACGCAACTCACGTTGTCGATCACGACAGGCTGGTTGGCGATCACATCGTAGGACTCCATGGCAGAGGAATCTCTCCTTCTGGGGAAGGAACTGCCCAGCCGGGTCCGCCGCTAGCGCCACTGACACGCATGCGCAGTCTAGCCGCCGGTTCAGGGCGGCGAGGGAGCGGCCCGACCTCGCCTCTGAAGAACTACAATCCCCAGCAAGCTTTGCGCCTGGGTTAGCGATCTAGCTTGCTTTGTTGCCCGCCTAGTTTAAGATTGGGAGTCGCATTTCCAATGCGCAGTACCCTGGGATTTGTGGTCTCCCTAGATTAAACAGCCAGAGACACAGGTTGATGGTCATGTTGCATGCCTGGATCTGTAGTCCCTTTGAAGGAGTTCGCAGTGCATGCTGAGGTATGTAGTCTTCTCGAGTACTTGTCTGTAGTTCGGTTTGGATTGGTCGTAATTCATGGATGTTTGGATTTTGCAGATCAGCCCTGCCACTCCCCCCGACGTTCCCTTAGACAATATAAGGTTCTCATGTTTTTATTTGGGTCTGTAAGACTTTAATAAACATCTCCTAGCACCTCACACTCTAACAAAAAGGAAATGTTAACACACGTACGCGAGAGGACATATTCCTACAACAAAGGAAAACAATTTAAATTGCATAAAATTAGCTTTAAGTTTAAAAACCTGTACATTGTCGTTGCCTTTTGCATTTTCTTTTTTTCTGCATAACAGGCTAACATTGATCCGAAGATTGGCAATTGGAACTACTGGTATAGGTAATCTTTTGGTCATTAAAACATCATCTAAGGGTTTCAGAAACTGCTCGAGTATCTCTTTAATTTTCATAACGAGCTAGAATTGACACTGATGGTTGAGAAAATGGAGGTGAAGAGAGGTTATGTGTCACTGCTTTCAAATGAGCCCAGTGCATTTTTTTCTCTGGATTATGTTCTCCCCCAGCCCCCTTGAAATTTCAGGGACCTTTTTGTCAATAGCCCTAGAAAACATTAGATTTATTATCATCTATTAATACTAACGCCCCATGGATGAATGAATCAATCCATTGTCAGATTTATGTTTAAATCCTAGTTAGCAGCGCGTCAGCAAAACAGTAACAAATCCTTTGTTGGCGCACTTCTCGCTGCTTTCGTGGGACCTTAGCACCTCAGAGGGTGCTCAGCATCTCTAAACTTGGGTTCCTCCTAACACTAGGGGGAGACCAAGAGCCTTGGGACACTCCCAACACAGGGAGGGGAGGCGGGGCCTATTGTCAAGTCACACCTTCCCTGCCTGTGACTGGCACAGACATTAGCCAATGGGTGCTTGGATAGGGTGCGCCGGCGCCCCGCCCCCCTTAGCGCCCCGCCGCCCCGAGGCACCCTCTGGCAGACTCGGCGGCGGCGACAGCCTGGGCGGACAGTGCGCCGTGCGCAGGCGCGGAGCTAGACCTCGCTGCAGCCCCCATCGCCTCGGGGAGTCTCACCCACCGAGTCCGCCCGCTGGCCCGTCAGTGCTCTCCCCGTCGTTTGCCCTCTCCAGTTCCCCCAGTGCCTGCCCTACGCACCCCGATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGGCCCCACCGCGCCCCCGGCCCCTGGCCCGACTGCCCCCCCGGCCTTCGCTTCGCTCTTTCCCCCGGGACTGCACGCCATCTACGGAGAGTGCCGCCGCCTTTACCCTGACCAGCCGAACCCGCTCCAGGTTACCGCTATCGTCAAGTACTGGTATGCTCTGGGCCGCGGGGAGACGGACAGGCGCGGGCTGGAAAGGGTTAAAGCGCCGAGGGCGAAGTAATTTGTGGGAGGTGGGAGGAGGGGTAGAGAATGGTTAAAGCACTCAGAAGGAGGGCTTCTTGCTGCGAGGGAAGGAGTTAAGGCTCAAGTTGGGAATGGGGACAAAGGGGTTAACGGAGCCCGTGGGTACTGAGGGGTTAACCGGGATTAGGAGAATAGAGTGAGGACTGGGGGTGTGTGTAGGAGCAGAGGGGGGAACGGCAGGAGCGAGGGAACTGTAAACGTGGTGAAAAGAGGGGGCGCCTGTAGGGGGTCATTAGTGGGCGAGGGGAAGCCAAGCGGGGGCGGCCGAAGTGGGATGGGAGAGGCGAGGCGGGGCCTGGGGAGCATTTGAGAGGGCTTTGGAGGAGCGAAGCCGAAGAAGCTCAGAGGGCACGAGACTGCATAGAATGGGGGGTTCGGGGGGCCCAGGGCTCTCCTGTGGTGGGTAGGAGGGCCAAAGATGAGGGCCTGGTGCTTGTGGAGAGAGGAGGAGGTCTCCTTTTGATACCTTCCCGATTAGCTCAGACGTCGTATCAGGGCAAAGCTTTTGCTTTTGAAGTTTGACGGAGCAGCTCTTCCTGATAAACTTTTTGCTTACTCTGCACTGTTCTCTTTCTCCGTGCAGAGCTTCCTCCTAGCTCTGCAGTTGCTTCGCTTTAGGGCATTAGGTAGAGAGAACCATGGTTTGGCTTAGGATTGAAGGGGCCGACAGCTTCCCACCTCCAGTTGGAAATAAATGGTGGAGACTCTGGGACCCCAGCAGGGAGGAATTGTGCAGTGGGACATTAAGAGGAGCTTCTCGGCCATGGCCTGCAGTTTCTCCGGGGAGCTGAGAGTAACCCTCAAGTAGCTTTAGGGTAGGAATGGTCTTTTCTAATTTCCCATTCCTGTTTGCAGCCTGTTTCTTCCTTCAGCATTTGGGCAGAACAGATGTTCTGGGGACTCTGGAAAAGAACCTGTCCTCAAAGTCTTGCTGGACCAAAAACTGAGATATTGGTTGAAACTGTCCAGGACCACATTCATGCAGGCATTGTGTAAGATGATCTTCAATGAGTCTTGAAAGACTGTTCTGCAGCTGCTTGGGGGTGTAGCCAAAGGGTAGACCTGAAGGGGCAAGTGGACATCTTTGCTGGTTACCTCTCCTTTTAGGACTGAGTCTTCCTCCTGGTGAAAACCTGTTGCTTCCCCTGGACATCGGTGTCAGTAGGCTGTGCAGGGCTGAGGCCAGCTGCCCGCATCAATGGGAGGATGCCAAGAGGCCAACAGCGTGGAGAGCCTGGGGACCAGCCACCTGCTGTCTAGGGAGGATTGTAGGGAACAGCCTCCTCTGTCAGAGTAGACGGGAGGAGGTGGAACTGGTGTCGCAGTCCTCTCTCACTGGCGAACTGTTCTCTGGTTGAGAGGAGTTGTTGAAGAGCGCTTCTGAGTGGAAAGCAGCTCTTGCTAGCTTAATGACCCATTCTCATTGTGCCTTTATATTTAACTATGTGTTGTGATGAACTTGTTGTCATGTGTCAGGAGAAAAGTGGGCCTGGGCTGGGCACAGTGGCTCATGCATGTATTCCCACCACTTTGGGAGGCCTTGAGGATCCCTTGAGGCCAGGAGTTCGAGACCAGTGTGGGGAGCGTAGCCAGACCCTAACTCTGTTATTTGAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGGCCTGGCTCTGCCACGCTGTTTGTTCAGGCCTCATTTGAGTGTGAGGAGAAATCCCTACACAGATTCAGGCAACTATTTTTATGTCACCCAAGTAGCCATAAAGGATAGAATTGTATGTAAAAGGTATGAAAGCATGTGCAAAGGACT
CTGGAGCACTGCCCCGCCCCTTCAAGAGGGAAAACAATATGGCGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCCTGACAGGCCGGGCCAGTGACAAAGAGCCGGCGGCTCAGGCTGAACCCCGGGAAGCGATCCTTTCGAGGAGGAGAGCCCAAGTCCCCTTATAGATAGGAAAGACGCAACTCACGTTGTCGATCACGACAGGCTGGTTGGCGATCACATCGTAGGACTCCATGGCAGAGGAATCTCTCCTTCTGGGGAAGGAACTGCCCAGCCGGGTCCGCCGCTAGCGCCACTGACACGCATGCGCAGTCTAGCCGCCGGTTCAGGGCGGCGAGGGAGCGGCCCGACCTCGCCTCTGAAGAACTACAATCCCCAGCAAGCTTTGCGCCTGGGTTAGCGATCTAGCTTGCTTTGTTGCCCGCCTAGTTTAAGATTGGGAGTCGCATTTCCAATGCGCAGTACCCTGGGATTTGTGGTCTCCCTAGATTAAACAGCCAGAGACACAGGTTGATGGTCATGTTGCATGCCTGGATCTGTAGTCCCTTTGAAGGAGTTCGCAGTGCATGCTGAGGTATGTAGTCTTCTCGAGTACTTGTCTGTAGTTCGGTTTGGATTGGTCGTAATTCATGGATGTTTGGATTTTGCAGATCAGCCCTGCCACTCCCCCCGACGTTCCCTTAGACAATATAAGGTTCTCATGTTTTTATTTGGGTCTGTAAGACTTTAATAAACATCTCCTAGCACCTCACACTCTAACAAAAAGGAAATGTTAACACACGTACGCGAGAGGACATATTCCTACAACAAAGGAAAACAATTTAAATTGCATAAAATTAGCTTTAAGTTTAAAAACCTGTACATTGTCGTTGCCTTTTGCATTTTCTTTTTTTCTGCATAACAGGCTAACATTGATCCGAAGATTGGCAATTGGAACTACTGGTATAGGTAATCTTTTGGTCATTAAAACATCATCTAAGGGTTTCAGAAACTGCTCGAGTATCTCTTTAATTTTCATAACGAGCTAGAATTGACACTGATGGTTGAGAAAATGGAGGTGAAGAGAGGTTATGTGTCACTGCTTTCAAATGAGCCCAGTGCATTTTTTTCTCTGGATTATGTTCTCCCCCAGCCCCCTTGAAATTTCAGGGACCTTTTTGTCAATAGCCCTAGAAAACATTAGATTTATTATCATCTATTAATACTAACGCCCCATGGATGAATGAATCAATCCATTGTCAGATTTATGTTTAAATCCTAGTTAGCAGCGCGTCAGCAAAACAGTAACAAATCCTTTGTTGGCGCACTTCTCGCTGCTTTCGTGGGACCTTAGCACCTCAGAGGGTGCTCAGCATCTCTAAACTTGGGTTCCTCCTAACACTAGGGGGAGACCAAGAGCCTTGGGACACTCCCAACACAGGGAGGGGAGGCGGGGCCTATTGTCAAGTCACACCTTCCCTGCCTGTGACTGGCACAGACATTAGCCAATGGGTGCTTGGATAGGGTGCGCCGGCGCCCCGCCCCCCTTAGCGCCCCGCCGCCCCGAGGCACCCTCTGGCAGACTCGGCGGCGGCGACAGCCTGGGCGGACAGTGCGCCGTGCGCAGGCGCGGAGCTAGACCTCGCTGCAGCCCCCATCGCCTCGGGGAGTCTCACCCACCGAGTCCGCCCGCTGGCCCGTCAGTGCTCTCCCCGTCGTTTGCCCTCTCCAGTTCCCCCAGTGCCTGCCCTACGCACCCCGATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGGCCCCACCGCGCCCCCGGCCCCACCGCGCCCCCGGCCCCTGGCCCGACTGCCCCCCCGGCCTTCGCTTCGCTCTTTCCCCCGGGACTGCACGCCATCTACGGAGAGTGCCGCCGCCTTTACCCTGACCAGCCGAACCCGCTCCAGGTTACCGCTATCGTCAAGTACTGGTATGCTCTGGGCCGCGGGGAGACGGACAGGCGCGGGCTGGAAAGGGTTAAAGCGCCGAGGGCGAAGTAATTTGTGGGAGGTGGGAGGAGGGGTAGAGAATGGTTAAAGCACTCAGAAGGAGGGCTTCTTGCTGCGAGGGAAGGAGTTAAGGCTCAAGTTGGGAATGGGGACAAAGGGGTTAACGGAGCCCGTGGGTACTGAGGGGTTAACCGGGATTAGGAGAATAGAGTGAGGACTGGGGGTGTGTGTAGGAGCAGAGGGGGGAACGGCAGGAGCGAGGGAACTGTAAACGTGGTGAAAAGAGGGGGCGCCTGTAGGGGGTCATTAGTGGGCGAGGGGAAGCCAAGCGGGGGCGGCCGAAGTGGGATGGGAGAGGCGAGGCGGGGCCTGGGGAGCATTTGAGAGGGCTTTGGAGGAGCGAAGCCGAAGAAGCTCAGAGGGCACGAGACTGCATAGAATGGGGGGTTCGGGGGGCCCAGGGCTCTCCTGTGGTGGGTAGGAGGGCCAAAGATGAGGGCCTGGTGCTTGTGGAGAGAGGAGGAGGTCTCCTTTTGATACCTTCCCGATTAGCTCAGACGTCGTATCAGGGCAAAGCTTTTGCTTTTGAAGTTTGACGGAGCAGCTCTTCCTGATAAACTTTTTGCTTACTCTGCACTGTTCTCTTTCTCCGTGCAGAGCTTCCTCCTAGCTCTGCAGTTGCTTCGCTTTAGGGCATTAGGTAGAGAGAACCATGGTTTGGCTTAGGATTGAAGGGGCCGACAGCTTCCCACCTCCAGTTGGAAATAAATGGTGGAGACTCTGGGACCCCAGCAGGGAGGAATTGTGCAGTGGGACATTAAGAGGAGCTTCTCGGCCATGGCCTGCAGTTTCTCCGGGGAGCTGAGAGTAACCCTCAAGTAGCTTTAGGGTAGGAATGGTCTTTTCTAATTTCCCATTCCTGTTTGCAGCCTGTTTCTTCCTTCAGCATTTGGGCAGAACAGATGTTCTGGGGACTCTGGAAAAGAACCTGTCCTCAAAGTCTTGCTGGACCAAAAACTGAGATATTGGTTGAAACTGTCCAGGACCACATTCATGCAGGCATTGTGTAAGATGATCTTCAATGAGTCTTGAAAGACTGTTCTGCAGCTGCTTGGGGGTGTAGCCAAAGGGTAGACCTGAAGGGGCAAGTGGACATCTTTGCTGGTTACCTCTCCTTTTAGGACTGAGTCTTCCTCCTGGTGAAAACCTGTTGCTTCCCCTGGACATCGGTGTCAGTAGGCTGTGCAGGGCTGAGGCCAGCTGCCCGCATCAATGGGAGGATGCCAAGAGGCCAACAGCGTGGAGAGCCTGGGGACCAGCCACCTGCTGTCTAGGGAGGATTGTAGGGAACAGCCTCCTCTGTCAGAGTAGACGGGAGGAGGTGGAACTGGTGTCGCAGTCCTCTCTCACTGGCGAACTGTTCTCTGGTTGAGAGGAGTTGTTGAAGAGCGCTTCTGAGTGGAAAGCAGCTCTTGCTAGCTTAATGACCCATTCTCATTGTGCCTTTATATTTAACTATGTGTTGTGATGAACTTGTTGTCATGTGTCAGGAGAAAAGTGGGCCTGGGCTGGGCACAGTGGCTCATGCATGTATTCCCACCACTTTGGGAGGCCTTGAGGATCCCTTGAGGCCAGGAGTTCGAGACCAGTGTGGGGAGCGTAGCCAGACCCTAACTCTGTTATTTGAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGGCCTGGCTCTGCCACGCTGTTTGTTCAGGCCTCATTTGAGTGTGAGGAGAAATCCCTACACAGATTCAGGCAACTATTTTTATGTCACCCAAGTAGCCATAAAGGATAGAATTGTATGTAAAAGGTATGAA
pathogenic
167,268
Regarding the variant at chromosome 10 and position 102504174, affecting gene SUFU: benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Gorlin_syndrome', 'Medulloblastoma']
CTGGAGCACTGCCCCGCCCCTTCAAGAGGGAAAACAATATGGCGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCCTGACAGGCCGGGCCAGTGACAAAGAGCCGGCGGCTCAGGCTGAACCCCGGGAAGCGATCCTTTCGAGGAGGAGAGCCCAAGTCCCCTTATAGATAGGAAAGACGCAACTCACGTTGTCGATCACGACAGGCTGGTTGGCGATCACATCGTAGGACTCCATGGCAGAGGAATCTCTCCTTCTGGGGAAGGAACTGCCCAGCCGGGTCCGCCGCTAGCGCCACTGACACGCATGCGCAGTCTAGCCGCCGGTTCAGGGCGGCGAGGGAGCGGCCCGACCTCGCCTCTGAAGAACTACAATCCCCAGCAAGCTTTGCGCCTGGGTTAGCGATCTAGCTTGCTTTGTTGCCCGCCTAGTTTAAGATTGGGAGTCGCATTTCCAATGCGCAGTACCCTGGGATTTGTGGTCTCCCTAGATTAAACAGCCAGAGACACAGGTTGATGGTCATGTTGCATGCCTGGATCTGTAGTCCCTTTGAAGGAGTTCGCAGTGCATGCTGAGGTATGTAGTCTTCTCGAGTACTTGTCTGTAGTTCGGTTTGGATTGGTCGTAATTCATGGATGTTTGGATTTTGCAGATCAGCCCTGCCACTCCCCCCGACGTTCCCTTAGACAATATAAGGTTCTCATGTTTTTATTTGGGTCTGTAAGACTTTAATAAACATCTCCTAGCACCTCACACTCTAACAAAAAGGAAATGTTAACACACGTACGCGAGAGGACATATTCCTACAACAAAGGAAAACAATTTAAATTGCATAAAATTAGCTTTAAGTTTAAAAACCTGTACATTGTCGTTGCCTTTTGCATTTTCTTTTTTTCTGCATAACAGGCTAACATTGATCCGAAGATTGGCAATTGGAACTACTGGTATAGGTAATCTTTTGGTCATTAAAACATCATCTAAGGGTTTCAGAAACTGCTCGAGTATCTCTTTAATTTTCATAACGAGCTAGAATTGACACTGATGGTTGAGAAAATGGAGGTGAAGAGAGGTTATGTGTCACTGCTTTCAAATGAGCCCAGTGCATTTTTTTCTCTGGATTATGTTCTCCCCCAGCCCCCTTGAAATTTCAGGGACCTTTTTGTCAATAGCCCTAGAAAACATTAGATTTATTATCATCTATTAATACTAACGCCCCATGGATGAATGAATCAATCCATTGTCAGATTTATGTTTAAATCCTAGTTAGCAGCGCGTCAGCAAAACAGTAACAAATCCTTTGTTGGCGCACTTCTCGCTGCTTTCGTGGGACCTTAGCACCTCAGAGGGTGCTCAGCATCTCTAAACTTGGGTTCCTCCTAACACTAGGGGGAGACCAAGAGCCTTGGGACACTCCCAACACAGGGAGGGGAGGCGGGGCCTATTGTCAAGTCACACCTTCCCTGCCTGTGACTGGCACAGACATTAGCCAATGGGTGCTTGGATAGGGTGCGCCGGCGCCCCGCCCCCCTTAGCGCCCCGCCGCCCCGAGGCACCCTCTGGCAGACTCGGCGGCGGCGACAGCCTGGGCGGACAGTGCGCCGTGCGCAGGCGCGGAGCTAGACCTCGCTGCAGCCCCCATCGCCTCGGGGAGTCTCACCCACCGAGTCCGCCCGCTGGCCCGTCAGTGCTCTCCCCGTCGTTTGCCCTCTCCAGTTCCCCCAGTGCCTGCCCTACGCACCCCGATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGGCCCCACCGCGCCCCCGGCCCCTGGCCCGACTGCCCCCCCGGCCTTCGCTTCGCTCTTTCCCCCGGGACTGCACGCCATCTACGGAGAGTGCCGCCGCCTTTACCCTGACCAGCCGAACCCGCTCCAGGTTACCGCTATCGTCAAGTACTGGTATGCTCTGGGCCGCGGGGAGACGGACAGGCGCGGGCTGGAAAGGGTTAAAGCGCCGAGGGCGAAGTAATTTGTGGGAGGTGGGAGGAGGGGTAGAGAATGGTTAAAGCACTCAGAAGGAGGGCTTCTTGCTGCGAGGGAAGGAGTTAAGGCTCAAGTTGGGAATGGGGACAAAGGGGTTAACGGAGCCCGTGGGTACTGAGGGGTTAACCGGGATTAGGAGAATAGAGTGAGGACTGGGGGTGTGTGTAGGAGCAGAGGGGGGAACGGCAGGAGCGAGGGAACTGTAAACGTGGTGAAAAGAGGGGGCGCCTGTAGGGGGTCATTAGTGGGCGAGGGGAAGCCAAGCGGGGGCGGCCGAAGTGGGATGGGAGAGGCGAGGCGGGGCCTGGGGAGCATTTGAGAGGGCTTTGGAGGAGCGAAGCCGAAGAAGCTCAGAGGGCACGAGACTGCATAGAATGGGGGGTTCGGGGGGCCCAGGGCTCTCCTGTGGTGGGTAGGAGGGCCAAAGATGAGGGCCTGGTGCTTGTGGAGAGAGGAGGAGGTCTCCTTTTGATACCTTCCCGATTAGCTCAGACGTCGTATCAGGGCAAAGCTTTTGCTTTTGAAGTTTGACGGAGCAGCTCTTCCTGATAAACTTTTTGCTTACTCTGCACTGTTCTCTTTCTCCGTGCAGAGCTTCCTCCTAGCTCTGCAGTTGCTTCGCTTTAGGGCATTAGGTAGAGAGAACCATGGTTTGGCTTAGGATTGAAGGGGCCGACAGCTTCCCACCTCCAGTTGGAAATAAATGGTGGAGACTCTGGGACCCCAGCAGGGAGGAATTGTGCAGTGGGACATTAAGAGGAGCTTCTCGGCCATGGCCTGCAGTTTCTCCGGGGAGCTGAGAGTAACCCTCAAGTAGCTTTAGGGTAGGAATGGTCTTTTCTAATTTCCCATTCCTGTTTGCAGCCTGTTTCTTCCTTCAGCATTTGGGCAGAACAGATGTTCTGGGGACTCTGGAAAAGAACCTGTCCTCAAAGTCTTGCTGGACCAAAAACTGAGATATTGGTTGAAACTGTCCAGGACCACATTCATGCAGGCATTGTGTAAGATGATCTTCAATGAGTCTTGAAAGACTGTTCTGCAGCTGCTTGGGGGTGTAGCCAAAGGGTAGACCTGAAGGGGCAAGTGGACATCTTTGCTGGTTACCTCTCCTTTTAGGACTGAGTCTTCCTCCTGGTGAAAACCTGTTGCTTCCCCTGGACATCGGTGTCAGTAGGCTGTGCAGGGCTGAGGCCAGCTGCCCGCATCAATGGGAGGATGCCAAGAGGCCAACAGCGTGGAGAGCCTGGGGACCAGCCACCTGCTGTCTAGGGAGGATTGTAGGGAACAGCCTCCTCTGTCAGAGTAGACGGGAGGAGGTGGAACTGGTGTCGCAGTCCTCTCTCACTGGCGAACTGTTCTCTGGTTGAGAGGAGTTGTTGAAGAGCGCTTCTGAGTGGAAAGCAGCTCTTGCTAGCTTAATGACCCATTCTCATTGTGCCTTTATATTTAACTATGTGTTGTGATGAACTTGTTGTCATGTGTCAGGAGAAAAGTGGGCCTGGGCTGGGCACAGTGGCTCATGCATGTATTCCCACCACTTTGGGAGGCCTTGAGGATCCCTTGAGGCCAGGAGTTCGAGACCAGTGTGGGGAGCGTAGCCAGACCCTAACTCTGTTATTTGAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGGCCTGGCTCTGCCACGCTGTTTGTTCAGGCCTCATTTGAGTGTGAGGAGAAATCCCTACACAGATTCAGGCAACTATTTTTATGTCACCCAAGTAGCCATAAAGGATAGAATTGTATGTAAAAGGTATGAAAGCATGTGCAAAGGACT
CTGGAGCACTGCCCCGCCCCTTCAAGAGGGAAAACAATATGGCGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCCTGACAGGCCGGGCCAGTGACAAAGAGCCGGCGGCTCAGGCTGAACCCCGGGAAGCGATCCTTTCGAGGAGGAGAGCCCAAGTCCCCTTATAGATAGGAAAGACGCAACTCACGTTGTCGATCACGACAGGCTGGTTGGCGATCACATCGTAGGACTCCATGGCAGAGGAATCTCTCCTTCTGGGGAAGGAACTGCCCAGCCGGGTCCGCCGCTAGCGCCACTGACACGCATGCGCAGTCTAGCCGCCGGTTCAGGGCGGCGAGGGAGCGGCCCGACCTCGCCTCTGAAGAACTACAATCCCCAGCAAGCTTTGCGCCTGGGTTAGCGATCTAGCTTGCTTTGTTGCCCGCCTAGTTTAAGATTGGGAGTCGCATTTCCAATGCGCAGTACCCTGGGATTTGTGGTCTCCCTAGATTAAACAGCCAGAGACACAGGTTGATGGTCATGTTGCATGCCTGGATCTGTAGTCCCTTTGAAGGAGTTCGCAGTGCATGCTGAGGTATGTAGTCTTCTCGAGTACTTGTCTGTAGTTCGGTTTGGATTGGTCGTAATTCATGGATGTTTGGATTTTGCAGATCAGCCCTGCCACTCCCCCCGACGTTCCCTTAGACAATATAAGGTTCTCATGTTTTTATTTGGGTCTGTAAGACTTTAATAAACATCTCCTAGCACCTCACACTCTAACAAAAAGGAAATGTTAACACACGTACGCGAGAGGACATATTCCTACAACAAAGGAAAACAATTTAAATTGCATAAAATTAGCTTTAAGTTTAAAAACCTGTACATTGTCGTTGCCTTTTGCATTTTCTTTTTTTCTGCATAACAGGCTAACATTGATCCGAAGATTGGCAATTGGAACTACTGGTATAGGTAATCTTTTGGTCATTAAAACATCATCTAAGGGTTTCAGAAACTGCTCGAGTATCTCTTTAATTTTCATAACGAGCTAGAATTGACACTGATGGTTGAGAAAATGGAGGTGAAGAGAGGTTATGTGTCACTGCTTTCAAATGAGCCCAGTGCATTTTTTTCTCTGGATTATGTTCTCCCCCAGCCCCCTTGAAATTTCAGGGACCTTTTTGTCAATAGCCCTAGAAAACATTAGATTTATTATCATCTATTAATACTAACGCCCCATGGATGAATGAATCAATCCATTGTCAGATTTATGTTTAAATCCTAGTTAGCAGCGCGTCAGCAAAACAGTAACAAATCCTTTGTTGGCGCACTTCTCGCTGCTTTCGTGGGACCTTAGCACCTCAGAGGGTGCTCAGCATCTCTAAACTTGGGTTCCTCCTAACACTAGGGGGAGACCAAGAGCCTTGGGACACTCCCAACACAGGGAGGGGAGGCGGGGCCTATTGTCAAGTCACACCTTCCCTGCCTGTGACTGGCACAGACATTAGCCAATGGGTGCTTGGATAGGGTGCGCCGGCGCCCCGCCCCCCTTAGCGCCCCGCCGCCCCGAGGCACCCTCTGGCAGACTCGGCGGCGGCGACAGCCTGGGCGGACAGTGCGCCGTGCGCAGGCGCGGAGCTAGACCTCGCTGCAGCCCCCATCGCCTCGGGGAGTCTCACCCACCGAGTCCGCCCGCTGGCCCGTCAGTGCTCTCCCCGTCGTTTGCCCTCTCCAGTTCCCCCAGTGCCTGCCCTACGCACCCCGATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGGCCCCTGGCCCGACTGCCCCCCCGGCCTTCGCTTCGCTCTTTCCCCCGGGACTGCACGCCATCTACGGAGAGTGCCGCCGCCTTTACCCTGACCAGCCGAACCCGCTCCAGGTTACCGCTATCGTCAAGTACTGGTATGCTCTGGGCCGCGGGGAGACGGACAGGCGCGGGCTGGAAAGGGTTAAAGCGCCGAGGGCGAAGTAATTTGTGGGAGGTGGGAGGAGGGGTAGAGAATGGTTAAAGCACTCAGAAGGAGGGCTTCTTGCTGCGAGGGAAGGAGTTAAGGCTCAAGTTGGGAATGGGGACAAAGGGGTTAACGGAGCCCGTGGGTACTGAGGGGTTAACCGGGATTAGGAGAATAGAGTGAGGACTGGGGGTGTGTGTAGGAGCAGAGGGGGGAACGGCAGGAGCGAGGGAACTGTAAACGTGGTGAAAAGAGGGGGCGCCTGTAGGGGGTCATTAGTGGGCGAGGGGAAGCCAAGCGGGGGCGGCCGAAGTGGGATGGGAGAGGCGAGGCGGGGCCTGGGGAGCATTTGAGAGGGCTTTGGAGGAGCGAAGCCGAAGAAGCTCAGAGGGCACGAGACTGCATAGAATGGGGGGTTCGGGGGGCCCAGGGCTCTCCTGTGGTGGGTAGGAGGGCCAAAGATGAGGGCCTGGTGCTTGTGGAGAGAGGAGGAGGTCTCCTTTTGATACCTTCCCGATTAGCTCAGACGTCGTATCAGGGCAAAGCTTTTGCTTTTGAAGTTTGACGGAGCAGCTCTTCCTGATAAACTTTTTGCTTACTCTGCACTGTTCTCTTTCTCCGTGCAGAGCTTCCTCCTAGCTCTGCAGTTGCTTCGCTTTAGGGCATTAGGTAGAGAGAACCATGGTTTGGCTTAGGATTGAAGGGGCCGACAGCTTCCCACCTCCAGTTGGAAATAAATGGTGGAGACTCTGGGACCCCAGCAGGGAGGAATTGTGCAGTGGGACATTAAGAGGAGCTTCTCGGCCATGGCCTGCAGTTTCTCCGGGGAGCTGAGAGTAACCCTCAAGTAGCTTTAGGGTAGGAATGGTCTTTTCTAATTTCCCATTCCTGTTTGCAGCCTGTTTCTTCCTTCAGCATTTGGGCAGAACAGATGTTCTGGGGACTCTGGAAAAGAACCTGTCCTCAAAGTCTTGCTGGACCAAAAACTGAGATATTGGTTGAAACTGTCCAGGACCACATTCATGCAGGCATTGTGTAAGATGATCTTCAATGAGTCTTGAAAGACTGTTCTGCAGCTGCTTGGGGGTGTAGCCAAAGGGTAGACCTGAAGGGGCAAGTGGACATCTTTGCTGGTTACCTCTCCTTTTAGGACTGAGTCTTCCTCCTGGTGAAAACCTGTTGCTTCCCCTGGACATCGGTGTCAGTAGGCTGTGCAGGGCTGAGGCCAGCTGCCCGCATCAATGGGAGGATGCCAAGAGGCCAACAGCGTGGAGAGCCTGGGGACCAGCCACCTGCTGTCTAGGGAGGATTGTAGGGAACAGCCTCCTCTGTCAGAGTAGACGGGAGGAGGTGGAACTGGTGTCGCAGTCCTCTCTCACTGGCGAACTGTTCTCTGGTTGAGAGGAGTTGTTGAAGAGCGCTTCTGAGTGGAAAGCAGCTCTTGCTAGCTTAATGACCCATTCTCATTGTGCCTTTATATTTAACTATGTGTTGTGATGAACTTGTTGTCATGTGTCAGGAGAAAAGTGGGCCTGGGCTGGGCACAGTGGCTCATGCATGTATTCCCACCACTTTGGGAGGCCTTGAGGATCCCTTGAGGCCAGGAGTTCGAGACCAGTGTGGGGAGCGTAGCCAGACCCTAACTCTGTTATTTGAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGGCCTGGCTCTGCCACGCTGTTTGTTCAGGCCTCATTTGAGTGTGAGGAGAAATCCCTACACAGATTCAGGCAACTATTTTTATGTCACCCAAGTAGCCATAAAGGATAGAATTGTATGTAAAAGGTATGAAAGCATGTGCAAAGGACTNNNNNNNNNNNNNNNNN
pathogenic
167,269
Variant in SUFU, chromosome 10, position 102504216—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma']
CGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCCTGACAGGCCGGGCCAGTGACAAAGAGCCGGCGGCTCAGGCTGAACCCCGGGAAGCGATCCTTTCGAGGAGGAGAGCCCAAGTCCCCTTATAGATAGGAAAGACGCAACTCACGTTGTCGATCACGACAGGCTGGTTGGCGATCACATCGTAGGACTCCATGGCAGAGGAATCTCTCCTTCTGGGGAAGGAACTGCCCAGCCGGGTCCGCCGCTAGCGCCACTGACACGCATGCGCAGTCTAGCCGCCGGTTCAGGGCGGCGAGGGAGCGGCCCGACCTCGCCTCTGAAGAACTACAATCCCCAGCAAGCTTTGCGCCTGGGTTAGCGATCTAGCTTGCTTTGTTGCCCGCCTAGTTTAAGATTGGGAGTCGCATTTCCAATGCGCAGTACCCTGGGATTTGTGGTCTCCCTAGATTAAACAGCCAGAGACACAGGTTGATGGTCATGTTGCATGCCTGGATCTGTAGTCCCTTTGAAGGAGTTCGCAGTGCATGCTGAGGTATGTAGTCTTCTCGAGTACTTGTCTGTAGTTCGGTTTGGATTGGTCGTAATTCATGGATGTTTGGATTTTGCAGATCAGCCCTGCCACTCCCCCCGACGTTCCCTTAGACAATATAAGGTTCTCATGTTTTTATTTGGGTCTGTAAGACTTTAATAAACATCTCCTAGCACCTCACACTCTAACAAAAAGGAAATGTTAACACACGTACGCGAGAGGACATATTCCTACAACAAAGGAAAACAATTTAAATTGCATAAAATTAGCTTTAAGTTTAAAAACCTGTACATTGTCGTTGCCTTTTGCATTTTCTTTTTTTCTGCATAACAGGCTAACATTGATCCGAAGATTGGCAATTGGAACTACTGGTATAGGTAATCTTTTGGTCATTAAAACATCATCTAAGGGTTTCAGAAACTGCTCGAGTATCTCTTTAATTTTCATAACGAGCTAGAATTGACACTGATGGTTGAGAAAATGGAGGTGAAGAGAGGTTATGTGTCACTGCTTTCAAATGAGCCCAGTGCATTTTTTTCTCTGGATTATGTTCTCCCCCAGCCCCCTTGAAATTTCAGGGACCTTTTTGTCAATAGCCCTAGAAAACATTAGATTTATTATCATCTATTAATACTAACGCCCCATGGATGAATGAATCAATCCATTGTCAGATTTATGTTTAAATCCTAGTTAGCAGCGCGTCAGCAAAACAGTAACAAATCCTTTGTTGGCGCACTTCTCGCTGCTTTCGTGGGACCTTAGCACCTCAGAGGGTGCTCAGCATCTCTAAACTTGGGTTCCTCCTAACACTAGGGGGAGACCAAGAGCCTTGGGACACTCCCAACACAGGGAGGGGAGGCGGGGCCTATTGTCAAGTCACACCTTCCCTGCCTGTGACTGGCACAGACATTAGCCAATGGGTGCTTGGATAGGGTGCGCCGGCGCCCCGCCCCCCTTAGCGCCCCGCCGCCCCGAGGCACCCTCTGGCAGACTCGGCGGCGGCGACAGCCTGGGCGGACAGTGCGCCGTGCGCAGGCGCGGAGCTAGACCTCGCTGCAGCCCCCATCGCCTCGGGGAGTCTCACCCACCGAGTCCGCCCGCTGGCCCGTCAGTGCTCTCCCCGTCGTTTGCCCTCTCCAGTTCCCCCAGTGCCTGCCCTACGCACCCCGATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGGCCCCACCGCGCCCCCGGCCCCTGGCCCGACTGCCCCCCCGGCCTTCGCTTCGCTCTTTCCCCCGGGACTGCACGCCATCTACGGAGAGTGCCGCCGCCTTTACCCTGACCAGCCGAACCCGCTCCAGGTTACCGCTATCGTCAAGTACTGGTATGCTCTGGGCCGCGGGGAGACGGACAGGCGCGGGCTGGAAAGGGTTAAAGCGCCGAGGGCGAAGTAATTTGTGGGAGGTGGGAGGAGGGGTAGAGAATGGTTAAAGCACTCAGAAGGAGGGCTTCTTGCTGCGAGGGAAGGAGTTAAGGCTCAAGTTGGGAATGGGGACAAAGGGGTTAACGGAGCCCGTGGGTACTGAGGGGTTAACCGGGATTAGGAGAATAGAGTGAGGACTGGGGGTGTGTGTAGGAGCAGAGGGGGGAACGGCAGGAGCGAGGGAACTGTAAACGTGGTGAAAAGAGGGGGCGCCTGTAGGGGGTCATTAGTGGGCGAGGGGAAGCCAAGCGGGGGCGGCCGAAGTGGGATGGGAGAGGCGAGGCGGGGCCTGGGGAGCATTTGAGAGGGCTTTGGAGGAGCGAAGCCGAAGAAGCTCAGAGGGCACGAGACTGCATAGAATGGGGGGTTCGGGGGGCCCAGGGCTCTCCTGTGGTGGGTAGGAGGGCCAAAGATGAGGGCCTGGTGCTTGTGGAGAGAGGAGGAGGTCTCCTTTTGATACCTTCCCGATTAGCTCAGACGTCGTATCAGGGCAAAGCTTTTGCTTTTGAAGTTTGACGGAGCAGCTCTTCCTGATAAACTTTTTGCTTACTCTGCACTGTTCTCTTTCTCCGTGCAGAGCTTCCTCCTAGCTCTGCAGTTGCTTCGCTTTAGGGCATTAGGTAGAGAGAACCATGGTTTGGCTTAGGATTGAAGGGGCCGACAGCTTCCCACCTCCAGTTGGAAATAAATGGTGGAGACTCTGGGACCCCAGCAGGGAGGAATTGTGCAGTGGGACATTAAGAGGAGCTTCTCGGCCATGGCCTGCAGTTTCTCCGGGGAGCTGAGAGTAACCCTCAAGTAGCTTTAGGGTAGGAATGGTCTTTTCTAATTTCCCATTCCTGTTTGCAGCCTGTTTCTTCCTTCAGCATTTGGGCAGAACAGATGTTCTGGGGACTCTGGAAAAGAACCTGTCCTCAAAGTCTTGCTGGACCAAAAACTGAGATATTGGTTGAAACTGTCCAGGACCACATTCATGCAGGCATTGTGTAAGATGATCTTCAATGAGTCTTGAAAGACTGTTCTGCAGCTGCTTGGGGGTGTAGCCAAAGGGTAGACCTGAAGGGGCAAGTGGACATCTTTGCTGGTTACCTCTCCTTTTAGGACTGAGTCTTCCTCCTGGTGAAAACCTGTTGCTTCCCCTGGACATCGGTGTCAGTAGGCTGTGCAGGGCTGAGGCCAGCTGCCCGCATCAATGGGAGGATGCCAAGAGGCCAACAGCGTGGAGAGCCTGGGGACCAGCCACCTGCTGTCTAGGGAGGATTGTAGGGAACAGCCTCCTCTGTCAGAGTAGACGGGAGGAGGTGGAACTGGTGTCGCAGTCCTCTCTCACTGGCGAACTGTTCTCTGGTTGAGAGGAGTTGTTGAAGAGCGCTTCTGAGTGGAAAGCAGCTCTTGCTAGCTTAATGACCCATTCTCATTGTGCCTTTATATTTAACTATGTGTTGTGATGAACTTGTTGTCATGTGTCAGGAGAAAAGTGGGCCTGGGCTGGGCACAGTGGCTCATGCATGTATTCCCACCACTTTGGGAGGCCTTGAGGATCCCTTGAGGCCAGGAGTTCGAGACCAGTGTGGGGAGCGTAGCCAGACCCTAACTCTGTTATTTGAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGGCCTGGCTCTGCCACGCTGTTTGTTCAGGCCTCATTTGAGTGTGAGGAGAAATCCCTACACAGATTCAGGCAACTATTTTTATGTCACCCAAGTAGCCATAAAGGATAGAATTGTATGTAAAAGGTATGAAAGCATGTGCAAAGGACTAAGGGCAATTTTTTTTTCCTTCCTGCTGCAAGCTTGTTAACA
CGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCCTGACAGGCCGGGCCAGTGACAAAGAGCCGGCGGCTCAGGCTGAACCCCGGGAAGCGATCCTTTCGAGGAGGAGAGCCCAAGTCCCCTTATAGATAGGAAAGACGCAACTCACGTTGTCGATCACGACAGGCTGGTTGGCGATCACATCGTAGGACTCCATGGCAGAGGAATCTCTCCTTCTGGGGAAGGAACTGCCCAGCCGGGTCCGCCGCTAGCGCCACTGACACGCATGCGCAGTCTAGCCGCCGGTTCAGGGCGGCGAGGGAGCGGCCCGACCTCGCCTCTGAAGAACTACAATCCCCAGCAAGCTTTGCGCCTGGGTTAGCGATCTAGCTTGCTTTGTTGCCCGCCTAGTTTAAGATTGGGAGTCGCATTTCCAATGCGCAGTACCCTGGGATTTGTGGTCTCCCTAGATTAAACAGCCAGAGACACAGGTTGATGGTCATGTTGCATGCCTGGATCTGTAGTCCCTTTGAAGGAGTTCGCAGTGCATGCTGAGGTATGTAGTCTTCTCGAGTACTTGTCTGTAGTTCGGTTTGGATTGGTCGTAATTCATGGATGTTTGGATTTTGCAGATCAGCCCTGCCACTCCCCCCGACGTTCCCTTAGACAATATAAGGTTCTCATGTTTTTATTTGGGTCTGTAAGACTTTAATAAACATCTCCTAGCACCTCACACTCTAACAAAAAGGAAATGTTAACACACGTACGCGAGAGGACATATTCCTACAACAAAGGAAAACAATTTAAATTGCATAAAATTAGCTTTAAGTTTAAAAACCTGTACATTGTCGTTGCCTTTTGCATTTTCTTTTTTTCTGCATAACAGGCTAACATTGATCCGAAGATTGGCAATTGGAACTACTGGTATAGGTAATCTTTTGGTCATTAAAACATCATCTAAGGGTTTCAGAAACTGCTCGAGTATCTCTTTAATTTTCATAACGAGCTAGAATTGACACTGATGGTTGAGAAAATGGAGGTGAAGAGAGGTTATGTGTCACTGCTTTCAAATGAGCCCAGTGCATTTTTTTCTCTGGATTATGTTCTCCCCCAGCCCCCTTGAAATTTCAGGGACCTTTTTGTCAATAGCCCTAGAAAACATTAGATTTATTATCATCTATTAATACTAACGCCCCATGGATGAATGAATCAATCCATTGTCAGATTTATGTTTAAATCCTAGTTAGCAGCGCGTCAGCAAAACAGTAACAAATCCTTTGTTGGCGCACTTCTCGCTGCTTTCGTGGGACCTTAGCACCTCAGAGGGTGCTCAGCATCTCTAAACTTGGGTTCCTCCTAACACTAGGGGGAGACCAAGAGCCTTGGGACACTCCCAACACAGGGAGGGGAGGCGGGGCCTATTGTCAAGTCACACCTTCCCTGCCTGTGACTGGCACAGACATTAGCCAATGGGTGCTTGGATAGGGTGCGCCGGCGCCCCGCCCCCCTTAGCGCCCCGCCGCCCCGAGGCACCCTCTGGCAGACTCGGCGGCGGCGACAGCCTGGGCGGACAGTGCGCCGTGCGCAGGCGCGGAGCTAGACCTCGCTGCAGCCCCCATCGCCTCGGGGAGTCTCACCCACCGAGTCCGCCCGCTGGCCCGTCAGTGCTCTCCCCGTCGTTTGCCCTCTCCAGTTCCCCCAGTGCCTGCCCTACGCACCCCGATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGGCCCCACCGCGCCCCCGGCCCCTGGCCCGACTGCCCCCCCCGGCCTTCGCTTCGCTCTTTCCCCCGGGACTGCACGCCATCTACGGAGAGTGCCGCCGCCTTTACCCTGACCAGCCGAACCCGCTCCAGGTTACCGCTATCGTCAAGTACTGGTATGCTCTGGGCCGCGGGGAGACGGACAGGCGCGGGCTGGAAAGGGTTAAAGCGCCGAGGGCGAAGTAATTTGTGGGAGGTGGGAGGAGGGGTAGAGAATGGTTAAAGCACTCAGAAGGAGGGCTTCTTGCTGCGAGGGAAGGAGTTAAGGCTCAAGTTGGGAATGGGGACAAAGGGGTTAACGGAGCCCGTGGGTACTGAGGGGTTAACCGGGATTAGGAGAATAGAGTGAGGACTGGGGGTGTGTGTAGGAGCAGAGGGGGGAACGGCAGGAGCGAGGGAACTGTAAACGTGGTGAAAAGAGGGGGCGCCTGTAGGGGGTCATTAGTGGGCGAGGGGAAGCCAAGCGGGGGCGGCCGAAGTGGGATGGGAGAGGCGAGGCGGGGCCTGGGGAGCATTTGAGAGGGCTTTGGAGGAGCGAAGCCGAAGAAGCTCAGAGGGCACGAGACTGCATAGAATGGGGGGTTCGGGGGGCCCAGGGCTCTCCTGTGGTGGGTAGGAGGGCCAAAGATGAGGGCCTGGTGCTTGTGGAGAGAGGAGGAGGTCTCCTTTTGATACCTTCCCGATTAGCTCAGACGTCGTATCAGGGCAAAGCTTTTGCTTTTGAAGTTTGACGGAGCAGCTCTTCCTGATAAACTTTTTGCTTACTCTGCACTGTTCTCTTTCTCCGTGCAGAGCTTCCTCCTAGCTCTGCAGTTGCTTCGCTTTAGGGCATTAGGTAGAGAGAACCATGGTTTGGCTTAGGATTGAAGGGGCCGACAGCTTCCCACCTCCAGTTGGAAATAAATGGTGGAGACTCTGGGACCCCAGCAGGGAGGAATTGTGCAGTGGGACATTAAGAGGAGCTTCTCGGCCATGGCCTGCAGTTTCTCCGGGGAGCTGAGAGTAACCCTCAAGTAGCTTTAGGGTAGGAATGGTCTTTTCTAATTTCCCATTCCTGTTTGCAGCCTGTTTCTTCCTTCAGCATTTGGGCAGAACAGATGTTCTGGGGACTCTGGAAAAGAACCTGTCCTCAAAGTCTTGCTGGACCAAAAACTGAGATATTGGTTGAAACTGTCCAGGACCACATTCATGCAGGCATTGTGTAAGATGATCTTCAATGAGTCTTGAAAGACTGTTCTGCAGCTGCTTGGGGGTGTAGCCAAAGGGTAGACCTGAAGGGGCAAGTGGACATCTTTGCTGGTTACCTCTCCTTTTAGGACTGAGTCTTCCTCCTGGTGAAAACCTGTTGCTTCCCCTGGACATCGGTGTCAGTAGGCTGTGCAGGGCTGAGGCCAGCTGCCCGCATCAATGGGAGGATGCCAAGAGGCCAACAGCGTGGAGAGCCTGGGGACCAGCCACCTGCTGTCTAGGGAGGATTGTAGGGAACAGCCTCCTCTGTCAGAGTAGACGGGAGGAGGTGGAACTGGTGTCGCAGTCCTCTCTCACTGGCGAACTGTTCTCTGGTTGAGAGGAGTTGTTGAAGAGCGCTTCTGAGTGGAAAGCAGCTCTTGCTAGCTTAATGACCCATTCTCATTGTGCCTTTATATTTAACTATGTGTTGTGATGAACTTGTTGTCATGTGTCAGGAGAAAAGTGGGCCTGGGCTGGGCACAGTGGCTCATGCATGTATTCCCACCACTTTGGGAGGCCTTGAGGATCCCTTGAGGCCAGGAGTTCGAGACCAGTGTGGGGAGCGTAGCCAGACCCTAACTCTGTTATTTGAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGGCCTGGCTCTGCCACGCTGTTTGTTCAGGCCTCATTTGAGTGTGAGGAGAAATCCCTACACAGATTCAGGCAACTATTTTTATGTCACCCAAGTAGCCATAAAGGATAGAATTGTATGTAAAAGGTATGAAAGCATGTGCAAAGGACTAAGGGCAATTTTTTTTTCCTTCCTGCTGCAAGCTTGTTAAC
pathogenic
167,280
Chromosome 10, position 102504216, gene SUFU: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Basal_cell_nevus_syndrome_2', 'Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma']
CGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCCTGACAGGCCGGGCCAGTGACAAAGAGCCGGCGGCTCAGGCTGAACCCCGGGAAGCGATCCTTTCGAGGAGGAGAGCCCAAGTCCCCTTATAGATAGGAAAGACGCAACTCACGTTGTCGATCACGACAGGCTGGTTGGCGATCACATCGTAGGACTCCATGGCAGAGGAATCTCTCCTTCTGGGGAAGGAACTGCCCAGCCGGGTCCGCCGCTAGCGCCACTGACACGCATGCGCAGTCTAGCCGCCGGTTCAGGGCGGCGAGGGAGCGGCCCGACCTCGCCTCTGAAGAACTACAATCCCCAGCAAGCTTTGCGCCTGGGTTAGCGATCTAGCTTGCTTTGTTGCCCGCCTAGTTTAAGATTGGGAGTCGCATTTCCAATGCGCAGTACCCTGGGATTTGTGGTCTCCCTAGATTAAACAGCCAGAGACACAGGTTGATGGTCATGTTGCATGCCTGGATCTGTAGTCCCTTTGAAGGAGTTCGCAGTGCATGCTGAGGTATGTAGTCTTCTCGAGTACTTGTCTGTAGTTCGGTTTGGATTGGTCGTAATTCATGGATGTTTGGATTTTGCAGATCAGCCCTGCCACTCCCCCCGACGTTCCCTTAGACAATATAAGGTTCTCATGTTTTTATTTGGGTCTGTAAGACTTTAATAAACATCTCCTAGCACCTCACACTCTAACAAAAAGGAAATGTTAACACACGTACGCGAGAGGACATATTCCTACAACAAAGGAAAACAATTTAAATTGCATAAAATTAGCTTTAAGTTTAAAAACCTGTACATTGTCGTTGCCTTTTGCATTTTCTTTTTTTCTGCATAACAGGCTAACATTGATCCGAAGATTGGCAATTGGAACTACTGGTATAGGTAATCTTTTGGTCATTAAAACATCATCTAAGGGTTTCAGAAACTGCTCGAGTATCTCTTTAATTTTCATAACGAGCTAGAATTGACACTGATGGTTGAGAAAATGGAGGTGAAGAGAGGTTATGTGTCACTGCTTTCAAATGAGCCCAGTGCATTTTTTTCTCTGGATTATGTTCTCCCCCAGCCCCCTTGAAATTTCAGGGACCTTTTTGTCAATAGCCCTAGAAAACATTAGATTTATTATCATCTATTAATACTAACGCCCCATGGATGAATGAATCAATCCATTGTCAGATTTATGTTTAAATCCTAGTTAGCAGCGCGTCAGCAAAACAGTAACAAATCCTTTGTTGGCGCACTTCTCGCTGCTTTCGTGGGACCTTAGCACCTCAGAGGGTGCTCAGCATCTCTAAACTTGGGTTCCTCCTAACACTAGGGGGAGACCAAGAGCCTTGGGACACTCCCAACACAGGGAGGGGAGGCGGGGCCTATTGTCAAGTCACACCTTCCCTGCCTGTGACTGGCACAGACATTAGCCAATGGGTGCTTGGATAGGGTGCGCCGGCGCCCCGCCCCCCTTAGCGCCCCGCCGCCCCGAGGCACCCTCTGGCAGACTCGGCGGCGGCGACAGCCTGGGCGGACAGTGCGCCGTGCGCAGGCGCGGAGCTAGACCTCGCTGCAGCCCCCATCGCCTCGGGGAGTCTCACCCACCGAGTCCGCCCGCTGGCCCGTCAGTGCTCTCCCCGTCGTTTGCCCTCTCCAGTTCCCCCAGTGCCTGCCCTACGCACCCCGATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGGCCCCACCGCGCCCCCGGCCCCTGGCCCGACTGCCCCCCCGGCCTTCGCTTCGCTCTTTCCCCCGGGACTGCACGCCATCTACGGAGAGTGCCGCCGCCTTTACCCTGACCAGCCGAACCCGCTCCAGGTTACCGCTATCGTCAAGTACTGGTATGCTCTGGGCCGCGGGGAGACGGACAGGCGCGGGCTGGAAAGGGTTAAAGCGCCGAGGGCGAAGTAATTTGTGGGAGGTGGGAGGAGGGGTAGAGAATGGTTAAAGCACTCAGAAGGAGGGCTTCTTGCTGCGAGGGAAGGAGTTAAGGCTCAAGTTGGGAATGGGGACAAAGGGGTTAACGGAGCCCGTGGGTACTGAGGGGTTAACCGGGATTAGGAGAATAGAGTGAGGACTGGGGGTGTGTGTAGGAGCAGAGGGGGGAACGGCAGGAGCGAGGGAACTGTAAACGTGGTGAAAAGAGGGGGCGCCTGTAGGGGGTCATTAGTGGGCGAGGGGAAGCCAAGCGGGGGCGGCCGAAGTGGGATGGGAGAGGCGAGGCGGGGCCTGGGGAGCATTTGAGAGGGCTTTGGAGGAGCGAAGCCGAAGAAGCTCAGAGGGCACGAGACTGCATAGAATGGGGGGTTCGGGGGGCCCAGGGCTCTCCTGTGGTGGGTAGGAGGGCCAAAGATGAGGGCCTGGTGCTTGTGGAGAGAGGAGGAGGTCTCCTTTTGATACCTTCCCGATTAGCTCAGACGTCGTATCAGGGCAAAGCTTTTGCTTTTGAAGTTTGACGGAGCAGCTCTTCCTGATAAACTTTTTGCTTACTCTGCACTGTTCTCTTTCTCCGTGCAGAGCTTCCTCCTAGCTCTGCAGTTGCTTCGCTTTAGGGCATTAGGTAGAGAGAACCATGGTTTGGCTTAGGATTGAAGGGGCCGACAGCTTCCCACCTCCAGTTGGAAATAAATGGTGGAGACTCTGGGACCCCAGCAGGGAGGAATTGTGCAGTGGGACATTAAGAGGAGCTTCTCGGCCATGGCCTGCAGTTTCTCCGGGGAGCTGAGAGTAACCCTCAAGTAGCTTTAGGGTAGGAATGGTCTTTTCTAATTTCCCATTCCTGTTTGCAGCCTGTTTCTTCCTTCAGCATTTGGGCAGAACAGATGTTCTGGGGACTCTGGAAAAGAACCTGTCCTCAAAGTCTTGCTGGACCAAAAACTGAGATATTGGTTGAAACTGTCCAGGACCACATTCATGCAGGCATTGTGTAAGATGATCTTCAATGAGTCTTGAAAGACTGTTCTGCAGCTGCTTGGGGGTGTAGCCAAAGGGTAGACCTGAAGGGGCAAGTGGACATCTTTGCTGGTTACCTCTCCTTTTAGGACTGAGTCTTCCTCCTGGTGAAAACCTGTTGCTTCCCCTGGACATCGGTGTCAGTAGGCTGTGCAGGGCTGAGGCCAGCTGCCCGCATCAATGGGAGGATGCCAAGAGGCCAACAGCGTGGAGAGCCTGGGGACCAGCCACCTGCTGTCTAGGGAGGATTGTAGGGAACAGCCTCCTCTGTCAGAGTAGACGGGAGGAGGTGGAACTGGTGTCGCAGTCCTCTCTCACTGGCGAACTGTTCTCTGGTTGAGAGGAGTTGTTGAAGAGCGCTTCTGAGTGGAAAGCAGCTCTTGCTAGCTTAATGACCCATTCTCATTGTGCCTTTATATTTAACTATGTGTTGTGATGAACTTGTTGTCATGTGTCAGGAGAAAAGTGGGCCTGGGCTGGGCACAGTGGCTCATGCATGTATTCCCACCACTTTGGGAGGCCTTGAGGATCCCTTGAGGCCAGGAGTTCGAGACCAGTGTGGGGAGCGTAGCCAGACCCTAACTCTGTTATTTGAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGGCCTGGCTCTGCCACGCTGTTTGTTCAGGCCTCATTTGAGTGTGAGGAGAAATCCCTACACAGATTCAGGCAACTATTTTTATGTCACCCAAGTAGCCATAAAGGATAGAATTGTATGTAAAAGGTATGAAAGCATGTGCAAAGGACTAAGGGCAATTTTTTTTTCCTTCCTGCTGCAAGCTTGTTAACA
CGGCAAGGAAGAATGGCAGGGGCGTGAGCCAATCACCGCAGAGGCCTAGCCTCATCCGGCAAGGCTAAGAGGCGGTATCATTGGCTAAGATGGACAGCCAGAGCAACCAATAGAGCGATCGGAAATGGGGGAGAGGGCGGGCGACGGGAATCTCACACAGCGGTTAAGGCCCCTAGAGCCAAGGGCCCAAGGACTGGCTTGGACTATAACTCTTTCCTTTATCCACTCCAGAGTTCTCCATCCCACTTTTGCTGGCTGGCCGCCTTGCCTGCGGACTATGTGATAAGGGGAGGAAGGAGGCGGCGGTGGCTGAACGCGCCTGACAGGCCGGGCCAGTGACAAAGAGCCGGCGGCTCAGGCTGAACCCCGGGAAGCGATCCTTTCGAGGAGGAGAGCCCAAGTCCCCTTATAGATAGGAAAGACGCAACTCACGTTGTCGATCACGACAGGCTGGTTGGCGATCACATCGTAGGACTCCATGGCAGAGGAATCTCTCCTTCTGGGGAAGGAACTGCCCAGCCGGGTCCGCCGCTAGCGCCACTGACACGCATGCGCAGTCTAGCCGCCGGTTCAGGGCGGCGAGGGAGCGGCCCGACCTCGCCTCTGAAGAACTACAATCCCCAGCAAGCTTTGCGCCTGGGTTAGCGATCTAGCTTGCTTTGTTGCCCGCCTAGTTTAAGATTGGGAGTCGCATTTCCAATGCGCAGTACCCTGGGATTTGTGGTCTCCCTAGATTAAACAGCCAGAGACACAGGTTGATGGTCATGTTGCATGCCTGGATCTGTAGTCCCTTTGAAGGAGTTCGCAGTGCATGCTGAGGTATGTAGTCTTCTCGAGTACTTGTCTGTAGTTCGGTTTGGATTGGTCGTAATTCATGGATGTTTGGATTTTGCAGATCAGCCCTGCCACTCCCCCCGACGTTCCCTTAGACAATATAAGGTTCTCATGTTTTTATTTGGGTCTGTAAGACTTTAATAAACATCTCCTAGCACCTCACACTCTAACAAAAAGGAAATGTTAACACACGTACGCGAGAGGACATATTCCTACAACAAAGGAAAACAATTTAAATTGCATAAAATTAGCTTTAAGTTTAAAAACCTGTACATTGTCGTTGCCTTTTGCATTTTCTTTTTTTCTGCATAACAGGCTAACATTGATCCGAAGATTGGCAATTGGAACTACTGGTATAGGTAATCTTTTGGTCATTAAAACATCATCTAAGGGTTTCAGAAACTGCTCGAGTATCTCTTTAATTTTCATAACGAGCTAGAATTGACACTGATGGTTGAGAAAATGGAGGTGAAGAGAGGTTATGTGTCACTGCTTTCAAATGAGCCCAGTGCATTTTTTTCTCTGGATTATGTTCTCCCCCAGCCCCCTTGAAATTTCAGGGACCTTTTTGTCAATAGCCCTAGAAAACATTAGATTTATTATCATCTATTAATACTAACGCCCCATGGATGAATGAATCAATCCATTGTCAGATTTATGTTTAAATCCTAGTTAGCAGCGCGTCAGCAAAACAGTAACAAATCCTTTGTTGGCGCACTTCTCGCTGCTTTCGTGGGACCTTAGCACCTCAGAGGGTGCTCAGCATCTCTAAACTTGGGTTCCTCCTAACACTAGGGGGAGACCAAGAGCCTTGGGACACTCCCAACACAGGGAGGGGAGGCGGGGCCTATTGTCAAGTCACACCTTCCCTGCCTGTGACTGGCACAGACATTAGCCAATGGGTGCTTGGATAGGGTGCGCCGGCGCCCCGCCCCCCTTAGCGCCCCGCCGCCCCGAGGCACCCTCTGGCAGACTCGGCGGCGGCGACAGCCTGGGCGGACAGTGCGCCGTGCGCAGGCGCGGAGCTAGACCTCGCTGCAGCCCCCATCGCCTCGGGGAGTCTCACCCACCGAGTCCGCCCGCTGGCCCGTCAGTGCTCTCCCCGTCGTTTGCCCTCTCCAGTTCCCCCAGTGCCTGCCCTACGCACCCCGATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGGCCCCACCGCGCCCCCGGCCCCTGGCCCGACTGCCCCCCGGCCTTCGCTTCGCTCTTTCCCCCGGGACTGCACGCCATCTACGGAGAGTGCCGCCGCCTTTACCCTGACCAGCCGAACCCGCTCCAGGTTACCGCTATCGTCAAGTACTGGTATGCTCTGGGCCGCGGGGAGACGGACAGGCGCGGGCTGGAAAGGGTTAAAGCGCCGAGGGCGAAGTAATTTGTGGGAGGTGGGAGGAGGGGTAGAGAATGGTTAAAGCACTCAGAAGGAGGGCTTCTTGCTGCGAGGGAAGGAGTTAAGGCTCAAGTTGGGAATGGGGACAAAGGGGTTAACGGAGCCCGTGGGTACTGAGGGGTTAACCGGGATTAGGAGAATAGAGTGAGGACTGGGGGTGTGTGTAGGAGCAGAGGGGGGAACGGCAGGAGCGAGGGAACTGTAAACGTGGTGAAAAGAGGGGGCGCCTGTAGGGGGTCATTAGTGGGCGAGGGGAAGCCAAGCGGGGGCGGCCGAAGTGGGATGGGAGAGGCGAGGCGGGGCCTGGGGAGCATTTGAGAGGGCTTTGGAGGAGCGAAGCCGAAGAAGCTCAGAGGGCACGAGACTGCATAGAATGGGGGGTTCGGGGGGCCCAGGGCTCTCCTGTGGTGGGTAGGAGGGCCAAAGATGAGGGCCTGGTGCTTGTGGAGAGAGGAGGAGGTCTCCTTTTGATACCTTCCCGATTAGCTCAGACGTCGTATCAGGGCAAAGCTTTTGCTTTTGAAGTTTGACGGAGCAGCTCTTCCTGATAAACTTTTTGCTTACTCTGCACTGTTCTCTTTCTCCGTGCAGAGCTTCCTCCTAGCTCTGCAGTTGCTTCGCTTTAGGGCATTAGGTAGAGAGAACCATGGTTTGGCTTAGGATTGAAGGGGCCGACAGCTTCCCACCTCCAGTTGGAAATAAATGGTGGAGACTCTGGGACCCCAGCAGGGAGGAATTGTGCAGTGGGACATTAAGAGGAGCTTCTCGGCCATGGCCTGCAGTTTCTCCGGGGAGCTGAGAGTAACCCTCAAGTAGCTTTAGGGTAGGAATGGTCTTTTCTAATTTCCCATTCCTGTTTGCAGCCTGTTTCTTCCTTCAGCATTTGGGCAGAACAGATGTTCTGGGGACTCTGGAAAAGAACCTGTCCTCAAAGTCTTGCTGGACCAAAAACTGAGATATTGGTTGAAACTGTCCAGGACCACATTCATGCAGGCATTGTGTAAGATGATCTTCAATGAGTCTTGAAAGACTGTTCTGCAGCTGCTTGGGGGTGTAGCCAAAGGGTAGACCTGAAGGGGCAAGTGGACATCTTTGCTGGTTACCTCTCCTTTTAGGACTGAGTCTTCCTCCTGGTGAAAACCTGTTGCTTCCCCTGGACATCGGTGTCAGTAGGCTGTGCAGGGCTGAGGCCAGCTGCCCGCATCAATGGGAGGATGCCAAGAGGCCAACAGCGTGGAGAGCCTGGGGACCAGCCACCTGCTGTCTAGGGAGGATTGTAGGGAACAGCCTCCTCTGTCAGAGTAGACGGGAGGAGGTGGAACTGGTGTCGCAGTCCTCTCTCACTGGCGAACTGTTCTCTGGTTGAGAGGAGTTGTTGAAGAGCGCTTCTGAGTGGAAAGCAGCTCTTGCTAGCTTAATGACCCATTCTCATTGTGCCTTTATATTTAACTATGTGTTGTGATGAACTTGTTGTCATGTGTCAGGAGAAAAGTGGGCCTGGGCTGGGCACAGTGGCTCATGCATGTATTCCCACCACTTTGGGAGGCCTTGAGGATCCCTTGAGGCCAGGAGTTCGAGACCAGTGTGGGGAGCGTAGCCAGACCCTAACTCTGTTATTTGAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGGGCCTGGCTCTGCCACGCTGTTTGTTCAGGCCTCATTTGAGTGTGAGGAGAAATCCCTACACAGATTCAGGCAACTATTTTTATGTCACCCAAGTAGCCATAAAGGATAGAATTGTATGTAAAAGGTATGAAAGCATGTGCAAAGGACTAAGGGCAATTTTTTTTTCCTTCCTGCTGCAAGCTTGTTAACAN
pathogenic
167,281
The mutation impacting SUFU (SUFU negative regulator of hedgehog signaling) on chromosome 10 at position 102592711: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma']
AGTTGATATTAATTCTTCTCTAAATCTTTGGCAGAATTTACCAGTGGAGTCATCTGGTGGACCTGGACTGTTTGTATTGTGTATGTTGTTGGTGGGGGTTAATTACTTATTCATTCCTTTTACCTGTTGCATTGTTTCTTGCTTGCAGAACATGCAGGTTGCTTGTAGAAACACACTTACGTAAAAGGAGAGAGATTCTGGGAAGAGTGGGCCTAGCAGGAATTTGGAAATTTAGGGGTTTCTAGTTGGCTCTACCTGAAGCTGTGCCTTCTCCTCTCCCCTGTATTATCACATCTCAGATGAAGCAGTCTTCCTTCTCCTGCCTGAATGAACACTATTGAGGTTAGGACCAATAACTGAAGCCGTATCTTGGATGGAAAAGGTGTGTCTGTGTGTGTATGTGTGTGTTCTGCCTTACCTTAAATATTGATAAAAAGTGAAGAAAGATACCTCAACTGTTGAGATTCCGAGATCGTGAATGACAGACCATAGTGAACTCTGGAACAGCCATTTAAAGAATGAGATAGCTCTCCATATGCTGAGAAGCAGTGATCTCTGCTGGGTGCTGTGGCTCATACTTGTAATCCCCGCACTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACACCGTGAAATCCCACCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACATGCCAGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTGCAGCCTGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGGTGATCTCGTGCTCACTTCAGCAGCACATATACTAAAATTGGAACGATACAGAGAAGATTAGTATGGCCCCTGCGCAAGGATGACATGCAAATTCGTGAAGTGTTCCATATTAAAAAAAAAAAGGTGCTGTCTAAGATATATAATTAAGTGAAATCTGCAGAATAGTGTGCTTCCATTTGTGTAAGGACAAAACATGGAAGGGAGCCTGTGGATGCATAGGCTGGACATATAGAGCACCTTGGCACCCACGATGAGAGTCAGAGCTGGTGAGAGACTTAGTACCCTGTGGGGTTGTTTTCCCTTGTGGTTATGTGGCCTTAAACAAAACTCTCTCTAAAGTAACGTACCTGCTTGAAGTGCAGTGGTGAGCCTGTGTGTGAGGAGGCTATGCCCTCATGGCAACAGCTACCCTTGGCAGAATCTGAACATCTCAGAGACATGGCCTGAGGATCCTCATGAGTTGTCTCTGCCACGGTGTGGGAGGCACTATTTAGACCTCCATTTACTTGAAGCCTAGTGTTCCTCAGGAATTCCTACATCTGCCTGTGGGAAAATGGTGATAGATTTCAAAGGCTCTCCAAGGTTCGATGTTTCCTTCTGAGTGCCATTTCAGCAACATAGGAATTTCGGTCTGTTTCTCCAAGGTGAAGGGCTTTCATTGCCCTGTTGCCTCTCTGTGGACTTCTGGCCAGGTGGCCCTACAGAAAAGCACCTTATTCTTTCTTGGCAGATCCAGTCATGGCTCCTGCCTCCCACCATGAGTCGGGATATTGGGGAAGCGAAGCAGATGCCAGAAGTCTTTCTGGTTTCCCAGGCCGAAGGAGCTTTCACACTAATAGCCTGTCCTTTTCAAGTCTGACAGAACTGGCAAGCAGGAACAATTTAGGTTTTTGGAAATATCCACAAACTCTTTGCTTCCATCCGGAGTGAATGCTTCTCTTCCTTCACAGGGGCTACCCTAAGAGGCTGGGAAGCCTCCCAGCCTGGGCTAGTGAGATCCCAGCCCAGATTCCAGGCCTGGATCTGGGGCCTTGAACAATGAGGATCCTTGTATCTCTCCCACAGAGAACACCTTCTGCAGTGGGGACCATGTGTCCTGGCACAGCCCTTTGGATAACAGTGAGTCAAGAATTCAGCACATGCTGCTGACAGAGGACCCACAGATGCAGCCCGTGCAGACACCCTTTGGGGTAGTTACCTTCCTCCAGGTGAGGCACAGGTTGGACGCTGGCTCAAGCCTTCCTGTGGGAAGGGTCCTGGGAGGACAAGGAGGCTTGAGGAGGGGGAGTGAAGGGAGTGGGAGGTTTCCTTTGGCCTCGTCCTGATTTCTGTTTCCTCTGATGGTTTGTCAGGTAGATTCAGATGGTCTGATTTAACCTGCTGAGATGGGAGAGGGGAGAAAGGGAAGGGGGCATTTGGTTGGGAGAGAATGGCTGTAGCTGAGAGGGAGTAATGGGGTGGCGGGTATTCTTTGAACAGTGAAGACCCAGTCTCAGGAACAGGACTTTCCAGCGGGAAGCCAGCTCTGGGTCGTCCTTGCTCTTTGCCAGAAGCTGTGGGAACCTGCCCAGCTTTGACCAGTGCTTGTTTTTGGTCACGAAGTCTATGTGAAGGTTCCACTGATTCCCTTGATATTTACACAAAGGCCTATCCCCTAATAAGGAAGGGAGGAGTTTCTCTGCAGGCTGCTATGACCTATTGGTGGTGGTTCCAAGCCTGATAGGTCTCAAAGTCTCTTGTTTACATTCCCCATGATACCAGACTGGGTAGGAATGGCTCCCTGAACCTCCCCTACTTCCAGAGACATGGCCTGAGGACACATCTTGAGTTGCTCAGGCCTTGGTTTTCTCCTTTGTAGCTAAGAGCTAGACTTGGTGTCATCCAGACACAGCAAGGGCAAGGGTCAGGCCTCAGGGCCCACATGTGGACCCAGCCATTTCCCAGCCAGGCAGCCACTCCCTCCTAAGGGAATCATCCAATCTTGGCTGCACCAGCTCCTGAGCACAGATCCTGCCTGTGGTCTCCCAACTGGAGGTGACTCAGAGAGCCTGGGTAGCTGACCTTCTTGGGGTGGGGGGTGGCCATTAACACACAATGGGCTTTCTATCCTGGGCCTCAGATCGTTGGTGTCTGCACTGAAGAGCTACACTCAGCCCAGCAGTGGAACGGGCAGGGCATCCTGGAGCTGCTGCGGACAGTGCCTATGTGAGTACCCATGCAAGGTGGGAGCGCGGCTCCCTGGGCCTGGGGGTGGGAGTCCCTCCACTACCCTCCATGTGGGGCTCCCTCTTGCGTTGTTATTTCAGACCCTGGTTTTTCACATCAGGGCTTCCTGACGACTCACTCCCTGACAGTCCCTGACCACGAACTATTCCCCTGTGTCCTAGGCCTGGGGCAGCAAACAGGGCAGGCTGTAGGCCCAGCCCATCAGCCCCAGACCCTCAGTTACCATTGTATCCCCTTTCCTTGTCCACAGTGCTGGCGGCCCCTGGCTGATAACTGACATGCGGAGGGGAGAGACCATATTTGAGATCGATCCACACCTGCAAGTATGTCTTGAGTGAGGAAAACCTTTCTAGCACCCTGTGCCTAGGCCTCTTCCAAATAACACTGGCTTTCATCCTGGGAAAACAGAGGACCTTTATGTGTGAGTGAGTAGAAATATGGCATCACTTGGAACTTGTCCCCTGAATTCTGCAGAGCACGTAGGGAGCAGAGGTTTCAGCCCAGGAAAGCTAGTCCTCAGACATATGTATTTTGGCATTTTAAAAGGATATTTTTATTGTATGTAAATTATATATTGGCTTAAAAAATTAGATTGCCAGCAATAAAAGATAAGTGTAGTGGATATTGCTTGCTTGCCCAGTATTCATTCTCCTGCCTCCCAGACTTTCTTTTAGGGAGCCACCACGGCCACCACCGCCCTGTACCAGACAGTAGTGTAGGTGATACTGACTCCATGGCTCAGCTGCAGGAGTGAGGGCTGATTGGTCTAATGGTCCTATCCCCATTTTCGCCACATTTTCTATCTTGGACAGTCAGATGCAGAGCTCCTAGCCTGGAAAGATTGGCACCTTAGACACACAGGCTGGCAGCTGCCCACTCCCTGTGGCCCACCTGGACATTGTTTCAGTGTCATCTTTGCTGTTTTAGAAGCATTCCTTTGTCATGCAGGTAAAGTTTGAAAGCCACAAGAACGTAACTGCCTTTTCTTTTTTTGAGACGGAGTTTCGCTCTTCTCA
AGTTGATATTAATTCTTCTCTAAATCTTTGGCAGAATTTACCAGTGGAGTCATCTGGTGGACCTGGACTGTTTGTATTGTGTATGTTGTTGGTGGGGGTTAATTACTTATTCATTCCTTTTACCTGTTGCATTGTTTCTTGCTTGCAGAACATGCAGGTTGCTTGTAGAAACACACTTACGTAAAAGGAGAGAGATTCTGGGAAGAGTGGGCCTAGCAGGAATTTGGAAATTTAGGGGTTTCTAGTTGGCTCTACCTGAAGCTGTGCCTTCTCCTCTCCCCTGTATTATCACATCTCAGATGAAGCAGTCTTCCTTCTCCTGCCTGAATGAACACTATTGAGGTTAGGACCAATAACTGAAGCCGTATCTTGGATGGAAAAGGTGTGTCTGTGTGTGTATGTGTGTGTTCTGCCTTACCTTAAATATTGATAAAAAGTGAAGAAAGATACCTCAACTGTTGAGATTCCGAGATCGTGAATGACAGACCATAGTGAACTCTGGAACAGCCATTTAAAGAATGAGATAGCTCTCCATATGCTGAGAAGCAGTGATCTCTGCTGGGTGCTGTGGCTCATACTTGTAATCCCCGCACTTTGGGAGGCCGAGGAGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCTGGCTAACACCGTGAAATCCCACCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACATGCCAGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTGCAGCCTGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGGTGATCTCGTGCTCACTTCAGCAGCACATATACTAAAATTGGAACGATACAGAGAAGATTAGTATGGCCCCTGCGCAAGGATGACATGCAAATTCGTGAAGTGTTCCATATTAAAAAAAAAAAGGTGCTGTCTAAGATATATAATTAAGTGAAATCTGCAGAATAGTGTGCTTCCATTTGTGTAAGGACAAAACATGGAAGGGAGCCTGTGGATGCATAGGCTGGACATATAGAGCACCTTGGCACCCACGATGAGAGTCAGAGCTGGTGAGAGACTTAGTACCCTGTGGGGTTGTTTTCCCTTGTGGTTATGTGGCCTTAAACAAAACTCTCTCTAAAGTAACGTACCTGCTTGAAGTGCAGTGGTGAGCCTGTGTGTGAGGAGGCTATGCCCTCATGGCAACAGCTACCCTTGGCAGAATCTGAACATCTCAGAGACATGGCCTGAGGATCCTCATGAGTTGTCTCTGCCACGGTGTGGGAGGCACTATTTAGACCTCCATTTACTTGAAGCCTAGTGTTCCTCAGGAATTCCTACATCTGCCTGTGGGAAAATGGTGATAGATTTCAAAGGCTCTCCAAGGTTCGATGTTTCCTTCTGAGTGCCATTTCAGCAACATAGGAATTTCGGTCTGTTTCTCCAAGGTGAAGGGCTTTCATTGCCCTGTTGCCTCTCTGTGGACTTCTGGCCAGGTGGCCCTACAGAAAAGCACCTTATTCTTTCTTGGCAGATCCAGTCATGGCTCCTGCCTCCCACCATGAGTCGGGATATTGGGGAAGCGAAGCAGATGCCAGAAGTCTTTCTGGTTTCCCAGGCCGAAGGAGCTTTCACACTAATAGCCTGTCCTTTTCAAGTCTGACAGAACTGGCAAGCAGGAACAATTTAGGTTTTTGGAAATATCCACAAACTCTTTGCTTCCATCCGGAGTGAATGCTTCTCTTCCTTCACAGGGGCTACCCTAAGAGGCTGGGAAGCCTCCCAGCCTGGGCTAGTGAGATCCCAGCCCAGATTCCAGGCCTGGATCTGGGGCCTTGAACAATGAGGATCCTTGTATCTCTCCCACAGAGAACACCTTCTGCAGTGGGGACCATGTGTCCTGGCACAGCCCTTTGGATAACAGTGAGTCAAGAATTCAGCACATGCTGCTGACAGAGGACCCACAGATGCAGCCCGTGCAGACACCCTTTGGGGTAGTTATACCTTCCTCCAGGTGAGGCACAGGTTGGACGCTGGCTCAAGCCTTCCTGTGGGAAGGGTCCTGGGAGGACAAGGAGGCTTGAGGAGGGGGAGTGAAGGGAGTGGGAGGTTTCCTTTGGCCTCGTCCTGATTTCTGTTTCCTCTGATGGTTTGTCAGGTAGATTCAGATGGTCTGATTTAACCTGCTGAGATGGGAGAGGGGAGAAAGGGAAGGGGGCATTTGGTTGGGAGAGAATGGCTGTAGCTGAGAGGGAGTAATGGGGTGGCGGGTATTCTTTGAACAGTGAAGACCCAGTCTCAGGAACAGGACTTTCCAGCGGGAAGCCAGCTCTGGGTCGTCCTTGCTCTTTGCCAGAAGCTGTGGGAACCTGCCCAGCTTTGACCAGTGCTTGTTTTTGGTCACGAAGTCTATGTGAAGGTTCCACTGATTCCCTTGATATTTACACAAAGGCCTATCCCCTAATAAGGAAGGGAGGAGTTTCTCTGCAGGCTGCTATGACCTATTGGTGGTGGTTCCAAGCCTGATAGGTCTCAAAGTCTCTTGTTTACATTCCCCATGATACCAGACTGGGTAGGAATGGCTCCCTGAACCTCCCCTACTTCCAGAGACATGGCCTGAGGACACATCTTGAGTTGCTCAGGCCTTGGTTTTCTCCTTTGTAGCTAAGAGCTAGACTTGGTGTCATCCAGACACAGCAAGGGCAAGGGTCAGGCCTCAGGGCCCACATGTGGACCCAGCCATTTCCCAGCCAGGCAGCCACTCCCTCCTAAGGGAATCATCCAATCTTGGCTGCACCAGCTCCTGAGCACAGATCCTGCCTGTGGTCTCCCAACTGGAGGTGACTCAGAGAGCCTGGGTAGCTGACCTTCTTGGGGTGGGGGGTGGCCATTAACACACAATGGGCTTTCTATCCTGGGCCTCAGATCGTTGGTGTCTGCACTGAAGAGCTACACTCAGCCCAGCAGTGGAACGGGCAGGGCATCCTGGAGCTGCTGCGGACAGTGCCTATGTGAGTACCCATGCAAGGTGGGAGCGCGGCTCCCTGGGCCTGGGGGTGGGAGTCCCTCCACTACCCTCCATGTGGGGCTCCCTCTTGCGTTGTTATTTCAGACCCTGGTTTTTCACATCAGGGCTTCCTGACGACTCACTCCCTGACAGTCCCTGACCACGAACTATTCCCCTGTGTCCTAGGCCTGGGGCAGCAAACAGGGCAGGCTGTAGGCCCAGCCCATCAGCCCCAGACCCTCAGTTACCATTGTATCCCCTTTCCTTGTCCACAGTGCTGGCGGCCCCTGGCTGATAACTGACATGCGGAGGGGAGAGACCATATTTGAGATCGATCCACACCTGCAAGTATGTCTTGAGTGAGGAAAACCTTTCTAGCACCCTGTGCCTAGGCCTCTTCCAAATAACACTGGCTTTCATCCTGGGAAAACAGAGGACCTTTATGTGTGAGTGAGTAGAAATATGGCATCACTTGGAACTTGTCCCCTGAATTCTGCAGAGCACGTAGGGAGCAGAGGTTTCAGCCCAGGAAAGCTAGTCCTCAGACATATGTATTTTGGCATTTTAAAAGGATATTTTTATTGTATGTAAATTATATATTGGCTTAAAAAATTAGATTGCCAGCAATAAAAGATAAGTGTAGTGGATATTGCTTGCTTGCCCAGTATTCATTCTCCTGCCTCCCAGACTTTCTTTTAGGGAGCCACCACGGCCACCACCGCCCTGTACCAGACAGTAGTGTAGGTGATACTGACTCCATGGCTCAGCTGCAGGAGTGAGGGCTGATTGGTCTAATGGTCCTATCCCCATTTTCGCCACATTTTCTATCTTGGACAGTCAGATGCAGAGCTCCTAGCCTGGAAAGATTGGCACCTTAGACACACAGGCTGGCAGCTGCCCACTCCCTGTGGCCCACCTGGACATTGTTTCAGTGTCATCTTTGCTGTTTTAGAAGCATTCCTTTGTCATGCAGGTAAAGTTTGAAAGCCACAAGAACGTAACTGCCTTTTCTTTTTTTGAGACGGAGTTTCGCTCTTCT
pathogenic
167,354
Does the genetic variant at chromosome 10, position 102597223, impacting gene SUFU (SUFU negative regulator of hedgehog signaling), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma']
CACAGGCAGTTGCCGGGAGTTCCATGTGTTAGAGCAAGAGAAAGGTGGCAGATGGACATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCCTTTGCACTAGTAGGGTAAACAGCTGTCCTTCCATGCCAAGGGCTGTTCTTCCTAGTCTGCAGGATCCCCTGAGAGCAGCCCACAGGACCCGGAGCACCTAGTGGTCTTTGAAAGCAAGCCAGGGTCCCACAGGAACAAAGGACAGCTTTCTTTCCTGGTGGCTCTGTGCACCAAGTGTGAACTCCTCTGTATTCACTGTGCCTTTCTGGGGCCTGCTTGCTATCAGTCTCTTTAGAGCTGGCATATATTCCTGTGATTCAAGCTCTACACTAACCAGCTGTGTGCCCAAATAAGTCCCTCGCCTTCTGGGTCTTAACTTTTTCTTTTTACTTATAAAGTAAATAGCCCAGACAAGTTGAGCCAAGAATTGTCTGTCTGCAACTCTTTACCTAAGTGAGGGACCCCAGGGCAGCCAGTGCAGAGGAAAAAGCTCAGACTATCCCCTGAGCACACCAGGGTATACATGCTCCCTGCCCAGAGTACACAGAGCGCTTCCCTGCTTAGCCTCTTCCTGCTCGGAACCCACAGCTTTGCCCAGGCCAGCATTAGCACTTGAAAGGAGGAGATGACTGATGGGAAGGAGGCGTCTGGGGCAGAGCCACTTGCTGACTGGTCCCAGGAAATAAGGACAGTACCTGTACTTCTCCCACATGGGGCTTCTGGGCTGATCAGCAGGCCAGTGTGGTACCTGTGGAGCCGGGAAGCACAGATTATTGTTGAGATGCTCAGTCACAAGCTTGATTTGGCCCACATGGACATAGAGCCTTCCAGATGACTTTTAATTCAAGGTCCAGCATCAATGAACTGTGTTTTACCAGAAAATCCAGGGATGTTTTGAGTACAACTCTTCCTTGAAGCCATTTGGAGAGTGTTTGTACTCAGCAGTACCAAGGCCTGCACAAAGGCAGGGTCTCGATGGGGAGAGAAGGGTGTCTGCAGATAGTCACTGCACTCTAGGCCCCCATTTCAGTCTAAGAAATGGGAAGGAATCTCCATCCAGAGTCCTTTGCTAAACAAGGGAACCAATGCATCTAGGGAAGTCCAGCCTTTGTTCTCCAGTGGCTCTTCCCTGTGTGACCACACCCTCTAGCTGTTAGAAGGGGAAACTGCAGGTGTGGCCTGTTGCCTGTGGCAGGCTTCCACCCTGTTTTCTATAGCAGTGACTGGGAGGTTCTGCCTGAAGATCGGGAGGAGAGGAAGGATCACACCTCTCCTCAGAGAAGTAGGCTCTCTCATGGCCACATCAGCCCCACCAGCCAGCGTGGCGGGGACAGGTTTGGGGCTCTGAAACAGGTAGAGGCCATTGTGCTGGAAGGCTGATGGTAGAAGAGATGTTTCCCTTGGGATTTGCATTCCTCCTGGCTTCCCCTAATCCCTGGTTCCCCTGGAGGAGTCCAGGAGCTGGCAGAGACCATCATGCATTGGTAACCAGGGCAGAACAAGGTCAGAGATCCTGCTCTCCAGCATTTGTCCCATGCTCAGCACCACAAGGGCTCAGTAAATACTGTAAGAGCAGTGGCTGAAAGGGTGGTCACCTTGGGTCACCAGTTCTCTGAAAGAACTCTGGCTCTTTGGTTCTTTTCAAGCAGGAGAGAGTTGACAAAGGCATCGAGACAGATGGCTCCAACCTGAGTGGTGTCAGTGCCAAGTGTGCCTGGGATGACCTGAGCCGGCCCCCCGAGGATGACGAGGACAGCCGGAGCATCTGCATCGGCACACAGCCCCGGCGACTCTCTGGCAAAGGTGGGAGCCATCACTCAGCATTCCACCAGCCTTCCTCCTTCCTTTTCCCCAGGGCCTGGTTTCCAGTCTCTCTAGGATGGGTCTCTAACAAAAACAACCCATTCAATAGTTTATTTCCTGGCATGATTTAAACAGCAAGTGAAGTCTTCCAGCAGGGCGGAATTAAGGGAGCTTTATTGGCCCATTCCTAGTTGTGTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCAA
CACAGGCAGTTGCCGGGAGTTCCATGTGTTAGAGCAAGAGAAAGGTGGCAGATGGACATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCCTTTGCACTAGTAGGGTAAACAGCTGTCCTTCCATGCCAAGGGCTGTTCTTCCTAGTCTGCAGGATCCCCTGAGAGCAGCCCACAGGACCCGGAGCACCTAGTGGTCTTTGAAAGCAAGCCAGGGTCCCACAGGAACAAAGGACAGCTTTCTTTCCTGGTGGCTCTGTGCACCAAGTGTGAACTCCTCTGTATTCACTGTGCCTTTCTGGGGCCTGCTTGCTATCAGTCTCTTTAGAGCTGGCATATATTCCTGTGATTCAAGCTCTACACTAACCAGCTGTGTGCCCAAATAAGTCCCTCGCCTTCTGGGTCTTAACTTTTTCTTTTTACTTATAAAGTAAATAGCCCAGACAAGTTGAGCCAAGAATTGTCTGTCTGCAACTCTTTACCTAAGTGAGGGACCCCAGGGCAGCCAGTGCAGAGGAAAAAGCTCAGACTATCCCCTGAGCACACCAGGGTATACATGCTCCCTGCCCAGAGTACACAGAGCGCTTCCCTGCTTAGCCTCTTCCTGCTCGGAACCCACAGCTTTGCCCAGGCCAGCATTAGCACTTGAAAGGAGGAGATGACTGATGGGAAGGAGGCGTCTGGGGCAGAGCCACTTGCTGACTGGTCCCAGGAAATAAGGACAGTACCTGTACTTCTCCCACATGGGGCTTCTGGGCTGATCAGCAGGCCAGTGTGGTACCTGTGGAGCCGGGAAGCACAGATTATTGTTGAGATGCTCAGTCACAAGCTTGATTTGGCCCACATGGACATAGAGCCTTCCAGATGACTTTTAATTCAAGGTCCAGCATCAATGAACTGTGTTTTACCAGAAAATCCAGGGATGTTTTGAGTACAACTCTTCCTTGAAGCCATTTGGAGAGTGTTTGTACTCAGCAGTACCAAGGCCTGCACAAAGGCAGGGTCTCGATGGGGAGAGAAGGGTGTCTGCAGATAGTCACTGCACTCTAGGCCCCCATTTCAGTCTAAGAAATGGGAAGGAATCTCCATCCAGAGTCCTTTGCTAAACAAGGGAACCAATGCATCTAGGGAAGTCCAGCCTTTGTTCTCCAGTGGCTCTTCCCTGTGTGACCACACCCTCTAGCTGTTAGAAGGGGAAACTGCAGGTGTGGCCTGTTGCCTGTGGCAGGCTTCCACCCTGTTTTCTATAGCAGTGACTGGGAGGTTCTGCCTGAAGATCGGGAGGAGAGGAAGGATCACACCTCTCCTCAGAGAAGTAGGCTCTCTCATGGCCACATCAGCCCCACCAGCCAGCGTGGCGGGGACAGGTTTGGGGCTCTGAAACAGGTAGAGGCCATTGTGCTGGAAGGCTGATGGTAGAAGAGATGTTTCCCTTGGGATTTGCATTCCTCCTGGCTTCCCCTAATCCCTGGTTCCCCTGGAGGAGTCCAGGAGCTGGCAGAGACCATCATGCATTGGTAACCAGGGCAGAACAAGGTCAGAGATCCTGCTCTCCAGCATTTGTCCCATGCTCAGCACCACAAGGGCTCAGTAAATACTGTAAGAGCAGTGGCTGAAAGGGTGGTCACCTTGGGTCACCAGTTCTCTGAAAGAACTCTGGCTCTTTGGTTCTTTTCAAGCAGGAGAGAGTTGACAAAGGCATCGAGACAGATGGCTCCAACCTGAGTGGTGTCAGTGCCAAGTGTGCCTGGGATGACCTGAGCCGGCCCCCCCGAGGATGACGAGGACAGCCGGAGCATCTGCATCGGCACACAGCCCCGGCGACTCTCTGGCAAAGGTGGGAGCCATCACTCAGCATTCCACCAGCCTTCCTCCTTCCTTTTCCCCAGGGCCTGGTTTCCAGTCTCTCTAGGATGGGTCTCTAACAAAAACAACCCATTCAATAGTTTATTTCCTGGCATGATTTAAACAGCAAGTGAAGTCTTCCAGCAGGGCGGAATTAAGGGAGCTTTATTGGCCCATTCCTAGTTGTGTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCA
pathogenic
167,400
Is the genetic variant on chromosome 10, position 102597278, gene SUFU (SUFU negative regulator of hedgehog signaling), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma', 'SUFU-related_disorder']
ACATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCCTTTGCACTAGTAGGGTAAACAGCTGTCCTTCCATGCCAAGGGCTGTTCTTCCTAGTCTGCAGGATCCCCTGAGAGCAGCCCACAGGACCCGGAGCACCTAGTGGTCTTTGAAAGCAAGCCAGGGTCCCACAGGAACAAAGGACAGCTTTCTTTCCTGGTGGCTCTGTGCACCAAGTGTGAACTCCTCTGTATTCACTGTGCCTTTCTGGGGCCTGCTTGCTATCAGTCTCTTTAGAGCTGGCATATATTCCTGTGATTCAAGCTCTACACTAACCAGCTGTGTGCCCAAATAAGTCCCTCGCCTTCTGGGTCTTAACTTTTTCTTTTTACTTATAAAGTAAATAGCCCAGACAAGTTGAGCCAAGAATTGTCTGTCTGCAACTCTTTACCTAAGTGAGGGACCCCAGGGCAGCCAGTGCAGAGGAAAAAGCTCAGACTATCCCCTGAGCACACCAGGGTATACATGCTCCCTGCCCAGAGTACACAGAGCGCTTCCCTGCTTAGCCTCTTCCTGCTCGGAACCCACAGCTTTGCCCAGGCCAGCATTAGCACTTGAAAGGAGGAGATGACTGATGGGAAGGAGGCGTCTGGGGCAGAGCCACTTGCTGACTGGTCCCAGGAAATAAGGACAGTACCTGTACTTCTCCCACATGGGGCTTCTGGGCTGATCAGCAGGCCAGTGTGGTACCTGTGGAGCCGGGAAGCACAGATTATTGTTGAGATGCTCAGTCACAAGCTTGATTTGGCCCACATGGACATAGAGCCTTCCAGATGACTTTTAATTCAAGGTCCAGCATCAATGAACTGTGTTTTACCAGAAAATCCAGGGATGTTTTGAGTACAACTCTTCCTTGAAGCCATTTGGAGAGTGTTTGTACTCAGCAGTACCAAGGCCTGCACAAAGGCAGGGTCTCGATGGGGAGAGAAGGGTGTCTGCAGATAGTCACTGCACTCTAGGCCCCCATTTCAGTCTAAGAAATGGGAAGGAATCTCCATCCAGAGTCCTTTGCTAAACAAGGGAACCAATGCATCTAGGGAAGTCCAGCCTTTGTTCTCCAGTGGCTCTTCCCTGTGTGACCACACCCTCTAGCTGTTAGAAGGGGAAACTGCAGGTGTGGCCTGTTGCCTGTGGCAGGCTTCCACCCTGTTTTCTATAGCAGTGACTGGGAGGTTCTGCCTGAAGATCGGGAGGAGAGGAAGGATCACACCTCTCCTCAGAGAAGTAGGCTCTCTCATGGCCACATCAGCCCCACCAGCCAGCGTGGCGGGGACAGGTTTGGGGCTCTGAAACAGGTAGAGGCCATTGTGCTGGAAGGCTGATGGTAGAAGAGATGTTTCCCTTGGGATTTGCATTCCTCCTGGCTTCCCCTAATCCCTGGTTCCCCTGGAGGAGTCCAGGAGCTGGCAGAGACCATCATGCATTGGTAACCAGGGCAGAACAAGGTCAGAGATCCTGCTCTCCAGCATTTGTCCCATGCTCAGCACCACAAGGGCTCAGTAAATACTGTAAGAGCAGTGGCTGAAAGGGTGGTCACCTTGGGTCACCAGTTCTCTGAAAGAACTCTGGCTCTTTGGTTCTTTTCAAGCAGGAGAGAGTTGACAAAGGCATCGAGACAGATGGCTCCAACCTGAGTGGTGTCAGTGCCAAGTGTGCCTGGGATGACCTGAGCCGGCCCCCCGAGGATGACGAGGACAGCCGGAGCATCTGCATCGGCACACAGCCCCGGCGACTCTCTGGCAAAGGTGGGAGCCATCACTCAGCATTCCACCAGCCTTCCTCCTTCCTTTTCCCCAGGGCCTGGTTTCCAGTCTCTCTAGGATGGGTCTCTAACAAAAACAACCCATTCAATAGTTTATTTCCTGGCATGATTTAAACAGCAAGTGAAGTCTTCCAGCAGGGCGGAATTAAGGGAGCTTTATTGGCCCATTCCTAGTTGTGTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCAATCTGTACTCACTCAGCGCTTACATCTGGATGCGTAGAGTGGGCTCAGGACTGGCC
ACATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCCTTTGCACTAGTAGGGTAAACAGCTGTCCTTCCATGCCAAGGGCTGTTCTTCCTAGTCTGCAGGATCCCCTGAGAGCAGCCCACAGGACCCGGAGCACCTAGTGGTCTTTGAAAGCAAGCCAGGGTCCCACAGGAACAAAGGACAGCTTTCTTTCCTGGTGGCTCTGTGCACCAAGTGTGAACTCCTCTGTATTCACTGTGCCTTTCTGGGGCCTGCTTGCTATCAGTCTCTTTAGAGCTGGCATATATTCCTGTGATTCAAGCTCTACACTAACCAGCTGTGTGCCCAAATAAGTCCCTCGCCTTCTGGGTCTTAACTTTTTCTTTTTACTTATAAAGTAAATAGCCCAGACAAGTTGAGCCAAGAATTGTCTGTCTGCAACTCTTTACCTAAGTGAGGGACCCCAGGGCAGCCAGTGCAGAGGAAAAAGCTCAGACTATCCCCTGAGCACACCAGGGTATACATGCTCCCTGCCCAGAGTACACAGAGCGCTTCCCTGCTTAGCCTCTTCCTGCTCGGAACCCACAGCTTTGCCCAGGCCAGCATTAGCACTTGAAAGGAGGAGATGACTGATGGGAAGGAGGCGTCTGGGGCAGAGCCACTTGCTGACTGGTCCCAGGAAATAAGGACAGTACCTGTACTTCTCCCACATGGGGCTTCTGGGCTGATCAGCAGGCCAGTGTGGTACCTGTGGAGCCGGGAAGCACAGATTATTGTTGAGATGCTCAGTCACAAGCTTGATTTGGCCCACATGGACATAGAGCCTTCCAGATGACTTTTAATTCAAGGTCCAGCATCAATGAACTGTGTTTTACCAGAAAATCCAGGGATGTTTTGAGTACAACTCTTCCTTGAAGCCATTTGGAGAGTGTTTGTACTCAGCAGTACCAAGGCCTGCACAAAGGCAGGGTCTCGATGGGGAGAGAAGGGTGTCTGCAGATAGTCACTGCACTCTAGGCCCCCATTTCAGTCTAAGAAATGGGAAGGAATCTCCATCCAGAGTCCTTTGCTAAACAAGGGAACCAATGCATCTAGGGAAGTCCAGCCTTTGTTCTCCAGTGGCTCTTCCCTGTGTGACCACACCCTCTAGCTGTTAGAAGGGGAAACTGCAGGTGTGGCCTGTTGCCTGTGGCAGGCTTCCACCCTGTTTTCTATAGCAGTGACTGGGAGGTTCTGCCTGAAGATCGGGAGGAGAGGAAGGATCACACCTCTCCTCAGAGAAGTAGGCTCTCTCATGGCCACATCAGCCCCACCAGCCAGCGTGGCGGGGACAGGTTTGGGGCTCTGAAACAGGTAGAGGCCATTGTGCTGGAAGGCTGATGGTAGAAGAGATGTTTCCCTTGGGATTTGCATTCCTCCTGGCTTCCCCTAATCCCTGGTTCCCCTGGAGGAGTCCAGGAGCTGGCAGAGACCATCATGCATTGGTAACCAGGGCAGAACAAGGTCAGAGATCCTGCTCTCCAGCATTTGTCCCATGCTCAGCACCACAAGGGCTCAGTAAATACTGTAAGAGCAGTGGCTGAAAGGGTGGTCACCTTGGGTCACCAGTTCTCTGAAAGAACTCTGGCTCTTTGGTTCTTTTCAAGCAGGAGAGAGTTGACAAAGGCATCGAGACAGATGGCTCCAACCTGAGTGGTGTCAGTGCCAAGTGTGCCTGGGATGACCTGAGCCGGCCCCCCGAGGATGACGAGGACAGCCGGAGCATCTGCATCGGCACACAGCCCCGGCTGTGTGACTCTCTGGCAAAGGTGGGAGCCATCACTCAGCATTCCACCAGCCTTCCTCCTTCCTTTTCCCCAGGGCCTGGTTTCCAGTCTCTCTAGGATGGGTCTCTAACAAAAACAACCCATTCAATAGTTTATTTCCTGGCATGATTTAAACAGCAAGTGAAGTCTTCCAGCAGGGCGGAATTAAGGGAGCTTTATTGGCCCATTCCTAGTTGTGTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCAATCTGTACTCACTCAGCGCTTACATCTGGATGCGTAGAGTGGGCTCAGGAC
pathogenic
167,417
A mutation at chromosome position 102597279 on chromosome 10 in gene SUFU (SUFU negative regulator of hedgehog signaling): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma']
CATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCCTTTGCACTAGTAGGGTAAACAGCTGTCCTTCCATGCCAAGGGCTGTTCTTCCTAGTCTGCAGGATCCCCTGAGAGCAGCCCACAGGACCCGGAGCACCTAGTGGTCTTTGAAAGCAAGCCAGGGTCCCACAGGAACAAAGGACAGCTTTCTTTCCTGGTGGCTCTGTGCACCAAGTGTGAACTCCTCTGTATTCACTGTGCCTTTCTGGGGCCTGCTTGCTATCAGTCTCTTTAGAGCTGGCATATATTCCTGTGATTCAAGCTCTACACTAACCAGCTGTGTGCCCAAATAAGTCCCTCGCCTTCTGGGTCTTAACTTTTTCTTTTTACTTATAAAGTAAATAGCCCAGACAAGTTGAGCCAAGAATTGTCTGTCTGCAACTCTTTACCTAAGTGAGGGACCCCAGGGCAGCCAGTGCAGAGGAAAAAGCTCAGACTATCCCCTGAGCACACCAGGGTATACATGCTCCCTGCCCAGAGTACACAGAGCGCTTCCCTGCTTAGCCTCTTCCTGCTCGGAACCCACAGCTTTGCCCAGGCCAGCATTAGCACTTGAAAGGAGGAGATGACTGATGGGAAGGAGGCGTCTGGGGCAGAGCCACTTGCTGACTGGTCCCAGGAAATAAGGACAGTACCTGTACTTCTCCCACATGGGGCTTCTGGGCTGATCAGCAGGCCAGTGTGGTACCTGTGGAGCCGGGAAGCACAGATTATTGTTGAGATGCTCAGTCACAAGCTTGATTTGGCCCACATGGACATAGAGCCTTCCAGATGACTTTTAATTCAAGGTCCAGCATCAATGAACTGTGTTTTACCAGAAAATCCAGGGATGTTTTGAGTACAACTCTTCCTTGAAGCCATTTGGAGAGTGTTTGTACTCAGCAGTACCAAGGCCTGCACAAAGGCAGGGTCTCGATGGGGAGAGAAGGGTGTCTGCAGATAGTCACTGCACTCTAGGCCCCCATTTCAGTCTAAGAAATGGGAAGGAATCTCCATCCAGAGTCCTTTGCTAAACAAGGGAACCAATGCATCTAGGGAAGTCCAGCCTTTGTTCTCCAGTGGCTCTTCCCTGTGTGACCACACCCTCTAGCTGTTAGAAGGGGAAACTGCAGGTGTGGCCTGTTGCCTGTGGCAGGCTTCCACCCTGTTTTCTATAGCAGTGACTGGGAGGTTCTGCCTGAAGATCGGGAGGAGAGGAAGGATCACACCTCTCCTCAGAGAAGTAGGCTCTCTCATGGCCACATCAGCCCCACCAGCCAGCGTGGCGGGGACAGGTTTGGGGCTCTGAAACAGGTAGAGGCCATTGTGCTGGAAGGCTGATGGTAGAAGAGATGTTTCCCTTGGGATTTGCATTCCTCCTGGCTTCCCCTAATCCCTGGTTCCCCTGGAGGAGTCCAGGAGCTGGCAGAGACCATCATGCATTGGTAACCAGGGCAGAACAAGGTCAGAGATCCTGCTCTCCAGCATTTGTCCCATGCTCAGCACCACAAGGGCTCAGTAAATACTGTAAGAGCAGTGGCTGAAAGGGTGGTCACCTTGGGTCACCAGTTCTCTGAAAGAACTCTGGCTCTTTGGTTCTTTTCAAGCAGGAGAGAGTTGACAAAGGCATCGAGACAGATGGCTCCAACCTGAGTGGTGTCAGTGCCAAGTGTGCCTGGGATGACCTGAGCCGGCCCCCCGAGGATGACGAGGACAGCCGGAGCATCTGCATCGGCACACAGCCCCGGCGACTCTCTGGCAAAGGTGGGAGCCATCACTCAGCATTCCACCAGCCTTCCTCCTTCCTTTTCCCCAGGGCCTGGTTTCCAGTCTCTCTAGGATGGGTCTCTAACAAAAACAACCCATTCAATAGTTTATTTCCTGGCATGATTTAAACAGCAAGTGAAGTCTTCCAGCAGGGCGGAATTAAGGGAGCTTTATTGGCCCATTCCTAGTTGTGTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCAATCTGTACTCACTCAGCGCTTACATCTGGATGCGTAGAGTGGGCTCAGGACTGGCCA
CATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCCTTTGCACTAGTAGGGTAAACAGCTGTCCTTCCATGCCAAGGGCTGTTCTTCCTAGTCTGCAGGATCCCCTGAGAGCAGCCCACAGGACCCGGAGCACCTAGTGGTCTTTGAAAGCAAGCCAGGGTCCCACAGGAACAAAGGACAGCTTTCTTTCCTGGTGGCTCTGTGCACCAAGTGTGAACTCCTCTGTATTCACTGTGCCTTTCTGGGGCCTGCTTGCTATCAGTCTCTTTAGAGCTGGCATATATTCCTGTGATTCAAGCTCTACACTAACCAGCTGTGTGCCCAAATAAGTCCCTCGCCTTCTGGGTCTTAACTTTTTCTTTTTACTTATAAAGTAAATAGCCCAGACAAGTTGAGCCAAGAATTGTCTGTCTGCAACTCTTTACCTAAGTGAGGGACCCCAGGGCAGCCAGTGCAGAGGAAAAAGCTCAGACTATCCCCTGAGCACACCAGGGTATACATGCTCCCTGCCCAGAGTACACAGAGCGCTTCCCTGCTTAGCCTCTTCCTGCTCGGAACCCACAGCTTTGCCCAGGCCAGCATTAGCACTTGAAAGGAGGAGATGACTGATGGGAAGGAGGCGTCTGGGGCAGAGCCACTTGCTGACTGGTCCCAGGAAATAAGGACAGTACCTGTACTTCTCCCACATGGGGCTTCTGGGCTGATCAGCAGGCCAGTGTGGTACCTGTGGAGCCGGGAAGCACAGATTATTGTTGAGATGCTCAGTCACAAGCTTGATTTGGCCCACATGGACATAGAGCCTTCCAGATGACTTTTAATTCAAGGTCCAGCATCAATGAACTGTGTTTTACCAGAAAATCCAGGGATGTTTTGAGTACAACTCTTCCTTGAAGCCATTTGGAGAGTGTTTGTACTCAGCAGTACCAAGGCCTGCACAAAGGCAGGGTCTCGATGGGGAGAGAAGGGTGTCTGCAGATAGTCACTGCACTCTAGGCCCCCATTTCAGTCTAAGAAATGGGAAGGAATCTCCATCCAGAGTCCTTTGCTAAACAAGGGAACCAATGCATCTAGGGAAGTCCAGCCTTTGTTCTCCAGTGGCTCTTCCCTGTGTGACCACACCCTCTAGCTGTTAGAAGGGGAAACTGCAGGTGTGGCCTGTTGCCTGTGGCAGGCTTCCACCCTGTTTTCTATAGCAGTGACTGGGAGGTTCTGCCTGAAGATCGGGAGGAGAGGAAGGATCACACCTCTCCTCAGAGAAGTAGGCTCTCTCATGGCCACATCAGCCCCACCAGCCAGCGTGGCGGGGACAGGTTTGGGGCTCTGAAACAGGTAGAGGCCATTGTGCTGGAAGGCTGATGGTAGAAGAGATGTTTCCCTTGGGATTTGCATTCCTCCTGGCTTCCCCTAATCCCTGGTTCCCCTGGAGGAGTCCAGGAGCTGGCAGAGACCATCATGCATTGGTAACCAGGGCAGAACAAGGTCAGAGATCCTGCTCTCCAGCATTTGTCCCATGCTCAGCACCACAAGGGCTCAGTAAATACTGTAAGAGCAGTGGCTGAAAGGGTGGTCACCTTGGGTCACCAGTTCTCTGAAAGAACTCTGGCTCTTTGGTTCTTTTCAAGCAGGAGAGAGTTGACAAAGGCATCGAGACAGATGGCTCCAACCTGAGTGGTGTCAGTGCCAAGTGTGCCTGGGATGACCTGAGCCGGCCCCCCGAGGATGACGAGGACAGCCGGAGCATCTGCATCGGCACACAGCCCCGGCGAAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACACTCTCTGGCAAAGGTGGGAGCCATCACTCAGCATTCCACCAGCCTTCCTCCTTCCTTTTCCCCAGGGCCTGGTTTCCAGTCTCTCTAGGATGGGTCTCTAACAAAAACAACCCATTCAATAGTTTATTTCCTGGCATGATTTAAACAGCAAGTGAAGTCTTCCAGCAGGGCGGAATTAAGGGAGCTTTATTGGCCCATTCCTAGTTGTGTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCAATCTGTACTCACT
pathogenic
167,419
Is the genetic change at chromosome 10, position 102597280, within gene SUFU (SUFU negative regulator of hedgehog signaling) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
ATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCCTTTGCACTAGTAGGGTAAACAGCTGTCCTTCCATGCCAAGGGCTGTTCTTCCTAGTCTGCAGGATCCCCTGAGAGCAGCCCACAGGACCCGGAGCACCTAGTGGTCTTTGAAAGCAAGCCAGGGTCCCACAGGAACAAAGGACAGCTTTCTTTCCTGGTGGCTCTGTGCACCAAGTGTGAACTCCTCTGTATTCACTGTGCCTTTCTGGGGCCTGCTTGCTATCAGTCTCTTTAGAGCTGGCATATATTCCTGTGATTCAAGCTCTACACTAACCAGCTGTGTGCCCAAATAAGTCCCTCGCCTTCTGGGTCTTAACTTTTTCTTTTTACTTATAAAGTAAATAGCCCAGACAAGTTGAGCCAAGAATTGTCTGTCTGCAACTCTTTACCTAAGTGAGGGACCCCAGGGCAGCCAGTGCAGAGGAAAAAGCTCAGACTATCCCCTGAGCACACCAGGGTATACATGCTCCCTGCCCAGAGTACACAGAGCGCTTCCCTGCTTAGCCTCTTCCTGCTCGGAACCCACAGCTTTGCCCAGGCCAGCATTAGCACTTGAAAGGAGGAGATGACTGATGGGAAGGAGGCGTCTGGGGCAGAGCCACTTGCTGACTGGTCCCAGGAAATAAGGACAGTACCTGTACTTCTCCCACATGGGGCTTCTGGGCTGATCAGCAGGCCAGTGTGGTACCTGTGGAGCCGGGAAGCACAGATTATTGTTGAGATGCTCAGTCACAAGCTTGATTTGGCCCACATGGACATAGAGCCTTCCAGATGACTTTTAATTCAAGGTCCAGCATCAATGAACTGTGTTTTACCAGAAAATCCAGGGATGTTTTGAGTACAACTCTTCCTTGAAGCCATTTGGAGAGTGTTTGTACTCAGCAGTACCAAGGCCTGCACAAAGGCAGGGTCTCGATGGGGAGAGAAGGGTGTCTGCAGATAGTCACTGCACTCTAGGCCCCCATTTCAGTCTAAGAAATGGGAAGGAATCTCCATCCAGAGTCCTTTGCTAAACAAGGGAACCAATGCATCTAGGGAAGTCCAGCCTTTGTTCTCCAGTGGCTCTTCCCTGTGTGACCACACCCTCTAGCTGTTAGAAGGGGAAACTGCAGGTGTGGCCTGTTGCCTGTGGCAGGCTTCCACCCTGTTTTCTATAGCAGTGACTGGGAGGTTCTGCCTGAAGATCGGGAGGAGAGGAAGGATCACACCTCTCCTCAGAGAAGTAGGCTCTCTCATGGCCACATCAGCCCCACCAGCCAGCGTGGCGGGGACAGGTTTGGGGCTCTGAAACAGGTAGAGGCCATTGTGCTGGAAGGCTGATGGTAGAAGAGATGTTTCCCTTGGGATTTGCATTCCTCCTGGCTTCCCCTAATCCCTGGTTCCCCTGGAGGAGTCCAGGAGCTGGCAGAGACCATCATGCATTGGTAACCAGGGCAGAACAAGGTCAGAGATCCTGCTCTCCAGCATTTGTCCCATGCTCAGCACCACAAGGGCTCAGTAAATACTGTAAGAGCAGTGGCTGAAAGGGTGGTCACCTTGGGTCACCAGTTCTCTGAAAGAACTCTGGCTCTTTGGTTCTTTTCAAGCAGGAGAGAGTTGACAAAGGCATCGAGACAGATGGCTCCAACCTGAGTGGTGTCAGTGCCAAGTGTGCCTGGGATGACCTGAGCCGGCCCCCCGAGGATGACGAGGACAGCCGGAGCATCTGCATCGGCACACAGCCCCGGCGACTCTCTGGCAAAGGTGGGAGCCATCACTCAGCATTCCACCAGCCTTCCTCCTTCCTTTTCCCCAGGGCCTGGTTTCCAGTCTCTCTAGGATGGGTCTCTAACAAAAACAACCCATTCAATAGTTTATTTCCTGGCATGATTTAAACAGCAAGTGAAGTCTTCCAGCAGGGCGGAATTAAGGGAGCTTTATTGGCCCATTCCTAGTTGTGTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCAATCTGTACTCACTCAGCGCTTACATCTGGATGCGTAGAGTGGGCTCAGGACTGGCCAG
ATGTAGCCAGCAGCCCCTGAGTTCTTCACTGTAGACTTGTGAGTTCTTGGGCATAAATCCTCTTCATTCACAGATGATGCTCCTCTGTTTTCCTAGTGCCTTTAACACTGAACATTTCAAACTGCTGCCAGGATCCTCTGTTCTCTCTGCTTTAAACTTGGTTTCCTTGTATCTTCTGCATATGCAAGAACCAGGAACCAGGAAGGCTATCTTTCCCTAAGCCCTTGTTCTGTAGCCACACTGGGATCCAGCATGGGGCACTGTGGGCCGTTGTTTGGCCCCTGTCATAAGTGCCAAGTACTAAGAAAGAACCTGGTCCTTTGCACTAGTAGGGTAAACAGCTGTCCTTCCATGCCAAGGGCTGTTCTTCCTAGTCTGCAGGATCCCCTGAGAGCAGCCCACAGGACCCGGAGCACCTAGTGGTCTTTGAAAGCAAGCCAGGGTCCCACAGGAACAAAGGACAGCTTTCTTTCCTGGTGGCTCTGTGCACCAAGTGTGAACTCCTCTGTATTCACTGTGCCTTTCTGGGGCCTGCTTGCTATCAGTCTCTTTAGAGCTGGCATATATTCCTGTGATTCAAGCTCTACACTAACCAGCTGTGTGCCCAAATAAGTCCCTCGCCTTCTGGGTCTTAACTTTTTCTTTTTACTTATAAAGTAAATAGCCCAGACAAGTTGAGCCAAGAATTGTCTGTCTGCAACTCTTTACCTAAGTGAGGGACCCCAGGGCAGCCAGTGCAGAGGAAAAAGCTCAGACTATCCCCTGAGCACACCAGGGTATACATGCTCCCTGCCCAGAGTACACAGAGCGCTTCCCTGCTTAGCCTCTTCCTGCTCGGAACCCACAGCTTTGCCCAGGCCAGCATTAGCACTTGAAAGGAGGAGATGACTGATGGGAAGGAGGCGTCTGGGGCAGAGCCACTTGCTGACTGGTCCCAGGAAATAAGGACAGTACCTGTACTTCTCCCACATGGGGCTTCTGGGCTGATCAGCAGGCCAGTGTGGTACCTGTGGAGCCGGGAAGCACAGATTATTGTTGAGATGCTCAGTCACAAGCTTGATTTGGCCCACATGGACATAGAGCCTTCCAGATGACTTTTAATTCAAGGTCCAGCATCAATGAACTGTGTTTTACCAGAAAATCCAGGGATGTTTTGAGTACAACTCTTCCTTGAAGCCATTTGGAGAGTGTTTGTACTCAGCAGTACCAAGGCCTGCACAAAGGCAGGGTCTCGATGGGGAGAGAAGGGTGTCTGCAGATAGTCACTGCACTCTAGGCCCCCATTTCAGTCTAAGAAATGGGAAGGAATCTCCATCCAGAGTCCTTTGCTAAACAAGGGAACCAATGCATCTAGGGAAGTCCAGCCTTTGTTCTCCAGTGGCTCTTCCCTGTGTGACCACACCCTCTAGCTGTTAGAAGGGGAAACTGCAGGTGTGGCCTGTTGCCTGTGGCAGGCTTCCACCCTGTTTTCTATAGCAGTGACTGGGAGGTTCTGCCTGAAGATCGGGAGGAGAGGAAGGATCACACCTCTCCTCAGAGAAGTAGGCTCTCTCATGGCCACATCAGCCCCACCAGCCAGCGTGGCGGGGACAGGTTTGGGGCTCTGAAACAGGTAGAGGCCATTGTGCTGGAAGGCTGATGGTAGAAGAGATGTTTCCCTTGGGATTTGCATTCCTCCTGGCTTCCCCTAATCCCTGGTTCCCCTGGAGGAGTCCAGGAGCTGGCAGAGACCATCATGCATTGGTAACCAGGGCAGAACAAGGTCAGAGATCCTGCTCTCCAGCATTTGTCCCATGCTCAGCACCACAAGGGCTCAGTAAATACTGTAAGAGCAGTGGCTGAAAGGGTGGTCACCTTGGGTCACCAGTTCTCTGAAAGAACTCTGGCTCTTTGGTTCTTTTCAAGCAGGAGAGAGTTGACAAAGGCATCGAGACAGATGGCTCCAACCTGAGTGGTGTCAGTGCCAAGTGTGCCTGGGATGACCTGAGCCGGCCCCCCGAGGATGACGAGGACAGCCGGAGCATCTGCATCGGCACACAGCCCCGGCGACTCTGGCAAAGGTGGGAGCCATCACTCAGCATTCCACCAGCCTTCCTCCTTCCTTTTCCCCAGGGCCTGGTTTCCAGTCTCTCTAGGATGGGTCTCTAACAAAAACAACCCATTCAATAGTTTATTTCCTGGCATGATTTAAACAGCAAGTGAAGTCTTCCAGCAGGGCGGAATTAAGGGAGCTTTATTGGCCCATTCCTAGTTGTGTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCAATCTGTACTCACTCAGCGCTTACATCTGGATGCGTAGAGTGGGCTCAGGACTGGCCAGNN
pathogenic
167,420
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 10, position 102599537, gene SUFU (SUFU negative regulator of hedgehog signaling). What disease(s) is it linked to if pathogenic?
pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma']
GTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCAATCTGTACTCACTCAGCGCTTACATCTGGATGCGTAGAGTGGGCTCAGGACTGGCCAGCGTGGTAGTTTTTCTTAGCACCTCTGCTGAGCCAGGTTTCAAGAGCGGGGTGAGAATTGCTGGGAGCCCACTGGGCCACTGGGCAACTTAGTGGTGTCGTTGCAGACACAGAGCAGATCCGGGAGACCCTGAGGAGAGGACTCGAGATCAACAGCAAACCTGTCCTTCCACCAATCAACCCTCAGCGGCAGAATGGCCTCGCCCACGACCGGGCCCCGTAAGTTCCCCAGTGTCCCTGGGCTGGAACAAGAGGACGACTTTTTTCTGAAGGGCCTGTCCCTGTGGATTGCATGAGAGAGAACAATGCACATAGCCCTTGCTGGATGGGCCCAGGATCTCTAGGCTTAAGGGCAGGCATGGTCTGGGGCACACAGATCTATCTGTGGGTCATAGGAGAGGGCCTCAGAGGGGACCCAGCAGACCGTGAATATTAACATCAGTAAATATTTACATGAGCCGTGTGAACAGACAGGAGGCCAGGTTGGGGAGAAATCTGACTTGGGGCCTCCCAGCCTTGTGGGAGCCCATTGTGCTGAGCACGGTTCCCTCCTTATCTCAGTCTTGGCCAGAGTTGCCCTTCCTTCCTTCCTGGAGCCTGGTCTCCGGCTGATAGCTGCAACCCTGGGGGCCTCCCTCTCTGGCCAGCCCCATACTGGATGCCTGTGGCTGAGGCCCTTCTTCCTGCCTCTCTTCCCTGGGGCCCAGGGAAGGGAAAGGAAGTCTTTTGCAGGCCTCTGCTGCCTGTCCAGGGGCCCCTGTAGCCCTCCGGAGAGACTGTGGCCACCCTAGAGGTCAGATCCGCTTCCTGCCAACCTCTCTTCCTCTGATAGAGGGGATGAGTGATAGGCAGGGCTGAAGCTGGGCACCCCCCTCTGCCCTTAGTCCCAGGGCAGCTCTAGGGAATAGCTGCTGGCAGGAGATACCTGGGGGCTGGCAGCCCAAAGCAGGAACCTTGCCTGCCAGGGAGGAAATTGCTGTGCCTTGGGCTGAAAGGGAGGTTGATCATCCTGCAAGACCAGGGTGATCTAGCCTTCTTCTATGAAGTCTTTATTACACATTTGCTGTCTGACAAGCTCGGACCTAGGGGGCCATCTGGGGTGCACAGGCTCTTCCTTTGGGAGAACATGAGTGAAACAGTTACCTTTTAATGGTGTGCATCTGGCTGTCGATGTGATTTGTTGGAAATGGCTGCTTCTCTGGATTCTAGCTCTAGTTGCTGATCGTGTTTCCCAGAAGTAGTAATGCTTCAGTGCACTACAGAAAAGACAGGTCCACAGGATCTGGGGTAGTTAGGGAGGGCATCTTGGAGGAGGAAGAACATAGCATCGACCTTGAGGGCACCTTAGAATTTTAATAAGCAGGGGAAGGAACTCAAGAGGATAGCACAGGGGAGGCCTGGCTGGTTAAAGTTGAGGCTGCCTGCTGGGACCTGACTGGAACTAGAGTTACTCTGGGAACAGGGCTGTACTGAGAGTTGAGCTCTTTGGCAAAAGCCTGGAGAAGCCTCCACCGCCACCTCAGAGCAGCTTTTAACTCCGGCCTGTAGGTTTCTCCAGCCAGCTGCCCTGAAGTAGCTGGCTGGAGGCATCCTGATCATCCCCTGGCAGCAGCAGATGGCCACACCAGGTCATACGACATATGGAAGCTCTCTACCTGTGAGTCTGGACCCTGTCCCGGGTCTACACTCCTTCCCATTCCCTGAGCTTGGCTTCTCGCTTTGGGCCTCCTTGGCACTGTTGGCAGGCCAGAGGTACTGGAAGGCCTATAACATGGACACAGTCTCAGTCCAGATGGCTCTCTGCCTCTGGAAGCCTGGGGTTTCTAGGCAGAAGGGCACAAGCTCCTGCAGAGATACAACCTTCTTGCCCCGCTTGTGTATCTGGAACAGGCCTGAGATCTCACTCCCTGGCTTGGGGGCACTTCCAGCTACTGCACCCCTGGACATTGCAATGGGGCACAAGGCTCTGTGCTCCTAGATATACACATAAGCCGAGACTCTCAGCCTACACCCTAACTGGGCAGTCGGGTATTGGTTCTGGCCCAAGGGTTCTCTGTAAACATAAGGCAGAGAGGCTGCAGCTTCTACCCTTTGGCTTGAGTTGGCTGAGATACAGAGAGATGGGTGAGAATAGATTCGAGGTGCCGGGGTTGTCTCCCCTTCCTGAAGGTTTAGTGCCCAGTAAGGTCTCTAAAGCACCAGGACCTGTAGTCTGAGGGGAATAGAATGTTTCCTCTGAGGCTGTCAGTATTGGTTACC
GTTTCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCAATCTGTACTCACTCAGCGCTTACATCTGGATGCGTAGAGTGGGCTCAGGACTGGCCAGCGTGGTAGTTTTTCTTAGCACCTCTGCTGAGCCAGGTTTCAAGAGCGGGGTGAGAATTGCTGGGAGCCCACTGGGCCACTGGGCAACTTAGTGGTGTCGTTGCAGACACAGAGCAGATCCGGGAGACCCTGAGGAGAGGACTCGAGATCAACAGCAAACCTGTCCTTCCACCAATCAACCCTCAGCGGCAGAATGGCCTCGCCCACGACCGGCCCCGTAAGTTCCCCAGTGTCCCTGGGCTGGAACAAGAGGACGACTTTTTTCTGAAGGGCCTGTCCCTGTGGATTGCATGAGAGAGAACAATGCACATAGCCCTTGCTGGATGGGCCCAGGATCTCTAGGCTTAAGGGCAGGCATGGTCTGGGGCACACAGATCTATCTGTGGGTCATAGGAGAGGGCCTCAGAGGGGACCCAGCAGACCGTGAATATTAACATCAGTAAATATTTACATGAGCCGTGTGAACAGACAGGAGGCCAGGTTGGGGAGAAATCTGACTTGGGGCCTCCCAGCCTTGTGGGAGCCCATTGTGCTGAGCACGGTTCCCTCCTTATCTCAGTCTTGGCCAGAGTTGCCCTTCCTTCCTTCCTGGAGCCTGGTCTCCGGCTGATAGCTGCAACCCTGGGGGCCTCCCTCTCTGGCCAGCCCCATACTGGATGCCTGTGGCTGAGGCCCTTCTTCCTGCCTCTCTTCCCTGGGGCCCAGGGAAGGGAAAGGAAGTCTTTTGCAGGCCTCTGCTGCCTGTCCAGGGGCCCCTGTAGCCCTCCGGAGAGACTGTGGCCACCCTAGAGGTCAGATCCGCTTCCTGCCAACCTCTCTTCCTCTGATAGAGGGGATGAGTGATAGGCAGGGCTGAAGCTGGGCACCCCCCTCTGCCCTTAGTCCCAGGGCAGCTCTAGGGAATAGCTGCTGGCAGGAGATACCTGGGGGCTGGCAGCCCAAAGCAGGAACCTTGCCTGCCAGGGAGGAAATTGCTGTGCCTTGGGCTGAAAGGGAGGTTGATCATCCTGCAAGACCAGGGTGATCTAGCCTTCTTCTATGAAGTCTTTATTACACATTTGCTGTCTGACAAGCTCGGACCTAGGGGGCCATCTGGGGTGCACAGGCTCTTCCTTTGGGAGAACATGAGTGAAACAGTTACCTTTTAATGGTGTGCATCTGGCTGTCGATGTGATTTGTTGGAAATGGCTGCTTCTCTGGATTCTAGCTCTAGTTGCTGATCGTGTTTCCCAGAAGTAGTAATGCTTCAGTGCACTACAGAAAAGACAGGTCCACAGGATCTGGGGTAGTTAGGGAGGGCATCTTGGAGGAGGAAGAACATAGCATCGACCTTGAGGGCACCTTAGAATTTTAATAAGCAGGGGAAGGAACTCAAGAGGATAGCACAGGGGAGGCCTGGCTGGTTAAAGTTGAGGCTGCCTGCTGGGACCTGACTGGAACTAGAGTTACTCTGGGAACAGGGCTGTACTGAGAGTTGAGCTCTTTGGCAAAAGCCTGGAGAAGCCTCCACCGCCACCTCAGAGCAGCTTTTAACTCCGGCCTGTAGGTTTCTCCAGCCAGCTGCCCTGAAGTAGCTGGCTGGAGGCATCCTGATCATCCCCTGGCAGCAGCAGATGGCCACACCAGGTCATACGACATATGGAAGCTCTCTACCTGTGAGTCTGGACCCTGTCCCGGGTCTACACTCCTTCCCATTCCCTGAGCTTGGCTTCTCGCTTTGGGCCTCCTTGGCACTGTTGGCAGGCCAGAGGTACTGGAAGGCCTATAACATGGACACAGTCTCAGTCCAGATGGCTCTCTGCCTCTGGAAGCCTGGGGTTTCTAGGCAGAAGGGCACAAGCTCCTGCAGAGATACAACCTTCTTGCCCCGCTTGTGTATCTGGAACAGGCCTGAGATCTCACTCCCTGGCTTGGGGGCACTTCCAGCTACTGCACCCCTGGACATTGCAATGGGGCACAAGGCTCTGTGCTCCTAGATATACACATAAGCCGAGACTCTCAGCCTACACCCTAACTGGGCAGTCGGGTATTGGTTCTGGCCCAAGGGTTCTCTGTAAACATAAGGCAGAGAGGCTGCAGCTTCTACCCTTTGGCTTGAGTTGGCTGAGATACAGAGAGATGGGTGAGAATAGATTCGAGGTGCCGGGGTTGTCTCCCCTTCCTGAAGGTTTAGTGCCCAGTAAGGTCTCTAAAGCACCAGGACCTGTAGTCTGAGGGGAATAGAATGTTTCCTCTGAGGCTGTCAGTATTGGTTACCN
pathogenic
167,440
Determine if the mutation at chromosome 10, position 102599540 in gene SUFU (SUFU negative regulator of hedgehog signaling) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma']
TCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCAATCTGTACTCACTCAGCGCTTACATCTGGATGCGTAGAGTGGGCTCAGGACTGGCCAGCGTGGTAGTTTTTCTTAGCACCTCTGCTGAGCCAGGTTTCAAGAGCGGGGTGAGAATTGCTGGGAGCCCACTGGGCCACTGGGCAACTTAGTGGTGTCGTTGCAGACACAGAGCAGATCCGGGAGACCCTGAGGAGAGGACTCGAGATCAACAGCAAACCTGTCCTTCCACCAATCAACCCTCAGCGGCAGAATGGCCTCGCCCACGACCGGGCCCCGTAAGTTCCCCAGTGTCCCTGGGCTGGAACAAGAGGACGACTTTTTTCTGAAGGGCCTGTCCCTGTGGATTGCATGAGAGAGAACAATGCACATAGCCCTTGCTGGATGGGCCCAGGATCTCTAGGCTTAAGGGCAGGCATGGTCTGGGGCACACAGATCTATCTGTGGGTCATAGGAGAGGGCCTCAGAGGGGACCCAGCAGACCGTGAATATTAACATCAGTAAATATTTACATGAGCCGTGTGAACAGACAGGAGGCCAGGTTGGGGAGAAATCTGACTTGGGGCCTCCCAGCCTTGTGGGAGCCCATTGTGCTGAGCACGGTTCCCTCCTTATCTCAGTCTTGGCCAGAGTTGCCCTTCCTTCCTTCCTGGAGCCTGGTCTCCGGCTGATAGCTGCAACCCTGGGGGCCTCCCTCTCTGGCCAGCCCCATACTGGATGCCTGTGGCTGAGGCCCTTCTTCCTGCCTCTCTTCCCTGGGGCCCAGGGAAGGGAAAGGAAGTCTTTTGCAGGCCTCTGCTGCCTGTCCAGGGGCCCCTGTAGCCCTCCGGAGAGACTGTGGCCACCCTAGAGGTCAGATCCGCTTCCTGCCAACCTCTCTTCCTCTGATAGAGGGGATGAGTGATAGGCAGGGCTGAAGCTGGGCACCCCCCTCTGCCCTTAGTCCCAGGGCAGCTCTAGGGAATAGCTGCTGGCAGGAGATACCTGGGGGCTGGCAGCCCAAAGCAGGAACCTTGCCTGCCAGGGAGGAAATTGCTGTGCCTTGGGCTGAAAGGGAGGTTGATCATCCTGCAAGACCAGGGTGATCTAGCCTTCTTCTATGAAGTCTTTATTACACATTTGCTGTCTGACAAGCTCGGACCTAGGGGGCCATCTGGGGTGCACAGGCTCTTCCTTTGGGAGAACATGAGTGAAACAGTTACCTTTTAATGGTGTGCATCTGGCTGTCGATGTGATTTGTTGGAAATGGCTGCTTCTCTGGATTCTAGCTCTAGTTGCTGATCGTGTTTCCCAGAAGTAGTAATGCTTCAGTGCACTACAGAAAAGACAGGTCCACAGGATCTGGGGTAGTTAGGGAGGGCATCTTGGAGGAGGAAGAACATAGCATCGACCTTGAGGGCACCTTAGAATTTTAATAAGCAGGGGAAGGAACTCAAGAGGATAGCACAGGGGAGGCCTGGCTGGTTAAAGTTGAGGCTGCCTGCTGGGACCTGACTGGAACTAGAGTTACTCTGGGAACAGGGCTGTACTGAGAGTTGAGCTCTTTGGCAAAAGCCTGGAGAAGCCTCCACCGCCACCTCAGAGCAGCTTTTAACTCCGGCCTGTAGGTTTCTCCAGCCAGCTGCCCTGAAGTAGCTGGCTGGAGGCATCCTGATCATCCCCTGGCAGCAGCAGATGGCCACACCAGGTCATACGACATATGGAAGCTCTCTACCTGTGAGTCTGGACCCTGTCCCGGGTCTACACTCCTTCCCATTCCCTGAGCTTGGCTTCTCGCTTTGGGCCTCCTTGGCACTGTTGGCAGGCCAGAGGTACTGGAAGGCCTATAACATGGACACAGTCTCAGTCCAGATGGCTCTCTGCCTCTGGAAGCCTGGGGTTTCTAGGCAGAAGGGCACAAGCTCCTGCAGAGATACAACCTTCTTGCCCCGCTTGTGTATCTGGAACAGGCCTGAGATCTCACTCCCTGGCTTGGGGGCACTTCCAGCTACTGCACCCCTGGACATTGCAATGGGGCACAAGGCTCTGTGCTCCTAGATATACACATAAGCCGAGACTCTCAGCCTACACCCTAACTGGGCAGTCGGGTATTGGTTCTGGCCCAAGGGTTCTCTGTAAACATAAGGCAGAGAGGCTGCAGCTTCTACCCTTTGGCTTGAGTTGGCTGAGATACAGAGAGATGGGTGAGAATAGATTCGAGGTGCCGGGGTTGTCTCCCCTTCCTGAAGGTTTAGTGCCCAGTAAGGTCTCTAAAGCACCAGGACCTGTAGTCTGAGGGGAATAGAATGTTTCCTCTGAGGCTGTCAGTATTGGTTACCAAT
TCCTGTGTGTATTTCAAATGCATCACCAGCAGGCACCGTTGTGTTTTAGATATGCCCTTTGCAATCTGAGGTCATGGAGGTGAGTGGAAGCCTCAGAACAGTTACAGGAAAAGTCCATAGTCCACCCAAGTGCAAGAGAAAAGTGTCGGCCACCCACGGAATTGACACAGGGCCCAGCTCTGGCCTGAAGGCCATGCCAGATCCAAGGATCACTCTGGCCTCGGGCCCTCCCAGGCCTTCAACAAATGAGGCCTGAGTGTGAGGCTGGCTTGCAAATTGCCCACCTCCTGTCATATAGATACAGGGTTAGGGGCTGTGGGCAGGGCCTCTGGACCCACCGTGTTCCGGATGGGGTCTTTGGGAAGGAGGATGTGGCTGTCCTGTTGGAATCTCCCTGTGCTGATCTTGGCTACAGAAACAGTTGTGGTTTTTAGTAGAGGGCGTCCCCAGCTAACTGCAAAGGAGAAGCAGCCACTTACATATACATGTGTTGACAGCTTCTTTGTCTACTTCCTTTCTTCATTCTTCCATCTTTTCTTTTTTTGAAGAATAAGATGTCTACAGCCCTGAATAAAATCCTTACATATATGATAACACTTATAAAAGGTTTTTGTTCGTTCTGTAAAGGACAAACTTAAACTCCTAGTGCAAATATTTGAGCCCTTTCTTTTTTTTTTTCTTTGAAACAGGGGTCTCTGTTGCCCAGGCTGGAGTACAGTGGGTTGATCTTGGCTCACTGCAACCTCTGCTTCCCAGGCTGAAGTGATTCTCCAGCCTCAGCATCCCAAGTAGCTGGGACTACAGGCGTGAGCCACCAACGCCCAGCTAATTTTTGTATTTTTTTGTAGAGTCAGGGCTTCGCTGTGTTGCCCACGCTGGTCTTAAACTCCTGAGCTCAAAACAATCCACCCGCCTCAGCCTCCCGAAGTGCTGGGATTACAGATGTGAGCCACCGCACCCGGCCAAGCCCTTTCTTTCCTTCCTGTTTGTTCTAATGGCATGCCAAGCCTATTGGAGGCTCAAAGAGAGGGTATACAGTTATTGGAATCATTTGGTTGCTTTTGACAAAAGAGGTGATTTAAAGAGGGAGTCATAGTCTTGTCTAAAATTTCAGTCATTACTGGCTATTTTTAAAAATTGTAAAAGTAATCCATTCCACTGTAACAAGTCAAATAGTTAGAAAAGTTAGTAATCATCTCCTTCCCACTCTAAGGCCACTCTTTGAGCAACTAATTTTAATTTGCTTTTTTGTATCTGTTTACAGTTTGCAGAGGTAAATTTAGATCCAAATCTCAATACAGGGGACCAGACTAGTAAGCTTCATCCCAAAGACCAGCAAAGCACCTTACAAAGAAATAATCCCACCAAGGGAACTCTTTCACTTCCTGGCCCTTGCCTCTCCATGGAGAGGCAGAGTTTCCTGGGATAGACCAAGGTGGAGAGATGATCTTAGCATCTCACTGACTTGAATGCAAGGGGAAGGAGTGGCGGGACCAGATGCTAGTTGACTACCCAGAACCCAGAAAGGTGTGTTAGAGGCACCTGCCCATTCATGGCAGGGTGCTTGCAGCCTTAACTCACATCCATTTCAGTGGGCAGAATCCCCAGTAGTCAGTCACTGTGTGGAGCCATGTTAAGGGTAAACCTCGGGCCTGTGACACAGGAAAGAAAAGGATGGTGGAGAGCGCTCTTCTGAACTCTAGAGGCTGCCCCTGGCTTCTACAAGAATGGTACTCTTCCAACCCAGAGCTTCTTAAGAGCGCGGTTGTCCCCTCGCAATCTGTACTCACTCAGCGCTTACATCTGGATGCGTAGAGTGGGCTCAGGACTGGCCAGCGTGGTAGTTTTTCTTAGCACCTCTGCTGAGCCAGGTTTCAAGAGCGGGGTGAGAATTGCTGGGAGCCCACTGGGCCACTGGGCAACTTAGTGGTGTCGTTGCAGACACAGAGCAGATCCGGGAGACCCTGAGGAGAGGACTCGAGATCAACAGCAAACCTGTCCTTCCACCAATCAACCCTCAGCGGCAGAATGGCCTCGCCCACGACCGGGCCCGTAAGTTCCCCAGTGTCCCTGGGCTGGAACAAGAGGACGACTTTTTTCTGAAGGGCCTGTCCCTGTGGATTGCATGAGAGAGAACAATGCACATAGCCCTTGCTGGATGGGCCCAGGATCTCTAGGCTTAAGGGCAGGCATGGTCTGGGGCACACAGATCTATCTGTGGGTCATAGGAGAGGGCCTCAGAGGGGACCCAGCAGACCGTGAATATTAACATCAGTAAATATTTACATGAGCCGTGTGAACAGACAGGAGGCCAGGTTGGGGAGAAATCTGACTTGGGGCCTCCCAGCCTTGTGGGAGCCCATTGTGCTGAGCACGGTTCCCTCCTTATCTCAGTCTTGGCCAGAGTTGCCCTTCCTTCCTTCCTGGAGCCTGGTCTCCGGCTGATAGCTGCAACCCTGGGGGCCTCCCTCTCTGGCCAGCCCCATACTGGATGCCTGTGGCTGAGGCCCTTCTTCCTGCCTCTCTTCCCTGGGGCCCAGGGAAGGGAAAGGAAGTCTTTTGCAGGCCTCTGCTGCCTGTCCAGGGGCCCCTGTAGCCCTCCGGAGAGACTGTGGCCACCCTAGAGGTCAGATCCGCTTCCTGCCAACCTCTCTTCCTCTGATAGAGGGGATGAGTGATAGGCAGGGCTGAAGCTGGGCACCCCCCTCTGCCCTTAGTCCCAGGGCAGCTCTAGGGAATAGCTGCTGGCAGGAGATACCTGGGGGCTGGCAGCCCAAAGCAGGAACCTTGCCTGCCAGGGAGGAAATTGCTGTGCCTTGGGCTGAAAGGGAGGTTGATCATCCTGCAAGACCAGGGTGATCTAGCCTTCTTCTATGAAGTCTTTATTACACATTTGCTGTCTGACAAGCTCGGACCTAGGGGGCCATCTGGGGTGCACAGGCTCTTCCTTTGGGAGAACATGAGTGAAACAGTTACCTTTTAATGGTGTGCATCTGGCTGTCGATGTGATTTGTTGGAAATGGCTGCTTCTCTGGATTCTAGCTCTAGTTGCTGATCGTGTTTCCCAGAAGTAGTAATGCTTCAGTGCACTACAGAAAAGACAGGTCCACAGGATCTGGGGTAGTTAGGGAGGGCATCTTGGAGGAGGAAGAACATAGCATCGACCTTGAGGGCACCTTAGAATTTTAATAAGCAGGGGAAGGAACTCAAGAGGATAGCACAGGGGAGGCCTGGCTGGTTAAAGTTGAGGCTGCCTGCTGGGACCTGACTGGAACTAGAGTTACTCTGGGAACAGGGCTGTACTGAGAGTTGAGCTCTTTGGCAAAAGCCTGGAGAAGCCTCCACCGCCACCTCAGAGCAGCTTTTAACTCCGGCCTGTAGGTTTCTCCAGCCAGCTGCCCTGAAGTAGCTGGCTGGAGGCATCCTGATCATCCCCTGGCAGCAGCAGATGGCCACACCAGGTCATACGACATATGGAAGCTCTCTACCTGTGAGTCTGGACCCTGTCCCGGGTCTACACTCCTTCCCATTCCCTGAGCTTGGCTTCTCGCTTTGGGCCTCCTTGGCACTGTTGGCAGGCCAGAGGTACTGGAAGGCCTATAACATGGACACAGTCTCAGTCCAGATGGCTCTCTGCCTCTGGAAGCCTGGGGTTTCTAGGCAGAAGGGCACAAGCTCCTGCAGAGATACAACCTTCTTGCCCCGCTTGTGTATCTGGAACAGGCCTGAGATCTCACTCCCTGGCTTGGGGGCACTTCCAGCTACTGCACCCCTGGACATTGCAATGGGGCACAAGGCTCTGTGCTCCTAGATATACACATAAGCCGAGACTCTCAGCCTACACCCTAACTGGGCAGTCGGGTATTGGTTCTGGCCCAAGGGTTCTCTGTAAACATAAGGCAGAGAGGCTGCAGCTTCTACCCTTTGGCTTGAGTTGGCTGAGATACAGAGAGATGGGTGAGAATAGATTCGAGGTGCCGGGGTTGTCTCCCCTTCCTGAAGGTTTAGTGCCCAGTAAGGTCTCTAAAGCACCAGGACCTGTAGTCTGAGGGGAATAGAATGTTTCCTCTGAGGCTGTCAGTATTGGTTACCAATN
pathogenic
167,443
Variant in gene SUFU (SUFU negative regulator of hedgehog signaling), located at chromosome 10 position 102615366: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Gorlin_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Medulloblastoma']
GAGGAAGGGACCGCTTTGTGAAGGAACAGTCAGATCCAGGAGTGAGTCCTCACAAGGAGAAGGCCAGCAGGCAGGCACGGCCCATGACCTCAGGGGCACGTCTAACCCACTGCCGCCACAGGGCCATCCTCTGTCTTTGGCCTGCGGACCCTACACCTTCCCCTGGGGAGGTGCCCTGCCTGTTGGGGTGCCACCCTGGCTGCAGGCCCCAGCACCTAGCCCCGCAACGTGTGAGGAGGTTGGGCCTGCCCCTCAGTGGCTGTCTGGCTGTCATCCTGGGTGGCTCCTGCCTGCCACTTGAATGATAAATAACTAGAGCTTCTCACCCAGTTTTTGATGGACACTTGGGGAATTGTTCTGAGATTCACAGCCCAAACCAGGATCCGGCCTTTTGAATGGGATCAGTGGGTAACTCTTATTTCTGGCTGAGGCAGATTTGAGAGGTTGTCAGTGGGGGCAGCTGAATTTGAAAGAGCAAATCTTAGAATGCAAAGGGACCCTGTGTCCCAGCCGTGGGCCGCACTTTTGGTGGGGAGCAGGCAGGAGGGAGTGTGGGGCAGCAGTGACAGCTCACCGTGCCAAGGCCACAGTCAGGAGGAATCTGGTACAGGCTCCTGGGGCCTTAAAGCCCAGCAGGGCGGGGGCCCGGTTCTGCTTTCCAGCCAAGCCCACTGGTCTGACTCGTAAGAGCCCAGCTTGTACTCAGCAGTACAGATTGTATCATCATCTGGTTAGATGAAGGGTGTGAATGTCCCTGCAGCTCCTGGCTGTTGGCGGAATGTGCATCCTCAGAGCCTTCAGGGTCAGCTGGACAGAAACTCTTGGAGCCGCATCTCATGGTGCTCAGAGCTAGGGCTCAGAGGCTCCAGGGCAGGAGAGGAAGGGCTCCCAGAAGCTCCTGCTGATCACAGGGAAAGACAAGCCACTGTGCCATAAACTTTAATATAGAATGTTGGGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTTGAAACCAGCCTTGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGACATGATGGCAGGTCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGTGACACGGCGAGATGCTATCTCAAAAAAAAAAAACGAAACAAAAAAACAAAAACCAAAGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAGGACGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAGACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTGATCCCAGCTACTCGGGAGGCTAAGGCGGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAAATCGCACCACTGTGCTCCAGCCTGGGTAATAGAACGAGACACCATCTCAATTAAAAAAAAAAAAAAAATAGAATGTTGGCCAAAGATGCAGGCTTTATAGAATCAGACCTGCCCGAGACTGGATCTCAACTCTGCCCACTCCCTGGCTGTGCAACCTGTGCAAATTACTTAGCCTCCCTGTCCCCAGTTCCTCCTCTGTAAAAAGAGACAATGGTGGCAGCCACCTCTTGGGGGCATTGTGAGGAGTAGCCAGTCAGTGAGAAGTGCTTGGTGCAGTGGCTGGCGCTCGCCAGGCATATACAGAATGATGGCTGTCACCATCATTATCATCAGTCACCATTATTGTCTTTATTACTCAGGAGCCCAGCTGGAGACTCCCATCTTGCTCCTCCCTGAGCTTTTCACCTTGTGCCGAACCTTTTCCTGTGCTTGCTTCACAGGAGCCGCAAAGACAGCCTGGAAAGTGACAGCTCCACGGCCATCATTCCCCATGAGCTGATTCGCACGCGGCAGCTTGAGAGCGTACATCTGAAATTCAACCAGGAGTCCGGAGCCCTCATTCCTCTCTGCCTAAGGTGAGCGAGACAGCCCTGCCACACAGTTTACCCCACAGCACCCAGCTCAGCCTCCAGGGGGCACTTCAGAGCCTCCCCAGCCCCCTCCCCCAGCAGGCGTCCTCCAGGGCCTCCAAGGAGCCACCAGGCCCGTGCTTCCCGTCTCCCTGTCTCCCTGATGAGGGTGAGGTGCCTGTTGGCAGCCTACACACCTAAGCAGGCTGGGTCTCAGGGAGGGAGGAGAGCTACTCCACATGGGGCCTGTTTAGGAGCCTGGGGACTGTGAACCAGCCAGTCGCCCCCATGTCACTGGGCCATGCGGTGTTCTCCTTGCCCAACCCTCTGGCTGGCCTAGGTGGTGAGAAGTCTGCCATGCTTCCTAGAGCGGGGCTCTCTTATCTGCATCTCCTGTCTAGCCCAGAGCAGCAACAGTCCCCAATGCGCCCAGCACTGTGACCAGAGAGCCCCACTGGTCTCCTATTGCTTGTTTGACAGACCTTCCTCGTTCGCAAGTTCTGGAGTCAGAATCCACAGGGAGAAGTATTCCTCAGCCCTGCTCCCCTTAGGAAGGCTCTGTGACCCAGGGAGTCTCAGGTGCCCCCAGCCACCGACAAGCCCAGGGCAGGGATGGCAGGGTCCCCAGTAGCACTGGTTTGTCAGGGTGGGGTTGGGTGGGTTGGGCTCTATTTTCTCCTGCTTGCTGCTTTTCCCATGCAAAACACTCAGTTCTAAAACCTAGTGGCCAGCCCAGCAAACTCCTTGAGGGACCAGGAAGCCCAGCTGTGTCCCTTCTGCTTCTGTCCACAGTGCCAAAAGCCCAGCCCTATGGCCAGAACTCAGCTCTGTGCTCAGGGCTGCTGCACGGCTGCATCTGCTACAGCTGGCTACCCCACAGCCCAGGGGCTCCACCCACACTTTGAGCAGCAGAGTCACCAAGAGTAATTCTAAACTCACAGAACAGTGACAGGGAAGAAGAACTTGCACACTTGGGGACTCCCCACTGTCCCCAGCACCTGGGAGTGAGTTTGAAGGGTAACTAGCCTTGGCCAGCCACCCTGGGCAGCAGACAGAGAGCAAATGGCCAGAATGAACAGGACCTGGAGGGGCCCACTGCCATCCCACAGCCACATCCTCCCCAGCCACTTCTCTGGCCCAGGCCCAGGGCCTTTCAACTGGTGAAGGGTTAATTGGAGGCAGCCTGAGAAGGCAGAGGGCAGGTTCCACTTCCTTTGCTGATGAGTGGCTCTGCCCATTAGCTGCCCCTGCCTGCCCCTCCCCCAGGTGTATTTCCAGACTAGGGATTAACAGTAACTTCTGTGGCTCCCTGAGTGACCCCACTTGGCTTCAGCTTGCTTGCTTGCTTTTTTTTTAAAGATGTGCTGTGGCCTTTGGGCCAGCCACTTGAATGTTATGGGAAAGCCCAGGAGCAGGTGGAAGATTCTGCCCTGGACACTGAAGGGTCCCACTGCGGAGGCACTATCCCATCGTCCCAGGGAAACTTGTCTAGACGCTACTTCACCTCCGTCCCCTAAGGGGGGATGTGACCCCCCTCTTACCTCTGGGCATGACCTTCAGCACATTGCTACCTTCCCTCTCTGCCCTCAATTTTCCTAAGGGAGGTGAGCTCCAGGATCTCTGCAGGGCTTTTGAACTCAGTGTTTTCTGCTAGCTTTGAGCACTTTGGAAGGATGATGTTAGAGAACTTGTGAGAGGAGCTTCTCTTTGAAGGTGTTGAAATGAGCGTGTTTGGATACAGTCCCCTGTTGATGGGCAGGTGGGCAGCCAGGAGGGCATGTTACCTGGCCCGCGGACCATAGTCCCCACTGTCCCAGAGCCTTGGCCAGGCCTGCTGTGCTTGGAACTGTTTCCAAGCCCAGCTCCTCACTGTCTCCATGTTCCCATCTCCAGGGGCAGGCTCCTGCATGGACGGCACTTTACATATAAAAGTATCACAGGTGACATGGCCATCACGTTTGTCTCCACGGGAGTGGAAGGCGCCTTTGCCACTGAGGAGCATCCTTACGCGGCTCAT
GAGGAAGGGACCGCTTTGTGAAGGAACAGTCAGATCCAGGAGTGAGTCCTCACAAGGAGAAGGCCAGCAGGCAGGCACGGCCCATGACCTCAGGGGCACGTCTAACCCACTGCCGCCACAGGGCCATCCTCTGTCTTTGGCCTGCGGACCCTACACCTTCCCCTGGGGAGGTGCCCTGCCTGTTGGGGTGCCACCCTGGCTGCAGGCCCCAGCACCTAGCCCCGCAACGTGTGAGGAGGTTGGGCCTGCCCCTCAGTGGCTGTCTGGCTGTCATCCTGGGTGGCTCCTGCCTGCCACTTGAATGATAAATAACTAGAGCTTCTCACCCAGTTTTTGATGGACACTTGGGGAATTGTTCTGAGATTCACAGCCCAAACCAGGATCCGGCCTTTTGAATGGGATCAGTGGGTAACTCTTATTTCTGGCTGAGGCAGATTTGAGAGGTTGTCAGTGGGGGCAGCTGAATTTGAAAGAGCAAATCTTAGAATGCAAAGGGACCCTGTGTCCCAGCCGTGGGCCGCACTTTTGGTGGGGAGCAGGCAGGAGGGAGTGTGGGGCAGCAGTGACAGCTCACCGTGCCAAGGCCACAGTCAGGAGGAATCTGGTACAGGCTCCTGGGGCCTTAAAGCCCAGCAGGGCGGGGGCCCGGTTCTGCTTTCCAGCCAAGCCCACTGGTCTGACTCGTAAGAGCCCAGCTTGTACTCAGCAGTACAGATTGTATCATCATCTGGTTAGATGAAGGGTGTGAATGTCCCTGCAGCTCCTGGCTGTTGGCGGAATGTGCATCCTCAGAGCCTTCAGGGTCAGCTGGACAGAAACTCTTGGAGCCGCATCTCATGGTGCTCAGAGCTAGGGCTCAGAGGCTCCAGGGCAGGAGAGGAAGGGCTCCCAGAAGCTCCTGCTGATCACAGGGAAAGACAAGCCACTGTGCCATAAACTTTAATATAGAATGTTGGGGCCAGGCACGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACCTGAGGTCAGGAGTTTGAAACCAGCCTTGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGACATGATGGCAGGTCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGTGACACGGCGAGATGCTATCTCAAAAAAAAAAAACGAAACAAAAAAACAAAAACCAAAGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAGGACGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAGACAAAAATTAGCTGGGTGTAGTGGTGGATGCCTGTGATCCCAGCTACTCGGGAGGCTAAGGCGGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAAATCGCACCACTGTGCTCCAGCCTGGGTAATAGAACGAGACACCATCTCAATTAAAAAAAAAAAAAAAATAGAATGTTGGCCAAAGATGCAGGCTTTATAGAATCAGACCTGCCCGAGACTGGATCTCAACTCTGCCCACTCCCTGGCTGTGCAACCTGTGCAAATTACTTAGCCTCCCTGTCCCCAGTTCCTCCTCTGTAAAAAGAGACAATGGTGGCAGCCACCTCTTGGGGGCATTGTGAGGAGTAGCCAGTCAGTGAGAAGTGCTTGGTGCAGTGGCTGGCGCTCGCCAGGCATATACAGAATGATGGCTGTCACCATCATTATCATCAGTCACCATTATTGTCTTTATTACTCAGGAGCCCAGCTGGAGACTCCCATCTTGCTCCTCCCTGAGCTTTTCACCTTGTGCCGAACCTTTTCCTGTGCTTGCTTCACAGGAGCCGCAAAGACAGCCTGGAAAGTGACAGCTCCACGGCCATCATTCCCCATGAGCTGATTCGCACGCGGCAGCTTGAGAGCGTACATCTGAAATTCAACAGGAGTCCGGAGCCCTCATTCCTCTCTGCCTAAGGTGAGCGAGACAGCCCTGCCACACAGTTTACCCCACAGCACCCAGCTCAGCCTCCAGGGGGCACTTCAGAGCCTCCCCAGCCCCCTCCCCCAGCAGGCGTCCTCCAGGGCCTCCAAGGAGCCACCAGGCCCGTGCTTCCCGTCTCCCTGTCTCCCTGATGAGGGTGAGGTGCCTGTTGGCAGCCTACACACCTAAGCAGGCTGGGTCTCAGGGAGGGAGGAGAGCTACTCCACATGGGGCCTGTTTAGGAGCCTGGGGACTGTGAACCAGCCAGTCGCCCCCATGTCACTGGGCCATGCGGTGTTCTCCTTGCCCAACCCTCTGGCTGGCCTAGGTGGTGAGAAGTCTGCCATGCTTCCTAGAGCGGGGCTCTCTTATCTGCATCTCCTGTCTAGCCCAGAGCAGCAACAGTCCCCAATGCGCCCAGCACTGTGACCAGAGAGCCCCACTGGTCTCCTATTGCTTGTTTGACAGACCTTCCTCGTTCGCAAGTTCTGGAGTCAGAATCCACAGGGAGAAGTATTCCTCAGCCCTGCTCCCCTTAGGAAGGCTCTGTGACCCAGGGAGTCTCAGGTGCCCCCAGCCACCGACAAGCCCAGGGCAGGGATGGCAGGGTCCCCAGTAGCACTGGTTTGTCAGGGTGGGGTTGGGTGGGTTGGGCTCTATTTTCTCCTGCTTGCTGCTTTTCCCATGCAAAACACTCAGTTCTAAAACCTAGTGGCCAGCCCAGCAAACTCCTTGAGGGACCAGGAAGCCCAGCTGTGTCCCTTCTGCTTCTGTCCACAGTGCCAAAAGCCCAGCCCTATGGCCAGAACTCAGCTCTGTGCTCAGGGCTGCTGCACGGCTGCATCTGCTACAGCTGGCTACCCCACAGCCCAGGGGCTCCACCCACACTTTGAGCAGCAGAGTCACCAAGAGTAATTCTAAACTCACAGAACAGTGACAGGGAAGAAGAACTTGCACACTTGGGGACTCCCCACTGTCCCCAGCACCTGGGAGTGAGTTTGAAGGGTAACTAGCCTTGGCCAGCCACCCTGGGCAGCAGACAGAGAGCAAATGGCCAGAATGAACAGGACCTGGAGGGGCCCACTGCCATCCCACAGCCACATCCTCCCCAGCCACTTCTCTGGCCCAGGCCCAGGGCCTTTCAACTGGTGAAGGGTTAATTGGAGGCAGCCTGAGAAGGCAGAGGGCAGGTTCCACTTCCTTTGCTGATGAGTGGCTCTGCCCATTAGCTGCCCCTGCCTGCCCCTCCCCCAGGTGTATTTCCAGACTAGGGATTAACAGTAACTTCTGTGGCTCCCTGAGTGACCCCACTTGGCTTCAGCTTGCTTGCTTGCTTTTTTTTTAAAGATGTGCTGTGGCCTTTGGGCCAGCCACTTGAATGTTATGGGAAAGCCCAGGAGCAGGTGGAAGATTCTGCCCTGGACACTGAAGGGTCCCACTGCGGAGGCACTATCCCATCGTCCCAGGGAAACTTGTCTAGACGCTACTTCACCTCCGTCCCCTAAGGGGGGATGTGACCCCCCTCTTACCTCTGGGCATGACCTTCAGCACATTGCTACCTTCCCTCTCTGCCCTCAATTTTCCTAAGGGAGGTGAGCTCCAGGATCTCTGCAGGGCTTTTGAACTCAGTGTTTTCTGCTAGCTTTGAGCACTTTGGAAGGATGATGTTAGAGAACTTGTGAGAGGAGCTTCTCTTTGAAGGTGTTGAAATGAGCGTGTTTGGATACAGTCCCCTGTTGATGGGCAGGTGGGCAGCCAGGAGGGCATGTTACCTGGCCCGCGGACCATAGTCCCCACTGTCCCAGAGCCTTGGCCAGGCCTGCTGTGCTTGGAACTGTTTCCAAGCCCAGCTCCTCACTGTCTCCATGTTCCCATCTCCAGGGGCAGGCTCCTGCATGGACGGCACTTTACATATAAAAGTATCACAGGTGACATGGCCATCACGTTTGTCTCCACGGGAGTGGAAGGCGCCTTTGCCACTGAGGAGCATCCTTACGCGGCTCATN
pathogenic
167,461
The mutation impacting SUFU (SUFU negative regulator of hedgehog signaling) on chromosome 10 at position 102627189: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Gorlin_syndrome', 'Medulloblastoma']
GGGAGGACACCCCTGGGATAAGAGAGTAGGAGGAGCAAGGGCTTAGGCTGTGAGAGGGAGTACGTGTATGGCTGGAGTCTGTGGGCAGAGTCGGCCAGTCCCACTTTGGGGAATTAGGAAGAACTGTAGGGGTGCACCTCCCCGAACTTTGCCAACTTTGCCTCTCCTGCTCTGTCTCTAAGCCTTGTCTCTGTCCTTGGTCGGGGCCCTAGCTCCTAGAACAGAGAGTTTGGTGAGGAGACGTGGACCAGTGGTCAGAGTTATTTTGTTCCTGCTATGGGCTTGGAGCCTGGGAAGGCTGGGTCTCTTGTCTCCTTGCCAGCCAAAAGAGGGTGCTTGTCCTGGTGGGAAATGAGCTGCCTTCATGCCTGTGTCCCTGGAAGGATGAATGGATGAGTTAGTGTCCTGGGGGTGAGAGTTCAGCATTCGGGAGCAGTACTCCAGGCACTAAATTGAGAGTCCAGACATGATCAGGATATGGTCTTAACCACTCACAAGCCGTGTGACACTGAGCAAATTACATAACCTGCCTGTGCCTGTTTCCTCCACTGTAAGGAGACATGGAGATGAGCAGTTAGCATGCCCGGTATGATGGCGGCTTTTCTGCTCACTTGGGGGTAGTGTTCTTATTTCTCACTCCCTCCTCCACCCCGTCCACTTCTTGCTTTAGAGACCTCCGTCCTGTGAGCTCCCGAGCCGTCCTGTGTGCTCACCTTCCTGTGTGCACTCCTTCCTTGTTATCTCACAGCGTGGAAACTTTTGTTCTTGGCAGCTGACAATTCCCAGGGGAAACCTGGTGGGTATTTTTTCAAGTTCTCAATTCTCCTCCTCACAGGGAGGGTTTCCCCTCAGAGGAGCCCCTCACCTGGATCTTCACCCCATTATCTTTCTTCCTTTGTGCCCTACCTGGGTGCTCAAGGTGTACGGGAGAAGACAGGTAGAGCTGTGGCCTGGGGGTACAGAAGGGTCTGCAGTGGAGGGAGGCTGGGAGGCCCTGGGGACAAGGACAGGGAGGGGGAGGGGTGAAGGAAGGGGTCACAGTTGGAAGAGGAAAGACACCCTCACCCAGGGCGTGGTGGGGTGCAGACCTGGGATCAGCTTGGCCTGGCTCTGCCTAGCAGCCTGACGAGAGGGGTGGGTGGGGAAGAATGGCCCAGCAGATTGAGGAAGGCCGGTTTTAGAGGGCCTGAGAGCCCTTGGACGTTGGTATTGGCTGTGAAAACTTCTTTAGCGGATGAAGTTGGTGTTTGTGCCAGCCAAATAGTGGGGCCAGACTCAGCATCAAAGCGAGAGGCAATGAGGTGTCAGACTAGAACAGCAACGTGGAATGCTGGGAGGTGACCTAGAGAAGAGGAACCTCAAAGAAGGCTGGAGGAACTCAGTGGCTGATCGAGCACAGCAGGTCAGGGGCTTGGGAGCTTCCAGCCTGGGAGGATGTGGCTACTGTGAATGGGAATGGAAGTTGGGAGTCCCTTTGTCATCTGTAAAATGAGACGTTGGTCCACAATCTCCAGATTCTCCAGCTCAGACATTCTTGGATGTACCTTCCAGGGCACTTCCAGATTCCAGATAGGGCTTGTATTCCAAATCCAAACAGTTTCCTTTTGTCCTTCTACGGTGAGGGGCAGAGGGGGACACTAGAGCCTGACTGGGCAGCAGCTTTAATTTAATTTTTTTTCCTTTTAATTTTTCTTTTCTGTTCCTTTTTCTTCCTGAGATTCCTTTTTACCGGCCCCACCAGTGTTCATCTCCCTTCTGGGAGCAGCATTCCCAGCTCTCCCAGTGTCCTCCCTCCCCTCCCCATTGTCCCCTGACCCCTTTCCTTCTATGCCTCAGTCTGATATTGCAGGGAGGTGAGGGTGTGGGGGGAATGACAGCTGGGGACAGGCCTCAAACACTTCCCTGTGTCCCTTGAACAGATCACAGTGAGCTCATCTCTCCTCCATGGTCAGAAGAGAGGTATAACGCTTGGTGGTTGGCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAGAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGACCATGTGTGTGCGTGCGTGTGCACGTCTGTGCATGCATGTGTGCGTGTGTACCTGTGGTGCGTGTGTGCTTGCATGTATCTGTGTGGCTGCATCTGTGGGCTCCTCCCCAAGGTGCAGGGATAGGCTGGAGAGGAGACTGTAGATTTCTCTTCTGTTTCTATGCACCCTCACCATCCCCTGCCCTACCCCCAGCCCTTGTAAGGACACCCAGCAAATCGTCTGAATTGCCAGCTCCTGAGAGCCTCATTGAAGAGGAAGCCAGGGCCTTCAGGCTAGTACGAGTTCTCCCCAGCCCCTGCTGTTCCCTGGCAGATTCTGAACAGAACGCCCATGTCTGTTGCCAGAGAACATTCCGCTGGGGAGTTCTGGTGGGCAGCAAGGGACTCCTGCTCTCGCCTCGGGCCACCCAGGAGCCACTCTCCCTTCTTCGTCCTCCAGCCATGAGCTGTGCCTCTTAGTCTCCCTCTTCCAGCCCTGGCTCAGAGCTGGAGGAGCTGGCAGGCCAGCTGTGGCTGTGCCTTCTTTAGCTGCTCCTCTGGGGTAGAGGAATGGAGTCCATAATCCCCTTTGTTTTTTCTCCCTTGTTCCCGGCATCCTTATTTGCGAGGGCTTACCTCATCCTGGAAAATCCCTTCCCCTCCCCCGCTCCTGCCCGCAGCACCCCAGTGGGATGGGAGCTTTCCTGGCCCCAGTGCCCCATGGGTTAGTGAACTCTAGCAGGCTGGCCGGGCCTCTGGAGAGCTCTCCTGGGCCCTGCCCTGCCTGTGGCAGAGGCAGACCCTTCCCTTGTCCTGTCTGCCAGGAAATGTGCTTGGGGGAGAACTCCTTCGCCTCCCAGGGGCCAGGCTTTCTACCAAGAGGGAGGCCAGGCGGGAGCTAGGTTCCAGCCAGGGCTGGAGCTTCCAGCTTCCAGGGCTCCCTGGGCTGCAACAGCCAGGACACAGGCCTCTGGTGTTTAGGAAGCTGAGGGGAGTGCACAGGGCGGGACCGTCCAGTCCAGGTCTCCAGTTGGACAGGAACTCCCCAGAGCCAGGGTCACCTCAATAGAGCAGGGTCTCCTCTGTCCTCTGGGATGCAGCTTGAGAAATTTGTTCATTTATATATTCCAAAGCCATCAAGCACCCAGTCCATGCCAGCCAATCAACCCCCACAAGTCACTGGTCCCTGAGTCCCAGCTCCCCATTCAGTCAGACCAGAGCCAGCTGCCCAGAAGCGCTTCCGGAGAGGCCTTGTCGCACTGGGATGGCGCTGTGCCAGGCTGCTGCTTTGAGCTTGGGGGTAGGAGGGGGACAGTCCAGGCAAGAGGGACAGAAGCCTGGGGGAGCAGAGGAAAGTAGGTCACTAAAAATGACTTTTTTCTTTTTTTCCTTTTCTGTCCAGAGGCTGTCCCTACACCCTGCCTCACTCGCCACTTTGGTCCTGGCAGAGACAGTCCCCCAGCAGAGGGAGCGAAGAGGGAGGCAGCCAGGAAGGGTCAGGCTCGTCTGCCTCCAGCCCCAGACCGAGGCAGGCTGAGAACACTGTTCTCTCCTTTCCACCCTGCCCTGACTTCCGGCCTAGCCAAATTAGAAAAGACAGACCCTGGGCCGGGCGCAGTGACTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCGGGAATTTGAGACCAGCCTGACCAACATGGAGAAAACCCATCTCTACTAATAATACAATAATTAGCCGGGCTTGGTGGTGCATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCACGAGAATCGCTTGAACCCGGGAAGCAAAAGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAGAAAAAGAAAAGACAGACCCTGTGTCTAAGTTCCGGTATCAGTCCCAGGCAGTGAGCATTTATTGAGCTCCATCTG
GGGAGGACACCCCTGGGATAAGAGAGTAGGAGGAGCAAGGGCTTAGGCTGTGAGAGGGAGTACGTGTATGGCTGGAGTCTGTGGGCAGAGTCGGCCAGTCCCACTTTGGGGAATTAGGAAGAACTGTAGGGGTGCACCTCCCCGAACTTTGCCAACTTTGCCTCTCCTGCTCTGTCTCTAAGCCTTGTCTCTGTCCTTGGTCGGGGCCCTAGCTCCTAGAACAGAGAGTTTGGTGAGGAGACGTGGACCAGTGGTCAGAGTTATTTTGTTCCTGCTATGGGCTTGGAGCCTGGGAAGGCTGGGTCTCTTGTCTCCTTGCCAGCCAAAAGAGGGTGCTTGTCCTGGTGGGAAATGAGCTGCCTTCATGCCTGTGTCCCTGGAAGGATGAATGGATGAGTTAGTGTCCTGGGGGTGAGAGTTCAGCATTCGGGAGCAGTACTCCAGGCACTAAATTGAGAGTCCAGACATGATCAGGATATGGTCTTAACCACTCACAAGCCGTGTGACACTGAGCAAATTACATAACCTGCCTGTGCCTGTTTCCTCCACTGTAAGGAGACATGGAGATGAGCAGTTAGCATGCCCGGTATGATGGCGGCTTTTCTGCTCACTTGGGGGTAGTGTTCTTATTTCTCACTCCCTCCTCCACCCCGTCCACTTCTTGCTTTAGAGACCTCCGTCCTGTGAGCTCCCGAGCCGTCCTGTGTGCTCACCTTCCTGTGTGCACTCCTTCCTTGTTATCTCACAGCGTGGAAACTTTTGTTCTTGGCAGCTGACAATTCCCAGGGGAAACCTGGTGGGTATTTTTTCAAGTTCTCAATTCTCCTCCTCACAGGGAGGGTTTCCCCTCAGAGGAGCCCCTCACCTGGATCTTCACCCCATTATCTTTCTTCCTTTGTGCCCTACCTGGGTGCTCAAGGTGTACGGGAGAAGACAGGTAGAGCTGTGGCCTGGGGGTACAGAAGGGTCTGCAGTGGAGGGAGGCTGGGAGGCCCTGGGGACAAGGACAGGGAGGGGGAGGGGTGAAGGAAGGGGTCACAGTTGGAAGAGGAAAGACACCCTCACCCAGGGCGTGGTGGGGTGCAGACCTGGGATCAGCTTGGCCTGGCTCTGCCTAGCAGCCTGACGAGAGGGGTGGGTGGGGAAGAATGGCCCAGCAGATTGAGGAAGGCCGGTTTTAGAGGGCCTGAGAGCCCTTGGACGTTGGTATTGGCTGTGAAAACTTCTTTAGCGGATGAAGTTGGTGTTTGTGCCAGCCAAATAGTGGGGCCAGACTCAGCATCAAAGCGAGAGGCAATGAGGTGTCAGACTAGAACAGCAACGTGGAATGCTGGGAGGTGACCTAGAGAAGAGGAACCTCAAAGAAGGCTGGAGGAACTCAGTGGCTGATCGAGCACAGCAGGTCAGGGGCTTGGGAGCTTCCAGCCTGGGAGGATGTGGCTACTGTGAATGGGAATGGAAGTTGGGAGTCCCTTTGTCATCTGTAAAATGAGACGTTGGTCCACAATCTCCAGATTCTCCAGCTCAGACATTCTTGGATGTACCTTCCAGGGCACTTCCAGATTCCAGATAGGGCTTGTATTCCAAATCCAAACAGTTTCCTTTTGTCCTTCTACGGTGAGGGGCAGAGGGGGACACTAGAGCCTGACTGGGCAGCAGCTTTAATTTAATTTTTTTTCCTTTTAATTTTTCTTTTCTGTTCCTTTTTCTTCCTGAGATTCCTTTTTACCGGCCCCACCAGTGTTCATCTCCCTTCTGGGAGCAGCATTCCCAGCTCTCCCAGTGTCCTCCCTCCCCTCCCCATTGTCCCCTGACCCCTTTCCTTCTATGCCTCAGTCTGATATTGCAGGGAGGTGAGGGTGTGGGGGGAATGACAGCTGGGGACAGGCCTCAAACACTTCCCTGTGTCCCTTGAACAGATCACAGTGAGCTCATCTCTCCTCCATGGTCAGAAGAGAGGTATAACGCTTGGTGGTTGGCAAAAAGATCATACATTTAAAAATAATAATAAAAGCCTGCCTTGTGCCTTCACAGATTCTGTTGACCGAAAGTTTGTAGAGAAAATGTTGGAGGATTTAGAAGATTTGACTTCTCCAGAGGAAGTAAGCTTGTTTGACTTTTCCTGACAACAGGTCCCGTCTCTGGGACCATGTGTGTGCGTGCGTGTGCACGTCTGTGCATGCATGTGTGCGTGTGTACCTGTGGTGCGTGTGTGCTTGCATGTATCTGTGTGGCTGCATCTGTGGGCTCCTCCCCAAGGTGCAGGGATAGGCTGGAGAGGAGACTGTAGATTTCTCTTCTGTTTCTATGCACCCTCACCATCCCCTGCCCTACCCCCAGCCCTTGTAAGGACACCCAGCAAATCGTCTGAATTGCCAGCTCCTGAGAGCCTCATTGAAGAGGAAGCCAGGGCCTTCAGGCTAGTACGAGTTCTCCCCAGCCCCTGCTGTTCCCTGGCAGATTCTGAACAGAACGCCCATGTCTGTTGCCAGAGAACATTCCGCTGGGGAGTTCTGGTGGGCAGCAAGGGACTCCTGCTCTCGCCTCGGGCCACCCAGGAGCCACTCTCCCTTCTTCGTCCTCCAGCCATGAGCTGTGCCTCTTAGTCTCCCTCTTCCAGCCCTGGCTCAGAGCTGGAGGAGCTGGCAGGCCAGCTGTGGCTGTGCCTTCTTTAGCTGCTCCTCTGGGGTAGAGGAATGGAGTCCATAATCCCCTTTGTTTTTTCTCCCTTGTTCCCGGCATCCTTATTTGCGAGGGCTTACCTCATCCTGGAAAATCCCTTCCCCTCCCCCGCTCCTGCCCGCAGCACCCCAGTGGGATGGGAGCTTTCCTGGCCCCAGTGCCCCATGGGTTAGTGAACTCTAGCAGGCTGGCCGGGCCTCTGGAGAGCTCTCCTGGGCCCTGCCCTGCCTGTGGCAGAGGCAGACCCTTCCCTTGTCCTGTCTGCCAGGAAATGTGCTTGGGGGAGAACTCCTTCGCCTCCCAGGGGCCAGGCTTTCTACCAAGAGGGAGGCCAGGCGGGAGCTAGGTTCCAGCCAGGGCTGGAGCTTCCAGCTTCCAGGGCTCCCTGGGCTGCAACAGCCAGGACACAGGCCTCTGGTGTTTAGGAAGCTGAGGGGAGTGCACAGGGCGGGACCGTCCAGTCCAGGTCTCCAGTTGGACAGGAACTCCCCAGAGCCAGGGTCACCTCAATAGAGCAGGGTCTCCTCTGTCCTCTGGGATGCAGCTTGAGAAATTTGTTCATTTATATATTCCAAAGCCATCAAGCACCCAGTCCATGCCAGCCAATCAACCCCCACAAGTCACTGGTCCCTGAGTCCCAGCTCCCCATTCAGTCAGACCAGAGCCAGCTGCCCAGAAGCGCTTCCGGAGAGGCCTTGTCGCACTGGGATGGCGCTGTGCCAGGCTGCTGCTTTGAGCTTGGGGGTAGGAGGGGGACAGTCCAGGCAAGAGGGACAGAAGCCTGGGGGAGCAGAGGAAAGTAGGTCACTAAAAATGACTTTTTTCTTTTTTTCCTTTTCTGTCCAGAGGCTGTCCCTACACCCTGCCTCACTCGCCACTTTGGTCCTGGCAGAGACAGTCCCCCAGCAGAGGGAGCGAAGAGGGAGGCAGCCAGGAAGGGTCAGGCTCGTCTGCCTCCAGCCCCAGACCGAGGCAGGCTGAGAACACTGTTCTCTCCTTTCCACCCTGCCCTGACTTCCGGCCTAGCCAAATTAGAAAAGACAGACCCTGGGCCGGGCGCAGTGACTCATGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCGGGAATTTGAGACCAGCCTGACCAACATGGAGAAAACCCATCTCTACTAATAATACAATAATTAGCCGGGCTTGGTGGTGCATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCACGAGAATCGCTTGAACCCGGGAAGCAAAAGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAGAAAAAGAAAAGACAGACCCTGTGTCTAAGTTCCGGTATCAGTCCCAGGCAGTGAGCATTTATTGAGCTCCATCTGN
pathogenic
167,497
Chromosome 10, position 102830761, gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['17-alpha-hydroxylase/17,20-lyase_deficiency,_combined_complete', 'Deficiency_of_steroid_17-alpha-monooxygenase']
AGGTGCCTGCCACCACGCCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTAGTCTAGAACTCCACACCTCAGGCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACACACACACACACACACACACACACACACAAACAAACAGAAAACAAAAGATAAACTCAATCCTACCACTTCTCACTGTTTCCACTGCTGTGGCCGTGGTTTAACTCATCAACATCTGGCTTTCCTGGACCAGCACAACAGCCTCCTTCCTAACTGTTCTCCTGCTCCCACTCCCATCCCTTAGCAGAACATTCTCCACACAGCAACTACGGCGATCTTTCAGAAATACAAACCAGCTGGGCACAGCGGCTCATGCCTATAATCCAAACACTTTGGGAGGCTGAGGTGGGAGAAGCGCTTGAGCTTAGGAGTTTGAGACCAGCCTAGAAAACACAGCAAAACCCCATCTCTACAAAAAGTAAAACATTAGTCAGGCCTGGTGATGTGTGCCTGTAGTCCTAGTTACTTGGGATGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAATCAGCCTGGCAACAGAGTGAGACCATGTCACTCAAAAAACAGAACAAAAAACAACAACAAAAAAACCCAAACAAAACAAAACAAAAAACAGGCTAGGCGCTGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGCAATCCCAGCTATTTTGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGGCAGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCAGGGCAACAAGAGCGAAACTCCTTCTCAAACAAAAACAAAAACAAAAAAACAGATTGTTCCACTTACATACTTAAAATCCTCCAGTGACTTCCTGTCATAATTAGAATAAAACCCAACCTCCCTCCTGGCCTCCTGTAATCCCAGCTACAGTGGGAACGGACCACTATGTCCACTCTGACCTCATCAGGGCCCACTCTCCCCTTCACTGGCCATGCTGACCTCTCCCACCTGGAGGCCTTTTTACCTGCTTCTCAGCATGCAACACTTTTCCTGACCCCTTGTTCAAAGCAGCCACCCACTGCCTCTGCCATTTTCTCATCACATCACACAAATTGTGATTGACTTCAAAGCACTTACGAGTCTCTGAACTTATTCACTTGTTAGCCCTCACTAGAATGTAAGCTTCAGAGACCACGGAGCTCGAGTGTCCTGAGAAAGTGAATGGCACATAGTAGGTGCTCAATAAAATCGGTGTTGAAAGAATGAGTGAGCAAATGAATACATAAATGAACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTTACTGACGGTGAGATGAGCTGGGTCCCCGCTGGATTCAAGAAACGCTCTGCAGGCAAGGAGTGGCATCAGCCAGGGGTTAGGGCAGGAGGGAGGAGAGGCATGGTTCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGC
AGGTGCCTGCCACCACGCCCGGGTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTAGTCTAGAACTCCACACCTCAGGCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACACACACACACACACACACACACACACACAAACAAACAGAAAACAAAAGATAAACTCAATCCTACCACTTCTCACTGTTTCCACTGCTGTGGCCGTGGTTTAACTCATCAACATCTGGCTTTCCTGGACCAGCACAACAGCCTCCTTCCTAACTGTTCTCCTGCTCCCACTCCCATCCCTTAGCAGAACATTCTCCACACAGCAACTACGGCGATCTTTCAGAAATACAAACCAGCTGGGCACAGCGGCTCATGCCTATAATCCAAACACTTTGGGAGGCTGAGGTGGGAGAAGCGCTTGAGCTTAGGAGTTTGAGACCAGCCTAGAAAACACAGCAAAACCCCATCTCTACAAAAAGTAAAACATTAGTCAGGCCTGGTGATGTGTGCCTGTAGTCCTAGTTACTTGGGATGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAATCAGCCTGGCAACAGAGTGAGACCATGTCACTCAAAAAACAGAACAAAAAACAACAACAAAAAAACCCAAACAAAACAAAACAAAAAACAGGCTAGGCGCTGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGCAATCCCAGCTATTTTGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGGCAGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCAGGGCAACAAGAGCGAAACTCCTTCTCAAACAAAAACAAAAACAAAAAAACAGATTGTTCCACTTACATACTTAAAATCCTCCAGTGACTTCCTGTCATAATTAGAATAAAACCCAACCTCCCTCCTGGCCTCCTGTAATCCCAGCTACAGTGGGAACGGACCACTATGTCCACTCTGACCTCATCAGGGCCCACTCTCCCCTTCACTGGCCATGCTGACCTCTCCCACCTGGAGGCCTTTTTACCTGCTTCTCAGCATGCAACACTTTTCCTGACCCCTTGTTCAAAGCAGCCACCCACTGCCTCTGCCATTTTCTCATCACATCACACAAATTGTGATTGACTTCAAAGCACTTACGAGTCTCTGAACTTATTCACTTGTTAGCCCTCACTAGAATGTAAGCTTCAGAGACCACGGAGCTCGAGTGTCCTGAGAAAGTGAATGGCACATAGTAGGTGCTCAATAAAATCGGTGTTGAAAGAATGAGTGAGCAAATGAATACATAAATGAACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTTACTGACGGTGAGATGAGCTGGGTCCCCGCTGGATTCAAGAAACGCTCTGCAGGCAAGGAGTGGCATCAGCCAGGGGTTAGGGCAGGAGGGAGGAGAGGCATGGTTCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCNNNNNNNNN
pathogenic
167,549
Determine whether the variant at chromosome 10, position 102830790, in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['17-alpha-hydroxylase/17,20-lyase_deficiency,_combined_complete', 'Congenital_adrenal_hyperplasia', 'Deficiency_of_steroid_17-alpha-monooxygenase']
TTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTAGTCTAGAACTCCACACCTCAGGCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACACACACACACACACACACACACACACACAAACAAACAGAAAACAAAAGATAAACTCAATCCTACCACTTCTCACTGTTTCCACTGCTGTGGCCGTGGTTTAACTCATCAACATCTGGCTTTCCTGGACCAGCACAACAGCCTCCTTCCTAACTGTTCTCCTGCTCCCACTCCCATCCCTTAGCAGAACATTCTCCACACAGCAACTACGGCGATCTTTCAGAAATACAAACCAGCTGGGCACAGCGGCTCATGCCTATAATCCAAACACTTTGGGAGGCTGAGGTGGGAGAAGCGCTTGAGCTTAGGAGTTTGAGACCAGCCTAGAAAACACAGCAAAACCCCATCTCTACAAAAAGTAAAACATTAGTCAGGCCTGGTGATGTGTGCCTGTAGTCCTAGTTACTTGGGATGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAATCAGCCTGGCAACAGAGTGAGACCATGTCACTCAAAAAACAGAACAAAAAACAACAACAAAAAAACCCAAACAAAACAAAACAAAAAACAGGCTAGGCGCTGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGCAATCCCAGCTATTTTGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGGCAGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCAGGGCAACAAGAGCGAAACTCCTTCTCAAACAAAAACAAAAACAAAAAAACAGATTGTTCCACTTACATACTTAAAATCCTCCAGTGACTTCCTGTCATAATTAGAATAAAACCCAACCTCCCTCCTGGCCTCCTGTAATCCCAGCTACAGTGGGAACGGACCACTATGTCCACTCTGACCTCATCAGGGCCCACTCTCCCCTTCACTGGCCATGCTGACCTCTCCCACCTGGAGGCCTTTTTACCTGCTTCTCAGCATGCAACACTTTTCCTGACCCCTTGTTCAAAGCAGCCACCCACTGCCTCTGCCATTTTCTCATCACATCACACAAATTGTGATTGACTTCAAAGCACTTACGAGTCTCTGAACTTATTCACTTGTTAGCCCTCACTAGAATGTAAGCTTCAGAGACCACGGAGCTCGAGTGTCCTGAGAAAGTGAATGGCACATAGTAGGTGCTCAATAAAATCGGTGTTGAAAGAATGAGTGAGCAAATGAATACATAAATGAACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTTACTGACGGTGAGATGAGCTGGGTCCCCGCTGGATTCAAGAAACGCTCTGCAGGCAAGGAGTGGCATCAGCCAGGGGTTAGGGCAGGAGGGAGGAGAGGCATGGTTCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAG
TTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTAGTCTAGAACTCCACACCTCAGGCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACACACACACACACACACACACACACACACAAACAAACAGAAAACAAAAGATAAACTCAATCCTACCACTTCTCACTGTTTCCACTGCTGTGGCCGTGGTTTAACTCATCAACATCTGGCTTTCCTGGACCAGCACAACAGCCTCCTTCCTAACTGTTCTCCTGCTCCCACTCCCATCCCTTAGCAGAACATTCTCCACACAGCAACTACGGCGATCTTTCAGAAATACAAACCAGCTGGGCACAGCGGCTCATGCCTATAATCCAAACACTTTGGGAGGCTGAGGTGGGAGAAGCGCTTGAGCTTAGGAGTTTGAGACCAGCCTAGAAAACACAGCAAAACCCCATCTCTACAAAAAGTAAAACATTAGTCAGGCCTGGTGATGTGTGCCTGTAGTCCTAGTTACTTGGGATGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAATCAGCCTGGCAACAGAGTGAGACCATGTCACTCAAAAAACAGAACAAAAAACAACAACAAAAAAACCCAAACAAAACAAAACAAAAAACAGGCTAGGCGCTGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGCAATCCCAGCTATTTTGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGGCAGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCAGGGCAACAAGAGCGAAACTCCTTCTCAAACAAAAACAAAAACAAAAAAACAGATTGTTCCACTTACATACTTAAAATCCTCCAGTGACTTCCTGTCATAATTAGAATAAAACCCAACCTCCCTCCTGGCCTCCTGTAATCCCAGCTACAGTGGGAACGGACCACTATGTCCACTCTGACCTCATCAGGGCCCACTCTCCCCTTCACTGGCCATGCTGACCTCTCCCACCTGGAGGCCTTTTTACCTGCTTCTCAGCATGCAACACTTTTCCTGACCCCTTGTTCAAAGCAGCCACCCACTGCCTCTGCCATTTTCTCATCACATCACACAAATTGTGATTGACTTCAAAGCACTTACGAGTCTCTGAACTTATTCACTTGTTAGCCCTCACTAGAATGTAAGCTTCAGAGACCACGGAGCTCGAGTGTCCTGAGAAAGTGAATGGCACATAGTAGGTGCTCAATAAAATCGGTGTTGAAAGAATGAGTGAGCAAATGAATACATAAATGAACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTTACTGACGGTGAGATGAGCTGGGTCCCCGCTGGATTCAAGAAACGCTCTGCAGGCAAGGAGTGGCATCAGCCAGGGGTTAGGGCAGGAGGGAGGAGAGGCATGGTTCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGG
pathogenic
167,551
A genetic alteration at chromosome 10, position 102830857, in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase']
GCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACACACACACACACACACACACACACACACAAACAAACAGAAAACAAAAGATAAACTCAATCCTACCACTTCTCACTGTTTCCACTGCTGTGGCCGTGGTTTAACTCATCAACATCTGGCTTTCCTGGACCAGCACAACAGCCTCCTTCCTAACTGTTCTCCTGCTCCCACTCCCATCCCTTAGCAGAACATTCTCCACACAGCAACTACGGCGATCTTTCAGAAATACAAACCAGCTGGGCACAGCGGCTCATGCCTATAATCCAAACACTTTGGGAGGCTGAGGTGGGAGAAGCGCTTGAGCTTAGGAGTTTGAGACCAGCCTAGAAAACACAGCAAAACCCCATCTCTACAAAAAGTAAAACATTAGTCAGGCCTGGTGATGTGTGCCTGTAGTCCTAGTTACTTGGGATGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAATCAGCCTGGCAACAGAGTGAGACCATGTCACTCAAAAAACAGAACAAAAAACAACAACAAAAAAACCCAAACAAAACAAAACAAAAAACAGGCTAGGCGCTGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGCAATCCCAGCTATTTTGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGGCAGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCAGGGCAACAAGAGCGAAACTCCTTCTCAAACAAAAACAAAAACAAAAAAACAGATTGTTCCACTTACATACTTAAAATCCTCCAGTGACTTCCTGTCATAATTAGAATAAAACCCAACCTCCCTCCTGGCCTCCTGTAATCCCAGCTACAGTGGGAACGGACCACTATGTCCACTCTGACCTCATCAGGGCCCACTCTCCCCTTCACTGGCCATGCTGACCTCTCCCACCTGGAGGCCTTTTTACCTGCTTCTCAGCATGCAACACTTTTCCTGACCCCTTGTTCAAAGCAGCCACCCACTGCCTCTGCCATTTTCTCATCACATCACACAAATTGTGATTGACTTCAAAGCACTTACGAGTCTCTGAACTTATTCACTTGTTAGCCCTCACTAGAATGTAAGCTTCAGAGACCACGGAGCTCGAGTGTCCTGAGAAAGTGAATGGCACATAGTAGGTGCTCAATAAAATCGGTGTTGAAAGAATGAGTGAGCAAATGAATACATAAATGAACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTTACTGACGGTGAGATGAGCTGGGTCCCCGCTGGATTCAAGAAACGCTCTGCAGGCAAGGAGTGGCATCAGCCAGGGGTTAGGGCAGGAGGGAGGAGAGGCATGGTTCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCAC
GCGATCCACCCATCTCGGACTCCCAAAGTGCTGGAATTACAGGCACGAGCCACCACGCCCGGCCTGCCCTACTTTCAAAATATAAACTCAGGCCAGGCTCGGTGGCTCACACCTGTAGTCCTGGCACTTTGGGAGGCTGAGGTGGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTGGTAAAAATAAAAAAATTATCCAGGCGCCTGTAATTCCAGCTACTTGGGAGACTGAGGCAGCAGAATCGCTCAAGGGAGGTGGAGGTTGTAGTGAGCTGAGATTGTGCCATTGCAGTCCAGCCTGTGTGAAAGAGCAAGAGTCTGTCTCAAAACACACACACACACACACACACACACACACACACACACACACACAAACAAACAGAAAACAAAAGATAAACTCAATCCTACCACTTCTCACTGTTTCCACTGCTGTGGCCGTGGTTTAACTCATCAACATCTGGCTTTCCTGGACCAGCACAACAGCCTCCTTCCTAACTGTTCTCCTGCTCCCACTCCCATCCCTTAGCAGAACATTCTCCACACAGCAACTACGGCGATCTTTCAGAAATACAAACCAGCTGGGCACAGCGGCTCATGCCTATAATCCAAACACTTTGGGAGGCTGAGGTGGGAGAAGCGCTTGAGCTTAGGAGTTTGAGACCAGCCTAGAAAACACAGCAAAACCCCATCTCTACAAAAAGTAAAACATTAGTCAGGCCTGGTGATGTGTGCCTGTAGTCCTAGTTACTTGGGATGCTGAGGTGGGAGGATCACTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAATCAGCCTGGCAACAGAGTGAGACCATGTCACTCAAAAAACAGAACAAAAAACAACAACAAAAAAACCCAAACAAAACAAAACAAAAAACAGGCTAGGCGCTGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGCAATCCCAGCTATTTTGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGAGGCAGGGGTTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCAGGGCAACAAGAGCGAAACTCCTTCTCAAACAAAAACAAAAACAAAAAAACAGATTGTTCCACTTACATACTTAAAATCCTCCAGTGACTTCCTGTCATAATTAGAATAAAACCCAACCTCCCTCCTGGCCTCCTGTAATCCCAGCTACAGTGGGAACGGACCACTATGTCCACTCTGACCTCATCAGGGCCCACTCTCCCCTTCACTGGCCATGCTGACCTCTCCCACCTGGAGGCCTTTTTACCTGCTTCTCAGCATGCAACACTTTTCCTGACCCCTTGTTCAAAGCAGCCACCCACTGCCTCTGCCATTTTCTCATCACATCACACAAATTGTGATTGACTTCAAAGCACTTACGAGTCTCTGAACTTATTCACTTGTTAGCCCTCACTAGAATGTAAGCTTCAGAGACCACGGAGCTCGAGTGTCCTGAGAAAGTGAATGGCACATAGTAGGTGCTCAATAAAATCGGTGTTGAAAGAATGAGTGAGCAAATGAATACATAAATGAACTACTCAGGGACCTTATGGAAAAAAAAAAACTGTTTATGCACATCACTGGCATTGCCACAAGCTGAAAAAGAAGGCAGAGTGGGTTGGGAGTAGGGAAGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTTACTGACGGTGAGATGAGCTGGGTCCCCGCTGGATTCAAGAAACGCTCTGCAGGCAAGGAGTGGCATCAGCCAGGGGTTAGGGCAGGAGGGAGGAGAGGCATGGTTCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACN
pathogenic
167,552
A genetic variant on chromosome 10, position 102832663, affects the gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['CYP17A1-related_disorder', 'Deficiency_of_steroid_17-alpha-monooxygenase']
AGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTTACTGACGGTGAGATGAGCTGGGTCCCCGCTGGATTCAAGAAACGCTCTGCAGGCAAGGAGTGGCATCAGCCAGGGGTTAGGGCAGGAGGGAGGAGAGGCATGGTTCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGA
AGAATGGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTTACTGACGGTGAGATGAGCTGGGTCCCCGCTGGATTCAAGAAACGCTCTGCAGGCAAGGAGTGGCATCAGCCAGGGGTTAGGGCAGGAGGGAGGAGAGGCATGGTTCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCTTGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAN
pathogenic
167,586
A mutation at chromosome position 102832668 on chromosome 10 in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Congenital_adrenal_hyperplasia', 'Deficiency_of_steroid_17-alpha-monooxygenase']
GGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTTACTGACGGTGAGATGAGCTGGGTCCCCGCTGGATTCAAGAAACGCTCTGCAGGCAAGGAGTGGCATCAGCCAGGGGTTAGGGCAGGAGGGAGGAGAGGCATGGTTCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAA
GGCGGAGAAGGGTGGGGGGTTGTATCTCTAAATCTGTGTTGTGGGGCCACATAGGGTGGACAGGGGCTGTGAGTTACAGCCTTTAGGTGCTACCCTCAGCCTGGGCTTCCCTCCAGGCCTGGCGCACCTTGATCTTCACTTTGAAAGAGTCGATCAGAAAGACCACCTTGGGGATGCCTTCCAGGGAGGGCAGCTGCCCATCATCTGGCACCTCCAGGTCGAACCTCTGCAGCAGCCAGGCCATGATGAGGAAGAGCTCCTGGCGGGCCAGGATCTCACCTATACAGGAGCGAGGTCCTGCTCCGAAGGGCAAATAGCTTACTGACGGTGAGATGAGCTGGGTCCCCGCTGGATTCAAGAAACGCTCTGCAGGCAAGGAGTGGCATCAGCCAGGGGTTAGGGCAGGAGGGAGGAGAGGCATGGTTCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAANNN
pathogenic
167,587
The mutation impacting CYP17A1 on chromosome 10 at position 102833092: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase']
TCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCA
TCTGCCCTGGTTGAGGGGGAGACATGGCCCTGCCCAGGGAACCCTGATCTGAGGATGTAGCCTTATTATGGGGGAACCCCCGCCTGGGGAGAGATACAGCCCTGCTTTCAGGTAGCCCTTAACGACACAGAGGAAATGAAATATTCAGGAAGGATGGAAAAGAGATGGAATTAACCTATGAAAATAGCACCATCCGAGGGGAGAAGGGACAGACTTAATGGCAGACAGAGGCGTAGAGGGCTTCTTGGAGGGTGAATTTGCAGTTGGTTGGAAGAAGAGCGTGGGAAACCCAGCTGTGAAGAGTTTGGGTAAGTCTATGGCAGGATGAGGGTGTCAACAGGTCCGTATAGTTGGAGCCAAGAGTTTTCTAGCAGCAAGCTTGGCAGAGGTGAAGGGGTACTGGGGTGGTGGAGCAGAGTCCAGGCTCGCTGTGTGGCCCAGGGCGCAGGACAGGACAGACTCACCAGGCATGAACTGATCCGGCTGGTGCCACTCCTTCTCATTGTGATGCAGCGCCCACAGATTGATGATAACTTCTGTGCCCTTGTCCACAGCAAACTCACCGATGCTGCTCCAGAGTGGAAGAGGAAAAGTGGGTCTGGGACTTCGTACTCCCTTCCTTGCTCAGCCTCATGCCCCCTCATTCTTCCGCCGTGAGGAAAATGCCCTTTACTCCCTCATTCCCACTCACTCATGTTTTCCTCAGCTTCTGCCAGATCAAACCTAAATCCAGCCCTTCTCCATCCCTTCCCTCCTAACAGGCGCTTCTGTCTGAACACCTGTGTCTGTGGACTTTGGTGTCTGGCAGTGTATGTGGGTGTGCGTTTGGAGCTGCAGCGCATGTTATGTGCGTGCTGCAGCTGGTTGGAACATGGAGCTCCCAGCCTTTCATCCCAGACCACATGTCTCTGAGGGCAGCAGGAAGCTCCTCTGGGAAGTCAGGCAGATCTGTGGATGAGTCAATGCGTGTCTGTAGGTGGTAGAGACATGGAGCCACGGGGCTGGGGGCAGGATGATTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAN
pathogenic
167,590
The mutation impacting CYP17A1 on chromosome 10 at position 102834108: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase']
TTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGG
TTTTTATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
167,596
Is chromosome 10, position 102834113, gene CYP17A1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['CYP17A1-related_disorder', 'Deficiency_of_steroid_17-alpha-monooxygenase']
ATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGA
ATATTTAATTAATTAATTATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTG
pathogenic
167,597
Clinical impact (benign or pathogenic) of the variant at chromosome 10, location 102834131, gene CYP17A1: what disease(s) if pathogenic?
pathogenic; ['17-alpha-hydroxylase/17,20-lyase_deficiency,_combined_complete', 'Congenital_adrenal_hyperplasia', 'Deficiency_of_steroid_17-alpha-monooxygenase']
ATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGG
ATTTATTTTGAGACAGAGTCCCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCGCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGCGCCACGATGCATGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTGAACCCCTGACCTCATGATCCACCCGCCTCGACCTCCCAAAGTGTTGGGATGACAGGTGTGAGCCACCGTGCCCGGCCGGCAGGATGATTTTTAGTAGTTGATGGTTGACTGACTTTAGGTTGGCCAGCAGGGGCCGGGGGTAGGGGGAGCCAGGTGGGCTGGCAAGCAGTGTTGAATGCATCATGGGGCTAGATGTCACTGGGAGGGCAGGCACACCTGGAGTCAACGTTGGCCTTGTGGGGGATGAGCATAGGGGCCACGGGCCTGAGGCGAAGCACCTCTCGGATGGTGGCCTCCAGCAGGAGGAGACGGTTACGGTCACTGATAGTTGGTGTGCGGCTGAAACCCACATTCTGGTCAATCTCCTCGTAGAGCTTCTTCTTCACCTGAAGACCAGAGTAGGTTGGAGGTGACTAGTGTGTGTAAGCCCAGGAGAAGCAAGGGCTTAGAGAAGAATCCAACTGTGACATCGAGAAGAGCCTGTCCAGTCCCTTCCCAGTAGTGGCTCTGGGGCCCAGGCCCGGCTTCCAGAAGATGGGGCAGCTCTACTCTGGGGTCAAAGCCAACTACTGCTTGGGTAAGGAGCAGGGCAGGCCTAGTCTTCCTGCACAGAAAGCCTGAGAGAATTGGCTCTCCCTTTCTCTGGAGCCCAGAGATTGGGCTGGCTGGGGTCTAGGATCAATGAGGGGGAAGCACACCTGAGGATTGTGCAGCAGGAAGGCCAGGGTCCATTTAACCACAGAGGTGGTGGTCTCCACGCCAGCCCCAAAGATGTCCCCTATGGTGGTGAGAATGTGGTTATCTGAAAGCAGCTCTGAGTCTTGATCTGGGCCAGCATTGCCATTATCTGAGTTCATCTTGGCTTGCATCAGTGTGTCCAGCATGTTGGTGATAGAGTCACTCCGGAATTTCTCCTGGGTTGGGTGAGGTTGGGAGACATTAATAAGGAAGGAGCCCCATCTGTGACACTCCTGCCATACTTCTGTCCCTGACTAGAGATAACAAGGCTCCTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGNNNN
pathogenic
167,598
Evaluate the clinical significance of the mutation at chromosome 10, position 102835353 in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase']
CTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTTCTGCAGCTTGAAGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGTGGA
CTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTTCTGCAGCTTGAAGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGTGG
pathogenic
167,610
Clinically, how would you classify the variant at chromosome 10, position 102835353, gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Congenital_adrenal_hyperplasia', 'Deficiency_of_steroid_17-alpha-monooxygenase']
CTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTTCTGCAGCTTGAAGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGTGGA
CTTCCACTTGGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTTCTGCAGCTTGAAGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGT
pathogenic
167,611
Clinical classification of chromosome 10, position 102835362, gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase']
GGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTTCTGCAGCTTGAAGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGTGGAGTAGAAGAG
GGAAGTAGAGCAAGTCTGGGCAGGACCTACGAACTTGTGGAGGTAGGAGGCAGCCCCGGGCCCTCTTTAAATTTGGTGGAGAGGTTAGGTCTCTTCTAGGATCCTCTTCAGTTCCTCACTTTTCGATCCCAACTCCTTGAGTCAGTTTTTTTTTTTTTTTTGAGACAGAATCTTGGTGCAATGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCTTCTCGGGTTCAAGTGAGTCTCCTGCCTCAGCCTCCCAAATAGCTGGGATTATAGGCATGCGCCACCGTGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGAGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAATGTTGGGATTACAGGTGTGAGCCATCTTGCCTGGCCTAGTTTTTGTATTTTTAGTACAGACGGGGTTTCACCATATTGGCCAGGCTCATCTCGAACTCCTGACCTCAATTGATCTGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTAAGTCAGTTTTTATTGTACACCTACTATGTGCCAGGTTCTCTGCTTGGTTTTGAAGCTTCTACAGTGTGTAGAATGGACTCCACCCTGCTCTTGTGATTACTTTTAGCCTAACTCATATTCTCTTCTGCTCTATCACCTACCTTGTAATTTTCAAGTATTTTATTCAGCAGATCATTTCGTATTTTAACATGGCTCTTTAATTTTTCCAGGGTTTTGTTGGGGAAAATCTGGGAAATAAAAAGAAATGTTAAATCCACCCTTCTTCCATTTTGCTTCTCCAGCTGCCAGAGTCTCTCCTGGAGGCGGATCTTAGCTTTCTGTCTCTGGAAGTTCCTACTCCACCCCTGACCTTCAGCCAGAATGGAAGGCAAGATGGGGACACAGAACGGGTTTATCATGACGACGAAGACAATTCTAAACAAGGGAGGAGGGCGTGGTCTCCACCTCTCCTTCCCCATTCAATCAAACATCAAGCGCTGACTCTGCTATGTGTCCAGCCCTTAGGAGTGAGAGAGACATGAGCCTGAAGGCTCAGACAAGCTCCTTAACCCCGCTAAGCCTGCTTCTCACCTGCACAATGGGGATAATAAAACCTACTTCCAAGGGGAATTCAGCGATGAATGCGTATAGAATGCTTAGTACTGGCACATGGTAATTGGAAAAGAAATGAAGGTCATTATCTGGAGTACTAAGGTGCATAATTAAAAGGCTAAATCTATCTCTGCAGAGAAATGGCAAAGGTTTTAAGTGGCAGAGGAGGTAGAGGTGGCGGAGGTAATCAGGAAAAAGATGGGTCATTGCGGCTGGAGCAGGGAAGTAAAAAGGAAGGAAGATTGGGGACAATGTCAGGGTCTACTAGAACCTGAAGGCAGGGCTGGCAGCATCTCACCTTCAACCAGGGGACTAGGTCCACCAGGCTGTCTTTGCTCAGGTTGTCTATGATGCCTTCATTGTAATTCTGTATGACATTCAACTCAGGGTCCCCATTCTTGTAGGAGGTATTGAAGCAGATCAAGGAGATGACATTGGTTACCGCCACGAAGACAGGAAAGGAGATGTCTATGGACTGTCCGTTGTGGGTGGCCAGCATATCACACAATGTACTGATTTCCTGACAAACTGAAGGGAGAGGGGGCATGAGGGTGGGAAATGAATCAGCACCCTTACCCCCTCTCTGTACCAGTTGCCTCTTAACAGGAGCGGGGGACAGATAGCAGATGGCCACTAGATGGCAGCAGTAGCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTAACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTTCTGCAGCTTGAAGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGTGGAGTAGAAGA
pathogenic
167,612
Mutation found at chromosome 10 position 102837184, gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase']
GCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTTCTGCAGCTTGAAGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGTGGAGTAGAAGAGCTGTGGCAACTCTAGGGCACAAGGAGGCCTTTTAAAGGGCTACCCTGATCTTCACCTTGACTTTGTGTTATCTCTTGCCTTGTGGAAAGATTCTCCTGGAGCCCAGCCAGGCCTGAGCTCATATCCAGAAGGGAGAGAGGCGGTGGGAGTGAAGGCCTCCTCAAGGGCTGGCTCAACTCCAGGGCAAACCTCCGGAGGAGGAGCTAGGTAAGGGAGGTCAGTTGATCACCCTCTGAGGAGCTCCCCATGCTTGAATGACTCCAGAGTGCGAATGGTATCTGGGCTCAGGAGTCAAGGCTTGGAACTTTCCATGTTGCAAAATCAAAATCACTGGACAGATGACAGATTCAGGAGGGTCACAAGTAGCAGGGACTGTTAAAGGTCTTTTATGCTTCTTTTTTTTTTTTTCAGAGTCTTGCTCCATCACCAGGCTGGTGTGCAGTGGTGTGACTGTCCATGCAGCCCTGGCCCTCCAGCCCATGTGGTTTTGGCAGCGATAAGGGCTGTGGGTTAATGGTCCCCAAAATAAAAATGTACATGTGTATGGGAACGAAAGGGGTGCTAAGCTGTGGGGAGCGGTGGAAGGGAAGGGAGAGATAGGTCAGTACTAGGAATGCCAGAGGTGGGAGGCCGTTTCATAACATTTCTTGTTGATCAAAATGCCATCAACACCTTCTTTGCTCATCAGCAGGACTAGCGTACTGGGGGAACCCACCCCCAATATTTCAACGTAGGTTCTTTCTATAAGTGTCAGCCGGCTGAGAAATAAAGAGAGACAGTATAAAGAGAGGAATTTTACAGCTGGGCCGCCGGGGGTGGCATCACATATCGGTAGGACTGTGATACCCACCTGAGCCTCAAACCAGCAAGTTTTTATTAAGGGTTTCAAAAAGGGGAGGGGGTGTAAGAACAGGGAGTAGGTACAAAGATCACATGCTTCAAAGGGCGAAAAGCAGAACTACTAATAAGTGTCTAACAAAGATCACATGCTTCTGAGGGAAAGGACAAAGGGCAAAAGCAGAACTACCGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACCACTGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACTACAGATGAGGGTCTATGTTCAGCGGTGCACATACTGTCTTGATAAACACCTTAAACAACAGCAAACAGGGTTCGACAGCAGAGAACCGGTCTGACCACAAATTTACCAGGGCGGAGTTTTTCCCCACCCTAGTAAGCCTGAGGGTACTGCAGGAGACCAGGGCGTATCTCAGTCCTTATCTCAACTGCACAAGATAGACATTCCCAGAGCGGCTGTTTATAGACCTCCCCCCAGGAATGCATTCCTTTCCCAGGGTATTAATAATAATACTCCTTGCTAGGAAAAGAATTTAGTGATATCTTCCCTACTTGCATGTCCATTTATAGCCTCTCTCAAGAAGGAAAATATGGCTCTTTCTGCCCGACCCTGCAGGCAGTCAGACCTTATGGTTGTTTTCCCTTGTTCCCTAAAAATTGCTCTTATTCTGTTCTTTTTCAAGGTGCACTAATTTCATATTGTTCAAACACATGTCTTACAATCAATTTGTACAGTTAACACAATTATCACAGTGGTCCTGAAGTGACAAACATCCTCAGCTTACAAAGATAACAGGATTAAGAGATTAAAGTAAAGACAGGCATAAGAAATTATAAAAGTATTATTTGGGAACTGATAAATGTCCATATTAAAATGAAATCTTCACAATTTATGTTCCTCTGCCATGGCTCCAGCCAGTCCCTCCATTCAGGGTCCCTGA
GCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTTTCTGCAGCTTGAAGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGTGGAGTAGAAGAGCTGTGGCAACTCTAGGGCACAAGGAGGCCTTTTAAAGGGCTACCCTGATCTTCACCTTGACTTTGTGTTATCTCTTGCCTTGTGGAAAGATTCTCCTGGAGCCCAGCCAGGCCTGAGCTCATATCCAGAAGGGAGAGAGGCGGTGGGAGTGAAGGCCTCCTCAAGGGCTGGCTCAACTCCAGGGCAAACCTCCGGAGGAGGAGCTAGGTAAGGGAGGTCAGTTGATCACCCTCTGAGGAGCTCCCCATGCTTGAATGACTCCAGAGTGCGAATGGTATCTGGGCTCAGGAGTCAAGGCTTGGAACTTTCCATGTTGCAAAATCAAAATCACTGGACAGATGACAGATTCAGGAGGGTCACAAGTAGCAGGGACTGTTAAAGGTCTTTTATGCTTCTTTTTTTTTTTTTCAGAGTCTTGCTCCATCACCAGGCTGGTGTGCAGTGGTGTGACTGTCCATGCAGCCCTGGCCCTCCAGCCCATGTGGTTTTGGCAGCGATAAGGGCTGTGGGTTAATGGTCCCCAAAATAAAAATGTACATGTGTATGGGAACGAAAGGGGTGCTAAGCTGTGGGGAGCGGTGGAAGGGAAGGGAGAGATAGGTCAGTACTAGGAATGCCAGAGGTGGGAGGCCGTTTCATAACATTTCTTGTTGATCAAAATGCCATCAACACCTTCTTTGCTCATCAGCAGGACTAGCGTACTGGGGGAACCCACCCCCAATATTTCAACGTAGGTTCTTTCTATAAGTGTCAGCCGGCTGAGAAATAAAGAGAGACAGTATAAAGAGAGGAATTTTACAGCTGGGCCGCCGGGGGTGGCATCACATATCGGTAGGACTGTGATACCCACCTGAGCCTCAAACCAGCAAGTTTTTATTAAGGGTTTCAAAAAGGGGAGGGGGTGTAAGAACAGGGAGTAGGTACAAAGATCACATGCTTCAAAGGGCGAAAAGCAGAACTACTAATAAGTGTCTAACAAAGATCACATGCTTCTGAGGGAAAGGACAAAGGGCAAAAGCAGAACTACCGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACCACTGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACTACAGATGAGGGTCTATGTTCAGCGGTGCACATACTGTCTTGATAAACACCTTAAACAACAGCAAACAGGGTTCGACAGCAGAGAACCGGTCTGACCACAAATTTACCAGGGCGGAGTTTTTCCCCACCCTAGTAAGCCTGAGGGTACTGCAGGAGACCAGGGCGTATCTCAGTCCTTATCTCAACTGCACAAGATAGACATTCCCAGAGCGGCTGTTTATAGACCTCCCCCCAGGAATGCATTCCTTTCCCAGGGTATTAATAATAATACTCCTTGCTAGGAAAAGAATTTAGTGATATCTTCCCTACTTGCATGTCCATTTATAGCCTCTCTCAAGAAGGAAAATATGGCTCTTTCTGCCCGACCCTGCAGGCAGTCAGACCTTATGGTTGTTTTCCCTTGTTCCCTAAAAATTGCTCTTATTCTGTTCTTTTTCAAGGTGCACTAATTTCATATTGTTCAAACACATGTCTTACAATCAATTTGTACAGTTAACACAATTATCACAGTGGTCCTGAAGTGACAAACATCCTCAGCTTACAAAGATAACAGGATTAAGAGATTAAAGTAAAGACAGGCATAAGAAATTATAAAAGTATTATTTGGGAACTGATAAATGTCCATATTAAAATGAAATCTTCACAATTTATGTTCCTCTGCCATGGCTCCAGCCAGTCCCTCCATTCAGGGTCCCTG
pathogenic
167,626
The chromosome 10, position 102837184 genetic variant in gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Deficiency_of_steroid_17-alpha-monooxygenase']
GCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTTCTGCAGCTTGAAGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGTGGAGTAGAAGAGCTGTGGCAACTCTAGGGCACAAGGAGGCCTTTTAAAGGGCTACCCTGATCTTCACCTTGACTTTGTGTTATCTCTTGCCTTGTGGAAAGATTCTCCTGGAGCCCAGCCAGGCCTGAGCTCATATCCAGAAGGGAGAGAGGCGGTGGGAGTGAAGGCCTCCTCAAGGGCTGGCTCAACTCCAGGGCAAACCTCCGGAGGAGGAGCTAGGTAAGGGAGGTCAGTTGATCACCCTCTGAGGAGCTCCCCATGCTTGAATGACTCCAGAGTGCGAATGGTATCTGGGCTCAGGAGTCAAGGCTTGGAACTTTCCATGTTGCAAAATCAAAATCACTGGACAGATGACAGATTCAGGAGGGTCACAAGTAGCAGGGACTGTTAAAGGTCTTTTATGCTTCTTTTTTTTTTTTTCAGAGTCTTGCTCCATCACCAGGCTGGTGTGCAGTGGTGTGACTGTCCATGCAGCCCTGGCCCTCCAGCCCATGTGGTTTTGGCAGCGATAAGGGCTGTGGGTTAATGGTCCCCAAAATAAAAATGTACATGTGTATGGGAACGAAAGGGGTGCTAAGCTGTGGGGAGCGGTGGAAGGGAAGGGAGAGATAGGTCAGTACTAGGAATGCCAGAGGTGGGAGGCCGTTTCATAACATTTCTTGTTGATCAAAATGCCATCAACACCTTCTTTGCTCATCAGCAGGACTAGCGTACTGGGGGAACCCACCCCCAATATTTCAACGTAGGTTCTTTCTATAAGTGTCAGCCGGCTGAGAAATAAAGAGAGACAGTATAAAGAGAGGAATTTTACAGCTGGGCCGCCGGGGGTGGCATCACATATCGGTAGGACTGTGATACCCACCTGAGCCTCAAACCAGCAAGTTTTTATTAAGGGTTTCAAAAAGGGGAGGGGGTGTAAGAACAGGGAGTAGGTACAAAGATCACATGCTTCAAAGGGCGAAAAGCAGAACTACTAATAAGTGTCTAACAAAGATCACATGCTTCTGAGGGAAAGGACAAAGGGCAAAAGCAGAACTACCGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACCACTGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACTACAGATGAGGGTCTATGTTCAGCGGTGCACATACTGTCTTGATAAACACCTTAAACAACAGCAAACAGGGTTCGACAGCAGAGAACCGGTCTGACCACAAATTTACCAGGGCGGAGTTTTTCCCCACCCTAGTAAGCCTGAGGGTACTGCAGGAGACCAGGGCGTATCTCAGTCCTTATCTCAACTGCACAAGATAGACATTCCCAGAGCGGCTGTTTATAGACCTCCCCCCAGGAATGCATTCCTTTCCCAGGGTATTAATAATAATACTCCTTGCTAGGAAAAGAATTTAGTGATATCTTCCCTACTTGCATGTCCATTTATAGCCTCTCTCAAGAAGGAAAATATGGCTCTTTCTGCCCGACCCTGCAGGCAGTCAGACCTTATGGTTGTTTTCCCTTGTTCCCTAAAAATTGCTCTTATTCTGTTCTTTTTCAAGGTGCACTAATTTCATATTGTTCAAACACATGTCTTACAATCAATTTGTACAGTTAACACAATTATCACAGTGGTCCTGAAGTGACAAACATCCTCAGCTTACAAAGATAACAGGATTAAGAGATTAAAGTAAAGACAGGCATAAGAAATTATAAAAGTATTATTTGGGAACTGATAAATGTCCATATTAAAATGAAATCTTCACAATTTATGTTCCTCTGCCATGGCTCCAGCCAGTCCCTCCATTCAGGGTCCCTGA
GCCAAGAAAAGGCTGCATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTCTGCAGCTTGAAGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGTGGAGTAGAAGAGCTGTGGCAACTCTAGGGCACAAGGAGGCCTTTTAAAGGGCTACCCTGATCTTCACCTTGACTTTGTGTTATCTCTTGCCTTGTGGAAAGATTCTCCTGGAGCCCAGCCAGGCCTGAGCTCATATCCAGAAGGGAGAGAGGCGGTGGGAGTGAAGGCCTCCTCAAGGGCTGGCTCAACTCCAGGGCAAACCTCCGGAGGAGGAGCTAGGTAAGGGAGGTCAGTTGATCACCCTCTGAGGAGCTCCCCATGCTTGAATGACTCCAGAGTGCGAATGGTATCTGGGCTCAGGAGTCAAGGCTTGGAACTTTCCATGTTGCAAAATCAAAATCACTGGACAGATGACAGATTCAGGAGGGTCACAAGTAGCAGGGACTGTTAAAGGTCTTTTATGCTTCTTTTTTTTTTTTTCAGAGTCTTGCTCCATCACCAGGCTGGTGTGCAGTGGTGTGACTGTCCATGCAGCCCTGGCCCTCCAGCCCATGTGGTTTTGGCAGCGATAAGGGCTGTGGGTTAATGGTCCCCAAAATAAAAATGTACATGTGTATGGGAACGAAAGGGGTGCTAAGCTGTGGGGAGCGGTGGAAGGGAAGGGAGAGATAGGTCAGTACTAGGAATGCCAGAGGTGGGAGGCCGTTTCATAACATTTCTTGTTGATCAAAATGCCATCAACACCTTCTTTGCTCATCAGCAGGACTAGCGTACTGGGGGAACCCACCCCCAATATTTCAACGTAGGTTCTTTCTATAAGTGTCAGCCGGCTGAGAAATAAAGAGAGACAGTATAAAGAGAGGAATTTTACAGCTGGGCCGCCGGGGGTGGCATCACATATCGGTAGGACTGTGATACCCACCTGAGCCTCAAACCAGCAAGTTTTTATTAAGGGTTTCAAAAAGGGGAGGGGGTGTAAGAACAGGGAGTAGGTACAAAGATCACATGCTTCAAAGGGCGAAAAGCAGAACTACTAATAAGTGTCTAACAAAGATCACATGCTTCTGAGGGAAAGGACAAAGGGCAAAAGCAGAACTACCGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACCACTGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACTACAGATGAGGGTCTATGTTCAGCGGTGCACATACTGTCTTGATAAACACCTTAAACAACAGCAAACAGGGTTCGACAGCAGAGAACCGGTCTGACCACAAATTTACCAGGGCGGAGTTTTTCCCCACCCTAGTAAGCCTGAGGGTACTGCAGGAGACCAGGGCGTATCTCAGTCCTTATCTCAACTGCACAAGATAGACATTCCCAGAGCGGCTGTTTATAGACCTCCCCCCAGGAATGCATTCCTTTCCCAGGGTATTAATAATAATACTCCTTGCTAGGAAAAGAATTTAGTGATATCTTCCCTACTTGCATGTCCATTTATAGCCTCTCTCAAGAAGGAAAATATGGCTCTTTCTGCCCGACCCTGCAGGCAGTCAGACCTTATGGTTGTTTTCCCTTGTTCCCTAAAAATTGCTCTTATTCTGTTCTTTTTCAAGGTGCACTAATTTCATATTGTTCAAACACATGTCTTACAATCAATTTGTACAGTTAACACAATTATCACAGTGGTCCTGAAGTGACAAACATCCTCAGCTTACAAAGATAACAGGATTAAGAGATTAAAGTAAAGACAGGCATAAGAAATTATAAAAGTATTATTTGGGAACTGATAAATGTCCATATTAAAATGAAATCTTCACAATTTATGTTCCTCTGCCATGGCTCCAGCCAGTCCCTCCATTCAGGGTCCCTGAN
pathogenic
167,627
Evaluate this variant at chromosome 10, position 102837199, gene CYP17A1 (cytochrome P450 family 17 subfamily A member 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['17-alpha-hydroxylase/17,20-lyase_deficiency,_combined_partial', 'Deficiency_of_steroid_17-alpha-monooxygenase']
CATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTTCTGCAGCTTGAAGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGTGGAGTAGAAGAGCTGTGGCAACTCTAGGGCACAAGGAGGCCTTTTAAAGGGCTACCCTGATCTTCACCTTGACTTTGTGTTATCTCTTGCCTTGTGGAAAGATTCTCCTGGAGCCCAGCCAGGCCTGAGCTCATATCCAGAAGGGAGAGAGGCGGTGGGAGTGAAGGCCTCCTCAAGGGCTGGCTCAACTCCAGGGCAAACCTCCGGAGGAGGAGCTAGGTAAGGGAGGTCAGTTGATCACCCTCTGAGGAGCTCCCCATGCTTGAATGACTCCAGAGTGCGAATGGTATCTGGGCTCAGGAGTCAAGGCTTGGAACTTTCCATGTTGCAAAATCAAAATCACTGGACAGATGACAGATTCAGGAGGGTCACAAGTAGCAGGGACTGTTAAAGGTCTTTTATGCTTCTTTTTTTTTTTTTCAGAGTCTTGCTCCATCACCAGGCTGGTGTGCAGTGGTGTGACTGTCCATGCAGCCCTGGCCCTCCAGCCCATGTGGTTTTGGCAGCGATAAGGGCTGTGGGTTAATGGTCCCCAAAATAAAAATGTACATGTGTATGGGAACGAAAGGGGTGCTAAGCTGTGGGGAGCGGTGGAAGGGAAGGGAGAGATAGGTCAGTACTAGGAATGCCAGAGGTGGGAGGCCGTTTCATAACATTTCTTGTTGATCAAAATGCCATCAACACCTTCTTTGCTCATCAGCAGGACTAGCGTACTGGGGGAACCCACCCCCAATATTTCAACGTAGGTTCTTTCTATAAGTGTCAGCCGGCTGAGAAATAAAGAGAGACAGTATAAAGAGAGGAATTTTACAGCTGGGCCGCCGGGGGTGGCATCACATATCGGTAGGACTGTGATACCCACCTGAGCCTCAAACCAGCAAGTTTTTATTAAGGGTTTCAAAAAGGGGAGGGGGTGTAAGAACAGGGAGTAGGTACAAAGATCACATGCTTCAAAGGGCGAAAAGCAGAACTACTAATAAGTGTCTAACAAAGATCACATGCTTCTGAGGGAAAGGACAAAGGGCAAAAGCAGAACTACCGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACCACTGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACTACAGATGAGGGTCTATGTTCAGCGGTGCACATACTGTCTTGATAAACACCTTAAACAACAGCAAACAGGGTTCGACAGCAGAGAACCGGTCTGACCACAAATTTACCAGGGCGGAGTTTTTCCCCACCCTAGTAAGCCTGAGGGTACTGCAGGAGACCAGGGCGTATCTCAGTCCTTATCTCAACTGCACAAGATAGACATTCCCAGAGCGGCTGTTTATAGACCTCCCCCCAGGAATGCATTCCTTTCCCAGGGTATTAATAATAATACTCCTTGCTAGGAAAAGAATTTAGTGATATCTTCCCTACTTGCATGTCCATTTATAGCCTCTCTCAAGAAGGAAAATATGGCTCTTTCTGCCCGACCCTGCAGGCAGTCAGACCTTATGGTTGTTTTCCCTTGTTCCCTAAAAATTGCTCTTATTCTGTTCTTTTTCAAGGTGCACTAATTTCATATTGTTCAAACACATGTCTTACAATCAATTTGTACAGTTAACACAATTATCACAGTGGTCCTGAAGTGACAAACATCCTCAGCTTACAAAGATAACAGGATTAAGAGATTAAAGTAAAGACAGGCATAAGAAATTATAAAAGTATTATTTGGGAACTGATAAATGTCCATATTAAAATGAAATCTTCACAATTTATGTTCCTCTGCCATGGCTCCAGCCAGTCCCTCCATTCAGGGTCCCTGACTTCCCGCAACATCT
CATTGCGCTCTAGTCCTAACCCTTACCCCTGCCCAACCCTCCTCTCCCTCCAGCAGCTCCTGTGGGATCCAGCCCCAGCCCCAGGGGCCAGCCTGGCACTCACTGATCTTCTCCAGCTTCTGATCGCCATCCTTGAACAGGGCAAAGGTGGCCATCGCCAGCCTTCGATGCAGCTGCCAGTGTGCGCCAGAGTCAGCGAAGGCGATACCCTTACGGTTGTTGGACGCGATGTCTAGAGTTGCCTTTAGAGAGCAGGCAAGGCTGTAGGAATCTCACACCATCCACCCCACTCTTGCCCTTACACCTCTGGTCCCTGCTTTCCTTCCTGGAGGAGAAGGCAGGTACCTGGCATGCTGACTCCCATGTGGGCACAGCCCCACTGCACTCCACCATGACTGCAAGGACTTGGTAGGACAGACCCTAAGGCCTCCTACTCCCAATTCCTTCAGAAATACAGTAGATCAAGGAGAAAGAAAGAACCCTTAATTAGAATGCAGCAGCATTGGGGTTCTTTTCGCTGACAGGGTGCCCTCTGGGCTTCTTTTTGCTCATCAGTTTCTGACCACAGGAAGGCAACTCTGGATGGGATAAACTCTCTAAACTATGCCTGTCCAGAGGGTAGGGAGCAGGTGAGCTTGTAGAGGCTGAGGACTGCACAGATCTCTGCTTTTCCCTGAGCCCTTAGCTGAGCTAAAGGCACAGCTCACCTCACTCAGGTTTACCCTTCCATTGCAAGCCTGCATACCCAGCCACAAGCCCACATTTGGAGAGTGCAGATGTTTTGTCTACCCAGTCTGGACTTGGGCCGAGCCGCCTCCTCCTAGAGGTGCCCCCCAAAGCAAAAGGGTCCAAAGCCTCCCTTTTCCATTTCCTGACCCTGAAGATCCACATGACTAGCCTTCTCCATCTTCTCTGCCCCCGGGAGGAAGCCAGCAGAGGTGGGAGCTAGGTAGTTGGTCAGCAGACCTGGCTGATTGGTCCAAGAAAAAATAAACCAACCCTTGGCTTGATCAAAGCTGAGAGGCTGGCAGGGCACAGTGGCTTACGCCTATAATCCTAGCACTTTGGGAGGCTAAGGTGGGAGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACACCATCTCTACTAAAAATACAAAAAATTAGCGGGCATGGTGGCATGCTCCTGTAGTCCCAGGTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGGCCACTGCACTCCAGGCTGGGCGACAGAGAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAATGCTGAGAGGCTGGGGGCCCTGCTGAGTGGGAGGCTCATCAGCAACCCTGAAATGTCATTGTAGAAAACTGCCCCTGTGAGCCTGAGTAGCTGGAAATAGCACCAGGAAAGCAGCAATCCCAGCCTGCAATAGCTAGGCTAATTCTCCCCAGCAGCTTTCATGGAGGACAGTAGTCACTGCCCCCATTTTCCATGAAAAGTAACATGAATCCTGGCTGTATAAGGGGCACTTACTGTGCTGGGTGCTAGGCTAAGTGCTGTACATGCACCTTCTCAGTCCATTAGAGAAGTCTAGGCTCAGAGAGAGGAGTGGAGTGAGGATTCCTTGACCCCTCAGACCACTGTGGTCCTCCCATCCCACCTCCTGGGCAGCCTGGTAGAGGAGACATTCCTTTAATTCTTCCTGCCTAATTTAGAGGCTGGGTGGGGGTCTGAAGGTTCACTCCCTTCACATCATCCCACTAGTCTACTTTGGGAAGAATTACAGGTTGTTGGAGCTGGAAGCCCCATTCTAGGCATGGTCTGAAGACCTGAACAATCCCAGGGGGTGGTGAAGGGGGCAGGGAGGAGATGGGCACCACTTACCATTTGAGGCCGCCCAGAGAAGTCCTTGCCCTTCTTAATAAGCACCTCCTTGGCCAGCTGGTGGTGGCCGACAATCACTGTAGTCTTGGTGCCCATACGAACCGAATAGATGGGGCCATATTTTTTCTGCAGCTTGAAGTTGTTATGCATATGGCCGTGTCTGGGGAGGAATGGCAGGCTGCCCACCAGGGGCAGGGACAGGAGGCTCTTGGGGTACTTGGCACCAGGGCACCTTCTCTTGGGCCAAAACAAATAAGCTAGGGTAAGCAGCAAGAGAGCCACGAGCTCCCACATGGTGGCTGGGTGCCGGCAGGCAAGATAGACAGCAGTGGAGTAGAAGAGCTGTGGCAACTCTAGGGCACAAGGAGGCCTTTTAAAGGGCTACCCTGATCTTCACCTTGACTTTGTGTTATCTCTTGCCTTGTGGAAAGATTCTCCTGGAGCCCAGCCAGGCCTGAGCTCATATCCAGAAGGGAGAGAGGCGGTGGGAGTGAAGGCCTCCTCAAGGGCTGGCTCAACTCCAGGGCAAACCTCCGGAGGAGGAGCTAGGTAAGGGAGGTCAGTTGATCACCCTCTGAGGAGCTCCCCATGCTTGAATGACTCCAGAGTGCGAATGGTATCTGGGCTCAGGAGTCAAGGCTTGGAACTTTCCATGTTGCAAAATCAAAATCACTGGACAGATGACAGATTCAGGAGGGTCACAAGTAGCAGGGACTGTTAAAGGTCTTTTATGCTTCTTTTTTTTTTTTTCAGAGTCTTGCTCCATCACCAGGCTGGTGTGCAGTGGTGTGACTGTCCATGCAGCCCTGGCCCTCCAGCCCATGTGGTTTTGGCAGCGATAAGGGCTGTGGGTTAATGGTCCCCAAAATAAAAATGTACATGTGTATGGGAACGAAAGGGGTGCTAAGCTGTGGGGAGCGGTGGAAGGGAAGGGAGAGATAGGTCAGTACTAGGAATGCCAGAGGTGGGAGGCCGTTTCATAACATTTCTTGTTGATCAAAATGCCATCAACACCTTCTTTGCTCATCAGCAGGACTAGCGTACTGGGGGAACCCACCCCCAATATTTCAACGTAGGTTCTTTCTATAAGTGTCAGCCGGCTGAGAAATAAAGAGAGACAGTATAAAGAGAGGAATTTTACAGCTGGGCCGCCGGGGGTGGCATCACATATCGGTAGGACTGTGATACCCACCTGAGCCTCAAACCAGCAAGTTTTTATTAAGGGTTTCAAAAAGGGGAGGGGGTGTAAGAACAGGGAGTAGGTACAAAGATCACATGCTTCAAAGGGCGAAAAGCAGAACTACTAATAAGTGTCTAACAAAGATCACATGCTTCTGAGGGAAAGGACAAAGGGCAAAAGCAGAACTACCGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACCACTGATAAGGGTCCAACAAAGATCACAAGGCAAAGGGCAAAAGCAGAACTACAGATGAGGGTCTATGTTCAGCGGTGCACATACTGTCTTGATAAACACCTTAAACAACAGCAAACAGGGTTCGACAGCAGAGAACCGGTCTGACCACAAATTTACCAGGGCGGAGTTTTTCCCCACCCTAGTAAGCCTGAGGGTACTGCAGGAGACCAGGGCGTATCTCAGTCCTTATCTCAACTGCACAAGATAGACATTCCCAGAGCGGCTGTTTATAGACCTCCCCCCAGGAATGCATTCCTTTCCCAGGGTATTAATAATAATACTCCTTGCTAGGAAAAGAATTTAGTGATATCTTCCCTACTTGCATGTCCATTTATAGCCTCTCTCAAGAAGGAAAATATGGCTCTTTCTGCCCGACCCTGCAGGCAGTCAGACCTTATGGTTGTTTTCCCTTGTTCCCTAAAAATTGCTCTTATTCTGTTCTTTTTCAAGGTGCACTAATTTCATATTGTTCAAACACATGTCTTACAATCAATTTGTACAGTTAACACAATTATCACAGTGGTCCTGAAGTGACAAACATCCTCAGCTTACAAAGATAACAGGATTAAGAGATTAAAGTAAAGACAGGCATAAGAAATTATAAAAGTATTATTTGGGAACTGATAAATGTCCATATTAAAATGAAATCTTCACAATTTATGTTCCTCTGCCATGGCTCCAGCCAGTCCCTCCATTCAGGGTCCCTGACTTCCCGCAACATCTNNN
pathogenic
167,628
Clinical classification of chromosome 10, position 103105781, gene NT5C2 (5'-nucleotidase, cytosolic II): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Hereditary_spastic_paraplegia_45']
TCATTAGCAAAGCCTGATGGAGTCCTTCTTTTCCAGCCTTGTCTACCACTGTAATAGCTTCGATAACTTTCTTTCCCTCTATCTTCAGTCTCTTCTTTTCATGGGAATTTTAATTTTATTAATTTATTTTTATTTTTTTGAGATAGGGTCTTGCTCTGTTACACAGGCTGTACTACAGTGGCACCAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCACTCCTCCTGCCTCAGTCTCCCATATAGCTGGGACCAAAGGCATGTACCACCATGCCCAGCTAATTTTTGATATTTGTAGAGATAGGGTTTCACTTTATTGTCCAGGCTGGTCTCCTAGGCTCAAGAAGTCTTCTTGCCTTGTCCTCCCAAAGTGCTGAGATTATAGGCGTAAGCCACTGTGCCTGGCCAGCTTTTCTGTTTAACTCTAAAGACTGCACAGTGCTAAGTGCTATTTGAATGATTCTGCATTTACTCATAAATGACTTATTTTTGAAACACTATTAAATGCATTAGCAAAGGAGCTATGTGGAAACTTTATTGGCTTATTTAAGGGAAGAGAGGAAGTCTGTGGATCTTGAGTTGGAAATTTGATCGTAGTACTAACTTATCCAACTGCTTCTCTTTTCTTCTCTGCCTACCCCTCCCTTATAATACAAAAATTCCTTTTTAGACATAATAGAACCCTGGTTCATCTTCATTGAGATTCTGAGTTATGATGACAATATCTGTGTATAAAATAGCTTAAGTTACTAGTACAACCTGTAATTACTTCATATTCTAAATCCTGTTTCCTGATATTTTCATGGATCCTGAACAAACCCCCTCATGAAAGAAACAGTGAAAGAAATGTGGATGTAATCACTGGCCTGCTCAGATGTGTCAAGATGGGTGTTTACTTCACACCGTTCTCATGTATACATGGAAATCTCTGAGCCTGTGTAATGTCAGTAATGCCAACTAAAGAGTCTTAGATGCTTCAATTCTAAGGGGCATCCTGTGACCTCAAATCTAAAGGAAGCTCTGGTACAATTACAGTTGGTTTGTGCCTCTTATCACAAAAAAAGACATTGTCTTTTTAAACATTTCAATGTAGCCTGGTGTTTTTCCTATTCTGCCATCAAGAATGAATAGTAAATGGAAAAGTTACATAAGAGACTGACACACATCCTATTCTGGTTTTACGAGCTGTTGTTCTGACCTTAATACAATGTCAATAGTAAATAAGGTGGCATAACAGTAGAGAAAATGTATAACAGTAAAGCTATAGCTACAGAAGTTGTCAAATTGTGGCATTATGATTTGAAAATATCGGGACATTTCACAAAAAAATAGTAGATACTAAATTTCATCTGCTGTTTACTAGGGTAAAAAGTTCAAATTAGTGACAATAGTGGAAATATTTTTATTTTGAAAATAAAGCTTATTCTTATTTGTTTAAAATATTATTAGCACATATTCACTTTAACCTTATGTTTACATTTTTTTAATGACACAATCAAATGTCAGGATTCAAAGTTTAGATTCATTAGAATCTAAAAAACGTATTGGCTATTAAAAATCTCTTAATCATTTAAATTGCTATAGTTTAAAATTTTTTCAAAGCATTTTTATATACATACCTCTTCTGAACAGCTACCTGAGAACTGTATTAGAAAGAAGAAAATAAAAATCTTAGAATTTCAAATAAGTCAAAACTACTAAAGTTCTTCTGGGCAAGTTTTAAGATTAGTTTTGTTGTATGCTGTATAATTGGAAGGCACTTAATTTAAACAAAATGTAATTGCTAACTATATGTCAGTTTGGGTTCCAACTGCCTAATAAATAACTGTTAACTAACCTTATGTAAGGGAATTTGCTCTTTAATGATGAAAAGTAATAGGGAAATATATTACATCTGGGGAGATGATGTCATCTTCACATTGTTTGACTTTAACATTAGAAAGAGGCTAAAGGTTCTCTGTACTCACCCCCTTATAAAGTTAAATCCATGTGCACAGACCAAGAGGTTTCCATAGGCATCGACTTTCAAAAGATTTCCATACAGTGTGTCAAAGACAAGTCCCCTATGTGAAAATGAAGACATTATTGATAATGCAAAGTAATACAGGCAATAATTTTATGTAGTAGTATTTAATCATCATGAACCAACCTCATTTAATTCAAGCTTTGTACCAACTCAAAGTATGTCCTAATATAGCTAAAGTGAGTAAAATCTTAAAAACTAATTCTAAAGCAACTAAAAAATATTGACTCCGTCCAGACAGAAAATCATAATTGTTTTCTGTAAGGAATAAGTGCTTAATCAAACAAGGTATAAAAAACATTCTTCTTACTACACAGCTGGTACCATTCTAAAACATAGTCTTTTTTCTTGGACAACTGAGAAGGCTTATATTTTTCTCCATTAGATGCTGTATGTGGGATATATATGATAGCATCTCAAACATCATTTTCTTAATCTTAAATATTCCCTATCAAATCCAGAAATGGAAACTGCCAAGCTTCTATCATGTTAAGTGTATTAGAGAAACACGTACCTATTTGCCAACAGCCCCAAATAGCACCACCTGTGATTACTGCCCATCAGTTTTAGTAATCTCCTTTTTTACCTGTAAGTGGGTCTTCCTCAGTTGCAATAAACTGAGCTTAATTCAGGAACACCAAGATATGGTGTATATGGAAAGTTCATGGTAATTTTAGAATCAACATCAACCAACCAAAAAAACAACAAAGAATTATTCAATGTTTTGGGGGGTTTTTTTGTTAAGGATAAATCTGGAATGTCTAATTTGAGGGGTAAGGAAAGTAGTCTTAATCTAGTCTTAATCCAAAAATATCTTTAAAAATTACCTGGTAGGGAATGTAGAATCATAAGCAAAGCTGAGCAACTCCTGGGGATAGCCAATAGAAACTAATCTCTCCACAGTAAGCTCAAAACCAAGGGACTCATACTCTGGGGACTTGTACACTGCACAAAGAGGAGGTTTTCATTAGTTAGCAGAAAGAACAGCCAATTAAAACAGAATGCAAATGAATGAATTTCTGCTCTTTCCCAGTTCTTCCCCCCTCCTAATTCTGCCATTTTTCTTCTTCCCCCTCAAACTCCATGTTCTGTATTGCCCCAAGTAATTAGAGAACTCAATTGTTAGTCTGTGGAAATAGGTCATATTATATAGCAGGAGCACAGCAACAAGCTGAATTATCAAATTATTCAGTATAGTTCCTTCATTCTCAGGAAACCTATTCCAAACTTTTTTTTCCTTTATTCTTTCATTCCCACAGTTTAAAAAAATGAATATGCATAGCTGTGATATTAATCGTGAGAATAAAAGTACACAGAAAACTAGGTAAGGGAGGTCTATGTATGCTGAAGGCTTCGGTGTTGTGCATAATTGTTGCAGAAATCCTTCAAAATGAACTTTTAAAATAATTTATTTTTGGAATTCCTGTTTGGCTTGGGTAATTGCTTTATATGCCTTCTCCAATCAACATATTTGTTCCACTTGTTAGATTAACTGTTTTCTTATCAGCTCTAACAATGTATGCCATCAAAATTGTATTTTGCAGGTTATTATTGTAAACCAACCATAAAAAGACATGTTTGTGACAATTAGGGAAATCTAAATATGAAATGGAGTTAGATATTGAAGAATTGGTCAGGCGTGGTGGCTCATGCCTGTAGTTCCAGCACTTTGAGAAGCCGAGGCGGGCAGATCACTTGAGGTGAAGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCCGTCTCTATTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTTGTCCCAGCTAGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAACTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTAAAAAAAAAAAATATGCAAATGTGTATATAAAACTAAATCTCTCCTTATCTGCCAAAGGAGCATTGAGTTTGTTACAGGTCAAATAACAGGGATTTCAGGCAATGAGGGGTTCTCTCTCTATTGTGTAAGTCTGAAATTTTCCATAATGAAAAAACT
TCATTAGCAAAGCCTGATGGAGTCCTTCTTTTCCAGCCTTGTCTACCACTGTAATAGCTTCGATAACTTTCTTTCCCTCTATCTTCAGTCTCTTCTTTTCATGGGAATTTTAATTTTATTAATTTATTTTTATTTTTTTGAGATAGGGTCTTGCTCTGTTACACAGGCTGTACTACAGTGGCACCAACACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCACTCCTCCTGCCTCAGTCTCCCATATAGCTGGGACCAAAGGCATGTACCACCATGCCCAGCTAATTTTTGATATTTGTAGAGATAGGGTTTCACTTTATTGTCCAGGCTGGTCTCCTAGGCTCAAGAAGTCTTCTTGCCTTGTCCTCCCAAAGTGCTGAGATTATAGGCGTAAGCCACTGTGCCTGGCCAGCTTTTCTGTTTAACTCTAAAGACTGCACAGTGCTAAGTGCTATTTGAATGATTCTGCATTTACTCATAAATGACTTATTTTTGAAACACTATTAAATGCATTAGCAAAGGAGCTATGTGGAAACTTTATTGGCTTATTTAAGGGAAGAGAGGAAGTCTGTGGATCTTGAGTTGGAAATTTGATCGTAGTACTAACTTATCCAACTGCTTCTCTTTTCTTCTCTGCCTACCCCTCCCTTATAATACAAAAATTCCTTTTTAGACATAATAGAACCCTGGTTCATCTTCATTGAGATTCTGAGTTATGATGACAATATCTGTGTATAAAATAGCTTAAGTTACTAGTACAACCTGTAATTACTTCATATTCTAAATCCTGTTTCCTGATATTTTCATGGATCCTGAACAAACCCCCTCATGAAAGAAACAGTGAAAGAAATGTGGATGTAATCACTGGCCTGCTCAGATGTGTCAAGATGGGTGTTTACTTCACACCGTTCTCATGTATACATGGAAATCTCTGAGCCTGTGTAATGTCAGTAATGCCAACTAAAGAGTCTTAGATGCTTCAATTCTAAGGGGCATCCTGTGACCTCAAATCTAAAGGAAGCTCTGGTACAATTACAGTTGGTTTGTGCCTCTTATCACAAAAAAAGACATTGTCTTTTTAAACATTTCAATGTAGCCTGGTGTTTTTCCTATTCTGCCATCAAGAATGAATAGTAAATGGAAAAGTTACATAAGAGACTGACACACATCCTATTCTGGTTTTACGAGCTGTTGTTCTGACCTTAATACAATGTCAATAGTAAATAAGGTGGCATAACAGTAGAGAAAATGTATAACAGTAAAGCTATAGCTACAGAAGTTGTCAAATTGTGGCATTATGATTTGAAAATATCGGGACATTTCACAAAAAAATAGTAGATACTAAATTTCATCTGCTGTTTACTAGGGTAAAAAGTTCAAATTAGTGACAATAGTGGAAATATTTTTATTTTGAAAATAAAGCTTATTCTTATTTGTTTAAAATATTATTAGCACATATTCACTTTAACCTTATGTTTACATTTTTTTAATGACACAATCAAATGTCAGGATTCAAAGTTTAGATTCATTAGAATCTAAAAAACGTATTGGCTATTAAAAATCTCTTAATCATTTAAATTGCTATAGTTTAAAATTTTTTCAAAGCATTTTTATATACATACCTCTTCTGAACAGCTACCTGAGAACTGTATTAGAAAGAAGAAAATAAAAATCTTAGAATTTCAAATAAGTCAAAACTACTAAAGTTCTTCTGGGCAAGTTTTAAGATTAGTTTTGTTGTATGCTGTATAATTGGAAGGCACTTAATTTAAACAAAATGTAATTGCTAACTATATGTCAGTTTGGGTTCCAACTGCCTAATAAATAACTGTTAACTAACCTTATGTAAGGGAATTTGCTCTTTAATGATGAAAAGTAATAGGGAAATATATTACATCTGGGGAGATGATGTCATCTTCACATTGTTTGACTTTAACATTAGAAAGAGGCTAAAGGTTCTCTGTACTCACCCCCTTATAAAGTTAAATCCATGTGCACAGACCAAGAGGTTTCCATAGGCATCGACTTTCAAAAGATTTCCATACAGTGTCAAAGACAAGTCCCCTATGTGAAAATGAAGACATTATTGATAATGCAAAGTAATACAGGCAATAATTTTATGTAGTAGTATTTAATCATCATGAACCAACCTCATTTAATTCAAGCTTTGTACCAACTCAAAGTATGTCCTAATATAGCTAAAGTGAGTAAAATCTTAAAAACTAATTCTAAAGCAACTAAAAAATATTGACTCCGTCCAGACAGAAAATCATAATTGTTTTCTGTAAGGAATAAGTGCTTAATCAAACAAGGTATAAAAAACATTCTTCTTACTACACAGCTGGTACCATTCTAAAACATAGTCTTTTTTCTTGGACAACTGAGAAGGCTTATATTTTTCTCCATTAGATGCTGTATGTGGGATATATATGATAGCATCTCAAACATCATTTTCTTAATCTTAAATATTCCCTATCAAATCCAGAAATGGAAACTGCCAAGCTTCTATCATGTTAAGTGTATTAGAGAAACACGTACCTATTTGCCAACAGCCCCAAATAGCACCACCTGTGATTACTGCCCATCAGTTTTAGTAATCTCCTTTTTTACCTGTAAGTGGGTCTTCCTCAGTTGCAATAAACTGAGCTTAATTCAGGAACACCAAGATATGGTGTATATGGAAAGTTCATGGTAATTTTAGAATCAACATCAACCAACCAAAAAAACAACAAAGAATTATTCAATGTTTTGGGGGGTTTTTTTGTTAAGGATAAATCTGGAATGTCTAATTTGAGGGGTAAGGAAAGTAGTCTTAATCTAGTCTTAATCCAAAAATATCTTTAAAAATTACCTGGTAGGGAATGTAGAATCATAAGCAAAGCTGAGCAACTCCTGGGGATAGCCAATAGAAACTAATCTCTCCACAGTAAGCTCAAAACCAAGGGACTCATACTCTGGGGACTTGTACACTGCACAAAGAGGAGGTTTTCATTAGTTAGCAGAAAGAACAGCCAATTAAAACAGAATGCAAATGAATGAATTTCTGCTCTTTCCCAGTTCTTCCCCCCTCCTAATTCTGCCATTTTTCTTCTTCCCCCTCAAACTCCATGTTCTGTATTGCCCCAAGTAATTAGAGAACTCAATTGTTAGTCTGTGGAAATAGGTCATATTATATAGCAGGAGCACAGCAACAAGCTGAATTATCAAATTATTCAGTATAGTTCCTTCATTCTCAGGAAACCTATTCCAAACTTTTTTTTCCTTTATTCTTTCATTCCCACAGTTTAAAAAAATGAATATGCATAGCTGTGATATTAATCGTGAGAATAAAAGTACACAGAAAACTAGGTAAGGGAGGTCTATGTATGCTGAAGGCTTCGGTGTTGTGCATAATTGTTGCAGAAATCCTTCAAAATGAACTTTTAAAATAATTTATTTTTGGAATTCCTGTTTGGCTTGGGTAATTGCTTTATATGCCTTCTCCAATCAACATATTTGTTCCACTTGTTAGATTAACTGTTTTCTTATCAGCTCTAACAATGTATGCCATCAAAATTGTATTTTGCAGGTTATTATTGTAAACCAACCATAAAAAGACATGTTTGTGACAATTAGGGAAATCTAAATATGAAATGGAGTTAGATATTGAAGAATTGGTCAGGCGTGGTGGCTCATGCCTGTAGTTCCAGCACTTTGAGAAGCCGAGGCGGGCAGATCACTTGAGGTGAAGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCCGTCTCTATTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGCATGCCTGTTGTCCCAGCTAGGAGGCTGAGGTGGGAGAATCGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAACTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTAAAAAAAAAAAATATGCAAATGTGTATATAAAACTAAATCTCTCCTTATCTGCCAAAGGAGCATTGAGTTTGTTACAGGTCAAATAACAGGGATTTCAGGCAATGAGGGGTTCTCTCTCTATTGTGTAAGTCTGAAATTTTCCATAATGAAAAAACTNN
pathogenic
167,699
Is chromosome 10, position 104033952, gene COL17A1 (collagen type XVII alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['COL17A1-related_disorder', 'Epidermolysis_bullosa,_junctional_4,_intermediate', 'Epithelial_recurrent_erosion_dystrophy']
AACTTTTATGTAACTGGCTTTCCTAGGCTGGGGCTTGAACTAAGTAAAGAAGCCAAGGAGTTCAGATCTAGATAGCAGAGAAGTAAGTCTCATTCTAAAACATTGCAACTACTGTTAGAGTCCACCCCATGAAGCTGTTTCAGATTGTGTATCTTTGACTGAATTCTATAAGTATATATTGTTCAGACTAAAACAAATGTTGCTAGCTAGGTTGGCTGTGCTGTCTCAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTGCCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAACACCAGCTTGGTTCTCCTTTTCCTCCCTGCTTTGACACTCTCCTTTTCTTCCTCACTGTGAATGGGATTGTTATGCAAATTCTGCTTTTGGCAGTGTCTGCCTGGAGTAATTGGCATTTGCCTGAATTTCTCAGGCTTGCTCTGGAACAAATCACCTGCTTCTCTAATGAGCGTCAGCCTTGCAGCCCTCCAGAACATGCAAAACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTGCAAAAGCAAGGAAACACTGGCCTTAGAGTCTTGATCACCTGGAAGCTTGGGACATCAAGTCATTTGTTCAGAGTAACACAGAGAGATAGTGATGGAGTTTGGACGTGTAAGAGGAAACAAAGTTCAGAATTTATAGAATTTGTCTAATTTTGAGCATCTCAAATGTTAATAACTGGAGATTTCTCATGAGACTGGTGTCTCTGGAGCAGACCCGTGGGAACCTATGCAGTGAGGCAGGTGCTGGGAAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGC
AACTTTTATGTAACTGGCTTTCCTAGGCTGGGGCTTGAACTAAGTAAAGAAGCCAAGGAGTTCAGATCTAGATAGCAGAGAAGTAAGTCTCATTCTAAAACATTGCAACTACTGTTAGAGTCCACCCCATGAAGCTGTTTCAGATTGTGTATCTTTGACTGAATTCTATAAGTATATATTGTTCAGACTAAAACAAATGTTGCTAGCTAGGTTGGCTGTGCTGTCTCAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTGCCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAACACCAGCTTGGTTCTCCTTTTCCTCCCTGCTTTGACACTCTCCTTTTCTTCCTCACTGTGAATGGGATTGTTATGCAAATTCTGCTTTTGGCAGTGTCTGCCTGGAGTAATTGGCATTTGCCTGAATTTCTCAGGCTTGCTCTGGAACAAATCACCTGCTTCTCTAATGAGCGTCAGCCTTGCAGCCCTCCAGAACATGCAAAACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTGCAAAAGCAAGGAAACACTGGCCTTAGAGTCTTGATCACCTGGAAGCTTGGGACATCAAGTCATTTGTTCAGAGTAACACAGAGAGATAGTGATGGAGTTTGGACGTGTAAGAGGAAACAAAGTTCAGAATTTATAGAATTTGTCTAATTTTGAGCATCTCAAATGTTAATAACTGGAGATTTCTCATGAGACTGGTGTCTCTGGAGCAGACCCGTGGGAACCTATGCAGTGAGGCAGGTGCTGGGAAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCNNNN
pathogenic
167,732
The mutation in gene COL17A1 (collagen type XVII alpha 1 chain) at chromosome 10, position 104034050—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Epidermolysis_bullosa,_junctional_4,_intermediate']
AACATTGCAACTACTGTTAGAGTCCACCCCATGAAGCTGTTTCAGATTGTGTATCTTTGACTGAATTCTATAAGTATATATTGTTCAGACTAAAACAAATGTTGCTAGCTAGGTTGGCTGTGCTGTCTCAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTGCCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAACACCAGCTTGGTTCTCCTTTTCCTCCCTGCTTTGACACTCTCCTTTTCTTCCTCACTGTGAATGGGATTGTTATGCAAATTCTGCTTTTGGCAGTGTCTGCCTGGAGTAATTGGCATTTGCCTGAATTTCTCAGGCTTGCTCTGGAACAAATCACCTGCTTCTCTAATGAGCGTCAGCCTTGCAGCCCTCCAGAACATGCAAAACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTGCAAAAGCAAGGAAACACTGGCCTTAGAGTCTTGATCACCTGGAAGCTTGGGACATCAAGTCATTTGTTCAGAGTAACACAGAGAGATAGTGATGGAGTTTGGACGTGTAAGAGGAAACAAAGTTCAGAATTTATAGAATTTGTCTAATTTTGAGCATCTCAAATGTTAATAACTGGAGATTTCTCATGAGACTGGTGTCTCTGGAGCAGACCCGTGGGAACCTATGCAGTGAGGCAGGTGCTGGGAAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGT
AACATTGCAACTACTGTTAGAGTCCACCCCATGAAGCTGTTTCAGATTGTGTATCTTTGACTGAATTCTATAAGTATATATTGTTCAGACTAAAACAAATGTTGCTAGCTAGGTTGGCTGTGCTGTCTCAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTGCCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAACACCAGCTTGGTTCTCCTTTTCCTCCCTGCTTTGACACTCTCCTTTTCTTCCTCACTGTGAATGGGATTGTTATGCAAATTCTGCTTTTGGCAGTGTCTGCCTGGAGTAATTGGCATTTGCCTGAATTTCTCAGGCTTGCTCTGGAACAAATCACCTGCTTCTCTAATGAGCGTCAGCCTTGCAGCCCTCCAGAACATGCAAAACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTGCAAAAGCAAGGAAACACTGGCCTTAGAGTCTTGATCACCTGGAAGCTTGGGACATCAAGTCATTTGTTCAGAGTAACACAGAGAGATAGTGATGGAGTTTGGACGTGTAAGAGGAAACAAAGTTCAGAATTTATAGAATTTGTCTAATTTTGAGCATCTCAAATGTTAATAACTGGAGATTTCTCATGAGACTGGTGTCTCTGGAGCAGACCCGTGGGAACCTATGCAGTGAGGCAGGTGCTGGGAAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTN
pathogenic
167,735
Is the genetic variant on chromosome 10, position 104034178, gene COL17A1 (collagen type XVII alpha 1 chain), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Epidermolysis_bullosa,_junctional_4,_intermediate', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type']
CAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTGCCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAACACCAGCTTGGTTCTCCTTTTCCTCCCTGCTTTGACACTCTCCTTTTCTTCCTCACTGTGAATGGGATTGTTATGCAAATTCTGCTTTTGGCAGTGTCTGCCTGGAGTAATTGGCATTTGCCTGAATTTCTCAGGCTTGCTCTGGAACAAATCACCTGCTTCTCTAATGAGCGTCAGCCTTGCAGCCCTCCAGAACATGCAAAACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTGCAAAAGCAAGGAAACACTGGCCTTAGAGTCTTGATCACCTGGAAGCTTGGGACATCAAGTCATTTGTTCAGAGTAACACAGAGAGATAGTGATGGAGTTTGGACGTGTAAGAGGAAACAAAGTTCAGAATTTATAGAATTTGTCTAATTTTGAGCATCTCAAATGTTAATAACTGGAGATTTCTCATGAGACTGGTGTCTCTGGAGCAGACCCGTGGGAACCTATGCAGTGAGGCAGGTGCTGGGAAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGT
CAGTAGGACATTGACAGACTCCAGCTTTCACCCTCTGGAGACCTTGGACCTAAGTGCCACATGCATTATGAGACCTGGTCCAGGAGCTGTCCTGCCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAACACCAGCTTGGTTCTCCTTTTCCTCCCTGCTTTGACACTCTCCTTTTCTTCCTCACTGTGAATGGGATTGTTATGCAAATTCTGCTTTTGGCAGTGTCTGCCTGGAGTAATTGGCATTTGCCTGAATTTCTCAGGCTTGCTCTGGAACAAATCACCTGCTTCTCTAATGAGCGTCAGCCTTGCAGCCCTCCAGAACATGCAAAACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTGCAAAAGCAAGGAAACACTGGCCTTAGAGTCTTGATCACCTGGAAGCTTGGGACATCAAGTCATTTGTTCAGAGTAACACAGAGAGATAGTGATGGAGTTTGGACGTGTAAGAGGAAACAAAGTTCAGAATTTATAGAATTTGTCTAATTTTGAGCATCTCAAATGTTAATAACTGGAGATTTCTCATGAGACTGGTGTCTCTGGAGCAGACCCGTGGGAACCTATGCAGTGAGGCAGGTGCTGGGAAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTN
pathogenic
167,738
Does the genetic variant at chromosome 10, position 104034272, impacting gene COL17A1 (collagen type XVII alpha 1 chain), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Epidermolysis_bullosa,_junctional_4,_intermediate', 'Epithelial_recurrent_erosion_dystrophy', 'Junctional_epidermolysis_bullosa']
CCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAACACCAGCTTGGTTCTCCTTTTCCTCCCTGCTTTGACACTCTCCTTTTCTTCCTCACTGTGAATGGGATTGTTATGCAAATTCTGCTTTTGGCAGTGTCTGCCTGGAGTAATTGGCATTTGCCTGAATTTCTCAGGCTTGCTCTGGAACAAATCACCTGCTTCTCTAATGAGCGTCAGCCTTGCAGCCCTCCAGAACATGCAAAACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTGCAAAAGCAAGGAAACACTGGCCTTAGAGTCTTGATCACCTGGAAGCTTGGGACATCAAGTCATTTGTTCAGAGTAACACAGAGAGATAGTGATGGAGTTTGGACGTGTAAGAGGAAACAAAGTTCAGAATTTATAGAATTTGTCTAATTTTGAGCATCTCAAATGTTAATAACTGGAGATTTCTCATGAGACTGGTGTCTCTGGAGCAGACCCGTGGGAACCTATGCAGTGAGGCAGGTGCTGGGAAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTGAGAGAGAGAGAGTTGTATGTAGACTCCACACGAGACAGTGCCTGAGACCCCCGTTTTGGCTTTCCTTGCCATGCTTC
CCATGGCTAGCTCACGGCTTGACAGCAATACTTCTTCTCCTTCTCCGCCCAGCATAGACTTGGTCACCTGAAAGTTAGAAGATCAGTAGGAAGTTAAAACATATCTTGTGGCCTGTGGGGATCTTGGCTTGGGCAATTATGGCAACCGTGACTACTGCAAAGATGGCTTCAAAGGTGAAATCTTTTGTAAGACTACATTTATTTAACTTGTTTGCCCCATTTCAACACCAGCTTGGTTCTCCTTTTCCTCCCTGCTTTGACACTCTCCTTTTCTTCCTCACTGTGAATGGGATTGTTATGCAAATTCTGCTTTTGGCAGTGTCTGCCTGGAGTAATTGGCATTTGCCTGAATTTCTCAGGCTTGCTCTGGAACAAATCACCTGCTTCTCTAATGAGCGTCAGCCTTGCAGCCCTCCAGAACATGCAAAACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTGCAAAAGCAAGGAAACACTGGCCTTAGAGTCTTGATCACCTGGAAGCTTGGGACATCAAGTCATTTGTTCAGAGTAACACAGAGAGATAGTGATGGAGTTTGGACGTGTAAGAGGAAACAAAGTTCAGAATTTATAGAATTTGTCTAATTTTGAGCATCTCAAATGTTAATAACTGGAGATTTCTCATGAGACTGGTGTCTCTGGAGCAGACCCGTGGGAACCTATGCAGTGAGGCAGGTGCTGGGAAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCGCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTGAGAGAGAGAGAGTTGTATGTAGACTCCACACGAGACAGTGCCTGAGACCCCCGTTTTGGCTTTCCTTGCCATGCTTCNNNNNNNN
pathogenic
167,740
Variant on chromosome 10, at position 104034700, affecting COL17A1 (collagen type XVII alpha 1 chain): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Epidermolysis_bullosa,_junctional_4,_intermediate']
ACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTGCAAAAGCAAGGAAACACTGGCCTTAGAGTCTTGATCACCTGGAAGCTTGGGACATCAAGTCATTTGTTCAGAGTAACACAGAGAGATAGTGATGGAGTTTGGACGTGTAAGAGGAAACAAAGTTCAGAATTTATAGAATTTGTCTAATTTTGAGCATCTCAAATGTTAATAACTGGAGATTTCTCATGAGACTGGTGTCTCTGGAGCAGACCCGTGGGAACCTATGCAGTGAGGCAGGTGCTGGGAAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTGAGAGAGAGAGAGTTGTATGTAGACTCCACACGAGACAGTGCCTGAGACCCCCGTTTTGGCTTTCCTTGCCATGCTTCTTGACCTGCTCCAGGCTCACAGGTTTGAACGGCTCTGAGCACTGCTCATTGCTGGGGTTGGTGCAGTCTGGCAGGTGGGGGTCAGTGGGGCAATCACAGGGAAGTTCACGCTGCGAGTCCTCATCCCAGTCATCCCAGGCCCTTCCCAACCACCCCTCCTGCAGACACTTACTCGACATGTAGCTGAGAATGCGACTACTCAGCTCTGCATAGTCCAAAGACAGGAGGGACCCATCTCCACTGGCTCCTGGTGGCCCTGGCGGACCCCGAGGGCCCATCAAGTACTGACGTAGGTACTGACGCACGTCATCCCCTGGAGAGGAGAGGATGCACTAGCAGGACCCACCCAGGCCATGGGGGTCGCAGCCATGATCCAGCCACAGCCTGGGCTCCCCTGCACAAACTGGCTCCTGCGTGACATTTGTGAG
ACGTGGAGCAGTCAACACTTACCTTTGTCTCCTTTTTCTCCCTTGTGTCCTCGAGGGCCAGGTGGCCCAGGATGACCTGGTGGCCCAGCAGGGCCCCTGTCACCTGGAAGGAAAAATGGGGCGTAACTAAGTAATACATGAGTCTGGGGACTGAGGGCACAGGTAGCCGGTGTGGCACCAGCACAGGAGCTGCTTTTCAGTACGAGGTGGGTGTTAACACAGGATCCAGGGACTGGCTCTCTGCCACCACTTACCTTTGGGTCCTGGAGTGCCCATCTCTCCTTTTTGCCCAGGGGGTCCTTGAATGGCTCCATAAGCTGCAAAAGCAAGGAAACACTGGCCTTAGAGTCTTGATCACCTGGAAGCTTGGGACATCAAGTCATTTGTTCAGAGTAACACAGAGAGATAGTGATGGAGTTTGGACGTGTAAGAGGAAACAAAGTTCAGAATTTATAGAATTTGTCTAATTTTGAGCATCTCAAATGTTAATAACTGGAGATTTCTCATGAGACTGGTGTCTCTGGAGCAGACCCGTGGGAACCTATGCAGTGAGGCAGGTGCTGGGAAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTGAGAGAGAGAGAGTTGTATGTAGACTCCACACGAGACAGTGCCTGAGACCCCCGTTTTGGCTTTCCTTGCCATGCTTCTTGACCTGCTCCAGGCTCACAGGTTTGAACGGCTCTGAGCACTGCTCATTGCTGGGGTTGGTGCAGTCTGGCAGGTGGGGGTCAGTGGGGCAATCACAGGGAAGTTCACGCTGCGAGTCCTCATCCCAGTCATCCCAGGCCCTTCCCAACCACCCCTCCTGCAGACACTTACTCGACATGTAGCTGAGAATGCGACTACTCAGCTCTGCATAGTCCAAAGACAGGAGGGACCCATCTCCACTGGCTCCTGGTGGCCCTGGCGGACCCCGAGGGCCCATCAAGTACTGACGTAGGTACTGACGCACGTCATCCCCTGGAGAGGAGAGGATGCACTAGCAGGACCCACCCAGGCCATGGGGGTCGCAGCCATGATCCAGCCACAGCCTGGGCTCCCCTGCACAAACTGGCTCCTGCGTGACATTTGTGA
pathogenic
167,744
The mutation impacting COL17A1 (collagen type XVII alpha 1 chain) on chromosome 10 at position 104035265: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['COL17A1-related_disorder', 'Epidermolysis_bullosa,_junctional_4,_intermediate']
AAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTGAGAGAGAGAGAGTTGTATGTAGACTCCACACGAGACAGTGCCTGAGACCCCCGTTTTGGCTTTCCTTGCCATGCTTCTTGACCTGCTCCAGGCTCACAGGTTTGAACGGCTCTGAGCACTGCTCATTGCTGGGGTTGGTGCAGTCTGGCAGGTGGGGGTCAGTGGGGCAATCACAGGGAAGTTCACGCTGCGAGTCCTCATCCCAGTCATCCCAGGCCCTTCCCAACCACCCCTCCTGCAGACACTTACTCGACATGTAGCTGAGAATGCGACTACTCAGCTCTGCATAGTCCAAAGACAGGAGGGACCCATCTCCACTGGCTCCTGGTGGCCCTGGCGGACCCCGAGGGCCCATCAAGTACTGACGTAGGTACTGACGCACGTCATCCCCTGGAGAGGAGAGGATGCACTAGCAGGACCCACCCAGGCCATGGGGGTCGCAGCCATGATCCAGCCACAGCCTGGGCTCCCCTGCACAAACTGGCTCCTGCGTGACATTTGTGAGTTCTGGGTCCGCAGGACCACGGTGTTCAGGGGGGACACCAGCAAGCTGCCAGGTTCCCAAAGGGACACCTGCCAGCTTGTCTGGCATGGGGGCTTGGGAGGACATTTCCTGCCCCCTTTCCAGCCGGTTTGCTGACTCAGCAAGCAGATCAGAGCAGTAAGTGGCTCTTTGTCCAAAGGACTCTGCCTCCCTCTTGCAGCCCTTCCAAGGCTCAGACGAGGACAAGGTTTGCATGACGAGTGAGGCCAGGAGAAAGCAAAGATAGTCCCACCCTCGATCCCCCCACAGGTGACTCACGCTGCAGCACAGCCAGAATGTCTTCAGAAGAGATGGAGGACGAGAACAAGCTGACACCGTACCCCGAAGCTGTCGGGAAGAAAACCTCAGGTTACCTGCTTAGCAGGTACTGAAGCAACACCCTCACTATTCCAGAATCTGAAAGGCCCGGTCACCGAGCTGTTTGTCTTTGGGGGAAGTGGATGAATGGAGTATTACGAGGCTATTTTGAAAGCATAACAAAGTCAAATACTGTTGTTGGGATTTTTTTTTTTTTTGTAAGAAAGGA
AAAGCAGTTGGATGCCCTTACTTTGGAAGAAGTCCATGAGGTCCGCAGTCACGTTGCTGTAGGCAGAGAAGACCTTGCTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTGAGAGAGAGAGAGTTGTATGTAGACTCCACACGAGACAGTGCCTGAGACCCCCGTTTTGGCTTTCCTTGCCATGCTTCTTGACCTGCTCCAGGCTCACAGGTTTGAACGGCTCTGAGCACTGCTCATTGCTGGGGTTGGTGCAGTCTGGCAGGTGGGGGTCAGTGGGGCAATCACAGGGAAGTTCACGCTGCGAGTCCTCATCCCAGTCATCCCAGGCCCTTCCCAACCACCCCTCCTGCAGACACTTACTCGACATGTAGCTGAGAATGCGACTACTCAGCTCTGCATAGTCCAAAGACAGGAGGGACCCATCTCCACTGGCTCCTGGTGGCCCTGGCGGACCCCGAGGGCCCATCAAGTACTGACGTAGGTACTGACGCACGTCATCCCCTGGAGAGGAGAGGATGCACTAGCAGGACCCACCCAGGCCATGGGGGTCGCAGCCATGATCCAGCCACAGCCTGGGCTCCCCTGCACAAACTGGCTCCTGCGTGACATTTGTGAGTTCTGGGTCCGCAGGACCACGGTGTTCAGGGGGGACACCAGCAAGCTGCCAGGTTCCCAAAGGGACACCTGCCAGCTTGTCTGGCATGGGGGCTTGGGAGGACATTTCCTGCCCCCTTTCCAGCCGGTTTGCTGACTCAGCAAGCAGATCAGAGCAGTAAGTGGCTCTTTGTCCAAAGGACTCTGCCTCCCTCTTGCAGCCCTTCCAAGGCTCAGACGAGGACAAGGTTTGCATGACGAGTGAGGCCAGGAGAAAGCAAAGATAGTCCCACCCTCGATCCCCCCACAGGTGACTCACGCTGCAGCACAGCCAGAATGTCTTCAGAAGAGATGGAGGACGAGAACAAGCTGACACCGTACCCCGAAGCTGTCGGGAAGAAAACCTCAGGTTACCTGCTTAGCAGGTACTGAAGCAACACCCTCACTATTCCAGAATCTGAAAGGCCCGGTCACCGAGCTGTTTGTCTTTGGGGGAAGTGGATGAATGGAGTATTACGAGGCTATTTTGAAAGCATAACAAAGTCAAATACTGTTGTTGGGATTTTTTTTTTTTTTGTAAGAAAGGANNNN
pathogenic
167,747
A genetic variant at chromosome 10, position 104035342, affecting gene COL17A1 (collagen type XVII alpha 1 chain)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Junctional_epidermolysis_bullosa']
CTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTGAGAGAGAGAGAGTTGTATGTAGACTCCACACGAGACAGTGCCTGAGACCCCCGTTTTGGCTTTCCTTGCCATGCTTCTTGACCTGCTCCAGGCTCACAGGTTTGAACGGCTCTGAGCACTGCTCATTGCTGGGGTTGGTGCAGTCTGGCAGGTGGGGGTCAGTGGGGCAATCACAGGGAAGTTCACGCTGCGAGTCCTCATCCCAGTCATCCCAGGCCCTTCCCAACCACCCCTCCTGCAGACACTTACTCGACATGTAGCTGAGAATGCGACTACTCAGCTCTGCATAGTCCAAAGACAGGAGGGACCCATCTCCACTGGCTCCTGGTGGCCCTGGCGGACCCCGAGGGCCCATCAAGTACTGACGTAGGTACTGACGCACGTCATCCCCTGGAGAGGAGAGGATGCACTAGCAGGACCCACCCAGGCCATGGGGGTCGCAGCCATGATCCAGCCACAGCCTGGGCTCCCCTGCACAAACTGGCTCCTGCGTGACATTTGTGAGTTCTGGGTCCGCAGGACCACGGTGTTCAGGGGGGACACCAGCAAGCTGCCAGGTTCCCAAAGGGACACCTGCCAGCTTGTCTGGCATGGGGGCTTGGGAGGACATTTCCTGCCCCCTTTCCAGCCGGTTTGCTGACTCAGCAAGCAGATCAGAGCAGTAAGTGGCTCTTTGTCCAAAGGACTCTGCCTCCCTCTTGCAGCCCTTCCAAGGCTCAGACGAGGACAAGGTTTGCATGACGAGTGAGGCCAGGAGAAAGCAAAGATAGTCCCACCCTCGATCCCCCCACAGGTGACTCACGCTGCAGCACAGCCAGAATGTCTTCAGAAGAGATGGAGGACGAGAACAAGCTGACACCGTACCCCGAAGCTGTCGGGAAGAAAACCTCAGGTTACCTGCTTAGCAGGTACTGAAGCAACACCCTCACTATTCCAGAATCTGAAAGGCCCGGTCACCGAGCTGTTTGTCTTTGGGGGAAGTGGATGAATGGAGTATTACGAGGCTATTTTGAAAGCATAACAAAGTCAAATACTGTTGTTGGGATTTTTTTTTTTTTTGTAAGAAAGGAAGTTTATTTTTGAGAACATGCTTTAGCCTAATGCCTGCCAGATGCTGCCAACCTTCATGCACAGGTGGGAAGAACCT
CTGATGCCGGGTGGCCCCTGTGGCCCAGGCTGGCCTGGTGGGCCCTGGACAGTGTAGGCCATCCCTTGCAGTAGGCCCTGACCTGTAAAACACCAGAGCTTGGGCACAGGAAGCAGGGATCTCCCAGTACCCTCTTCAGCAGGAGCACAGTGCCCTCCGAGTGTCAAACTCCCAAAGCAGTTGAACTAGATCAAGCCGCAGCAAGGGTGAAGCCCTCCAACTTCCTTTGTATTCCACTGTGTGACTGGCACAGGTCTCTTCCTGCTGTGGGCCGGCATCAAAAGCTTGTTGACTGCGTAACTGTGCCGTTAAGCTGCGCGGGGAAAGGACTCTTAGCCAACATCCTTCTCTCGGCCCCAGCAGAAAATCCAGCATGGTCATATGACTCATCTGGGACCCAGAACGAGCTAGGTGTTGGGAAAACAAAGTACAAAGCCCCCAGCGTGCTCTGTTCCCCACAGCTCGGGTCCCAGGACTGGGGCTCCTTAAGCTGAGTAGGCTGAGAGCTAGGCTGGGGCTGCCTGTCCCCTCCAGCCCCTGCCTGCTTGATTCTGTCTTCACAGCCTGGGGGTTCCACAAACAAGAAAGCCAGTCTGGAGATGCTCCCACGCTCCTTCCCCCCAGCACCAAGGCCTAAATGTCCCCACTTACGCTGCATGCTCTCTGACACCCTCACAGCCAGCTCATTGTAATCCAGATCTCCAGCAAAGTCAGCTCCCAATAGTCCGCCATTGCCAGCATACATGCCGCCTTCTGCTGCTGCCCCATAGCCTCCGCCTGGGCCGATGTCAGTGCCATAGGGACCCCTGTCTCCTGCAGCTTCACCAAAGGCACCGCCTGCACCCAGGGAGCCTGCACCACCTCCTCCTGTGCTCATGGAAGAGCTGTAGGAGCTGCCCCGCCTGACAGATGAGCTGTGTGAGGAGGAGCTGCTACCCCGACTGTGGGAGGCATCCGTGGACAGGAGGCGGCTGTCCCCAGGGGGTCCCTGCGGCCCAGGAGGGCCTGGGGGGCCAACAATGAAGCTGCGCACATCAGGACCTGCAGGGTGAGAAGCTGCATGAGTGGGAGCTCAGATCTCGGTGGAGAGAAAGACTTGGGAGTTAGGGAGTCTCTCCCAGGGTGTCAATGCCCCTGAGAGACCAGAAGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTGAGAGAGAGAGAGTTGTATGTAGACTCCACACGAGACAGTGCCTGAGACCCCCGTTTTGGCTTTCCTTGCCATGCTTCTTGACCTGCTCCAGGCTCACAGGTTTGAACGGCTCTGAGCACTGCTCATTGCTGGGGTTGGTGCAGTCTGGCAGGTGGGGGTCAGTGGGGCAATCACAGGGAAGTTCACGCTGCGAGTCCTCATCCCAGTCATCCCAGGCCCTTCCCAACCACCCCTCCTGCAGACACTTACTCGACATGTAGCTGAGAATGCGACTACTCAGCTCTGCATAGTCCAAAGACAGGAGGGACCCATCTCCACTGGCTCCTGGTGGCCCTGGCGGACCCCGAGGGCCCATCAAGTACTGACGTAGGTACTGACGCACGTCATCCCCTGGAGAGGAGAGGATGCACTAGCAGGACCCACCCAGGCCATGGGGGTCGCAGCCATGATCCAGCCACAGCCTGGGCTCCCCTGCACAAACTGGCTCCTGCGTGACATTTGTGAGTTCTGGGTCCGCAGGACCACGGTGTTCAGGGGGGACACCAGCAAGCTGCCAGGTTCCCAAAGGGACACCTGCCAGCTTGTCTGGCATGGGGGCTTGGGAGGACATTTCCTGCCCCCTTTCCAGCCGGTTTGCTGACTCAGCAAGCAGATCAGAGCAGTAAGTGGCTCTTTGTCCAAAGGACTCTGCCTCCCTCTTGCAGCCCTTCCAAGGCTCAGACGAGGACAAGGTTTGCATGACGAGTGAGGCCAGGAGAAAGCAAAGATAGTCCCACCCTCGATCCCCCCACAGGTGACTCACGCTGCAGCACAGCCAGAATGTCTTCAGAAGAGATGGAGGACGAGAACAAGCTGACACCGTACCCCGAAGCTGTCGGGAAGAAAACCTCAGGTTACCTGCTTAGCAGGTACTGAAGCAACACCCTCACTATTCCAGAATCTGAAAGGCCCGGTCACCGAGCTGTTTGTCTTTGGGGGAAGTGGATGAATGGAGTATTACGAGGCTATTTTGAAAGCATAACAAAGTCAAATACTGTTGTTGGGATTTTTTTTTTTTTTGTAAGAAAGGAAGTTTATTTTTGAGAACATGCTTTAGCCTAATGCCTGCCAGATGCTGCCAACCTTCATGCACAGGTGGGAAGAACC
pathogenic
167,750
Gene COL17A1 (collagen type XVII alpha 1 chain) variant at chromosome 10, position 104036489—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['COL17A1-related_disorder', 'Epidermolysis_bullosa,_junctional_4,_intermediate', 'Epithelial_recurrent_erosion_dystrophy', 'Junctional_epidermolysis_bullosa', 'Junctional_epidermolysis_bullosa,_non-Herlitz_type']
AGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTGAGAGAGAGAGAGTTGTATGTAGACTCCACACGAGACAGTGCCTGAGACCCCCGTTTTGGCTTTCCTTGCCATGCTTCTTGACCTGCTCCAGGCTCACAGGTTTGAACGGCTCTGAGCACTGCTCATTGCTGGGGTTGGTGCAGTCTGGCAGGTGGGGGTCAGTGGGGCAATCACAGGGAAGTTCACGCTGCGAGTCCTCATCCCAGTCATCCCAGGCCCTTCCCAACCACCCCTCCTGCAGACACTTACTCGACATGTAGCTGAGAATGCGACTACTCAGCTCTGCATAGTCCAAAGACAGGAGGGACCCATCTCCACTGGCTCCTGGTGGCCCTGGCGGACCCCGAGGGCCCATCAAGTACTGACGTAGGTACTGACGCACGTCATCCCCTGGAGAGGAGAGGATGCACTAGCAGGACCCACCCAGGCCATGGGGGTCGCAGCCATGATCCAGCCACAGCCTGGGCTCCCCTGCACAAACTGGCTCCTGCGTGACATTTGTGAGTTCTGGGTCCGCAGGACCACGGTGTTCAGGGGGGACACCAGCAAGCTGCCAGGTTCCCAAAGGGACACCTGCCAGCTTGTCTGGCATGGGGGCTTGGGAGGACATTTCCTGCCCCCTTTCCAGCCGGTTTGCTGACTCAGCAAGCAGATCAGAGCAGTAAGTGGCTCTTTGTCCAAAGGACTCTGCCTCCCTCTTGCAGCCCTTCCAAGGCTCAGACGAGGACAAGGTTTGCATGACGAGTGAGGCCAGGAGAAAGCAAAGATAGTCCCACCCTCGATCCCCCCACAGGTGACTCACGCTGCAGCACAGCCAGAATGTCTTCAGAAGAGATGGAGGACGAGAACAAGCTGACACCGTACCCCGAAGCTGTCGGGAAGAAAACCTCAGGTTACCTGCTTAGCAGGTACTGAAGCAACACCCTCACTATTCCAGAATCTGAAAGGCCCGGTCACCGAGCTGTTTGTCTTTGGGGGAAGTGGATGAATGGAGTATTACGAGGCTATTTTGAAAGCATAACAAAGTCAAATACTGTTGTTGGGATTTTTTTTTTTTTTGTAAGAAAGGAAGTTTATTTTTGAGAACATGCTTTAGCCTAATGCCTGCCAGATGCTGCCAACCTTCATGCACAGGTGGGAAGAACCTATAATTAGGAACACATTAGTCAATTGCCGGAAGGCTCACTCGGTGTCTCTCCAGCGTGGCCGCCCTGAATCTGGACAGACCCTTGTTGACACTGTATCCCAGTGGCCCGATTATTATGAATTCGGAATTAAAACTCATGTTCCAGAGAAGGGCAAAGCAAACAGCAAACGAGGAGATGAGGCTCTGGGAGCAAAAGCAGACCCACAGGAGGAAGGTGCCAGGTGCAGGGCGTGGGGAAGGGCTTACTCCGTAAGTAGCTCACAACGTGGCTTGCCAGCTCTGAGTAGTCGAAAGTCTCGCCTGTGATGGTGGTGACAGGTCCTGGGGGACCAGGTGGGCCTGGGGGACCCTGAACTCCGGATAGGTAAGATCTAATACTGTCACCTGCCGACCAAGGAACAAAGCAAAGTCAAGCCTGTCCCAAGAGGACATGTTCTCCCCACGGAGGTGACCTGAAGCACATGATAACATGCCTGCCCCGCCCCACACATGGGCCCAAGGCTGGGCCAGGAGGGAGCCTAGACTTCCCCTCACTGTCCTTCCCCTAAATTACAGATGGAGAAACTGAGGCAGAGGCCTGAGCTGGGTCAAGTGGCCCATGAGGGCTGTGGGCCAGCAAGACTCCAGCCAGCCACCCATTTGACAAATGAGCACATGCAAGGTGTGGTGTGAAAGCATGTGCGTGTAGGGGATGAGCACGTGCGCCAGCCTCCTCCCCAGGGTGTGGGCGAGGTGAGGCTGTGTCGGGGGCAGCTATGAGAAGGCTGGTGTTGGGGAGCTCATAGGCCTGTAGGCCTGGCTCTGCAGGGGGAAGACCTGGGCCTGGACACATAGACACACATACACACACACACACACACACACACACACACACACACACACACACACACACTCCCACTGCCCTACATCGTCCCATGTCTCTTAGCCTCATTTCTGTGATGATACCACAGCTCCCTTGCAAAGAGACTGTATCTCCATGTTCTTGTCCCCACGGCTTGCGGCGGCCAGCTACTCACTCTGCATGTACTCAGAGATGTACTGCTGAATCTCCTGGCCAGAGCTGCTGATAGAGCCCGGAGGCCCAGGGGGCCCAGGGGGCCCTGGCGGGCCTGACACGTACATGGTACTTGATGATCCCCCTGCAGCA
AGTGAACTTCAGGGTTCTTGTACCCGAGTGGGAGAATTTTGGTGTGGAAGGAAACCGGGCTTACCCCACCAGTGGCTCTCGTGTGGCCTTCCTGTCCCTTTAAGTGCCTCCCTGCCCCACTTACAGGGAAAAGCAAGGCCTGCGGGGTGCCTGGTGGGGCATCACCGTCGGGGCACCTACTTGTGAGGTAGCTGATCAGCTCGCTCCGGAAGCTGTCGCTGTTTTCAGCTGCATAGGTTGCCAGGGCTCCTGAGACACCCGGGGGCCCTCGAGGCCCTGGGGGACCAGGAGGTCCTGGAGGGCCTGGGATGAATGACAAGCCGGCAGCTGGGCAGAAGGAAGAGAAAGAAAGGTCGGGGTAGTGCTGCGGAGGAAGCTGAATTCCCAGCCTGTGCTCGGGGCGCTGTGGGCCCCACCTGAAAGGAGGGGATGAGGCTGGGCCTCCCGGGTGATGGGAGGAGAGAAAAGCAGGAGGCCAGAGCCTGCTGTTTCCTGACATCATCCAGGAATGGCTGTTCCCGTCAGGCTCTCCCACTCCCAATTCTGAGCCTCATTCAACTCAGCCCTCCAGTCACTGAGAGGTGGAGCCCCAGGTCGGCCCTAATCACACACCGGGCTGCGCCTGGGAAAGCCATCTCTCCCCACCTCTGTCCCTGCCACGGCTGAAGGCCCCTTGCCAGCACATGTGGCGCTCTCCAGGGCCCTGCACCCAGCACTGTACAGGCTCCAGGAGCACTTAGACTGCCCTTGCTAAAGCCCATGGGAGCCCCCAAGGCCCGGCTGCATCCCCTGCCCTCCCCATCCCACTCCACAGTGCCCTACTATGTAAGTAAGACGAGAGGTCCTCCACGCTGATGCTGGACCACACATTGCCTGGGATCCCTGGTGGACCCGGGGGACCTGGGGGTCCAACGATGCCTCTGAATTCAGACCCTGAGACACCAAGGGAGGGCACGGAGTCAGTCCTGGCCTGGGCCAAGGGACTCTGCTTCCTCCCCAACCAGTTGGACAGATGTCCCCTGCTGGGCCTTACCTCGCAGCAAGGAGAGGAGCTCCTCATAGGAGGTTCCCGGCAAGCCAGGGGGCCCCGGGGGACCAGGAAGCCCAATGCTGATCCCAGAACCTAGGGAGGTGATGGATTCAGATCAGGCAGGGGGAGGCAGATGGAAACACCTGTCAGAGAGGAGGTCGGATACAGAAGAGGTTTGGACAGAAGTGGGGTCCAAGAAAGAAAAGAGATGGTGGCAGGAAGAGAGGCAGAGAGGAGGAGCCCAAAGGAGGAACGGAGGGGCCCACGGGGCCGGAGAAGCAGGTCCAGTGTGCCTGTGTGCTTCATTCTGTGTGTGTGTGTGTATGAGTATGTGTGTATGGGAGTGAGTGTGTGTGTGTATGGGAGTGTATCGGAGTGTGCGTATGGGAGTGTATGGGAGTGTGCGTGAGTACTGGAGTGTATGGGAGCGTGTGTATGGGAGTGTGTATGAGTGTGTGTGTATGGGAGTGTATGGGAGTGTGAGTACAGGAGTATGGGAGTGTGTTTATGGGAATGCGTGTGTGTATGCATATGTGAGTGTGTATGGGTGTGTCTGAGTATGGAAGTGTGTGTATAGGAGTGTGTGTATGGGAGTATGTGTATGGGAGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGAAGTGAGTGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGTGTGTGAGAGAGAGAGAGTTGTATGTAGACTCCACACGAGACAGTGCCTGAGACCCCCGTTTTGGCTTTCCTTGCCATGCTTCTTGACCTGCTCCAGGCTCACAGGTTTGAACGGCTCTGAGCACTGCTCATTGCTGGGGTTGGTGCAGTCTGGCAGGTGGGGGTCAGTGGGGCAATCACAGGGAAGTTCACGCTGCGAGTCCTCATCCCAGTCATCCCAGGCCCTTCCCAACCACCCCTCCTGCAGACACTTCTCGACATGTAGCTGAGAATGCGACTACTCAGCTCTGCATAGTCCAAAGACAGGAGGGACCCATCTCCACTGGCTCCTGGTGGCCCTGGCGGACCCCGAGGGCCCATCAAGTACTGACGTAGGTACTGACGCACGTCATCCCCTGGAGAGGAGAGGATGCACTAGCAGGACCCACCCAGGCCATGGGGGTCGCAGCCATGATCCAGCCACAGCCTGGGCTCCCCTGCACAAACTGGCTCCTGCGTGACATTTGTGAGTTCTGGGTCCGCAGGACCACGGTGTTCAGGGGGGACACCAGCAAGCTGCCAGGTTCCCAAAGGGACACCTGCCAGCTTGTCTGGCATGGGGGCTTGGGAGGACATTTCCTGCCCCCTTTCCAGCCGGTTTGCTGACTCAGCAAGCAGATCAGAGCAGTAAGTGGCTCTTTGTCCAAAGGACTCTGCCTCCCTCTTGCAGCCCTTCCAAGGCTCAGACGAGGACAAGGTTTGCATGACGAGTGAGGCCAGGAGAAAGCAAAGATAGTCCCACCCTCGATCCCCCCACAGGTGACTCACGCTGCAGCACAGCCAGAATGTCTTCAGAAGAGATGGAGGACGAGAACAAGCTGACACCGTACCCCGAAGCTGTCGGGAAGAAAACCTCAGGTTACCTGCTTAGCAGGTACTGAAGCAACACCCTCACTATTCCAGAATCTGAAAGGCCCGGTCACCGAGCTGTTTGTCTTTGGGGGAAGTGGATGAATGGAGTATTACGAGGCTATTTTGAAAGCATAACAAAGTCAAATACTGTTGTTGGGATTTTTTTTTTTTTTGTAAGAAAGGAAGTTTATTTTTGAGAACATGCTTTAGCCTAATGCCTGCCAGATGCTGCCAACCTTCATGCACAGGTGGGAAGAACCTATAATTAGGAACACATTAGTCAATTGCCGGAAGGCTCACTCGGTGTCTCTCCAGCGTGGCCGCCCTGAATCTGGACAGACCCTTGTTGACACTGTATCCCAGTGGCCCGATTATTATGAATTCGGAATTAAAACTCATGTTCCAGAGAAGGGCAAAGCAAACAGCAAACGAGGAGATGAGGCTCTGGGAGCAAAAGCAGACCCACAGGAGGAAGGTGCCAGGTGCAGGGCGTGGGGAAGGGCTTACTCCGTAAGTAGCTCACAACGTGGCTTGCCAGCTCTGAGTAGTCGAAAGTCTCGCCTGTGATGGTGGTGACAGGTCCTGGGGGACCAGGTGGGCCTGGGGGACCCTGAACTCCGGATAGGTAAGATCTAATACTGTCACCTGCCGACCAAGGAACAAAGCAAAGTCAAGCCTGTCCCAAGAGGACATGTTCTCCCCACGGAGGTGACCTGAAGCACATGATAACATGCCTGCCCCGCCCCACACATGGGCCCAAGGCTGGGCCAGGAGGGAGCCTAGACTTCCCCTCACTGTCCTTCCCCTAAATTACAGATGGAGAAACTGAGGCAGAGGCCTGAGCTGGGTCAAGTGGCCCATGAGGGCTGTGGGCCAGCAAGACTCCAGCCAGCCACCCATTTGACAAATGAGCACATGCAAGGTGTGGTGTGAAAGCATGTGCGTGTAGGGGATGAGCACGTGCGCCAGCCTCCTCCCCAGGGTGTGGGCGAGGTGAGGCTGTGTCGGGGGCAGCTATGAGAAGGCTGGTGTTGGGGAGCTCATAGGCCTGTAGGCCTGGCTCTGCAGGGGGAAGACCTGGGCCTGGACACATAGACACACATACACACACACACACACACACACACACACACACACACACACACACACACACTCCCACTGCCCTACATCGTCCCATGTCTCTTAGCCTCATTTCTGTGATGATACCACAGCTCCCTTGCAAAGAGACTGTATCTCCATGTTCTTGTCCCCACGGCTTGCGGCGGCCAGCTACTCACTCTGCATGTACTCAGAGATGTACTGCTGAATCTCCTGGCCAGAGCTGCTGATAGAGCCCGGAGGCCCAGGGGGCCCAGGGGGCCCTGGCGGGCCTGACACGTACATGGTACTTGATGATCCCCCTGCAGCAN
pathogenic
167,753
Gene COL17A1 (collagen type XVII alpha 1 chain) variant at chromosome position 104043511 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
CAAAGGTCTCCAAGATACTCACCTGGTGGCCCGCGTGGGCCGGGTGGGCCTGGGGGACCTTGTAAATTAAGAACTTCTATAGAGAGAAGAAAATAGAAATGAGCAAAAGCTGTCACGAGGCTGCTCTCTGCCACACTTCTCACCTCTCACTGGATCTGCAGTTCCAGGCACTCCAGGCTACCCTCACAGCCCAGACACCAGGCCCTGTGTCATGGCACAAGAGCCTGCAGCACCTCATCTGCTAAGGGTGCCCCTCACTCAGAGGCAGGGCAGGACCATAGTCAAGCTCCCTGACAGCTGATAAGAGCATGTGGAATGATGGGGATACATTGGATTTCGGTGTCAGAAAGTCTGAGTTCAAACCCCTGCTCCCACACGTCTAGCTGGTGACTTTGGGCAAGTTCTCAACCTCTTTCAGCCTCAGTTTCCTCCTCTGTAAACCAAGGTCAAAAAGATCTACATCACGGGGGTGTTGGGAAGACTCGGTGAAACACTGAAGACCAAGCTCCTAACACAGTGATAGCTCAGAGTGAGCGCTGGACCGGGTGGGCTGAAGCCTCTGCTGTTCTGCACTCCAGATGTCCAGGTGGGAGGCCCGGCAGTCTCCACCTGGGCTCCTTAAAGGACCCGGGAGTGAGTCCTCTCAGCCTGGGCCTGCAGCCGAGAACCCACAGACGGTTGTCATTGCTCTCTGGGTCAGCTGTACACTCCTGCCAGATACTCATCTTCAAGGCCAAGTCTGCCCCTGGTCCTCTTGTAATCCCAGAACTTCTCTGACAGCTGCCCCAAGCCCCAGGGAATCACCTTGCAAGACCCCGGTGAAGAGCCCTGGCCCTGTCCTCCTTTTCCAAAACACACCTTTCACGTCATCTAGAACAGAGAGGCCCATGTCCACCCTGAGAGGAAAGTCCTCCCGACTGGGCCCATCGCTTTGCATTCTTGCAGGGTGTGACATACCTTGATGTCCTGGGAGACCAGCTGGGCCGGCAGGGCCTGGAAACGGGGTTGAGGAAGAAAAGGCTAAATCATGCATGTAGGGTCATAGGAAGAACTAAAGGCATAATTCCTCCCAAGGCATGGAACAGAGACCCAAAGAGGCCACCTTGCTTATTTGAGAGCAATAAGCAATTCGAGATCAGCCCTGCGGTCCAGTTGCGTGAGAACATCTCTGACAGGCACCGGGACCCCGGGGCAGGCGGGACTGCCCCCTCTGCTGCTGTCCTGTAATGGTTAGGGACTTCTACATGCCTCTATGTACTCCTTCTCACTGGAGCTTGTCAGGAGGGAAGGCTGGTACATTCTGGCCTTGGTTGTGGTAAGTTGTGTACTTCATTTGTACATAAAAATTTAAAATAATTAAAAACACATATAACAAAATAACAGGCACTTTGGAAAGGTAGGAAACAAATTGTCCATAACTCTTCAATGTGTGGGCATTTTATTTTCTTCCAGCATTTTTTCTTTTTTGCATCTTGTATTAATACAGTTGAAACCACAGAGCAGGCATTAGTGAGTGTCCTGCTCTTTCAATAAACGTTTTATCTCCTAACAACTTTGTTCAGAAGTTTTCATATTTTTGTCACCATCCCATGTGGAGATATTTTCTTCAAATAGATACCTAGCATTTTTGTTGCCCTGGATGCAGAATATCAAATTGTTTTCCAGGAGGAAACAAAGGGCTCAAGGACTGAGTCTTCTGATTGGCCACAGGCTCTGGAGGTAGACTGATCTGGGCCAAATCCTTTGTCCTGCTGCTTATTGGCCGTGGGACCTTGGGCAAGTCATTTACCCACTCCAAGCCTCAGCCTCCCCTTCTCTAAATGCTGAGAGCACATTCACCTCCTATGCTGTGAAGTAGGATAACTGATCTACCTCATTGTCTGAGAATGCAAGAGTTTGCTTTTCTCAGGCCAAACTCCTTATTCTCTTTACCAGGTTCAGTTCCTGCCCTGGGTTTCAGGATCTGAAGAAATATGGCTAGAGTCACTACCGCCAAGACCTATTGCTGATTTGGGGCAAAGCAAGAAAATAGACTGACCTGGGGCACCTGGAGGTCCTGGGGGTCCCATGGCTCCAGGAGGTCCTGGGGGGCCTGGGACAGTGAGCATCGATGACCCCTCTGAAAACAGAAGGCACATGGAACATTGAGCCCTACTTTTCTCACTCAGAGGCGCTGGGACCCAAGCCAGGTTGTGGTGGGCAGCCTGGCATTTCTTCTTCTCATCGCTGCTAAATTTCCCTCCTCCCCCGCTACTGATCCAAAAAACTCCCAGCCACATCCTGCCCAGAACGCTGCAGAGTCAAGGTAGGTGCCCAGTATAAGAAAGACACAGAAAGGAGGGTCCCTCTAGGACCTGCCTACCCGAAGTCACGATCTTGCCTGGAGCTCCTGGTTCACCTAGGAAGAGAGGAAAAGGCTGAGAGTGGTTGTTCTGAGGATCAATTAGTGGCTCAATAAGCCATTTTCAAGGCTTCTGATTGCATTTGGGACCCACTTCTGGGCCTCTCACCATCAGGCTAAAGGCATTTTAATGAACTGAAGGAAGGCAAGCAGGATGCATTAAGCCCCAATCTTTCAGCCAGAGTCCCTGGAGGCCAGAGCATCCGTCTTCATTCAGAGAAGTGGCTTCACTTGAGGATGTGGAAAGCTTGCCTTTCAGTGAGCCCAGAATGGGGCTGACTGGAGAGTCCTTCATGCTCCCACATTCCACCACCTCTGCCTGGGAATCGCCTTAGGTGGGAAAATTACTCAAAGGTCAAAGGACAGAGGCGATGAGCCCGCCAGGTAGAGCGGGATTCCTAGAGTGCTCTGTGGGACAGTTGTAGGGGCTGTGCAGGATTAAAGGGGGGCTCTGCAGTGGGTAAGTCTAAGAAGGTCTGAGTTATATAAAGGTTAACAAGATCTCTTTTCTGCCTTGTGTCTCAGAGCATTGAAAATACAAGTGTGCGTGGAGAACTTTCGAGAAGAGGACATTCCCAAACGTATCAACTGGATGCAGTGCTGAGAACTGACAATCCACGGACTCACTTGGGGAAACCATTCTTTAGGGGCCCCTTTTTTCATTTCTCAAGTTCTGTTAGCAATTCAGTCATTCACACAATGAAAGGAGACTATTGCTCTCTCCCCTAAAGGAAAGCAGAGGGATGGTCTCTGCTCACCATCCTTCAGCCAGGGCTCATGAACAAGACGGGAGAAGCACTTGAGTTTGTTTTGTTGGGATGCAATCCAACGTTCGGTAAAATGGCCCCTCTTGTGCATGTTGTCCAGGCAGGGTCTGAACTCCCCCTTGGACTGGAAGTCACGGGCCCTCAAAAAGGGAAGGTTTCTGTTATTCTTGGGAATTCCAAAACCTATGAGACTCTTACAAAAGGTACCATCCATTCGTGAACATATCCACGGACCTAGTGTGGTCTGCCTGGGACCTATAAACTCAGTTATCATTATTTTGGAATTACATTTAGTTAGCCCTAAAGAACTCCTTGGCCCAATCAGTCATTGGAAATGATTTCTGGAAAGTGGTTATTTTAGGGTCCCACCAAGAGTGACAGTGACTGCTCATGACAGAGCACAGCTCCATAGAATGTCAAAGTTCAGGAGCGTGTTGGAATCAAAGGAACAGAAGGACAAAGACCATCCCTGAGCACTGTGGGTCCCTGAACTTGCTCGGGGTTGAGGTCTGATAGGCAGAACTGGACAAGAGGGTCACTGTGTGCATGGGCATCACCACATTGCCCCAGTCAGACCCCCGAGGATGAGCTCCCCTCTGAGTACCCGACTTGCCCTCTCAGTAGCATCTTAACACTCCTCTCTGCCTGTACTAAAGCCTCCTCTCAGGAAGGGTCTGATGTAGCCATTCACACCAAGGCTGATATGAATGATAAGGGCAAAGGTAGCTCCTGCCCCAGGGGAAAAGACTTGTTAGGAGGGGACCAAGCCTACATACCAGGGGGATGAAGCACTAATGGGGGCATTTAGAGGCAAAACAGGGCACAGAAAGGCTTTGGGGAGGGCAGTGCCCTTCTAGAACCTCCTGTAACAGTGGCCTGGAGACATCCAAGTATGAAAGCAAGGCTCAGGTTTGTGGGGTGGGGAGGT
CAAAGGTCTCCAAGATACTCACCTGGTGGCCCGCGTGGGCCGGGTGGGCCTGGGGGACCTTGTAAATTAAGAACTTCTATAGAGAGAAGAAAATAGAAATGAGCAAAAGCTGTCACGAGGCTGCTCTCTGCCACACTTCTCACCTCTCACTGGATCTGCAGTTCCAGGCACTCCAGGCTACCCTCACAGCCCAGACACCAGGCCCTGTGTCATGGCACAAGAGCCTGCAGCACCTCATCTGCTAAGGGTGCCCCTCACTCAGAGGCAGGGCAGGACCATAGTCAAGCTCCCTGACAGCTGATAAGAGCATGTGGAATGATGGGGATACATTGGATTTCGGTGTCAGAAAGTCTGAGTTCAAACCCCTGCTCCCACACGTCTAGCTGGTGACTTTGGGCAAGTTCTCAACCTCTTTCAGCCTCAGTTTCCTCCTCTGTAAACCAAGGTCAAAAAGATCTACATCACGGGGGTGTTGGGAAGACTCGGTGAAACACTGAAGACCAAGCTCCTAACACAGTGATAGCTCAGAGTGAGCGCTGGACCGGGTGGGCTGAAGCCTCTGCTGTTCTGCACTCCAGATGTCCAGGTGGGAGGCCCGGCAGTCTCCACCTGGGCTCCTTAAAGGACCCGGGAGTGAGTCCTCTCAGCCTGGGCCTGCAGCCGAGAACCCACAGACGGTTGTCATTGCTCTCTGGGTCAGCTGTACACTCCTGCCAGATACTCATCTTCAAGGCCAAGTCTGCCCCTGGTCCTCTTGTAATCCCAGAACTTCTCTGACAGCTGCCCCAAGCCCCAGGGAATCACCTTGCAAGACCCCGGTGAAGAGCCCTGGCCCTGTCCTCCTTTTCCAAAACACACCTTTCACGTCATCTAGAACAGAGAGGCCCATGTCCACCCTGAGAGGAAAGTCCTCCCGACTGGGCCCATCGCTTTGCATTCTTGCAGGGTGTGACATACCTTGATGTCCTGGGAGACCAGCTGGGCCGGCAGGGCCTGGAAACGGGGTTGAGGAAGAAAAGGCTAAATCATGCATGTAGGGTCATAGGAAGAACTAAAGGCATAATTCCTCCCAAGGCATGGAACAGAGACCCAAAGAGGCCACCTTGCTTATTTGAGAGCAATAAGCAATTCGAGATCAGCCCTGCGGTCCAGTTGCGTGAGAACATCTCTGACAGGCACCGGGACCCCGGGGCAGGCGGGACTGCCCCCTCTGCTGCTGTCCTGTAATGGTTAGGGACTTCTACATGCCTCTATGTACTCCTTCTCACTGGAGCTTGTCAGGAGGGAAGGCTGGTACATTCTGGCCTTGGTTGTGGTAAGTTGTGTACTTCATTTGTACATAAAAATTTAAAATAATTAAAAACACATATAACAAAATAACAGGCACTTTGGAAAGGTAGGAAACAAATTGTCCATAACTCTTCAATGTGTGGGCATTTTATTTTCTTCCAGCATTTTTTCTTTTTTGCATCTTGTATTAATACAGTTGAAACCACAGAGCAGGCATTAGTGAGTGTCCTGCTCTTTCAATAAACGTTTTATCTCCTAACAACTTTGTTCAGAAGTTTTCATATTTTTGTCACCATCCCATGTGGAGATATTTTCTTCAAATAGATACCTAGCATTTTTGTTGCCCTGGATGCAGAATATCAAATTGTTTTCCAGGAGGAAACAAAGGGCTCAAGGACTGAGTCTTCTGATTGGCCACAGGCTCTGGAGGTAGACTGATCTGGGCCAAATCCTTTGTCCTGCTGCTTATTGGCCGTGGGACCTTGGGCAAGTCATTTACCCACTCCAAGCCTCAGCCTCCCCTTCTCTAAATGCTGAGAGCACATTCACCTCCTATGCTGTGAAGTAGGATAACTGATCTACCTCATTGTCTGAGAATGCAAGAGTTTGCTTTTCTCAGGCCAAACTCCTTATTCTCTTTACCAGGTTCAGTTCCTGCCCTGGGTTTCAGGATCTGAAGAAATATGGCTAGAGTCACTACCGCCAAGACCTATTGCTGATTTGGGGCAAAGCAAGAAAATAGACTGACCTGGGGCACCTGGAGGTCCTGGGGGGCCTGGGACAGTGAGCATCGATGACCCCTCTGAAAACAGAAGGCACATGGAACATTGAGCCCTACTTTTCTCACTCAGAGGCGCTGGGACCCAAGCCAGGTTGTGGTGGGCAGCCTGGCATTTCTTCTTCTCATCGCTGCTAAATTTCCCTCCTCCCCCGCTACTGATCCAAAAAACTCCCAGCCACATCCTGCCCAGAACGCTGCAGAGTCAAGGTAGGTGCCCAGTATAAGAAAGACACAGAAAGGAGGGTCCCTCTAGGACCTGCCTACCCGAAGTCACGATCTTGCCTGGAGCTCCTGGTTCACCTAGGAAGAGAGGAAAAGGCTGAGAGTGGTTGTTCTGAGGATCAATTAGTGGCTCAATAAGCCATTTTCAAGGCTTCTGATTGCATTTGGGACCCACTTCTGGGCCTCTCACCATCAGGCTAAAGGCATTTTAATGAACTGAAGGAAGGCAAGCAGGATGCATTAAGCCCCAATCTTTCAGCCAGAGTCCCTGGAGGCCAGAGCATCCGTCTTCATTCAGAGAAGTGGCTTCACTTGAGGATGTGGAAAGCTTGCCTTTCAGTGAGCCCAGAATGGGGCTGACTGGAGAGTCCTTCATGCTCCCACATTCCACCACCTCTGCCTGGGAATCGCCTTAGGTGGGAAAATTACTCAAAGGTCAAAGGACAGAGGCGATGAGCCCGCCAGGTAGAGCGGGATTCCTAGAGTGCTCTGTGGGACAGTTGTAGGGGCTGTGCAGGATTAAAGGGGGGCTCTGCAGTGGGTAAGTCTAAGAAGGTCTGAGTTATATAAAGGTTAACAAGATCTCTTTTCTGCCTTGTGTCTCAGAGCATTGAAAATACAAGTGTGCGTGGAGAACTTTCGAGAAGAGGACATTCCCAAACGTATCAACTGGATGCAGTGCTGAGAACTGACAATCCACGGACTCACTTGGGGAAACCATTCTTTAGGGGCCCCTTTTTTCATTTCTCAAGTTCTGTTAGCAATTCAGTCATTCACACAATGAAAGGAGACTATTGCTCTCTCCCCTAAAGGAAAGCAGAGGGATGGTCTCTGCTCACCATCCTTCAGCCAGGGCTCATGAACAAGACGGGAGAAGCACTTGAGTTTGTTTTGTTGGGATGCAATCCAACGTTCGGTAAAATGGCCCCTCTTGTGCATGTTGTCCAGGCAGGGTCTGAACTCCCCCTTGGACTGGAAGTCACGGGCCCTCAAAAAGGGAAGGTTTCTGTTATTCTTGGGAATTCCAAAACCTATGAGACTCTTACAAAAGGTACCATCCATTCGTGAACATATCCACGGACCTAGTGTGGTCTGCCTGGGACCTATAAACTCAGTTATCATTATTTTGGAATTACATTTAGTTAGCCCTAAAGAACTCCTTGGCCCAATCAGTCATTGGAAATGATTTCTGGAAAGTGGTTATTTTAGGGTCCCACCAAGAGTGACAGTGACTGCTCATGACAGAGCACAGCTCCATAGAATGTCAAAGTTCAGGAGCGTGTTGGAATCAAAGGAACAGAAGGACAAAGACCATCCCTGAGCACTGTGGGTCCCTGAACTTGCTCGGGGTTGAGGTCTGATAGGCAGAACTGGACAAGAGGGTCACTGTGTGCATGGGCATCACCACATTGCCCCAGTCAGACCCCCGAGGATGAGCTCCCCTCTGAGTACCCGACTTGCCCTCTCAGTAGCATCTTAACACTCCTCTCTGCCTGTACTAAAGCCTCCTCTCAGGAAGGGTCTGATGTAGCCATTCACACCAAGGCTGATATGAATGATAAGGGCAAAGGTAGCTCCTGCCCCAGGGGAAAAGACTTGTTAGGAGGGGACCAAGCCTACATACCAGGGGGATGAAGCACTAATGGGGGCATTTAGAGGCAAAACAGGGCACAGAAAGGCTTTGGGGAGGGCAGTGCCCTTCTAGAACCTCCTGTAACAGTGGCCTGGAGACATCCAAGTATGAAAGCAAGGCTCAGGTTTGTGGGGTGGGGAGGTNNNNNNNNNNNNNNNNNNNNNNNNNNN
benign
167,787
Is chromosome 10, position 104043575, gene COL17A1 (collagen type XVII alpha 1 chain) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Junctional_epidermolysis_bullosa,_non-Herlitz_type']
AATTAAGAACTTCTATAGAGAGAAGAAAATAGAAATGAGCAAAAGCTGTCACGAGGCTGCTCTCTGCCACACTTCTCACCTCTCACTGGATCTGCAGTTCCAGGCACTCCAGGCTACCCTCACAGCCCAGACACCAGGCCCTGTGTCATGGCACAAGAGCCTGCAGCACCTCATCTGCTAAGGGTGCCCCTCACTCAGAGGCAGGGCAGGACCATAGTCAAGCTCCCTGACAGCTGATAAGAGCATGTGGAATGATGGGGATACATTGGATTTCGGTGTCAGAAAGTCTGAGTTCAAACCCCTGCTCCCACACGTCTAGCTGGTGACTTTGGGCAAGTTCTCAACCTCTTTCAGCCTCAGTTTCCTCCTCTGTAAACCAAGGTCAAAAAGATCTACATCACGGGGGTGTTGGGAAGACTCGGTGAAACACTGAAGACCAAGCTCCTAACACAGTGATAGCTCAGAGTGAGCGCTGGACCGGGTGGGCTGAAGCCTCTGCTGTTCTGCACTCCAGATGTCCAGGTGGGAGGCCCGGCAGTCTCCACCTGGGCTCCTTAAAGGACCCGGGAGTGAGTCCTCTCAGCCTGGGCCTGCAGCCGAGAACCCACAGACGGTTGTCATTGCTCTCTGGGTCAGCTGTACACTCCTGCCAGATACTCATCTTCAAGGCCAAGTCTGCCCCTGGTCCTCTTGTAATCCCAGAACTTCTCTGACAGCTGCCCCAAGCCCCAGGGAATCACCTTGCAAGACCCCGGTGAAGAGCCCTGGCCCTGTCCTCCTTTTCCAAAACACACCTTTCACGTCATCTAGAACAGAGAGGCCCATGTCCACCCTGAGAGGAAAGTCCTCCCGACTGGGCCCATCGCTTTGCATTCTTGCAGGGTGTGACATACCTTGATGTCCTGGGAGACCAGCTGGGCCGGCAGGGCCTGGAAACGGGGTTGAGGAAGAAAAGGCTAAATCATGCATGTAGGGTCATAGGAAGAACTAAAGGCATAATTCCTCCCAAGGCATGGAACAGAGACCCAAAGAGGCCACCTTGCTTATTTGAGAGCAATAAGCAATTCGAGATCAGCCCTGCGGTCCAGTTGCGTGAGAACATCTCTGACAGGCACCGGGACCCCGGGGCAGGCGGGACTGCCCCCTCTGCTGCTGTCCTGTAATGGTTAGGGACTTCTACATGCCTCTATGTACTCCTTCTCACTGGAGCTTGTCAGGAGGGAAGGCTGGTACATTCTGGCCTTGGTTGTGGTAAGTTGTGTACTTCATTTGTACATAAAAATTTAAAATAATTAAAAACACATATAACAAAATAACAGGCACTTTGGAAAGGTAGGAAACAAATTGTCCATAACTCTTCAATGTGTGGGCATTTTATTTTCTTCCAGCATTTTTTCTTTTTTGCATCTTGTATTAATACAGTTGAAACCACAGAGCAGGCATTAGTGAGTGTCCTGCTCTTTCAATAAACGTTTTATCTCCTAACAACTTTGTTCAGAAGTTTTCATATTTTTGTCACCATCCCATGTGGAGATATTTTCTTCAAATAGATACCTAGCATTTTTGTTGCCCTGGATGCAGAATATCAAATTGTTTTCCAGGAGGAAACAAAGGGCTCAAGGACTGAGTCTTCTGATTGGCCACAGGCTCTGGAGGTAGACTGATCTGGGCCAAATCCTTTGTCCTGCTGCTTATTGGCCGTGGGACCTTGGGCAAGTCATTTACCCACTCCAAGCCTCAGCCTCCCCTTCTCTAAATGCTGAGAGCACATTCACCTCCTATGCTGTGAAGTAGGATAACTGATCTACCTCATTGTCTGAGAATGCAAGAGTTTGCTTTTCTCAGGCCAAACTCCTTATTCTCTTTACCAGGTTCAGTTCCTGCCCTGGGTTTCAGGATCTGAAGAAATATGGCTAGAGTCACTACCGCCAAGACCTATTGCTGATTTGGGGCAAAGCAAGAAAATAGACTGACCTGGGGCACCTGGAGGTCCTGGGGGTCCCATGGCTCCAGGAGGTCCTGGGGGGCCTGGGACAGTGAGCATCGATGACCCCTCTGAAAACAGAAGGCACATGGAACATTGAGCCCTACTTTTCTCACTCAGAGGCGCTGGGACCCAAGCCAGGTTGTGGTGGGCAGCCTGGCATTTCTTCTTCTCATCGCTGCTAAATTTCCCTCCTCCCCCGCTACTGATCCAAAAAACTCCCAGCCACATCCTGCCCAGAACGCTGCAGAGTCAAGGTAGGTGCCCAGTATAAGAAAGACACAGAAAGGAGGGTCCCTCTAGGACCTGCCTACCCGAAGTCACGATCTTGCCTGGAGCTCCTGGTTCACCTAGGAAGAGAGGAAAAGGCTGAGAGTGGTTGTTCTGAGGATCAATTAGTGGCTCAATAAGCCATTTTCAAGGCTTCTGATTGCATTTGGGACCCACTTCTGGGCCTCTCACCATCAGGCTAAAGGCATTTTAATGAACTGAAGGAAGGCAAGCAGGATGCATTAAGCCCCAATCTTTCAGCCAGAGTCCCTGGAGGCCAGAGCATCCGTCTTCATTCAGAGAAGTGGCTTCACTTGAGGATGTGGAAAGCTTGCCTTTCAGTGAGCCCAGAATGGGGCTGACTGGAGAGTCCTTCATGCTCCCACATTCCACCACCTCTGCCTGGGAATCGCCTTAGGTGGGAAAATTACTCAAAGGTCAAAGGACAGAGGCGATGAGCCCGCCAGGTAGAGCGGGATTCCTAGAGTGCTCTGTGGGACAGTTGTAGGGGCTGTGCAGGATTAAAGGGGGGCTCTGCAGTGGGTAAGTCTAAGAAGGTCTGAGTTATATAAAGGTTAACAAGATCTCTTTTCTGCCTTGTGTCTCAGAGCATTGAAAATACAAGTGTGCGTGGAGAACTTTCGAGAAGAGGACATTCCCAAACGTATCAACTGGATGCAGTGCTGAGAACTGACAATCCACGGACTCACTTGGGGAAACCATTCTTTAGGGGCCCCTTTTTTCATTTCTCAAGTTCTGTTAGCAATTCAGTCATTCACACAATGAAAGGAGACTATTGCTCTCTCCCCTAAAGGAAAGCAGAGGGATGGTCTCTGCTCACCATCCTTCAGCCAGGGCTCATGAACAAGACGGGAGAAGCACTTGAGTTTGTTTTGTTGGGATGCAATCCAACGTTCGGTAAAATGGCCCCTCTTGTGCATGTTGTCCAGGCAGGGTCTGAACTCCCCCTTGGACTGGAAGTCACGGGCCCTCAAAAAGGGAAGGTTTCTGTTATTCTTGGGAATTCCAAAACCTATGAGACTCTTACAAAAGGTACCATCCATTCGTGAACATATCCACGGACCTAGTGTGGTCTGCCTGGGACCTATAAACTCAGTTATCATTATTTTGGAATTACATTTAGTTAGCCCTAAAGAACTCCTTGGCCCAATCAGTCATTGGAAATGATTTCTGGAAAGTGGTTATTTTAGGGTCCCACCAAGAGTGACAGTGACTGCTCATGACAGAGCACAGCTCCATAGAATGTCAAAGTTCAGGAGCGTGTTGGAATCAAAGGAACAGAAGGACAAAGACCATCCCTGAGCACTGTGGGTCCCTGAACTTGCTCGGGGTTGAGGTCTGATAGGCAGAACTGGACAAGAGGGTCACTGTGTGCATGGGCATCACCACATTGCCCCAGTCAGACCCCCGAGGATGAGCTCCCCTCTGAGTACCCGACTTGCCCTCTCAGTAGCATCTTAACACTCCTCTCTGCCTGTACTAAAGCCTCCTCTCAGGAAGGGTCTGATGTAGCCATTCACACCAAGGCTGATATGAATGATAAGGGCAAAGGTAGCTCCTGCCCCAGGGGAAAAGACTTGTTAGGAGGGGACCAAGCCTACATACCAGGGGGATGAAGCACTAATGGGGGCATTTAGAGGCAAAACAGGGCACAGAAAGGCTTTGGGGAGGGCAGTGCCCTTCTAGAACCTCCTGTAACAGTGGCCTGGAGACATCCAAGTATGAAAGCAAGGCTCAGGTTTGTGGGGTGGGGAGGTGTTTGGGGAGGGGTGGGGCTTGAGGACTGGGCTTGGTTCACAAATCCCTGGGCTCCCAGCCTCA
AATTAAGAACTTCTATAGAGAGAAGAAAATAGAAATGAGCAAAAGCTGTCACGAGGCTGCTCTCTGCCACACTTCTCACCTCTCACTGGATCTGCAGTTCCAGGCACTCCAGGCTACCCTCACAGCCCAGACACCAGGCCCTGTGTCATGGCACAAGAGCCTGCAGCACCTCATCTGCTAAGGGTGCCCCTCACTCAGAGGCAGGGCAGGACCATAGTCAAGCTCCCTGACAGCTGATAAGAGCATGTGGAATGATGGGGATACATTGGATTTCGGTGTCAGAAAGTCTGAGTTCAAACCCCTGCTCCCACACGTCTAGCTGGTGACTTTGGGCAAGTTCTCAACCTCTTTCAGCCTCAGTTTCCTCCTCTGTAAACCAAGGTCAAAAAGATCTACATCACGGGGGTGTTGGGAAGACTCGGTGAAACACTGAAGACCAAGCTCCTAACACAGTGATAGCTCAGAGTGAGCGCTGGACCGGGTGGGCTGAAGCCTCTGCTGTTCTGCACTCCAGATGTCCAGGTGGGAGGCCCGGCAGTCTCCACCTGGGCTCCTTAAAGGACCCGGGAGTGAGTCCTCTCAGCCTGGGCCTGCAGCCGAGAACCCACAGACGGTTGTCATTGCTCTCTGGGTCAGCTGTACACTCCTGCCAGATACTCATCTTCAAGGCCAAGTCTGCCCCTGGTCCTCTTGTAATCCCAGAACTTCTCTGACAGCTGCCCCAAGCCCCAGGGAATCACCTTGCAAGACCCCGGTGAAGAGCCCTGGCCCTGTCCTCCTTTTCCAAAACACACCTTTCACGTCATCTAGAACAGAGAGGCCCATGTCCACCCTGAGAGGAAAGTCCTCCCGACTGGGCCCATCGCTTTGCATTCTTGCAGGGTGTGACATACCTTGATGTCCTGGGAGACCAGCTGGGCCGGCAGGGCCTGGAAACGGGGTTGAGGAAGAAAAGGCTAAATCATGCATGTAGGGTCATAGGAAGAACTAAAGGCATAATTCCTCCCAAGGCATGGAACAGAGACCCAAAGAGGCCACCTTGCTTATTTGAGAGCAATAAGCAATTCGAGATCAGCCCTGCGGTCCAGTTGCGTGAGAACATCTCTGACAGGCACCGGGACCCCGGGGCAGGCGGGACTGCCCCCTCTGCTGCTGTCCTGTAATGGTTAGGGACTTCTACATGCCTCTATGTACTCCTTCTCACTGGAGCTTGTCAGGAGGGAAGGCTGGTACATTCTGGCCTTGGTTGTGGTAAGTTGTGTACTTCATTTGTACATAAAAATTTAAAATAATTAAAAACACATATAACAAAATAACAGGCACTTTGGAAAGGTAGGAAACAAATTGTCCATAACTCTTCAATGTGTGGGCATTTTATTTTCTTCCAGCATTTTTTCTTTTTTGCATCTTGTATTAATACAGTTGAAACCACAGAGCAGGCATTAGTGAGTGTCCTGCTCTTTCAATAAACGTTTTATCTCCTAACAACTTTGTTCAGAAGTTTTCATATTTTTGTCACCATCCCATGTGGAGATATTTTCTTCAAATAGATACCTAGCATTTTTGTTGCCCTGGATGCAGAATATCAAATTGTTTTCCAGGAGGAAACAAAGGGCTCAAGGACTGAGTCTTCTGATTGGCCACAGGCTCTGGAGGTAGACTGATCTGGGCCAAATCCTTTGTCCTGCTGCTTATTGGCCGTGGGACCTTGGGCAAGTCATTTACCCACTCCAAGCCTCAGCCTCCCCTTCTCTAAATGCTGAGAGCACATTCACCTCCTATGCTGTGAAGTAGGATAACTGATCTACCTCATTGTCTGAGAATGCAAGAGTTTGCTTTTCTCAGGCCAAACTCCTTATTCTCTTTACCAGGTTCAGTTCCTGCCCTGGGTTTCAGGATCTGAAGAAATATGGCTAGAGTCACTACCGCCAAGACCTATTGCTGATTTGGGGCAAAGCAAGAAAATAGACTGACCTGGGGCACCTGGAGGTCCTGGGGGTCCCATGGCTCCAGGAGGTCCTGGGGGGCCTGGGACAGTGAGCATCGATGACAGAAGGCACATGGAACATTGAGCCCTACTTTTCTCACTCAGAGGCGCTGGGACCCAAGCCAGGTTGTGGTGGGCAGCCTGGCATTTCTTCTTCTCATCGCTGCTAAATTTCCCTCCTCCCCCGCTACTGATCCAAAAAACTCCCAGCCACATCCTGCCCAGAACGCTGCAGAGTCAAGGTAGGTGCCCAGTATAAGAAAGACACAGAAAGGAGGGTCCCTCTAGGACCTGCCTACCCGAAGTCACGATCTTGCCTGGAGCTCCTGGTTCACCTAGGAAGAGAGGAAAAGGCTGAGAGTGGTTGTTCTGAGGATCAATTAGTGGCTCAATAAGCCATTTTCAAGGCTTCTGATTGCATTTGGGACCCACTTCTGGGCCTCTCACCATCAGGCTAAAGGCATTTTAATGAACTGAAGGAAGGCAAGCAGGATGCATTAAGCCCCAATCTTTCAGCCAGAGTCCCTGGAGGCCAGAGCATCCGTCTTCATTCAGAGAAGTGGCTTCACTTGAGGATGTGGAAAGCTTGCCTTTCAGTGAGCCCAGAATGGGGCTGACTGGAGAGTCCTTCATGCTCCCACATTCCACCACCTCTGCCTGGGAATCGCCTTAGGTGGGAAAATTACTCAAAGGTCAAAGGACAGAGGCGATGAGCCCGCCAGGTAGAGCGGGATTCCTAGAGTGCTCTGTGGGACAGTTGTAGGGGCTGTGCAGGATTAAAGGGGGGCTCTGCAGTGGGTAAGTCTAAGAAGGTCTGAGTTATATAAAGGTTAACAAGATCTCTTTTCTGCCTTGTGTCTCAGAGCATTGAAAATACAAGTGTGCGTGGAGAACTTTCGAGAAGAGGACATTCCCAAACGTATCAACTGGATGCAGTGCTGAGAACTGACAATCCACGGACTCACTTGGGGAAACCATTCTTTAGGGGCCCCTTTTTTCATTTCTCAAGTTCTGTTAGCAATTCAGTCATTCACACAATGAAAGGAGACTATTGCTCTCTCCCCTAAAGGAAAGCAGAGGGATGGTCTCTGCTCACCATCCTTCAGCCAGGGCTCATGAACAAGACGGGAGAAGCACTTGAGTTTGTTTTGTTGGGATGCAATCCAACGTTCGGTAAAATGGCCCCTCTTGTGCATGTTGTCCAGGCAGGGTCTGAACTCCCCCTTGGACTGGAAGTCACGGGCCCTCAAAAAGGGAAGGTTTCTGTTATTCTTGGGAATTCCAAAACCTATGAGACTCTTACAAAAGGTACCATCCATTCGTGAACATATCCACGGACCTAGTGTGGTCTGCCTGGGACCTATAAACTCAGTTATCATTATTTTGGAATTACATTTAGTTAGCCCTAAAGAACTCCTTGGCCCAATCAGTCATTGGAAATGATTTCTGGAAAGTGGTTATTTTAGGGTCCCACCAAGAGTGACAGTGACTGCTCATGACAGAGCACAGCTCCATAGAATGTCAAAGTTCAGGAGCGTGTTGGAATCAAAGGAACAGAAGGACAAAGACCATCCCTGAGCACTGTGGGTCCCTGAACTTGCTCGGGGTTGAGGTCTGATAGGCAGAACTGGACAAGAGGGTCACTGTGTGCATGGGCATCACCACATTGCCCCAGTCAGACCCCCGAGGATGAGCTCCCCTCTGAGTACCCGACTTGCCCTCTCAGTAGCATCTTAACACTCCTCTCTGCCTGTACTAAAGCCTCCTCTCAGGAAGGGTCTGATGTAGCCATTCACACCAAGGCTGATATGAATGATAAGGGCAAAGGTAGCTCCTGCCCCAGGGGAAAAGACTTGTTAGGAGGGGACCAAGCCTACATACCAGGGGGATGAAGCACTAATGGGGGCATTTAGAGGCAAAACAGGGCACAGAAAGGCTTTGGGGAGGGCAGTGCCCTTCTAGAACCTCCTGTAACAGTGGCCTGGAGACATCCAAGTATGAAAGCAAGGCTCAGGTTTGTGGGGTGGGGAGGTGTTTGGGGAGGGGTGGGGCTTGAGGACTGGGCTTGGTTCACAAATCCCTGGGCTCCCAGCCTCANNNNNNNNNNNN
pathogenic
167,788
A mutation at chromosome position 104048097 on chromosome 10 in gene COL17A1: benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Epidermolysis_bullosa,_junctional_4,_intermediate', 'Epithelial_recurrent_erosion_dystrophy', 'Junctional_epidermolysis_bullosa']
TCCATCCCTTGGGGTTATGAGCCACCTGGAGCCTGCAGAGCAGCCTCTGTCTCCCTTCTCCCCTGCAGGGGAGGGGCTCGGCTTCCTGAGTCCAATGCAGCATCACCCTCTTGCCTTTAACTACTGAACTCCTCTGTAAGAGCATTGGAAGCATGTCCCTATGAATTCAACTGCTGGGGGGCTGCTGCCTGATTTCATTTTCAATCTTTGCCTAATTTCTTTCAGGAAATTAGGGGATGAATGTAGTGATATGGGGGCACAATGGTCCAATTACAGGACAGGCTTTAACACTGAGGCTGTCCCAGAGAAACTGGGCTTTCCCGAACAAGGATGAGCGCCCATGCCCTGTCATGCCAGTGGGGGAACTTGGGCCTCTGGACTAACAGCTCTCCTGGCTAGTGGGAGCTCAGCTATGAGCTTGGGGTTCCTCTCAGATTCCTGCACCCGAGGGGAACAGGGCACAGGCAGACAGAATTGACACACAATCTAATCTCATTTCTACTCGAATGGTGTTCTAGATTGTTCTGTGCCTATTTTTCCTTCCTAAGGTGCTTCTCACGACTCATAGTGAAAGGGAGTGTGTGCCAGGGAGTTGGTGGAGGAGAGGAAACTCTGGTGACTGCAGGAAAAGCCCTGGCCCAAGCAGTTACCCCAGGAGAAGGTGGGAGACAGCAGGTGGGAATGATCCAGCGACTCACCCTGAGGTCCCTGGGGTCCTGTGAGACCTGCAGAAAATCAGACACAAGAGGGAAGAGTTGAAGGGTGGAGGCCATCCCTGGTAGCCACACCCACACCTGCAGAAACCGGTGGACACTGCAGTGGAGGGGTCAGTGGGTACAGAAGGACACGTCTCATGCCGGGGCAGCCAGCATCCTTGGACCTCTCAGCTCTGGATGGAGAGCAGTTCTTCGGGCTTTGCAGTGAAGCGACCCACCACTTTCTCAGGCAATGGTGCTGAGCCTATCTGGGTTCACAGACCCTTTTGGAATCTGAGGAGAGCCACAAATCCGGAATGCTCAACACTCACGGATCCCAATGCTGCCCCAGGTTCCCCCTCTATGGCTCCTGTCTGGGCACCCGCCAAAGGAGGCTGAGGAGGCCCCTACTCTCAGAGGCCCCCGATGAATGCCCACCCGCCTTGACCACACAGCTTTCTTGGCTGGTTTTCATTTGTTCTTCCTGCAACCCTGAGAAGTTTGCTCTTTGCTCTCGGTGGAGACTCTAACAATGGCTTCCTCCTCGGCCTCGTGGGTGTTGGTGAGGGCCCAGTACAGGAGAGGAGGACAAGAGGAGAAGGGCTCAGAGGAGCAAGATAGCGAGGTGACCTTCAAGTCTGCAGTTTTAAGAGTGTCCTTGCCCCTTTCTAGAAATCCTTATGTTTAGCTGTTAATCCCACTCTTCTGAATTGCCAGACTTAGTTACCCAGAGGTGCCAGGGCCTACAGCCACTGCACGCAAAACAACCTAACACTATGGCAGTTCCCTGCTGAGCTGCTGGAGGAAAACGGGATAAGGCACACATGGGTGCATTTGTAAACACCTGCATGCACACACACAACCATGCACATATACACCCCTTCCCCCACAACCTGCACACCTGCACATGCACACGCACACACATGCCTACATCCACACACACAAAGCACACACACACTAAGCAGGGCCATGGCTCCCTCTTCCTGCTCTGTTACCTGGCTTTCCTGGGTCTCCAGAAGGTCCTGGTGGGCCACGGATTCCAGGCATCCCAGTAAGACCTTGTTCACCTAGAGAGAGAATGGCCAACGTGGAAGTGTTTACATTTAGGAAAGCTAAACTGGTTATCACATCTGAACTGATAGTTTCTGAGGGTTTTCCTAATTGACTTGCTGGCAGGTGGAAAGGAGAAGGGGAACAGAACTGGACACTGCACACTTCCACATGCTATATGCTCCTCTGCACTATGGTTAAGGGGACTGAGGGCTGCATGCTGGAACAGGGGCTGTGACGGGAGTGAGGCTGGGGGCAGCAGATGAGTGACCAACCTCTTGGGCCTTGGTGTCCGTCTGGGCCAGCAGGACCTGGTAAAGTAGAAGCAAGGTCTCTCAGTTGCTCCTGGAGTGATTTCTGCGATTCCTCCCTCTACTGTCCCAGTGGCCTTGAAGCACATTGTGTCCCAGGAGCCCACGCAGCCATCAGCCACGGGACAGCCCTGTCTGTCACACTCTCTGGATACGGTACTCCCACTGCCCCTTCTCCTAAACCAGCAATTGTCTCTTTTCCTGTTGAGAATTGTTCAGTGCCTTCCCATTGCATCTCAAGCGCCTCGATGCTCAATGCTTGTCGCGTTTACTTGAGGGCCTAGAAGTCAAGGTCCTCCATGTTCTTGTCTCCTCTGCTCTAGGCATTATTGTAACCTCTCTCCAAAATGGTGGCCTTCTGGGACCATATCTTGCTCTTTCCCATTTCTTTGTCTTTCCCTGCTCGTGCTGTCATCCCTGCATGGAATTTTCCAGACTGGTCATGCTTAAAATCTTTCCAACTTTTTGGGACCACTTGAAATGCCCCCTCCTCCGTCCTTCCTATTGGAAGAAATCTCTCCTTTGACTGTATCCTCACAGCACTCTGTACCTTGCGTGACACTTGTCACCTCATGCAAGTCTTATCTCCCCTTGAGGGAGGTAAAGCATCTCATTTGCCTAGCACAGTGTCAGCACTCACAGCTGGGGAAGTGAACGAGAGTACACATGCTGCATCTCCACAGGTAAGGCTTAAACCCTTCTTGGGTTTGATCCTCAACATGGTCTTTTTTTTTTTTGGTTTTTTTTTGAGAGATGAATTCTTGCTCTGTCACCCAGACTGTAGCGCAGTGGTGTAATCATGGCTCACTGCAGCCTCCAACTCCTGAGTTCAAGCGATCATCCTGAGTCCCAGGGATTACAGGCGTGAATCACTGCACCTGGCTACCTCTGAGATTCTTGGTCAGTTTCTGCAGCCAGGCTGACAGGCACCTCAGGTGAACAAAAGGGTAAAAACCTGGATTTGGCCATGAGACTAGCCCTGGGATTCCTGGAACACTTGAGGCTCCTAAGGACTTCAACACTGTCTTCCCCAGGGGAGTGGGGAGCTCACAGGCAGCTCTTAGGTGAATGGACCATGCCCTGCAAGGCCTCTCCCAAAGTGGAAAGAAACCCACAGAGGTACCTGCAGCTCTCTGATCCCCAGAAAGGATGCCCAGACACAGAAATGACTGGTCAAGGGAGACTCTACCAGGAGTGGGCAGATTAGAGAGTAGGAGAGGCAGCTCTAGAAGACGGATCTCTCCAGGGTCGTGGTGACCCCTCAGATGGGGAACTCACTGAATCCATTCCTTTGGAACACTTACCCATTGCTCCTTTAGCCCCGGGCTCACCAACAGCACCAGGCAAACCTCTCATGCCAGGCTCGCCTGCAAAGGACAAAGAACTAGCTGGTTGGACACTTGCAAGCTGTGTATGCTTTAACAATGGTGGTCTGCTCCCTCCTCCAAGAGGTCAAGGAAGCAGCTTCTGCTTTGATTCCAAGGTCAGGGCCACTTGGAACCCCTGGGAAGTGGCATGGGCTCAACCAGAAACCACACCTAATCAGAATCATGGGCATGTGCATGAGTCTTATTTCCTTGGAAACTGAAAACCACCCCTTGAGTCACAGCTTTATCACTGTCAATTTCCTTTATAATCATGCCAGTTGGCAGGAGGTCAGTGGTTGAGAGGATACCGGGGTGCAAACTTTCTGCTGCTTCGGGAAGAGCTTAATTTTCTCAACTGTATTCCCCAAAAGAATCAGAGACAATCCTACACTTTCTTTTTTGCTCCAAACATTTACTGTTTGGACTATACATCTGGATACCTCCTTATCCTCCACTCCAGGCTTTATTTTCTCATCTTGTGTTTTTTCTAGATCACAAGTTCCCTGAAGGGTTTTAAACAGATTCGGTCTCTTACTTCTGGATTTTTTCCAACCTAGTGACTGATGGATTTACAAAAGTCGTGGATAGATTAAAGTAGATTCCCATGACAGACTGACCTGTGAGGCCTCGAGGTCCTTTCTCACCCTGGTCACCTAAAGCAAACAAGGGGGAG
TCCATCCCTTGGGGTTATGAGCCACCTGGAGCCTGCAGAGCAGCCTCTGTCTCCCTTCTCCCCTGCAGGGGAGGGGCTCGGCTTCCTGAGTCCAATGCAGCATCACCCTCTTGCCTTTAACTACTGAACTCCTCTGTAAGAGCATTGGAAGCATGTCCCTATGAATTCAACTGCTGGGGGGCTGCTGCCTGATTTCATTTTCAATCTTTGCCTAATTTCTTTCAGGAAATTAGGGGATGAATGTAGTGATATGGGGGCACAATGGTCCAATTACAGGACAGGCTTTAACACTGAGGCTGTCCCAGAGAAACTGGGCTTTCCCGAACAAGGATGAGCGCCCATGCCCTGTCATGCCAGTGGGGGAACTTGGGCCTCTGGACTAACAGCTCTCCTGGCTAGTGGGAGCTCAGCTATGAGCTTGGGGTTCCTCTCAGATTCCTGCACCCGAGGGGAACAGGGCACAGGCAGACAGAATTGACACACAATCTAATCTCATTTCTACTCGAATGGTGTTCTAGATTGTTCTGTGCCTATTTTTCCTTCCTAAGGTGCTTCTCACGACTCATAGTGAAAGGGAGTGTGTGCCAGGGAGTTGGTGGAGGAGAGGAAACTCTGGTGACTGCAGGAAAAGCCCTGGCCCAAGCAGTTACCCCAGGAGAAGGTGGGAGACAGCAGGTGGGAATGATCCAGCGACTCACCCTGAGGTCCCTGGGGTCCTGTGAGACCTGCAGAAAATCAGACACAAGAGGGAAGAGTTGAAGGGTGGAGGCCATCCCTGGTAGCCACACCCACACCTGCAGAAACCGGTGGACACTGCAGTGGAGGGGTCAGTGGGTACAGAAGGACACGTCTCATGCCGGGGCAGCCAGCATCCTTGGACCTCTCAGCTCTGGATGGAGAGCAGTTCTTCGGGCTTTGCAGTGAAGCGACCCACCACTTTCTCAGGCAATGGTGCTGAGCCTATCTGGGTTCACAGACCCTTTTGGAATCTGAGGAGAGCCACAAATCCGGAATGCTCAACACTCACGGATCCCAATGCTGCCCCAGGTTCCCCCTCTATGGCTCCTGTCTGGGCACCCGCCAAAGGAGGCTGAGGAGGCCCCTACTCTCAGAGGCCCCCGATGAATGCCCACCCGCCTTGACCACACAGCTTTCTTGGCTGGTTTTCATTTGTTCTTCCTGCAACCCTGAGAAGTTTGCTCTTTGCTCTCGGTGGAGACTCTAACAATGGCTTCCTCCTCGGCCTCGTGGGTGTTGGTGAGGGCCCAGTACAGGAGAGGAGGACAAGAGGAGAAGGGCTCAGAGGAGCAAGATAGCGAGGTGACCTTCAAGTCTGCAGTTTTAAGAGTGTCCTTGCCCCTTTCTAGAAATCCTTATGTTTAGCTGTTAATCCCACTCTTCTGAATTGCCAGACTTAGTTACCCAGAGGTGCCAGGGCCTACAGCCACTGCACGCAAAACAACCTAACACTATGGCAGTTCCCTGCTGAGCTGCTGGAGGAAAACGGGATAAGGCACACATGGGTGCATTTGTAAACACCTGCATGCACACACACAACCATGCACATATACACCCCTTCCCCCACAACCTGCACACCTGCACATGCACACGCACACACATGCCTACATCCACACACACAAAGCACACACACACTAAGCAGGGCCATGGCTCCCTCTTCCTGCTCTGTTACCTGGCTTTCCTGGGTCTCCAGAAGGTCCTGGTGGGCCACGGATTCCAGGCATCCCAGTAAGACCTTGTTCACCTAGAGAGAGAATGGCCAACGTGGAAGTGTTTACATTTAGGAAAGCTAAACTGGTTATCACATCTGAACTGATAGTTTCTGAGGGTTTTCCTAATTGACTTGCTGGCAGGTGGAAAGGAGAAGGGGAACAGAACTGGACACTGCACACTTCCACATGCTATATGCTCCTCTGCACTATGGTTAAGGGGACTGAGGGCTGCATGCTGGAACAGGGGCTGTGACGGGAGTGAGGCTGGGGGCAGCAGATGAGTGACCAACCTCTTGGGCCTTGGTGTCCGTCTGGGCCCAAGTAAAGTAGAAGCAAGGTCTCTCAGTTGCTCCTGGAGTGATTTCTGCGATTCCTCCCTCTACTGTCCCAGTGGCCTTGAAGCACATTGTGTCCCAGGAGCCCACGCAGCCATCAGCCACGGGACAGCCCTGTCTGTCACACTCTCTGGATACGGTACTCCCACTGCCCCTTCTCCTAAACCAGCAATTGTCTCTTTTCCTGTTGAGAATTGTTCAGTGCCTTCCCATTGCATCTCAAGCGCCTCGATGCTCAATGCTTGTCGCGTTTACTTGAGGGCCTAGAAGTCAAGGTCCTCCATGTTCTTGTCTCCTCTGCTCTAGGCATTATTGTAACCTCTCTCCAAAATGGTGGCCTTCTGGGACCATATCTTGCTCTTTCCCATTTCTTTGTCTTTCCCTGCTCGTGCTGTCATCCCTGCATGGAATTTTCCAGACTGGTCATGCTTAAAATCTTTCCAACTTTTTGGGACCACTTGAAATGCCCCCTCCTCCGTCCTTCCTATTGGAAGAAATCTCTCCTTTGACTGTATCCTCACAGCACTCTGTACCTTGCGTGACACTTGTCACCTCATGCAAGTCTTATCTCCCCTTGAGGGAGGTAAAGCATCTCATTTGCCTAGCACAGTGTCAGCACTCACAGCTGGGGAAGTGAACGAGAGTACACATGCTGCATCTCCACAGGTAAGGCTTAAACCCTTCTTGGGTTTGATCCTCAACATGGTCTTTTTTTTTTTTGGTTTTTTTTTGAGAGATGAATTCTTGCTCTGTCACCCAGACTGTAGCGCAGTGGTGTAATCATGGCTCACTGCAGCCTCCAACTCCTGAGTTCAAGCGATCATCCTGAGTCCCAGGGATTACAGGCGTGAATCACTGCACCTGGCTACCTCTGAGATTCTTGGTCAGTTTCTGCAGCCAGGCTGACAGGCACCTCAGGTGAACAAAAGGGTAAAAACCTGGATTTGGCCATGAGACTAGCCCTGGGATTCCTGGAACACTTGAGGCTCCTAAGGACTTCAACACTGTCTTCCCCAGGGGAGTGGGGAGCTCACAGGCAGCTCTTAGGTGAATGGACCATGCCCTGCAAGGCCTCTCCCAAAGTGGAAAGAAACCCACAGAGGTACCTGCAGCTCTCTGATCCCCAGAAAGGATGCCCAGACACAGAAATGACTGGTCAAGGGAGACTCTACCAGGAGTGGGCAGATTAGAGAGTAGGAGAGGCAGCTCTAGAAGACGGATCTCTCCAGGGTCGTGGTGACCCCTCAGATGGGGAACTCACTGAATCCATTCCTTTGGAACACTTACCCATTGCTCCTTTAGCCCCGGGCTCACCAACAGCACCAGGCAAACCTCTCATGCCAGGCTCGCCTGCAAAGGACAAAGAACTAGCTGGTTGGACACTTGCAAGCTGTGTATGCTTTAACAATGGTGGTCTGCTCCCTCCTCCAAGAGGTCAAGGAAGCAGCTTCTGCTTTGATTCCAAGGTCAGGGCCACTTGGAACCCCTGGGAAGTGGCATGGGCTCAACCAGAAACCACACCTAATCAGAATCATGGGCATGTGCATGAGTCTTATTTCCTTGGAAACTGAAAACCACCCCTTGAGTCACAGCTTTATCACTGTCAATTTCCTTTATAATCATGCCAGTTGGCAGGAGGTCAGTGGTTGAGAGGATACCGGGGTGCAAACTTTCTGCTGCTTCGGGAAGAGCTTAATTTTCTCAACTGTATTCCCCAAAAGAATCAGAGACAATCCTACACTTTCTTTTTTGCTCCAAACATTTACTGTTTGGACTATACATCTGGATACCTCCTTATCCTCCACTCCAGGCTTTATTTTCTCATCTTGTGTTTTTTCTAGATCACAAGTTCCCTGAAGGGTTTTAAACAGATTCGGTCTCTTACTTCTGGATTTTTTCCAACCTAGTGACTGATGGATTTACAAAAGTCGTGGATAGATTAAAGTAGATTCCCATGACAGACTGACCTGTGAGGCCTCGAGGTCCTTTCTCACCCTGGTCACCTAAAGCAAACAAGGGGGAGNNNNNNNN
pathogenic
167,799
Located at chromosome 10 position 104053089, the variant affecting gene COL17A1 (collagen type XVII alpha 1 chain)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Junctional_epidermolysis_bullosa,_non-Herlitz_type']
ACTCCTTCCCAAGTCCTTTTTAAGTCATTTTGGCCCAGGTTCCTTGCCTCTGCTGATGAACAGGCATTAGAACACATTGTCGAGTCTTGGCAGAGGCACTGGCCACAGCTCAAGATTCTCAAGACAGCAGGACAAGCTCTGTGGCCATAGGGGACAAGAGAGAGGCAGGTGCTTGCTCAGATGGAGGCAGGATGGGGACTTCCATTGCTGAAGCTGCTGGAGGGTCTCAAGCCCTAAGCCAGGTCAGAAGGGATCTGGACAGGACATATCAGGGAGCCCAACCTCTGCCACAGGAGACACACATGCAGACTTGAATTCTATATCTCTAGGAGGCTTGCTTTATAATTGCTTCTTTGGCTTTAAAAATATTTGGTTTTCCTTTTAACATTGCCACCTTTGCCCTGGAAACAGAACCTATTTACAAGAAGCAGCAAACTGACCTGGAGGGCCCTGTGGGCCAGGAGAGCCGCTGGAACCTGAGAAGGAGGACAAGACAGCAATCAGCAGAGGGGCAGATACAGGTGGGGACATCTGGCCCCGGTGCAGGGCAGGTGGGGGTTAGGGACGCTGTCTTCCAGGTGAGGGCTGTGTGAGTGTATTGCAGGCCAGGGGTGACCCCAGTGCATGTCCTCCTTAGGGAGGGGGTGCAGCTGGGTGGGATCAAACTACCCTTTGCTCTTTCCTGGTCAGAGTAGAACATTTGGGCTGGGGCAGTAGAACATTTGGGTTTTGAGAAGGGGCCCATTCTCCCTGGGTTGCCCAGACATGTTACTTTTGGTGTGTGCATCTGGGCCGCAGTCAGTCAAGGAAATGGTCTAACTTCTGATTTCCTGAATGATCCATCCACCCACTTAGGGATCACATAACGGGGCCATTGAAGAGAGATGGAAACATGGCCCCAAGCCCATTATGGGGCTAAACTTACAGCCCTAGTCTTGACTCCCCAGGGACTGCTTTTCTGGGGGATGCTCTTTGGACCCACCCACCACCCCTGCACAGGCCTGGGGCAGGGGGTTAGGGCTGTCTGGGGTCCCAGGGCCTCTTCTCTGTGATCCATCCTGAATGTGGCTTCTCCTCTGGAAAACTTTGATTCCTTCCTGCACACTGGACTTACCTTTGGGACCCACAGAACCTGGGACACCAGGTGGGCCATGAGGACCTGGTTCACCAGCAGCCCCTGAGGAGAAATGGAGGGATGAGCACTTTGGGAGAGGCCCCAGTGTGGCTGCCCCCTATCCTGGCACTGTCATTTGGAGGGGATGCTTCCCACCCTGCTAGTGGTCTTGGATCCATTTGGTGCCCCAGTGAGGCCACTTATCAGCAAAACTCCTTAGCTTCTACCCCCAGAGACTTTATAGTCTATGGAGTTTGACACCTAGTAGGCACTCAATAAATTTTATTGTCTGGTTGAGCAATATTTTAAAGAGAAAGTAAAGCTGAAAATAAAGCTTCCTGCTCACAGTCTGTTAGCATTAAGAGGACTTCTGGTATCTGTCTTGGTTTCCCCTGACAAAAGCAGTCTCATAGTTAAGGATGGAATTGCAACACCTTCCCCAGCCTCTCCAGCACTGAACCTATGTCTGGGGCCTTCCCCACCTCCCTCTTGGCCTCCTTCCAGCTAGGAAAGGCTCAAAGGTCTGTGCCCCACTCCACCTTACAATTGACTCTGCCCTGCCCTGCCCCCTGAGCCCCACCTCGGCCTGACTCCTCACCCTCACCACCCAACTCCAGGAAGGCCACTGCTCCTGTGACCACTTTCCCGGTGGATTCCAGGGATGTCAGATGGGTTCTCAGCCCTAGGCCTGGCCCTGTAGCCCAGCCTATGCCCAGCGTCTCTGCAGGGCCTAGCACAGACCCTGACTCAGGGTGGGTGCTCAGTAAATGAAGGAAGGGGGGAGAAACAGAGACAGAGTGAAGGAGGGACGGGTGTTGACAGAGAGAAGGAAGCACAGGCATAGCTAACTCTGCCGGTGAAGGAATTGCCTCTTACCTCTTTCCCCTTTCTCTCCAGATCCAGGAGGCCCTGCCTCACCACGAGGTCCCATGGGGCCTTCTCGCCCTCTCTGGCCCATGGGGCCTTCCATGCCAGGATCTCCTAAAGACAGGGATGGCCAGCCTCCAAGTCAGGATCCCGTACCCCAGCTAACGGCTCCACAGGCAGCCTCCCACGGCAGACGCTTGCCTGGAGCCCTTCCCTGGCCTCCCTGCTTGCTTCTCTCCTGGACCCCATAGCCTTGGCTCAACCTGGAAGCCAGAGTGACCCTTTGAAAATGTGAGTAGATCATGTTCTACCTCTGCCCCAAACCTGCACATGGCTTCTCAACTCACCCAGAGTCAAAGCCAAAGTCCTTACACTGGCCTCTGAGGCCCCACACAGCCTGCCTCCTCTCGGCCCATCCCTTTGGACTTTCCAGCTCAGAGGTCTTCCCCTTCCTGATGCTCCTTAAAAATTGCCCTGGGGCCTGAGCCTTGGCCTTGGCTGCTCCCTCTGCCTGGAATGTTTTCCCTAGATCTCTCCTGCTTGGCTCCTTCTTGCCCTTCGAATCTTTGCTCAAATGGTGGCCTCTCAGGGAGGCCTTCCCTGGCTTCCCTGTGTAAAATTACTCTCCCCAGCTCTCATTCCCAAAATCCCTCCAGGCTCTCCTTTCCCATGTCGTGCATCACCCGTAAACTGCTATAGACTTCACTATTTCTCACAGTTACTGTCTTTCTCCCAAACCCAAATCTCAGCTCCACAACAGCAGGGTTTCTCTGTTTGGTTCACTGGTGTCTCTCCAGAGCCTAAAACAAGGCCTCACATACAGCAGGCACTTAATGAATGTTTATTAAATGAATGAAAGAATGAGGAATAAATGAATAAAGAAAAATGTGTTTCTTACCCACGCTGCCTTTTTGACCCTTTGGTCCTTGTGGACCTGGGTGGCCCAAGGGCCCAGGGATACCTGTGAACACACAAGGATATCTCAGCCCCTGTTTTCCTCCCAGAAGCCATCAGCTAGGATTGAGCAGCTGCAACACTGGCAGGCCTGGAGGTCATCAGAGAGTACATACCTGGAGTCCCAGGGAACCCTCGATCTCCTGCAGGAACAAAGGCAAAAGAGAGAGTGGTCAGCCAGAAGACTGTGCCCAATTCCCAAAGCAGTCACTAGTGGGATTCAGGTAGGGTTGCCAAACTTAGGAAATAAAAATGCAGATGTCCAGTTACATTTGAATTGCAGATAAACAACACATAGTTTTAGTTATAAGTATGTCCCATGAAATATTTGGGACAAGTTATAGTGAAAAATTATTTGTTGTTTATCTTCAAAGTTAACTGGGAGTCCTGTATTTTATCTGACAACTGCAGGTTCAGGTACTCTGGCAGTATCAGTCCCCACCACTAACATGGTCAGGAGGGGTGTGCGGGCTGGAGACTTGGGGAAGGAGGGCTGGGACAATGACCCAGGTATATGCGAGGGTGTGGGTGGCAAGGATCTGAAGGGAAAGAAGAGACTCGAGGGCCCCAAAGTGGAGGAGCTGACTTCCTGCCCTGGGGTTGCCTAGGGAGTGAGGAGGGAGCTGGAGAGAGGTGGGATCCTGTCATCTTGAACGTGGTGCTCAGTATTCTTCTGGCTGCAGAATCACCGTGGATGACTAAGATAAAGACTCCTGCCCACATGCATACCCCCTGAGTCAAAGGCTCGGGAAATGTGGCCCAAACTCTTTTGGAGATTCCTGTGCACAGGGAAGCTCGCCAATCCCGGTCAGCTGGACCAAGGAAAACTGCTCTGTGTCCAGCCAAAGGTCCCTGGGATTGGAAACCTCTCCTCCTCACACACCTGTCCCATCTGTTGTCAAATTACTTCTTGGAGTGCAAGGTGGGTTTTCTGACACTTGCTGATTGTTTGAAACAATTAACACTTGCTAATATTTAAGGTAAAAATGCCCATGTTATAATTACCTTTAGGGCCTGGACTTCCCATGTCACCTGAAACCAGAAAGATATGAAAACTGTGAGATGGGGCAAGAACCCAAAGGCCATACTCTGCCTTGTATTTTAAAACCATTTGACAAGATGTAAACTGTATTTCAAGGTGAGGCGACATGCGGCGAGTCC
ACTCCTTCCCAAGTCCTTTTTAAGTCATTTTGGCCCAGGTTCCTTGCCTCTGCTGATGAACAGGCATTAGAACACATTGTCGAGTCTTGGCAGAGGCACTGGCCACAGCTCAAGATTCTCAAGACAGCAGGACAAGCTCTGTGGCCATAGGGGACAAGAGAGAGGCAGGTGCTTGCTCAGATGGAGGCAGGATGGGGACTTCCATTGCTGAAGCTGCTGGAGGGTCTCAAGCCCTAAGCCAGGTCAGAAGGGATCTGGACAGGACATATCAGGGAGCCCAACCTCTGCCACAGGAGACACACATGCAGACTTGAATTCTATATCTCTAGGAGGCTTGCTTTATAATTGCTTCTTTGGCTTTAAAAATATTTGGTTTTCCTTTTAACATTGCCACCTTTGCCCTGGAAACAGAACCTATTTACAAGAAGCAGCAAACTGACCTGGAGGGCCCTGTGGGCCAGGAGAGCCGCTGGAACCTGAGAAGGAGGACAAGACAGCAATCAGCAGAGGGGCAGATACAGGTGGGGACATCTGGCCCCGGTGCAGGGCAGGTGGGGGTTAGGGACGCTGTCTTCCAGGTGAGGGCTGTGTGAGTGTATTGCAGGCCAGGGGTGACCCCAGTGCATGTCCTCCTTAGGGAGGGGGTGCAGCTGGGTGGGATCAAACTACCCTTTGCTCTTTCCTGGTCAGAGTAGAACATTTGGGCTGGGGCAGTAGAACATTTGGGTTTTGAGAAGGGGCCCATTCTCCCTGGGTTGCCCAGACATGTTACTTTTGGTGTGTGCATCTGGGCCGCAGTCAGTCAAGGAAATGGTCTAACTTCTGATTTCCTGAATGATCCATCCACCCACTTAGGGATCACATAACGGGGCCATTGAAGAGAGATGGAAACATGGCCCCAAGCCCATTATGGGGCTAAACTTACAGCCCTAGTCTTGACTCCCCAGGGACTGCTTTTCTGGGGGATGCTCTTTGGACCCACCCACCACCCCTGCACAGGCCTGGGGCAGGGGGTTAGGGCTGTCTGGGGTCCCAGGGCCTCTTCTCTGTGATCCATCCTGAATGTGGCTTCTCCTCTGGAAAACTTTGATTCCTTCCTGCACACTGGACTTACCTTTGGGACCCACAGAACCTGGGACACCAGGTGGGCCATGAGGACCTGGTTCACCAGCAGCCCCTGAGGAGAAATGGAGGGATGAGCACTTTGGGAGAGGCCCCAGTGTGGCTGCCCCCTATCCTGGCACTGTCATTTGGAGGGGATGCTTCCCACCCTGCTAGTGGTCTTGGATCCATTTGGTGCCCCAGTGAGGCCACTTATCAGCAAAACTCCTTAGCTTCTACCCCCAGAGACTTTATAGTCTATGGAGTTTGACACCTAGTAGGCACTCAATAAATTTTATTGTCTGGTTGAGCAATATTTTAAAGAGAAAGTAAAGCTGAAAATAAAGCTTCCTGCTCACAGTCTGTTAGCATTAAGAGGACTTCTGGTATCTGTCTTGGTTTCCCCTGACAAAAGCAGTCTCATAGTTAAGGATGGAATTGCAACACCTTCCCCAGCCTCTCCAGCACTGAACCTATGTCTGGGGCCTTCCCCACCTCCCTCTTGGCCTCCTTCCAGCTAGGAAAGGCTCAAAGGTCTGTGCCCCACTCCACCTTACAATTGACTCTGCCCTGCCCTGCCCCCTGAGCCCCACCTCGGCCTGACTCCTCACCCTCACCACCCAACTCCAGGAAGGCCACTGCTCCTGTGACCACTTTCCCGGTGGATTCCAGGGATGTCAGATGGGTTCTCAGCCCTAGGCCTGGCCCTGTAGCCCAGCCTATGCCCAGCGTCTCTGCAGGGCCTAGCACAGACCCTGACTCAGGGTGGGTGCTCAGTAAATGAAGGAAGGGGGGAGAAACAGAGACAGAGTGAAGGAGGGACGGGTGTTGACAGAGAGAAGGAAGCACAGGCATAGCTAACTCTGCCGGTGAAGGAATTGCCTCTTACCTCTTTCCCCTTTCTCTCCAGATCCAGGAGGCCCTGCCTCACCACGAGGTCCCATGGGGCTTCTCGCCCTCTCTGGCCCATGGGGCCTTCCATGCCAGGATCTCCTAAAGACAGGGATGGCCAGCCTCCAAGTCAGGATCCCGTACCCCAGCTAACGGCTCCACAGGCAGCCTCCCACGGCAGACGCTTGCCTGGAGCCCTTCCCTGGCCTCCCTGCTTGCTTCTCTCCTGGACCCCATAGCCTTGGCTCAACCTGGAAGCCAGAGTGACCCTTTGAAAATGTGAGTAGATCATGTTCTACCTCTGCCCCAAACCTGCACATGGCTTCTCAACTCACCCAGAGTCAAAGCCAAAGTCCTTACACTGGCCTCTGAGGCCCCACACAGCCTGCCTCCTCTCGGCCCATCCCTTTGGACTTTCCAGCTCAGAGGTCTTCCCCTTCCTGATGCTCCTTAAAAATTGCCCTGGGGCCTGAGCCTTGGCCTTGGCTGCTCCCTCTGCCTGGAATGTTTTCCCTAGATCTCTCCTGCTTGGCTCCTTCTTGCCCTTCGAATCTTTGCTCAAATGGTGGCCTCTCAGGGAGGCCTTCCCTGGCTTCCCTGTGTAAAATTACTCTCCCCAGCTCTCATTCCCAAAATCCCTCCAGGCTCTCCTTTCCCATGTCGTGCATCACCCGTAAACTGCTATAGACTTCACTATTTCTCACAGTTACTGTCTTTCTCCCAAACCCAAATCTCAGCTCCACAACAGCAGGGTTTCTCTGTTTGGTTCACTGGTGTCTCTCCAGAGCCTAAAACAAGGCCTCACATACAGCAGGCACTTAATGAATGTTTATTAAATGAATGAAAGAATGAGGAATAAATGAATAAAGAAAAATGTGTTTCTTACCCACGCTGCCTTTTTGACCCTTTGGTCCTTGTGGACCTGGGTGGCCCAAGGGCCCAGGGATACCTGTGAACACACAAGGATATCTCAGCCCCTGTTTTCCTCCCAGAAGCCATCAGCTAGGATTGAGCAGCTGCAACACTGGCAGGCCTGGAGGTCATCAGAGAGTACATACCTGGAGTCCCAGGGAACCCTCGATCTCCTGCAGGAACAAAGGCAAAAGAGAGAGTGGTCAGCCAGAAGACTGTGCCCAATTCCCAAAGCAGTCACTAGTGGGATTCAGGTAGGGTTGCCAAACTTAGGAAATAAAAATGCAGATGTCCAGTTACATTTGAATTGCAGATAAACAACACATAGTTTTAGTTATAAGTATGTCCCATGAAATATTTGGGACAAGTTATAGTGAAAAATTATTTGTTGTTTATCTTCAAAGTTAACTGGGAGTCCTGTATTTTATCTGACAACTGCAGGTTCAGGTACTCTGGCAGTATCAGTCCCCACCACTAACATGGTCAGGAGGGGTGTGCGGGCTGGAGACTTGGGGAAGGAGGGCTGGGACAATGACCCAGGTATATGCGAGGGTGTGGGTGGCAAGGATCTGAAGGGAAAGAAGAGACTCGAGGGCCCCAAAGTGGAGGAGCTGACTTCCTGCCCTGGGGTTGCCTAGGGAGTGAGGAGGGAGCTGGAGAGAGGTGGGATCCTGTCATCTTGAACGTGGTGCTCAGTATTCTTCTGGCTGCAGAATCACCGTGGATGACTAAGATAAAGACTCCTGCCCACATGCATACCCCCTGAGTCAAAGGCTCGGGAAATGTGGCCCAAACTCTTTTGGAGATTCCTGTGCACAGGGAAGCTCGCCAATCCCGGTCAGCTGGACCAAGGAAAACTGCTCTGTGTCCAGCCAAAGGTCCCTGGGATTGGAAACCTCTCCTCCTCACACACCTGTCCCATCTGTTGTCAAATTACTTCTTGGAGTGCAAGGTGGGTTTTCTGACACTTGCTGATTGTTTGAAACAATTAACACTTGCTAATATTTAAGGTAAAAATGCCCATGTTATAATTACCTTTAGGGCCTGGACTTCCCATGTCACCTGAAACCAGAAAGATATGAAAACTGTGAGATGGGGCAAGAACCCAAAGGCCATACTCTGCCTTGTATTTTAAAACCATTTGACAAGATGTAAACTGTATTTCAAGGTGAGGCGACATGCGGCGAGTCCN
pathogenic
167,811
Evaluate this variant at chromosome 10, position 104074222, gene COL17A1 (collagen type XVII alpha 1 chain): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Amelogenesis_imperfecta_type_1A', 'COL17A1-related_disorder', 'Epidermolysis_bullosa,_junctional_4,_intermediate', 'Epithelial_recurrent_erosion_dystrophy', 'Inborn_genetic_diseases']
TGCTCTGACATTTCTGAGCTCTGGAAACAGGAAATCTAGGTGTGCCCAAGAAGAGTGCTGCTTAAAAAGGGAGACCTCCCTACCTCCAACAATTCCCCATCCTGCCAACTGCATACCTCCCAGGCAGCTGGAGATGTTCTAATAAAATTCCAGGCTGAGCAAGGAGGTTCCAGTACAATCAGCAATGGTCAATCCTTTCCCCATCATCCACCTCATGGCTGCCAGAACCAAGGTTCTCTCCTGCGTCCATGGTCTCAGGCATTGGCAAAAGATTCTAAAAGCCAGAGTGTTTACTTGCCATTTTGGCCTCTTCAGAGATGGGAGGGGCAGGAAGCTGGTAGCTAACATTATTAGTTAGCTTCAGGTGGAGAATTGGCATCTTTCAACTATCAGCCTAAAGTTGTGAGTGGTTGGCATACTCCTAACTTCCAAGTTATTGATGATAATAAGGCCCATAGGAAGTCTAGGTGGGTCATTGTGAAGAATTCTGCCTTCAGCTCAGCCCTAACATGCTGCCCCCTACCCTGCCCAAAGCTTAGCAAGGGCTGCTTCTCCCAGGACCACATTTCTCTCCTATATCATTGTCTACATGACTAGATTACAAAACTGTCATGGAGCTGTTTATCTCCTGGATGAATTTTGAAAAAAAATTTGGGGAGATTTTGCTCATCTTTTGACGTGTAAAGGCAATTAGAGCATATCTTGTTAAAGTCAGCCAGGAGACCAGAAGTGAAAGCAGATGTGGTATCTGCATCTTCAGATGATCCACAGCAAGACAAATGATGCCCCACATTGTTATCATGTGTTTTGCTTCCTGCCTCTACGTGCTTGTTAGATTACTGTCAAAAGCTACCCTTCCCCTCCCGATAGAGCCGGTGGAAGATTCCCAGGATACTCTAAGCTCCTCGAAAGCAGAAAGCATGCCTTATTTATTCTTCTGTACTCCTTACACTCCCTGGCTCAAGGCTGGACACACATTAACTTCTCAGAAAATACTTGTTGAATGAATTGGACTGAACCCAGTGACAGCACTCACCTCGTGTTTGACTCCGTCCTCTGGTTGAAGAAGATGCTGAGAAACAAAGAAATGCATTTTTAGGCATATATAAGAGGTGGCATGCTAAATACTTTTGACATGGAGGCAGATATATTTGGGGAGGGGTTACTTTCATAGTGTGTCTAAATCCAGATAGGGGCTTTTCTGTATAGCAGTTGCTTAATAAATGATGATCACTTAGCAACAGCAGAGAATGTTTTGCAATGCCCTAGTACATTTATGATGTTAAATTAGCTAAATGAATGTTAAGTTAGCTAACATTTTGAATGTTAAGTTAGCTAAGGTAATCTGTTGGGGAGCATGATCCATTTGGACTGGCTGACTACACTGATCAAATGTATCAAAAAGCTCCCAAGTCTTCCCTTTGATTTTTTATTCGAGACTGCCATGGTTTCCCCACTGTAAGCAAATACAGAAAATTATAATCACTGTATAACCAATGATCCTGGCATCAATTCATATGCACAGTGAGATTCCAAGAACATGGAACAAAAACTTAAGGCCAAGTGAAGACACAGCTTGGGGGTTCATGAAGCACACGCAGTTCCCTTGAAAGCAAGCAATAGTGGAGGTGCCGGGATGCCTGGCATTTGTGTGTTCTACTCGCTGCTCTGCTTCTTTGGGAGGCCTCTGTGCATCTCATGGAAAGAAGAATCCCTACAATTATTGCTTGGCCTTAGGGGCTTATCCATCCAAGCCTGAGCCTTATATATAGCTTACCATTTCTATAGTGCCACGAGCAAAGGCTTATGACAGCAAGTTAATGTGGCTGATAGTCCCCTTAATATGCTTCAGGATAAAAAGCAAGGGAAAAATAGGTCAGCAGGGGTCAAACTCTTTTAGAAGAATCCATTTAACTCATGAGGTCCCCTACTCCCACCACTTCATCTCCCCCAGGGATTTTCCTAGTGCCTCGTTTGACCATTTCTTTAGAAAATAAGGAGAGGACATACCAAATTCCTTCCGAGGGTACTCCGGAGAAGAGTTGCCACTGGAGCTCCCTGGAGAGGGGATGAAACACTTAGAACAAATGGCCTCTTAGGCCCATAAAGCTTCCAAAACGGGAGGTAGTGCCTGTTACTTATTTCTGGACCTCCACAGCCCTCAGTGTTTCAGGGGGGAATGAGGTATGCTCTTCAGCATGCATGTCAAAGGAGCCAGGCTCATGATGTAAAACACGACCCATCATGGCCCTGGTCGCAGCACTTTGCTCTGGTCAAGGACCTACTTCAGATGAGGCAGGGATGAACAAAGGAGAGCAGGAGGTTTTGGTTTCTTTCTTTTTTGTTCAGTTCCTCCACCGGCTTGTCCTGTGTCTGTCCTAGAGCAAGTGACCTGCCCTGATCAAGTAACCTGCCCTCAGCACCAGGAACCTCTCTGACCTTATGAGGCTTGTCCCAAACGTGGACCCAGTTAAAATGAAGGTACAAATCCCTGGTCAGGCCCGACCTCAGAAAGCACTGTGATGATGCAATCCACCTCACCTGGATTTGGGGCTTCCCAACAGCCCAGCAGCTCTTGTCCTGCAGCGGCAGGAGGGAGTCTGCTGTGCGTGTGGGATGCTAGCCCGCTGTGATCATTCACTAGAGTGTCTGGGCCTTACTCCTGCTTCTCCAACACCAGCACCAATCTCTTCTCACTGTTAAACTCCTTGGCCACCTGGCTGGTCAGTTTCCCACATAAAACTGCTTCTGCAGATCACCAGGAACTCCAGGAACCTTAGTAATGGAACTCAGGTGTCTTCTTCTACGACTCCTTCTTGACCCTGAGCACTCTCTTGTGTTGACCTCAGCATTGCTGTATGTTCCTGGTCTCCCCTTGTCCCTAAAAGACTCTTCCTCCTCTCTCTGTTCTCTGGCTTTTCTTTCTCCTTATTCCCTCCGCTTTACCTTCCTTTGCTTCCTTCAACTTTTATACTCTCTTTCTTGGCAAACTCCTTTAGTCTTCTGACTTCCTCTAACACCTCTTTGCGAATGGCTTCCACCTGGGTATCTGGGCCCTGACTTCTTCCCTGAACTCAAATCCTGCATCACCCACTGCCTGCTTGCTACCCTCGCCAGAGAGCTGGGCAAGTGGCTGTGCTTCAGGATGAATTAGCTGGATTCATCAAGTGGAGTCATCCATCTAATTCCCTGTTTCAGTTGTTGGCACCACCAAGAACCCAACCTGTGTGTGAAGCCTTCTCCTTACATTTAATCAATTGCCAAACCTGTCAATTCCACCTCAGTGATAACTTTCACTTCTAGCTCCTGACCTCCATCATTACCAACCTGGTCCCAGCCAAAATGTCCCTTCTCTGGATGACCGAGGATTTCTTTTTAACTTGTCACTGTGTTTAGTCTCTTTCTCACCAATTTTTCCAACACATGGCTTCCAGAGTTCCAGTCCTGGACCTAAAATATGATTGTTTTGCTAAAAACTCTCTGTGGCTTCCCATTGCATATGGAATAAAGTCTAAACATCTTATCCTAGCACTGAATCTGAGTCCCTCAAACCTTTTGCACGTAAGTACCACTGAATTTCCGACTTAAGCCCTGGGCTCTCCTGGCTGTCTTTGCTTATGCTGCTGCTCCCACAGCTTGGACAGTCCCATCTCTCCATCTTTGGGTATCAAACTCTTACTCGTCATGAGGACCTCGCTCAGATGTCCCCTCCTCCATAGAATTTTCCCCGATTTCCTCAGCTTAAAGTGATAATCTCCATCTACTTTATACAATTGTATTTTATCTGTCATCTTAACTTGTCTATTAGACTACAGGTCCTGAAGACAAGATCTATGTCTGATTCATTTAAGCATTCGTCAAGGCATTCTACACAGTGTTAAACGCATAGCAGGTACTGGATAAAATACTAGTTGGAAAAGTAACTAAATGGGTGAATGAATAAATAAATGAGGTAGTGAATGAATGAATGAAGTCTTCAAGTAATGGAAGTCCATAAAAGAAATGAAGGAGGAGTGGGGAGAAAGGTGAAGGGCAGACACAGGTGGCCAGCATGTAAATCTTCAAAGAATGAGTGAAGTTGCTTGGGGAAGAGAAT
TGCTCTGACATTTCTGAGCTCTGGAAACAGGAAATCTAGGTGTGCCCAAGAAGAGTGCTGCTTAAAAAGGGAGACCTCCCTACCTCCAACAATTCCCCATCCTGCCAACTGCATACCTCCCAGGCAGCTGGAGATGTTCTAATAAAATTCCAGGCTGAGCAAGGAGGTTCCAGTACAATCAGCAATGGTCAATCCTTTCCCCATCATCCACCTCATGGCTGCCAGAACCAAGGTTCTCTCCTGCGTCCATGGTCTCAGGCATTGGCAAAAGATTCTAAAAGCCAGAGTGTTTACTTGCCATTTTGGCCTCTTCAGAGATGGGAGGGGCAGGAAGCTGGTAGCTAACATTATTAGTTAGCTTCAGGTGGAGAATTGGCATCTTTCAACTATCAGCCTAAAGTTGTGAGTGGTTGGCATACTCCTAACTTCCAAGTTATTGATGATAATAAGGCCCATAGGAAGTCTAGGTGGGTCATTGTGAAGAATTCTGCCTTCAGCTCAGCCCTAACATGCTGCCCCCTACCCTGCCCAAAGCTTAGCAAGGGCTGCTTCTCCCAGGACCACATTTCTCTCCTATATCATTGTCTACATGACTAGATTACAAAACTGTCATGGAGCTGTTTATCTCCTGGATGAATTTTGAAAAAAAATTTGGGGAGATTTTGCTCATCTTTTGACGTGTAAAGGCAATTAGAGCATATCTTGTTAAAGTCAGCCAGGAGACCAGAAGTGAAAGCAGATGTGGTATCTGCATCTTCAGATGATCCACAGCAAGACAAATGATGCCCCACATTGTTATCATGTGTTTTGCTTCCTGCCTCTACGTGCTTGTTAGATTACTGTCAAAAGCTACCCTTCCCCTCCCGATAGAGCCGGTGGAAGATTCCCAGGATACTCTAAGCTCCTCGAAAGCAGAAAGCATGCCTTATTTATTCTTCTGTACTCCTTACACTCCCTGGCTCAAGGCTGGACACACATTAACTTCTCAGAAAATACTTGTTGAATGAATTGGACTGAACCCAGTGACAGCACTCACCTCGTGTTTGACTCCGTCCTCTGGTTGAAGAAGATGCTGAGAAACAAAGAAATGCATTTTTAGGCATATATAAGAGGTGGCATGCTAAATACTTTTGACATGGAGGCAGATATATTTGGGGAGGGGTTACTTTCATAGTGTGTCTAAATCCAGATAGGGGCTTTTCTGTATAGCAGTTGCTTAATAAATGATGATCACTTAGCAACAGCAGAGAATGTTTTGCAATGCCCTAGTACATTTATGATGTTAAATTAGCTAAATGAATGTTAAGTTAGCTAACATTTTGAATGTTAAGTTAGCTAAGGTAATCTGTTGGGGAGCATGATCCATTTGGACTGGCTGACTACACTGATCAAATGTATCAAAAAGCTCCCAAGTCTTCCCTTTGATTTTTTATTCGAGACTGCCATGGTTTCCCCACTGTAAGCAAATACAGAAAATTATAATCACTGTATAACCAATGATCCTGGCATCAATTCATATGCACAGTGAGATTCCAAGAACATGGAACAAAAACTTAAGGCCAAGTGAAGACACAGCTTGGGGGTTCATGAAGCACACGCAGTTCCCTTGAAAGCAAGCAATAGTGGAGGTGCCGGGATGCCTGGCATTTGTGTGTTCTACTCGCTGCTCTGCTTCTTTGGGAGGCCTCTGTGCATCTCATGGAAAGAAGAATCCCTACAATTATTGCTTGGCCTTAGGGGCTTATCCATCCAAGCCTGAGCCTTATATATAGCTTACCATTTCTATAGTGCCACGAGCAAAGGCTTATGACAGCAAGTTAATGTGGCTGATAGTCCCCTTAATATGCTTCAGGATAAAAAGCAAGGGAAAAATAGGTCAGCAGGGGTCAAACTCTTTTAGAAGAATCCATTTAACTCATGAGGTCCCCTACTCCCACCACTTCATCTCCCCCAGGGATTTTCCTAGTGCCTCGTTTGACCATTTCTTTAGAAAATAAGGAGAGGACATACCAAATTCCTTCCGAGGGTACTCCGGAGAAGAGTTGCCACGGAGCTCCCTGGAGAGGGGATGAAACACTTAGAACAAATGGCCTCTTAGGCCCATAAAGCTTCCAAAACGGGAGGTAGTGCCTGTTACTTATTTCTGGACCTCCACAGCCCTCAGTGTTTCAGGGGGGAATGAGGTATGCTCTTCAGCATGCATGTCAAAGGAGCCAGGCTCATGATGTAAAACACGACCCATCATGGCCCTGGTCGCAGCACTTTGCTCTGGTCAAGGACCTACTTCAGATGAGGCAGGGATGAACAAAGGAGAGCAGGAGGTTTTGGTTTCTTTCTTTTTTGTTCAGTTCCTCCACCGGCTTGTCCTGTGTCTGTCCTAGAGCAAGTGACCTGCCCTGATCAAGTAACCTGCCCTCAGCACCAGGAACCTCTCTGACCTTATGAGGCTTGTCCCAAACGTGGACCCAGTTAAAATGAAGGTACAAATCCCTGGTCAGGCCCGACCTCAGAAAGCACTGTGATGATGCAATCCACCTCACCTGGATTTGGGGCTTCCCAACAGCCCAGCAGCTCTTGTCCTGCAGCGGCAGGAGGGAGTCTGCTGTGCGTGTGGGATGCTAGCCCGCTGTGATCATTCACTAGAGTGTCTGGGCCTTACTCCTGCTTCTCCAACACCAGCACCAATCTCTTCTCACTGTTAAACTCCTTGGCCACCTGGCTGGTCAGTTTCCCACATAAAACTGCTTCTGCAGATCACCAGGAACTCCAGGAACCTTAGTAATGGAACTCAGGTGTCTTCTTCTACGACTCCTTCTTGACCCTGAGCACTCTCTTGTGTTGACCTCAGCATTGCTGTATGTTCCTGGTCTCCCCTTGTCCCTAAAAGACTCTTCCTCCTCTCTCTGTTCTCTGGCTTTTCTTTCTCCTTATTCCCTCCGCTTTACCTTCCTTTGCTTCCTTCAACTTTTATACTCTCTTTCTTGGCAAACTCCTTTAGTCTTCTGACTTCCTCTAACACCTCTTTGCGAATGGCTTCCACCTGGGTATCTGGGCCCTGACTTCTTCCCTGAACTCAAATCCTGCATCACCCACTGCCTGCTTGCTACCCTCGCCAGAGAGCTGGGCAAGTGGCTGTGCTTCAGGATGAATTAGCTGGATTCATCAAGTGGAGTCATCCATCTAATTCCCTGTTTCAGTTGTTGGCACCACCAAGAACCCAACCTGTGTGTGAAGCCTTCTCCTTACATTTAATCAATTGCCAAACCTGTCAATTCCACCTCAGTGATAACTTTCACTTCTAGCTCCTGACCTCCATCATTACCAACCTGGTCCCAGCCAAAATGTCCCTTCTCTGGATGACCGAGGATTTCTTTTTAACTTGTCACTGTGTTTAGTCTCTTTCTCACCAATTTTTCCAACACATGGCTTCCAGAGTTCCAGTCCTGGACCTAAAATATGATTGTTTTGCTAAAAACTCTCTGTGGCTTCCCATTGCATATGGAATAAAGTCTAAACATCTTATCCTAGCACTGAATCTGAGTCCCTCAAACCTTTTGCACGTAAGTACCACTGAATTTCCGACTTAAGCCCTGGGCTCTCCTGGCTGTCTTTGCTTATGCTGCTGCTCCCACAGCTTGGACAGTCCCATCTCTCCATCTTTGGGTATCAAACTCTTACTCGTCATGAGGACCTCGCTCAGATGTCCCCTCCTCCATAGAATTTTCCCCGATTTCCTCAGCTTAAAGTGATAATCTCCATCTACTTTATACAATTGTATTTTATCTGTCATCTTAACTTGTCTATTAGACTACAGGTCCTGAAGACAAGATCTATGTCTGATTCATTTAAGCATTCGTCAAGGCATTCTACACAGTGTTAAACGCATAGCAGGTACTGGATAAAATACTAGTTGGAAAAGTAACTAAATGGGTGAATGAATAAATAAATGAGGTAGTGAATGAATGAATGAAGTCTTCAAGTAATGGAAGTCCATAAAAGAAATGAAGGAGGAGTGGGGAGAAAGGTGAAGGGCAGACACAGGTGGCCAGCATGTAAATCTTCAAAGAATGAGTGAAGTTGCTTGGGGAAGAGAATN
pathogenic
167,854
Evaluate the clinical significance of the mutation at chromosome 10, position 110577501 in gene SMC3 (structural maintenance of chromosomes 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
benign
ATAAATTTTCCATGCTGGTTAAAAAAGCATTTGTTCAAGTTTCAGATTCTTTGTGAACAAGACACAATCTTTCTCATAAGTGTGTTACTCTGCTGTGAAATTTAGCCTAACATATTAATGCCAGATAAAAGCCCAATTTTTATACAGTGGTTTAGGAGAAAATTATAGGATTTGCCTATAGATGGATATGTCCTCCATATAAATGTCTTAAAGGAGACATGATATATATCATAAGTGTTTTATTCTGCTGTGAAATTTAGCCTAACATGTTAATGCCAGATAAAGGCCTAATTTTTATGTGATGGTTAGGAGAAAATTATAGGATTTGCCTATAGGTGGGTATGTCCTCCATGTACATTTCTTTAAGGATGTGATCTGCAAAGGCTTAAGAAGCAGGTTTGCTGAGGAGAAAGAAGAGTTTGAGGTTGCAGATTAGGAACTTTAAGATGCAGAACCAAAAATTAATTGGGAACATAGAGAAACAACCATTGCAAACTAAACAACATACAAGTTGTTTGTTGTTTTAGCCATATTTGTACTTAGATAGTAAACATCATTTTCCAGTATGAAAAACAGTAGAGATGTTCTGCAACTTACAGCGGGGTTATGTCCTAATAAACCTATCATAAACTGAAAATACCATAAGTCAAAAATGGACATTAGCCTACAGTTGAGCAAAATGATCTAACACAAAAGTCTGTTTTATAATAAAGTGTTGAATCTGTCATATAATTTATTGAATACTATGCTGAAAGTAAAAAACAGTGATTTTATGGATACTCAAATTATGGTTTCTACTGAATGTAGACTGCTATCACGTTGTCATTCAGCCATTTGTTGAACCATCGTAAGTTGGGGACCACCTGTATATTTACAGTAATGTGAGTTAGGATATTTTATTAAGTGGGTCCTTTTGTAATGCATAAGCACGATGATTGGGTTTTCGTGTTCATGTGAGTCATGCCTCCCTCAAACCTTGTTAGGACATTGGCACATTACCAATGTGATGTGGAAAAAAATATGAGTAATGGACTAAAGTAATTTTAGGATAGAAAATCATGAAAGACTACAATAAAACGATTAATCCTTCTGATTTGAATATTGTTTATTAAAGACTAGAAAATGAAATTCCTCAACATGTCTTAACAGTGTTTCTCACACATAGGAAATTGTTTTGTTTAGCTCTTGTCTGTCTTTTCCCCTTGTTTAGTTTGAATTTGTAGCCCAGTAATCAGAATTGATTTCCTTTAGAAAAATTCTTTTTAGGTTTTTCAGATTGGCATTAAAATAATTAATAACCTCTTTGGTACAGTTCTTCATTGTATTTACTACATAGTTTCTATAATCTGGAAGGTATCTGGACTTGGTACCATAGTTTTTGTGTCATAGATTGGTTTAAATGTGACACATGTTAAATGTGTATATTTCTATAATAGATTTAAAACTGTAGAATGTCTCAATTTTTCTTAAAAAACAGACTTTTGGTAATTATCCCATGATTTATTAGGATTTCTTTGCAGCATTAAAATGAGACTGTAAGAGAAAAGCCTCATGGTGTATTAGATATTAGCAAATAGGTAGAGTTAAATGTCCCCAGTCTTGCAGTCTAATAAAGTGGTCTGTAGAATCATATTTAAGGATATCTAACTTTGACATGTCTTGCATAGCTCTTATTTTTTATTTAGAATCAAAAGCTATTTGGTTGAGAAGTTTTGTTGTCCTAATCTAACGTCTCTGCTGTTTTGGCAAGAGGGATATATACTATAACTCTGGGGATATCCCCAAAGTATGTATCCCTCTTGCCAAAAGAGCAGAGACGTTAGATTAGTGTGTGTGTGTATATATGAATCTAGCAGAAATTTTTCTCCATTGAATCAGACTTGTTATTATGCCCTAGACTTTAAGAATCCTTTAAAGGATATGAATATACAACTTAAATGGCAAATTTCTCACTTCTTTCATTTTTAGGAAGGTACTGGTCCTCGTGTTATTTCTGCTTTTGTGGAGATTATTTTTGATAATTCAGACAACCGGTTACCAGTAAGTAACTTTTTTTTTAAAGTAATGTTGAGAATTTAATTGGTTTAGCTGATTTTCTTCATACTTTGAAACTTTTTAAGCTTTTATAATTTGTTATAATTACAGTTTATATACTGATTTTATCTTAAAATGACAATGAATACTCTGTTAACAAATGGGAATGTACAAACTGTTGTGAAAAGTGTCTTGGTTAAGAGTATTGAGTATTTGTAGTATTATTTTTAGTGAGATAATTGAAATTTTAAAATAAATACTTATGGGCAAGGACTTTAAAATGACCTTATTTAAAAAGTTTTCTCCTTTACTATTAAATTAACTGTGGGCTTTTACATTTTTTCTTAGATCGATAAAGAGGAAGTTTCACTTCGAAGAGTTATTGGTGCCAAAAAGGATCAGTATTTCTTAGACAAGAAGATGGTCACGTAAGCATTTTTCTTTTTTTTAAAAAAACTGAATATGTACTTAAATAGAGATGGGGTATTGCTGTGTTGGCCAGGTTGGTCTCGAACTCTTGGCCTCAAATGATCCACCTCGGCTTCCTAAAGTGCTAGGATTACAGACATGAGCCACCACGCCCAGCCAGCATTTTTCTTTTTCTCAATACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAGTCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCTATTCTGCTGCCTCAGCCTTCTGAGTAGCTGGGATTGCAGGCAGTCACCACCACACCCGGCTACTTTTTGTATTCTTAGTAGAGACGGGGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCTTGACCTTGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACTGCGCCCAGCCCGCAATTTTATGATTTCCTTACAAAAGAGTAAAAAGTATTCTTTTACCTGCTTCATATATGAGGAATATTTGCTTCATCTTCAACAAGTCAACATATAGAGGATAAACATAAGAATCAGAAAGTTCTGAGGATGATACAGATGGTTTAATTACTGATCTTTCCTCCCTAATGCTATCAACCAAGGGGCTACTCTACTCATTGCTTAATGGTGCTTTAAAATTATTTATCGGAAAGTAATTTCATTGTTTGTCAACAGGAAAAATGATGTGATGAACCTCCTTGAAAGCGCTGGTTTTTCTCGAAGCAATCCTTATTATATTGTTAAACAAGGAAAGGTAAAACAATTGTATGTCCTTTTTAAGTAGAATTTGTTTTCTGAGTAATTCTTGAGTGATGAATTTGGTTTATTGATTTGAGTGGTTAAGCTGAAGCAAAAATGGCCATATTCTTTTACATGGCCATAAAGTACCAAATAGGTCCATTGCATGTTGAGATGGAAGTATTTCAGCATATTAAGTGGATCTTGTTTTCCTAGTGACTGGTATTACTTACTGAGGTGAAAGTATGGGAAGACATTATTGGCTTATGAATGTTGCAATAATTAAGAATATTGTAGGAATTCTATAAAAATCACATTTGAAAAACTTTCTAAAATTAATATTTTGTGTTACCTAATTATTTATCACAATTAAAATACTGAAAAGCTAACATTACCAGAAATCTGCCATTTTGCCACATGTTATTTTCCCTAATAGGGATTATGTTTTTACATTTTTTCAGCAGCCAAACTACAAACTTTTTTAGCTGATTGTTCTGCTCTCTTCTCATATACTTTCACTTTTTTTTTGGACTAGGGAAAATTCTCAAAGAATATTCACTTATTTTATACTGTAGGCCTTTTTTTCTAGATATGTATTGGAAAGTTAGCATTTAGAAGAAGTGATTAGGAAGAATATGGAGTTTCAGTTTTAGAAAATGTGTTACTGGAAGAACACGTTTTTTTCCGATTTAACTATTTGTGGGAGATAAATTTTTTTAAATGGAGGCTGATTTGAAAGAGCACTTTTCTGAGATCCGTCTGCTGTCAATCTAGGCCCTTTTACTTCATTTCAGTTTCTGCCCGTATGCCATCCTTGATTGCCTCATCTGAAAGCATTGCCGTCCCCTCAACCCTATG
ATAAATTTTCCATGCTGGTTAAAAAAGCATTTGTTCAAGTTTCAGATTCTTTGTGAACAAGACACAATCTTTCTCATAAGTGTGTTACTCTGCTGTGAAATTTAGCCTAACATATTAATGCCAGATAAAAGCCCAATTTTTATACAGTGGTTTAGGAGAAAATTATAGGATTTGCCTATAGATGGATATGTCCTCCATATAAATGTCTTAAAGGAGACATGATATATATCATAAGTGTTTTATTCTGCTGTGAAATTTAGCCTAACATGTTAATGCCAGATAAAGGCCTAATTTTTATGTGATGGTTAGGAGAAAATTATAGGATTTGCCTATAGGTGGGTATGTCCTCCATGTACATTTCTTTAAGGATGTGATCTGCAAAGGCTTAAGAAGCAGGTTTGCTGAGGAGAAAGAAGAGTTTGAGGTTGCAGATTAGGAACTTTAAGATGCAGAACCAAAAATTAATTGGGAACATAGAGAAACAACCATTGCAAACTAAACAACATACAAGTTGTTTGTTGTTTTAGCCATATTTGTACTTAGATAGTAAACATCATTTTCCAGTATGAAAAACAGTAGAGATGTTCTGCAACTTACAGCGGGGTTATGTCCTAATAAACCTATCATAAACTGAAAATACCATAAGTCAAAAATGGACATTAGCCTACAGTTGAGCAAAATGATCTAACACAAAAGTCTGTTTTATAATAAAGTGTTGAATCTGTCATATAATTTATTGAATACTATGCTGAAAGTAAAAAACAGTGATTTTATGGATACTCAAATTATGGTTTCTACTGAATGTAGACTGCTATCACGTTGTCATTCAGCCATTTGTTGAACCATCGTAAGTTGGGGACCACCTGTATATTTACAGTAATGTGAGTTAGGATATTTTATTAAGTGGGTCCTTTTGTAATGCATAAGCACGATGATTGGGTTTTCGTGTTCATGTGAGTCATGCCTCCCTCAAACCTTGTTAGGACATTGGCACATTACCAATGTGATGTGGAAAAAAATATGAGTAATGGACTAAAGTAATTTTAGGATAGAAAATCATGAAAGACTACAATAAAACGATTAATCCTTCTGATTTGAATATTGTTTATTAAAGACTAGAAAATGAAATTCCTCAACATGTCTTAACAGTGTTTCTCACACATAGGAAATTGTTTTGTTTAGCTCTTGTCTGTCTTTTCCCCTTGTTTAGTTTGAATTTGTAGCCCAGTAATCAGAATTGATTTCCTTTAGAAAAATTCTTTTTAGGTTTTTCAGATTGGCATTAAAATAATTAATAACCTCTTTGGTACAGTTCTTCATTGTATTTACTACATAGTTTCTATAATCTGGAAGGTATCTGGACTTGGTACCATAGTTTTTGTGTCATAGATTGGTTTAAATGTGACACATGTTAAATGTGTATATTTCTATAATAGATTTAAAACTGTAGAATGTCTCAATTTTTCTTAAAAAACAGACTTTTGGTAATTATCCCATGATTTATTAGGATTTCTTTGCAGCATTAAAATGAGACTGTAAGAGAAAAGCCTCATGGTGTATTAGATATTAGCAAATAGGTAGAGTTAAATGTCCCCAGTCTTGCAGTCTAATAAAGTGGTCTGTAGAATCATATTTAAGGATATCTAACTTTGACATGTCTTGCATAGCTCTTATTTTTTATTTAGAATCAAAAGCTATTTGGTTGAGAAGTTTTGTTGTCCTAATCTAACGTCTCTGCTGTTTTGGCAAGAGGGATATATACTATAACTCTGGGGATATCCCCAAAGTATGTATCCCTCTTGCCAAAAGAGCAGAGACGTTAGATTAGTGTGTGTGTGTATATATGAATCTAGCAGAAATTTTTCTCCATTGAATCAGACTTGTTATTATGCCCTAGACTTTAAGAATCCTTTAAAGGATATGAATATACAACTTAAATGGCAAATTTCTCACTTCTTTCATTTTTAGGAAGGTACTGGTCCTCGTGTTATTTCTGCTTTTGTGGAGATTATTTTTGATAATTCAGACAACCGGTTACCAGTAAGTAACTTTTTTTTTTAAAGTAATGTTGAGAATTTAATTGGTTTAGCTGATTTTCTTCATACTTTGAAACTTTTTAAGCTTTTATAATTTGTTATAATTACAGTTTATATACTGATTTTATCTTAAAATGACAATGAATACTCTGTTAACAAATGGGAATGTACAAACTGTTGTGAAAAGTGTCTTGGTTAAGAGTATTGAGTATTTGTAGTATTATTTTTAGTGAGATAATTGAAATTTTAAAATAAATACTTATGGGCAAGGACTTTAAAATGACCTTATTTAAAAAGTTTTCTCCTTTACTATTAAATTAACTGTGGGCTTTTACATTTTTTCTTAGATCGATAAAGAGGAAGTTTCACTTCGAAGAGTTATTGGTGCCAAAAAGGATCAGTATTTCTTAGACAAGAAGATGGTCACGTAAGCATTTTTCTTTTTTTTAAAAAAACTGAATATGTACTTAAATAGAGATGGGGTATTGCTGTGTTGGCCAGGTTGGTCTCGAACTCTTGGCCTCAAATGATCCACCTCGGCTTCCTAAAGTGCTAGGATTACAGACATGAGCCACCACGCCCAGCCAGCATTTTTCTTTTTCTCAATACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAGTCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCTATTCTGCTGCCTCAGCCTTCTGAGTAGCTGGGATTGCAGGCAGTCACCACCACACCCGGCTACTTTTTGTATTCTTAGTAGAGACGGGGTTTCACCATGTTGGCAGGCTGGTCTCGAACTCTTGACCTTGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTAGAGGCATGAGCCACTGCGCCCAGCCCGCAATTTTATGATTTCCTTACAAAAGAGTAAAAAGTATTCTTTTACCTGCTTCATATATGAGGAATATTTGCTTCATCTTCAACAAGTCAACATATAGAGGATAAACATAAGAATCAGAAAGTTCTGAGGATGATACAGATGGTTTAATTACTGATCTTTCCTCCCTAATGCTATCAACCAAGGGGCTACTCTACTCATTGCTTAATGGTGCTTTAAAATTATTTATCGGAAAGTAATTTCATTGTTTGTCAACAGGAAAAATGATGTGATGAACCTCCTTGAAAGCGCTGGTTTTTCTCGAAGCAATCCTTATTATATTGTTAAACAAGGAAAGGTAAAACAATTGTATGTCCTTTTTAAGTAGAATTTGTTTTCTGAGTAATTCTTGAGTGATGAATTTGGTTTATTGATTTGAGTGGTTAAGCTGAAGCAAAAATGGCCATATTCTTTTACATGGCCATAAAGTACCAAATAGGTCCATTGCATGTTGAGATGGAAGTATTTCAGCATATTAAGTGGATCTTGTTTTCCTAGTGACTGGTATTACTTACTGAGGTGAAAGTATGGGAAGACATTATTGGCTTATGAATGTTGCAATAATTAAGAATATTGTAGGAATTCTATAAAAATCACATTTGAAAAACTTTCTAAAATTAATATTTTGTGTTACCTAATTATTTATCACAATTAAAATACTGAAAAGCTAACATTACCAGAAATCTGCCATTTTGCCACATGTTATTTTCCCTAATAGGGATTATGTTTTTACATTTTTTCAGCAGCCAAACTACAAACTTTTTTAGCTGATTGTTCTGCTCTCTTCTCATATACTTTCACTTTTTTTTTGGACTAGGGAAAATTCTCAAAGAATATTCACTTATTTTATACTGTAGGCCTTTTTTTCTAGATATGTATTGGAAAGTTAGCATTTAGAAGAAGTGATTAGGAAGAATATGGAGTTTCAGTTTTAGAAAATGTGTTACTGGAAGAACACGTTTTTTTCCGATTTAACTATTTGTGGGAGATAAATTTTTTTAAATGGAGGCTGATTTGAAAGAGCACTTTTCTGAGATCCGTCTGCTGTCAATCTAGGCCCTTTTACTTCATTTCAGTTTCTGCCCGTATGCCATCCTTGATTGCCTCATCTGAAAGCATTGCCGTCCCCTCAACCCTAT
benign
167,914
Clinical significance of chromosome 10, position 110581915, gene SMC3 (structural maintenance of chromosomes 3): benign or pathogenic? Name the disease(s) if pathogenic.
benign
GATATCATTTTTGACATTTAGGGATACTTGTTATATATTAAGTTGCATGGCACTTAAGTTGTACCATTCTCTCTATATTTAAAGCATACCATTTTTGTCATATCATTAGCCTTCTGTATCTGTAGGTTCCACATCTGCAAGTTCAGCCAACCATGGATCAAAAATATTTAAAATAAATAAAATTTTAAAACAGTACAATAAGAAATAATACAAATTTAAAAATACAGTAAAACTATTTACATAGCATTTACATTGTATTATTATAATTAATCTAGATATTAAAGTATATGGAAGGATGTGCATAGGTTATATGCAAATACTATGCCATTTTATATAAGGGACTTGAGCATCCTTGGATTTTGGTACCTGCAGGGGGTCCTAGAACCAATCCCCATGGAAACTGAGGAAGAATTGACTTTTAATATATTATTGTAGCTTTAAAAAAAAGTGTAGTCAGTGATGGTTTTCCCTTATAAAAATACTTTGTTTTTTGAGAATGGAGCTCATCTTTTATACCTTATCATATTGACTAAGAAAAAGATGGTGGTGTGAGATACTCCTTCACTTGTTAGCCCTATTCATAAAGGAGAGTTATGACCGTAACAGTTGTATTTGGATTTTATTTGGTAAATTTCATTTAAGTAAAGGAGACATAGATATGTAGGCATGCGTACTATACAAATGACATTAGCCAAATCATAATCTGTTTAAAACTTGGCATGTCCCAAATTCAAAAGTCTGAAATACAGAATGCTCTACAATCTGAAACCTTTCGAGTGTGGACATGACATTCAAAGGAAATGCTTGTTGGAACATTTTGGATTTCAAATTTTTGGATTTGGGTTGCTCATCTGGTAAGTATAAATGCAAATATTCCAAAACTTGAAAAAATCTAAAATCTGTAACACTTCTGGTTTCTAACCATTTTGCATAAGGGATACCCAACCTTCATGTGTATTAAAAACCTTTCAACGTGGAGTTCTTCTTCTTAAACGGAGGCTACAGCTATGTAATGATTATTTTTCTAAAAATTTTAGATCAACCAGATGGCAACAGCACCAGATTCTCAGAGATTAAAGCTATTAAGAGAAGTAGCTGGTACTAGAGTGTATGACGAACGAAAGGAAGAAAGCATCTCCTTAATGAAAGAAACAGGTAAAATAAATGTGATTCTGCCTTATTTTTTTGTTGCAAATTACTGTTTTTGTGACAGAGTGGCTCCATGATGGGAATATAGTAGGTGTTTAGTATATGACAGCATTAGATAATGCTGTTATTAATAAAAATTGAGAATCCATAACACCAATGATGTTAGTAGCTTTTAAAAATATTGTGGAAACGCACACTGACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTTATTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATACTCAGTTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGATCTCGAACTCCTGACTTCAGATGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTACTCATGAGCCACTGCGCCTGGCCGGCACACTGACTTTTTAAAAGGAAGCTTAAACTGAGGCCCTTACTACATGTTATAAAAGAACCAGTGTCACCATGTGTAAATTTGTTCTCTGGTGCTTTTCATAATAAAGGATCTTAACCCATTTATGCCTAGCATTCCATTATTGGAATCCTAAGCTTGTGGATGTTACTTATATTCTACTGCTCAAGGTCATTGCCAAGGTCTGATTTTTCACAGAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAATTGCTATTTTAGTATTTTAAATTGGGTTACCACATCACATCAAAGAAATAATGCTACAGTTCTTAAAAATAATTTAATTCAAGGTATATTTAAGAAGTGATATTACATAAAAATCTTATTCAATTCTTCCACCTCTCTCCCCATTTCTTTTAAGAGGGCAAACGGGAAAAAATCAATGAGTTGTTAAAATACATTGAAGAGAGATTACATACTCTAGAGGAAGAAAAGGAAGAACTAGCTCAGTATCAGAAGTGGGATAAAATGAGACGAGCCCTGGAATATACCATTTACAATCAGGAACTTAACGAGACTCGTGCCAAACTTGATGAGGTAAAATATTTACCTGTGACACTTAAAATCAGATTAATTTTGTTTTTATGAATTTGTTAAACTCAGGCCATAATTACACTTTTCAGTGATTTTAAATAGAAACTTAAAAAAAACCTCTCAATGAATTTATTAGTCAGCAAGTTTTTTTAGTTCAAGGAAATTAGCCATGTGGTCCTTGCTATATAGTATTATCTGAAATATAATCAGATGGTGGTATTAGGCAGACAAGATGAGAGGAAAGCCATTTTGAAGGCTTCTTGTAGTTGTAGTATATCCTAAACTACACATTTTGTACAAAAATTTAGTGCTTCAGTTTTCTAGTTTAAAATCATTTTTAAAATTTTTGTAGAAAATTTGAGCAGTTACTTTTGGTTTATTTTAATAGAAAAATTTTTATTAGATGTTATGAAATATTTAGTAATTACAAAATGAGTTAGATATGATAAGTTGTTTTTTTTCTTAGCTTTCTGCTAAGCGAGAGACTAGTGGAGAAAAATCCAGACAATTAAGAGATGCTCAGCAGGATGCAAGAGATAAAATGGAGGTAAGATTATAAACAAGGTTCATGTTAACTTACTTTTTACTTTTGAGACAGGGTCTTGTTCTGTCATCCAGGCTGGAGTACAGTGGTGCCATCATGGCTCATTGTAGCCTTGACTTCCTGGGCTCAGGCAATCCTCTTGCCGCAGCTTCCTGAATAGCTGGAGCACAGGTGTGTACCACCACACCTGTCTAGTTTTTAAATATATTGTAGAGACAAGGTCTTACCATGTTGCCCAGGCTGGTCACAAACTCCTGGGCTCAAGTGGTCCTTCTGCCTCAGCCTCCTGAAGTTTTTTTTTTTTTTTTGGAAGACAGGGTCTCACTCCATTGCACAGGCTGGAGTGCAGTGGTGAGATCACAGCTCACTGCAGCCTTGATCTCTCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTATTTTTGTTATTTTTTGAAGAGATGGAATCTCAGTATGTTGCCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGAGTCCTCCCACCTGGGCCTCCCAAAGTGCTGAGTTTACAGGCATGAGCAACCATGTCCAGCCATCGTATGTTTTTGACCATAGTAAACCCTTTTGTACCAGAATTATGGAATGATTACACAAGGGAGAGTTAGAGGAATTGAATATTGAAAGGACAGAGTATTACTAAACATTAAGTGAAAGAGAATTAATGGTGTCACAATTCTGCTATTGTACTTCTAATTGCCTTATTTTCTGTTTAATACTTTTGAATAGGATATCGAACGCCAAGTTAGAGAATTGAAAACAAAAATTTCAGCTATGAAAGAAGAAAAAGAACAGCTTAGTGCTGAAAGACAAGAGCAGATTAAGCAGAGGACTAAGTTGGAGCTTAAAGCCAAGGATTTACAAGATGAACTAGCAGGCAATAGTGAACAAAGGGTAAGTTAAAATGCTAAAAATGAAAGATGTGAATGTTCAGGTGAGTAGCAACTGTAGAAGACAGCCCTTTCTGTGACTGGTGTGTGTTGGAATTTTTTTTTAAGCTTTGCTACGTTAGCATAATTTGTACTCAAGTAACAACTTGGTACTGTCCCTTTGTTTCTTACATTAAAAAAGAGTTTCATGTTACAGGTGGGTTTTCTCATGAAGTTTTTTTCCTGAGAAAACATTTATGCTAGACCTAAATTATGCAAAAAATTTAAAGCAGTTTGCATTTTTACTTTGTTTACAGAAACGTTTATTAAAAGAGAGGCAGAAGCTGCTTGAAAAAATAGAAGAAAAGCAGAAAGAACTGGCAGAAACAGAACCCAAATTCAACAGTGTGAAAGAGAAAGAAGAACGAGGAATTGCTAG
GATATCATTTTTGACATTTAGGGATACTTGTTATATATTAAGTTGCATGGCACTTAAGTTGTACCATTCTCTCTATATTTAAAGCATACCATTTTTGTCATATCATTAGCCTTCTGTATCTGTAGGTTCCACATCTGCAAGTTCAGCCAACCATGGATCAAAAATATTTAAAATAAATAAAATTTTAAAACAGTACAATAAGAAATAATACAAATTTAAAAATACAGTAAAACTATTTACATAGCATTTACATTGTATTATTATAATTAATCTAGATATTAAAGTATATGGAAGGATGTGCATAGGTTATATGCAAATACTATGCCATTTTATATAAGGGACTTGAGCATCCTTGGATTTTGGTACCTGCAGGGGGTCCTAGAACCAATCCCCATGGAAACTGAGGAAGAATTGACTTTTAATATATTATTGTAGCTTTAAAAAAAAGTGTAGTCAGTGATGGTTTTCCCTTATAAAAATACTTTGTTTTTTGAGAATGGAGCTCATCTTTTATACCTTATCATATTGACTAAGAAAAAGATGGTGGTGTGAGATACTCCTTCACTTGTTAGCCCTATTCATAAAGGAGAGTTATGACCGTAACAGTTGTATTTGGATTTTATTTGGTAAATTTCATTTAAGTAAAGGAGACATAGATATGTAGGCATGCGTACTATACAAATGACATTAGCCAAATCATAATCTGTTTAAAACTTGGCATGTCCCAAATTCAAAAGTCTGAAATACAGAATGCTCTACAATCTGAAACCTTTCGAGTGTGGACATGACATTCAAAGGAAATGCTTGTTGGAACATTTTGGATTTCAAATTTTTGGATTTGGGTTGCTCATCTGGTAAGTATAAATGCAAATATTCCAAAACTTGAAAAAATCTAAAATCTGTAACACTTCTGGTTTCTAACCATTTTGCATAAGGGATACCCAACCTTCATGTGTATTAAAAACCTTTCAACGTGGAGTTCTTCTTCTTAAACGGAGGCTACAGCTATGTAATGATTATTTTTCTAAAAATTTTAGATCAACCAGATGGCAACAGCACCAGATTCTCAGAGATTAAAGCTATTAAGAGAAGTAGCTGGTACTAGAGTGTATGACGAACGAAAGGAAGAAAGCATCTCCTTAATGAAAGAAACAGGTAAAATAAATGTGATTCTGCCTTATTTTTTTGTTGCAAATTACTGTTTTTGTGACAGAGTGGCTCCATGATGGGAATATAGTAGGTGTTTAGTATATGACAGCATTAGATAATGCTGTTATTAATAAAAATTGAGAATCCATAACACCAATGATGTTAGTAGCTTTTAAAAATATTGTGGAAACGCACACTGACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTTATTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATACTCAGTTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGATCTCGAACTCCTGACTTCAGATGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTACTCATGAGCCACTGCGCCTGGCCGGCACACTGACTTTTTAAAAGGAAGCTTAAACTGAGGCCCTTACTACATGTTATAAAAGAACCAGTGTCACCATGTGTAAATTTGTTCTCTGGTGCTTTTCATAATAAAGGATCTTAACCCATTTATGCCTAGCATTCCATTATTGGAATCCTAAGCTTGTGGATGTTACTTATATTCTACTGCTCAAGGTCATTGCCAAGGTCTGATTTTTCACAGAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAATTGCTATTTTAGTATTTTAAATTGGGTTACCACATCACATCAAAGAAATAATGCTACAGTTCTTAAAAATAATTTAATTCAAGGTATATTTAAGAAGTGATATTACATAAAAATCTTATTCAATTCTTCCACCTCTCTCCCCATTTCTTTTTTAAGAGGGCAAACGGGAAAAAATCAATGAGTTGTTAAAATACATTGAAGAGAGATTACATACTCTAGAGGAAGAAAAGGAAGAACTAGCTCAGTATCAGAAGTGGGATAAAATGAGACGAGCCCTGGAATATACCATTTACAATCAGGAACTTAACGAGACTCGTGCCAAACTTGATGAGGTAAAATATTTACCTGTGACACTTAAAATCAGATTAATTTTGTTTTTATGAATTTGTTAAACTCAGGCCATAATTACACTTTTCAGTGATTTTAAATAGAAACTTAAAAAAAACCTCTCAATGAATTTATTAGTCAGCAAGTTTTTTTAGTTCAAGGAAATTAGCCATGTGGTCCTTGCTATATAGTATTATCTGAAATATAATCAGATGGTGGTATTAGGCAGACAAGATGAGAGGAAAGCCATTTTGAAGGCTTCTTGTAGTTGTAGTATATCCTAAACTACACATTTTGTACAAAAATTTAGTGCTTCAGTTTTCTAGTTTAAAATCATTTTTAAAATTTTTGTAGAAAATTTGAGCAGTTACTTTTGGTTTATTTTAATAGAAAAATTTTTATTAGATGTTATGAAATATTTAGTAATTACAAAATGAGTTAGATATGATAAGTTGTTTTTTTTCTTAGCTTTCTGCTAAGCGAGAGACTAGTGGAGAAAAATCCAGACAATTAAGAGATGCTCAGCAGGATGCAAGAGATAAAATGGAGGTAAGATTATAAACAAGGTTCATGTTAACTTACTTTTTACTTTTGAGACAGGGTCTTGTTCTGTCATCCAGGCTGGAGTACAGTGGTGCCATCATGGCTCATTGTAGCCTTGACTTCCTGGGCTCAGGCAATCCTCTTGCCGCAGCTTCCTGAATAGCTGGAGCACAGGTGTGTACCACCACACCTGTCTAGTTTTTAAATATATTGTAGAGACAAGGTCTTACCATGTTGCCCAGGCTGGTCACAAACTCCTGGGCTCAAGTGGTCCTTCTGCCTCAGCCTCCTGAAGTTTTTTTTTTTTTTTTGGAAGACAGGGTCTCACTCCATTGCACAGGCTGGAGTGCAGTGGTGAGATCACAGCTCACTGCAGCCTTGATCTCTCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTATTTTTGTTATTTTTTGAAGAGATGGAATCTCAGTATGTTGCCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGAGTCCTCCCACCTGGGCCTCCCAAAGTGCTGAGTTTACAGGCATGAGCAACCATGTCCAGCCATCGTATGTTTTTGACCATAGTAAACCCTTTTGTACCAGAATTATGGAATGATTACACAAGGGAGAGTTAGAGGAATTGAATATTGAAAGGACAGAGTATTACTAAACATTAAGTGAAAGAGAATTAATGGTGTCACAATTCTGCTATTGTACTTCTAATTGCCTTATTTTCTGTTTAATACTTTTGAATAGGATATCGAACGCCAAGTTAGAGAATTGAAAACAAAAATTTCAGCTATGAAAGAAGAAAAAGAACAGCTTAGTGCTGAAAGACAAGAGCAGATTAAGCAGAGGACTAAGTTGGAGCTTAAAGCCAAGGATTTACAAGATGAACTAGCAGGCAATAGTGAACAAAGGGTAAGTTAAAATGCTAAAAATGAAAGATGTGAATGTTCAGGTGAGTAGCAACTGTAGAAGACAGCCCTTTCTGTGACTGGTGTGTGTTGGAATTTTTTTTTAAGCTTTGCTACGTTAGCATAATTTGTACTCAAGTAACAACTTGGTACTGTCCCTTTGTTTCTTACATTAAAAAAGAGTTTCATGTTACAGGTGGGTTTTCTCATGAAGTTTTTTTCCTGAGAAAACATTTATGCTAGACCTAAATTATGCAAAAAATTTAAAGCAGTTTGCATTTTTACTTTGTTTACAGAAACGTTTATTAAAAGAGAGGCAGAAGCTGCTTGAAAAAATAGAAGAAAAGCAGAAAGAACTGGCAGAAACAGAACCCAAATTCAACAGTGTGAAAGAGAAAGAAGAACGAGGAATTGCT
benign
167,924
For chromosome 10, position 110582548, gene SMC3 (structural maintenance of chromosomes 3): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
benign
TCATTTAAGTAAAGGAGACATAGATATGTAGGCATGCGTACTATACAAATGACATTAGCCAAATCATAATCTGTTTAAAACTTGGCATGTCCCAAATTCAAAAGTCTGAAATACAGAATGCTCTACAATCTGAAACCTTTCGAGTGTGGACATGACATTCAAAGGAAATGCTTGTTGGAACATTTTGGATTTCAAATTTTTGGATTTGGGTTGCTCATCTGGTAAGTATAAATGCAAATATTCCAAAACTTGAAAAAATCTAAAATCTGTAACACTTCTGGTTTCTAACCATTTTGCATAAGGGATACCCAACCTTCATGTGTATTAAAAACCTTTCAACGTGGAGTTCTTCTTCTTAAACGGAGGCTACAGCTATGTAATGATTATTTTTCTAAAAATTTTAGATCAACCAGATGGCAACAGCACCAGATTCTCAGAGATTAAAGCTATTAAGAGAAGTAGCTGGTACTAGAGTGTATGACGAACGAAAGGAAGAAAGCATCTCCTTAATGAAAGAAACAGGTAAAATAAATGTGATTCTGCCTTATTTTTTTGTTGCAAATTACTGTTTTTGTGACAGAGTGGCTCCATGATGGGAATATAGTAGGTGTTTAGTATATGACAGCATTAGATAATGCTGTTATTAATAAAAATTGAGAATCCATAACACCAATGATGTTAGTAGCTTTTAAAAATATTGTGGAAACGCACACTGACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTTATTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATACTCAGTTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGATCTCGAACTCCTGACTTCAGATGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTACTCATGAGCCACTGCGCCTGGCCGGCACACTGACTTTTTAAAAGGAAGCTTAAACTGAGGCCCTTACTACATGTTATAAAAGAACCAGTGTCACCATGTGTAAATTTGTTCTCTGGTGCTTTTCATAATAAAGGATCTTAACCCATTTATGCCTAGCATTCCATTATTGGAATCCTAAGCTTGTGGATGTTACTTATATTCTACTGCTCAAGGTCATTGCCAAGGTCTGATTTTTCACAGAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAATTGCTATTTTAGTATTTTAAATTGGGTTACCACATCACATCAAAGAAATAATGCTACAGTTCTTAAAAATAATTTAATTCAAGGTATATTTAAGAAGTGATATTACATAAAAATCTTATTCAATTCTTCCACCTCTCTCCCCATTTCTTTTAAGAGGGCAAACGGGAAAAAATCAATGAGTTGTTAAAATACATTGAAGAGAGATTACATACTCTAGAGGAAGAAAAGGAAGAACTAGCTCAGTATCAGAAGTGGGATAAAATGAGACGAGCCCTGGAATATACCATTTACAATCAGGAACTTAACGAGACTCGTGCCAAACTTGATGAGGTAAAATATTTACCTGTGACACTTAAAATCAGATTAATTTTGTTTTTATGAATTTGTTAAACTCAGGCCATAATTACACTTTTCAGTGATTTTAAATAGAAACTTAAAAAAAACCTCTCAATGAATTTATTAGTCAGCAAGTTTTTTTAGTTCAAGGAAATTAGCCATGTGGTCCTTGCTATATAGTATTATCTGAAATATAATCAGATGGTGGTATTAGGCAGACAAGATGAGAGGAAAGCCATTTTGAAGGCTTCTTGTAGTTGTAGTATATCCTAAACTACACATTTTGTACAAAAATTTAGTGCTTCAGTTTTCTAGTTTAAAATCATTTTTAAAATTTTTGTAGAAAATTTGAGCAGTTACTTTTGGTTTATTTTAATAGAAAAATTTTTATTAGATGTTATGAAATATTTAGTAATTACAAAATGAGTTAGATATGATAAGTTGTTTTTTTTCTTAGCTTTCTGCTAAGCGAGAGACTAGTGGAGAAAAATCCAGACAATTAAGAGATGCTCAGCAGGATGCAAGAGATAAAATGGAGGTAAGATTATAAACAAGGTTCATGTTAACTTACTTTTTACTTTTGAGACAGGGTCTTGTTCTGTCATCCAGGCTGGAGTACAGTGGTGCCATCATGGCTCATTGTAGCCTTGACTTCCTGGGCTCAGGCAATCCTCTTGCCGCAGCTTCCTGAATAGCTGGAGCACAGGTGTGTACCACCACACCTGTCTAGTTTTTAAATATATTGTAGAGACAAGGTCTTACCATGTTGCCCAGGCTGGTCACAAACTCCTGGGCTCAAGTGGTCCTTCTGCCTCAGCCTCCTGAAGTTTTTTTTTTTTTTTTGGAAGACAGGGTCTCACTCCATTGCACAGGCTGGAGTGCAGTGGTGAGATCACAGCTCACTGCAGCCTTGATCTCTCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTATTTTTGTTATTTTTTGAAGAGATGGAATCTCAGTATGTTGCCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGAGTCCTCCCACCTGGGCCTCCCAAAGTGCTGAGTTTACAGGCATGAGCAACCATGTCCAGCCATCGTATGTTTTTGACCATAGTAAACCCTTTTGTACCAGAATTATGGAATGATTACACAAGGGAGAGTTAGAGGAATTGAATATTGAAAGGACAGAGTATTACTAAACATTAAGTGAAAGAGAATTAATGGTGTCACAATTCTGCTATTGTACTTCTAATTGCCTTATTTTCTGTTTAATACTTTTGAATAGGATATCGAACGCCAAGTTAGAGAATTGAAAACAAAAATTTCAGCTATGAAAGAAGAAAAAGAACAGCTTAGTGCTGAAAGACAAGAGCAGATTAAGCAGAGGACTAAGTTGGAGCTTAAAGCCAAGGATTTACAAGATGAACTAGCAGGCAATAGTGAACAAAGGGTAAGTTAAAATGCTAAAAATGAAAGATGTGAATGTTCAGGTGAGTAGCAACTGTAGAAGACAGCCCTTTCTGTGACTGGTGTGTGTTGGAATTTTTTTTTAAGCTTTGCTACGTTAGCATAATTTGTACTCAAGTAACAACTTGGTACTGTCCCTTTGTTTCTTACATTAAAAAAGAGTTTCATGTTACAGGTGGGTTTTCTCATGAAGTTTTTTTCCTGAGAAAACATTTATGCTAGACCTAAATTATGCAAAAAATTTAAAGCAGTTTGCATTTTTACTTTGTTTACAGAAACGTTTATTAAAAGAGAGGCAGAAGCTGCTTGAAAAAATAGAAGAAAAGCAGAAAGAACTGGCAGAAACAGAACCCAAATTCAACAGTGTGAAAGAGAAAGAAGAACGAGGAATTGCTAGGTCTGAGAACTTTCACCAACACTTTAACTTTCTACATCATATTATGTAAAACTAGGTTGTCCGAGGAGCTCAATTATATAGTAGCTGCTTTTTACACTTAATTCTTTTTGTATCTTTTTGAAAAATGGCTTTATGTTTCTGTGTGCAGTTGACATTATTGGTTGCAATTAAACTTGGTTATTATTCTCCTTTTCATCCCATTTGCTTCTATTTTGTGTAGATTGGCTCAAGCTACCCAGGAAAGAACGGATCTTTATGCAAAGCAGGGTCGAGGAAGCCAGTTTACATCAAAAGAAGAAAGGGATAAGTGGATTAAAAAGGAACTCAAGTCTTTAGATCAGGCTATTAATGACAAGAAAAGACAGATTGCTGCTATACATAAGGATTTGGAAGACACTGAAGCAAATAAAGAGAAAAATCTGGAGCAGTATAATGTAAGAACTTCTATAGCTGCTTTGTAAAAATCTTTCAGAAGAGATAAATGTGTTTAGTTTTATCTACTTCAAGTTTTCTTTTTAAATAAGTCTACATGTTGCTCTTAAAATATATGACAGATACTTATTTAGAAAAGGCCTGCACAGTTTAATATACATATAGTTCTTTTTTAAAGAATATTCATGTCATTGAGCCTTT
TCATTTAAGTAAAGGAGACATAGATATGTAGGCATGCGTACTATACAAATGACATTAGCCAAATCATAATCTGTTTAAAACTTGGCATGTCCCAAATTCAAAAGTCTGAAATACAGAATGCTCTACAATCTGAAACCTTTCGAGTGTGGACATGACATTCAAAGGAAATGCTTGTTGGAACATTTTGGATTTCAAATTTTTGGATTTGGGTTGCTCATCTGGTAAGTATAAATGCAAATATTCCAAAACTTGAAAAAATCTAAAATCTGTAACACTTCTGGTTTCTAACCATTTTGCATAAGGGATACCCAACCTTCATGTGTATTAAAAACCTTTCAACGTGGAGTTCTTCTTCTTAAACGGAGGCTACAGCTATGTAATGATTATTTTTCTAAAAATTTTAGATCAACCAGATGGCAACAGCACCAGATTCTCAGAGATTAAAGCTATTAAGAGAAGTAGCTGGTACTAGAGTGTATGACGAACGAAAGGAAGAAAGCATCTCCTTAATGAAAGAAACAGGTAAAATAAATGTGATTCTGCCTTATTTTTTTGTTGCAAATTACTGTTTTTGTGACAGAGTGGCTCCATGATGGGAATATAGTAGGTGTTTAGTATATGACAGCATTAGATAATGCTGTTATTAATAAAAATTGAGAATCCATAACACCAATGATGTTAGTAGCTTTTAAAAATATTGTGGAAACGCACACTGACTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTTATTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATACTCAGTTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGTCCAGGCTGATCTCGAACTCCTGACTTCAGATGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTACTCATGAGCCACTGCGCCTGGCCGGCACACTGACTTTTTAAAAGGAAGCTTAAACTGAGGCCCTTACTACATGTTATAAAAGAACCAGTGTCACCATGTGTAAATTTGTTCTCTGGTGCTTTTCATAATAAAGGATCTTAACCCATTTATGCCTAGCATTCCATTATTGGAATCCTAAGCTTGTGGATGTTACTTATATTCTACTGCTCAAGGTCATTGCCAAGGTCTGATTTTTCACAGAAAAAAATTTGCAACCTCTGGCATAAATGGGTTAATTGCTATTTTAGTATTTTAAATTGGGTTACCACATCACATCAAAGAAATAATGCTACAGTTCTTAAAAATAATTTAATTCAAGGTATATTTAAGAAGTGATATTACATAAAAATCTTATTCAATTCTTCCACCTCTCTCCCCATTTCTTTTAAGAGGGCAAACGGGAAAAAATCAATGAGTTGTTAAAATACATTGAAGAGAGATTACATACTCTAGAGGAAGAAAAGGAAGAACTAGCTCAGTATCAGAAGTGGGATAAAATGAGACGAGCCCTGGAATATACCATTTACAATCAGGAACTTAACGAGACTCGTGCCAAACTTGATGAGGTAAAATATTTACCTGTGACACTTAAAATCAGATTAATTTTGTTTTTATGAATTTGTTAAACTCAGGCCATAATTACACTTTTCAGTGATTTTAAATAGAAACTTAAAAAAAACCTCTCAATGAATTTATTAGTCAGCAAGTTTTTTTAGTTCAAGGAAATTAGCCATGTGGTCCTTGCTATATAGTATTATCTGAAATATAATCAGATGGTGGTATTAGGCAGACAAGATGAGAGGAAAGCCATTTTGAAGGCTTCTTGTAGTTGTAGTATATCCTAAACTACACATTTTGTACAAAAATTTAGTGCTTCAGTTTTCTAGTTTAAAATCATTTTTAAAATTTTTGTAGAAAATTTGAGCAGTTACTTTTGGTTTATTTTAATAGAAAAATTTTTATTAGATGTTATGAAATATTTAGTAATTACAAAATGAGTTAGATATGATAAGTTGTTTTTTTTTCTTAGCTTTCTGCTAAGCGAGAGACTAGTGGAGAAAAATCCAGACAATTAAGAGATGCTCAGCAGGATGCAAGAGATAAAATGGAGGTAAGATTATAAACAAGGTTCATGTTAACTTACTTTTTACTTTTGAGACAGGGTCTTGTTCTGTCATCCAGGCTGGAGTACAGTGGTGCCATCATGGCTCATTGTAGCCTTGACTTCCTGGGCTCAGGCAATCCTCTTGCCGCAGCTTCCTGAATAGCTGGAGCACAGGTGTGTACCACCACACCTGTCTAGTTTTTAAATATATTGTAGAGACAAGGTCTTACCATGTTGCCCAGGCTGGTCACAAACTCCTGGGCTCAAGTGGTCCTTCTGCCTCAGCCTCCTGAAGTTTTTTTTTTTTTTTTGGAAGACAGGGTCTCACTCCATTGCACAGGCTGGAGTGCAGTGGTGAGATCACAGCTCACTGCAGCCTTGATCTCTCAAGCTCAAGTGATCCTCCCACCTCAGCCTCCTATTTTTGTTATTTTTTGAAGAGATGGAATCTCAGTATGTTGCCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGAGTCCTCCCACCTGGGCCTCCCAAAGTGCTGAGTTTACAGGCATGAGCAACCATGTCCAGCCATCGTATGTTTTTGACCATAGTAAACCCTTTTGTACCAGAATTATGGAATGATTACACAAGGGAGAGTTAGAGGAATTGAATATTGAAAGGACAGAGTATTACTAAACATTAAGTGAAAGAGAATTAATGGTGTCACAATTCTGCTATTGTACTTCTAATTGCCTTATTTTCTGTTTAATACTTTTGAATAGGATATCGAACGCCAAGTTAGAGAATTGAAAACAAAAATTTCAGCTATGAAAGAAGAAAAAGAACAGCTTAGTGCTGAAAGACAAGAGCAGATTAAGCAGAGGACTAAGTTGGAGCTTAAAGCCAAGGATTTACAAGATGAACTAGCAGGCAATAGTGAACAAAGGGTAAGTTAAAATGCTAAAAATGAAAGATGTGAATGTTCAGGTGAGTAGCAACTGTAGAAGACAGCCCTTTCTGTGACTGGTGTGTGTTGGAATTTTTTTTTAAGCTTTGCTACGTTAGCATAATTTGTACTCAAGTAACAACTTGGTACTGTCCCTTTGTTTCTTACATTAAAAAAGAGTTTCATGTTACAGGTGGGTTTTCTCATGAAGTTTTTTTCCTGAGAAAACATTTATGCTAGACCTAAATTATGCAAAAAATTTAAAGCAGTTTGCATTTTTACTTTGTTTACAGAAACGTTTATTAAAAGAGAGGCAGAAGCTGCTTGAAAAAATAGAAGAAAAGCAGAAAGAACTGGCAGAAACAGAACCCAAATTCAACAGTGTGAAAGAGAAAGAAGAACGAGGAATTGCTAGGTCTGAGAACTTTCACCAACACTTTAACTTTCTACATCATATTATGTAAAACTAGGTTGTCCGAGGAGCTCAATTATATAGTAGCTGCTTTTTACACTTAATTCTTTTTGTATCTTTTTGAAAAATGGCTTTATGTTTCTGTGTGCAGTTGACATTATTGGTTGCAATTAAACTTGGTTATTATTCTCCTTTTCATCCCATTTGCTTCTATTTTGTGTAGATTGGCTCAAGCTACCCAGGAAAGAACGGATCTTTATGCAAAGCAGGGTCGAGGAAGCCAGTTTACATCAAAAGAAGAAAGGGATAAGTGGATTAAAAAGGAACTCAAGTCTTTAGATCAGGCTATTAATGACAAGAAAAGACAGATTGCTGCTATACATAAGGATTTGGAAGACACTGAAGCAAATAAAGAGAAAAATCTGGAGCAGTATAATGTAAGAACTTCTATAGCTGCTTTGTAAAAATCTTTCAGAAGAGATAAATGTGTTTAGTTTTATCTACTTCAAGTTTTCTTTTTAAATAAGTCTACATGTTGCTCTTAAAATATATGACAGATACTTATTTAGAAAAGGCCTGCACAGTTTAATATACATATAGTTCTTTTTTAAAGAATATTCATGTCATTGAGCCTT
benign
167,926
Gene SMC3 (structural maintenance of chromosomes 3) variant at chromosome position 110589930 on chromosome 10: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Cornelia_de_Lange_syndrome_3']
TTACCTAGGGAATTTGTTAACTCTTTTATGGTTTCAGATACCACTGAGTCCCAAATTCCTTATGTGTAGAATTAAAGGGTTTAATTATCCAAGATGTTAAAAGTCATTCTGATTATCCAAGATTTTTTGAGACAGAGTCTCGCTGTGTCACCAGGTTGGAGTGCAGTGACACAATCTCAGCTCACTGCAACCTCCCCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCCAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACGATGTTGCCCAGGATGGTCTCCATCTCTTGACTTCATGAGCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATCTAAGATTTTGTGACTCAGTAGTAACATTGACTTTTTGTCAGTGGAATTAGTAGTAACATTGACTTTTGTCCATTAAAATTTTGGACAAAAAGTCAGTGTTACTACTGAGGATGAATAATTGTCAGTACTCTGTGGGAATATTTACAATTACTTTGATATCTGACAATAATTAGTTATAATACAAACAGATGAATGTAATTACTTTATGAAGCAGTTTGAAGCCCTTCCCCTGAAGGATGATCTTCAGCTTTATTTTGCTTGTCTTATTGCTTCCCAGTAAGGCAAGGATTTTTGTTTGCTTTGGTCTTTTATGATTCCCCAGCTCTTCTAAGAATGCCTGGTACATACTGGGGTTTTGGTAACTTCACTAAGTGGATGAAGTGTCAGCTTCCTTAAACTCTAGCCAGTGAGGCTATTGGATTTTTTCAGCTCAGTATAGTCTACTAAATTAATGAATACAGTTCATTAATTCTCCTTAAGGAAACAGCATCTTACGTTAGGTTCTTAGAGATTTGTTATAGGTTCTGCCAAGATTTTTAACTCATTTTTCTTGAATGTAAAATAGTTGAAAATAGTTTTTGTGTTCTGTTGTGTGTGTGTGTAGAGGGGGCAGTATGAAAGTATATAATGGACTATTATGAGAACTTAGAATTTTTTTTCTAAAATTCTGGAGTGTATATTATAGAAATAGGAAGATTTAGATCACTAATGAACAAATTAACTTTTAGCAACATGTTTTATAGTATTTAATGGTTTGTGTTTTCTGGTGTGGTATGCTCTTTTGCCTAAAGACAACTTTTAAAAACTGAAATGGGGCCGGGCGCAGTGTCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAATACAAAAAACAAAAAAAACAAACTGAAATTGGATTTTTCAACAGCATCATTGAGGTATAATTCACATACAGTAAATTGTACATATTTAGTGTACATCATTTTTCCTAGTCAGGAAAGTGGCAAAAATAAAGTATATAATTTGATGAGTTTTGACATACGTATACATCTGTAAAACACCACACAGTTAAGACACCACACACCACAGTTAAGACAATAAACACGTTTATTACCCAAAAGCGTTTTCCATACCCCTTTGTAATTCCTCCCTCACCTTTTGTCCGCCTCCCCCATCCATCTGCAACCACTGATCTGCTTTCTATCAGTGTAGATTAGTTTCATGAAATTGAATTTTAAATTTATTTTTATTTCCATAGAAACTGGACCAGGATCTTAATGAAGTCAAAGCTCGAGTAGAAGAACTGGACAGAAAATATTACGAAGTAAAAAATAAGAAAGATGAACTACAAAGTGAAAGAAAGTTAGTATAGACTAAAATGTGCATTAATGTTTTCAGTAATGTTCGTTACTAGCTGTTATGTGGTCTTTAAGTTACAAGTTAACCGGTCAGGCTTGTTTTCTGTATTTTGATTCTAAACTGTATACTGTTAATGCATCCTCATATGTGTTTAAAATTAAAGACAGTCTACTTTTTATTTATTAGCTACTTGTGGAGAGAAGAGAATGCAGAACAGCAAGCACTTGCTGCTAAAAGAGAAGATCTTGAAAAGAAGCAACAACTTCTTAGAGCAGCAACAGGAAAGGTGGGCAGGTTCTTTTCATCACCTCTGTTTACACTGAGTCATTGAGTTAATCGTTATGTAATAATTTTTTACCTTTCAAGGTGTAGGTCATGGGTTCCAAGTGATAAATAGGAGTCCAAATTATCTTCTAAATATGAAATGATAGAGATTAAATAGTTTTATTACTACACATACTATTAATAGCACTTTTGATGTTCAGATAAAGAGCCCATTTTTAACACTACTGTTATGGAACAGAGCCTATCATATAAGGTGTTACATGTAGTTGGCATATTGTGAGGAGGTGATGTGTTTGTTGGAGAGGATGTTTAGTTTAATCACTGGTATATTTTTAAAATGTATGGTGTTGTGGGCTCATTCCTTACCAGGAGTGCCATTGATGATATTATTTTAATATTTTTCATTTCTGACAACTTACAGGCCATTTTAAATGGAATAGACAGCATAAACAAAGTGCTAGACCACTTCCGTCGAAAAGGAATAAACCAGCATGTTCAAAATGGCTATCATGGTATTGTAATGAATAACTTTGAATGTGAACCAGCTTTCTACACATGCGTGGAAGTCACTGCTGGAAACAGGTTAAAGCTTTTGCTTGATATTTAGCATTTTTAGAAGAGGGAATAAGAATAGCTTAAACAACTTTTGTAGTTTTTGTACAACATATCTTCCATTATCTTTTTATATCTCGGTTCCTTAACTTTCTAATTAAAGAAGTAGATGCTAAGTATTTGTTCCTAATTATAGAAGCTAGAACTTTCCTCTTTTGGGAGTTTCTCCCTCCCCGCCATTGGAATTTTTAAAGTAGTCTTATTTTCCAAAATTATTTGGATTATATAGGAAAAAACTGTTTGATGCTTAAGTGTTTATAACATTTTAAAAGTGCACACCTTTAGTCCCAGCTATGCAGGAGGCTGAGGTGGGAGGATTGATAAGTTTGGGCAACATAGGGAGACCCTGAGTACCAATAAAGATTTGTCTTACTCTGTTTATATTTAGGTTATTTTATCACATTGTTGATTCAGATGAAGTCAGCACGAAGATTTTAATGGAGTTTAATAAAATGAATCTTCCTGGAGAGGTTACTTTTCTGCCTCTTAACAAGTTAGATGTCAGGGATACAGCCTATCCTGAAACCAATGTGAGTCATTGTGTGATAAGGTGTATTTCTCTTTTATAATGTTATTTTTTATCACATAATCTAACACATGCTAGTGCCCAGGCACTATACACTGGGATTCAGTGGTGTATGAGATAAAAATATCTGTCTTCCCATGGACCTTAGTGCTGAGTGGGTTTTGGGGAGGGAGACAGAAGTCACAGCTATGATTGGTGTGGTGATGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGTGGGAGGATCATTTAAAAAGAAGAGAAAAAAGCTAAGATATGAAACAAATCATTGCAAATGTGCAGTGTTAAAAGCGTAAGTACAGGATACTTTGAGAGCATATCTGGGAGTGACATAATTAAGGTTAGGGAGTTGGAGAAAGATTCCCAAGGAACTGTCATGTATAGTTTAAAAGTGTCTTGACGTACTTAGGATTAAATGAAAAAAATGGCTAGTAAGGTGATAGACTTCGGAAGCATAACATTGCTTTTGTTGGTAACAAAAGTGCACTTTAGGTGGATTAAAAATATTCTTCAGACACCATTCTTAGAACAGTGTAATTGCTTTGAGGTACTTGACTTCAGAATGTTGATGGTAGCATCAACTGTTTTACCATCCTCTGAAGTTAAAGCTGAAACCCCATGAGAATGATCAATAATTTAAGTGGAACATTAAGAATCTTGTAAGCTATCAAAGGGTCTGACTTTTTCTGCTATCACATCTACAAATTGTCTTTGAAGTTTGGGTAAGAAAAATTGAGTCTCAAAAACATGATGTATGAATGGAACGAGACACAAAGGAGTACATGGAGCGTGGTTCCATTTACGCTGAGTAAACAAAACCAAAC
TTACCTAGGGAATTTGTTAACTCTTTTATGGTTTCAGATACCACTGAGTCCCAAATTCCTTATGTGTAGAATTAAAGGGTTTAATTATCCAAGATGTTAAAAGTCATTCTGATTATCCAAGATTTTTTGAGACAGAGTCTCGCTGTGTCACCAGGTTGGAGTGCAGTGACACAATCTCAGCTCACTGCAACCTCCCCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCCCAGTAGCTGGGACTACAGGCGTGTGCCATCACGCCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACGATGTTGCCCAGGATGGTCTCCATCTCTTGACTTCATGAGCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCAATCTAAGATTTTGTGACTCAGTAGTAACATTGACTTTTTGTCAGTGGAATTAGTAGTAACATTGACTTTTGTCCATTAAAATTTTGGACAAAAAGTCAGTGTTACTACTGAGGATGAATAATTGTCAGTACTCTGTGGGAATATTTACAATTACTTTGATATCTGACAATAATTAGTTATAATACAAACAGATGAATGTAATTACTTTATGAAGCAGTTTGAAGCCCTTCCCCTGAAGGATGATCTTCAGCTTTATTTTGCTTGTCTTATTGCTTCCCAGTAAGGCAAGGATTTTTGTTTGCTTTGGTCTTTTATGATTCCCCAGCTCTTCTAAGAATGCCTGGTACATACTGGGGTTTTGGTAACTTCACTAAGTGGATGAAGTGTCAGCTTCCTTAAACTCTAGCCAGTGAGGCTATTGGATTTTTTCAGCTCAGTATAGTCTACTAAATTAATGAATACAGTTCATTAATTCTCCTTAAGGAAACAGCATCTTACGTTAGGTTCTTAGAGATTTGTTATAGGTTCTGCCAAGATTTTTAACTCATTTTTCTTGAATGTAAAATAGTTGAAAATAGTTTTTGTGTTCTGTTGTGTGTGTGTGTAGAGGGGGCAGTATGAAAGTATATAATGGACTATTATGAGAACTTAGAATTTTTTTTCTAAAATTCTGGAGTGTATATTATAGAAATAGGAAGATTTAGATCACTAATGAACAAATTAACTTTTAGCAACATGTTTTATAGTATTTAATGGTTTGTGTTTTCTGGTGTGGTATGCTCTTTTGCCTAAAGACAACTTTTAAAAACTGAAATGGGGCCGGGCGCAGTGTCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGACGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCCGTCTCTACTAAAAATACAAAAAACAAAAAAAACAAACTGAAATTGGATTTTTCAACAGCATCATTGAGGTATAATTCACATACAGTAAATTGTACATATTTAGTGTACATCATTTTTCCTAGTCAGGAAAGTGGCAAAAATAAAGTATATAATTTGATGAGTTTTGACATACGTATACATCTGTAAAACACCACACAGTTAAGACACCACACACCACAGTTAAGACAATAAACACGTTTATTACCCAAAAGCGTTTTCCATACCCCTTTGTAATTCCTCCCTCACCTTTTGTCCGCCTCCCCCATCCATCTGCAACCACTGATCTGCTTTCTATCAGTGTAGATTAGTTTCATGAAATTGAATTTTAAATTTATTTTTATTTCCATAGAAACTGGACCAGGATCTTAATGAAGTCAAAGCTCGAGTAGAAGAACTGGACAGAAAATATTACGAAGTAAAAAATAAGAAAGATGAACTACAAAGTGAAAGAAAGTTAGTATAGACTAAAATGTGCATTAATGTTTTCAGTAATGTTCGTTACTAGCTGTTATGTGGTCTTTAAGTTACAAGTTAACCGGTCAGGCTTGTTTTCTGTATTTTGATTCTAAACTGTATACTGTTAATGCATCCTCATATGTGTTTAAAATTAAAGACAGTCTACTTTTTATTTATTAGCTACTTGTGGAGAGAAGAGAATGCAGAACAGCAAGCACTTGCTAAAAGAGAAGATCTTGAAAAGAAGCAACAACTTCTTAGAGCAGCAACAGGAAAGGTGGGCAGGTTCTTTTCATCACCTCTGTTTACACTGAGTCATTGAGTTAATCGTTATGTAATAATTTTTTACCTTTCAAGGTGTAGGTCATGGGTTCCAAGTGATAAATAGGAGTCCAAATTATCTTCTAAATATGAAATGATAGAGATTAAATAGTTTTATTACTACACATACTATTAATAGCACTTTTGATGTTCAGATAAAGAGCCCATTTTTAACACTACTGTTATGGAACAGAGCCTATCATATAAGGTGTTACATGTAGTTGGCATATTGTGAGGAGGTGATGTGTTTGTTGGAGAGGATGTTTAGTTTAATCACTGGTATATTTTTAAAATGTATGGTGTTGTGGGCTCATTCCTTACCAGGAGTGCCATTGATGATATTATTTTAATATTTTTCATTTCTGACAACTTACAGGCCATTTTAAATGGAATAGACAGCATAAACAAAGTGCTAGACCACTTCCGTCGAAAAGGAATAAACCAGCATGTTCAAAATGGCTATCATGGTATTGTAATGAATAACTTTGAATGTGAACCAGCTTTCTACACATGCGTGGAAGTCACTGCTGGAAACAGGTTAAAGCTTTTGCTTGATATTTAGCATTTTTAGAAGAGGGAATAAGAATAGCTTAAACAACTTTTGTAGTTTTTGTACAACATATCTTCCATTATCTTTTTATATCTCGGTTCCTTAACTTTCTAATTAAAGAAGTAGATGCTAAGTATTTGTTCCTAATTATAGAAGCTAGAACTTTCCTCTTTTGGGAGTTTCTCCCTCCCCGCCATTGGAATTTTTAAAGTAGTCTTATTTTCCAAAATTATTTGGATTATATAGGAAAAAACTGTTTGATGCTTAAGTGTTTATAACATTTTAAAAGTGCACACCTTTAGTCCCAGCTATGCAGGAGGCTGAGGTGGGAGGATTGATAAGTTTGGGCAACATAGGGAGACCCTGAGTACCAATAAAGATTTGTCTTACTCTGTTTATATTTAGGTTATTTTATCACATTGTTGATTCAGATGAAGTCAGCACGAAGATTTTAATGGAGTTTAATAAAATGAATCTTCCTGGAGAGGTTACTTTTCTGCCTCTTAACAAGTTAGATGTCAGGGATACAGCCTATCCTGAAACCAATGTGAGTCATTGTGTGATAAGGTGTATTTCTCTTTTATAATGTTATTTTTTATCACATAATCTAACACATGCTAGTGCCCAGGCACTATACACTGGGATTCAGTGGTGTATGAGATAAAAATATCTGTCTTCCCATGGACCTTAGTGCTGAGTGGGTTTTGGGGAGGGAGACAGAAGTCACAGCTATGATTGGTGTGGTGATGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGTGGGAGGATCATTTAAAAAGAAGAGAAAAAAGCTAAGATATGAAACAAATCATTGCAAATGTGCAGTGTTAAAAGCGTAAGTACAGGATACTTTGAGAGCATATCTGGGAGTGACATAATTAAGGTTAGGGAGTTGGAGAAAGATTCCCAAGGAACTGTCATGTATAGTTTAAAAGTGTCTTGACGTACTTAGGATTAAATGAAAAAAATGGCTAGTAAGGTGATAGACTTCGGAAGCATAACATTGCTTTTGTTGGTAACAAAAGTGCACTTTAGGTGGATTAAAAATATTCTTCAGACACCATTCTTAGAACAGTGTAATTGCTTTGAGGTACTTGACTTCAGAATGTTGATGGTAGCATCAACTGTTTTACCATCCTCTGAAGTTAAAGCTGAAACCCCATGAGAATGATCAATAATTTAAGTGGAACATTAAGAATCTTGTAAGCTATCAAAGGGTCTGACTTTTTCTGCTATCACATCTACAAATTGTCTTTGAAGTTTGGGTAAGAAAAATTGAGTCTCAAAAACATGATGTATGAATGGAACGAGACACAAAGGAGTACATGGAGCGTGGTTCCATTTACGCTGAGTAAACAAAACCAAACNNN
pathogenic
167,941
Does the genetic variant at chromosome 10, position 110600557, impacting gene SMC3 (structural maintenance of chromosomes 3), appear benign or pathogenic? If pathogenic, name the associated disease(s).
benign
CGATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGACATACGCCACCACATCCGGCTAATTTTGTGTTTTTAGTAGACATGGGGTTTCACCATGTTGTCCAGGCTTGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTGCCCTCCCGAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCCAGGCTAGACCCATACTTTTGGATATCTACATCTATTTTACCATTCTTAAACCCATGGATACCCAAAGTCTCCTATTGTTGGCACGTTCAAACTTTCCACCTTCATTGAACAAATAGGCATTTGAAGCTGTGACATAAGAGTACTGTCTGATGGTCAGTTTTTGTCAGTAACCATTTTTATCTGAAGCACAATGGAATTAGTTGAATATTTGATTCCGTTTTGTCCAGATTGTATTAAAATTAGAAAGCAAACTTATAAGTGATAGTGTGTTATTGGTCTCATAAACTTGACAGTTTTGACAAATCTTTTACTTAGTATAATACTAAAACTACAAAGAGCTTAAAAAAAAAAAAAAAGATGTGCCTACAGTTGTACCATCCCAACCATATTCTGACAACTTTTTATTTTTTGAGGGGGATGGAGTCTCGCCCTATCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTTACTGCAACCTCCACTTCCTGGGTTCAAGCAATTCTCCTGCCTCGGCCTCCAGAGTAGCTGGGATTGCAGGCGTGTGCCTCCACACCCAGCTAATTTTTGTATTTTCAGTATAGACGGGTTTCACCATGTTGGCCAGGCTCGTCTCGAACTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACTGCGCCCGGCAACTTTTTGTTCTTATAATATGCCTGAAGATTTTTGTATAGTTTAATCATGGAATATGATCTGCCCCACCCTGCCCCACCTATACTATTACATCATATTTTTCTTGTTGCTAGAGTCCTAATTACCAAATTAATAGGCACCTAATATTTGAGTTGATATGTCTATATATTTAGCTCAATCAAATATAGATTGTTTTAAAATTTTCACTATAAGTAATACAGTGGCTAATACCTTACTAATAAATGGATAATGTCATATAGCAACGTAGCTTACAGAGTTTGGAGGCAAGCTTGCATGCTATGGAGTCTACCAGAGAGTCATTGAAAGCAGAACTGGGAACTGATTTGCTTTCTCAACTGAGTTTGGAAGATCAGAAGAGAGTAGATGCACTGAATGATGAGATTCGTCAACTTCAGCAGGTAAGTAGACAGCTGACTGGAAAAAGAATTCGTTAGTAATTGGCTATTGTGAAAAGGGCCTTTCTTGCTAACTAGGGCAATATGAAAGAAAAGAACTGAGAAAATATTAAAATGAGGCTTGGACTTTTAATATACATAGGAGTAAATAAGATTTTGTTTTTCTAAACCAATCTAGCTAGGTTAGGATTATACAAGAAATTTTCATTTCCTTAAAATTTAGTTAATTAGCATTACTTATTAGTTGTAAGTATTGCTATGAGTTTGAGCTTGTTAGCCTTACCATATTTATCTTACTGCCTTTACATATTTAATGTTTTGATCAAGCATTTTAATTGATTTTTAAAACTGCATAGATGTAAACTACCAACACCGATTCTAAAAAATGAAAAGCATTTAAAGAAACTGTTTTTGACAGCATGCGTTATAAAAAGGGCCAGCCACAAAAATTTAACATTATGAATTGATAAGAGAAAAATGAAGAAAGTATAGGGCTTTTTTGAAGAATATAACATATTAAACTTCATTTCAGCTCACATGAGCACAAGTACTAGAGAGGACAGCAAATGAGCACCATTCCTGTGTGTGAAATGTACATGCTTATATAGACAACTTTTTCTTAATTCTAGGAAAACAGACAGTTGCTAAATGAAAGAATTAAATTAGAAGGTATTATTACTCGAGTAGAGACTTATCTCAATGAGAATCTGAGAAAACGCTTGGACCAAGTAGAACAGGTGTGTATGTGTTTTTTTTTTTTTTTTTAAGGGCTCCTTGGTGGCCATGACCTATTGCAAGTGGTTATATCAGAGGCTCTGATTGAAAGCATGGGCTTTGGGGACAGAAAGCTTAGTGTCTTGTGGGCCTTGGGTTGGAATTCTGCCACCTAGTGTGTGATTTTGGACAAGTCACTATTTCTAAGCCTCAGTTTCTTGTGTGAATTAAGCATTATCATACTTGTTTTATATAATTGCTATCCTGACACATTCTAAGTACTTTGTTAATATTTTTTCAGTGGTGGTTAGATGCTTAGAAATTTTCTAGTAATTGTGTCTTTTTTTTCTTCCCTTTAATGGATACTTCTAAGTATTTGTAATTATATGATGTATTTATATTTTTTTGTTTTCTTGAATGTTTATTCAGACAATAGCCATAGAAAATGTTGGCAGTCATAACATTTGAAACTAATGGAATTTGTATTTTTTGTTACAGGAACTTAATGAGCTGAGAGAGACAGAAGGGGGTACTGTTCTCACAGCCACAACATCAGAACTTGAAGCCATCAATAAAAGAGTAAAAGACACTATGGCACGATCAGAAGGTGAATTTTTATGTAGTAAAATTTTGTTTATATGCATGTTTTATAAAATTGTTTACTACAGAATGAAATGTCCAAATAGGCAGAAGCATATGCTAATGATTTTTTGTTTTCCATTATAAACAATGTATAGCAAATGGAATTTAGGAAGTTGACTATAAATAGTAACTTTTGTTTTACTGAAATGTTTATGACAATTTTGAGACCATAAATGATTCATTTTGTTGATAAAATATGAAATACCTGACGAAAGTTTCTCATCACTTAGTTGTTAGAAAATAACTATAGTTTATAAGCATTAACATTGAATAATGAAAATTATATATTTGAGTGACTCATATATACTTCTAATTTTGTACTGACTTAACATGGTTCATAAATTTTCACAGAAAATTTTAAACACAAAACCTAAAACCTATTTTGGTAGGTTTGATCATAAAAATCTATACTCAACATATAACACTGGCTTTATAGGTATTATAGCCTAATTTTGTTTCCCCCCATCTTAGATTTGGACAATTCCATTGATAAAACAGAAGCTGGAATTAAGGAGCTTCAGAAGAGTATGGAGCGCTGGAAAAATATGGAAAAAGAACATATGGATGCTATAAATCATGATACTAAAGAACTGGAAAAGATGACAAATCGGCAAGGCATGCTATTGAAGAAGAAAGAAGAGTGTATGAAGAAAATTCGAGAACTTGGATCACTTCCCCAGGAAGCATTTGAAAAGTACCAGACACTGAGCCTCAAACAGGTTGGTTTTAAATTTGAAGTCTTGTTACAAATTGCTCAGTATATAAATTTATTTATATGAATACATATTTTCTCTTTATAGTTGTTTCGAAAACTTGAGCAGTGCAACACAGAATTAAAGAAGTACAGCCATGTTAACAAAAAGGCTTTGGATCAGTTTGTAAATTTCTCCGAGCAGAAAGAAAAGTTAATAAAGCGTCAAGAAGAGTTAGATAGGGGTTACAAATCAATCATGGAACTGATGAATGTACTTGAACTTCGGAAATATGAAGCTATTCAGTTAACTTTCAAACAGGTATGTTTCGCTTTGTAGTTAAAACATACACACAGAGGACAAAAGCTTCCAGCTCTTTTCAGTTTGTAAAGATTTTAAAGCTGTTTTCCTCATTACCAGGTGAATCTAATACATGTGAACAAACCTAGCATATAGGTTTACAGTAACTTGAATGTTTTACACAGCCCTTAGAAGGATCTAGTCTGTTATCCTTGTTCTTAAGATTAAAAAATAATTGGTTGCTTTTAAATATTTTACTTAAGTGTTATATATAATTCTAAGCAAAATTTATATTTCAATCTGCTTTTGTTTTAAGGTATCTAAGAACTTCAGTGAAGTATTCCAGAAGTTAGTACCTGGTGGCAAAGCTACTTTGGTGATGAAGAAAGGAGATGTGGAGGGCAGTCAGTCTCAAGATGAAGGAGAAGGGAGTGGTGAGAGTGAGAG
CGATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGACATACGCCACCACATCCGGCTAATTTTGTGTTTTTAGTAGACATGGGGTTTCACCATGTTGTCCAGGCTTGTCTCAAACTCCTGACCTCAGATGATCCACCTGCCTTGCCCTCCCGAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCCAGGCTAGACCCATACTTTTGGATATCTACATCTATTTTACCATTCTTAAACCCATGGATACCCAAAGTCTCCTATTGTTGGCACGTTCAAACTTTCCACCTTCATTGAACAAATAGGCATTTGAAGCTGTGACATAAGAGTACTGTCTGATGGTCAGTTTTTGTCAGTAACCATTTTTATCTGAAGCACAATGGAATTAGTTGAATATTTGATTCCGTTTTGTCCAGATTGTATTAAAATTAGAAAGCAAACTTATAAGTGATAGTGTGTTATTGGTCTCATAAACTTGACAGTTTTGACAAATCTTTTACTTAGTATAATACTAAAACTACAAAGAGCTTAAAAAAAAAAAAAAAGATGTGCCTACAGTTGTACCATCCCAACCATATTCTGACAACTTTTTATTTTTTGAGGGGGATGGAGTCTCGCCCTATCGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTTACTGCAACCTCCACTTCCTGGGTTCAAGCAATTCTCCTGCCTCGGCCTCCAGAGTAGCTGGGATTGCAGGCGTGTGCCTCCACACCCAGCTAATTTTTGTATTTTCAGTATAGACGGGTTTCACCATGTTGGCCAGGCTCGTCTCGAACTCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACTGCGCCCGGCAACTTTTTGTTCTTATAATATGCCTGAAGATTTTTGTATAGTTTAATCATGGAATATGATCTGCCCCACCCTGCCCCACCTATACTATTACATCATATTTTTCTTGTTGCTAGAGTCCTAATTACCAAATTAATAGGCACCTAATATTTGAGTTGATATGTCTATATATTTAGCTCAATCAAATATAGATTGTTTTAAAATTTTCACTATAAGTAATACAGTGGCTAATACCTTACTAATAAATGGATAATGTCATATAGCAACGTAGCTTACAGAGTTTGGAGGCAAGCTTGCATGCTATGGAGTCTACCAGAGAGTCATTGAAAGCAGAACTGGGAACTGATTTGCTTTCTCAACTGAGTTTGGAAGATCAGAAGAGAGTAGATGCACTGAATGATGAGATTCGTCAACTTCAGCAGGTAAGTAGACAGCTGACTGGAAAAAGAATTCGTTAGTAATTGGCTATTGTGAAAAGGGCCTTTCTTGCTAACTAGGGCAATATGAAAGAAAAGAACTGAGAAAATATTAAAATGAGGCTTGGACTTTTAATATACATAGGAGTAAATAAGATTTTGTTTTTCTAAACCAATCTAGCTAGGTTAGGATTATACAAGAAATTTTCATTTCCTTAAAATTTAGTTAATTAGCATTACTTATTAGTTGTAAGTATTGCTATGAGTTTGAGCTTGTTAGCCTTACCATATTTATCTTACTGCCTTTACATATTTAATGTTTTGATCAAGCATTTTAATTGATTTTTAAAACTGCATAGATGTAAACTACCAACACCGATTCTAAAAAATGAAAAGCATTTAAAGAAACTGTTTTTGACAGCATGCGTTATAAAAAGGGCCAGCCACAAAAATTTAACATTATGAATTGATAAGAGAAAAATGAAGAAAGTATAGGGCTTTTTTGAAGAATATAACATATTAAACTTCATTTCAGCTCACATGAGCACAAGTACTAGAGAGGACAGCAAATGAGCACCATTCCTGTGTGTGAAATGTACATGCTTATATAGACAACTTTTTCTTAATTCTAGGAAAACAGACAGTTGCTAAATGAAAGAATTAAATTAGAAGGTATTATTACTCGAGTAGAGACTTATCTCAATGAGAATCTGAGAAAACGCTTGGACCAAGTAGAACAGGTGTGTATGTGTTTTTTTTTTTTTTTTAAGGGCTCCTTGGTGGCCATGACCTATTGCAAGTGGTTATATCAGAGGCTCTGATTGAAAGCATGGGCTTTGGGGACAGAAAGCTTAGTGTCTTGTGGGCCTTGGGTTGGAATTCTGCCACCTAGTGTGTGATTTTGGACAAGTCACTATTTCTAAGCCTCAGTTTCTTGTGTGAATTAAGCATTATCATACTTGTTTTATATAATTGCTATCCTGACACATTCTAAGTACTTTGTTAATATTTTTTCAGTGGTGGTTAGATGCTTAGAAATTTTCTAGTAATTGTGTCTTTTTTTTCTTCCCTTTAATGGATACTTCTAAGTATTTGTAATTATATGATGTATTTATATTTTTTTGTTTTCTTGAATGTTTATTCAGACAATAGCCATAGAAAATGTTGGCAGTCATAACATTTGAAACTAATGGAATTTGTATTTTTTGTTACAGGAACTTAATGAGCTGAGAGAGACAGAAGGGGGTACTGTTCTCACAGCCACAACATCAGAACTTGAAGCCATCAATAAAAGAGTAAAAGACACTATGGCACGATCAGAAGGTGAATTTTTATGTAGTAAAATTTTGTTTATATGCATGTTTTATAAAATTGTTTACTACAGAATGAAATGTCCAAATAGGCAGAAGCATATGCTAATGATTTTTTGTTTTCCATTATAAACAATGTATAGCAAATGGAATTTAGGAAGTTGACTATAAATAGTAACTTTTGTTTTACTGAAATGTTTATGACAATTTTGAGACCATAAATGATTCATTTTGTTGATAAAATATGAAATACCTGACGAAAGTTTCTCATCACTTAGTTGTTAGAAAATAACTATAGTTTATAAGCATTAACATTGAATAATGAAAATTATATATTTGAGTGACTCATATATACTTCTAATTTTGTACTGACTTAACATGGTTCATAAATTTTCACAGAAAATTTTAAACACAAAACCTAAAACCTATTTTGGTAGGTTTGATCATAAAAATCTATACTCAACATATAACACTGGCTTTATAGGTATTATAGCCTAATTTTGTTTCCCCCCATCTTAGATTTGGACAATTCCATTGATAAAACAGAAGCTGGAATTAAGGAGCTTCAGAAGAGTATGGAGCGCTGGAAAAATATGGAAAAAGAACATATGGATGCTATAAATCATGATACTAAAGAACTGGAAAAGATGACAAATCGGCAAGGCATGCTATTGAAGAAGAAAGAAGAGTGTATGAAGAAAATTCGAGAACTTGGATCACTTCCCCAGGAAGCATTTGAAAAGTACCAGACACTGAGCCTCAAACAGGTTGGTTTTAAATTTGAAGTCTTGTTACAAATTGCTCAGTATATAAATTTATTTATATGAATACATATTTTCTCTTTATAGTTGTTTCGAAAACTTGAGCAGTGCAACACAGAATTAAAGAAGTACAGCCATGTTAACAAAAAGGCTTTGGATCAGTTTGTAAATTTCTCCGAGCAGAAAGAAAAGTTAATAAAGCGTCAAGAAGAGTTAGATAGGGGTTACAAATCAATCATGGAACTGATGAATGTACTTGAACTTCGGAAATATGAAGCTATTCAGTTAACTTTCAAACAGGTATGTTTCGCTTTGTAGTTAAAACATACACACAGAGGACAAAAGCTTCCAGCTCTTTTCAGTTTGTAAAGATTTTAAAGCTGTTTTCCTCATTACCAGGTGAATCTAATACATGTGAACAAACCTAGCATATAGGTTTACAGTAACTTGAATGTTTTACACAGCCCTTAGAAGGATCTAGTCTGTTATCCTTGTTCTTAAGATTAAAAAATAATTGGTTGCTTTTAAATATTTTACTTAAGTGTTATATATAATTCTAAGCAAAATTTATATTTCAATCTGCTTTTGTTTTAAGGTATCTAAGAACTTCAGTGAAGTATTCCAGAAGTTAGTACCTGGTGGCAAAGCTACTTTGGTGATGAAGAAAGGAGATGTGGAGGGCAGTCAGTCTCAAGATGAAGGAGAAGGGAGTGGTGAGAGTGAGAGN
benign
167,955
Does the genetic variant at chromosome 10, position 110799773, impacting gene RBM20 (RNA binding motif protein 20), appear benign or pathogenic? If pathogenic, name the associated disease(s).
benign
AAGAAGCCATTCTTAACATAAAGAGGCGATGCCGTAGCTGGCCTTCTGTTGGCATGGCGTAGGTGTTTTTGCTGGTGATGTTTTTTTGTTTCCCCTAGTTTCACTCTAACCTTCTAGTGATAGGTACAGGCCTTTGTGAATTGCCTAGAGGTGAGAGGAGATGCTTTGGAATGAGGTGCTCATTCACATAGAAAGGGTAATTGGCACCCAAAATAAAAATCTATGGACTTGAATCTCTTCACTGTGTTGTCAACCCCCCTGAGCTAATTATAATCTTATCCTCTAAGCCTCTCCTATCTGATGGCCTGGATTTGGAGCCAGCCAAGAACTTGGGACTAGGTATTTTTCCTGGTCCTTGATGTCAGCAGGTGAGGCCCTTTGTCTCACAGCAGGAGAGTAGGAGTGTGAGAATGGATGGATGCTTACTAAGTCTAAGGAACTAAGAATCCTTAACCTGTAGGAGTTGACTGAGCCCTTTGGGATGGAGTACCTTTGTCTTCATTTCTAAAGTCAGGTGGGGAGTTTATACTCCCAACAGTCAGAAATCAGAATATTTTATCTTTTAATGAATATTTTTACTTTATGAATCGGAGGAACAGGCATAGGAAAAATTCTTTTCTTAAAGAAGGCTGAACTTTGGAGACTCATAGCCACATCAGGTCATTAAGCTATCTCTCTCCATCAACCTGGAGTGAGACTACTCACTTGTCTCTGTTCCTACTTCTCAGAAATTCTATTTTGGGTAAATGCACAGAATTCAGCTTGTAACATTGATGTGGTGAGAGTCCCTAGATTAGTATTATTCCCATTTGACAAGTGAGAGCTAGAGGTGCTAAAGTGTTTATCAAGAAAAAGGCACTGAGAAAGCTGGGTGGCAGAATGTGAAATAAAACCCTAAAGAATCTTGACTTCTTAGTCGCCCACGCTAATGCCATAGACTATGACAGCATGGAGAAAAGCTGTGCATCTGAAATTCAGAAATAAATATGAGAGAAGGAAGAGAATGAGCTTGTTTAGATCATTTAGTTTAAGGAAATGAGAGAGTCAGGGGCTCACAGTGAGGGCTTCCCTGTCACCGACCCCTTTTCCCCTGCAGCATTGAGGAATCAGGATCAGTATATTGTCAGTATAGTACAAACCAAACAAATCCAAAAAACAATAGCAGCAACAAATTCACCACACCAACTACTGGGGTAAACTGATGCACAGTCAAAACGGTCTCTTTGGAACTCTCAGTAGACACAGGTTTAGTGGAAAAGCCCATTTGTCTGTGTTTTATCAGAGCAGTTAAATAAAGAAGAAAGATGCTGTGGAAACATAATCGGGAAGTTTTCCTTTTTCTTTAACTCACAACAACATGGCCTTCCTTCAAGCCTAGGGGTTTGTGAGTTCCTGAATTTTTTTATAAGGAAAGTAGAACTCAAATAACCAAAGCTTGTGTCTCTTGCTGTCACCATCACCACCAGAGAGCAAGTTTTATAGGGATCAGCTCAAGGCCACATATGCAACTGCCCCTCCAGGGAAATGTGGGTTAGTGGGCTCTTCCATCTCAGAGGTATTCCATGGCATGATGTAGCCCAGGACAGACATACATAATTAATAACAATGTCTGGTAACCCTGGGGATCAGGAAAGGGCCATCTTATAATGAGCTCTTTTGGTGATGTTTATAAAAAGGTCTCTTTGAACAGATGGGATCAAAGAGATCTCTTCCTTGTGCTGACTTTTTTTCCTTTTAAGTGAGGTATAAAACACATACTCTACAGTGCATAATGTACACTCATCCTAAGTGTACAATTCCATTAATCGGTTACATGTGTACACCCATATAATTAACACCCAGGTAAAGATATAGAGCATTTCCAGAATGTCAGGTTTCCTTATGCTTCTTCTCCATCAGTTCCCCATCCCCACCTGAGAGAGAAGCTCAATGCTAACTCCTGTCACCGTTGATTAGTTTTGCCTGTTCTTGAACTTCATAGACGTGGAATCATGCCTTGTGCTGAATCTTGTTTAAGACCATTAAAGTCAAGTCCAGTGAGTGTCCTTCCTTTCTTTCTTAGGCCTTTTTAGAGATGGCTTACACAGAAGCTGCACAGGCCATGGTCCAGTATTATCAAGAAAAATCTGCTGTGATCAATGGTGAGAAGTTGCTCATTCGGATGTCCAAGAGATACAAGGAATTGCAGCTCAAGGTAAAGCATTATCTTGCTCATTCAGTCATTCAACAAGCACCAGATGAGTTTCTCCTCCGTGTTAGGCACTGACCTAAACGCTGGTGGAAAGGAGAGGATAGGAAAAGATTCAGAAATTACACACTGCCTTTGAGGATCTCGAGGCAAACCATTGCAGCATGGCAAGAAAAGTGCTCTTGAGGTAAATACAAAGTGCAAAGAGACGCCTGAGACTACCTGGGAGCCAAGGAAAGTTTTCCAGAAGAAGATGTTCACAGGGGAACTTTTAAAGGAGGAAGTCAGAAGGGAAAGGTGCTGAGAGTTCCAGGCATAAACCCTTGAATACAACCTTCTCTCCCTATACAGACCTTCAGTAACATTTTCTTCTTCTGTCACCCCCTTGATCTCTTGTTCTCTTCTCTCTCCTTCATATTTACGTCTTAAGCCTCATAGAAGTCCTTCTAAGCAGCCCTTGGCTGAATTGGCCACTGTCAGAACTCAGGGATGCATTCAAATAGTTCCAAACCAGGGTTTGCTTTTGTTTTAGCTGATCTACGTTTCTTTCTTTTCTTTCCTTCTTTTTTGTTTTATTGTGAAGTATAACAGAACACACAGAAAAATGGCTGATTATATATTGTATGGTTTAAAAAGTAATAATGGGTGAGATCTCACAAATCCCGTAAAACCACCACCAAAGTCAAGAAATAGAATATGGACAGCATCCAGAAGCTCCCGTGAGTCCCTCCTCCTGTTCAACCCCTCCCTCTCTACTCTCCTGACTTCAATGATAATCATATCTGTGCTTTTCCTTATAGTTCTATCACCTGTATATGCCTCCCTAAACATTATGGTTTAGTTTTGCCTGTTTTTGAACTTTATATAAATGGAATTATGCTGTGTTCTTACAGATCTTGCTTCTTTCATTCAACATGATGCCATCCATGTTGTTGGGCATGTCTATTTATTTTCATTGTTATATACATTTCCATTGTATGGCTATACAGTTTATCCATTCTACTGTTGATGGACATTTGAGTTGTTTTAGGGACAAGGCTAATCTGAACCTTCTCAAACATGTCATCCTGGTATATATGCACTTGAGCATATAACTAGAGGTACATACATAACTAAGATTGAGATAGCTGCATCATAAGGCATGCTTACCTCAACTTTCCTAGATGATAGCAAGCTCTTTCCAAAATTAGTTGTCTCAAATTTATACTCCTACTAGTAGTGTATTAGAGTTTTCGGCCGGGCGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGACCAAGGTGGGTGGATCACGAGGTCAGGGGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTTAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCAACAAAAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAGTTTTCAATGGTCCACATTCTTGCTAACACATTGTCTTGTCCAACTTTTAAATTTTTGCCTGTCGTGGGAGAGTATCATGGTTTATCACAGTTTTGTTTTGTTTTGTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGCGCAGTGGTGCAATTTTGGCTCACTGCAATCTCCACCTCCCAGGTTCAAGCAATTCTCCTTCCCCACCTCCCGAGTAGCTGGGACTACAGGCACACACCACCATGCCTGGCTACTTTTTTTTTTTTTTTTTTTGTATTTTAATAGAGACAGGGTTTCGCCATATTGGCCAGGATGGTCTCAATATCCTGACCTTATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTAC
AAGAAGCCATTCTTAACATAAAGAGGCGATGCCGTAGCTGGCCTTCTGTTGGCATGGCGTAGGTGTTTTTGCTGGTGATGTTTTTTTGTTTCCCCTAGTTTCACTCTAACCTTCTAGTGATAGGTACAGGCCTTTGTGAATTGCCTAGAGGTGAGAGGAGATGCTTTGGAATGAGGTGCTCATTCACATAGAAAGGGTAATTGGCACCCAAAATAAAAATCTATGGACTTGAATCTCTTCACTGTGTTGTCAACCCCCCTGAGCTAATTATAATCTTATCCTCTAAGCCTCTCCTATCTGATGGCCTGGATTTGGAGCCAGCCAAGAACTTGGGACTAGGTATTTTTCCTGGTCCTTGATGTCAGCAGGTGAGGCCCTTTGTCTCACAGCAGGAGAGTAGGAGTGTGAGAATGGATGGATGCTTACTAAGTCTAAGGAACTAAGAATCCTTAACCTGTAGGAGTTGACTGAGCCCTTTGGGATGGAGTACCTTTGTCTTCATTTCTAAAGTCAGGTGGGGAGTTTATACTCCCAACAGTCAGAAATCAGAATATTTTATCTTTTAATGAATATTTTTACTTTATGAATCGGAGGAACAGGCATAGGAAAAATTCTTTTCTTAAAGAAGGCTGAACTTTGGAGACTCATAGCCACATCAGGTCATTAAGCTATCTCTCTCCATCAACCTGGAGTGAGACTACTCACTTGTCTCTGTTCCTACTTCTCAGAAATTCTATTTTGGGTAAATGCACAGAATTCAGCTTGTAACATTGATGTGGTGAGAGTCCCTAGATTAGTATTATTCCCATTTGACAAGTGAGAGCTAGAGGTGCTAAAGTGTTTATCAAGAAAAAGGCACTGAGAAAGCTGGGTGGCAGAATGTGAAATAAAACCCTAAAGAATCTTGACTTCTTAGTCGCCCACGCTAATGCCATAGACTATGACAGCATGGAGAAAAGCTGTGCATCTGAAATTCAGAAATAAATATGAGAGAAGGAAGAGAATGAGCTTGTTTAGATCATTTAGTTTAAGGAAATGAGAGAGTCAGGGGCTCACAGTGAGGGCTTCCCTGTCACCGACCCCTTTTCCCCTGCAGCATTGAGGAATCAGGATCAGTATATTGTCAGTATAGTACAAACCAAACAAATCCAAAAAACAATAGCAGCAACAAATTCACCACACCAACTACTGGGGTAAACTGATGCACAGTCAAAACGGTCTCTTTGGAACTCTCAGTAGACACAGGTTTAGTGGAAAAGCCCATTTGTCTGTGTTTTATCAGAGCAGTTAAATAAAGAAGAAAGATGCTGTGGAAACATAATCGGGAAGTTTTCCTTTTTCTTTAACTCACAACAACATGGCCTTCCTTCAAGCCTAGGGGTTTGTGAGTTCCTGAATTTTTTTATAAGGAAAGTAGAACTCAAATAACCAAAGCTTGTGTCTCTTGCTGTCACCATCACCACCAGAGAGCAAGTTTTATAGGGATCAGCTCAAGGCCACATATGCAACTGCCCCTCCAGGGAAATGTGGGTTAGTGGGCTCTTCCATCTCAGAGGTATTCCATGGCATGATGTAGCCCAGGACAGACATACATAATTAATAACAATGTCTGGTAACCCTGGGGATCAGGAAAGGGCCATCTTATAATGAGCTCTTTTGGTGATGTTTATAAAAAGGTCTCTTTGAACAGATGGGATCAAAGAGATCTCTTCCTTGTGCTGACTTTTTTTCCTTTTAAGTGAGGTATAAAACACATACTCTACAGTGCATAATGTACACTCATCCTAAGTGTACAATTCCATTAATCGGTTACATGTGTACACCCATATAATTAACACCCAGGTAAAGATATAGAGCATTTCCAGAATGTCAGGTTTCCTTATGCTTCTTCTCCATCAGTTCCCCATCCCCACCTGAGAGAGAAGCTCAATGCTAACTCCTGTCACCGTTGATTAGTTTTGCCTGTTCTTGAACTTCATAGACGTGGAATCATGCCTTGTGCTGAATCTTGTTTAAGACCATTAAAGTCAAGTCCAGTGAGTGTCCTTCCTTTCTTAGGCCTTTTTAGAGATGGCTTACACAGAAGCTGCACAGGCCATGGTCCAGTATTATCAAGAAAAATCTGCTGTGATCAATGGTGAGAAGTTGCTCATTCGGATGTCCAAGAGATACAAGGAATTGCAGCTCAAGGTAAAGCATTATCTTGCTCATTCAGTCATTCAACAAGCACCAGATGAGTTTCTCCTCCGTGTTAGGCACTGACCTAAACGCTGGTGGAAAGGAGAGGATAGGAAAAGATTCAGAAATTACACACTGCCTTTGAGGATCTCGAGGCAAACCATTGCAGCATGGCAAGAAAAGTGCTCTTGAGGTAAATACAAAGTGCAAAGAGACGCCTGAGACTACCTGGGAGCCAAGGAAAGTTTTCCAGAAGAAGATGTTCACAGGGGAACTTTTAAAGGAGGAAGTCAGAAGGGAAAGGTGCTGAGAGTTCCAGGCATAAACCCTTGAATACAACCTTCTCTCCCTATACAGACCTTCAGTAACATTTTCTTCTTCTGTCACCCCCTTGATCTCTTGTTCTCTTCTCTCTCCTTCATATTTACGTCTTAAGCCTCATAGAAGTCCTTCTAAGCAGCCCTTGGCTGAATTGGCCACTGTCAGAACTCAGGGATGCATTCAAATAGTTCCAAACCAGGGTTTGCTTTTGTTTTAGCTGATCTACGTTTCTTTCTTTTCTTTCCTTCTTTTTTGTTTTATTGTGAAGTATAACAGAACACACAGAAAAATGGCTGATTATATATTGTATGGTTTAAAAAGTAATAATGGGTGAGATCTCACAAATCCCGTAAAACCACCACCAAAGTCAAGAAATAGAATATGGACAGCATCCAGAAGCTCCCGTGAGTCCCTCCTCCTGTTCAACCCCTCCCTCTCTACTCTCCTGACTTCAATGATAATCATATCTGTGCTTTTCCTTATAGTTCTATCACCTGTATATGCCTCCCTAAACATTATGGTTTAGTTTTGCCTGTTTTTGAACTTTATATAAATGGAATTATGCTGTGTTCTTACAGATCTTGCTTCTTTCATTCAACATGATGCCATCCATGTTGTTGGGCATGTCTATTTATTTTCATTGTTATATACATTTCCATTGTATGGCTATACAGTTTATCCATTCTACTGTTGATGGACATTTGAGTTGTTTTAGGGACAAGGCTAATCTGAACCTTCTCAAACATGTCATCCTGGTATATATGCACTTGAGCATATAACTAGAGGTACATACATAACTAAGATTGAGATAGCTGCATCATAAGGCATGCTTACCTCAACTTTCCTAGATGATAGCAAGCTCTTTCCAAAATTAGTTGTCTCAAATTTATACTCCTACTAGTAGTGTATTAGAGTTTTCGGCCGGGCGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGACCAAGGTGGGTGGATCACGAGGTCAGGGGTTCAAGAGCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTTAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCTAGCCTGGGCAACAAAAGTGAAACTCCGTCTCAAAAAAAAAAAAAAAGTTTTCAATGGTCCACATTCTTGCTAACACATTGTCTTGTCCAACTTTTAAATTTTTGCCTGTCGTGGGAGAGTATCATGGTTTATCACAGTTTTGTTTTGTTTTGTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGCGCAGTGGTGCAATTTTGGCTCACTGCAATCTCCACCTCCCAGGTTCAAGCAATTCTCCTTCCCCACCTCCCGAGTAGCTGGGACTACAGGCACACACCACCATGCCTGGCTACTTTTTTTTTTTTTTTTTTTGTATTTTAATAGAGACAGGGTTTCGCCATATTGGCCAGGATGGTCTCAATATCCTGACCTTATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACNNNN
benign
168,078
Is the genetic mutation found on chromosome 10 at position 110823623, within the gene RBM20 (RNA binding motif protein 20), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
TCTGCTTCCACAAGCTGTCCCAGTGACATGGACGTGGAAATGCCTGGCCTAAATCTGGATGCTGAGCGGAAGCCAGCTGAAAGTGAGACAGGCCTCTCCCTGGAGGATTCAGATTGCTACGAGAAGGAGGCAAAGGGAGTGGAGAGCTCAGATGTTCATCCAGCCCCTACAGTCCAGCAAATGTCTTCCCCTAAGCCAGCAGAGGAGAGGGCCCGGCAGCCAAGCCCATTTGTGGATGATTGCAAGACCAGGGGGACCCCCGAAGATGGGGCTTGTGAAGGCAGCCCCCTGGAGGAGAAAGCCAGCCCCCCCATCGAAACTGACCTCCAAAACCAAGCTTGCCAAGAAGTGTTGACCCCGGGTAACTATCTCCCCTTTCCTCACGGGTGGTCGGGTTGATTGGACTCCTGCTCACCTGATAAAGTATGAGCATGTGCAGGCTGGAATGAACATAAGTAAGGTTTCAACTAGCATTAAAGTGGGTGCAGAAAGTGATTTAGCAACAAAGGCAAGCCTCTAAAAGCCTGGCTAAACTGTTAGTGATTTTAGGCAAGTGGTGTAAAGGAAGTTAGATAGGAGGCTGCATGTTTTCTGAGAAGCAAACTCAGGGCAGACTTCTCTGCATTTACAGGAGCCCAGATGGACTTGGATAACTAAAATTAGACTGGGTTATCAGCAAAAGGAGATCAGGAGGAGCCTCGTGCCTGCACAGCAGAGGGCCACCCAGGCTGTTATTTCTGTGATGGGGGCAAGAGTAGGGGATACAAGAAAGGAGTGGAAGGGGAAGGAACAGAGGATCCTTAAAGGGTACAGCTGTTCCCCTTCTTACTACCTCAGACCCATTTTTTGCTAGGGTCTGACAGTGATACAAGACTTGTTTCAGGATATTCTCTCACTCCATTGGAGGTGACGTTTTGTGCCTATGCCCGGCACTGTGACATCATGAAAGAGAGAGTTTAAAATAGGCTAAGCCCCGTCTTCTCTGCCAAGTGGAACTTAAGATCCATCAGGGGGTTTGGGGGGAGGGAGAGAGAGTAGCCTTTAAGATTCTCACTGTGAAAATAATTAGGGATTTGCTTTACAGAAAGCCTGTAGCACACCAGAGGTTGAAGTGAGAGTCAGGGGCAGAAAATACAGAGGAAAGGCTTAAAAATGAACATTTCAACCCAGGGCCCTGTGGGTGGCATGAGCTGTTAGGTAACTGGGAGGCTTGGGATTTTTTCCATGTCAAGCTGACCTGAGCTGTTTTTTACCTGCACGGATCTGAGTTTCCATGGAAACCCCGCCGTGAAATGCCTTCTTGTTGCTAGAGAAACCGTGAGGCCCAGGCTCTGTCTAGAGAAGGCAAGAATAAAGGAGGAGTGAAATCTTCACCTCACTCCAATCAAGCCCCTTTTATTTTGCGGTATAGGTCTCAACATGTGCCAGTGTTAGAGGCTCATTAACTGACCCAGTGTTTGGGGTTCATATTTAATAACAGCTTGACAAGCTTGGGGAGAGAATGGCATTGCCTGTTTTGCTAGCCTCGGTGGACGTCAGCACAATTTTTGCCCGTCAGTAATTCCTCTGCCTGCAGAGATGGAATGATACTGAGATGGGAGGCATGGGGGGTGGGGGGTGGATCTTCTCAACTGAAGGCATCAGCAGCCCATCCCCCTGGGCCAAATGCAAACATTTGCCAAGTTTTATTGTGTGTGGCATTCTTTTGGCAGTGGAAAAAGCTCCTAATGACAGTGCTTTGGTTCTAATTAGCAACCATTGCCCCAGCCTTATGTGATTAAGCAGTCCAAGGAACAATTCCCAATCATACTATGCAGGCATAGAATTTCAGGGACTCTTTGAGGCATGTTGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGCCTTGGTTCATGTTTTGCAGAAAACTCCAGGTACGTGGAAATGAAATCTCTGGAGGTGAGGTCACCAGAGTACACTGAAGTGGAACTGAAACAGCCCCTTTCTTTGCCCTCTTGGGAACCAGAGGATGTGTTCAGTGAACTTAGCATTCCTCTAGGTAAGCAAAACACACAGTCTTTCCTGAAATTCAGGTCTAGGAAATAACAGTTCCATAGCAACCTCAAGAGCTTGAGAGAGCTTTTTGGCATTTTGTTGTTGACATCGTTTTTTGTTCTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGCAGTGCAGTGGCATGATCTCAGCTCACTGCAGCCTCAAATTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGAAACTTGGACAACAGGTACACACCACCAGGCCCGGCTAATTTTTTTAATTTTTTTTTTTTTTGCAGAGATGGGGTCTCCATATGTGGCCCAGGCTGGTCTTCACCTCCTGGGCTTAAGTGATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGGACTACAGGTGTGAGCCACTTCACCTGGCCGGCCTATCGTTATTTTAAGTGTATGATGCAATAACCTAGATTTGCAAGGGGCGGCTGTAAACTTTCTTGCAATTTCAGTCTCCCGTAATAGACCAGATACTCCGTGAAAACAGCCTTGAATAACAGTGCCCTGGGACCCAGAACTAAGAAGTCCTGTTTTTCCTGTCAGGGAATGCTTTATTCTTGATGACATGGAGTCTTTAAGCCTAGCCTTTATTCAGGCAGGAAAGCAGATGCCCAGCAGCCTCCATAAAGTCAACAAAAATGAACTTCGTCTGCTATTGTTCATTGCTCCAGTCCTTCCCAGAACAATGCTACATATTTTTTTCTCTTTAAAGGACCAACTTTTCTGAGGCAATGATGCTGAATAGAATGTGTTTGGGGCAGACTACCCCTAGTTCATAGAAAGGGTATTGAACAGGGAGACCTGGGTTTCTGTTCTTCCTACTTATGGGTGACTGTGTGCCCTCAGGTAAGTCATACCCCTTCTTGAGCCTTAGTTTCCTCTCTGTAATTTAGACAGCGATTTTTTCAATGGTGGAAGTGTTGGGAATGAAGTGGGGAGGGAGTTTACTGATGGAATCACCTAGGAATGAATCCCTTTTCAAAGAGAAGAGTTAAGCAGAGTCTCAGGGTAGGGAGTGAAGGCACTTTAAGAAAGTTCCCTGGGAGATTCTGACACAACCACTAACCCAGCAACTCCAGCCTACATCATCTTTGAGTCCCCTCGCATTAGCTCTGAAAGGTCGGAATTAGATAAAGTAGTAGTAGCAGCTGCTCAGAAGGAGAGCTCAGGAAAGTGTCACCTGGGAAAGTGTCACAAGGAAGCATAAAAAGCACGGGTCATCTGATGCCTGATGACCACGTGTCTGATCATGCAGGGAGGGGCTGGTCAGTGTGGAGGCTCGTCCTTTCCATCCAACTTGCTCTTTTTTTCCCTTCTCCTTTAAAAAAATCTCTTACTATTTCTTTCCTCCAGGTGTACCATTTTTATAGTCAGATCTGGAGAGCAAACTTCCTTTTTTTTTTAAGGGATAAATTTGCTGCACAGCATCTCCCAAGACAAAAACATAAGAAAGAAGGAAAAAGAAATACTAACTTTAGAATAAACTGAGATGACCCTGGGTATTTTAGCTCTAGAAAACAGTTGCAAAGGCCACCCTGCAGGAGAAGAGAGGGCTCCTTCATGCATTCAGTCAGTCAGCAAATACTTACTGGATAACATGGTACTGTGCTAGACACTCTGGGGTAACCAAGAAATATAACGCAAGTCTCTTGTCATCCAAGAACTTGGAACCTAATTGATACTAGCAAAAATTAAGAATAAATTCTGCTACCTTGTAATTTGTGTTTTACTACTGTTTTTCATTATAGAAAGTGTGAAAGATTATTGTAACAAATTCAAAAAATAAGAACCATATCAAGTCAATATTAAAGGTCTGATTGATCTCTTCCCTCCAGTCTCTCCCCAGTCTCCAGAGGTAGCCTACCACTGTCATGCCCAGTTTTTCTCTCACAAAAATGGGATCACACTACACACATAATGTTCTGCAAGTTCACTTAGTAGCAGGTCTTAGACATTTCTTCATGTCAGTACATAGAGAACACATTCTTTTTAACCACTGCAAATATTCCATCGTAAAA
TCTGCTTCCACAAGCTGTCCCAGTGACATGGACGTGGAAATGCCTGGCCTAAATCTGGATGCTGAGCGGAAGCCAGCTGAAAGTGAGACAGGCCTCTCCCTGGAGGATTCAGATTGCTACGAGAAGGAGGCAAAGGGAGTGGAGAGCTCAGATGTTCATCCAGCCCCTACAGTCCAGCAAATGTCTTCCCCTAAGCCAGCAGAGGAGAGGGCCCGGCAGCCAAGCCCATTTGTGGATGATTGCAAGACCAGGGGGACCCCCGAAGATGGGGCTTGTGAAGGCAGCCCCCTGGAGGAGAAAGCCAGCCCCCCCATCGAAACTGACCTCCAAAACCAAGCTTGCCAAGAAGTGTTGACCCCGGGTAACTATCTCCCCTTTCCTCACGGGTGGTCGGGTTGATTGGACTCCTGCTCACCTGATAAAGTATGAGCATGTGCAGGCTGGAATGAACATAAGTAAGGTTTCAACTAGCATTAAAGTGGGTGCAGAAAGTGATTTAGCAACAAAGGCAAGCCTCTAAAAGCCTGGCTAAACTGTTAGTGATTTTAGGCAAGTGGTGTAAAGGAAGTTAGATAGGAGGCTGCATGTTTTCTGAGAAGCAAACTCAGGGCAGACTTCTCTGCATTTACAGGAGCCCAGATGGACTTGGATAACTAAAATTAGACTGGGTTATCAGCAAAAGGAGATCAGGAGGAGCCTCGTGCCTGCACAGCAGAGGGCCACCCAGGCTGTTATTTCTGTGATGGGGGCAAGAGTAGGGGATACAAGAAAGGAGTGGAAGGGGAAGGAACAGAGGATCCTTAAAGGGTACAGCTGTTCCCCTTCTTACTACCTCAGACCCATTTTTTGCTAGGGTCTGACAGTGATACAAGACTTGTTTCAGGATATTCTCTCACTCCATTGGAGGTGACGTTTTGTGCCTATGCCCGGCACTGTGACATCATGAAAGAGAGAGTTTAAAATAGGCTAAGCCCCGTCTTCTCTGCCAAGTGGAACTTAAGATCCATCAGGGGGTTTGGGGGGAGGGAGAGAGAGTAGCCTTTAAGATTCTCACTGTGAAAATAATTAGGGATTTGCTTTACAGAAAGCCTGTAGCACACCAGAGGTTGAAGTGAGAGTCAGGGGCAGAAAATACAGAGGAAAGGCTTAAAAATGAACATTTCAACCCAGGGCCCTGTGGGTGGCATGAGCTGTTAGGTAACTGGGAGGCTTGGGATTTTTTCCATGTCAAGCTGACCTGAGCTGTTTTTTACCTGCACGGATCTGAGTTTCCATGGAAACCCCGCCGTGAAATGCCTTCTTGTTGCTAGAGAAACCGTGAGGCCCAGGCTCTGTCTAGAGAAGGCAAGAATAAAGGAGGAGTGAAATCTTCACCTCACTCCAATCAAGCCCCTTTTATTTTGCGGTATAGGTCTCAACATGTGCCAGTGTTAGAGGCTCATTAACTGACCCAGTGTTTGGGGTTCATATTTAATAACAGCTTGACAAGCTTGGGGAGAGAATGGCATTGCCTGTTTTGCTAGCCTCGGTGGACGTCAGCACAATTTTTGCCCGTCAGTAATTCCTCTGCCTGCAGAGATGGAATGATACTGAGATGGGAGGCATGGGGGGTGGGGGGTGGATCTTCTCAACTGAAGGCATCAGCAGCCCATCCCCCTGGGCCAAATGCAAACATTTGCCAAGTTTTATTGTGTGTGGCATTCTTTTGGCAGTGGAAAAAGCTCCTAATGACAGTGCTTTGGTTCTAATTAGCAACCATTGCCCCAGCCTTATGTGATTAAGCAGTCCAAGGAACAATTCCCAATCATACTATGCAGGCATAGAATTTCAGGGACTCTTTGAGGCATGTTGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGCCTTGGTTCATGTTTTGCAGAAAACTCCAGGTACGTGGAAATGAAATCTCTGGAGGTGAGGTCACCAGAGTACACTGAAGTGGAACTGAAACAGCCCCTTTCTTTGCCCTCTTGGGAACCAGAGGATGTGTTCAGTGAACTTAGCATTCCTCTAGGTAAGCAAAACACAGTCTTTCCTGAAATTCAGGTCTAGGAAATAACAGTTCCATAGCAACCTCAAGAGCTTGAGAGAGCTTTTTGGCATTTTGTTGTTGACATCGTTTTTTGTTCTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGCAGTGCAGTGGCATGATCTCAGCTCACTGCAGCCTCAAATTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGAAACTTGGACAACAGGTACACACCACCAGGCCCGGCTAATTTTTTTAATTTTTTTTTTTTTTGCAGAGATGGGGTCTCCATATGTGGCCCAGGCTGGTCTTCACCTCCTGGGCTTAAGTGATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGGACTACAGGTGTGAGCCACTTCACCTGGCCGGCCTATCGTTATTTTAAGTGTATGATGCAATAACCTAGATTTGCAAGGGGCGGCTGTAAACTTTCTTGCAATTTCAGTCTCCCGTAATAGACCAGATACTCCGTGAAAACAGCCTTGAATAACAGTGCCCTGGGACCCAGAACTAAGAAGTCCTGTTTTTCCTGTCAGGGAATGCTTTATTCTTGATGACATGGAGTCTTTAAGCCTAGCCTTTATTCAGGCAGGAAAGCAGATGCCCAGCAGCCTCCATAAAGTCAACAAAAATGAACTTCGTCTGCTATTGTTCATTGCTCCAGTCCTTCCCAGAACAATGCTACATATTTTTTTCTCTTTAAAGGACCAACTTTTCTGAGGCAATGATGCTGAATAGAATGTGTTTGGGGCAGACTACCCCTAGTTCATAGAAAGGGTATTGAACAGGGAGACCTGGGTTTCTGTTCTTCCTACTTATGGGTGACTGTGTGCCCTCAGGTAAGTCATACCCCTTCTTGAGCCTTAGTTTCCTCTCTGTAATTTAGACAGCGATTTTTTCAATGGTGGAAGTGTTGGGAATGAAGTGGGGAGGGAGTTTACTGATGGAATCACCTAGGAATGAATCCCTTTTCAAAGAGAAGAGTTAAGCAGAGTCTCAGGGTAGGGAGTGAAGGCACTTTAAGAAAGTTCCCTGGGAGATTCTGACACAACCACTAACCCAGCAACTCCAGCCTACATCATCTTTGAGTCCCCTCGCATTAGCTCTGAAAGGTCGGAATTAGATAAAGTAGTAGTAGCAGCTGCTCAGAAGGAGAGCTCAGGAAAGTGTCACCTGGGAAAGTGTCACAAGGAAGCATAAAAAGCACGGGTCATCTGATGCCTGATGACCACGTGTCTGATCATGCAGGGAGGGGCTGGTCAGTGTGGAGGCTCGTCCTTTCCATCCAACTTGCTCTTTTTTTCCCTTCTCCTTTAAAAAAATCTCTTACTATTTCTTTCCTCCAGGTGTACCATTTTTATAGTCAGATCTGGAGAGCAAACTTCCTTTTTTTTTTAAGGGATAAATTTGCTGCACAGCATCTCCCAAGACAAAAACATAAGAAAGAAGGAAAAAGAAATACTAACTTTAGAATAAACTGAGATGACCCTGGGTATTTTAGCTCTAGAAAACAGTTGCAAAGGCCACCCTGCAGGAGAAGAGAGGGCTCCTTCATGCATTCAGTCAGTCAGCAAATACTTACTGGATAACATGGTACTGTGCTAGACACTCTGGGGTAACCAAGAAATATAACGCAAGTCTCTTGTCATCCAAGAACTTGGAACCTAATTGATACTAGCAAAAATTAAGAATAAATTCTGCTACCTTGTAATTTGTGTTTTACTACTGTTTTTCATTATAGAAAGTGTGAAAGATTATTGTAACAAATTCAAAAAATAAGAACCATATCAAGTCAATATTAAAGGTCTGATTGATCTCTTCCCTCCAGTCTCTCCCCAGTCTCCAGAGGTAGCCTACCACTGTCATGCCCAGTTTTTCTCTCACAAAAATGGGATCACACTACACACATAATGTTCTGCAAGTTCACTTAGTAGCAGGTCTTAGACATTTCTTCATGTCAGTACATAGAGAACACATTCTTTTTAACCACTGCAAATATTCCATCGTAAAANN
benign
168,189
Regarding the variant at chromosome 10 and position 110965075, affecting gene SHOC2 (SHOC2 leucine rich repeat scaffold protein): benign or pathogenic? If pathogenic, what are the associated illness(es)?
benign
TATCACATCCTTTTGGTAGTCTGACAAAATTCTAATAACTGTTTTAACCTCTTAAGCTAGTCAGGTAAGAAGTTATTTTATCTTTAATCCCTAGTACCAAATAATTACCAGTTAGTTAAATAGAGTTAACAATAGAGTCATAAAATAAGAATTACTAATTTTAAATTTCAAAATGTTTAGGGAGGACTGATTCCTTCCATAAATATTTTACTAATCTTTTTGTCCTTTGCCAATCTTTTCGGCCTGTCATTTTACCAGCAGACTTTTTCTGCTTTTAAGAACCCTGTGCCATTGATCTTTCTTTTTCAGTCCCTAGAATATACACATCATTGGACATTGCCCTTTGTCACTGGTTTTCAAAGGTGATCCTCAGGTCTACCTCCATCAGAATCATGTAGAGTGCTTATTAAAGTACAGATTATTAATGCCCCTTTCCCTGAACTGTGCTGTTTTTCATACATATTTCACTTTGTTCTTTTTTTTTCTTTTGCCAGACTGCTCTCTCTTCTATCGTCACCACCACTGAAATCCTTTCTGTTATCTAAAGCTATCCGCCAATTAATTGTAGCTAGAACTGTTTTAGTGTAGTGGGTTAGGAACATAGGCTGTGAGCACATACTACCTAATTTGGAATATTGGCTCCATCATGTTTCCAAGATCTCAGAGTTAGTTACTTAAAAATATTTCTGTGCTTTAGTGTTTCTTTGTATAAAATGGGGATAACAATGTATCTCATAGGGCTGTTGTATGTGTTATATTAATACATGTGAATTCCTCAGAATAATGCTAGTACATAGAAAGCACTTAATAAATATTAAGCTTATTGTTGTGGTTTCTTCCACTTTTTAGGTCTTATAAAATTTTCTAGTAAAGTAACTTACATTCATACATCTTCCTATTAGATTGCAAGTTTCTTGAAGGTAGAGCCAGCCTTATTAAGCTGTGTAGTTTTAAATGGATTTTTACCTATAAAGGATGTTCATAAATATTTGAGAATGAAATCATAGGAAAATGGCAAACTCTAATAAGATTGTTTTTCAGAGCCTATTTAATATAAATTATCTAAAGTAATTTAATACTGTCTATATTATATTTCAGGAACTCTAATGAATCATTGATTGACCAGCACTATTTTACCAGTTGGAATGAATGATCAGAAATGGGCATAGTGCTTTTAGATCCAACATGTAACAGATGGATGTTACTCCATGCTGATTACTTCTTCAAGCCAGTACTTTTTTGATTGTGTAGGATCTTTGTCTCTTCATCTTTGAATTCAATTACTGGAAAATAAAAGGAGTTCATGTAGTTTTTGTCCAGGCTTGAGTCACCATGAGTAGTAGTTTAGGAAAAGAAAAAGACTCTAAAGAAAAAGATCCCAAAGTACCATCAGCCAAGGAAAGAGAAAAGGAGGCAAAAGCCTCTGGAGGTTTTGGGAAAGAGAGCAAAGAAAAAGAACCTAAGACCAAAGGGAAAGATGCCAAAGATGGAAAGAAGGACTCCAGTGCTGCCCAACCAGGGGTGGCATTTTCAGTTGACAATACGATCAAACGGCCAAACCCAGCACCTGGGACTAGAAAAAAATCCAGCAATGCAGAGGTGATTAAAGAGCTCAACAAATGCCGGGAAGAGAATTCAATGCGTTTGGACTTATCCAAGAGATCTATACACATATTGCCATCATCAATCAAAGAGTTGACTCAATTAACAGAACTTTATTTATACAGTAACAAATTGCAGTCCCTCCCAGCAGAGGTGGGATGTTTAGTAAATCTCATGACACTGGCTCTAAGTGAAAATTCACTTACCAGTTTGCCTGACTCTCTTGATAACTTGAAGAAGCTGCGGATGCTTGATTTACGGCATAATAAACTGAGAGAAATTCCTTCAGTGGTGTATAGGCTGGATTCTCTCACCACTCTTTACCTTCGCTTTAATCGTATAACTACTGTGGAAAAGGACATCAAAAACTTGTCAAAACTCAGCATGCTTAGCATTCGAGAGAACAAAATTAAACAACTACCTGCTGAAATTGGTAAGAGGCCTTGGATTATTATTATTTGTAGTATTTGTTATGCTAAATAATTTTGAGTGCTTTCTCATATCAAAAAATGCCTGATACTTGCCTAAAAACAGCTTATTTCTAAATTACAACTTTTTTATGGTTTACTTTATTCCATTTTCAGCACTGTTAATAGTACATGGCTTGAAATTGTTTCATAGACTTAAAAAGTGAGTTAGAAAATAGATGTAATTAGATCTTTCCCACACAAACCTAATCTTTAACTTTCATTGGAGAATAAGTAAATTTAAAGAAGAAAAGATGTTTGCCTAATTTTCAAGTTGTTGCTGTGTTTAAAGTATCTGTTGATACAATTTTATTAGATATATGAAAACTACATTTTCTCATTCTCTGACTTTTCCACCTTTATCTGAAAGATGTTTAAATTCACATCACTTTCTACCTAATTTACCACAAAAGGTTGACAAATCAGAGCCTTACAAAAGAGCAGTGTCATAAGAAATAGAAAAAAAATTTTTTTTTGCATCTTGAAAGTACTTACATGTTTATTAAAAATAACACAAGAATTTAGAAGGGTAGAAGAAACGTCACCTGTAGTGAATGCAGCACTGTTACCATTTTGCTAATTTTCATTCCAGTCTTTCACATAAAGCTAACTTGTACTAAAACAAAGAAAATGTTTTTTAAAGGCTGGTAGTAGGAGAAAAAAATAGGGAATATAAACGCGTGAACATGTCAGTAAAAAATTAAAAATTAGTTCTGGCATTTTTAATTATGGAAAAACATTCTGAAACATTTGGAATATAGTAATCCATTGACATCAGTTTTGAAAAATTGATAAAGGTATTGCCTCTGTGGGCCCTTTTTATAAGATTTGTAAAAATTGTCATAAGAAGTTGATTATGAAGCTTTTTAAAGGATGTTTTCTTTTTGTATTAAAGGCAATTTATTCTGAGAAAAATAAAGATTATATTTTTGTTGCTTTCAGCATTGGTCTTATAATGAGTGATAAACTTTCTGATTTTTAGGTTTTGCAGCTTTTCAAAGATATGATATTCTGTGGGTGTTTTAATATTTTGTTTAGCTTTGAAAAAAGATGTGGTTTAAATTTTAGGTATGACTTGTTACATTTAACTCTTAACTAGACAATCCAAATATTAATTAAATTTTGGTTTAATTTAATGTGTTTAGAAAATTTATGATAGGTTTTCTCAAGTAATATACTGTAGAGTATGACTTACTCACGAGATATTAAAATATTCCCAGGAATTTCTGGGTGAAAATGTTCCATTCCATGTCTTCAGATAGGAATGTGGTTGTTGAATGACTTGTTTTAGTGTCATATTTAGTCAAAATTTGACCTGCATGTTATGGCTCATTGTGGAATAGAATTATAGGCAATTGGAGAAATAAATGCTGAATTTCTACATAGAAATATAAAAGTTACTTCCTGTCTTTGTTCTTGTTGTTTTGTGTATGTGTTACACTCAGTCCTAAAAGTCTAGCTTTAATTCACAAGTCTCTAAGGACTTTTTCCATAGCAATGCTATCAAATTACCTAGGAATTAAGAATATACATATATGTTCTTGAGCATATAGATAGCATTTTTACTAAAAAGTGAATGTATCTTTTAAAATTGGCATATTTTAAGTAATTATGTGGCTTATATTTGTGGCTACCTAATCTTTTGACCTTTATTCCTAAATTGTAATTTTAAAAACAGCCATTGAATTTGTTAATGGGCTCCTTCCCATCATTAGTGACATTACTGAAGTTTGTGTTTTTGTAATTGCTGTACTTCTGTAAAAATGGTAATATCATAAATGTTGCTTATTTCATTCTAAGCAGGGCATCAGAAAGTAAACTGCTTTTAAAAGTATAATGTTTTTCATAAGGAATTATGATTTATAAAGTTTAACTTAGATACATGGATCTGGGGCAAACATGCAGAAGTCTGGGTCATCTGTTTCTTTATAGGGAACAAGAAAATAAAGGTTAGTAAAAATAACATCATAATAATAAGGATGGCTGTTGTTTGAGCCCATGAATCATAATACTATACATTGTTCTGT
TATCACATCCTTTTGGTAGTCTGACAAAATTCTAATAACTGTTTTAACCTCTTAAGCTAGTCAGGTAAGAAGTTATTTTATCTTTAATCCCTAGTACCAAATAATTACCAGTTAGTTAAATAGAGTTAACAATAGAGTCATAAAATAAGAATTACTAATTTTAAATTTCAAAATGTTTAGGGAGGACTGATTCCTTCCATAAATATTTTACTAATCTTTTTGTCCTTTGCCAATCTTTTCGGCCTGTCATTTTACCAGCAGACTTTTTCTGCTTTTAAGAACCCTGTGCCATTGATCTTTCTTTTTCAGTCCCTAGAATATACACATCATTGGACATTGCCCTTTGTCACTGGTTTTCAAAGGTGATCCTCAGGTCTACCTCCATCAGAATCATGTAGAGTGCTTATTAAAGTACAGATTATTAATGCCCCTTTCCCTGAACTGTGCTGTTTTTCATACATATTTCACTTTGTTCTTTTTTTTTCTTTTGCCAGACTGCTCTCTCTTCTATCGTCACCACCACTGAAATCCTTTCTGTTATCTAAAGCTATCCGCCAATTAATTGTAGCTAGAACTGTTTTAGTGTAGTGGGTTAGGAACATAGGCTGTGAGCACATACTACCTAATTTGGAATATTGGCTCCATCATGTTTCCAAGATCTCAGAGTTAGTTACTTAAAAATATTTCTGTGCTTTAGTGTTTCTTTGTATAAAATGGGGATAACAATGTATCTCATAGGGCTGTTGTATGTGTTATATTAATACATGTGAATTCCTCAGAATAATGCTAGTACATAGAAAGCACTTAATAAATATTAAGCTTATTGTTGTGGTTTCTTCCACTTTTTAGGTCTTATAAAATTTTCTAGTAAAGTAACTTACATTCATACATCTTCCTATTAGATTGCAAGTTTCTTGAAGGTAGAGCCAGCCTTATTAAGCTGTGTAGTTTTAAATGGATTTTTACCTATAAAGGATGTTCATAAATATTTGAGAATGAAATCATAGGAAAATGGCAAACTCTAATAAGATTGTTTTTCAGAGCCTATTTAATATAAATTATCTAAAGTAATTTAATACTGTCTATATTATATTTCAGGAACTCTAATGAATCATTGATTGACCAGCACTATTTTACCAGTTGGAATGAATGATCAGAAATGGGCATAGTGCTTTTAGATCCAACATGTAACAGATGGATGTTACTCCATGCTGATTACTTCTTCAAGCCAGTACTTTTTTGATTGTGTAGGATCTTTGTCTCTTCATCTTTGAATTCAATTACTGGAAAATAAAAGGAGTTCATGTAGTTTTTGTCCAGGCTTGAGTCACCATGAGTAGTAGTTTAGGAAAAGAAAAAGACTCTAAAGAAAAAGATCCCAAAGTACCATCAGCCAAGGAAAGAGAAAAGGAGGCAAAAGCCTCTGGAGGTTTTGGGAAAGAGAGCAAAGAAAAAGAACCTAAGACCAAAGGGAAAGATGCCAAAGATGGAAAGAAGGACTCCAGTGCTGCCCAACCAGGGGTGGCATTTTCAGTTGACAATACGATCAAACGGCCAAACCCAGCACCTGGGACTAGAAAAAAATCCAGCAATGCAGAGGTGATTAAAGAGCTCAACAAATGCCGGGAAGAGAATTCAATGCGTTTGGACTTATCCAAGAGATCTATACACATATTGCCATCATCAATCAAAGAGTTGACTCAATTAACAGAACTTTATTTATACAGTAACAAATTGCAGTCCCTCCCAGCAGAGGTGGGATGTTTAGTAAATCTCATGACACTGGCTCTAAGTGAAAATTCACTTACCAGTTTGCCTGACTCTCTTGATAACTTGAAGAAGCTGCGGATGCTTGATTTACGGCATAATAAACTGAGAGAAATTCCTTCAGTGGTGTATAGGCTGGATTCTCTCACCACTCTTTACCTTCGCTTTAATCGTATAACTACTGTGGAAAAGGACATCAAAAACTTGTCAAAACTCAGCATGCTTAGCATTCGAGAGAACAAAATTAAACAACTACCTGCTGAAATTGGTAAGAGGCCTTGGATTATTATTTGTAGTATTTGTTATGCTAAATAATTTTGAGTGCTTTCTCATATCAAAAAATGCCTGATACTTGCCTAAAAACAGCTTATTTCTAAATTACAACTTTTTTATGGTTTACTTTATTCCATTTTCAGCACTGTTAATAGTACATGGCTTGAAATTGTTTCATAGACTTAAAAAGTGAGTTAGAAAATAGATGTAATTAGATCTTTCCCACACAAACCTAATCTTTAACTTTCATTGGAGAATAAGTAAATTTAAAGAAGAAAAGATGTTTGCCTAATTTTCAAGTTGTTGCTGTGTTTAAAGTATCTGTTGATACAATTTTATTAGATATATGAAAACTACATTTTCTCATTCTCTGACTTTTCCACCTTTATCTGAAAGATGTTTAAATTCACATCACTTTCTACCTAATTTACCACAAAAGGTTGACAAATCAGAGCCTTACAAAAGAGCAGTGTCATAAGAAATAGAAAAAAAATTTTTTTTTGCATCTTGAAAGTACTTACATGTTTATTAAAAATAACACAAGAATTTAGAAGGGTAGAAGAAACGTCACCTGTAGTGAATGCAGCACTGTTACCATTTTGCTAATTTTCATTCCAGTCTTTCACATAAAGCTAACTTGTACTAAAACAAAGAAAATGTTTTTTAAAGGCTGGTAGTAGGAGAAAAAAATAGGGAATATAAACGCGTGAACATGTCAGTAAAAAATTAAAAATTAGTTCTGGCATTTTTAATTATGGAAAAACATTCTGAAACATTTGGAATATAGTAATCCATTGACATCAGTTTTGAAAAATTGATAAAGGTATTGCCTCTGTGGGCCCTTTTTATAAGATTTGTAAAAATTGTCATAAGAAGTTGATTATGAAGCTTTTTAAAGGATGTTTTCTTTTTGTATTAAAGGCAATTTATTCTGAGAAAAATAAAGATTATATTTTTGTTGCTTTCAGCATTGGTCTTATAATGAGTGATAAACTTTCTGATTTTTAGGTTTTGCAGCTTTTCAAAGATATGATATTCTGTGGGTGTTTTAATATTTTGTTTAGCTTTGAAAAAAGATGTGGTTTAAATTTTAGGTATGACTTGTTACATTTAACTCTTAACTAGACAATCCAAATATTAATTAAATTTTGGTTTAATTTAATGTGTTTAGAAAATTTATGATAGGTTTTCTCAAGTAATATACTGTAGAGTATGACTTACTCACGAGATATTAAAATATTCCCAGGAATTTCTGGGTGAAAATGTTCCATTCCATGTCTTCAGATAGGAATGTGGTTGTTGAATGACTTGTTTTAGTGTCATATTTAGTCAAAATTTGACCTGCATGTTATGGCTCATTGTGGAATAGAATTATAGGCAATTGGAGAAATAAATGCTGAATTTCTACATAGAAATATAAAAGTTACTTCCTGTCTTTGTTCTTGTTGTTTTGTGTATGTGTTACACTCAGTCCTAAAAGTCTAGCTTTAATTCACAAGTCTCTAAGGACTTTTTCCATAGCAATGCTATCAAATTACCTAGGAATTAAGAATATACATATATGTTCTTGAGCATATAGATAGCATTTTTACTAAAAAGTGAATGTATCTTTTAAAATTGGCATATTTTAAGTAATTATGTGGCTTATATTTGTGGCTACCTAATCTTTTGACCTTTATTCCTAAATTGTAATTTTAAAAACAGCCATTGAATTTGTTAATGGGCTCCTTCCCATCATTAGTGACATTACTGAAGTTTGTGTTTTTGTAATTGCTGTACTTCTGTAAAAATGGTAATATCATAAATGTTGCTTATTTCATTCTAAGCAGGGCATCAGAAAGTAAACTGCTTTTAAAAGTATAATGTTTTTCATAAGGAATTATGATTTATAAAGTTTAACTTAGATACATGGATCTGGGGCAAACATGCAGAAGTCTGGGTCATCTGTTTCTTTATAGGGAACAAGAAAATAAAGGTTAGTAAAAATAACATCATAATAATAAGGATGGCTGTTGTTTGAGCCCATGAATCATAATACTATACATTGTTCTGTNNN
benign
168,247
Clinical classification of chromosome 10, position 111004593, gene SHOC2 (SHOC2 leucine rich repeat scaffold protein): benign or pathogenic? Disease(s) if pathogenic?
benign
TACATGTATTGTCTCATTTAATCTTTATCATAAACCTACTAGTTATTGGAGTATCCTCATCAAACAGATAGCGAAATAAGGCTTAAGAGAGGTTATATTTTTGGCCAAATTTGTTACTTTAAATATTTTTCTGGAAGTATGGTAAGAGGTATATTGATTATCTAATTAATCCACCAAAGTTGACAAAACTTAGTAGAAGGTGTAAAATAGAAGCCTAGATGTGTCTCATTCTAACAAAAAAAAAAAAATGATAAGCAACCCCTGCTTCACAATGTGACTAAGAAATGAGAGCTTGAAGAGCTGGCTTCTTGTTGCCCCTTCTCAAATATACTCAGTATTAACATTTTATCATAAGAGTCAATTCAATAAAGTAAGTCAGTTGTAAGAATAAAAAGAATCACATTTTTTGCCATGAGGCTCAGTAAAACTCCTTTATTTTCAATCGTGTAGCCTGTAGAGATTTTTCCTGAATTGACTGCCATGCAGTTTTCTTGCCACTGTTTTACCTCTGTTGTTCCTTTTGTTTCTGTACAACAATACACAAATTTTAAGGGTAGCTTCTTAAGGTACAGTATAAAGAACAAGTTTCAGTTCTCTGTATAGTTATATCCTCAATTATATAGTTACTTCATTCCTTCAGATGGCTTTGCCAATTATACTGTCACCTCAAGTACTAAGTTTTCAATTTGCTGATGGTGGACAACTGAAGTTTGAACATTATTTTAAAAACATACATACCTCATACAGTGCTTGCTTCTCCCTGCTTGTGCTTTTACTTTGAATCTAGAGTGTTTCTTCTATTTCTCTGAGTATTTTAAAATGTTTTCATCCTTCAAGATCTAGCTCACTGTCAGCTTTCATCCTATTTTTCCAGTTATTCCAGTTTTCCTTGCTTTGAATTTAAATAGAGAAAGGACTTAAAATTTAAGCACTTACTTCCTACTAGGTATTGTTAACTTATTTATGTATTTTATCGCTTTTAGTCTTCACTATGGCCCATAAAATATTATTATTTAAAAAATGATACACTAGGTTCGGAAAAATAACTTGCCAAAGTCACAAGCTATTTAAAGATAGAGTCAGGATTCAAAACAGTTTATAGCCTGTACAGGATTTCTCAGATGTTAATGAGCATGCAGATCACCTGGGAATCTTGTTAAAATGCATATTATGATTCAGTGGGAGTGGGGCCCAAGAGTCTGCATTTCTCACGAGCTCCCAGGGGATGCTGATATTGCTCTTCCTTGGCCCAGACTTTGAATAGCAAGAGCCTATTATATATAATTGATTATTGATTATATACGGTCGTATATTATTTTCTAATTATTTCTTACCTATGTACTTCTATAAATAGAGCTTAATCTTCTTTACCGCAGAGATTCTTTGGTAATACCTGAATATTTTAATACTTTGGTTAAATGGTGAGAGGCTAAAGTAGGGCAAGATGGGGTTATGTGCTAAGTAAATACTTGTTTAATGGGTACATATATGCCCTCAGAAATTTTACCATATAGAAAAGCGGTGTATTATACAGTATCAGGAAGCATAATCATCTACTGAATTTAATAGTTCCTAAAAGGAATCTTTATGTTAATCTTAATAATTTAGAGAGAGGTATATGACTAAGACTAGGTAGGATTGGTCACACAGCCAGTGGCAGAGACAGGGCTCAGACCTGGGACTGTCTGACACTAAAGTTTCTGCAATGTAGAAGTTTCAAATTAGTCACCCATGAGGCACCTCTCACACACAGACATGTTTTCCTTACTCCATACAGTGTTTTAAATAAATTGAAGCCAAAGAATAAAAATTGGGAAAATTTTCTGTTTCCTCCTATAAAATCTGGAAGTCTACATTGGTTCCACATTTCTGCAAGGCACCAAACTGCTAGAACTGTGTAGTGACTGTCCCTGTAGAGAAGTGTCACAGACTGCCCCAACCAGTCTCTGTCATTTGTCACCCCCCAAAGCCCTTTGAGGCATTTGTGTTGGGACTGCTGTTCTATAAAAAATGAGTCTCATCACAGTTCTAATTCTTATGTTTATTTCATTTTTTTTACAGAGTCTTTTATCAAGTCTTGTGAAACTGAATAGTTTGACCTTAGCTAGAAATTGCTTCCAGTTGTATCCAGTGGGTGGTCCATCTCAGTTTTCTACCATCTATTCCCTCAACATGGAACACAATCGAATCAACAAAATTCCATTTGGAATTTTCTCCAGAGCAAAAGTATTAAGTAAGCTGAATATGAAGGTAAGCATATATTTGTTTACTAGGGAAAGGAATTGCTTTAATTGGTACTTCCACTAATATTTATGTTTTCTCTAATTGTGTGGGGAGTGGGTACTTGTACCTTGCTGATGGGTCTAAACTGATCATAAGACATGTCAGGGTACTTTGTATCAGATAACAAATATCTTAGAACTGAGCATACCCTTAGGATTTTGTCCTAAAGAAATCATTGTCCAGCTCAGTGGCTGATGCACCTGTAATCCCAGTGCTTTGGAAGGCTAAGGTGGGAGGATCCCTGGAGGCTAGGAGTTCAGGACCAGCTTGGGCAATATAGTGAGACCTTGTCTCGCAAAAATTTTTTAAAAATTAGCTGGCCTGTGGTACCAGCTACATGGAAGGCTAGGGCAGGAGGATGGCTTGAGCCTGGGAGTTCAAGGCTGCAGTGAGTTATGATGGCACCACTGCACTCCAGCCTAGGCAAGAGAGCAAGACCCTGTTCCCCATCCCCCCAAAAAAGGAAATATGAATGTCTATAAAAGTATAGTTGTAGGGATATGTATTGCAGAGCTATCTATTTCATAGGTACCAACTTATTAATAGAGATTTAATTTTGTTAAGTAGTTTATCTTTAGTGGAATACTGTGGAGCCATTAAAAATCATATTTTGGTCTAAAAGAACACTACGTACTAGTTGAAATATTCTCATTTTATCAAGTGGAAGAAAGTTAAAGCATGTAAAAAATCTCTTCCCACCCAGAATTTTTGAAAGCTGTTTTTAATATGCTTAATTGTATATTAAATATCTTTATATTTATACGTATAGCTGGTTTTTGCCAAAATGTTTAGAGATCAGAATTATTTATGGGTGAACGTTAGTTTCCTTTTGCTTACCCACTCTACAGTGATCGAGTTTCACCTTTGTAATGAAATTCATTGCAAAAGGAGAAAACAAATGGAAAATTATCAAGTTCAGTGATTTAATTTGTACTGGACAAACTTTAGGCCCAAGGAAGGTAACTGAATTGGCCACATAGCTGATAGTATTCTTCCTGTCATGATGAACCATTTGAACATAGTTGTGGTTCTTTAAACTATAATCTTAAATGTACAATTTTTAAATTTCATCCACACTTGCTCATAAATATGGTGTGTATCTTTTATGATGATTCTTTGGAAGTATATGATAAGTAAACTAATGGAAATTCAAGATACTCATACAGTTTTAACAATTGTAAAATTTCTTGTTAATCAGTCTGGTTATATGAGATTTAACAGTGGTAATGGTGTTGATTCTGAACATTCATTTTGTAGTAATAGGCTTAAAACACAATGGTTCAGGTGTTCATTAGTTTATGCATTTGCATGTAAGTAACAGTAGTAAATTTTTAAAAATGAAAATACTTTATAAATCATACTATAAGTGTCAGTAGTTTAGGCATAGATAGGTACTAAGCTTAAATATTACATAGATAACAAGTTTAAATATTACAATAAAAGAAAAAGTGGGTTTTCAAATGGATGCTTGCTACTTGGGATTTCTTTTATGGGTCATTTTGTGTGAAATGAGACAATCCATGTGCAATGCAGCAAATTTTTTTTTGTTGTTGTTGTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG
TACATGTATTGTCTCATTTAATCTTTATCATAAACCTACTAGTTATTGGAGTATCCTCATCAAACAGATAGCGAAATAAGGCTTAAGAGAGGTTATATTTTTGGCCAAATTTGTTACTTTAAATATTTTTCTGGAAGTATGGTAAGAGGTATATTGATTATCTAATTAATCCACCAAAGTTGACAAAACTTAGTAGAAGGTGTAAAATAGAAGCCTAGATGTGTCTCATTCTAACAAAAAAAAAAAAATGATAAGCAACCCCTGCTTCACAATGTGACTAAGAAATGAGAGCTTGAAGAGCTGGCTTCTTGTTGCCCCTTCTCAAATATACTCAGTATTAACATTTTATCATAAGAGTCAATTCAATAAAGTAAGTCAGTTGTAAGAATAAAAAGAATCACATTTTTTGCCATGAGGCTCAGTAAAACTCCTTTATTTTCAATCGTGTAGCCTGTAGAGATTTTTCCTGAATTGACTGCCATGCAGTTTTCTTGCCACTGTTTTACCTCTGTTGTTCCTTTTGTTTCTGTACAACAATACACAAATTTTAAGGGTAGCTTCTTAAGGTACAGTATAAAGAACAAGTTTCAGTTCTCTGTATAGTTATATCCTCAATTATATAGTTACTTCATTCCTTCAGATGGCTTTGCCAATTATACTGTCACCTCAAGTACTAAGTTTTCAATTTGCTGATGGTGGACAACTGAAGTTTGAACATTATTTTAAAAACATACATACCTCATACAGTGCTTGCTTCTCCCTGCTTGTGCTTTTACTTTGAATCTAGAGTGTTTCTTCTATTTCTCTGAGTATTTTAAAATGTTTTCATCCTTCAAGATCTAGCTCACTGTCAGCTTTCATCCTATTTTTCCAGTTATTCCAGTTTTCCTTGCTTTGAATTTAAATAGAGAAAGGACTTAAAATTTAAGCACTTACTTCCTACTAGGTATTGTTAACTTATTTATGTATTTTATCGCTTTTAGTCTTCACTATGGCCCATAAAATATTATTATTTAAAAAATGATACACTAGGTTCGGAAAAATAACTTGCCAAAGTCACAAGCTATTTAAAGATAGAGTCAGGATTCAAAACAGTTTATAGCCTGTACAGGATTTCTCAGATGTTAATGAGCATGCAGATCACCTGGGAATCTTGTTAAAATGCATATTATGATTCAGTGGGAGTGGGGCCCAAGAGTCTGCATTTCTCACGAGCTCCCAGGGGATGCTGATATTGCTCTTCCTTGGCCCAGACTTTGAATAGCAAGAGCCTATTATATATAATTGATTATTGATTATATACGGTCGTATATTATTTTCTAATTATTTCTTACCTATGTACTTCTATAAATAGAGCTTAATCTTCTTTACCGCAGAGATTCTTTGGTAATACCTGAATATTTTAATACTTTGGTTAAATGGTGAGAGGCTAAAGTAGGGCAAGATGGGGTTATGTGCTAAGTAAATACTTGTTTAATGGGTACATATATGCCCTCAGAAATTTTACCATATAGAAAAGCGGTGTATTATACAGTATCAGGAAGCATAATCATCTACTGAATTTAATAGTTCCTAAAAGGAATCTTTATGTTAATCTTAATAATTTAGAGAGAGGTATATGACTAAGACTAGGTAGGATTGGTCACACAGCCAGTGGCAGAGACAGGGCTCAGACCTGGGACTGTCTGACACTAAAGTTTCTGCAATGTAGAAGTTTCAAATTAGTCACCCATGAGGCACCTCTCACACACAGACATGTTTTCCTTACTCCATACAGTGTTTTAAATAAATTGAAGCCAAAGAATAAAAATTGGGAAAATTTTCTGTTTCCTCCTATAAAATCTGGAAGTCTACATTGGTTCCACATTTCTGCAAGGCACCAAACTGCTAGAACTGTGTAGTGACTGTCCCTGTAGAGAAGTGTCACAGACTGCCCCAACCAGTCTCTGTCATTTGTCACCCCCCAAAGCCCTTTGAGGCATTTGTGTTGGGACTGCTGTTCTATAAAAAATGAGTCTCATCACAGTTCTAATTCTTATGTTTATTTCATTTTTTTTTACAGAGTCTTTTATCAAGTCTTGTGAAACTGAATAGTTTGACCTTAGCTAGAAATTGCTTCCAGTTGTATCCAGTGGGTGGTCCATCTCAGTTTTCTACCATCTATTCCCTCAACATGGAACACAATCGAATCAACAAAATTCCATTTGGAATTTTCTCCAGAGCAAAAGTATTAAGTAAGCTGAATATGAAGGTAAGCATATATTTGTTTACTAGGGAAAGGAATTGCTTTAATTGGTACTTCCACTAATATTTATGTTTTCTCTAATTGTGTGGGGAGTGGGTACTTGTACCTTGCTGATGGGTCTAAACTGATCATAAGACATGTCAGGGTACTTTGTATCAGATAACAAATATCTTAGAACTGAGCATACCCTTAGGATTTTGTCCTAAAGAAATCATTGTCCAGCTCAGTGGCTGATGCACCTGTAATCCCAGTGCTTTGGAAGGCTAAGGTGGGAGGATCCCTGGAGGCTAGGAGTTCAGGACCAGCTTGGGCAATATAGTGAGACCTTGTCTCGCAAAAATTTTTTAAAAATTAGCTGGCCTGTGGTACCAGCTACATGGAAGGCTAGGGCAGGAGGATGGCTTGAGCCTGGGAGTTCAAGGCTGCAGTGAGTTATGATGGCACCACTGCACTCCAGCCTAGGCAAGAGAGCAAGACCCTGTTCCCCATCCCCCCAAAAAAGGAAATATGAATGTCTATAAAAGTATAGTTGTAGGGATATGTATTGCAGAGCTATCTATTTCATAGGTACCAACTTATTAATAGAGATTTAATTTTGTTAAGTAGTTTATCTTTAGTGGAATACTGTGGAGCCATTAAAAATCATATTTTGGTCTAAAAGAACACTACGTACTAGTTGAAATATTCTCATTTTATCAAGTGGAAGAAAGTTAAAGCATGTAAAAAATCTCTTCCCACCCAGAATTTTTGAAAGCTGTTTTTAATATGCTTAATTGTATATTAAATATCTTTATATTTATACGTATAGCTGGTTTTTGCCAAAATGTTTAGAGATCAGAATTATTTATGGGTGAACGTTAGTTTCCTTTTGCTTACCCACTCTACAGTGATCGAGTTTCACCTTTGTAATGAAATTCATTGCAAAAGGAGAAAACAAATGGAAAATTATCAAGTTCAGTGATTTAATTTGTACTGGACAAACTTTAGGCCCAAGGAAGGTAACTGAATTGGCCACATAGCTGATAGTATTCTTCCTGTCATGATGAACCATTTGAACATAGTTGTGGTTCTTTAAACTATAATCTTAAATGTACAATTTTTAAATTTCATCCACACTTGCTCATAAATATGGTGTGTATCTTTTATGATGATTCTTTGGAAGTATATGATAAGTAAACTAATGGAAATTCAAGATACTCATACAGTTTTAACAATTGTAAAATTTCTTGTTAATCAGTCTGGTTATATGAGATTTAACAGTGGTAATGGTGTTGATTCTGAACATTCATTTTGTAGTAATAGGCTTAAAACACAATGGTTCAGGTGTTCATTAGTTTATGCATTTGCATGTAAGTAACAGTAGTAAATTTTTAAAAATGAAAATACTTTATAAATCATACTATAAGTGTCAGTAGTTTAGGCATAGATAGGTACTAAGCTTAAATATTACATAGATAACAAGTTTAAATATTACAATAAAAGAAAAAGTGGGTTTTCAAATGGATGCTTGCTACTTGGGATTTCTTTTATGGGTCATTTTGTGTGAAATGAGACAATCCATGTGCAATGCAGCAAATTTTTTTTTGTTGTTGTTGTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG
benign
168,259
Variant in SHOC2 (SHOC2 leucine rich repeat scaffold protein), chromosome 10, position 111004593—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
benign
TACATGTATTGTCTCATTTAATCTTTATCATAAACCTACTAGTTATTGGAGTATCCTCATCAAACAGATAGCGAAATAAGGCTTAAGAGAGGTTATATTTTTGGCCAAATTTGTTACTTTAAATATTTTTCTGGAAGTATGGTAAGAGGTATATTGATTATCTAATTAATCCACCAAAGTTGACAAAACTTAGTAGAAGGTGTAAAATAGAAGCCTAGATGTGTCTCATTCTAACAAAAAAAAAAAAATGATAAGCAACCCCTGCTTCACAATGTGACTAAGAAATGAGAGCTTGAAGAGCTGGCTTCTTGTTGCCCCTTCTCAAATATACTCAGTATTAACATTTTATCATAAGAGTCAATTCAATAAAGTAAGTCAGTTGTAAGAATAAAAAGAATCACATTTTTTGCCATGAGGCTCAGTAAAACTCCTTTATTTTCAATCGTGTAGCCTGTAGAGATTTTTCCTGAATTGACTGCCATGCAGTTTTCTTGCCACTGTTTTACCTCTGTTGTTCCTTTTGTTTCTGTACAACAATACACAAATTTTAAGGGTAGCTTCTTAAGGTACAGTATAAAGAACAAGTTTCAGTTCTCTGTATAGTTATATCCTCAATTATATAGTTACTTCATTCCTTCAGATGGCTTTGCCAATTATACTGTCACCTCAAGTACTAAGTTTTCAATTTGCTGATGGTGGACAACTGAAGTTTGAACATTATTTTAAAAACATACATACCTCATACAGTGCTTGCTTCTCCCTGCTTGTGCTTTTACTTTGAATCTAGAGTGTTTCTTCTATTTCTCTGAGTATTTTAAAATGTTTTCATCCTTCAAGATCTAGCTCACTGTCAGCTTTCATCCTATTTTTCCAGTTATTCCAGTTTTCCTTGCTTTGAATTTAAATAGAGAAAGGACTTAAAATTTAAGCACTTACTTCCTACTAGGTATTGTTAACTTATTTATGTATTTTATCGCTTTTAGTCTTCACTATGGCCCATAAAATATTATTATTTAAAAAATGATACACTAGGTTCGGAAAAATAACTTGCCAAAGTCACAAGCTATTTAAAGATAGAGTCAGGATTCAAAACAGTTTATAGCCTGTACAGGATTTCTCAGATGTTAATGAGCATGCAGATCACCTGGGAATCTTGTTAAAATGCATATTATGATTCAGTGGGAGTGGGGCCCAAGAGTCTGCATTTCTCACGAGCTCCCAGGGGATGCTGATATTGCTCTTCCTTGGCCCAGACTTTGAATAGCAAGAGCCTATTATATATAATTGATTATTGATTATATACGGTCGTATATTATTTTCTAATTATTTCTTACCTATGTACTTCTATAAATAGAGCTTAATCTTCTTTACCGCAGAGATTCTTTGGTAATACCTGAATATTTTAATACTTTGGTTAAATGGTGAGAGGCTAAAGTAGGGCAAGATGGGGTTATGTGCTAAGTAAATACTTGTTTAATGGGTACATATATGCCCTCAGAAATTTTACCATATAGAAAAGCGGTGTATTATACAGTATCAGGAAGCATAATCATCTACTGAATTTAATAGTTCCTAAAAGGAATCTTTATGTTAATCTTAATAATTTAGAGAGAGGTATATGACTAAGACTAGGTAGGATTGGTCACACAGCCAGTGGCAGAGACAGGGCTCAGACCTGGGACTGTCTGACACTAAAGTTTCTGCAATGTAGAAGTTTCAAATTAGTCACCCATGAGGCACCTCTCACACACAGACATGTTTTCCTTACTCCATACAGTGTTTTAAATAAATTGAAGCCAAAGAATAAAAATTGGGAAAATTTTCTGTTTCCTCCTATAAAATCTGGAAGTCTACATTGGTTCCACATTTCTGCAAGGCACCAAACTGCTAGAACTGTGTAGTGACTGTCCCTGTAGAGAAGTGTCACAGACTGCCCCAACCAGTCTCTGTCATTTGTCACCCCCCAAAGCCCTTTGAGGCATTTGTGTTGGGACTGCTGTTCTATAAAAAATGAGTCTCATCACAGTTCTAATTCTTATGTTTATTTCATTTTTTTTACAGAGTCTTTTATCAAGTCTTGTGAAACTGAATAGTTTGACCTTAGCTAGAAATTGCTTCCAGTTGTATCCAGTGGGTGGTCCATCTCAGTTTTCTACCATCTATTCCCTCAACATGGAACACAATCGAATCAACAAAATTCCATTTGGAATTTTCTCCAGAGCAAAAGTATTAAGTAAGCTGAATATGAAGGTAAGCATATATTTGTTTACTAGGGAAAGGAATTGCTTTAATTGGTACTTCCACTAATATTTATGTTTTCTCTAATTGTGTGGGGAGTGGGTACTTGTACCTTGCTGATGGGTCTAAACTGATCATAAGACATGTCAGGGTACTTTGTATCAGATAACAAATATCTTAGAACTGAGCATACCCTTAGGATTTTGTCCTAAAGAAATCATTGTCCAGCTCAGTGGCTGATGCACCTGTAATCCCAGTGCTTTGGAAGGCTAAGGTGGGAGGATCCCTGGAGGCTAGGAGTTCAGGACCAGCTTGGGCAATATAGTGAGACCTTGTCTCGCAAAAATTTTTTAAAAATTAGCTGGCCTGTGGTACCAGCTACATGGAAGGCTAGGGCAGGAGGATGGCTTGAGCCTGGGAGTTCAAGGCTGCAGTGAGTTATGATGGCACCACTGCACTCCAGCCTAGGCAAGAGAGCAAGACCCTGTTCCCCATCCCCCCAAAAAAGGAAATATGAATGTCTATAAAAGTATAGTTGTAGGGATATGTATTGCAGAGCTATCTATTTCATAGGTACCAACTTATTAATAGAGATTTAATTTTGTTAAGTAGTTTATCTTTAGTGGAATACTGTGGAGCCATTAAAAATCATATTTTGGTCTAAAAGAACACTACGTACTAGTTGAAATATTCTCATTTTATCAAGTGGAAGAAAGTTAAAGCATGTAAAAAATCTCTTCCCACCCAGAATTTTTGAAAGCTGTTTTTAATATGCTTAATTGTATATTAAATATCTTTATATTTATACGTATAGCTGGTTTTTGCCAAAATGTTTAGAGATCAGAATTATTTATGGGTGAACGTTAGTTTCCTTTTGCTTACCCACTCTACAGTGATCGAGTTTCACCTTTGTAATGAAATTCATTGCAAAAGGAGAAAACAAATGGAAAATTATCAAGTTCAGTGATTTAATTTGTACTGGACAAACTTTAGGCCCAAGGAAGGTAACTGAATTGGCCACATAGCTGATAGTATTCTTCCTGTCATGATGAACCATTTGAACATAGTTGTGGTTCTTTAAACTATAATCTTAAATGTACAATTTTTAAATTTCATCCACACTTGCTCATAAATATGGTGTGTATCTTTTATGATGATTCTTTGGAAGTATATGATAAGTAAACTAATGGAAATTCAAGATACTCATACAGTTTTAACAATTGTAAAATTTCTTGTTAATCAGTCTGGTTATATGAGATTTAACAGTGGTAATGGTGTTGATTCTGAACATTCATTTTGTAGTAATAGGCTTAAAACACAATGGTTCAGGTGTTCATTAGTTTATGCATTTGCATGTAAGTAACAGTAGTAAATTTTTAAAAATGAAAATACTTTATAAATCATACTATAAGTGTCAGTAGTTTAGGCATAGATAGGTACTAAGCTTAAATATTACATAGATAACAAGTTTAAATATTACAATAAAAGAAAAAGTGGGTTTTCAAATGGATGCTTGCTACTTGGGATTTCTTTTATGGGTCATTTTGTGTGAAATGAGACAATCCATGTGCAATGCAGCAAATTTTTTTTTGTTGTTGTTGTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG
TACATGTATTGTCTCATTTAATCTTTATCATAAACCTACTAGTTATTGGAGTATCCTCATCAAACAGATAGCGAAATAAGGCTTAAGAGAGGTTATATTTTTGGCCAAATTTGTTACTTTAAATATTTTTCTGGAAGTATGGTAAGAGGTATATTGATTATCTAATTAATCCACCAAAGTTGACAAAACTTAGTAGAAGGTGTAAAATAGAAGCCTAGATGTGTCTCATTCTAACAAAAAAAAAAAAATGATAAGCAACCCCTGCTTCACAATGTGACTAAGAAATGAGAGCTTGAAGAGCTGGCTTCTTGTTGCCCCTTCTCAAATATACTCAGTATTAACATTTTATCATAAGAGTCAATTCAATAAAGTAAGTCAGTTGTAAGAATAAAAAGAATCACATTTTTTGCCATGAGGCTCAGTAAAACTCCTTTATTTTCAATCGTGTAGCCTGTAGAGATTTTTCCTGAATTGACTGCCATGCAGTTTTCTTGCCACTGTTTTACCTCTGTTGTTCCTTTTGTTTCTGTACAACAATACACAAATTTTAAGGGTAGCTTCTTAAGGTACAGTATAAAGAACAAGTTTCAGTTCTCTGTATAGTTATATCCTCAATTATATAGTTACTTCATTCCTTCAGATGGCTTTGCCAATTATACTGTCACCTCAAGTACTAAGTTTTCAATTTGCTGATGGTGGACAACTGAAGTTTGAACATTATTTTAAAAACATACATACCTCATACAGTGCTTGCTTCTCCCTGCTTGTGCTTTTACTTTGAATCTAGAGTGTTTCTTCTATTTCTCTGAGTATTTTAAAATGTTTTCATCCTTCAAGATCTAGCTCACTGTCAGCTTTCATCCTATTTTTCCAGTTATTCCAGTTTTCCTTGCTTTGAATTTAAATAGAGAAAGGACTTAAAATTTAAGCACTTACTTCCTACTAGGTATTGTTAACTTATTTATGTATTTTATCGCTTTTAGTCTTCACTATGGCCCATAAAATATTATTATTTAAAAAATGATACACTAGGTTCGGAAAAATAACTTGCCAAAGTCACAAGCTATTTAAAGATAGAGTCAGGATTCAAAACAGTTTATAGCCTGTACAGGATTTCTCAGATGTTAATGAGCATGCAGATCACCTGGGAATCTTGTTAAAATGCATATTATGATTCAGTGGGAGTGGGGCCCAAGAGTCTGCATTTCTCACGAGCTCCCAGGGGATGCTGATATTGCTCTTCCTTGGCCCAGACTTTGAATAGCAAGAGCCTATTATATATAATTGATTATTGATTATATACGGTCGTATATTATTTTCTAATTATTTCTTACCTATGTACTTCTATAAATAGAGCTTAATCTTCTTTACCGCAGAGATTCTTTGGTAATACCTGAATATTTTAATACTTTGGTTAAATGGTGAGAGGCTAAAGTAGGGCAAGATGGGGTTATGTGCTAAGTAAATACTTGTTTAATGGGTACATATATGCCCTCAGAAATTTTACCATATAGAAAAGCGGTGTATTATACAGTATCAGGAAGCATAATCATCTACTGAATTTAATAGTTCCTAAAAGGAATCTTTATGTTAATCTTAATAATTTAGAGAGAGGTATATGACTAAGACTAGGTAGGATTGGTCACACAGCCAGTGGCAGAGACAGGGCTCAGACCTGGGACTGTCTGACACTAAAGTTTCTGCAATGTAGAAGTTTCAAATTAGTCACCCATGAGGCACCTCTCACACACAGACATGTTTTCCTTACTCCATACAGTGTTTTAAATAAATTGAAGCCAAAGAATAAAAATTGGGAAAATTTTCTGTTTCCTCCTATAAAATCTGGAAGTCTACATTGGTTCCACATTTCTGCAAGGCACCAAACTGCTAGAACTGTGTAGTGACTGTCCCTGTAGAGAAGTGTCACAGACTGCCCCAACCAGTCTCTGTCATTTGTCACCCCCCAAAGCCCTTTGAGGCATTTGTGTTGGGACTGCTGTTCTATAAAAAATGAGTCTCATCACAGTTCTAATTCTTATGTTTATTTCATTTTTTTACAGAGTCTTTTATCAAGTCTTGTGAAACTGAATAGTTTGACCTTAGCTAGAAATTGCTTCCAGTTGTATCCAGTGGGTGGTCCATCTCAGTTTTCTACCATCTATTCCCTCAACATGGAACACAATCGAATCAACAAAATTCCATTTGGAATTTTCTCCAGAGCAAAAGTATTAAGTAAGCTGAATATGAAGGTAAGCATATATTTGTTTACTAGGGAAAGGAATTGCTTTAATTGGTACTTCCACTAATATTTATGTTTTCTCTAATTGTGTGGGGAGTGGGTACTTGTACCTTGCTGATGGGTCTAAACTGATCATAAGACATGTCAGGGTACTTTGTATCAGATAACAAATATCTTAGAACTGAGCATACCCTTAGGATTTTGTCCTAAAGAAATCATTGTCCAGCTCAGTGGCTGATGCACCTGTAATCCCAGTGCTTTGGAAGGCTAAGGTGGGAGGATCCCTGGAGGCTAGGAGTTCAGGACCAGCTTGGGCAATATAGTGAGACCTTGTCTCGCAAAAATTTTTTAAAAATTAGCTGGCCTGTGGTACCAGCTACATGGAAGGCTAGGGCAGGAGGATGGCTTGAGCCTGGGAGTTCAAGGCTGCAGTGAGTTATGATGGCACCACTGCACTCCAGCCTAGGCAAGAGAGCAAGACCCTGTTCCCCATCCCCCCAAAAAAGGAAATATGAATGTCTATAAAAGTATAGTTGTAGGGATATGTATTGCAGAGCTATCTATTTCATAGGTACCAACTTATTAATAGAGATTTAATTTTGTTAAGTAGTTTATCTTTAGTGGAATACTGTGGAGCCATTAAAAATCATATTTTGGTCTAAAAGAACACTACGTACTAGTTGAAATATTCTCATTTTATCAAGTGGAAGAAAGTTAAAGCATGTAAAAAATCTCTTCCCACCCAGAATTTTTGAAAGCTGTTTTTAATATGCTTAATTGTATATTAAATATCTTTATATTTATACGTATAGCTGGTTTTTGCCAAAATGTTTAGAGATCAGAATTATTTATGGGTGAACGTTAGTTTCCTTTTGCTTACCCACTCTACAGTGATCGAGTTTCACCTTTGTAATGAAATTCATTGCAAAAGGAGAAAACAAATGGAAAATTATCAAGTTCAGTGATTTAATTTGTACTGGACAAACTTTAGGCCCAAGGAAGGTAACTGAATTGGCCACATAGCTGATAGTATTCTTCCTGTCATGATGAACCATTTGAACATAGTTGTGGTTCTTTAAACTATAATCTTAAATGTACAATTTTTAAATTTCATCCACACTTGCTCATAAATATGGTGTGTATCTTTTATGATGATTCTTTGGAAGTATATGATAAGTAAACTAATGGAAATTCAAGATACTCATACAGTTTTAACAATTGTAAAATTTCTTGTTAATCAGTCTGGTTATATGAGATTTAACAGTGGTAATGGTGTTGATTCTGAACATTCATTTTGTAGTAATAGGCTTAAAACACAATGGTTCAGGTGTTCATTAGTTTATGCATTTGCATGTAAGTAACAGTAGTAAATTTTTAAAAATGAAAATACTTTATAAATCATACTATAAGTGTCAGTAGTTTAGGCATAGATAGGTACTAAGCTTAAATATTACATAGATAACAAGTTTAAATATTACAATAAAAGAAAAAGTGGGTTTTCAAATGGATGCTTGCTACTTGGGATTTCTTTTATGGGTCATTTTGTGTGAAATGAGACAATCCATGTGCAATGCAGCAAATTTTTTTTTGTTGTTGTTGTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGN
benign
168,260
Is the genetic mutation found on chromosome 10 at position 111011593, within the gene SHOC2 (SHOC2 leucine rich repeat scaffold protein), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
CTAACAAATGGTATTTTGTGAAAGAAAAATATGTAATGTAAGTGATTCTCATTCTATCCAATCTGGTTTCCCTGTTAATTTATTTTATTGTTTAGACATATTATTTTCAGTTTACATTAAATGTAGGAAATATATTTGTAACTCTCTTTTATTTTGTAAATCTTTTAGAAATTAGTCTTGACAAACAACCAGTTGACCACTCTTCCCAGAGGCATTGGTCACCTTACTAATCTCACACATCTGGGCCTTGGAGAGAACCTACTTACTCACCTTCCTGAAGAAATTGGTATGAACCCTGTGAATGCTTGACTCTGTACTAATAATTTGCTCTTGTGCATTCAAGCAATATTTCAGATAAATATGACAAATCTATTGTTTTTTAAACTGAGGTTATATCAGGCTTAAGATTTTTTTTTTTAATAGAGCACCGATGGTTGATTGTTGATTGGTTTTGGTTAGGTTTCCTAAAGGCTGTTAGGATTGGTTTTAAAATTAGTACTGTATTTGAGAATGTTTTGGAATACTTACATTTCCAATAGGTTTTATGTATAACCTCATTTTAGAAGTTATTTTATATTCCTTCTAAATTTAAAATTACACAGGCTTGAATTAGTAATGTTTTATGCCAAAAGAACATTTATGAGATTTTAGAATTAATATTAATATTTAACCAATATTAACATTTGGGAATACTTAACATTTTCCAGGTGTTTTCATTTCCATTATTTTATGTAATATACATGACCACCTGGAATTTTAGACAGTGCAAGTTGTAATCTTGCTTTATAAAGAGAATTACTTGATTAAGGTAATTAAATGTTAGCTTTTAAATTAGTAATTCTATGCATTAATGTTTTCCCATCTATAGTGCACTGTCCCACAGGAACTATAGGTTAGTAAACACCGCATGTTCTCCTCATAGGTGGGAATTGAACAATGAGAACACTTGGATACAGGGTGGGGAACATCACACACCGGGGCCTGTCGTGGGGTAGCGGGAGGGGGGAAGGATAGCATTAGGAGATATACCTAATGTAAATGACTAGTTAACGGGTGCAGCACACCACCATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGTACATGTACCCTAGAACTTAAAGTATAATAAAAAAAAATGGTTTTGGAGATAATTGACAATTCAAAATCTAGCCCTGCTGCTTATTGGCTTTGTGACTTTAGGTAAGGTATGTAAACTCCCTAAGCCTCAAGTTTCTTACCTGTAAAATAAAGATGATAATAGGAAGTTCTCACAAGGTTGTTCTGAAGCTTAAATAATATCTTACATGTAAACAAATTGATTACATACTAGCTATTATTTCTGTTATTTTCTAATAAATGCCACTGTGAAATATTCTGAATTTTGAAATTTAAAAATTGGAAACACATGAGGCAAATTTACACCTATATTTCTAGTATATTTATTCACCTGATCTCATTTAATTGCTTGAGACATTTTCCTAGAGAATACAAGTATCCTAAGAAAAAATTTTTAAAGGTCTACATAAGTCAGTTTTTGGCTTACTGCCATATATGTGATAACTCTTAGTGAAAGGTTCATATTAAGTAACAAATATTTTGCACATAAGAAATTTATTAATTTGAGAAAATGTTACATCTACAACAGAAAAGTGGTTATAGACATTGAATATATAATAAGCTCACCTTTGGAGTTTTAAAATATATATAAGTAAATGTTATATATGTGCCAAACTATCCCAAACAGAATCTCTGGAGATGGGGCATATGTATTTTCAAAAACCTCTCCAAGCTTGAAGACCTACCATAAAGGAGGAGGTTCTAATTTAGTTTGTATGAAGTGTGACCTGGACATATAGGAGTTTAAAAAGTCTTCCAAGTTGATTTGAATATGCAGCAAAATTTGAGATCCATGGTTGTAGAGTTTTAAAGCTAAGAAAGGAGAATAAAAGGAAATGTGTGTTCAGTATATGTAATGACCAGAACAGCATCATGCCCAGTTGAACTTTTAAAATAGCAACTAATTTTTAAAAAAAAATTGATTTTTTTTTTAAACAGGTACACTGGAGAACCTAGAAGAACTGTATTTGAATGACAACCCCAACCTGCATAGCCTTCCCTTTGAGCTGGCACTCTGCAGCAAGCTTTCAATCATGAGTATTGAGAACTGTCCACTCAGTCACCTTCCACCTCAGATTGTTGCTGGGGGGCCTTCTTTCATCATTCAGTTCTTAAAGATGCAGGGTCCATATCGTGCCATGGTCTGATATAAATCTGCTGGTCCCACACACTGTTCAAAAATAGACTGCCATTAATGTTTCTTATCTATATCTGTATCTATTTATGTAGATATTGGTATATGGCAGATTTATAAAAATTGCATTATGTGTTTCTGCTAATAGAGGAATCATAGCCATTTAGAATTTTTTTTAAATTCTGTACAAAAGGCTTATATAAGTTTTCTTTGCTGAATTTGATGGATGTTTTTCTGTTGTGTAATCTGATATGCCAGTTTGCTTAAAACATTTGCCAACACATTATGAAGTTATTAAATTTAAGGGACAGAGGTAGTATAGTTAGATATACTTTCTCTTAGGAAAAATAATGGGCAAAAATTTTTGTTGCAACTTTTCATATATATTTTCCCCTTACCAATTGTTTTATCCTTATAGTATTGTAGGCCCTGAAAGTAGAATTTTTCTTTAACTTATTTTGAGATTTGAGATTTAAATTTTATGTATTGTTTACAGTCAGAGTAAATCACTGGATTTCTTTTGTTTGTTTTGATTTGCTCTGTTTTATTCAGTCAAATCTAGAGTTTGAATCCTCTGCTAAAGAATTTGCATCCACTGGTGTAAACAGTGAAAGGTATTTGCTTGTTGAAAAAAAAAACTGGCAAAGTGAAAAGATACAGTCAAAAATCTAGAATTTCTTTAATTTTGCTTCTCTGACGAGTTGTGAAGCAAAATACCTGAAGTGAGTCTTTGGGTAGGGGAAGGGTATTGAGACCTTTTCTAGTATGAATATTTTTTAAGTTTGGGGGAAGAGAAACTTGCAGTGAAAAGGAGTTTTTTCATTCCTGAAAGTTGCAGATCCACAAAACTAACAGGATAATTGGGCAAATAAATTACATATAAACACACACAATCTATATATGTATATACAATGCTATATAGATATGTATTTATTATATCATAAACTACAGTAGGTAACTTTAAGGATTTCTTCCTATCCTTGTACAATGACATGAATGTCTTTCTTTGAAAACTGCAATGTATGTATGTTTCAAGGTTATTTAACAGTGTACTATGGTTTTATATCTTGACTTGCCTTGTACATCTTTCAATTCTGGAATATCTGTGTCTAAGCACAATATCTTCACACTGTGCTGTATTGCTGCTGAACTAAATGCACTTTTCCCCACATATGGGGCACTGGCTTCAAACAATTCAGTTCAGTATCATTACTTTTAATCTCATCTTTCCTTTCTTGGTAGTTGTTAATACAGTTATGGAAAAGAGGCACATTGCATAGAAGCCATTGGGGAGTTCAGTGGAAGTTCTGTAAGATGTGCATGTACTATTTGATGCGTTTTCTTTGCTTCACTGCTTTTAATACTTAGCAGTATTGTTGGTCTAAGTCAATTTGATTATTGAGGAGTCTCAGAGCAAGGTGCGTTCTAGATGTCATCCTAAAAAACACTTCATATATAATTAATCACTATTTTGTATAATTACATATTGCTGCTTGTGTGTTTTTTTTTTTTTCCATTTAGTTGGGCGTTGTGTTTTACACAAAACCATTTTTGAATTAAGGCTATGATATTAAGATAGAAATTTGGACTGTTGTTCTGCTTTTCCTGGCACTCAAATTCATGACTAGTTTTGAGGTCAAACCTATGTTCGTAATGAGAGATTTTATAAGGATCAACTAAGAAATGGAAGGCAGGTGAAGATATAAAACCCTAGAATGCTTAAATGTGCTGTAAAACTATTGTAGATGTCACTGGATTTTACCAAGTAATATCCTTTCTTTTTTTTTTCCCCCCATCTGCTGTGGCTTTTCAGTTAAAATTTTGTTTATAAAAGG
CTAACAAATGGTATTTTGTGAAAGAAAAATATGTAATGTAAGTGATTCTCATTCTATCCAATCTGGTTTCCCTGTTAATTTATTTTATTGTTTAGACATATTATTTTCAGTTTACATTAAATGTAGGAAATATATTTGTAACTCTCTTTTATTTTGTAAATCTTTTAGAAATTAGTCTTGACAAACAACCAGTTGACCACTCTTCCCAGAGGCATTGGTCACCTTACTAATCTCACACATCTGGGCCTTGGAGAGAACCTACTTACTCACCTTCCTGAAGAAATTGGTATGAACCCTGTGAATGCTTGACTCTGTACTAATAATTTGCTCTTGTGCATTCAAGCAATATTTCAGATAAATATGACAAATCTATTGTTTTTTAAACTGAGGTTATATCAGGCTTAAGATTTTTTTTTTTAATAGAGCACCGATGGTTGATTGTTGATTGGTTTTGGTTAGGTTTCCTAAAGGCTGTTAGGATTGGTTTTAAAATTAGTACTGTATTTGAGAATGTTTTGGAATACTTACATTTCCAATAGGTTTTATGTATAACCTCATTTTAGAAGTTATTTTATATTCCTTCTAAATTTAAAATTACACAGGCTTGAATTAGTAATGTTTTATGCCAAAAGAACATTTATGAGATTTTAGAATTAATATTAATATTTAACCAATATTAACATTTGGGAATACTTAACATTTTCCAGGTGTTTTCATTTCCATTATTTTATGTAATATACATGACCACCTGGAATTTTAGACAGTGCAAGTTGTAATCTTGCTTTATAAAGAGAATTACTTGATTAAGGTAATTAAATGTTAGCTTTTAAATTAGTAATTCTATGCATTAATGTTTTCCCATCTATAGTGCACTGTCCCACAGGAACTATAGGTTAGTAAACACCGCATGTTCTCCTCATAGGTGGGAATTGAACAATGAGAACACTTGGATACAGGGTGGGGAACATCACACACCGGGGCCTGTCGTGGGGTAGCGGGAGGGGGGAAGGATAGCATTAGGAGATATACCTAATGTAAATGACTAGTTAACGGGTGCAGCACACCACCATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGTACATGTACCCTAGAACTTAAAGTATAATAAAAAAAAATGGTTTTGGAGATAATTGACAATTCAAAATCTAGCCCTGCTGCTTATTGGCTTTGTGACTTTAGGTAAGGTATGTAAACTCCCTAAGCCTCAAGTTTCTTACCTGTAAAATAAAGATGATAATAGGAAGTTCTCACAAGGTTGTTCTGAAGCTTAAATAATATCTTACATGTAAACAAATTGATTACATACTAGCTATTATTTCTGTTATTTTCTAATAAATGCCACTGTGAAATATTCTGAATTTTGAAATTTAAAAATTGGAAACACATGAGGCAAATTTACACCTATATTTCTAGTATATTTATTCACCTGATCTCATTTAATTGCTTGAGACATTTTCCTAGAGAATACAAGTATCCTAAGAAAAAATTTTTAAAGGTCTACATAAGTCAGTTTTTGGCTTACTGCCATATATGTGATAACTCTTAGTGAAAGGTTCATATTAAGTAACAAATATTTTGCACATAAGAAATTTATTAATTTGAGAAAATGTTACATCTACAACAGAAAAGTGGTTATAGACATTGAATATATAATAAGCTCACCTTTGGAGTTTTAAAATATATATAAGTAAATGTTATATATGTGCCAAACTATCCCAAACAGAATCTCTGGAGATGGGGCATATGTATTTTCAAAAACCTCTCCAAGCTTGAAGACCTACCATAAAGGAGGAGGTTCTAATTTAGTTTGTATGAAGTGTGACCTGGACATATAGGAGTTTAAAAAGTCTTCCAAGTTGATTTGAATATGCAGCAAAATTTGAGATCCATGGTTGTAGAGTTTTAAAGCTAAGAAAGGAGAATAAAAGGAAATGTGTGTTCAGTATATGTAATGACCAGAACAGCATCATGCCCAGTTGAACTTTTAAAATAGCAACTAATTTTTAAAAAAAAATTGATTTTTTTTTTTAAACAGGTACACTGGAGAACCTAGAAGAACTGTATTTGAATGACAACCCCAACCTGCATAGCCTTCCCTTTGAGCTGGCACTCTGCAGCAAGCTTTCAATCATGAGTATTGAGAACTGTCCACTCAGTCACCTTCCACCTCAGATTGTTGCTGGGGGGCCTTCTTTCATCATTCAGTTCTTAAAGATGCAGGGTCCATATCGTGCCATGGTCTGATATAAATCTGCTGGTCCCACACACTGTTCAAAAATAGACTGCCATTAATGTTTCTTATCTATATCTGTATCTATTTATGTAGATATTGGTATATGGCAGATTTATAAAAATTGCATTATGTGTTTCTGCTAATAGAGGAATCATAGCCATTTAGAATTTTTTTTAAATTCTGTACAAAAGGCTTATATAAGTTTTCTTTGCTGAATTTGATGGATGTTTTTCTGTTGTGTAATCTGATATGCCAGTTTGCTTAAAACATTTGCCAACACATTATGAAGTTATTAAATTTAAGGGACAGAGGTAGTATAGTTAGATATACTTTCTCTTAGGAAAAATAATGGGCAAAAATTTTTGTTGCAACTTTTCATATATATTTTCCCCTTACCAATTGTTTTATCCTTATAGTATTGTAGGCCCTGAAAGTAGAATTTTTCTTTAACTTATTTTGAGATTTGAGATTTAAATTTTATGTATTGTTTACAGTCAGAGTAAATCACTGGATTTCTTTTGTTTGTTTTGATTTGCTCTGTTTTATTCAGTCAAATCTAGAGTTTGAATCCTCTGCTAAAGAATTTGCATCCACTGGTGTAAACAGTGAAAGGTATTTGCTTGTTGAAAAAAAAAACTGGCAAAGTGAAAAGATACAGTCAAAAATCTAGAATTTCTTTAATTTTGCTTCTCTGACGAGTTGTGAAGCAAAATACCTGAAGTGAGTCTTTGGGTAGGGGAAGGGTATTGAGACCTTTTCTAGTATGAATATTTTTTAAGTTTGGGGGAAGAGAAACTTGCAGTGAAAAGGAGTTTTTTCATTCCTGAAAGTTGCAGATCCACAAAACTAACAGGATAATTGGGCAAATAAATTACATATAAACACACACAATCTATATATGTATATACAATGCTATATAGATATGTATTTATTATATCATAAACTACAGTAGGTAACTTTAAGGATTTCTTCCTATCCTTGTACAATGACATGAATGTCTTTCTTTGAAAACTGCAATGTATGTATGTTTCAAGGTTATTTAACAGTGTACTATGGTTTTATATCTTGACTTGCCTTGTACATCTTTCAATTCTGGAATATCTGTGTCTAAGCACAATATCTTCACACTGTGCTGTATTGCTGCTGAACTAAATGCACTTTTCCCCACATATGGGGCACTGGCTTCAAACAATTCAGTTCAGTATCATTACTTTTAATCTCATCTTTCCTTTCTTGGTAGTTGTTAATACAGTTATGGAAAAGAGGCACATTGCATAGAAGCCATTGGGGAGTTCAGTGGAAGTTCTGTAAGATGTGCATGTACTATTTGATGCGTTTTCTTTGCTTCACTGCTTTTAATACTTAGCAGTATTGTTGGTCTAAGTCAATTTGATTATTGAGGAGTCTCAGAGCAAGGTGCGTTCTAGATGTCATCCTAAAAAACACTTCATATATAATTAATCACTATTTTGTATAATTACATATTGCTGCTTGTGTGTTTTTTTTTTTTTCCATTTAGTTGGGCGTTGTGTTTTACACAAAACCATTTTTGAATTAAGGCTATGATATTAAGATAGAAATTTGGACTGTTGTTCTGCTTTTCCTGGCACTCAAATTCATGACTAGTTTTGAGGTCAAACCTATGTTCGTAATGAGAGATTTTATAAGGATCAACTAAGAAATGGAAGGCAGGTGAAGATATAAAACCCTAGAATGCTTAAATGTGCTGTAAAACTATTGTAGATGTCACTGGATTTTACCAAGTAATATCCTTTCTTTTTTTTTTCCCCCCATCTGCTGTGGCTTTTCAGTTAAAATTTTGTTTATAAAAG
benign
168,280
Gene SHOC2 (SHOC2 leucine rich repeat scaffold protein) variant at chromosome 10, position 111011593—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
benign
CTAACAAATGGTATTTTGTGAAAGAAAAATATGTAATGTAAGTGATTCTCATTCTATCCAATCTGGTTTCCCTGTTAATTTATTTTATTGTTTAGACATATTATTTTCAGTTTACATTAAATGTAGGAAATATATTTGTAACTCTCTTTTATTTTGTAAATCTTTTAGAAATTAGTCTTGACAAACAACCAGTTGACCACTCTTCCCAGAGGCATTGGTCACCTTACTAATCTCACACATCTGGGCCTTGGAGAGAACCTACTTACTCACCTTCCTGAAGAAATTGGTATGAACCCTGTGAATGCTTGACTCTGTACTAATAATTTGCTCTTGTGCATTCAAGCAATATTTCAGATAAATATGACAAATCTATTGTTTTTTAAACTGAGGTTATATCAGGCTTAAGATTTTTTTTTTTAATAGAGCACCGATGGTTGATTGTTGATTGGTTTTGGTTAGGTTTCCTAAAGGCTGTTAGGATTGGTTTTAAAATTAGTACTGTATTTGAGAATGTTTTGGAATACTTACATTTCCAATAGGTTTTATGTATAACCTCATTTTAGAAGTTATTTTATATTCCTTCTAAATTTAAAATTACACAGGCTTGAATTAGTAATGTTTTATGCCAAAAGAACATTTATGAGATTTTAGAATTAATATTAATATTTAACCAATATTAACATTTGGGAATACTTAACATTTTCCAGGTGTTTTCATTTCCATTATTTTATGTAATATACATGACCACCTGGAATTTTAGACAGTGCAAGTTGTAATCTTGCTTTATAAAGAGAATTACTTGATTAAGGTAATTAAATGTTAGCTTTTAAATTAGTAATTCTATGCATTAATGTTTTCCCATCTATAGTGCACTGTCCCACAGGAACTATAGGTTAGTAAACACCGCATGTTCTCCTCATAGGTGGGAATTGAACAATGAGAACACTTGGATACAGGGTGGGGAACATCACACACCGGGGCCTGTCGTGGGGTAGCGGGAGGGGGGAAGGATAGCATTAGGAGATATACCTAATGTAAATGACTAGTTAACGGGTGCAGCACACCACCATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGTACATGTACCCTAGAACTTAAAGTATAATAAAAAAAAATGGTTTTGGAGATAATTGACAATTCAAAATCTAGCCCTGCTGCTTATTGGCTTTGTGACTTTAGGTAAGGTATGTAAACTCCCTAAGCCTCAAGTTTCTTACCTGTAAAATAAAGATGATAATAGGAAGTTCTCACAAGGTTGTTCTGAAGCTTAAATAATATCTTACATGTAAACAAATTGATTACATACTAGCTATTATTTCTGTTATTTTCTAATAAATGCCACTGTGAAATATTCTGAATTTTGAAATTTAAAAATTGGAAACACATGAGGCAAATTTACACCTATATTTCTAGTATATTTATTCACCTGATCTCATTTAATTGCTTGAGACATTTTCCTAGAGAATACAAGTATCCTAAGAAAAAATTTTTAAAGGTCTACATAAGTCAGTTTTTGGCTTACTGCCATATATGTGATAACTCTTAGTGAAAGGTTCATATTAAGTAACAAATATTTTGCACATAAGAAATTTATTAATTTGAGAAAATGTTACATCTACAACAGAAAAGTGGTTATAGACATTGAATATATAATAAGCTCACCTTTGGAGTTTTAAAATATATATAAGTAAATGTTATATATGTGCCAAACTATCCCAAACAGAATCTCTGGAGATGGGGCATATGTATTTTCAAAAACCTCTCCAAGCTTGAAGACCTACCATAAAGGAGGAGGTTCTAATTTAGTTTGTATGAAGTGTGACCTGGACATATAGGAGTTTAAAAAGTCTTCCAAGTTGATTTGAATATGCAGCAAAATTTGAGATCCATGGTTGTAGAGTTTTAAAGCTAAGAAAGGAGAATAAAAGGAAATGTGTGTTCAGTATATGTAATGACCAGAACAGCATCATGCCCAGTTGAACTTTTAAAATAGCAACTAATTTTTAAAAAAAAATTGATTTTTTTTTTAAACAGGTACACTGGAGAACCTAGAAGAACTGTATTTGAATGACAACCCCAACCTGCATAGCCTTCCCTTTGAGCTGGCACTCTGCAGCAAGCTTTCAATCATGAGTATTGAGAACTGTCCACTCAGTCACCTTCCACCTCAGATTGTTGCTGGGGGGCCTTCTTTCATCATTCAGTTCTTAAAGATGCAGGGTCCATATCGTGCCATGGTCTGATATAAATCTGCTGGTCCCACACACTGTTCAAAAATAGACTGCCATTAATGTTTCTTATCTATATCTGTATCTATTTATGTAGATATTGGTATATGGCAGATTTATAAAAATTGCATTATGTGTTTCTGCTAATAGAGGAATCATAGCCATTTAGAATTTTTTTTAAATTCTGTACAAAAGGCTTATATAAGTTTTCTTTGCTGAATTTGATGGATGTTTTTCTGTTGTGTAATCTGATATGCCAGTTTGCTTAAAACATTTGCCAACACATTATGAAGTTATTAAATTTAAGGGACAGAGGTAGTATAGTTAGATATACTTTCTCTTAGGAAAAATAATGGGCAAAAATTTTTGTTGCAACTTTTCATATATATTTTCCCCTTACCAATTGTTTTATCCTTATAGTATTGTAGGCCCTGAAAGTAGAATTTTTCTTTAACTTATTTTGAGATTTGAGATTTAAATTTTATGTATTGTTTACAGTCAGAGTAAATCACTGGATTTCTTTTGTTTGTTTTGATTTGCTCTGTTTTATTCAGTCAAATCTAGAGTTTGAATCCTCTGCTAAAGAATTTGCATCCACTGGTGTAAACAGTGAAAGGTATTTGCTTGTTGAAAAAAAAAACTGGCAAAGTGAAAAGATACAGTCAAAAATCTAGAATTTCTTTAATTTTGCTTCTCTGACGAGTTGTGAAGCAAAATACCTGAAGTGAGTCTTTGGGTAGGGGAAGGGTATTGAGACCTTTTCTAGTATGAATATTTTTTAAGTTTGGGGGAAGAGAAACTTGCAGTGAAAAGGAGTTTTTTCATTCCTGAAAGTTGCAGATCCACAAAACTAACAGGATAATTGGGCAAATAAATTACATATAAACACACACAATCTATATATGTATATACAATGCTATATAGATATGTATTTATTATATCATAAACTACAGTAGGTAACTTTAAGGATTTCTTCCTATCCTTGTACAATGACATGAATGTCTTTCTTTGAAAACTGCAATGTATGTATGTTTCAAGGTTATTTAACAGTGTACTATGGTTTTATATCTTGACTTGCCTTGTACATCTTTCAATTCTGGAATATCTGTGTCTAAGCACAATATCTTCACACTGTGCTGTATTGCTGCTGAACTAAATGCACTTTTCCCCACATATGGGGCACTGGCTTCAAACAATTCAGTTCAGTATCATTACTTTTAATCTCATCTTTCCTTTCTTGGTAGTTGTTAATACAGTTATGGAAAAGAGGCACATTGCATAGAAGCCATTGGGGAGTTCAGTGGAAGTTCTGTAAGATGTGCATGTACTATTTGATGCGTTTTCTTTGCTTCACTGCTTTTAATACTTAGCAGTATTGTTGGTCTAAGTCAATTTGATTATTGAGGAGTCTCAGAGCAAGGTGCGTTCTAGATGTCATCCTAAAAAACACTTCATATATAATTAATCACTATTTTGTATAATTACATATTGCTGCTTGTGTGTTTTTTTTTTTTTCCATTTAGTTGGGCGTTGTGTTTTACACAAAACCATTTTTGAATTAAGGCTATGATATTAAGATAGAAATTTGGACTGTTGTTCTGCTTTTCCTGGCACTCAAATTCATGACTAGTTTTGAGGTCAAACCTATGTTCGTAATGAGAGATTTTATAAGGATCAACTAAGAAATGGAAGGCAGGTGAAGATATAAAACCCTAGAATGCTTAAATGTGCTGTAAAACTATTGTAGATGTCACTGGATTTTACCAAGTAATATCCTTTCTTTTTTTTTTCCCCCCATCTGCTGTGGCTTTTCAGTTAAAATTTTGTTTATAAAAGG
CTAACAAATGGTATTTTGTGAAAGAAAAATATGTAATGTAAGTGATTCTCATTCTATCCAATCTGGTTTCCCTGTTAATTTATTTTATTGTTTAGACATATTATTTTCAGTTTACATTAAATGTAGGAAATATATTTGTAACTCTCTTTTATTTTGTAAATCTTTTAGAAATTAGTCTTGACAAACAACCAGTTGACCACTCTTCCCAGAGGCATTGGTCACCTTACTAATCTCACACATCTGGGCCTTGGAGAGAACCTACTTACTCACCTTCCTGAAGAAATTGGTATGAACCCTGTGAATGCTTGACTCTGTACTAATAATTTGCTCTTGTGCATTCAAGCAATATTTCAGATAAATATGACAAATCTATTGTTTTTTAAACTGAGGTTATATCAGGCTTAAGATTTTTTTTTTTAATAGAGCACCGATGGTTGATTGTTGATTGGTTTTGGTTAGGTTTCCTAAAGGCTGTTAGGATTGGTTTTAAAATTAGTACTGTATTTGAGAATGTTTTGGAATACTTACATTTCCAATAGGTTTTATGTATAACCTCATTTTAGAAGTTATTTTATATTCCTTCTAAATTTAAAATTACACAGGCTTGAATTAGTAATGTTTTATGCCAAAAGAACATTTATGAGATTTTAGAATTAATATTAATATTTAACCAATATTAACATTTGGGAATACTTAACATTTTCCAGGTGTTTTCATTTCCATTATTTTATGTAATATACATGACCACCTGGAATTTTAGACAGTGCAAGTTGTAATCTTGCTTTATAAAGAGAATTACTTGATTAAGGTAATTAAATGTTAGCTTTTAAATTAGTAATTCTATGCATTAATGTTTTCCCATCTATAGTGCACTGTCCCACAGGAACTATAGGTTAGTAAACACCGCATGTTCTCCTCATAGGTGGGAATTGAACAATGAGAACACTTGGATACAGGGTGGGGAACATCACACACCGGGGCCTGTCGTGGGGTAGCGGGAGGGGGGAAGGATAGCATTAGGAGATATACCTAATGTAAATGACTAGTTAACGGGTGCAGCACACCACCATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGTACATGTACCCTAGAACTTAAAGTATAATAAAAAAAAATGGTTTTGGAGATAATTGACAATTCAAAATCTAGCCCTGCTGCTTATTGGCTTTGTGACTTTAGGTAAGGTATGTAAACTCCCTAAGCCTCAAGTTTCTTACCTGTAAAATAAAGATGATAATAGGAAGTTCTCACAAGGTTGTTCTGAAGCTTAAATAATATCTTACATGTAAACAAATTGATTACATACTAGCTATTATTTCTGTTATTTTCTAATAAATGCCACTGTGAAATATTCTGAATTTTGAAATTTAAAAATTGGAAACACATGAGGCAAATTTACACCTATATTTCTAGTATATTTATTCACCTGATCTCATTTAATTGCTTGAGACATTTTCCTAGAGAATACAAGTATCCTAAGAAAAAATTTTTAAAGGTCTACATAAGTCAGTTTTTGGCTTACTGCCATATATGTGATAACTCTTAGTGAAAGGTTCATATTAAGTAACAAATATTTTGCACATAAGAAATTTATTAATTTGAGAAAATGTTACATCTACAACAGAAAAGTGGTTATAGACATTGAATATATAATAAGCTCACCTTTGGAGTTTTAAAATATATATAAGTAAATGTTATATATGTGCCAAACTATCCCAAACAGAATCTCTGGAGATGGGGCATATGTATTTTCAAAAACCTCTCCAAGCTTGAAGACCTACCATAAAGGAGGAGGTTCTAATTTAGTTTGTATGAAGTGTGACCTGGACATATAGGAGTTTAAAAAGTCTTCCAAGTTGATTTGAATATGCAGCAAAATTTGAGATCCATGGTTGTAGAGTTTTAAAGCTAAGAAAGGAGAATAAAAGGAAATGTGTGTTCAGTATATGTAATGACCAGAACAGCATCATGCCCAGTTGAACTTTTAAAATAGCAACTAATTTTTAAAAAAAAATTGATTTTTTTTTAAACAGGTACACTGGAGAACCTAGAAGAACTGTATTTGAATGACAACCCCAACCTGCATAGCCTTCCCTTTGAGCTGGCACTCTGCAGCAAGCTTTCAATCATGAGTATTGAGAACTGTCCACTCAGTCACCTTCCACCTCAGATTGTTGCTGGGGGGCCTTCTTTCATCATTCAGTTCTTAAAGATGCAGGGTCCATATCGTGCCATGGTCTGATATAAATCTGCTGGTCCCACACACTGTTCAAAAATAGACTGCCATTAATGTTTCTTATCTATATCTGTATCTATTTATGTAGATATTGGTATATGGCAGATTTATAAAAATTGCATTATGTGTTTCTGCTAATAGAGGAATCATAGCCATTTAGAATTTTTTTTAAATTCTGTACAAAAGGCTTATATAAGTTTTCTTTGCTGAATTTGATGGATGTTTTTCTGTTGTGTAATCTGATATGCCAGTTTGCTTAAAACATTTGCCAACACATTATGAAGTTATTAAATTTAAGGGACAGAGGTAGTATAGTTAGATATACTTTCTCTTAGGAAAAATAATGGGCAAAAATTTTTGTTGCAACTTTTCATATATATTTTCCCCTTACCAATTGTTTTATCCTTATAGTATTGTAGGCCCTGAAAGTAGAATTTTTCTTTAACTTATTTTGAGATTTGAGATTTAAATTTTATGTATTGTTTACAGTCAGAGTAAATCACTGGATTTCTTTTGTTTGTTTTGATTTGCTCTGTTTTATTCAGTCAAATCTAGAGTTTGAATCCTCTGCTAAAGAATTTGCATCCACTGGTGTAAACAGTGAAAGGTATTTGCTTGTTGAAAAAAAAAACTGGCAAAGTGAAAAGATACAGTCAAAAATCTAGAATTTCTTTAATTTTGCTTCTCTGACGAGTTGTGAAGCAAAATACCTGAAGTGAGTCTTTGGGTAGGGGAAGGGTATTGAGACCTTTTCTAGTATGAATATTTTTTAAGTTTGGGGGAAGAGAAACTTGCAGTGAAAAGGAGTTTTTTCATTCCTGAAAGTTGCAGATCCACAAAACTAACAGGATAATTGGGCAAATAAATTACATATAAACACACACAATCTATATATGTATATACAATGCTATATAGATATGTATTTATTATATCATAAACTACAGTAGGTAACTTTAAGGATTTCTTCCTATCCTTGTACAATGACATGAATGTCTTTCTTTGAAAACTGCAATGTATGTATGTTTCAAGGTTATTTAACAGTGTACTATGGTTTTATATCTTGACTTGCCTTGTACATCTTTCAATTCTGGAATATCTGTGTCTAAGCACAATATCTTCACACTGTGCTGTATTGCTGCTGAACTAAATGCACTTTTCCCCACATATGGGGCACTGGCTTCAAACAATTCAGTTCAGTATCATTACTTTTAATCTCATCTTTCCTTTCTTGGTAGTTGTTAATACAGTTATGGAAAAGAGGCACATTGCATAGAAGCCATTGGGGAGTTCAGTGGAAGTTCTGTAAGATGTGCATGTACTATTTGATGCGTTTTCTTTGCTTCACTGCTTTTAATACTTAGCAGTATTGTTGGTCTAAGTCAATTTGATTATTGAGGAGTCTCAGAGCAAGGTGCGTTCTAGATGTCATCCTAAAAAACACTTCATATATAATTAATCACTATTTTGTATAATTACATATTGCTGCTTGTGTGTTTTTTTTTTTTTCCATTTAGTTGGGCGTTGTGTTTTACACAAAACCATTTTTGAATTAAGGCTATGATATTAAGATAGAAATTTGGACTGTTGTTCTGCTTTTCCTGGCACTCAAATTCATGACTAGTTTTGAGGTCAAACCTATGTTCGTAATGAGAGATTTTATAAGGATCAACTAAGAAATGGAAGGCAGGTGAAGATATAAAACCCTAGAATGCTTAAATGTGCTGTAAAACTATTGTAGATGTCACTGGATTTTACCAAGTAATATCCTTTCTTTTTTTTTTCCCCCCATCTGCTGTGGCTTTTCAGTTAAAATTTTGTTTATAAAAGGN
benign
168,281
Mutation at chromosome 10, position 113588967, within HABP2: benign or pathogenic? If pathogenic, indicate the disease(s).
benign
CTGTCTCTTCCCAGTGAGCCAAGGATGTTCACCTACTCAGAGGAGGGGCAGATGGGTGCAATTTGCCCTAAACTCCTTCCCAGAAGATGGTTAAGAAAACAGCTCATTCAGGCTGGGCATGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAGAAAAATACAAAAATTAGGTGGACATGGTGGCACATGCCTGTAGTCCCAGCTACTGGGGCTGAGGCAGGAGAATCGCTTGGACGTGGGAAACGGAGGTTGCAGTGAGCCAAGAGGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCGAGACCCTGTCTCAAAAAAACAAAAACAAACAAACAAAAAAAAACCTCATTCAATTCCCTAGATAATTGAAGGCTTTCACTTGCAGGCTTTGGAAACAAATAGTTGTGAATTGAAACCTGTTTCTGTCTCTTACTGTATGGCTTTTATCAGTGATGAAAGCAATTCTTCAATCTCAGATGCCTAAACTATAAAATGGAAATCTATCTATAAGATCACAAGGTCGTGGCTAAGTTTAAAATAGAGAATTCATTTTTTAAAAACCTGTCAGTTGTAGTGTTTAAGCAGTATTAAGTTTTTGAGAGCTATCACCCTCAATGTCTTCTTCTCCTCACCATCATCATCCTCGCCACCTTCCGTGAGGGTTTAATATGAACCAGGCACTGTTCTATATACTTTACAAACAATCTTCACAAGAACCCTGGGGGATGGGGATCTATTGCTATCTATGGTTTACAGTGTGAGAAACTGAGGCCTAAGGTCACATGCCTGGCAGGTGGTAGGGCCTGGCTTAAAACCCAGGAGATCTAACCCCATAGACCATGCTGAGCACCTAGGCCACGCTGCCTTGGAGTCCCCAACCTCCTCCCCTATGTGTGCTGAGGGCCCCCGAGAACTCACAGTCATAACATCTGCATCACTGAGAGTTGGGAAGTGCAGCTGTGCGGCTCCTCTGTTAAGCCCGCGTGGACTCAGGGACGGAGGACACTGTTATCTTCTCTCCCTTAGAGTCTTGTATCATGTGAGATGTGGGGAGAGCCTTGTCACTGCTTTCCAGAGAAGCCCACGGAGGCTGGCAAGGGACTCCACCCCATCCCTCCCTGACACCCCCTGGAGAGAGGTGGGGGCATCTCCAGATGTCTCTGGTTCACGAGGATGAGCTTATGCCTCTGTTTCCCTTAGGGTGACTCTGGAGGCCCCCTGACCTGTGAGAAGGACGGCACCTACTACGTCTATGGGATAGTGAGCTGGGGCCTGGAGTGTGGGAAGAGGCCAGGGGTCTACACCCAAGTTACCAAATTCCTGAATTGGATCAAAGCCACCATCAAAAGTGAAAGTGGCTTCTAAGGTACTGTCTTCTGGACCTCAGAGCCCACTCTCCTTGGCACCCTGACACCGGGAGGCCTCATGGCCAACAATGGACACCTCCAGAGCCTCCAGGGGACCACACAGTAGACTATCCCTACTCTAAGCAGAGACAACTGCCACCCAGCCTGGGCCTTCCCAGACCAGCATTTGCACAATATCACCAGGCTTCTTCTGCCTCCCTTGGTAACCCAAGGAATGATGGAATCAACACAACATAGTATGTTTGCTTTCCTTACCCAATTGTACCTTCTAGAAAATCAGTGTTCACAGAGACTGCCTCCACCACAGGCATCCTGCAAATGCAGACTCCAGAATCCCCAGCATCAGCGGGAACCACCATCACATCTTTATTCCTCAGCCCAGACACTCGAGGCACTCAACAGAATCAGCCATCCACGTCTAGGTATCAGAGAGGACCACAAATACAACATTCTCCATCTGCTTTCAGAGTTATTATTTTAATAAAGGAAGATCTGGGATGGGCTGGTGGGCCATTCCAGCTTGCCGAAATCAAAGCCATCTGAAGCCTGTCTCTGGTGAACAAACTTCCTCTCTGGCCTCTCAGGAATCAGGGTGGACATGGCTCACAACAGCAGGGCCTTCTTCTTTTTGACGTGCAGAATCTCAGTGGCATCTGGGTTCACCTCCCCACTCTGATGATCTCCAGCCTCCACTGCTTCTGCCCCCCGCTGCTGAAATCAAACATACCCCAAGTTAAAATGAAGCTCCCCCACCCCCACTCCCGGCCCCGGTTCCCACAGGACACGCTAAGAAGCACAGGGAGCATTTAACAGGCTCACCCTCCCTTTCCTTTTCCCCTCTTCTACCCTCCCCAAGAAAAAGGGCCTTCAAGGCAGGAATGAGAAAGCAAAGCCAATCTCTCATTTAGACCTGGCTTCTTTCTTCTGAACAAAGTAGGGTTCAAAATGCAGACTGTCATATCCAGCGAGTCCCTGACCCTTTCTGCGAATGTAACGAGCAAGCAGTCAGCACAGCCTGGGCTGCCCTGGCCCGGGATTGATGTAGCCCCGGTAGGTTTGCCTCTGCAGAACTAATGGCTGTGACTTCAGAGAAAGCCCTGCAGGAAGTTTAACCTGCGTGTCATCTGCCTGGTCATCTCAGACCCATGAAATTAGGCGCCTTGTTTGAGCTGCGTTTCACACTTCTTTAGAGCTAGCTGACCTTTGGCCAAAAATAAACTTTGAAAAGAAACAATGAGTTTGTCTTTCCCCATGGCCTTGCAAGCCAGGGGTGGCTTTGCAGCTTGCTACTCACGTAAGCTCCCTGGAGACCCAGGCCCCTTGCGTTGGCCAGTTCCGCAGCCCGCCGAGCCATTTCCACTTTGTAGGAGCCAGGAGGGGTCCAGCCAACACCTCTGGTCAGGTTCAAGTCTGATTTATACTTGACCTTGAGGGTAAGAGGGAAGCAAGAGGAATATGTCAGCAGGGTTTGGAGCGGTTTGACCATTAAGTAAAGAAGATTAAAAAGGCAGCCACAGTATGAGACTATGTTGTCTGTCATCAGTAAAGCCAGAACAAGGGGAACAAATTTATCATAAGCAGCATCTCCCTGGCACAGGGGCCGCAATGTGCTGTGAGTCCAGCCGGCATGTTGCTGTCTCTTGCATCTTCCCATTCAAGTGACAAAAGTTACAGTTGGGAGTGGGTGGGGTAGTGACACCTGCTCCACACACTCTGTGGCCTTAGGGAAGCCACTTCCCTTCTCTGGGCTTCAGTTTCTTCCCAGAGAAAGTGCAAAGGCTGGGTTAATAGCTAAGATCCCTTGGAAACAGTTTAGCATAGCCATCGAGAGCTTGGGCCCTCACAGCAAACCAAAAGGGGTTGGTATCCCAGGTCTGCCACTTATTTGTTATGGGATCTTGAGTAAGTCACTGAACCTCTCTGAGCCTCAAGTTCCTCATCTGTAAAATGAAGCAGCCCTGGGGTTGGCATAAGTGCCAATGGCAGGAGGCTTGGAAAGCATTTGACACAGAGCCTGGCCCACAGGAGACACTCGAGAAGTGGTGGTTATTATTGTTATTCTTTCTGGCACTAAAGTGTTAGGTGTCTTGGATTCTCTCTCAGCCCAGCTCCCCCAGAAGCTAACAATGGAACGTGGCATTATGGCCATCTCTTAGGAAGAGGCACCAGGGGAAGGGCCTCAAGGGAGTGGGTGGAGGTGGCTCACATCACTCTGCAGCTGGTGGGCCTTCTGAGCATGCCTGAGGCCCAGCTGCTCCGGGTCGCAGGTGGGCTGGGGCAGGGGCTGCCTGTAGTGCACATCACTGGCCAGCTGCTGGCTCCTCTTGGCCTGAAGGAGGCCGGGCTGGTCTGTGCTGCTGTGAAACTGGGACCGACTCTTGGCAAAGTCCTTCTTGTACTCATTGTCACTCTGGAGCCTGCCAACGTTGAGGAAATGCTTCATCCTTGGGTCATCGTCGACACTGCGGTACCCGATCTGCAGGCCTCGGTCCCGCAGGAAAGCCTCTTTGTACCGGAACTGCAAGTCAGAGGAGCAGAGGCAGATCATGGGTGCCTACCTCCCCCAGGACCAGCCTCACATATGGGGCCATCCCAGGGCATTCTCAGCAGGAGGCTCAAGAGTGGGTTAGAGGCACAGGCTTT
CTGTCTCTTCCCAGTGAGCCAAGGATGTTCACCTACTCAGAGGAGGGGCAGATGGGTGCAATTTGCCCTAAACTCCTTCCCAGAAGATGGTTAAGAAAACAGCTCATTCAGGCTGGGCATGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAGAAAAATACAAAAATTAGGTGGACATGGTGGCACATGCCTGTAGTCCCAGCTACTGGGGCTGAGGCAGGAGAATCGCTTGGACGTGGGAAACGGAGGTTGCAGTGAGCCAAGAGGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCGAGACCCTGTCTCAAAAAAACAAAAACAAACAAACAAAAAAAAACCTCATTCAATTCCCTAGATAATTGAAGGCTTTCACTTGCAGGCTTTGGAAACAAATAGTTGTGAATTGAAACCTGTTTCTGTCTCTTACTGTATGGCTTTTATCAGTGATGAAAGCAATTCTTCAATCTCAGATGCCTAAACTATAAAATGGAAATCTATCTATAAGATCACAAGGTCGTGGCTAAGTTTAAAATAGAGAATTCATTTTTTAAAAACCTGTCAGTTGTAGTGTTTAAGCAGTATTAAGTTTTTGAGAGCTATCACCCTCAATGTCTTCTTCTCCTCACCATCATCATCCTCGCCACCTTCCGTGAGGGTTTAATATGAACCAGGCACTGTTCTATATACTTTACAAACAATCTTCACAAGAACCCTGGGGGATGGGGATCTATTGCTATCTATGGTTTACAGTGTGAGAAACTGAGGCCTAAGGTCACATGCCTGGCAGGTGGTAGGGCCTGGCTTAAAACCCAGGAGATCTAACCCCATAGACCATGCTGAGCACCTAGGCCACGCTGCCTTGGAGTCCCCAACCTCCTCCCCTATGTGTGCTGAGGGCCCCCGAGAACTCACAGTCATAACATCTGCATCACTGAGAGTTGGGAAGTGCAGCTGTGCGGCTCCTCTGTTAAGCCCGCGTGGACTCAGGGACGGAGGACACTGTTATCTTCTCTCCCTTAGAGTCTTGTATCATGTGAGATGTGGGGAGAGCCTTGTCACTGCTTTCCAGAGAAGCCCACGGAGGCTGGCAAGGGACTCCACCCCATCCCTCCCTGACACCCCCTGGAGAGAGGTGGGGGCATCTCCAGATGTCTCTGGTTCACGAGGATGAGCTTATGCCTCTGTTTCCCTTAGGGTGACTCTGGAGGCCCCCTGACCTGTGAGAAGGACGGCACCTACTACGTCTATGGGATAGTGAGCTGGGGCCTGGAGTGTGGGAAGAGGCCAGGGGTCTACACCCAAGTTACCAAATTCCTGAATTGGATCAAAGCCACCATCAAAAGTGAAAGTGGCTTCTAAGGTACTGTCTTCTGGACCTCAGAGCCCACTCTCCTTGGCACCCTGACACCGGGAGGCCTCATGGCCAACAATGGACACCTCCAGAGCCTCCAGGGGACCACACAGTAGACTATCCCTACTCTAAGCAGAGACAACTGCCACCCAGCCTGGGCCTTCCCAGACCAGCATTTGCACAATATCACCAGGCTTCTTCTGCCTCCCTTGGTAACCCAAGGAATGATGGAATCAACACAACATAGTATGTTTGCTTTCCTTACCCAATTGTACCTTCTAGAAAATCAGTGTTCACAGAGACTGCCTCCACCACAGGCATCCTGCAAATGCAGACTCCAGAATCCCCAGCATCAGCGGGAACCACCATCACATCTTTATTCCTCAGCCCAGACACTCGAGGCACTCAACAGAATCAGCCATCCACGTCTAGGTATCAGAGAGGACCACAAATACAACATTCTCCATCTGCTTTCAGAGTTATTATTTTAATAAAGGAAGATCTGGGATGGGCTGGTGGGCCATTCCAGCTTGCCGAAATCAAAGCCATCTGAAGCCTGTCTCTGGTGAACAAACTTCCTCTCTGGCCTCTCAGGAATCAGGGTGGCATGGCTCACAACAGCAGGGCCTTCTTCTTTTTGACGTGCAGAATCTCAGTGGCATCTGGGTTCACCTCCCCACTCTGATGATCTCCAGCCTCCACTGCTTCTGCCCCCCGCTGCTGAAATCAAACATACCCCAAGTTAAAATGAAGCTCCCCCACCCCCACTCCCGGCCCCGGTTCCCACAGGACACGCTAAGAAGCACAGGGAGCATTTAACAGGCTCACCCTCCCTTTCCTTTTCCCCTCTTCTACCCTCCCCAAGAAAAAGGGCCTTCAAGGCAGGAATGAGAAAGCAAAGCCAATCTCTCATTTAGACCTGGCTTCTTTCTTCTGAACAAAGTAGGGTTCAAAATGCAGACTGTCATATCCAGCGAGTCCCTGACCCTTTCTGCGAATGTAACGAGCAAGCAGTCAGCACAGCCTGGGCTGCCCTGGCCCGGGATTGATGTAGCCCCGGTAGGTTTGCCTCTGCAGAACTAATGGCTGTGACTTCAGAGAAAGCCCTGCAGGAAGTTTAACCTGCGTGTCATCTGCCTGGTCATCTCAGACCCATGAAATTAGGCGCCTTGTTTGAGCTGCGTTTCACACTTCTTTAGAGCTAGCTGACCTTTGGCCAAAAATAAACTTTGAAAAGAAACAATGAGTTTGTCTTTCCCCATGGCCTTGCAAGCCAGGGGTGGCTTTGCAGCTTGCTACTCACGTAAGCTCCCTGGAGACCCAGGCCCCTTGCGTTGGCCAGTTCCGCAGCCCGCCGAGCCATTTCCACTTTGTAGGAGCCAGGAGGGGTCCAGCCAACACCTCTGGTCAGGTTCAAGTCTGATTTATACTTGACCTTGAGGGTAAGAGGGAAGCAAGAGGAATATGTCAGCAGGGTTTGGAGCGGTTTGACCATTAAGTAAAGAAGATTAAAAAGGCAGCCACAGTATGAGACTATGTTGTCTGTCATCAGTAAAGCCAGAACAAGGGGAACAAATTTATCATAAGCAGCATCTCCCTGGCACAGGGGCCGCAATGTGCTGTGAGTCCAGCCGGCATGTTGCTGTCTCTTGCATCTTCCCATTCAAGTGACAAAAGTTACAGTTGGGAGTGGGTGGGGTAGTGACACCTGCTCCACACACTCTGTGGCCTTAGGGAAGCCACTTCCCTTCTCTGGGCTTCAGTTTCTTCCCAGAGAAAGTGCAAAGGCTGGGTTAATAGCTAAGATCCCTTGGAAACAGTTTAGCATAGCCATCGAGAGCTTGGGCCCTCACAGCAAACCAAAAGGGGTTGGTATCCCAGGTCTGCCACTTATTTGTTATGGGATCTTGAGTAAGTCACTGAACCTCTCTGAGCCTCAAGTTCCTCATCTGTAAAATGAAGCAGCCCTGGGGTTGGCATAAGTGCCAATGGCAGGAGGCTTGGAAAGCATTTGACACAGAGCCTGGCCCACAGGAGACACTCGAGAAGTGGTGGTTATTATTGTTATTCTTTCTGGCACTAAAGTGTTAGGTGTCTTGGATTCTCTCTCAGCCCAGCTCCCCCAGAAGCTAACAATGGAACGTGGCATTATGGCCATCTCTTAGGAAGAGGCACCAGGGGAAGGGCCTCAAGGGAGTGGGTGGAGGTGGCTCACATCACTCTGCAGCTGGTGGGCCTTCTGAGCATGCCTGAGGCCCAGCTGCTCCGGGTCGCAGGTGGGCTGGGGCAGGGGCTGCCTGTAGTGCACATCACTGGCCAGCTGCTGGCTCCTCTTGGCCTGAAGGAGGCCGGGCTGGTCTGTGCTGCTGTGAAACTGGGACCGACTCTTGGCAAAGTCCTTCTTGTACTCATTGTCACTCTGGAGCCTGCCAACGTTGAGGAAATGCTTCATCCTTGGGTCATCGTCGACACTGCGGTACCCGATCTGCAGGCCTCGGTCCCGCAGGAAAGCCTCTTTGTACCGGAACTGCAAGTCAGAGGAGCAGAGGCAGATCATGGGTGCCTACCTCCCCCAGGACCAGCCTCACATATGGGGCCATCCCAGGGCATTCTCAGCAGGAGGCTCAAGAGTGGGTTAGAGGCACAGGCTTTN
benign
168,375
Is the variant located on chromosome 10 at position 113588989, gene HABP2, benign or pathogenic? If pathogenic, specify the disease(s) linked.
benign
GGATGTTCACCTACTCAGAGGAGGGGCAGATGGGTGCAATTTGCCCTAAACTCCTTCCCAGAAGATGGTTAAGAAAACAGCTCATTCAGGCTGGGCATGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAGAAAAATACAAAAATTAGGTGGACATGGTGGCACATGCCTGTAGTCCCAGCTACTGGGGCTGAGGCAGGAGAATCGCTTGGACGTGGGAAACGGAGGTTGCAGTGAGCCAAGAGGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCGAGACCCTGTCTCAAAAAAACAAAAACAAACAAACAAAAAAAAACCTCATTCAATTCCCTAGATAATTGAAGGCTTTCACTTGCAGGCTTTGGAAACAAATAGTTGTGAATTGAAACCTGTTTCTGTCTCTTACTGTATGGCTTTTATCAGTGATGAAAGCAATTCTTCAATCTCAGATGCCTAAACTATAAAATGGAAATCTATCTATAAGATCACAAGGTCGTGGCTAAGTTTAAAATAGAGAATTCATTTTTTAAAAACCTGTCAGTTGTAGTGTTTAAGCAGTATTAAGTTTTTGAGAGCTATCACCCTCAATGTCTTCTTCTCCTCACCATCATCATCCTCGCCACCTTCCGTGAGGGTTTAATATGAACCAGGCACTGTTCTATATACTTTACAAACAATCTTCACAAGAACCCTGGGGGATGGGGATCTATTGCTATCTATGGTTTACAGTGTGAGAAACTGAGGCCTAAGGTCACATGCCTGGCAGGTGGTAGGGCCTGGCTTAAAACCCAGGAGATCTAACCCCATAGACCATGCTGAGCACCTAGGCCACGCTGCCTTGGAGTCCCCAACCTCCTCCCCTATGTGTGCTGAGGGCCCCCGAGAACTCACAGTCATAACATCTGCATCACTGAGAGTTGGGAAGTGCAGCTGTGCGGCTCCTCTGTTAAGCCCGCGTGGACTCAGGGACGGAGGACACTGTTATCTTCTCTCCCTTAGAGTCTTGTATCATGTGAGATGTGGGGAGAGCCTTGTCACTGCTTTCCAGAGAAGCCCACGGAGGCTGGCAAGGGACTCCACCCCATCCCTCCCTGACACCCCCTGGAGAGAGGTGGGGGCATCTCCAGATGTCTCTGGTTCACGAGGATGAGCTTATGCCTCTGTTTCCCTTAGGGTGACTCTGGAGGCCCCCTGACCTGTGAGAAGGACGGCACCTACTACGTCTATGGGATAGTGAGCTGGGGCCTGGAGTGTGGGAAGAGGCCAGGGGTCTACACCCAAGTTACCAAATTCCTGAATTGGATCAAAGCCACCATCAAAAGTGAAAGTGGCTTCTAAGGTACTGTCTTCTGGACCTCAGAGCCCACTCTCCTTGGCACCCTGACACCGGGAGGCCTCATGGCCAACAATGGACACCTCCAGAGCCTCCAGGGGACCACACAGTAGACTATCCCTACTCTAAGCAGAGACAACTGCCACCCAGCCTGGGCCTTCCCAGACCAGCATTTGCACAATATCACCAGGCTTCTTCTGCCTCCCTTGGTAACCCAAGGAATGATGGAATCAACACAACATAGTATGTTTGCTTTCCTTACCCAATTGTACCTTCTAGAAAATCAGTGTTCACAGAGACTGCCTCCACCACAGGCATCCTGCAAATGCAGACTCCAGAATCCCCAGCATCAGCGGGAACCACCATCACATCTTTATTCCTCAGCCCAGACACTCGAGGCACTCAACAGAATCAGCCATCCACGTCTAGGTATCAGAGAGGACCACAAATACAACATTCTCCATCTGCTTTCAGAGTTATTATTTTAATAAAGGAAGATCTGGGATGGGCTGGTGGGCCATTCCAGCTTGCCGAAATCAAAGCCATCTGAAGCCTGTCTCTGGTGAACAAACTTCCTCTCTGGCCTCTCAGGAATCAGGGTGGACATGGCTCACAACAGCAGGGCCTTCTTCTTTTTGACGTGCAGAATCTCAGTGGCATCTGGGTTCACCTCCCCACTCTGATGATCTCCAGCCTCCACTGCTTCTGCCCCCCGCTGCTGAAATCAAACATACCCCAAGTTAAAATGAAGCTCCCCCACCCCCACTCCCGGCCCCGGTTCCCACAGGACACGCTAAGAAGCACAGGGAGCATTTAACAGGCTCACCCTCCCTTTCCTTTTCCCCTCTTCTACCCTCCCCAAGAAAAAGGGCCTTCAAGGCAGGAATGAGAAAGCAAAGCCAATCTCTCATTTAGACCTGGCTTCTTTCTTCTGAACAAAGTAGGGTTCAAAATGCAGACTGTCATATCCAGCGAGTCCCTGACCCTTTCTGCGAATGTAACGAGCAAGCAGTCAGCACAGCCTGGGCTGCCCTGGCCCGGGATTGATGTAGCCCCGGTAGGTTTGCCTCTGCAGAACTAATGGCTGTGACTTCAGAGAAAGCCCTGCAGGAAGTTTAACCTGCGTGTCATCTGCCTGGTCATCTCAGACCCATGAAATTAGGCGCCTTGTTTGAGCTGCGTTTCACACTTCTTTAGAGCTAGCTGACCTTTGGCCAAAAATAAACTTTGAAAAGAAACAATGAGTTTGTCTTTCCCCATGGCCTTGCAAGCCAGGGGTGGCTTTGCAGCTTGCTACTCACGTAAGCTCCCTGGAGACCCAGGCCCCTTGCGTTGGCCAGTTCCGCAGCCCGCCGAGCCATTTCCACTTTGTAGGAGCCAGGAGGGGTCCAGCCAACACCTCTGGTCAGGTTCAAGTCTGATTTATACTTGACCTTGAGGGTAAGAGGGAAGCAAGAGGAATATGTCAGCAGGGTTTGGAGCGGTTTGACCATTAAGTAAAGAAGATTAAAAAGGCAGCCACAGTATGAGACTATGTTGTCTGTCATCAGTAAAGCCAGAACAAGGGGAACAAATTTATCATAAGCAGCATCTCCCTGGCACAGGGGCCGCAATGTGCTGTGAGTCCAGCCGGCATGTTGCTGTCTCTTGCATCTTCCCATTCAAGTGACAAAAGTTACAGTTGGGAGTGGGTGGGGTAGTGACACCTGCTCCACACACTCTGTGGCCTTAGGGAAGCCACTTCCCTTCTCTGGGCTTCAGTTTCTTCCCAGAGAAAGTGCAAAGGCTGGGTTAATAGCTAAGATCCCTTGGAAACAGTTTAGCATAGCCATCGAGAGCTTGGGCCCTCACAGCAAACCAAAAGGGGTTGGTATCCCAGGTCTGCCACTTATTTGTTATGGGATCTTGAGTAAGTCACTGAACCTCTCTGAGCCTCAAGTTCCTCATCTGTAAAATGAAGCAGCCCTGGGGTTGGCATAAGTGCCAATGGCAGGAGGCTTGGAAAGCATTTGACACAGAGCCTGGCCCACAGGAGACACTCGAGAAGTGGTGGTTATTATTGTTATTCTTTCTGGCACTAAAGTGTTAGGTGTCTTGGATTCTCTCTCAGCCCAGCTCCCCCAGAAGCTAACAATGGAACGTGGCATTATGGCCATCTCTTAGGAAGAGGCACCAGGGGAAGGGCCTCAAGGGAGTGGGTGGAGGTGGCTCACATCACTCTGCAGCTGGTGGGCCTTCTGAGCATGCCTGAGGCCCAGCTGCTCCGGGTCGCAGGTGGGCTGGGGCAGGGGCTGCCTGTAGTGCACATCACTGGCCAGCTGCTGGCTCCTCTTGGCCTGAAGGAGGCCGGGCTGGTCTGTGCTGCTGTGAAACTGGGACCGACTCTTGGCAAAGTCCTTCTTGTACTCATTGTCACTCTGGAGCCTGCCAACGTTGAGGAAATGCTTCATCCTTGGGTCATCGTCGACACTGCGGTACCCGATCTGCAGGCCTCGGTCCCGCAGGAAAGCCTCTTTGTACCGGAACTGCAAGTCAGAGGAGCAGAGGCAGATCATGGGTGCCTACCTCCCCCAGGACCAGCCTCACATATGGGGCCATCCCAGGGCATTCTCAGCAGGAGGCTCAAGAGTGGGTTAGAGGCACAGGCTTTGGATTCAAATAGACCTATCTGT
GGATGTTCACCTACTCAGAGGAGGGGCAGATGGGTGCAATTTGCCCTAAACTCCTTCCCAGAAGATGGTTAAGAAAACAGCTCATTCAGGCTGGGCATGCGTGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTAGCCAACATGGTGAAACCCTGTCTCTACTAAAAGAAAAATACAAAAATTAGGTGGACATGGTGGCACATGCCTGTAGTCCCAGCTACTGGGGCTGAGGCAGGAGAATCGCTTGGACGTGGGAAACGGAGGTTGCAGTGAGCCAAGAGGGTGCCACTGCACTCCAGCCTGGGCAACAAAGCGAGACCCTGTCTCAAAAAAACAAAAACAAACAAACAAAAAAAAACCTCATTCAATTCCCTAGATAATTGAAGGCTTTCACTTGCAGGCTTTGGAAACAAATAGTTGTGAATTGAAACCTGTTTCTGTCTCTTACTGTATGGCTTTTATCAGTGATGAAAGCAATTCTTCAATCTCAGATGCCTAAACTATAAAATGGAAATCTATCTATAAGATCACAAGGTCGTGGCTAAGTTTAAAATAGAGAATTCATTTTTTAAAAACCTGTCAGTTGTAGTGTTTAAGCAGTATTAAGTTTTTGAGAGCTATCACCCTCAATGTCTTCTTCTCCTCACCATCATCATCCTCGCCACCTTCCGTGAGGGTTTAATATGAACCAGGCACTGTTCTATATACTTTACAAACAATCTTCACAAGAACCCTGGGGGATGGGGATCTATTGCTATCTATGGTTTACAGTGTGAGAAACTGAGGCCTAAGGTCACATGCCTGGCAGGTGGTAGGGCCTGGCTTAAAACCCAGGAGATCTAACCCCATAGACCATGCTGAGCACCTAGGCCACGCTGCCTTGGAGTCCCCAACCTCCTCCCCTATGTGTGCTGAGGGCCCCCGAGAACTCACAGTCATAACATCTGCATCACTGAGAGTTGGGAAGTGCAGCTGTGCGGCTCCTCTGTTAAGCCCGCGTGGACTCAGGGACGGAGGACACTGTTATCTTCTCTCCCTTAGAGTCTTGTATCATGTGAGATGTGGGGAGAGCCTTGTCACTGCTTTCCAGAGAAGCCCACGGAGGCTGGCAAGGGACTCCACCCCATCCCTCCCTGACACCCCCTGGAGAGAGGTGGGGGCATCTCCAGATGTCTCTGGTTCACGAGGATGAGCTTATGCCTCTGTTTCCCTTAGGGTGACTCTGGAGGCCCCCTGACCTGTGAGAAGGACGGCACCTACTACGTCTATGGGATAGTGAGCTGGGGCCTGGAGTGTGGGAAGAGGCCAGGGGTCTACACCCAAGTTACCAAATTCCTGAATTGGATCAAAGCCACCATCAAAAGTGAAAGTGGCTTCTAAGGTACTGTCTTCTGGACCTCAGAGCCCACTCTCCTTGGCACCCTGACACCGGGAGGCCTCATGGCCAACAATGGACACCTCCAGAGCCTCCAGGGGACCACACAGTAGACTATCCCTACTCTAAGCAGAGACAACTGCCACCCAGCCTGGGCCTTCCCAGACCAGCATTTGCACAATATCACCAGGCTTCTTCTGCCTCCCTTGGTAACCCAAGGAATGATGGAATCAACACAACATAGTATGTTTGCTTTCCTTACCCAATTGTACCTTCTAGAAAATCAGTGTTCACAGAGACTGCCTCCACCACAGGCATCCTGCAAATGCAGACTCCAGAATCCCCAGCATCAGCGGGAACCACCATCACATCTTTATTCCTCAGCCCAGACACTCGAGGCACTCAACAGAATCAGCCATCCACGTCTAGGTATCAGAGAGGACCACAAATACAACATTCTCCATCTGCTTTCAGAGTTATTATTTTAATAAAGGAAGATCTGGGATGGGCTGGTGGGCCATTCCAGCTTGCCGAAATCAAAGCCATCTGAAGCCTGTCTCTGGTGAACAAACTTCCTCTCTGGCCTCTCAGGAATCAGGGTGGACATGGCTCACAACAGCAGGGCCTTCTTTTTGACGTGCAGAATCTCAGTGGCATCTGGGTTCACCTCCCCACTCTGATGATCTCCAGCCTCCACTGCTTCTGCCCCCCGCTGCTGAAATCAAACATACCCCAAGTTAAAATGAAGCTCCCCCACCCCCACTCCCGGCCCCGGTTCCCACAGGACACGCTAAGAAGCACAGGGAGCATTTAACAGGCTCACCCTCCCTTTCCTTTTCCCCTCTTCTACCCTCCCCAAGAAAAAGGGCCTTCAAGGCAGGAATGAGAAAGCAAAGCCAATCTCTCATTTAGACCTGGCTTCTTTCTTCTGAACAAAGTAGGGTTCAAAATGCAGACTGTCATATCCAGCGAGTCCCTGACCCTTTCTGCGAATGTAACGAGCAAGCAGTCAGCACAGCCTGGGCTGCCCTGGCCCGGGATTGATGTAGCCCCGGTAGGTTTGCCTCTGCAGAACTAATGGCTGTGACTTCAGAGAAAGCCCTGCAGGAAGTTTAACCTGCGTGTCATCTGCCTGGTCATCTCAGACCCATGAAATTAGGCGCCTTGTTTGAGCTGCGTTTCACACTTCTTTAGAGCTAGCTGACCTTTGGCCAAAAATAAACTTTGAAAAGAAACAATGAGTTTGTCTTTCCCCATGGCCTTGCAAGCCAGGGGTGGCTTTGCAGCTTGCTACTCACGTAAGCTCCCTGGAGACCCAGGCCCCTTGCGTTGGCCAGTTCCGCAGCCCGCCGAGCCATTTCCACTTTGTAGGAGCCAGGAGGGGTCCAGCCAACACCTCTGGTCAGGTTCAAGTCTGATTTATACTTGACCTTGAGGGTAAGAGGGAAGCAAGAGGAATATGTCAGCAGGGTTTGGAGCGGTTTGACCATTAAGTAAAGAAGATTAAAAAGGCAGCCACAGTATGAGACTATGTTGTCTGTCATCAGTAAAGCCAGAACAAGGGGAACAAATTTATCATAAGCAGCATCTCCCTGGCACAGGGGCCGCAATGTGCTGTGAGTCCAGCCGGCATGTTGCTGTCTCTTGCATCTTCCCATTCAAGTGACAAAAGTTACAGTTGGGAGTGGGTGGGGTAGTGACACCTGCTCCACACACTCTGTGGCCTTAGGGAAGCCACTTCCCTTCTCTGGGCTTCAGTTTCTTCCCAGAGAAAGTGCAAAGGCTGGGTTAATAGCTAAGATCCCTTGGAAACAGTTTAGCATAGCCATCGAGAGCTTGGGCCCTCACAGCAAACCAAAAGGGGTTGGTATCCCAGGTCTGCCACTTATTTGTTATGGGATCTTGAGTAAGTCACTGAACCTCTCTGAGCCTCAAGTTCCTCATCTGTAAAATGAAGCAGCCCTGGGGTTGGCATAAGTGCCAATGGCAGGAGGCTTGGAAAGCATTTGACACAGAGCCTGGCCCACAGGAGACACTCGAGAAGTGGTGGTTATTATTGTTATTCTTTCTGGCACTAAAGTGTTAGGTGTCTTGGATTCTCTCTCAGCCCAGCTCCCCCAGAAGCTAACAATGGAACGTGGCATTATGGCCATCTCTTAGGAAGAGGCACCAGGGGAAGGGCCTCAAGGGAGTGGGTGGAGGTGGCTCACATCACTCTGCAGCTGGTGGGCCTTCTGAGCATGCCTGAGGCCCAGCTGCTCCGGGTCGCAGGTGGGCTGGGGCAGGGGCTGCCTGTAGTGCACATCACTGGCCAGCTGCTGGCTCCTCTTGGCCTGAAGGAGGCCGGGCTGGTCTGTGCTGCTGTGAAACTGGGACCGACTCTTGGCAAAGTCCTTCTTGTACTCATTGTCACTCTGGAGCCTGCCAACGTTGAGGAAATGCTTCATCCTTGGGTCATCGTCGACACTGCGGTACCCGATCTGCAGGCCTCGGTCCCGCAGGAAAGCCTCTTTGTACCGGAACTGCAAGTCAGAGGAGCAGAGGCAGATCATGGGTGCCTACCTCCCCCAGGACCAGCCTCACATATGGGGCCATCCCAGGGCATTCTCAGCAGGAGGCTCAAGAGTGGGTTAGAGGCACAGGCTTTGGATTCAAATAGACCTATCTGTNNN
benign
168,376
Does the variant impacting EMX2 on chromosome 10, position 117543426, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
AATAAACAGAGAGCAGCGCCAGCAGCCTGGGGATGTGATCATAATTATGCCGCCGCGCGAGCCAATGGGGACGAGGGAACTCGGTCCTAAAATCATCCCAAAACCGAAGGCGAGCTCGAAAATGCGGACACGGCCCGGGACCGGAGATGCGATCCGTAGTCGTTAGTTGCACTGGGTTTGCACAGCAACCACCACCCCCCCACCAACCCCGGGACAACAGATGGCATAATAATAATAATAGAAATAATAATAATAAAATAATATCATCTATAATAATAATAACATTGACCACACTGACAAAAATAATTACGACGGAACCTTAATAGTACAGTAGCACCATATCGGGCTCTCCCCTGACCTTGGACTGCCGGTCCCAGATATTCCAGAAGGAATTGTTTTGGGGAAGGAGGTGAGCACCCTCCCAGACAGAAAACGCTAGAGACCGTGGGGCGAGAGAGGGAGAGAGTTGGAAGCCCACTGCTCCGGCGGGGTCGGCAGCTCCCGGTCTCAACTCGCAAACGAACGAGCCGGGTCAAGAATCGCGAACGCACCGACCCTGGGACCTCGAGGCTAAGCGTGGTTGATGGGGTGGGAGGACCCCGTACCCCTCACTCCAGGATCCCTCCTGGCCTAGGAAACCGCTGGGAGTTTTGCTAAGTGTGGGGATTGGTATAACCGAACGGCGCCTTTAGCCCGGGAACCAGCCCCTGCCCGCTTACCCTCGCGGTGCTCTTGGGGCGATCCCAGTTCTCCCGACGCGGGGCCGCGTAAGGCAGCAGCGGCGGAGCGCTAGGCTAGAGGAATCTGTCTGTCCTTCTGTCCTACCAGCTTGGGCGAGGCAGGCTCGGGATTCAGGGGGCCGCAGCGGAGGCGGCGCCGGCCAGGGACTCTGCAGGGACCGGGGTGCCCCGGAGGGAGTGGTGCTGGTGGAGGAGGAGGCGGTGGCTGAGGGGGAGTAGGTGGGGAAAGAGGAGGAGGAAGAAGAGGAGGAGGAGGAAGAAGAGGAGGAGGAGGAGAAGAAGAAACTGGAGGAAGAGGAGGAGGCGAAGGAGGAGGAGAAGCCGCAGCGGGCGCCGCAGGAGCGAGTGAGCTGGGAGCGAGGGGCGAAGGCGCGGAGAAGCCCGGCCGCCCGGTGGGCGGCAGAAGGCTCAGCCGAGGCGGCGGCGCCGACTCCGTTCCACTCTCGGCCCGGATCCAGGCCTCCGGGTTCCCAGGCGCTCACCTCCCTCTGACGCACTTTAAAGAGTCTCCCCCCTTCCACCTCAGGGCGAGTAATAGCGACCAATCATCAAGCCATTTACCAGGCTTCGGAGGAAGCTGTTTATGTGATCCCCGCACTAATTAGGCTCATGAACTAACAAATCGTTTGCACAACTTGTGAAGAAGCGAACACTTCCATGGATTGTCCTTGGACTTAGGGCGCCCTGCCCGCCTTTTGCAGAGGAGAAAAAACTTTTTTTTTTTTTTGCCTCCCCCGAGAACTTTCCCCCCTTCTCCTCCCTGCCTCTAACTCCGATCCCCCCACGCCATCTCGCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAGAAAAAAAATTACCCCAATCCACGCCTGCAAATTCTTCTGGAAGGATTTTCCCCCCTCTCTTCAGGTTGGGCGCGTTTGGTGCAAGATTCTCGGGATCCTCGGCTTTGCCTCTCCCTCTCCCTCCCCCCTCCTTTCCTTTTTCCTTTCCTTTCCTTTCTTTCTTCCTTTCCTTCCCCCCACCCCCACCCCCACCCCAAACAAACGAGTCCCCAATTCTCGTCCGTCCTCGCCGCGGGCAGCGGGCGGCGGAGGCAGCGTGCGGCGGTCGCCAGGAGCTGGGAGCCCAGGGCGCCCGCTCCTCGGCGCAGCATGTTCCAGCCGGCGCCCAAGCGCTGCTTCACCATCGAGTCGCTGGTGGCCAAGGACAGTCCCCTGCCCGCCTCGCGCTCCGAGGACCCCATCCGTCCCGCGGCACTCAGCTACGCTAACTCCAGCCCCATAAATCCGTTCCTCAACGGCTTCCACTCGGCCGCCGCCGCCGCCGCCGGTAGGGGCGTCTACTCCAACCCGGACTTGGTGTTCGCCGAGGCGGTCTCGCACCCGCCCAACCCCGCCGTGCCAGTGCACCCGGTGCCGCCGCCGCACGCCCTGGCCGCCCACCCCCTACCCTCCTCGCACTCGCCACACCCCCTATTCGCCTCGCAGCAGCGGGATCCGTCCACCTTCTACCCCTGGCTCATCCACCGCTACCGATATCTGGGTCATCGCTTCCAAGGTACGTGCCACGTCGCGGAACTGCAGCGCGCCGCTCCCGCCGCATCCTTCACTGCCCCCGGCCTGCTCCGGGTGGGCGCTTGGCAAGGCCTGGGCGGAGGTTCCTCCGGCTCGCGGGCCAGCGCGCCCTGTTGGGAAACTAGGCGGCGCGGGGCCGGGCGTGGTGTCGATCCCCAGTCTCCGAAGCTACGACTGGTTTGGAGTGATGGCCTGCGGGCCGCTTGACCCTTTGGGAAGGGGTGCGAACGGAGAAGTTGTCCCCCAGTGCGCTCGAATCAGAGCAGGCTGGGCTGTGCGTGCCCGGCGCCGCGGAGCCCAGAGCCCGCGGGATCCCCAGGCTCCTGGTACCCTCGGCAATGCCCCCAACCGTCCTGGCTCCGAGGGGCGCGGACAGGACTCGGCCGCCAGGCTTGCTTTCGACTGCGTTCGACCCTGTTCACCACCCACTTTGCGCCCCTTCAGTCCAGACCCGCGGCTTCTTAGTCTTCCACCCTCTTCTGGAGGCGAGAGGATCCTCGCGCCCCGGGAGAAAAGTATGGGATTTGTTTTTTCTTTCCTGCTTTTCGGAGGCCTGGGGAGGGGCGGGAACCCGTGCGGGAGGAAAGCTCCAGGGCTTGGCGCTCTCGCCGCGACCTGCTTAATTGGGGCGCCGAGCAGCCACAGCGGGAAGGCAGGTTCGGTCTGGTTTTTGTTTTTCTTTCTTTCTTTAAAAAAAAAAAAAAAGAACCTGGTCAGGAAACTGTCTTAGAGGGAAATATCTGTTCGTGTGTTTTCATTTCTTGCGATATTTTTTATTTGTTTGTTTTTCTCTGGGTACGGGGTGGGAGGAGGAGAGTTAAAACTTCAGAAAAAGGAGTAATTAGTTTACGGATTGGAGTCAGTAAAAGACCTACCTCCGGCGGCAGCCGATCAATACTCCGCGGCTTGTCCATTCATTAACCCATTGCGTTCCTGCCGGAGCCTAGAATCGGGTAGATGTCACCCCCCTCCCCATATTTTAAAAAATCAAACCAAAGGAAAAAAAACCCAAAAAGCCTTTTACCCTTAATCCCGAACTGGATTTGCCTGCATCCTGCCTGGACTGTCGGCTTGTTTTTCTTTGTTTGGGTTTTCGGTGAATCGATTTCCTATGCTAATGAGTGAACCCAAAACTCTGAGGCTTTGCTTGAAAAGTTTAGGGCTGCCCTTCCTCATTCGCTATCAGTCATGCTTATGGTCCCCTCACCAGACCCGGAGCCGCTGGGATCTTCCTGCGTTACAGACTGTCCTGGCGGTGTCTGCAAGTCGGTAACCCCCCGGGTTTCGATCCCTTCGCTCGCGTTTCTCTTCTAGTTCTCGGGAGCCGGGAGCCCCGGAGCCCAGTTCGCGAGAGGCAGCAGCGGCTGTAGCCAAGCACACCCGCCGGCCAGATTTCTGTCCCGATCGGGCTTCAACGACTCGCCCCGCCTCTATACTTTTCCGGAGGGGCAATAAAACAAATAATTTAAAAATAAATCTCCATGAAAACTCTGGAGAGCAGCCCGCCGCCTTTCCACCGTGGGTCAAAGTTCCCCGAGAGGTTAGAAAGAAGAGAAAGTAGTTTCTTCGGGTTGTGGGCGCCAATCCCCTGGCCAGGCTCTGCGGCTCCCTCCCCTGCCTCCAGCGCCCGGCGAGGAGGTGGCGAGGCCCGCGGCGCCAGGGCGGCTGCGGAGCCGGCCGAGGTCAGGAGCCTGGGGACTGGCTCCTCTGCGACAGCGGCTGGTTGGGTGCCGCACCGGTGGAGACCCGGCGTTCCGGGCCGGGCAGCTGAGCAGGCGTTCCC
AATAAACAGAGAGCAGCGCCAGCAGCCTGGGGATGTGATCATAATTATGCCGCCGCGCGAGCCAATGGGGACGAGGGAACTCGGTCCTAAAATCATCCCAAAACCGAAGGCGAGCTCGAAAATGCGGACACGGCCCGGGACCGGAGATGCGATCCGTAGTCGTTAGTTGCACTGGGTTTGCACAGCAACCACCACCCCCCCACCAACCCCGGGACAACAGATGGCATAATAATAATAATAGAAATAATAATAATAAAATAATATCATCTATAATAATAATAACATTGACCACACTGACAAAAATAATTACGACGGAACCTTAATAGTACAGTAGCACCATATCGGGCTCTCCCCTGACCTTGGACTGCCGGTCCCAGATATTCCAGAAGGAATTGTTTTGGGGAAGGAGGTGAGCACCCTCCCAGACAGAAAACGCTAGAGACCGTGGGGCGAGAGAGGGAGAGAGTTGGAAGCCCACTGCTCCGGCGGGGTCGGCAGCTCCCGGTCTCAACTCGCAAACGAACGAGCCGGGTCAAGAATCGCGAACGCACCGACCCTGGGACCTCGAGGCTAAGCGTGGTTGATGGGGTGGGAGGACCCCGTACCCCTCACTCCAGGATCCCTCCTGGCCTAGGAAACCGCTGGGAGTTTTGCTAAGTGTGGGGATTGGTATAACCGAACGGCGCCTTTAGCCCGGGAACCAGCCCCTGCCCGCTTACCCTCGCGGTGCTCTTGGGGCGATCCCAGTTCTCCCGACGCGGGGCCGCGTAAGGCAGCAGCGGCGGAGCGCTAGGCTAGAGGAATCTGTCTGTCCTTCTGTCCTACCAGCTTGGGCGAGGCAGGCTCGGGATTCAGGGGGCCGCAGCGGAGGCGGCGCCGGCCAGGGACTCTGCAGGGACCGGGGTGCCCCGGAGGGAGTGGTGCTGGTGGAGGAGGAGGCGGTGGCTGAGGGGGAGTAGGTGGGGAAAGAGGAGGAGGAAGAAGAGGAGGAGGAGGAAGAAGAGGAGGAGGAGGAGAAGAAGAAACTGGAGGAAGAGGAGGAGGCGAAGGAGGAGGAGAAGCCGCAGCGGGCGCCGCAGGAGCGAGTGAGCTGGGAGCGAGGGGCGAAGGCGCGGAGAAGCCCGGCCGCCCGGTGGGCGGCAGAAGGCTCAGCCGAGGCGGCGGCGCCGACTCCGTTCCACTCTCGGCCCGGATCCAGGCCTCCGGGTTCCCAGGCGCTCACCTCCCTCTGACGCACTTTAAAGAGTCTCCCCCCTTCCACCTCAGGGCGAGTAATAGCGACCAATCATCAAGCCATTTACCAGGCTTCGGAGGAAGCTGTTTATGTGATCCCCGCACTAATTAGGCTCATGAACTAACAAATCGTTTGCACAACTTGTGAAGAAGCGAACACTTCCATGGATTGTCCTTGGACTTAGGGCGCCCTGCCCGCCTTTTGCAGAGGAGAAAAAACTTTTTTTTTTTTTTGCCTCCCCCGAGAACTTTCCCCCCTTCTCCTCCCTGCCTCTAACTCCGATCCCCCCACGCCATCTCGCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAAAAAGAAAAAAAATTACCCCAATCCACGCCTGCAAATTCTTCTGGAAGGATTTTCCCCCCTCTCTTCAGGTTGGGCGCGTTTGGTGCAAGATTCTCGGGATCCTCGGCTTTGCCTCTCCCTCTCCCTCCCCCCTCCTTTCCTTTTTCCTTTCCTTTCCTTTCTTTCTTCCTTTCCTTCCCCCCACCCCCACCCCCACCCCAAACAAACGAGTCCCCAATTCTCGTCCGTCCTCGCCGCGGGCAGCGGGCGGCGGAGGCAGCGTGCGGCGGTCGCCAGGAGCTGGGAGCCCAGGGCGCCCGCTCCTCGGCGCAGCATGTTCCAGCCGGCGCCCAAGCGCTGCTTCACCATCGAGTCGCTGGTGGCCAAGGACAGTCCCCTGCCCGCCTCGCGCTCCGAGGACCCCATCCGTCCCGCGGCACTCAGCTACGCTAACTCCAGCCCCATAAATCCGTTCCTCAACGGCTTCCACTCGGCCGCCGCCGCCGGTAGGGGCGTCTACTCCAACCCGGACTTGGTGTTCGCCGAGGCGGTCTCGCACCCGCCCAACCCCGCCGTGCCAGTGCACCCGGTGCCGCCGCCGCACGCCCTGGCCGCCCACCCCCTACCCTCCTCGCACTCGCCACACCCCCTATTCGCCTCGCAGCAGCGGGATCCGTCCACCTTCTACCCCTGGCTCATCCACCGCTACCGATATCTGGGTCATCGCTTCCAAGGTACGTGCCACGTCGCGGAACTGCAGCGCGCCGCTCCCGCCGCATCCTTCACTGCCCCCGGCCTGCTCCGGGTGGGCGCTTGGCAAGGCCTGGGCGGAGGTTCCTCCGGCTCGCGGGCCAGCGCGCCCTGTTGGGAAACTAGGCGGCGCGGGGCCGGGCGTGGTGTCGATCCCCAGTCTCCGAAGCTACGACTGGTTTGGAGTGATGGCCTGCGGGCCGCTTGACCCTTTGGGAAGGGGTGCGAACGGAGAAGTTGTCCCCCAGTGCGCTCGAATCAGAGCAGGCTGGGCTGTGCGTGCCCGGCGCCGCGGAGCCCAGAGCCCGCGGGATCCCCAGGCTCCTGGTACCCTCGGCAATGCCCCCAACCGTCCTGGCTCCGAGGGGCGCGGACAGGACTCGGCCGCCAGGCTTGCTTTCGACTGCGTTCGACCCTGTTCACCACCCACTTTGCGCCCCTTCAGTCCAGACCCGCGGCTTCTTAGTCTTCCACCCTCTTCTGGAGGCGAGAGGATCCTCGCGCCCCGGGAGAAAAGTATGGGATTTGTTTTTTCTTTCCTGCTTTTCGGAGGCCTGGGGAGGGGCGGGAACCCGTGCGGGAGGAAAGCTCCAGGGCTTGGCGCTCTCGCCGCGACCTGCTTAATTGGGGCGCCGAGCAGCCACAGCGGGAAGGCAGGTTCGGTCTGGTTTTTGTTTTTCTTTCTTTCTTTAAAAAAAAAAAAAAAGAACCTGGTCAGGAAACTGTCTTAGAGGGAAATATCTGTTCGTGTGTTTTCATTTCTTGCGATATTTTTTATTTGTTTGTTTTTCTCTGGGTACGGGGTGGGAGGAGGAGAGTTAAAACTTCAGAAAAAGGAGTAATTAGTTTACGGATTGGAGTCAGTAAAAGACCTACCTCCGGCGGCAGCCGATCAATACTCCGCGGCTTGTCCATTCATTAACCCATTGCGTTCCTGCCGGAGCCTAGAATCGGGTAGATGTCACCCCCCTCCCCATATTTTAAAAAATCAAACCAAAGGAAAAAAAACCCAAAAAGCCTTTTACCCTTAATCCCGAACTGGATTTGCCTGCATCCTGCCTGGACTGTCGGCTTGTTTTTCTTTGTTTGGGTTTTCGGTGAATCGATTTCCTATGCTAATGAGTGAACCCAAAACTCTGAGGCTTTGCTTGAAAAGTTTAGGGCTGCCCTTCCTCATTCGCTATCAGTCATGCTTATGGTCCCCTCACCAGACCCGGAGCCGCTGGGATCTTCCTGCGTTACAGACTGTCCTGGCGGTGTCTGCAAGTCGGTAACCCCCCGGGTTTCGATCCCTTCGCTCGCGTTTCTCTTCTAGTTCTCGGGAGCCGGGAGCCCCGGAGCCCAGTTCGCGAGAGGCAGCAGCGGCTGTAGCCAAGCACACCCGCCGGCCAGATTTCTGTCCCGATCGGGCTTCAACGACTCGCCCCGCCTCTATACTTTTCCGGAGGGGCAATAAAACAAATAATTTAAAAATAAATCTCCATGAAAACTCTGGAGAGCAGCCCGCCGCCTTTCCACCGTGGGTCAAAGTTCCCCGAGAGGTTAGAAAGAAGAGAAAGTAGTTTCTTCGGGTTGTGGGCGCCAATCCCCTGGCCAGGCTCTGCGGCTCCCTCCCCTGCCTCCAGCGCCCGGCGAGGAGGTGGCGAGGCCCGCGGCGCCAGGGCGGCTGCGGAGCCGGCCGAGGTCAGGAGCCTGGGGACTGGCTCCTCTGCGACAGCGGCTGGTTGGGTGCCGCACCGGTGGAGACCCGGCGTTCCGGGCCGGGCAGCTGAGCAGGCGTTCCCNNNNNN
benign
168,529
The chromosome 10, position 119030300 genetic variant in gene NANOS1 (nanos C2HC-type zinc finger 1): benign or pathogenic? If pathogenic, indicate disease(s).
benign
GTGAGACCCTGTCTCAAGAAAAAAAAAAAAGAAAAAAGAAAAATCAAGAAGAAAAAAGAAAGAGTGAGAAAGAAAGAAAGAGGCCAGACGCGGTGGCTCACGCCTGTAACACCAACACTTTGGGAGGCCAAGGCAGGCGGATCGCGAGGTCTGGAGTTCAAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCCCGGCATGGTGGCGGGCATCTGTAATCCCAGCTGCTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGATGCGGAAAGAAAAGAAAAAAAAAGAAAGAAAAGGAAGGAGGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGACAAAATATAACATTGAATACACGTTGTTTTTCAAACTGCACATACAACCCACATTTTGACTCAGGCCTCTGGGGCGAGGGGGTACACACACACACACACATCCCAGTCACTGTCCTAGGCTCTCCAGCCATGAGATTTTCCGGCCCAGCCCCAACCCCGACCTAAGTAACCGGCTATCGGCCACCCATTGGCTGAAGTCCCTGAGCACCTGTTGGGAGGAAGGCTGCTGCGTGCAGCCGGAAAGTCCTGCGTCCCTCCGCTCTTACCGCGGCAGGAACCACAGCCTCCCCGAACCTCAGGGTTTGTATGGATTTCGCCCAGGGGAAAGCGCTCCAACGCGCGGTGCAAACGGAAGCCACTGGCTGGTTGGGCGGCTGTGATGGGAGAGCTGCATCCTTCCAACGCGTCCAGCTTTTCATGCTGATGTTGGTGAGAAGGGGGTGGATAGCGGGGATTCTCAGGATTAGGGCCTAGGGCCATTAAAGGCTGGGAGGTGGGGGCGTAAACCTGTGGCCACCCTGACCCCTGTCCTCGGGGGGCCTCACCACCAGGCCGAGGAGACCCAGGCCTGGTCACCTGCTCCAAGCCCAGGCCCGGCGCTCGAATGCGGGCCCCAGCGGCCCTCCCTTCCCGGCCCTTCTCTCCCCTACTTTCTCCTCACCTCCCAGCTGCGCGGAGAACACGCCCCCTCCCCGTGTTCCCACCAATCAGCGTCCGGAGCGGCGCCCGAGGCGCCGGGGGGCTCTGGTCTGCAGCCAATGAGCGCCACGGCTCGAGGCGGCGCCTCGCCCGCCCCCTCCCGGAATGAAGGCCGCCCGACAGCTGGCGAGGCTGGCGCAGCGCGCGGGGCGCGGGAGCCGCGCGGGCTGGAGCGGAGCGCGCACACAGCCAGCCCGCCTCCGCTCCGCCTCCGTCCGGGGCGCGGGCGAGGTGGCCGGGGCGGGGGAACGCAGGGGGCAGGGCCGCGGCGGCGAGGCCGGGGGGCGGGGAGGAGTGGGCCCGATAAAAGGCGGCGCGGCGGCCCCACCCCGCGGCAGGCCGGCGGGCAGGCTCGGCGTGTCCCTTCCGTCCGGCCCGCGCCGGCGGCGGGGAGGCGGCGCGCGGCCCGCAGCCCGCCCATGGAGGCTTTCCCCTGGGCGCCCCGCTCGCCCCGCCGCGGCCGCGCCCCCCCGCCCATGGCGCTCGTGCCCAGCGCCCGCTACGTGAGCGCCCCGGGCCCGGCGCACCCGCAGCCCTTCAGCTCCTGGAACGACTACCTGGGGCTCGCCACGCTCATCACCAAAGCGGTGGACGGCGAGCCGCGCTTCGGCTGCGCCCGCGGTGGGAACGGCGGCGGCGGCTCCCCGCCCTCCTCCTCCTCGTCGTCCTGCTGCTCCCCCCACACGGGGGCCGGGCCTGGGGCGCTGGGGCCGGCGCTGGGGCCGCCCGACTACGACGAGGACGACGACGACGACAGCGACGAGCCGGGGTCCCGGGGCCGCTACCTGGGGAGCGCGCTGGAATTGCGCGCGCTGGAGCTGTGCGCGGGCCCCGCCGAGGCCGGGCTGCTGGAGGAGCGCTTCGCCGAGCTGAGCCCGTTCGCGGGTCGTGCCGCCGCCGTGCTGCTGGGCTGCGCGCCCGCCGCCGCCGCCGCCGCCACCACCACCAGCGAGGCGACGCCGCGCGAGGAGCGGGCCCCGGCGTGGGCGGCCGAGCCCCGGCTGCACGCGGCCTCCGGGGCGGCGGCCGCCCGGCTGCTGAAGCCCGAGCTGCAGGTGTGCGTGTTCTGCCGGAACAACAAGGAGGCGATGGCGCTCTACACCACCCATATCCTCAAGGGCCCCGACGGGCGAGTGCTGTGTCCCGTGCTGCGCCGCTACACGTGTCCCCTGTGCGGCGCCAGCGGCGACAACGCGCACACCATCAAGTACTGCCCGCTCTCCAAAGTGCCGCCGCCGCCCGCCCGCCCGCCGCCCCGCAGCGCCAGGGACGGCCCGCCTGGCAAGAAGCTGCGCTGAAGGCCCGGGCTCCCGGCCGCCCAGGGTCGCCGCCGCCCCTCGCACCGCTAGGTCTGCGCACCATCTCGCCCCCGCCGTGGGGAGGCGTGCGGCTCAGCGGTCGGCTCGACATGGGACGTCGTCCTGGTGGTTTTTGAAAAGCAGCCGACCGTGTGGAGTACTTCCGTGCTGAACGATTGGGACTAGACGCTGAAATCCCCATTTGTCTTCAGTTTCTAGTTTGCACATCCAGAACGGCGAAGGCTGGGTGTGTATTCCACTAACTGAAATATGGCAACTTAGAGGCGCTGTTTATTTACTGTATACGTCGACCTATTTTAGATGCGCATCAGTATGAAATTGTCTCAATCTTGGATGTTTCATTTTATGAATGGAGGCACTTTACTAGGTCTAGAATATTTTTTTAAAAGCCTCTGAACTGAGCTTAAAACTGGCGATTTTATGAAATGTCGGCAAAATGACTATTTTATTGTTTGAAGCGAGTTAATATTCTCAGTTGTCTTTAAAAATCAGTTACTCTAATTCCAGGTGAAGCAAGCCGCTGGTAGCATCACCCTTATGAGAAGTGAAGGTTTTGTAAACTTTCCAGTATTAATTTGGGCGGGTATTCCCCGCTTGTGGCTTGTTTCTGTCCTAGCTGGAGGTGTAAAATGCACAATGTGTAGCAGGTAGAATACAGCTCCTTATCGTTCTATGTACCAGGTATTTTATTACTGAACTAGCAACTAGCCTTTTCCACCTTTAAAAGTTGTGCCAAGTCATAATCATATTGTGTATAACTTGGAAATGGTGCTGTTTAAAAAAATTGTGTATTTATACAGTAACAGTATGAATTCATTAATCTCACCTGTAACTTTCCTACTTGGCATTTTCTCTACACACTCACCCTCTTCCAGTTCTTTAAAAACGTTTATGATATTAAGATCAAAGGGAGGAAGGGAAGACAGCAGTATTAATTCACCCTAGATTACTCAATTTCAGGGTTCCTAGTGGAGGAAAGCCCATTCCAGCTGTTGCCTGTCAAACAAATAGAAGATGGATCTCTAGCTCTGAGCTATTCGTGTATTAACTCGTATTCAAGAAGGTTCCACCGTGGGCTGCGTCTGACTTTAATACAGGCAGTGCTCAAACTAGAATAAGCACTAATTAAAGGAATTGTTGGGGGTCCTTCATGTGTTCCCACTCCTACTGGAAGACCCATGTCGGTTTCCGGAACCCCACCAGTTTACCCATAAGCAAGACTAAACCTGATCCTTGGGCAAAAGTTCCTAACCCCTACTTTACCCTCCCACCCTCACTTTTAAATCCACCATACTGAATGCCACACTATGGAATGCAGCTACCTGCCAAGCAAGGCAATAGAAGGCAAAAAATGGAAGTGAATTAAGATGAACTCATCTGAAATACACAAATGCATTACTATCTGAAGATACCAGCAAGAGTTTAGTCTACGTGTATAAGGCTCCCAGTAGGATTTAGCTAGGCTACTAGAAGTTAGACTGCTTTCGCATTAAACAGCTAACTTCATCCACAGCAAATTGACTCAATCAGGAACCTTCATTTGAAGGTGTGTTAGAGGATGGGGTAAATACCCGATAGCTGTCTTTTTGGTGAAAGAAAAGGTGCATTTCAAGAACTTGGGGGGCAGGAGGAAAGCACAATGTTTC
GTGAGACCCTGTCTCAAGAAAAAAAAAAAAGAAAAAAGAAAAATCAAGAAGAAAAAAGAAAGAGTGAGAAAGAAAGAAAGAGGCCAGACGCGGTGGCTCACGCCTGTAACACCAACACTTTGGGAGGCCAAGGCAGGCGGATCGCGAGGTCTGGAGTTCAAGACAAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAATACAAAAAATTAGCCCGGCATGGTGGCGGGCATCTGTAATCCCAGCTGCTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGATGCGGAAAGAAAAGAAAAAAAAAGAAAGAAAAGGAAGGAGGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGACAAAATATAACATTGAATACACGTTGTTTTTCAAACTGCACATACAACCCACATTTTGACTCAGGCCTCTGGGGCGAGGGGGTACACACACACACACACATCCCAGTCACTGTCCTAGGCTCTCCAGCCATGAGATTTTCCGGCCCAGCCCCAACCCCGACCTAAGTAACCGGCTATCGGCCACCCATTGGCTGAAGTCCCTGAGCACCTGTTGGGAGGAAGGCTGCTGCGTGCAGCCGGAAAGTCCTGCGTCCCTCCGCTCTTACCGCGGCAGGAACCACAGCCTCCCCGAACCTCAGGGTTTGTATGGATTTCGCCCAGGGGAAAGCGCTCCAACGCGCGGTGCAAACGGAAGCCACTGGCTGGTTGGGCGGCTGTGATGGGAGAGCTGCATCCTTCCAACGCGTCCAGCTTTTCATGCTGATGTTGGTGAGAAGGGGGTGGATAGCGGGGATTCTCAGGATTAGGGCCTAGGGCCATTAAAGGCTGGGAGGTGGGGGCGTAAACCTGTGGCCACCCTGACCCCTGTCCTCGGGGGGCCTCACCACCAGGCCGAGGAGACCCAGGCCTGGTCACCTGCTCCAAGCCCAGGCCCGGCGCTCGAATGCGGGCCCCAGCGGCCCTCCCTTCCCGGCCCTTCTCTCCCCTACTTTCTCCTCACCTCCCAGCTGCGCGGAGAACACGCCCCCTCCCCGTGTTCCCACCAATCAGCGTCCGGAGCGGCGCCCGAGGCGCCGGGGGGCTCTGGTCTGCAGCCAATGAGCGCCACGGCTCGAGGCGGCGCCTCGCCCGCCCCCTCCCGGAATGAAGGCCGCCCGACAGCTGGCGAGGCTGGCGCAGCGCGCGGGGCGCGGGAGCCGCGCGGGCTGGAGCGGAGCGCGCACACAGCCAGCCCGCCTCCGCTCCGCCTCCGTCCGGGGCGCGGGCGAGGTGGCCGGGGCGGGGGAACGCAGGGGGCAGGGCCGCGGCGGCGAGGCCGGGGGGCGGGGAGGAGTGGGCCCGATAAAAGGCGGCGCGGCGGCCCCACCCCGCGGCAGGCCGGCGGGCAGGCTCGGCGTGTCCCTTCCGTCCGGCCCGCGCCGGCGGCGGGGAGGCGGCGCGCGGCCCGCAGCCCGCCCATGGAGGCTTTCCCCTGGGCGCCCCGCTCGCCCCGCCGCGGCCGCGCCCCCCCGCCCATGGCGCTCGTGCCCAGCGCCCGCTACGTGAGCGCCCCGGGCCCGGCGCACCCGCAGCCCTTCAGCTCCTGGAACGACTACCTGGGGCTCGCCACGCTCATCACCAAAGCGGTGGACGGCGAGCCGCGCTTCGGCTGCGCCCGCGGTGGGAACGGCGGCGGCGGCTCCCCGCCCTCCTCCTCCTCGTCGTCCTGCTGCTCCCCCCACACGGGGGCCGGGCCTGGGGCGCTGGGGCCGGCGCTGGGGCCGCCCGACTACGACGAGGACGACGACGACGACAGCGACGAGCCGGGGTCCCGGGGCCGCTACCTGGGGAGCGCGCTGGAATTGCGCGCGCTGGAGCTGTGCGCGGGCCCCGCCGAGGCCGGGCTGCTGGAGGAGCGCTTCGCCGAGCTGAGCCCGTTCGCGGGTCGTGCCGCCGCCGTGCTGCTGGGCTGCGCGCCCGCCGCCGCCGCCGCCGCCGCCGCCACCACCACCAGCGAGGCGACGCCGCGCGAGGAGCGGGCCCCGGCGTGGGCGGCCGAGCCCCGGCTGCACGCGGCCTCCGGGGCGGCGGCCGCCCGGCTGCTGAAGCCCGAGCTGCAGGTGTGCGTGTTCTGCCGGAACAACAAGGAGGCGATGGCGCTCTACACCACCCATATCCTCAAGGGCCCCGACGGGCGAGTGCTGTGTCCCGTGCTGCGCCGCTACACGTGTCCCCTGTGCGGCGCCAGCGGCGACAACGCGCACACCATCAAGTACTGCCCGCTCTCCAAAGTGCCGCCGCCGCCCGCCCGCCCGCCGCCCCGCAGCGCCAGGGACGGCCCGCCTGGCAAGAAGCTGCGCTGAAGGCCCGGGCTCCCGGCCGCCCAGGGTCGCCGCCGCCCCTCGCACCGCTAGGTCTGCGCACCATCTCGCCCCCGCCGTGGGGAGGCGTGCGGCTCAGCGGTCGGCTCGACATGGGACGTCGTCCTGGTGGTTTTTGAAAAGCAGCCGACCGTGTGGAGTACTTCCGTGCTGAACGATTGGGACTAGACGCTGAAATCCCCATTTGTCTTCAGTTTCTAGTTTGCACATCCAGAACGGCGAAGGCTGGGTGTGTATTCCACTAACTGAAATATGGCAACTTAGAGGCGCTGTTTATTTACTGTATACGTCGACCTATTTTAGATGCGCATCAGTATGAAATTGTCTCAATCTTGGATGTTTCATTTTATGAATGGAGGCACTTTACTAGGTCTAGAATATTTTTTTAAAAGCCTCTGAACTGAGCTTAAAACTGGCGATTTTATGAAATGTCGGCAAAATGACTATTTTATTGTTTGAAGCGAGTTAATATTCTCAGTTGTCTTTAAAAATCAGTTACTCTAATTCCAGGTGAAGCAAGCCGCTGGTAGCATCACCCTTATGAGAAGTGAAGGTTTTGTAAACTTTCCAGTATTAATTTGGGCGGGTATTCCCCGCTTGTGGCTTGTTTCTGTCCTAGCTGGAGGTGTAAAATGCACAATGTGTAGCAGGTAGAATACAGCTCCTTATCGTTCTATGTACCAGGTATTTTATTACTGAACTAGCAACTAGCCTTTTCCACCTTTAAAAGTTGTGCCAAGTCATAATCATATTGTGTATAACTTGGAAATGGTGCTGTTTAAAAAAATTGTGTATTTATACAGTAACAGTATGAATTCATTAATCTCACCTGTAACTTTCCTACTTGGCATTTTCTCTACACACTCACCCTCTTCCAGTTCTTTAAAAACGTTTATGATATTAAGATCAAAGGGAGGAAGGGAAGACAGCAGTATTAATTCACCCTAGATTACTCAATTTCAGGGTTCCTAGTGGAGGAAAGCCCATTCCAGCTGTTGCCTGTCAAACAAATAGAAGATGGATCTCTAGCTCTGAGCTATTCGTGTATTAACTCGTATTCAAGAAGGTTCCACCGTGGGCTGCGTCTGACTTTAATACAGGCAGTGCTCAAACTAGAATAAGCACTAATTAAAGGAATTGTTGGGGGTCCTTCATGTGTTCCCACTCCTACTGGAAGACCCATGTCGGTTTCCGGAACCCCACCAGTTTACCCATAAGCAAGACTAAACCTGATCCTTGGGCAAAAGTTCCTAACCCCTACTTTACCCTCCCACCCTCACTTTTAAATCCACCATACTGAATGCCACACTATGGAATGCAGCTACCTGCCAAGCAAGGCAATAGAAGGCAAAAAATGGAAGTGAATTAAGATGAACTCATCTGAAATACACAAATGCATTACTATCTGAAGATACCAGCAAGAGTTTAGTCTACGTGTATAAGGCTCCCAGTAGGATTTAGCTAGGCTACTAGAAGTTAGACTGCTTTCGCATTAAACAGCTAACTTCATCCACAGCAAATTGACTCAATCAGGAACCTTCATTTGAAGGTGTGTTAGAGGATGGGGTAAATACCCGATAGCTGTCTTTTTGGTGAAAGAAAAGGTGCATTTCAAGAACTTGGGGGGCAGGAGGAAAGCACAA
benign
168,537
Does the genetic variant at chromosome 10, position 119146241, impacting gene SFXN4 (sideroflexin 4), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Growth_and_developmental_delay-hypotonia-vision_impairment-lactic_acidosis_syndrome']
ACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGAGAGGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCGTCTCAAAAAAAAAAAATTGCTAATATCTGCTAGCATCAGTAATGTCTTTGACATCTGCTAGCAATTTATGGCAGAGCTTTGGAAATTAAAAAAATTGGCTTTCTGACTTAAAAAAAAAAAAATGTCCTTGCTACCTACTAAGCAACAACCCTTTGCAGAGATGCCATTATCTTCAGCTCTCTTTAACAGATAAGAAAACTAAGCAAGTTGACCAAGGTCATGGAGAAGCTGGAATCTGAGTCCAAGCAGCCTGACTCATCATAAATTATATTATAAATTATCTATAGAACTGGGCTGTCCAATAGCCACTAAGCACACAAGAGTACCTAATTTAAAATTTAACTTAATTTACAATTCAGTTCCCTAGTCACACCAGCCTCTCCTGAAGTGCTCAGTAGCACACGTAGCTCATGGCTACCATAATTGGACAGCACCAATCTATTATAGAACATTTCCATCACTGCAGAAAGTTCCACTGGAGAGGGCGTAGTTATAGAACATTTTGGAGTATTTAAAATTTCTCTAAGTAATTTTAAAAGATTTCTTTTTATGCCCCAGAAAAAAAGGCTTATGAAATATTGTTAAGAAAAACAGAACCCAAAACTGCACCAAGAGATTTGAGGGATAGAATTAAATATAAATATCATTACAATTAACCCTTGAATAATGCAGGTTTGAACAATGCAGGTCCACTTATATACTGTTTCCCCCTCAGTCACCCCTGAGACAGCAAGACCAATCCCTCTTCCTCCTCCGCAGCCTACTCAATATGAAGATGACGAGGATGAAGACTTTGATCCTCACTGAAACTGATGACTCACCTTCACTTAATAAACAGTAAATATATTTTTTCTTATGATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGTCATGATCTTGGCTCATTGCAACCTCTACCTCCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGCTACCGTGGCTAATTTTTGTATTTTTAGTAGAGCTGGAGTTTTGCCACGTTGGCCAAGCTGCTCTTGAATTCCTGATCTCAAGTTATCTGCCCGCCTCAGCGTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGCGCCTGGCCTGATTTTCTTAATAACGTTCTATTTTCTCTAGTTTATTGTAGGAATACAGTATACAACACATATAAAATATAAAATATGTGTTACTTGACTTTTTATGGTATTGGTAAGCCTTCCGGTCAACAGTAAGCTATTAATGGTTAAGTTTTCAGGGAGTCAAAGGTTATACTTGGATTTTTGACTACTAACCCCCAGGTTGTTCAAAAGCCAATTGTATTTTGTTTTATTATTTTATTTTTTTGAAATAGGGTCTCACTCTCAGCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCAATCTCCTGGGCCCAGGTGATCCTCCCACCTCAGTCTCCTGCGCAGCTGGGACAACAGGTGTGCATCATCACACCCAGCTAATTTGTGTATTATTTTTTGTAGAGATGGGGTCTCACTATGTTGCCTAGGCAGGTCTTGAACTCCTGGGCTCAAGCAATCTTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGTCTTATTTTATATTTTTATAAACTTTGCAGAGTTTTAAGAAGAATAACTTATTTTATTCTTCTAACTGCAAAATAAAAAACTTTGAGAGAAAAGAGGAATGGGGGCACTTACCTGTCCAATCTGTGGAAATATACTAAAAGAAAATGGCACCATCAGTCCCATTGCCAGGACAGTACAAGACAGTTTCAAAATCCACAATGACCCTGGGTTTTTCCTGAAATACTGGGTCCTGTAAGAGACAAGGCATGGCTCACAAGTGATGTTAAACTATCAGGGCTTATTTTCTGAACAGCTGAATCAGGGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCACGTGTGTGTGTACCTGAACACCTGGATCAGGGCCTGTTCTTTTTTCTTTTTGTTGTACCTGAACAGCTAGATCAAGGCCTGTTTTTTTGTTGTTTTTGTTTGTTTGTTTTGTGTTTTTTTCTTTTGAGAGAATCTTCCTCTGTCGCCCAGGCTGGAGTGTAATGGTGCCATCTTGGTTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCTTGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTCACCATGTTGGCCAGGATGGTCTAGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCATCCCATCCCTCCTTCTTGGAAATGTGCTCCATGTGTGGTCCTAGCAGGCGATTCCCAGCCTCGCCACACTGGTGGGGGGGATGTGCACCCCAGGCATGCGACCTAACTCAGGCCCACAGAATCCTTCCCCAGGAGTCTGCCCTGAGGGGAAGACATTCCTGCCTCCCCTGGGGTTTGCTGTGTTCCACCTCTGATCAGGAGGCTGTGAGGCTATGAGCTGGGAGTTACTAGCAAGTGGGTCCCGCATCAATATGAAGAAGCCAATCTGGCAGGAGAGAAGGACTCGACACCCACGAGAATGACAGGGAGGCGCGCCCAGCAGGGGAGCTTCTGTTCAAGCTGCCATGGACTGCAATCCTTGCCCGTTCCGGCCCTAAAGCCCCAACGTCTCCCCTCGGGTCTGAGCTCCTGCAGGTTAGGTTTCTCATACTGGTGGCCACAGGAACCCTGATGGATGCCCAGGTCCTCCGCCTCGTAGGCCATTTCTGGCTTCTTAAAAGGGATGGATCTGAATTCGGAGTCGCTGAAGCTCATTTAAAACATACTTGGAATGGGGGTTTAGAGAGGAGGGCTTGAGCAATATTCACAGCACATGAGAGCCAGGGGAACCTGCAAATCATCCAAGCCCCTCATTCTAGAGGTGAGGAAATGGCCGTGGAAGGTCCTTCGACACGCCAAGGACACGGGGTAACTGGAGGCAGAGCCTGGGCTGGATTCCCCATTCGGTGGAATCCGTACACCCGGATTTCCACGCCTGCCACAATCAATCCGCCTGTCTTAGCTGTGATGTGTGTTTATGGGAAGGTTACTGAGCCAACTTCTCCCCACCCTCCACCAGGGTCAGTATCTGACAGGTTTTATAAGGATTTGACTTTCAAATCCCTACCTGGGGATATGACCGTGTCTCTTACCTTTTAAAAAAGTAGGTGAAGACTTCAGGAATCAGAGCTGAGGTCCCAAACAGCACTATTCTGGATGCTAGCGTTTCTCTAACAGCCTAGCAAAAATGAAAAGAAAACAGCTTAGGTTGGGCACGGTGGCTCACGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGCGGGTAGATCGCTTGAGGTCAGTAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAAATACAAAAATTAGCCCGGTGTGGTGTTATGCACCTGTAGTACCAGCTACTTAGGAGACTGAGAAATGAGAATCACTTGAACCTGAGAGGCGGATTTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGATTGGGCGACGGAGTGAAACTCTGTCTCAAAAAAGAAACTTAGTACAGGAGCAAGACGATTTCCAGGGATCCCACAACTCCTGCGAGAGACAGGCAACAGTAACCCACCCTTCTCACTTAGAAAAAGAATGCCCGTGGAGAGAGG
ACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATTTCTACTAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCGAGAGGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAACGAGACTCCGTCTCAAAAAAAAAAAATTGCTAATATCTGCTAGCATCAGTAATGTCTTTGACATCTGCTAGCAATTTATGGCAGAGCTTTGGAAATTAAAAAAATTGGCTTTCTGACTTAAAAAAAAAAAAATGTCCTTGCTACCTACTAAGCAACAACCCTTTGCAGAGATGCCATTATCTTCAGCTCTCTTTAACAGATAAGAAAACTAAGCAAGTTGACCAAGGTCATGGAGAAGCTGGAATCTGAGTCCAAGCAGCCTGACTCATCATAAATTATATTATAAATTATCTATAGAACTGGGCTGTCCAATAGCCACTAAGCACACAAGAGTACCTAATTTAAAATTTAACTTAATTTACAATTCAGTTCCCTAGTCACACCAGCCTCTCCTGAAGTGCTCAGTAGCACACGTAGCTCATGGCTACCATAATTGGACAGCACCAATCTATTATAGAACATTTCCATCACTGCAGAAAGTTCCACTGGAGAGGGCGTAGTTATAGAACATTTTGGAGTATTTAAAATTTCTCTAAGTAATTTTAAAAGATTTCTTTTTATGCCCCAGAAAAAAAGGCTTATGAAATATTGTTAAGAAAAACAGAACCCAAAACTGCACCAAGAGATTTGAGGGATAGAATTAAATATAAATATCATTACAATTAACCCTTGAATAATGCAGGTTTGAACAATGCAGGTCCACTTATATACTGTTTCCCCCTCAGTCACCCCTGAGACAGCAAGACCAATCCCTCTTCCTCCTCCGCAGCCTACTCAATATGAAGATGACGAGGATGAAGACTTTGATCCTCACTGAAACTGATGACTCACCTTCACTTAATAAACAGTAAATATATTTTTTCTTATGATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGTCATGATCTTGGCTCATTGCAACCTCTACCTCCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGCTACCGTGGCTAATTTTTGTATTTTTAGTAGAGCTGGAGTTTTGCCACGTTGGCCAAGCTGCTCTTGAATTCCTGATCTCAAGTTATCTGCCCGCCTCAGCGTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCGCGCCTGGCCTGATTTTCTTAATAACGTTCTATTTTCTCTAGTTTATTGTAGGAATACAGTATACAACACATATAAAATATAAAATATGTGTTACTTGACTTTTTATGGTATTGGTAAGCCTTCCGGTCAACAGTAAGCTATTAATGGTTAAGTTTTCAGGGAGTCAAAGGTTATACTTGGATTTTTGACTACTAACCCCCAGGTTGTTCAAAAGCCAATTGTATTTTGTTTTATTATTTTATTTTTTTGAAATAGGGTCTCACTCTCAGCCAGGCTGGAGTGCAGTGGTGCAATCATGGCTCACTGCAGCCTCAATCTCCTGGGCCCAGGTGATCCTCCCACCTCAGTCTCCTGCGCAGCTGGGACAACAGGTGTGCATCATCACACCCAGCTAATTTGTGTATTATTTTTTGTAGAGATGGGGTCTCACTATGTTGCCTAGGCAGGTCTTGAACTCCTGGGCTCAAGCAATCTTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGTCTTATTTTATATTTTTATAAACTTTGCAGAGTTTTAAGAAGAATAACTTATTTTATTCTTCTAACTGCAAAATAAAAAACTTTGAGAGAAAAGAGGAATGGGGGCACTTACCTGTCCATCTGTGGAAATATACTAAAAGAAAATGGCACCATCAGTCCCATTGCCAGGACAGTACAAGACAGTTTCAAAATCCACAATGACCCTGGGTTTTTCCTGAAATACTGGGTCCTGTAAGAGACAAGGCATGGCTCACAAGTGATGTTAAACTATCAGGGCTTATTTTCTGAACAGCTGAATCAGGGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCACGTGTGTGTGTACCTGAACACCTGGATCAGGGCCTGTTCTTTTTTCTTTTTGTTGTACCTGAACAGCTAGATCAAGGCCTGTTTTTTTGTTGTTTTTGTTTGTTTGTTTTGTGTTTTTTTCTTTTGAGAGAATCTTCCTCTGTCGCCCAGGCTGGAGTGTAATGGTGCCATCTTGGTTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGCCCGCCACCACGCCTTGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTCACCATGTTGGCCAGGATGGTCTAGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCATCCCATCCCTCCTTCTTGGAAATGTGCTCCATGTGTGGTCCTAGCAGGCGATTCCCAGCCTCGCCACACTGGTGGGGGGGATGTGCACCCCAGGCATGCGACCTAACTCAGGCCCACAGAATCCTTCCCCAGGAGTCTGCCCTGAGGGGAAGACATTCCTGCCTCCCCTGGGGTTTGCTGTGTTCCACCTCTGATCAGGAGGCTGTGAGGCTATGAGCTGGGAGTTACTAGCAAGTGGGTCCCGCATCAATATGAAGAAGCCAATCTGGCAGGAGAGAAGGACTCGACACCCACGAGAATGACAGGGAGGCGCGCCCAGCAGGGGAGCTTCTGTTCAAGCTGCCATGGACTGCAATCCTTGCCCGTTCCGGCCCTAAAGCCCCAACGTCTCCCCTCGGGTCTGAGCTCCTGCAGGTTAGGTTTCTCATACTGGTGGCCACAGGAACCCTGATGGATGCCCAGGTCCTCCGCCTCGTAGGCCATTTCTGGCTTCTTAAAAGGGATGGATCTGAATTCGGAGTCGCTGAAGCTCATTTAAAACATACTTGGAATGGGGGTTTAGAGAGGAGGGCTTGAGCAATATTCACAGCACATGAGAGCCAGGGGAACCTGCAAATCATCCAAGCCCCTCATTCTAGAGGTGAGGAAATGGCCGTGGAAGGTCCTTCGACACGCCAAGGACACGGGGTAACTGGAGGCAGAGCCTGGGCTGGATTCCCCATTCGGTGGAATCCGTACACCCGGATTTCCACGCCTGCCACAATCAATCCGCCTGTCTTAGCTGTGATGTGTGTTTATGGGAAGGTTACTGAGCCAACTTCTCCCCACCCTCCACCAGGGTCAGTATCTGACAGGTTTTATAAGGATTTGACTTTCAAATCCCTACCTGGGGATATGACCGTGTCTCTTACCTTTTAAAAAAGTAGGTGAAGACTTCAGGAATCAGAGCTGAGGTCCCAAACAGCACTATTCTGGATGCTAGCGTTTCTCTAACAGCCTAGCAAAAATGAAAAGAAAACAGCTTAGGTTGGGCACGGTGGCTCACGCCTGTAATCCCTGCACTTTGGGAGGCCGAGGCGGGTAGATCGCTTGAGGTCAGTAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAAATACAAAAATTAGCCCGGTGTGGTGTTATGCACCTGTAGTACCAGCTACTTAGGAGACTGAGAAATGAGAATCACTTGAACCTGAGAGGCGGATTTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGATTGGGCGACGGAGTGAAACTCTGTCTCAAAAAAGAAACTTAGTACAGGAGCAAGACGATTTCCAGGGATCCCACAACTCCTGCGAGAGACAGGCAACAGTAACCCACCCTTCTCACTTAGAAAAAGAATGCCCGTGGAGAGAGGN
pathogenic
168,548
Variant in gene BAG3 (BAG cochaperone 3), located at chromosome 10 position 119651741: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Cardiovascular_phenotype', 'Dilated_cardiomyopathy_1HH', 'Myofibrillar_myopathy_6']
AGAAAAGAACATGTTAAGAAAATCATAAGGAAGAGATTTTACATTTACATAAGGAAGAGTAGTACACTTACTACTCATTTAGTGGACGTGATCATCATAAACGTCATCATCCTCATTATCTTCACGTGGAGGCTGAGGAGGGGAAGGAAGAGGAAGGGTTGATTCTCCTGTCAAGGGGTGGCAGAGACAGAAGAGGTGGAGGAGGTGGAAGGGGAGACTGGAGAGGCAAGCACATCGGTGTAACTTTTATTGAAAAAAAATCCATGTACAAGTGGACCTGCTCAATTCAAACCCATGTTAAGGGTCAACTGTACAGTAATCTGAAGTATGTAACCTGATGTTACATTTCTCTCAATCATTTCTCTCTTTCTTTCTCTCTCTTTCTTTTAAAGAGATAGGGTCTTGCTCTGTCGCTTAGGTTGGCATGAAGAGCAAAATCATAGCTCATGGCAGCTTCAAACTCCTGGGCTCAAATGAGCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATAAGCCACTGCACCTGGCTTATTTTTTGTTTATGCAGAGATGGGGGTCTTACTGTGTTGTCCAGGCTGGTCTCAAACTCCTGGACTCAAGAGGTCCTCCAGTCTTGACTTTCCAAAGTGCTGGCATTATAGGCATGAGCCATGGTGGCAAGCCCTCATCAGTTATTTTTCTATGATTCTGTCTCTCTGTCCCCTCCTTACAAGGAAAGTAATTTTGAAACAACCAATCCAGTCTTGGTTCTTTGTTTCTGCTTTCTTCAGCCCTTCTCTGTCTATAAAACCAACCTCTTCTGCTCAGCTCATGGGAGCACTTATTCTAATTTAATGGAGATGTTGCCCAATTTCTAGAATCACAAATAAGATCTTTAACAATAAAAGTTAAAAAATGAAAATCAACAACAACAACAACAAAAAAGATCTTTAAATGTGTTGTAATTTTCTCCTTTGACAGGTTACAAGTGCAATTGAATAAACCAAACAAAAAATGTCATGGTTATTCGGTCTTTACTTCCCAAATCAGGGTCAAGATATAAGATAGCAAGAACCAATCTCTACCATAAAAAAGATCCAGACCCAAGAAAATGTGATTTATCTTTAAAGCTGCAACGAAACTTTCTTTTTAGTCTAGGAGACTAAAAGCCATCAGTTGATACAATCTCTTTTTTTCTTGAAGTTTCCAAAGGAAGGCAGGTGAGTTTGCACTGACTTCCATTTTCTCCCTGGCTTCCTTCCGGTGTCAGATGAGAGTCCCCGCGCTCCTCCCGGACAGCCCTCAGGGTCCTCGGCTATCATATATGGGGGAGGGGGTGGAGGTGGGCGAGATGGTTTTGTTTGTACAGGAAGGACGGGCGGCAGGCACGGGGAGCACGGGCTCCGGCCCCGGGAACACTCACTCGGCGCAAAGGAGAGGGAGAGAGCGACTATGAAAGCCGAAACCCGCCCGGGGCGCACGGAGGACGGCCCCAGTCCAGCTCGTCCGGCTTCCCACCCGCAGGCGGACCCCGAAGCCGCGCCCGCGCCCGCCCGCGGCGACTCCGGCCCGGGCACGCGCACGAGTCGGAAGGGGGAGGGGCGGGAGGAGGTGGGGGAGGGGCGAGCGGGCCGAGGCCCCGCCCCCGCTCCTCTGCCCCGCCCGCCGCGATTATAGCCGATGACTCAGGGCGGAGCTCCGCATCCAACCCCGGGCCGCGGCCAACTTCTCTGGACTGGACCAGAAGTTTCTAGCCGGCCAGTTGCTACCTCCCTTTATCTCCTCCTTCCCCTCTGGCAGCGAGGAGGCTATTTCCAGACACTTCCACCCCTCTCTGGCCACGTCACCCCCGCCTTTAATTCATAAAGGTGCCCGGCGCCGGCTTCCCGGACACGTCGGCGGCGGAGAGGGGCCCACGGCGGCGGCCCGGCCAGAGACTCGGCGCCCGGAGCCAGCGCCCCGCACCCGCGCCCCAGCGGGCAGACCCCAACCCAGCATGAGCGCCGCCACCCACTCGCCCATGATGCAGGTGGCGTCCGGCAACGGTGACCGCGACCCTTTGCCCCCCGGATGGGAGATCAAGATCGACCCGCAGACCGGCTGGCCCTTCTTCGTGGACCACAACAGCCGCACCACTACGTGGAACGACCCGCGCGTGCCCTCTGAGGGCCCCAAGGTGAGCCGGGCCCGCGGCCCGCCCTGGTCGGTGGCGCCACCTCGACGGCAGGCGGCGGGGAGTGGGCTGGGCCGGGGGGACGCGAGGCGGCGGGGCCCGGGGGTCGGCGAAGGCCCCTCGCGGGCGGACACCGGCTCCGCGCCCCGCCACACACTCCCGCTGCGCCCGGACGAGTCCCCGCTCCGGACCCGCCCTTGACAGGCGTCGGGGCGAAAGGAGGCCCCGGGATTCGGTGGCCCGGGAAGCGACCCCGCAGTGGCTCCGGTGCCGTCCACGGCTCGACTCCAGGGCGGAAGGCCGGGTGTCCAGCGCTGGCCTCGCGCTCTAGGGCTGGGAGAGGGGCGGCCGGCCTGGTCAGCTCCGGAGGCCCCGGCCCACCGTGGCCCCTGCTGCCCGCTCGGCCTCCGGGCCCGGGACCCGCGGCGCACCCTGCTGACCGCGGACTCGAGGGGGACACTCGCAAGCTTGGATGGTGGTTTTGGGGGGAATTTTACCGCTCAAGTTCTCCAACTTGGTTGAGGGGTATCTTGGCTACTGTCCCATGTTAGGCACCCAATGACTCTGGAGGCTGGTGTCAAAACATTCATATATATATGTGTGTGTGTGTATTTTAAATTAAAATTGTATTATTGTTTGAAAGTGCTTTCAATATGAACGTATCCTAGTATGATTTGTAAAATAAAAAACAGGGTGTGCTTCTCCCCAGCAGTTTCTAGAGATCTAGACTAGAGATCTGAGACTGTCTTACAGTTGGCCATTGCCTTACCACATTGCCTCACACTGGAGAGAAAGAGAATGATACGTGTATATTTATAATGGCATTCGCTTCCTGCCTTGTTATGGTATTAAAATACTTAGGATTTGTTACCAGTACACAAATAACTGACTAATGATACTCTTGTGAATACAGCAGAAGTATGTCTCATTTACATACATGCAAGGATATATACTTCTTAATCCCCAAGAGCATGAAATTTGAAAATGTAAATTTGGAATGAGTGTGTTAATTTTCAAAAATCAGAGTTAGTTATACTATTCTTTCAATTTTTTATAAATTTGAGCTTTCAGGATAAAAAGTTTTTAAAATAAATATGTTATACTTAAAGCTGAATTGTTAACGCCGTCTGGGCAAGATAAAAGCAGCAAAGAGCTGGTAAATTATTTTGAAGATTTAAAAACTCACCAAATTAAAACTGCTGTGTAACCCATTGTTTTAGAAGAAAGACCTGTATTATTTCCCTTCATCTTTATGCACTTTTTGTTTTAACAATATTGATAAAACTCCGGTGCCCAGCAGTGAGACCGTGTACAGGCAGCAGTTTACATTTACGAGAGATTAGTTGTATATTTATTCTTGAAAATTAGTACAAGAGGCTGTAATTAGCTGGGATGGGCACAGTTACATATACCTTTTTGTGTGTCTGTTCCACCCATTTTTGGGTGAAACTGACACTCATTTCAAACCACCTTTCTTAGGAGTCTGCGTGGATGTACATGATCTTTAGTGTGGTTTACAACTATTATTTTGAAGCCTTCTTCCTGTAGACATAGGGATAGTGGTATCTGTTGGCAGCCTTTGTTGTGAGTGAAGATCAAGTTTGAACATAAACATTCCCAGCACTTTGTTCTCAGCATGAAACTTACCCAGCAAGTTGAGATCTTCCTGTACCCACCTGGTGCATGGGTTAGGCTGTGATTTCATAAACCTTATTAAAAGAAAAAAAGCAGGTTTAGTTACCATTATTCTTGTCAGCAAATACAAAGAACTACTAAATCAGAAGTCTGATGCTGGGAAGATTTATTTGAAAATTTCACGGTCAAAATTTTAAAGTTGAAATGTCCTTGAAGATCTCTTATGTTAGGCTTCTTTATTTTCTGAAACCCAGAGAGTTCAGGTGTGACTTTGAAGGTCATCCAGCTAGTACCAACAACA
AGAAAAGAACATGTTAAGAAAATCATAAGGAAGAGATTTTACATTTACATAAGGAAGAGTAGTACACTTACTACTCATTTAGTGGACGTGATCATCATAAACGTCATCATCCTCATTATCTTCACGTGGAGGCTGAGGAGGGGAAGGAAGAGGAAGGGTTGATTCTCCTGTCAAGGGGTGGCAGAGACAGAAGAGGTGGAGGAGGTGGAAGGGGAGACTGGAGAGGCAAGCACATCGGTGTAACTTTTATTGAAAAAAAATCCATGTACAAGTGGACCTGCTCAATTCAAACCCATGTTAAGGGTCAACTGTACAGTAATCTGAAGTATGTAACCTGATGTTACATTTCTCTCAATCATTTCTCTCTTTCTTTCTCTCTCTTTCTTTTAAAGAGATAGGGTCTTGCTCTGTCGCTTAGGTTGGCATGAAGAGCAAAATCATAGCTCATGGCAGCTTCAAACTCCTGGGCTCAAATGAGCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATAAGCCACTGCACCTGGCTTATTTTTTGTTTATGCAGAGATGGGGGTCTTACTGTGTTGTCCAGGCTGGTCTCAAACTCCTGGACTCAAGAGGTCCTCCAGTCTTGACTTTCCAAAGTGCTGGCATTATAGGCATGAGCCATGGTGGCAAGCCCTCATCAGTTATTTTTCTATGATTCTGTCTCTCTGTCCCCTCCTTACAAGGAAAGTAATTTTGAAACAACCAATCCAGTCTTGGTTCTTTGTTTCTGCTTTCTTCAGCCCTTCTCTGTCTATAAAACCAACCTCTTCTGCTCAGCTCATGGGAGCACTTATTCTAATTTAATGGAGATGTTGCCCAATTTCTAGAATCACAAATAAGATCTTTAACAATAAAAGTTAAAAAATGAAAATCAACAACAACAACAACAAAAAAGATCTTTAAATGTGTTGTAATTTTCTCCTTTGACAGGTTACAAGTGCAATTGAATAAACCAAACAAAAAATGTCATGGTTATTCGGTCTTTACTTCCCAAATCAGGGTCAAGATATAAGATAGCAAGAACCAATCTCTACCATAAAAAAGATCCAGACCCAAGAAAATGTGATTTATCTTTAAAGCTGCAACGAAACTTTCTTTTTAGTCTAGGAGACTAAAAGCCATCAGTTGATACAATCTCTTTTTTTCTTGAAGTTTCCAAAGGAAGGCAGGTGAGTTTGCACTGACTTCCATTTTCTCCCTGGCTTCCTTCCGGTGTCAGATGAGAGTCCCCGCGCTCCTCCCGGACAGCCCTCAGGGTCCTCGGCTATCATATATGGGGGAGGGGGTGGAGGTGGGCGAGATGGTTTTGTTTGTACAGGAAGGACGGGCGGCAGGCACGGGGAGCACGGGCTCCGGCCCCGGGAACACTCACTCGGCGCAAAGGAGAGGGAGAGAGCGACTATGAAAGCCGAAACCCGCCCGGGGCGCACGGAGGACGGCCCCAGTCCAGCTCGTCCGGCTTCCCACCCGCAGGCGGACCCCGAAGCCGCGCCCGCGCCCGCCCGCGGCGACTCCGGCCCGGGCACGCGCACGAGTCGGAAGGGGGAGGGGCGGGAGGAGGTGGGGGAGGGGCGAGCGGGCCGAGGCCCCGCCCCCGCTCCTCTGCCCCGCCCGCCGCGATTATAGCCGATGACTCAGGGCGGAGCTCCGCATCCAACCCCGGGCCGCGGCCAACTTCTCTGGACTGGACCAGAAGTTTCTAGCCGGCCAGTTGCTACCTCCCTTTATCTCCTCCTTCCCCTCTGGCAGCGAGGAGGCTATTTCCAGACACTTCCACCCCTCTCTGGCCACGTCACCCCCGCCTTTAATTCATAAAGGTGCCCGGCGCCGGCTTCCCGGACACGTCGGCGGCGGAGAGGGGCCCACGGCGGCGGCCCGGCCAGAGACTCGGCGCCCGGAGCCAGCGCCCCGCACCCGCGCCCCAGCGGGCAGACCCCAACCCAGCATGAGCGCCGCCACCCACTCGCCCATGATGCAGGTGGCGTCCGGCAACGGTGACCGCGACCCTTTGCCCCCCCGGATGGGAGATCAAGATCGACCCGCAGACCGGCTGGCCCTTCTTCGTGGACCACAACAGCCGCACCACTACGTGGAACGACCCGCGCGTGCCCTCTGAGGGCCCCAAGGTGAGCCGGGCCCGCGGCCCGCCCTGGTCGGTGGCGCCACCTCGACGGCAGGCGGCGGGGAGTGGGCTGGGCCGGGGGGACGCGAGGCGGCGGGGCCCGGGGGTCGGCGAAGGCCCCTCGCGGGCGGACACCGGCTCCGCGCCCCGCCACACACTCCCGCTGCGCCCGGACGAGTCCCCGCTCCGGACCCGCCCTTGACAGGCGTCGGGGCGAAAGGAGGCCCCGGGATTCGGTGGCCCGGGAAGCGACCCCGCAGTGGCTCCGGTGCCGTCCACGGCTCGACTCCAGGGCGGAAGGCCGGGTGTCCAGCGCTGGCCTCGCGCTCTAGGGCTGGGAGAGGGGCGGCCGGCCTGGTCAGCTCCGGAGGCCCCGGCCCACCGTGGCCCCTGCTGCCCGCTCGGCCTCCGGGCCCGGGACCCGCGGCGCACCCTGCTGACCGCGGACTCGAGGGGGACACTCGCAAGCTTGGATGGTGGTTTTGGGGGGAATTTTACCGCTCAAGTTCTCCAACTTGGTTGAGGGGTATCTTGGCTACTGTCCCATGTTAGGCACCCAATGACTCTGGAGGCTGGTGTCAAAACATTCATATATATATGTGTGTGTGTGTATTTTAAATTAAAATTGTATTATTGTTTGAAAGTGCTTTCAATATGAACGTATCCTAGTATGATTTGTAAAATAAAAAACAGGGTGTGCTTCTCCCCAGCAGTTTCTAGAGATCTAGACTAGAGATCTGAGACTGTCTTACAGTTGGCCATTGCCTTACCACATTGCCTCACACTGGAGAGAAAGAGAATGATACGTGTATATTTATAATGGCATTCGCTTCCTGCCTTGTTATGGTATTAAAATACTTAGGATTTGTTACCAGTACACAAATAACTGACTAATGATACTCTTGTGAATACAGCAGAAGTATGTCTCATTTACATACATGCAAGGATATATACTTCTTAATCCCCAAGAGCATGAAATTTGAAAATGTAAATTTGGAATGAGTGTGTTAATTTTCAAAAATCAGAGTTAGTTATACTATTCTTTCAATTTTTTATAAATTTGAGCTTTCAGGATAAAAAGTTTTTAAAATAAATATGTTATACTTAAAGCTGAATTGTTAACGCCGTCTGGGCAAGATAAAAGCAGCAAAGAGCTGGTAAATTATTTTGAAGATTTAAAAACTCACCAAATTAAAACTGCTGTGTAACCCATTGTTTTAGAAGAAAGACCTGTATTATTTCCCTTCATCTTTATGCACTTTTTGTTTTAACAATATTGATAAAACTCCGGTGCCCAGCAGTGAGACCGTGTACAGGCAGCAGTTTACATTTACGAGAGATTAGTTGTATATTTATTCTTGAAAATTAGTACAAGAGGCTGTAATTAGCTGGGATGGGCACAGTTACATATACCTTTTTGTGTGTCTGTTCCACCCATTTTTGGGTGAAACTGACACTCATTTCAAACCACCTTTCTTAGGAGTCTGCGTGGATGTACATGATCTTTAGTGTGGTTTACAACTATTATTTTGAAGCCTTCTTCCTGTAGACATAGGGATAGTGGTATCTGTTGGCAGCCTTTGTTGTGAGTGAAGATCAAGTTTGAACATAAACATTCCCAGCACTTTGTTCTCAGCATGAAACTTACCCAGCAAGTTGAGATCTTCCTGTACCCACCTGGTGCATGGGTTAGGCTGTGATTTCATAAACCTTATTAAAAGAAAAAAAGCAGGTTTAGTTACCATTATTCTTGTCAGCAAATACAAAGAACTACTAAATCAGAAGTCTGATGCTGGGAAGATTTATTTGAAAATTTCACGGTCAAAATTTTAAAGTTGAAATGTCCTTGAAGATCTCTTATGTTAGGCTTCTTTATTTTCTGAAACCCAGAGAGTTCAGGTGTGACTTTGAAGGTCATCCAGCTAGTACCAACAAC
pathogenic
168,592