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
Determine whether the variant at chromosome 3, position 52405858, in gene BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAG
GATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCA
pathogenic
69,543
Clinical significance of chromosome 3, position 52405864, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAG
GTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCA
pathogenic
69,544
Considering the variant on chromosome 3, location 52405864, involving gene BAP1 (BRCA1 associated deubiquitinase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome']
GTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAG
GTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGNN
pathogenic
69,545
Does the variant impacting BAP1 (BRCA1 associated deubiquitinase 1) on chromosome 3, position 52405871, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCC
TGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCN
pathogenic
69,546
Benign or pathogenic: chromosome 3, position 52405878, gene BAP1 (BRCA1 associated deubiquitinase 1) variant? Disease(s) if pathogenic?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome']
CTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGG
CTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCC
pathogenic
69,548
Variant in gene BAP1 (BRCA1 associated deubiquitinase 1), located at chromosome 3 position 52405895: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAA
GCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAANN
pathogenic
69,553
Variant at chromosome 3, position 52405900, gene BAP1 (BRCA1 associated deubiquitinase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCAC
ACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTATACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGC
pathogenic
69,555
Chromosome 3, position 52406264, gene BAP1 (BRCA1 associated deubiquitinase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTC
AAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCTAGTACTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGC
pathogenic
69,576
Determine whether the variant at chromosome 3, position 52406277, in gene BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATT
CAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAAT
pathogenic
69,582
Classify the chromosome 3 variant at position 52406277 affecting gene BAP1 (BRCA1 associated deubiquitinase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
CAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATT
CAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAAT
pathogenic
69,583
Is the genetic mutation found on chromosome 3 at position 52406807, within the gene BAP1 (BRCA1 associated deubiquitinase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
TGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCT
TGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTNN
benign
69,606
Considering the genetic mutation at chromosome 3, position 52406821, impacting BAP1 (BRCA1 associated deubiquitinase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
benign
CGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTA
CGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCT
benign
69,613
Does the variant on chromosome 3 at location 52406827 affecting gene BAP1 (BRCA1 associated deubiquitinase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
GGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTC
GGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCN
pathogenic
69,615
Determine if the mutation at chromosome 3, position 52406843 in gene BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAA
GAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAN
pathogenic
69,618
Mutation found at chromosome 3 position 52406848, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTG
CCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATAACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCT
pathogenic
69,620
A mutation at chromosome position 52406862 on chromosome 3 in gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAA
CCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCA
pathogenic
69,624
Located at chromosome 3 position 52406868, the variant affecting gene BAP1 (BRCA1 associated deubiquitinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGG
TTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGN
pathogenic
69,627
The mutation in gene BAP1 (BRCA1 associated deubiquitinase 1) at chromosome 3, position 52406895—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACA
GTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGAC
pathogenic
69,634
The genetic variant at chromosome 3, position 52406895, affecting gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACA
GTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAN
pathogenic
69,635
Clinical significance of chromosome 3, position 52407210, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCA
TGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCANN
pathogenic
69,658
The mutation impacting BAP1 (BRCA1 associated deubiquitinase 1) on chromosome 3 at position 52407236: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCT
AACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTC
pathogenic
69,664
Evaluate if the mutation on chromosome 3 at position 52407243 in BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCT
TTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGC
pathogenic
69,665
Is the genetic variant on chromosome 3, position 52407294, gene BAP1 (BRCA1 associated deubiquitinase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGG
CTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGNN
pathogenic
69,678
Variant at chromosome position 52407334, chromosome 3, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
benign
CTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGA
CTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAN
benign
69,688
Variant at chromosome position 52407375, chromosome 3, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
benign
CAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAG
CAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGNNNNNNNNN
benign
69,689
Evaluate this variant at chromosome 3, position 52407399, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGAT
ACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGA
pathogenic
69,695
Variant in gene BAP1 (BRCA1 associated deubiquitinase 1), located at chromosome 3 position 52407470: benign or pathogenic? What disease(s) does it cause if pathogenic?
benign
CAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCT
CAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTN
benign
69,712
Evaluate this variant at chromosome 3, position 52408456, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
benign
TCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGG
TCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGNN
benign
69,748
Located at chromosome 3 position 52408464, the variant affecting gene BAP1 (BRCA1 associated deubiquitinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
benign
CGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTG
CGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGN
benign
69,750
Does the chromosome 3 mutation at position 52408467 within gene BAP1 (BRCA1 associated deubiquitinase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
benign
CCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTG
CCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCATGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTT
benign
69,751
Clinically, how would you classify the variant at chromosome 3, position 52408489, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGG
ATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGNN
pathogenic
69,756
Evaluate this variant at chromosome 3, position 52408599, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCG
CCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGNNNNNNNNNNNNNNNNN
pathogenic
69,787
Determine whether the variant at chromosome 3, position 52408616, in gene BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
benign
GGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTC
GGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGT
benign
69,791
Chromosome 3, position 52409556, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome']
AGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGG
AGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTG
pathogenic
69,804
Located at chromosome 3 position 52409584, the variant affecting gene BAP1 (BRCA1 associated deubiquitinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTC
GAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCN
pathogenic
69,813
Is chromosome 3, position 52409596, gene BAP1 (BRCA1 associated deubiquitinase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTG
GAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCT
pathogenic
69,815
Does the chromosome 3 mutation at position 52409596 within gene BAP1 (BRCA1 associated deubiquitinase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma,_uveal,_susceptibility_to,_2']
GAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTG
GAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGN
pathogenic
69,816
Benign or pathogenic: chromosome 3, position 52409612, gene BAP1 (BRCA1 associated deubiquitinase 1) variant? Disease(s) if pathogenic?
benign
CGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCC
CGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCNNN
benign
69,822
Considering the variant on chromosome 3, location 52409706, involving gene BAP1 (BRCA1 associated deubiquitinase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
benign
TAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTG
TAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGNN
benign
69,834
For chromosome 3, position 52409715, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGT
GACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTN
pathogenic
69,836
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 52409749, gene BAP1 (BRCA1 associated deubiquitinase 1): what disease(s) if pathogenic?
benign
TCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGT
TCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTN
benign
69,850
Variant in BAP1 (BRCA1 associated deubiquitinase 1), chromosome 3, position 52409757—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
benign
GAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGAC
GAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGA
benign
69,856
A mutation at chromosome position 52409759 on chromosome 3 in gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
benign
GAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACAT
GAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGCATTCCCAGTGGCCCTCAGGGTCAGATCTGCCCAGTTGGCTGTGAGCCAGGATGAAGGCACTGCAGCCTACCTCAGGGCTGAAACCCTTGGTGAAGTCCTTCATGCGACTCAGGGTGGGTCCCAGGTCCACGCTGCTGCAGTTCAGGAGCACGCTCAGCAAGGCATGAGTTGCACAAGAGTTGGGTATCAGCTGTGAAACCAAGAATAGTCACCCATACACAGCACCCCTCACTGCAAGCCCCAAGCCCATATACATCAAGAATGGGGATCCAGAGCAGGTCAGTCATATCTGGACAACTCCCCTTCTCAGCTCCTTTCATCTTTGCCTAATGTTTATTCATTTAACAAGCACCTACCAAATACCCACTGGATATCTGAGGACACAGAGAGTGGACTCAGACACCCTCCTACTCTAAAGCTGTTCCCTTTAATGAATTAAGAGTTCAGTTCGTTCTGCCAGAGGATTTCTGTAGCTACCACCCCTAGAATCTGCCTATCTCCTCCTCCTGTCTTCCTCCATTTCCACTTCCCAAGCAAAAACATGGCAGCATCCCACCCTCCAAACAAAGCACAGAGTCCAGCAGACCTGGTGGGCAAAGAACATGTTATTCACAATATCATCATCAATCACGGACGTATCATCCACCAAGGTAGAGACCTTTCGCCGGGACCGGCGCTCTTCGATCCATTTGAACAGGAAGATAAATCCATATACAGGGCTGGGGGAAGTAAGGGGCAGAGCCAGATCAGCCAAAGGGGAGAAGACAATCAGCATTCCCTTCTTTCTCCCATTAATCCTTTGCACTGCGTCATCACTCAGGTGTCCTTGCTGTGATCCCCCCTCTCCCCTGGCTTCTTCCCAACACTGTGTCTGAAGTGGCCTTGTGCCCTCACACACCAAAGGCCTGCCACAGGCAGAGCAAAGCATAAGCCTCTGACTGTGATGCTCCAGGAGTCCACCCAGTCTCCTTATGAAGTCTATAGTTCTGGGTAAGAGAAGAAAAGCTGGAACTGAGGGCCAAGGATGGGACAGGGTAGGAACACAAAGTAAGACAAGAACAAAAACTCTGATGAGGAACTGAGGCACTCCTTCTCACTTGTGGGCCCCAATGCAGTCAGGAAAGCAAATGAACACCCACACCAGTCTCTTTTGTTCCAGGAAATTAAAGTAGACTTCTTGGTTCAGTCACGGTTGCTACTGTTGCTACTCTCTTACACATCTATTCTGCAGGACCACTGGGAAAAGACTCTAAGTGTGGGCACCCAGGAGGGGCCTTGTCACCCCAACCAATCAATACAGGATGACTTTGTGTCAGGATTAAAGCCAAGGACACATGGGCACACTAAAATTAATACATTACACAACTGCACAAAAGACATTGTGTGACCGGGGTCTTCCCGCTGCAAGGCCAGGAAAGCAGCTGAACCAAAGGATGCTTAGGGGTGGGGAGGGGGCTGCTACAAAAAGGGAAGCGCTAAGGAAAGTTTGGGAGAAAAGAAAGTATCAGTTTGATCAGGAGCGGGCACTCAGAGAGCAAGGCTGCTGCTTTCTGTGAGATTTTACAACGTAGGGTTCCTGGCACTGTCTTCCCTAAGGGGCCCTGTTCTCTGGGACCTTCCCCAGCACTCTGGGTGTAAGGGGCAGCCCTGGTGTACAGCCACTCACCCCTGACATTTGCTCTGAAGGTCGTAGATCTCCTCCACTTGCACCCCCTTGACACCTGCGATGAGGAAAGGAAAGCAGTAGGGAAGGACAGCCCCTGATGAGTGAGGGCGCAGGGGTGGGCCGCCACAGCCCCGGTCCGGCAGGGAGAAAAGGCTCTTACCGAAATCTTCCACGAGCAGGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTCCCGGTCCCCTCCTCACCTGGGTCGCTCTCCAGCTCCAGCCAGCCCTTATTCATCTTCCCGCGGGGCGGCCCCTCAGCGCCATGTCCAGGCCCTCCCTCCCCACCGCTGCCCCCACCGGGAGCCCCCACCGCCCCCGGGGCCCCTCAGTCCCACACACAGACAACGGGCCCAGTCGCGTCACCCGCCCGCGCCGGCGGCAGACGTCACCAAGGCGCGACGGCCCTGCTCCGCCTCTGGGCTCGTCTTCCGCCTGTCGGACAGCAGATGCGGGCATGCGCTCGAAGGCGAACGCGCACGCGCGGAGGGACGGGGGCGAAGGGGAGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGACGGGGGCGAAGGGGAGGGGCGGGGCGGGACGGGGGCGAAGGGGAGGGTCGGGACGAGGCGGGCGAAGGGAAGAGGGGGTCCGGGCGATGCTGAGCGCTGAGGCTCGAGAGGAGGGGCGGGACGGGCAGTACTAGGCCCGGGTGCTGCGAGGGGAGGGGCGGAGCGGGCGAGGGGAAAAGGCGGGGCCGGGAAGTGCTGGGCGCAGGTGGGGCGAGAGGAGGGGCGGGGCAGGCTAGGGGAAAAGGCGGGGATGGGCGGGGCTGGGCGCGGATGGTGGGAGAGGAGGGACGGGGCGGGGCGGCGAACGGAAGGGGCGGGGGCGGGTGTTGGGCGCTGAGGCGCGAGAGGAGGGGATGGGCGGGGCGCGCGGCCGTTAGCGCGCGGCCGTTAGCGGTCGGTTTCTACTAACGGTAGGCGTCGCCGCGATTCCCGAAGGTCATAGTCCGCGTGACCCACCCCCGTTTGCGCGCTCGCAGTCTTCGCCGGCGCAGTCACCGCGCAGGGCGGCCGCCCGGAGGTAGCTACCACGGCCTGTGTCAACGACTAAAGCTCCAGTACAGCGGCGCCCTCAGACAGCTGGGAGGGTGGCTCTGGCCGGGAGCGGCGGCCGGTGAGCTACCGCGAGGAGGAGCGGCGGAGGCGACCTCGGCCCGGCCCTGCACTGGCCGCCCGGCAGGCGCGACATGAGCCTGGTCTGGCATCCGCGGGATGCTCCTTAAGCCCCTTCTCCGGCTGTTAACCTCCGGGGAACGGTTGTGACCACACCGACACGTATTTTACAGATAAATCATTCTTGCGGCGGCGGGTCGAACACGTTTATTTATTTTTTATTTTCTCAACAAGCTTTTACCCAGCACCTGTCCAGTGAAACAACTTGATAATCGTTTCGAGGGGCGTCCGCCGGGTTAGGAAGCCACTGCCTGGCAGCTTGTGGAAGCCTCATTTGCAAAGCCACCCCTCAGATGTTTTGAAGATCGTGACGTCTTGTAACTAGCAGTGTGTGCACAGAATCCTACTCAAGGAACGTCTTGGCCCAGCGATGCAAAGAACTGAAGTTTCAAGGTTTTATGTCTATTGCTGGATGGTCGGGGTAGCCCCAGTAACTGGGAACTGCTCCGCAGTCCGCTCACGTGGACCCCTGTGGGAATAGCAAGGTCAGGACATGCCCTTCTCTCTCCTCTTCCAGCCTGTCCAGTGTTTTCCTTAAGGAAGAAGCCATCAGATGTCATTGCTTCTGCAACTCCTGGGTTAGAGGAGGAGACAGAACAAGCACAAAGAAGGGGAGGGCAGGGTGGCTTTGGTTTCTTGAACAGTAATTTCCTCAGTCGTCCTTATTCATGCAGAATAGTTTAAAGTCCCTGAAGATATTCCCGATCTCCAGCCGTGATCGGAGGCCATGGATACTGGAGTGTCTCTGGAGTGACCTGATTCACCCAGCCCTCCTTCTAAGAAATGCTGTCCTTCTCCTCTCCCCTGACTAGACAGTCCTTGCTTCACAGCGGTGGATTTTCTTTCGTTCCCGTTCACTTTCAGGGATCTCCCCGTTAACCAGTGAAACTGTACATTTGTTTTACAGTTTGTTTACTAATGAAAACAGGTAACAGCCGGAGTTGGCTGACATNNN
benign
69,857
Does the genetic variant at chromosome 3, position 53179799, impacting gene PRKCD (protein kinase C delta), appear benign or pathogenic? If pathogenic, name the associated disease(s).
benign
GATGCAAATGCCACCAGGGCCCAGGTAGGAGGAGTGAAGAGAGTGCCCCTGGCCTGGGGTAGATTGATGGAGGGCAGCCATCCCAGTGCTAGCTGGCTGTTGCCCAGTGGGCCCAACATCACATTTTCCAGTTTTACCAGAGACGCCGCAAATCCAGACTTACATAAACCTCTCAATATTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTGGCTCTTGTCACCCAGGCTGGAGTGTACTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCACCACCACACCCAGCTAATTTTTAGTAGAGATGGCTTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGCCATCTGCCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACTGCGCCTGGCAAACCTCTCAGTTTTTAACACTGGCAACTGAGACTAGTGTGTGTGTGCATCATGTGGGCCAAACCCAATCATAGCAGAGCCCTGGGGGAGCGGGTCCCTGAGTGCTGCCCGTGACTGTTCCCGCTGGTCCCGCCCGGCCGCCTGGCCTCACCCCTCTGTGTGCACAGCCCCACTGCAGGCCCCACCATGGCGCCGTTCCTGCGCATCGCCTTCAACTCCTATGAGCTGGGCTCCCTGCAGGCCGAGGACGAGGCGAACCAGCCCTTCTGTGCCGTGAAGATGAAGGAGGCGCTCAGCACAGGTAGGCCTGGAGGCTGGACCCTGGAGAGGGGCTGGGAATCTGGGCCCAGCTGGAAGGACTGGAGGGGGCCTGGCCTTGTTCCCTGCAACCTCTGAAGGATTCTGCTCTTCCTCATCCTTGACTCCCTGCCCCACTCAGCTATGAAGGCAGAGGCCACTGAGTCGCTATAGGGCTGCAAACACTGGCCAAATTGAGCCCTCCTTGGAAGGCTTGGAGTTTCTGGTTCCTCCTCCCTGGTTGTTTTACCCAGCAATTTTTACATGTCCATTTGTGCCAGGGCCTGTGCGGGGCACTGAGGATACTGTCATGCTCCAGGACTAACCTGGCCCTGCCCTCATGGGGTTCATAGTCAGGTGGGGAAACCAGGCACGTCAAAAAGCAGTGAGTCCTGCAATAGGGAAGCCCAGAGAAGGCACCCTCTGAACCTGAGGTCAGGGAGGACTTCCTGGAGGAAGCACATACCTCACATCATTCCCTCTTGCTTTTGCCCTGGCCTGGTGAACCCCTATTTGTCCCTCAGGTCTCGGCTGAACTGTTCCTTCCTCTAGGAAATCTTCCCTGACCCTTAGGCTTGACCCTGTAGCACTACCAGCCTTGCCCTCTTCAGTCTCATCACAACTGTGACTTAACAGTTACTTGAGGAAGGAGTTGGTGCATTCGCCACCCGGGCCTGGGGATCCAGGAGGACAGGCCCTGGATGTAGCTTTTCTTTCAGCTGTGTTCTGCGCCTCGAATATTATGGCTGGCATGCAGGAGCTGTCAGCCCATGTTCCCTGCATGAATGCATAAGGGCAGGCGACATTTAAATGGAGCTGGAGCAAGAGGATCAGAGGAAGAGGGAACAGCAGGAACAAAGGCCTGGAGGGAGGACCTAGCAGGGTGCCCAAGGTAGTTCTGTGCTCTAGAGGACACTGGGGAACCACAGCAGGCCCTCAAGGCAGGAGAGTCGGGCAGATTCTGCCAGGGGAAGGCCGTGGAGGTCTACGAGGGAGGGACAGAGGGGCCATGGCCCAACCTTCTCTGCCTGGCCTTGTTGCAGAGCGTGGGAAAACACTGGTGCAGAAGAAGCCGACCATGTATCCTGAGTGGAAGTCGACGTTCGATGCCCACATCTATGAGGGGCGCGTCATCCAGATTGTGCTAATGCGGGCAGCAGAGGAGCCAGTGTCTGAGGTGACCGTGGGTGTGTCGGTGCTGGCCGAGCGCTGCAAGAAGAACAATGGCAAGGCTGAGTTCTGGGTAAGGGGCGCACGAGCCGTGCCGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGCATGCGTGCATGTGTGTGCGTGCACACACGCGGGCTTGGTCAGTGAGCACAGCTGAAGAGCACCGGGCCCTGTGCTGGCCACCAGTCCAGCCCTGTGGCCAACATGTCCTGGGTGTGAATCCTGGCTCTGCAATTCACCAGATTCCCAGCCTCTCTGAGCTTCTGCTTCCGCATCTGTTAAGGGAAGGCGCTACTAAATGTGCCTACCTCAGGGTCAGTTGTTCAAATGAAAGGAGCAGCTGGATGTACAGGGCTTATTGCAGAACCTGACACATAGCAGGTGCTAAAGACGGCCAACTTCCTTATTGTGACTACTTTTTCCTTTTTAATTTTGGAAAGGCAGGATATGCACATAGTAAAACATTTTTAACTGCATGAAAGGGTGTGTCCCTGCCCCAACACCAGGCCACCAGGCCTCCTTCCCAGAGGCACCCATTATCCCAGTTCTTTTTGGAATCTTCGCATATATTCTAGGCCTTGGCAGCCATTGAGGGGGCAACATAGTGATCTTTAACAGCAAGGAGGTGGGAGAAGGGGAGGCTGACGGTCTCATCTACTTACCTGCTGAAATGGAGACTCTGCACAAGCATGTGGCCACTTGGCCATGTGCAGCTGTGTGTTCTGGGTGGCCACAGGATGCCAGTGCTGGCAGAAGTCCCCTGGGGTTACATGTGGGATGTAACCAAGATGTCTCCACCAGGAAAGGCCCTGTGACCATTGGAGGCTCTGATCAGCCTCCTGCGAGGGGTGAGGGGGCTGGGATGGGAGAGAGGTTAACACAGGGCTGTACTGACCCTTGGCCAGTCAGGCAGGGACACAGAGGGGCCTCTGGCTGTGCTGTCTCCGCTCCCCCAAGGGAGGATATCAGTCACCAGGTCTAGGTCTTGGGGGAGGTGAGGGGATAGAGGCTCAGGTCCCACCCTCGAGACTGTCCAATCTGCATGAGGAGCCCTCGGCACAGAGGGAGGAGCAGCGTGTGTGCACGAGGATGAGTGTGTCTGTGTGTCTGTCTCTCTCCGCATGTGCACACGGGTAGGGGCCTCCATTCTAAGATCCTTGCTAAGGGAGCTGCAGCGGGTAGGGGTGGGGAATTTCCCTTCCCGCTCTATTCCCCAGCTATGTGTCTGGGCTGGGTGTGGGCTGGACCCTTTCACTTCCCTAAATGTAATAATACCCCTGGGTACAGGGTGGGGGTGGGGCTCAGGAGTGGGGCTCAGGCGGGGCCCTGCCCACACTGGGCAGACAAGTGTCTGGCTAGGCCTTGGGGGGCTGCCTTGGCCTTGGGGGACCAGCCATGGGGGTGGGTTCTGAGTTTGGCCTGGCCCAGGCTGCCCTCACTGACCTTGTTCTCCCCTGGCCTCTGGCCCCCAACAGCTGGACCTGCAGCCTCAGGCCAAGGTGTTGATGTCTGTTCAGTATTTCCTGGAGGACGTGGGTAAGAACTCCCTGGGGGTGGAGGGCTCCCTTGCCGGGTTCAGAGGCAGAGCCAGCACTGAGGTGTAGGGAAGCTGCTCCCTTCGGCAGAGCTGTCCAGGACCACCCTGGGAGGGACTGTAGGGGTGCCACCCCTTCCAGATACCAGGGCTGACTTCCCTACTCCATGGTCACCAGATTGCAAACAGTCTATGCGCAGTGAGGACGAGGCCAAGTTCCCAACGATGAACCGCCGCGGAGCCATCAAACAGGCCAAAATCCACTACATCAAGAACCATGAGTTTATCGCCACCTTCTTTGGGCAACCCACCTTCTGTTCTGTGTGCAAAGACTTTGTCTGGTGAGAACCGGCCATGCCCACTGGTGGTGGTGCAGGGTAGTGGGGGCCGATCCCGGTCCCCGCTCACTCACTTTGCCTGGGTTTTGCCTTTCAGGGGCCTCAACAAGCAAGGCTACAAATGCAGGCGTAAGTGTCTCCACAGGCCAGTTTGTACGTATGTACCCATGTGTGCTCACGTGTGCCAGTGCCTGTGTGTATGCCAGTGCCTGTGTGCGCTCAGAGAGTGTATGCACGTGAGTT
GATGCAAATGCCACCAGGGCCCAGGTAGGAGGAGTGAAGAGAGTGCCCCTGGCCTGGGGTAGATTGATGGAGGGCAGCCATCCCAGTGCTAGCTGGCTGTTGCCCAGTGGGCCCAACATCACATTTTCCAGTTTTACCAGAGACGCCGCAAATCCAGACTTACATAAACCTCTCAATATTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTTTGGCTCTTGTCACCCAGGCTGGAGTGTACTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCACCACCACACCCAGCTAATTTTTAGTAGAGATGGCTTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGCCATCTGCCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACTGCGCCTGGCAAACCTCTCAGTTTTTAACACTGGCAACTGAGACTAGTGTGTGTGTGCATCATGTGGGCCAAACCCAATCATAGCAGAGCCCTGGGGGAGCGGGTCCCTGAGTGCTGCCCGTGACTGTTCCCGCTGGTCCCGCCCGGCCGCCTGGCCTCACCCCTCTGTGTGCACAGCCCCACTGCAGGCCCCACCATGGCGCCGTTCCTGCGCATCGCCTTCAACTCCTATGAGCTGGGCTCCCTGCAGGCCGAGGACGAGGCGAACCAGCCCTTCTGTGCCGTGAAGATGAAGGAGGCGCTCAGCACAGGTAGGCCTGGAGGCTGGACCCTGGAGAGGGGCTGGGAATCTGGGCCCAGCTGGAAGGACTGGAGGGGGCCTGGCCTTGTTCCCTGCAACCTCTGAAGGATTCTGCTCTTCCTCATCCTTGACTCCCTGCCCCACTCAGCTATGAAGGCAGAGGCCACTGAGTCGCTATAGGGCTGCAAACACTGGCCAAATTGAGCCCTCCTTGGAAGGCTTGGAGTTTCTGGTTCCTCCTCCCTGGTTGTTTTACCCAGCAATTTTTACATGTCCATTTGTGCCAGGGCCTGTGCGGGGCACTGAGGATACTGTCATGCTCCAGGACTAACCTGGCCCTGCCCTCATGGGGTTCATAGTCAGGTGGGGAAACCAGGCACGTCAAAAAGCAGTGAGTCCTGCAATAGGGAAGCCCAGAGAAGGCACCCTCTGAACCTGAGGTCAGGGAGGACTTCCTGGAGGAAGCACATACCTCACATCATTCCCTCTTGCTTTTGCCCTGGCCTGGTGAACCCCTATTTGTCCCTCAGGTCTCGGCTGAACTGTTCCTTCCTCTAGGAAATCTTCCCTGACCCTTAGGCTTGACCCTGTAGCACTACCAGCCTTGCCCTCTTCAGTCTCATCACAACTGTGACTTAACAGTTACTTGAGGAAGGAGTTGGTGCATTCGCCACCCGGGCCTGGGGATCCAGGAGGACAGGCCCTGGATGTAGCTTTTCTTTCAGCTGTGTTCTGCGCCTCGAATATTATGGCTGGCATGCAGGAGCTGTCAGCCCATGTTCCCTGCATGAATGCATAAGGGCAGGCGACATTTAAATGGAGCTGGAGCAAGAGGATCAGAGGAAGAGGGAACAGCAGGAACAAAGGCCTGGAGGGAGGACCTAGCAGGGTGCCCAAGGTAGTTCTGTGCTCTAGAGGACACTGGGGAACCACAGCAGGCCCTCAAGGCAGGAGAGTCGGGCAGATTCTGCCAGGGGAAGGCCGTGGAGGTCTACGAGGGAGGGACAGAGGGGCCATGGCCCAACCTTCTCTGCCTGGCCTTGTTGCAGAGCGTGGGAAAACACTGGTGCAGAAGAAGCCGACCATGTATCCTGAGTGGAAGTCGACGTTCGATGCCCACATCTATGAGGGGCGCGTCATCCAGATTGTGCTAATGCGGGCAGCAGAGGAGCCAGTGTCTGAGGTGACCGTGGGTGTGTCGGTGCTGGCCGAGCGCTGCAAGAAGAACAATGGCAAGGCTGAGTTCTGGGTAAGGGGCGCACGAGCCGTGCCGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGCATGCGTGCATGTGTGTGCGTGCACACACGCGGGCTTGGTCAGTGAGCACAGCTGAAGAGCACCGGGCCCTGTGCTGGCCACCAGTCCAGCCCTGTGGCCAACATGTCCTGGGTGTGAATCCTGGCTCTGCAATTCACCAGATTCCCAGCCTCTCTGAGCTTCTGCTTCCGCATCTGTTAAGGGAAGGCGCTACTAAATGTGCCTACCTCAGGGTCAGTTGTTCAAATGAAAGGAGCAGCTGGATGTACAGGGCTTATTGCAGAACCTGACACATAGCAGGTGCTAAAGACGGCCAACTTCCTTATTGTGACTACTTTTTCCTTTTTAATTTTGGAAAGGCAGGATATGCACATAGTAAAACATTTTTAACTGCATGAAAGGGTGTGTCCCTGCCCCAACACCAGGCCACCAGGCCTCCTTCCCAGAGGCACCCATTATCCCAGTTCTTTTTGGAATCTTCGCATATATTCTAGGCCTTGGCAGCCATTGAGGGGGCAACATAGTGATCTTTAACAGCAAGGAGGTGGGAGAAGGGGAGGCTGACGGTCTCATCTACTTACCTGCTGAAATGGAGACTCTGCACAAGCATGTGGCCACTTGGCCATGTGCAGCTGTGTGTTCTGGGTGGCCACAGGATGCCAGTGCTGGCAGAAGTCCCCTGGGGTTACATGTGGGATGTAACCAAGATGTCTCCACCAGGAAAGGCCCTGTGACCATTGGAGGCTCTGATCAGCCTCCTGCGAGGGGTGAGGGGGCTGGGATGGGAGAGAGGTTAACACAGGGCTGTACTGACCCTTGGCCAGTCAGGCAGGGACACAGAGGGGCCTCTGGCTGTGCTGTCTCCGCTCCCCCAAGGGAGGATATCAGTCACCAGGTCTAGGTCTTGGGGGAGGTGAGGGGATAGAGGCTCAGGTCCCACCCTCGAGACTGTCCAATCTGCATGAGGAGCCCTCGGCACAGAGGGAGGAGCAGCGTGTGTGCACGAGGATGAGTGTGTCTGTGTGTCTGTCTCTCTCCGCATGTGCACACGGGTAGGGGCCTCCATTCTAAGATCCTTGCTAAGGGAGCTGCAGCGGGTAGGGGTGGGGAATTTCCCTTCCCGCTCTATTCCCCAGCTATGTGTCTGGGCTGGGTGTGGGCTGGACCCTTTCACTTCCCTAAATGTAATAATACCCCTGGGTACAGGGTGGGGGTGGGGCTCAGGAGTGGGGCTCAGGCGGGGCCCTGCCCACACTGGGCAGACAAGTGTCTGGCTAGGCCTTGGGGGGCTGCCTTGGCCTTGGGGGACCAGCCATGGGGGTGGGTTCTGAGTTTGGCCTGGCCCAGGCTGCCCTCACTGACCTTGTTCTCCCCTGGCCTCTGGCCCCCAACAGCTGGACCTGCAGCCTCAGGCCAAGGTGTTGATGTCTGTTCAGTATTTCCTGGAGGACGTGGGTAAGAACTCCCTGGGGGTGGAGGGCTCCCTTGCCGGGTTCAGAGGCAGAGCCAGCACTGAGGTGTAGGGAAGCTGCTCCCTTCGGCAGAGCTGTCCAGGACCACCCTGGGAGGGACTGTAGGGGTGCCACCCCTTCCAGATACCAGGGCTGACTTCCCTACTCCATGGTCACCAGATTGCAAACAGTCTATGCGCAGTGAGGACGAGGCCAAGTTCCCAACGATGAACCGCCGCGGAGCCATCAAACAGGCCAAAATCCACTACATCAAGAACCATGAGTTTATCGCCACCTTCTTTGGGCAACCCACCTTCTGTTCTGTGTGCAAAGACTTTGTCTGGTGAGAACCGGCCATGCCCACTGGTGGTGGTGCAGGGTAGTGGGGGCCGATCCCGGTCCCCGCTCACTCACTTTGCCTGGGTTTTGCCTTTCAGGGGCCTCAACAAGCAAGGCTACAAATGCAGGCGTAAGTGTCTCCACAGGCCAGTTTGTACGTATGTACCCATGTGTGCTCACGTGTGCCAGTGCCTGTGTGTATGCCAGTGCCTGTGTGCGCTCAGAGAGTGTATGCACGTG
benign
70,038
Benign or pathogenic: chromosome 3, position 53186457, gene PRKCD (protein kinase C delta) variant? Disease(s) if pathogenic?
benign
CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGGCTAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGATATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAATAAGAGGGAAACTCCATCTCAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGATCGAAGTATTTATGATGGCTTCAGATCAATGTTTTCCTAGAAACTGGAACCCAGCAGACCCCACTGAAGCCCTCCTTTCTCTTGCTCTCCTGCGCCTCTCCTACACTGCCCCCTGCCCTTGGCTGAGCTCTGAGACTGACAGCCCCGCTTCTCCCTCACCCCAGACTGCGGCATGAATGTGCACCATAAATGCCGGGAGAAGGTGGCCAACCTCTGCGGCATCAACCAGAAGCTTTTGGCTGAGGCCTTGAACCAAGTCACCCAGGTGGGCAGGTGCCATGGGGACCCTGGACACAGGGCAGTGGGGTCAGGGACAGTCAAGGCTTACAGCCACTGCTGGGGAGCCACAGACAGCCAGGATATATTTAGACCCAGGACTCTACTTCGGGAAGATGCAACTCAAGAATTTAGGCAGCAGAGGGAGGGGGGCTTTTTTTCATAAGAAATTCATTATTCAGGCAGTTCTTTACTTGAGGGTGAACCTGGGGACCACAGGAGTGGGTGTTGGAACACTTTGAACTAAGACTTTGGGTGTGGACGTTTGTATGTGGGGGGGGCTTGAGGGATGCCACAAAACCTAAAGGTAAAATTTTAGAATCAATCAGAAATGAAGCTAAATAGTCAAATAAAATCTATCGAGTGAGTGGTTGGGAAGGTAGGGTTCCGTTTACAAAACTTCTGTTTGTAATCAGAGCCTTTCAGACCACCAAGGCTTCTCTGGGCTCCTGGAAGAGTGCGTGTGTGTACACGCAGCCCGAGTAGGGGGCCTGGGCTGTGCCCCTGTTGTCTCCTCTTGGTGTTAAGGGTGGAGTTATACCTGGGAGTCTTCCTTCTGGGCTGGGAGTTCTGATAATGGTCTGACCATCTGGCCCCCCACCTCTGCTCCCTCCCCAGAGAGCCTCCCGGAGATCAGACTCAGCCTCCTCAGAGCCTGTTGGGATATATCAGGGTTTCGAGAAGAAGACCGGAGTTGCTGGGGAGGACATGCAAGGTGAAGCTGGGTCCATTGCCCCATTACGGTTTTTATTCCCCCTGAGGCCAAAGAAAGGGGACTGTCCTCCCTTCCATTGTCAAGTGAGACATGGAAGGAACCACCGGTCCTGGGGAGCGAGCCCCTTCCTCTCTGAGGCCCCTTCCCCCAGCCTACCCCAGGCCCCGGGGGAGGGGAGTTGTGTAGACTGAGACCCCGATCTGAGGAGGTGCCATCTCTCGGGCAGACAACAGTGGGACCTACGGCAAGATCTGGGAGGGCAGCAGCAAGTGCAACATCAACAACTTCATCTTCCACAAGGTCCTGGGCAAAGGCAGCTTCGGGAAGGTGAGGGCTGTGAGCCGGGCACCTGCTTCCCACCCCACCCTGGCTTCTTCCCGCTTAGGTGGCTGAGGTGGGAGTCTGTGAATCGGGCTGTGGCCCCTGCCCCGTCCTCACCTGCTCAGCACCCGTGTCTCCCCATCAGGTGCTGCTTGGAGAGCTGAAGGGCAGAGGAGAGTACTTTGCCATCAAGGCCCTCAAGAAGGATGTGGTCCTGATCGACGACGACGTGGAGTGCACCATGGTTGAGAAGCGGGTGCTGACACTTGCCGCAGAGAATCCCTTTCTCACCCACCTCATCTGCACCTTCCAGACCAAGGTGCCCGGGCCTCCTGCCGTCACCACCCCATGCCACAGCCATGTCCCACAGCTCCTCAGCCCCCCTCAGTCAGGGCTGTGTCTCCCCTTCAGGCCACTTAAGGCAGGGCCATGCTTTCCCCCCTCATGCCTCCCAGGGCAGAGTCGTCCACCTCAGCCAGGGCCTGTCCCTGCTGTTTCCTGTTGGGGCTTGGCCCCAGTGGCCCTCAGTGAGGGAGCCTCCTGCCTATTCCTCACCCCTGCTCACCACCCTTCCCACCCCAGGACCACCTGTTCTTTGTGATGGAGTTCCTCAACGGGGGGGACCTGATGTACCACATCCAGGACAAAGGCCGCTTTGAACTCTACCGTGCCACGTACGTAAGGGCCATGGTGGGGAAGGGCCCAGTGTGGAGGAAGGGCTACTGGCTCAGAGCCCACTTCCAGTCTGCCCTCCATGCCTTCTTCCCTCTCCCTAGAAAAGCCAGCCTGGGCTAGAGCGGCAACTGGGGAGATGTGGGGGTAGCCTGGGTCGGCACCACACAGGAAGCCATGGGTGGCAAGTGAACTGCGGCTGGGTGCGCAGCGCAAATACTCTGGGTCCTGGCCGCTCCGTGGGCCACAGCCAGGGCAGCCTTGCAAATGGTGGTCCTGCATGACACAGGACACAGGACCCTGGTGCGTGGCCCCCAGACCTGCTTCTCCCCATTCACATGCCCCTTACCCCAAACTAACCGTGTATGTGTGTGTGTGTGTGTGCATGCATGCAAACACATATGTACATGCATGTAAATGCATACACTCTTAGAGAATTGGCTCACTGAGAGCTTTCCCTTCAGAACTTTCTGCCTGGGCTGCCAGCCCCCACTTGCCTGATACAAGATGTACTTGATCATGCTCAGGTGGTCCATGGAGTTATTTGCAGCATTTCTTGCTCCTGGAAGTGGGGTTGAGGGCCCGAGGAGAAGCAGAGGCTGCTCGGCAGAGATCCCGGAACACTTTATCCCTCTCTCTTGCCCAGGTTTTATGCCGCTGAGATAATGTGTGGACTGCAGTTTCTACACAGCAAGGGCATCATTTACAGGTGCGGGGGTGAGGGCAGCGGGGGCTCTTGGGAGGGGAGGCTCCAGCCCCATCATATCTTCTGAAATGCTCCAAGCAGGATCCCCCCAACTCCAGTTCCTTCTCTGCTGGAAATCAATCTTTAGCTGGGTATTTGCCTATGCCTCCCACCCTGGTGTTAGCATTCCTGTGGCCACCATTTGAGGCTGGCTCAGCTTCAGGAACTAGGAACTCACTGCTCATATTTGACACCATCGCCCCACCCATCCTTGGAGCCGTCAGTCTCGCTCTGAAGCCCCATCGAGTCATCTAAGCTTCTGCCAGAAGGGACTCCTTCCATAAAGTCTCATCTAATAAGTTATGATTCCATCCTATGGTGGGAACTGTACACCCACCAAAAAGGCTGAGGTCAGGCTCTGTATACTGATGTGGGATAATGCCAAGATATGTTGTTAAGTGGAAAAACAACCTGTGGGAAAGTGTATATCGAATATTAGCATTCAGCCTTTAAAACGTGGGAGGGAGACTGAGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAGTTAGCTGGGCATGGTGGTGGATGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGTGTGACAGAATGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTGGGAGCGAGCTGCATGCTGCCATATGCTTGTCCACGCCTAGAATTGCTCTAAGGAGAGCCTCATGATTGAGCTCAGTGGAAGGTAGACTTTGTACTGTTTGCCATTTCTAGTTCCCATATGCATTAAGTATATACTCAAATGACTAATTACTAAATATAGACATGGTCTCTGCCTGTGGGAAGTAGACAAACCTGAACCTGGGGGTCACTTCTGCTGCTGACTGCTAGGGGACCCTGGGCGAGTGACATCACCTGTTTGAGCCCCATTTGGGCTTCAGGAAGTAGGG
CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTGGGGAGTTCGAGACCAGCCTGGCTAACATGGAAAAACCCCGTCTCTACTAAAAATACAAAATTAGCCGGATATGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCCCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAATAAGAGGGAAACTCCATCTCAAAAAAAAAAAAAAAAGAGAGAGAGAGAGAGAGATCGAAGTATTTATGATGGCTTCAGATCAATGTTTTCCTAGAAACTGGAACCCAGCAGACCCCACTGAAGCCCTCCTTTCTCTTGCTCTCCTGCGCCTCTCCTACACTGCCCCCTGCCCTTGGCTGAGCTCTGAGACTGACAGCCCCGCTTCTCCCTCACCCCAGACTGCGGCATGAATGTGCACCATAAATGCCGGGAGAAGGTGGCCAACCTCTGCGGCATCAACCAGAAGCTTTTGGCTGAGGCCTTGAACCAAGTCACCCAGGTGGGCAGGTGCCATGGGGACCCTGGACACAGGGCAGTGGGGTCAGGGACAGTCAAGGCTTACAGCCACTGCTGGGGAGCCACAGACAGCCAGGATATATTTAGACCCAGGACTCTACTTCGGGAAGATGCAACTCAAGAATTTAGGCAGCAGAGGGAGGGGGGCTTTTTTTCATAAGAAATTCATTATTCAGGCAGTTCTTTACTTGAGGGTGAACCTGGGGACCACAGGAGTGGGTGTTGGAACACTTTGAACTAAGACTTTGGGTGTGGACGTTTGTATGTGGGGGGGGCTTGAGGGATGCCACAAAACCTAAAGGTAAAATTTTAGAATCAATCAGAAATGAAGCTAAATAGTCAAATAAAATCTATCGAGTGAGTGGTTGGGAAGGTAGGGTTCCGTTTACAAAACTTCTGTTTGTAATCAGAGCCTTTCAGACCACCAAGGCTTCTCTGGGCTCCTGGAAGAGTGCGTGTGTGTACACGCAGCCCGAGTAGGGGGCCTGGGCTGTGCCCCTGTTGTCTCCTCTTGGTGTTAAGGGTGGAGTTATACCTGGGAGTCTTCCTTCTGGGCTGGGAGTTCTGATAATGGTCTGACCATCTGGCCCCCCACCTCTGCTCCCTCCCCAGAGAGCCTCCCGGAGATCAGACTCAGCCTCCTCAGAGCCTGTTGGGATATATCAGGGTTTCGAGAAGAAGACCGGAGTTGCTGGGGAGGACATGCAAGGTGAAGCTGGGTCCATTGCCCCATTACGGTTTTTATTCCCCCTGAGGCCAAAGAAAGGGGACTGTCCTCCCTTCCATTGTCAAGTGAGACATGGAAGGAACCACCGGTCCTGGGGAGCGAGCCCCTTCCTCTCTGAGGCCCCTTCCCCCAGCCTACCCCAGGCCCCGGGGGAGGGGAGTTGTGTAGACTGAGACCCCGATCTGAGGAGGTGCCATCTCTCGGGCAGACAACAGTGGGACCTACGGCAAGATCTGGGAGGGCAGCAGCAAGTGCAACATCAACAACTTCATCTTCCACAAGGTCCTGGGCAAAGGCAGCTTCGGGAAGGTGAGGGCTGTGAGCCGGGCACCTGCTTCCCACCCCACCCTGGCTTCTTCCCGCTTAGGTGGCTGAGGTGGGAGTCTGTGAATCGGGCTGTGGCCCCTGCCCCGTCCTCACCTGCTCAGCACCCGTGTCTCCCCATCAGGTGCTGCTTGGAGAGCTGAAGGGCAGAGGAGAGTACTTTGCCATCAAGGCCCTCAAGAAGGATGTGGTCCTGATCGACGACGACGTGGAGTGCACCATGGTTGAGAAGCGGGTGCTGACACTTGCCGCAGAGAATCCCTTTCTCACCCACCTCATCTGCACCTTCCAGACCAAGGTGCCCGGGCCTCCTGCCGTCACCACCCCATGCCACAGCCATGTCCCACAGCTCCTCAGCCCCCCTCAGTCAGGGCTGTGTCTCCCCTTCAGGCCACTTAAGGCAGGGCCATGCTTTCCCCCCCTCATGCCTCCCAGGGCAGAGTCGTCCACCTCAGCCAGGGCCTGTCCCTGCTGTTTCCTGTTGGGGCTTGGCCCCAGTGGCCCTCAGTGAGGGAGCCTCCTGCCTATTCCTCACCCCTGCTCACCACCCTTCCCACCCCAGGACCACCTGTTCTTTGTGATGGAGTTCCTCAACGGGGGGGACCTGATGTACCACATCCAGGACAAAGGCCGCTTTGAACTCTACCGTGCCACGTACGTAAGGGCCATGGTGGGGAAGGGCCCAGTGTGGAGGAAGGGCTACTGGCTCAGAGCCCACTTCCAGTCTGCCCTCCATGCCTTCTTCCCTCTCCCTAGAAAAGCCAGCCTGGGCTAGAGCGGCAACTGGGGAGATGTGGGGGTAGCCTGGGTCGGCACCACACAGGAAGCCATGGGTGGCAAGTGAACTGCGGCTGGGTGCGCAGCGCAAATACTCTGGGTCCTGGCCGCTCCGTGGGCCACAGCCAGGGCAGCCTTGCAAATGGTGGTCCTGCATGACACAGGACACAGGACCCTGGTGCGTGGCCCCCAGACCTGCTTCTCCCCATTCACATGCCCCTTACCCCAAACTAACCGTGTATGTGTGTGTGTGTGTGTGCATGCATGCAAACACATATGTACATGCATGTAAATGCATACACTCTTAGAGAATTGGCTCACTGAGAGCTTTCCCTTCAGAACTTTCTGCCTGGGCTGCCAGCCCCCACTTGCCTGATACAAGATGTACTTGATCATGCTCAGGTGGTCCATGGAGTTATTTGCAGCATTTCTTGCTCCTGGAAGTGGGGTTGAGGGCCCGAGGAGAAGCAGAGGCTGCTCGGCAGAGATCCCGGAACACTTTATCCCTCTCTCTTGCCCAGGTTTTATGCCGCTGAGATAATGTGTGGACTGCAGTTTCTACACAGCAAGGGCATCATTTACAGGTGCGGGGGTGAGGGCAGCGGGGGCTCTTGGGAGGGGAGGCTCCAGCCCCATCATATCTTCTGAAATGCTCCAAGCAGGATCCCCCCAACTCCAGTTCCTTCTCTGCTGGAAATCAATCTTTAGCTGGGTATTTGCCTATGCCTCCCACCCTGGTGTTAGCATTCCTGTGGCCACCATTTGAGGCTGGCTCAGCTTCAGGAACTAGGAACTCACTGCTCATATTTGACACCATCGCCCCACCCATCCTTGGAGCCGTCAGTCTCGCTCTGAAGCCCCATCGAGTCATCTAAGCTTCTGCCAGAAGGGACTCCTTCCATAAAGTCTCATCTAATAAGTTATGATTCCATCCTATGGTGGGAACTGTACACCCACCAAAAAGGCTGAGGTCAGGCTCTGTATACTGATGTGGGATAATGCCAAGATATGTTGTTAAGTGGAAAAACAACCTGTGGGAAAGTGTATATCGAATATTAGCATTCAGCCTTTAAAACGTGGGAGGGAGACTGAGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAGTTAGCTGGGCATGGTGGTGGATGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGTGTGACAGAATGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTGGGAGCGAGCTGCATGCTGCCATATGCTTGTCCACGCCTAGAATTGCTCTAAGGAGAGCCTCATGATTGAGCTCAGTGGAAGGTAGACTTTGTACTGTTTGCCATTTCTAGTTCCCATATGCATTAAGTATATACTCAAATGACTAATTACTAAATATAGACATGGTCTCTGCCTGTGGGAAGTAGACAAACCTGAACCTGGGGGTCACTTCTGCTGCTGACTGCTAGGGGACCCTGGGCGAGTGACATCACCTGTTTGAGCCCCATTTGGGCTTCAGGAAGTAGG
benign
70,054
A genetic alteration at chromosome 3, position 53186747, in gene PRKCD (protein kinase C delta)—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
AGAGAGAGAGATCGAAGTATTTATGATGGCTTCAGATCAATGTTTTCCTAGAAACTGGAACCCAGCAGACCCCACTGAAGCCCTCCTTTCTCTTGCTCTCCTGCGCCTCTCCTACACTGCCCCCTGCCCTTGGCTGAGCTCTGAGACTGACAGCCCCGCTTCTCCCTCACCCCAGACTGCGGCATGAATGTGCACCATAAATGCCGGGAGAAGGTGGCCAACCTCTGCGGCATCAACCAGAAGCTTTTGGCTGAGGCCTTGAACCAAGTCACCCAGGTGGGCAGGTGCCATGGGGACCCTGGACACAGGGCAGTGGGGTCAGGGACAGTCAAGGCTTACAGCCACTGCTGGGGAGCCACAGACAGCCAGGATATATTTAGACCCAGGACTCTACTTCGGGAAGATGCAACTCAAGAATTTAGGCAGCAGAGGGAGGGGGGCTTTTTTTCATAAGAAATTCATTATTCAGGCAGTTCTTTACTTGAGGGTGAACCTGGGGACCACAGGAGTGGGTGTTGGAACACTTTGAACTAAGACTTTGGGTGTGGACGTTTGTATGTGGGGGGGGCTTGAGGGATGCCACAAAACCTAAAGGTAAAATTTTAGAATCAATCAGAAATGAAGCTAAATAGTCAAATAAAATCTATCGAGTGAGTGGTTGGGAAGGTAGGGTTCCGTTTACAAAACTTCTGTTTGTAATCAGAGCCTTTCAGACCACCAAGGCTTCTCTGGGCTCCTGGAAGAGTGCGTGTGTGTACACGCAGCCCGAGTAGGGGGCCTGGGCTGTGCCCCTGTTGTCTCCTCTTGGTGTTAAGGGTGGAGTTATACCTGGGAGTCTTCCTTCTGGGCTGGGAGTTCTGATAATGGTCTGACCATCTGGCCCCCCACCTCTGCTCCCTCCCCAGAGAGCCTCCCGGAGATCAGACTCAGCCTCCTCAGAGCCTGTTGGGATATATCAGGGTTTCGAGAAGAAGACCGGAGTTGCTGGGGAGGACATGCAAGGTGAAGCTGGGTCCATTGCCCCATTACGGTTTTTATTCCCCCTGAGGCCAAAGAAAGGGGACTGTCCTCCCTTCCATTGTCAAGTGAGACATGGAAGGAACCACCGGTCCTGGGGAGCGAGCCCCTTCCTCTCTGAGGCCCCTTCCCCCAGCCTACCCCAGGCCCCGGGGGAGGGGAGTTGTGTAGACTGAGACCCCGATCTGAGGAGGTGCCATCTCTCGGGCAGACAACAGTGGGACCTACGGCAAGATCTGGGAGGGCAGCAGCAAGTGCAACATCAACAACTTCATCTTCCACAAGGTCCTGGGCAAAGGCAGCTTCGGGAAGGTGAGGGCTGTGAGCCGGGCACCTGCTTCCCACCCCACCCTGGCTTCTTCCCGCTTAGGTGGCTGAGGTGGGAGTCTGTGAATCGGGCTGTGGCCCCTGCCCCGTCCTCACCTGCTCAGCACCCGTGTCTCCCCATCAGGTGCTGCTTGGAGAGCTGAAGGGCAGAGGAGAGTACTTTGCCATCAAGGCCCTCAAGAAGGATGTGGTCCTGATCGACGACGACGTGGAGTGCACCATGGTTGAGAAGCGGGTGCTGACACTTGCCGCAGAGAATCCCTTTCTCACCCACCTCATCTGCACCTTCCAGACCAAGGTGCCCGGGCCTCCTGCCGTCACCACCCCATGCCACAGCCATGTCCCACAGCTCCTCAGCCCCCCTCAGTCAGGGCTGTGTCTCCCCTTCAGGCCACTTAAGGCAGGGCCATGCTTTCCCCCCTCATGCCTCCCAGGGCAGAGTCGTCCACCTCAGCCAGGGCCTGTCCCTGCTGTTTCCTGTTGGGGCTTGGCCCCAGTGGCCCTCAGTGAGGGAGCCTCCTGCCTATTCCTCACCCCTGCTCACCACCCTTCCCACCCCAGGACCACCTGTTCTTTGTGATGGAGTTCCTCAACGGGGGGGACCTGATGTACCACATCCAGGACAAAGGCCGCTTTGAACTCTACCGTGCCACGTACGTAAGGGCCATGGTGGGGAAGGGCCCAGTGTGGAGGAAGGGCTACTGGCTCAGAGCCCACTTCCAGTCTGCCCTCCATGCCTTCTTCCCTCTCCCTAGAAAAGCCAGCCTGGGCTAGAGCGGCAACTGGGGAGATGTGGGGGTAGCCTGGGTCGGCACCACACAGGAAGCCATGGGTGGCAAGTGAACTGCGGCTGGGTGCGCAGCGCAAATACTCTGGGTCCTGGCCGCTCCGTGGGCCACAGCCAGGGCAGCCTTGCAAATGGTGGTCCTGCATGACACAGGACACAGGACCCTGGTGCGTGGCCCCCAGACCTGCTTCTCCCCATTCACATGCCCCTTACCCCAAACTAACCGTGTATGTGTGTGTGTGTGTGTGCATGCATGCAAACACATATGTACATGCATGTAAATGCATACACTCTTAGAGAATTGGCTCACTGAGAGCTTTCCCTTCAGAACTTTCTGCCTGGGCTGCCAGCCCCCACTTGCCTGATACAAGATGTACTTGATCATGCTCAGGTGGTCCATGGAGTTATTTGCAGCATTTCTTGCTCCTGGAAGTGGGGTTGAGGGCCCGAGGAGAAGCAGAGGCTGCTCGGCAGAGATCCCGGAACACTTTATCCCTCTCTCTTGCCCAGGTTTTATGCCGCTGAGATAATGTGTGGACTGCAGTTTCTACACAGCAAGGGCATCATTTACAGGTGCGGGGGTGAGGGCAGCGGGGGCTCTTGGGAGGGGAGGCTCCAGCCCCATCATATCTTCTGAAATGCTCCAAGCAGGATCCCCCCAACTCCAGTTCCTTCTCTGCTGGAAATCAATCTTTAGCTGGGTATTTGCCTATGCCTCCCACCCTGGTGTTAGCATTCCTGTGGCCACCATTTGAGGCTGGCTCAGCTTCAGGAACTAGGAACTCACTGCTCATATTTGACACCATCGCCCCACCCATCCTTGGAGCCGTCAGTCTCGCTCTGAAGCCCCATCGAGTCATCTAAGCTTCTGCCAGAAGGGACTCCTTCCATAAAGTCTCATCTAATAAGTTATGATTCCATCCTATGGTGGGAACTGTACACCCACCAAAAAGGCTGAGGTCAGGCTCTGTATACTGATGTGGGATAATGCCAAGATATGTTGTTAAGTGGAAAAACAACCTGTGGGAAAGTGTATATCGAATATTAGCATTCAGCCTTTAAAACGTGGGAGGGAGACTGAGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAGTTAGCTGGGCATGGTGGTGGATGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGTGTGACAGAATGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTGGGAGCGAGCTGCATGCTGCCATATGCTTGTCCACGCCTAGAATTGCTCTAAGGAGAGCCTCATGATTGAGCTCAGTGGAAGGTAGACTTTGTACTGTTTGCCATTTCTAGTTCCCATATGCATTAAGTATATACTCAAATGACTAATTACTAAATATAGACATGGTCTCTGCCTGTGGGAAGTAGACAAACCTGAACCTGGGGGTCACTTCTGCTGCTGACTGCTAGGGGACCCTGGGCGAGTGACATCACCTGTTTGAGCCCCATTTGGGCTTCAGGAAGTAGGGCAGTGTATGCCCAGCGTTTAGCACACAGTAGGGGACTTGCAAGAAGCACCTGTTTTTAGGATCTCTTTCTCCTTCTGCTTCCTTTTCTGTTTCTCATTCCCTTGTACCCTTGGGGACAGTCCTGGACTAATACGGCTGAAAATTAGGACATGGGGGGCAGGGTTGGAAGGAGAAGAAATGTCCCCTGCTGACTCTTACCTGTCCCCTGTCCTTAGGGACCTCAAACTGGACAATGTGCTGCTGGACCGGGATGGCCACATCAAGATTGCCGACTTTGGGATGTGCAAAGA
AGAGAGAGAGATCGAAGTATTTATGATGGCTTCAGATCAATGTTTTCCTAGAAACTGGAACCCAGCAGACCCCACTGAAGCCCTCCTTTCTCTTGCTCTCCTGCGCCTCTCCTACACTGCCCCCTGCCCTTGGCTGAGCTCTGAGACTGACAGCCCCGCTTCTCCCTCACCCCAGACTGCGGCATGAATGTGCACCATAAATGCCGGGAGAAGGTGGCCAACCTCTGCGGCATCAACCAGAAGCTTTTGGCTGAGGCCTTGAACCAAGTCACCCAGGTGGGCAGGTGCCATGGGGACCCTGGACACAGGGCAGTGGGGTCAGGGACAGTCAAGGCTTACAGCCACTGCTGGGGAGCCACAGACAGCCAGGATATATTTAGACCCAGGACTCTACTTCGGGAAGATGCAACTCAAGAATTTAGGCAGCAGAGGGAGGGGGGCTTTTTTTCATAAGAAATTCATTATTCAGGCAGTTCTTTACTTGAGGGTGAACCTGGGGACCACAGGAGTGGGTGTTGGAACACTTTGAACTAAGACTTTGGGTGTGGACGTTTGTATGTGGGGGGGGCTTGAGGGATGCCACAAAACCTAAAGGTAAAATTTTAGAATCAATCAGAAATGAAGCTAAATAGTCAAATAAAATCTATCGAGTGAGTGGTTGGGAAGGTAGGGTTCCGTTTACAAAACTTCTGTTTGTAATCAGAGCCTTTCAGACCACCAAGGCTTCTCTGGGCTCCTGGAAGAGTGCGTGTGTGTACACGCAGCCCGAGTAGGGGGCCTGGGCTGTGCCCCTGTTGTCTCCTCTTGGTGTTAAGGGTGGAGTTATACCTGGGAGTCTTCCTTCTGGGCTGGGAGTTCTGATAATGGTCTGACCATCTGGCCCCCCACCTCTGCTCCCTCCCCAGAGAGCCTCCCGGAGATCAGACTCAGCCTCCTCAGAGCCTGTTGGGATATATCAGGGTTTCGAGAAGAAGACCGGAGTTGCTGGGGAGGACATGCAAGGTGAAGCTGGGTCCATTGCCCCATTACGGTTTTTATTCCCCCTGAGGCCAAAGAAAGGGGACTGTCCTCCCTTCCATTGTCAAGTGAGACATGGAAGGAACCACCGGTCCTGGGGAGCGAGCCCCTTCCTCTCTGAGGCCCCTTCCCCCAGCCTACCCCAGGCCCCGGGGGAGGGGAGTTGTGTAGACTGAGACCCCGATCTGAGGAGGTGCCATCTCTCGGGCAGACAACAGTGGGACCTACGGCAAGATCTGGGAGGGCAGCAGCAAGTGCAACATCAACAACTTCATCTTCCACAAGGTCCTGGGCAAAGGCAGCTTCGGGAAGGTGAGGGCTGTGAGCCGGGCACCTGCTTCCCACCCCACCCTGGCTTCTTCCCGCTTAGGTGGCTGAGGTGGGAGTCTGTGAATCGGGCTGTGGCCCCTGCCCCGTCCTCACCTGCTCAGCACCCGTGTCTCCCCATCAGGTGCTGCTTGGAGAGCTGAAGGGCAGAGGAGAGTACTTTGCCATCAAGGCCCTCAAGAAGGATGTGGTCCTGATCGACGACGACGTGGAGTGCACCATGGTTGAGAAGCGGGTGCTGACACTTGCCGCAGAGAATCCCTTTCTCACCCACCTCATCTGCACCTTCCAGACCAAGGTGCCCGGGCCTCCTGCCGTCACCACCCCATGCCACAGCCATGTCCCACAGCTCCTCAGCCCCCCTCAGTCAGGGCTGTGTCTCCCCTTCAGGCCACTTAAGGCAGGGCCATGCTTTCCCCCCTCATGCCTCCCAGGGCAGAGTCGTCCACCTCAGCCAGGGCCTGTCCCTGCTGTTTCCTGTTGGGGCTTGGCCCCAGTGGCCCTCAGTGAGGGAGCCTCCTGCCTATTCCTCACCCCTGCTCACCACCCTTCCCACCCCAGGACCACCTGTTCTTTGTGATGGAGTTCCTCAACGGGGGGGACCTGATGTACCACATCCAGGACAAAGGCCGCTTTGAACTCTACCGTGCCACGTACGTAAGGGCCATGGTGGGGAAGGGCCCAGTGTGGAGGAAGGGCTACTGGCCACTTCCAGTCTGCCCTCCATGCCTTCTTCCCTCTCCCTAGAAAAGCCAGCCTGGGCTAGAGCGGCAACTGGGGAGATGTGGGGGTAGCCTGGGTCGGCACCACACAGGAAGCCATGGGTGGCAAGTGAACTGCGGCTGGGTGCGCAGCGCAAATACTCTGGGTCCTGGCCGCTCCGTGGGCCACAGCCAGGGCAGCCTTGCAAATGGTGGTCCTGCATGACACAGGACACAGGACCCTGGTGCGTGGCCCCCAGACCTGCTTCTCCCCATTCACATGCCCCTTACCCCAAACTAACCGTGTATGTGTGTGTGTGTGTGTGCATGCATGCAAACACATATGTACATGCATGTAAATGCATACACTCTTAGAGAATTGGCTCACTGAGAGCTTTCCCTTCAGAACTTTCTGCCTGGGCTGCCAGCCCCCACTTGCCTGATACAAGATGTACTTGATCATGCTCAGGTGGTCCATGGAGTTATTTGCAGCATTTCTTGCTCCTGGAAGTGGGGTTGAGGGCCCGAGGAGAAGCAGAGGCTGCTCGGCAGAGATCCCGGAACACTTTATCCCTCTCTCTTGCCCAGGTTTTATGCCGCTGAGATAATGTGTGGACTGCAGTTTCTACACAGCAAGGGCATCATTTACAGGTGCGGGGGTGAGGGCAGCGGGGGCTCTTGGGAGGGGAGGCTCCAGCCCCATCATATCTTCTGAAATGCTCCAAGCAGGATCCCCCCAACTCCAGTTCCTTCTCTGCTGGAAATCAATCTTTAGCTGGGTATTTGCCTATGCCTCCCACCCTGGTGTTAGCATTCCTGTGGCCACCATTTGAGGCTGGCTCAGCTTCAGGAACTAGGAACTCACTGCTCATATTTGACACCATCGCCCCACCCATCCTTGGAGCCGTCAGTCTCGCTCTGAAGCCCCATCGAGTCATCTAAGCTTCTGCCAGAAGGGACTCCTTCCATAAAGTCTCATCTAATAAGTTATGATTCCATCCTATGGTGGGAACTGTACACCCACCAAAAAGGCTGAGGTCAGGCTCTGTATACTGATGTGGGATAATGCCAAGATATGTTGTTAAGTGGAAAAACAACCTGTGGGAAAGTGTATATCGAATATTAGCATTCAGCCTTTAAAACGTGGGAGGGAGACTGAGCGCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAATACAAAAGTTAGCTGGGCATGGTGGTGGATGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGTGTGACAGAATGAGACTGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTGGGAGCGAGCTGCATGCTGCCATATGCTTGTCCACGCCTAGAATTGCTCTAAGGAGAGCCTCATGATTGAGCTCAGTGGAAGGTAGACTTTGTACTGTTTGCCATTTCTAGTTCCCATATGCATTAAGTATATACTCAAATGACTAATTACTAAATATAGACATGGTCTCTGCCTGTGGGAAGTAGACAAACCTGAACCTGGGGGTCACTTCTGCTGCTGACTGCTAGGGGACCCTGGGCGAGTGACATCACCTGTTTGAGCCCCATTTGGGCTTCAGGAAGTAGGGCAGTGTATGCCCAGCGTTTAGCACACAGTAGGGGACTTGCAAGAAGCACCTGTTTTTAGGATCTCTTTCTCCTTCTGCTTCCTTTTCTGTTTCTCATTCCCTTGTACCCTTGGGGACAGTCCTGGACTAATACGGCTGAAAATTAGGACATGGGGGGCAGGGTTGGAAGGAGAAGAAATGTCCCCTGCTGACTCTTACCTGTCCCCTGTCCTTAGGGACCTCAAACTGGACAATGTGCTGCTGGACCGGGATGGCCACATCAAGATTGCCGACTTTGGGATGTGCAAAGANNNNNNNN
benign
70,057
Evaluate the clinical significance of the mutation at chromosome 3, position 53673802 in gene CACNA1D (calcium voltage-gated channel subunit alpha1 D): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Sinoatrial_node_dysfunction_and_deafness']
TCCCTATTTGGCTTCTCGAGGCAAACATTGTGAAATGCACGAGCCTCATTCTGTAAAGTTAAAACCTGGAGCCAGATCATATGCAGGAAAGCACATGCTTAACACCCTAAGGGCTTGCACCTGCAAGGCAAGAGCGATGGCTCTATCCAGACTGTTTGCAGTTCTCATTGGCTGAAAATTCTGGGTGTTGTGGCAGGGTCATACCTTGGGCCATCCATTCTGTCCCCTGACTGGTTCTTAACACCTCCTTCCTGGGAAAGGTGTTTTGCTGAATTTAACATTGACCTGTGCTGCTGGAAAGTTCCATCCAGCTGTGATCCTTAAAGCCCTGTTTGCTCTAGCTTCCTTTGGCCAGGTCTGCCAGGGAGACTGTGTCTGAATGTGCAGCATGAGCTTGTCCGGGAATAGGGGAATGGGGTTCCTCAGGCCACACCCTTTCACCTCTAAACCCAGTCAGCTCACAGCTGGAGCCAGTCTCCCAGGGGGGTCATCTAGATCAAAGCTAAGTGTGGAGAATAAGGGCTGCTTCTCCTTTCTGTGGGTGCAGCTAAGAAAAAGCCCATTCCCCAAAGAGCCCGTGGCTTGTGTCAGCTAGTTGACCTTGAAAAAATTTCTTTTTCACATTCATTTTGCTGCATTCATTTTGTTTGCACTCACAGGTTGCAGATAATCCAGATCTAAGGTGGGTTTGGTTTCCTTGGGTAGGTTGGTTTCCAGTAGAAGATTATTTTAGGAGTTTTTAAAAAGAGTTTATAGAGTCAGATGGTACAAGTTTGTCTCTATAATTAAGACTTTTCCACCATCACAAACTTTAAACACAAAGTCTAAAATCTTGGGCAGCATAGAAAATAGGTTCTAGCTAAGCAGGAGTTTTGTCCTCTACCAAGACCTTTCCTGAAAATCACTTATCAAGACAGTTTCCTGTAAGAAAAAGCCATATCCCAGCTGATTTTCCTTCCTGGGGCCAAAATCTGCTATTATTCGGCCTGAAAGCCTTGATGACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGATGCTTGTGTGTGTGTATGGGGAATATGTGATTAATGTGTGTTGGCTGCTGTTGTCTCTGATTTGGCTACTGTTGTTTCTGATTTAAATCTAAGTAAATGTTTAATTAAATGTATAGAATGCTGTCTCTAATGTGACCCTCTCTCCTTATTAAATCCTCTTATTAACCCACTCCTATGAGACCATCTTATTTCTTGCAGATGAATGATGCTATGGGATTTGAATTGCCCTGGGTGTATTTTGTCAGTCTCGTCATCTTTGGGTCATTTTTCGTACTAAATCTTGTACTTGGTGTATTGAGCGGGTAAGCTACACCTCTTTCATCTTGAAAGCAGAGTCCTGAGGACAGTTGCCAAGACCACACAAGCTTTGCTGGATGAGGGCCGCCAAGAGGGGTTGCCAGACATTTTATGTGTCCTCTGAGATGCTTTCTTTTCTGCTGAGGCTTCCCAAATCAAGCTGTTTCCTGGAACCTCACCAGGCTTCATGAAGGAGAACTATAGAACGATTATTGACCAGAAATTAATCAGCATTGTTGCTTGAGATTTAAACAATTTCCATAGCATGCCCTTTTTTTGTCTGTTCTAAAGTGAGATACATTTATAATTGCTTTATTTGTCTGGATCCAAATATAATGCAGATTAATTGTTATAAAACGATAGCAAAATGAGCTGGATTGGGTGGGCTTTTGGTAGTCCCCATTTGTAGATTTCAGCCGCTGAGCTTGTCCTTATTTGCAGAAAAAAAAAAAAAAAGGGAAGGACCTAGGCCCAGTCCCTGTCCTAGGAGCACTAACCTTCAGCAAAGCACTGAGAGGTTTGGCAGCTGCAACTGGGGCTCTGCTCTTTAGTAAATGGATAACTGATAACTGATCTCCTTACATTTTACAGGTAAATGATGCGATAGGATGGGAATGGCCATGGGTGTATTTTGTTAGTCTGATCATCCTTGGCTCATTTTTCGTCCTTAACCTGGTTCTTGGTGTCCTTAGTGGGTAAGCAGTCGGATCCGTGTTGCACCTTCTCCTGCTGCCACGTGTGAGGCAACTCTGCGTGTCTCCTAGCTGCTCCCTGACAGCTTCTCTGCATGTGTTTGGACTCTGATGTCCTCTCAGTGTGTTGCTTTTGGATTGAACTGTGATTCTTTCTGCCTGTATCTGTCTGTGAGATTCCGTGTTTCCAATGCTTGCCAAACACTGTTAATTTAATGAAAACGTTCCCCCAAAGCCAGTTGTGTTAGTATGTGAACGTGTAGAGGTGGATTACAAGTGAGTTAAAGGAATTCCAGCCTTGGTCTCCCCCAGGAAAGAGGCTTTTGTCCCTTGTCATTTTGTGTCTATTAGTACATAACTCCTTGTCGTTTTGTGTCTATTAGTACATAACCTGGCCCCTTTAGGTCACCACAGTGCATTATAAATACTTCCAGGGGAGTTTTAGATTTTACTGTGAAGGAGAAATAAGCCTCAAGCACATAAATACTGGACAGTTTCAAAATCTTCCTTAGATTGGGATTCTTTATTAGCTTGGTGTTCTAGTGCTGTCATTGTGAGAACTGTCCCTGTGATTCAGTTTTAACCGAAACTTACAGAATCCTTCTCTTAATGCAGAGTGATGATCGACTTTTGTGCACACATTTCCCATGGCCTTACAGAGACCCCGTCATTCAGTCACGATTTTTGAAGTTTGCTTGTTTATCACTTCCTCTCTATGGATTGACTCTCCATAAAGAGGGTGCAACAGATTCTGGCCTGGAAAGGGAACTCCTTATGTTGCAGGCTCTGCCTTGCCCGTAGCTGGAGATGCCATCCCAGAACCCTTGTGGGCAGCCCTGCATCCACACCGCCTCTCAGACACCCCCAGAAGGTGGGGTGCTACAGAGAAGGGAGCTGGGGGCTGTATGGCTCTCTCACAATCAGCTCCTTCATACAGCCATTGCCGGGTTGTGGGGGGCAGGCAGGATACCAGGAGGCCAAGAGGGGCCCACGTCTCCCAGAGGAGCCTCTGTCACTGCGCTGCGCCCAGGCACCCTCAGGAAGTAGTGTTGATGGATTTGATTCCAGGCAAGTTTATCTCCTCCTCACTCACTTTATCTTGCTCTTTCCGAGGCTGTATCTCGGGGAAGTGATGTCTTCATGTATGCTGAGTTAGTGAAAGGCTTTAATCGCATTTTTGGAAACACTGCCTTTTCCAGAGCAGAAAGCAGAGTGCGTTTATCCATCTCGGCTTCCTTTCTGCATCTTCCCCTAAACCTGCCCTGGATTGAATGTAGTCAGTTCCACACCAGGGACGCATACTGTCACAGGAAGTCCCTATGTAGAGTTGGCCCAGGGGCCAGTGCCCGCCAGAGAGAGGAGTGGGGGCTGAGCCTGGGATGGGGCCACATAACCCTCCCCTGCCTGAGCCGCCTCCTGTAGATGAGTGGCTCCTCAAGCCTCCGGCCCTTCCACCTCAACGTGAGAAGTGTCTCTCTCCTAGTAAACCTCAGTGGCCTTAGGCTAGGGTTGGACATGTGAGGGTGGTGTCTATTCCTGGAGAAATAACATCGCATTTGATTTTGCCACAGGAGCTTTCTATACAAGGTTAACAGCAATCCTGTTGTGAATTCCTTGGCGCCTCATGTCTCCTAAACCCAGCTAAACTGACGGAGGCCATGGAAACCACTAATTTTAACAGTGCCGGTGACATCCCTTATCTTTTAGCTTTCCCAGGCAGGAACCGTTGCCCCAGCAGACATGATGAAGTAGAGGCAGGAGCCAGATCGTGAGGTGCTTAAAAAAAGAAAAGAGAAAAAGATGGGCGGGGGGGCTTCCCACTATCACAAATGGGGATTAAACCTGCAACTCCGTGGGAGGTACCCAAAGCTGGAGGATAAAAAAGGTACACTCCTTCATGGAACAACCAGTTTACTGAAATATATTTTGGGGGGAAATAATTTTTTTAAAAAATATTTTTTCATCAAAACAAAACTTAGATCCCTGATGGAGGAGACTGGAAATGACACATGAAATTATAAAAGAAAACCCGAGAC
TCCCTATTTGGCTTCTCGAGGCAAACATTGTGAAATGCACGAGCCTCATTCTGTAAAGTTAAAACCTGGAGCCAGATCATATGCAGGAAAGCACATGCTTAACACCCTAAGGGCTTGCACCTGCAAGGCAAGAGCGATGGCTCTATCCAGACTGTTTGCAGTTCTCATTGGCTGAAAATTCTGGGTGTTGTGGCAGGGTCATACCTTGGGCCATCCATTCTGTCCCCTGACTGGTTCTTAACACCTCCTTCCTGGGAAAGGTGTTTTGCTGAATTTAACATTGACCTGTGCTGCTGGAAAGTTCCATCCAGCTGTGATCCTTAAAGCCCTGTTTGCTCTAGCTTCCTTTGGCCAGGTCTGCCAGGGAGACTGTGTCTGAATGTGCAGCATGAGCTTGTCCGGGAATAGGGGAATGGGGTTCCTCAGGCCACACCCTTTCACCTCTAAACCCAGTCAGCTCACAGCTGGAGCCAGTCTCCCAGGGGGGTCATCTAGATCAAAGCTAAGTGTGGAGAATAAGGGCTGCTTCTCCTTTCTGTGGGTGCAGCTAAGAAAAAGCCCATTCCCCAAAGAGCCCGTGGCTTGTGTCAGCTAGTTGACCTTGAAAAAATTTCTTTTTCACATTCATTTTGCTGCATTCATTTTGTTTGCACTCACAGGTTGCAGATAATCCAGATCTAAGGTGGGTTTGGTTTCCTTGGGTAGGTTGGTTTCCAGTAGAAGATTATTTTAGGAGTTTTTAAAAAGAGTTTATAGAGTCAGATGGTACAAGTTTGTCTCTATAATTAAGACTTTTCCACCATCACAAACTTTAAACACAAAGTCTAAAATCTTGGGCAGCATAGAAAATAGGTTCTAGCTAAGCAGGAGTTTTGTCCTCTACCAAGACCTTTCCTGAAAATCACTTATCAAGACAGTTTCCTGTAAGAAAAAGCCATATCCCAGCTGATTTTCCTTCCTGGGGCCAAAATCTGCTATTATTCGGCCTGAAAGCCTTGATGACTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGGATGCTTGTGTGTGTGTATGGGGAATATGTGATTAATGTGTGTTGGCTGCTGTTGTCTCTGATTTGGCTACTGTTGTTTCTGATTTAAATCTAAGTAAATGTTTAATTAAATGTATAGAATGCTGTCTCTAATGTGACCCTCTCTCCTTATTAAATCCTCTTATTAACCCACTCCTATGAGACCATCTTATTTCTTGCAGATGAATGATGCTATGGGATTTGAATTGCCCTGGGTGTATTTTGTCAGTCTCGTCATCTTTGGGTCATTTTTCGTACTAAATCTTGTACTTGGTGTATTGAGCGGGTAAGCTACACCTCTTTCATCTTGAAAGCAGAGTCCTGAGGACAGTTGCCAAGACCACACAAGCTTTGCTGGATGAGGGCCGCCAAGAGGGGTTGCCAGACATTTTATGTGTCCTCTGAGATGCTTTCTTTTCTGCTGAGGCTTCCCAAATCAAGCTGTTTCCTGGAACCTCACCAGGCTTCATGAAGGAGAACTATAGAACGATTATTGACCAGAAATTAATCAGCATTGTTGCTTGAGATTTAAACAATTTCCATAGCATGCCCTTTTTTTGTCTGTTCTAAAGTGAGATACATTTATAATTGCTTTATTTGTCTGGATCCAAATATAATGCAGATTAATTGTTATAAAACGATAGCAAAATGAGCTGGATTGGGTGGGCTTTTGGTAGTCCCCATTTGTAGATTTCAGCCGCTGAGCTTGTCCTTATTTGCAGAAAAAAAAAAAAAAAGGGAAGGACCTAGGCCCAGTCCCTGTCCTAGGAGCACTAACCTTCAGCAAAGCACTGAGAGGTTTGGCAGCTGCAACTGGGGCTCTGCTCTTTAGTAAATGGATAACTGATAACTGATCTCCTTACATTTTACAGGTAAATGATGCGATAGGATGGGAATGGCCATGGGTGTATTTTGTTAGTCTGATCATCCTTGGCTCATTTTTCGTCCTTAACCTGGTTCTTGGGGGTGTCCTTAGTGGGTAAGCAGTCGGATCCGTGTTGCACCTTCTCCTGCTGCCACGTGTGAGGCAACTCTGCGTGTCTCCTAGCTGCTCCCTGACAGCTTCTCTGCATGTGTTTGGACTCTGATGTCCTCTCAGTGTGTTGCTTTTGGATTGAACTGTGATTCTTTCTGCCTGTATCTGTCTGTGAGATTCCGTGTTTCCAATGCTTGCCAAACACTGTTAATTTAATGAAAACGTTCCCCCAAAGCCAGTTGTGTTAGTATGTGAACGTGTAGAGGTGGATTACAAGTGAGTTAAAGGAATTCCAGCCTTGGTCTCCCCCAGGAAAGAGGCTTTTGTCCCTTGTCATTTTGTGTCTATTAGTACATAACTCCTTGTCGTTTTGTGTCTATTAGTACATAACCTGGCCCCTTTAGGTCACCACAGTGCATTATAAATACTTCCAGGGGAGTTTTAGATTTTACTGTGAAGGAGAAATAAGCCTCAAGCACATAAATACTGGACAGTTTCAAAATCTTCCTTAGATTGGGATTCTTTATTAGCTTGGTGTTCTAGTGCTGTCATTGTGAGAACTGTCCCTGTGATTCAGTTTTAACCGAAACTTACAGAATCCTTCTCTTAATGCAGAGTGATGATCGACTTTTGTGCACACATTTCCCATGGCCTTACAGAGACCCCGTCATTCAGTCACGATTTTTGAAGTTTGCTTGTTTATCACTTCCTCTCTATGGATTGACTCTCCATAAAGAGGGTGCAACAGATTCTGGCCTGGAAAGGGAACTCCTTATGTTGCAGGCTCTGCCTTGCCCGTAGCTGGAGATGCCATCCCAGAACCCTTGTGGGCAGCCCTGCATCCACACCGCCTCTCAGACACCCCCAGAAGGTGGGGTGCTACAGAGAAGGGAGCTGGGGGCTGTATGGCTCTCTCACAATCAGCTCCTTCATACAGCCATTGCCGGGTTGTGGGGGGCAGGCAGGATACCAGGAGGCCAAGAGGGGCCCACGTCTCCCAGAGGAGCCTCTGTCACTGCGCTGCGCCCAGGCACCCTCAGGAAGTAGTGTTGATGGATTTGATTCCAGGCAAGTTTATCTCCTCCTCACTCACTTTATCTTGCTCTTTCCGAGGCTGTATCTCGGGGAAGTGATGTCTTCATGTATGCTGAGTTAGTGAAAGGCTTTAATCGCATTTTTGGAAACACTGCCTTTTCCAGAGCAGAAAGCAGAGTGCGTTTATCCATCTCGGCTTCCTTTCTGCATCTTCCCCTAAACCTGCCCTGGATTGAATGTAGTCAGTTCCACACCAGGGACGCATACTGTCACAGGAAGTCCCTATGTAGAGTTGGCCCAGGGGCCAGTGCCCGCCAGAGAGAGGAGTGGGGGCTGAGCCTGGGATGGGGCCACATAACCCTCCCCTGCCTGAGCCGCCTCCTGTAGATGAGTGGCTCCTCAAGCCTCCGGCCCTTCCACCTCAACGTGAGAAGTGTCTCTCTCCTAGTAAACCTCAGTGGCCTTAGGCTAGGGTTGGACATGTGAGGGTGGTGTCTATTCCTGGAGAAATAACATCGCATTTGATTTTGCCACAGGAGCTTTCTATACAAGGTTAACAGCAATCCTGTTGTGAATTCCTTGGCGCCTCATGTCTCCTAAACCCAGCTAAACTGACGGAGGCCATGGAAACCACTAATTTTAACAGTGCCGGTGACATCCCTTATCTTTTAGCTTTCCCAGGCAGGAACCGTTGCCCCAGCAGACATGATGAAGTAGAGGCAGGAGCCAGATCGTGAGGTGCTTAAAAAAAGAAAAGAGAAAAAGATGGGCGGGGGGGCTTCCCACTATCACAAATGGGGATTAAACCTGCAACTCCGTGGGAGGTACCCAAAGCTGGAGGATAAAAAAGGTACACTCCTTCATGGAACAACCAGTTTACTGAAATATATTTTGGGGGGAAATAATTTTTTTAAAAAATATTTTTTCATCAAAACAAAACTTAGATCCCTGATGGAGGAGACTGGAAATGACACATGAAATTATAAAAGAAAACCCGA
pathogenic
70,113
Clinical significance of chromosome 3, position 53808664, gene CACNA1D (calcium voltage-gated channel subunit alpha1 D): benign or pathogenic? Name the disease(s) if pathogenic.
benign
TAATCAGTAACCAAAAATAGCCGTGACACATCGGCTTCTGAGTCTGCCAACTGCATATACTATAAAGAGCACCACTGGGAGGTGCCCAGGGCCCTCTGCCTCACTCCAACTGTCACAGCCCCACTGGGGAGTGTGACCAGACCCATTTCCATGGTTAATATTTAATTCCTCAGCCCTGAACACATGCAGCTAAATGAAGTCACTCCTTTCCCATAAATACTAGATGAAGCAGATGCAGGTGAGGCCGGGTGATGGCCCTCGCCCTTGTGAGTTCCACTGCCTTCCTCGGGCCTCGGCCTTTGTCTACTGCCTACTTGGCCAAGCAAGCAAGCACATGAATCCCACCAGCCACAGTGCCAGAGAGGAGCTGAGTGGGCAGGAGTGGCTGTGCTCTTGATTCATAAGGTGGTTTTGCTTTGCTGCCCCGCAGCTCAGACCTTGGACAGGAAGAACATTTCCCTCCTCCACCTGTGTTCTCAGCTGCAGGGGGATTCCCTCCTCCTCCAGAGAGTGTTGTGCAGAGCACATGAGATGGTGGGGATCCCTGGAGCATTTTAGAAATGGAAAAGCACCACATACAGGAGAGGGACCGCTGCTCTCCTTTCCCAGCCCCCAGCCCGGCCATTCGATCTGGAAACCTATGCTCCACAGCACAGTTGGCCCCTGGGTGGTGCGTGGAGGGAAGGCTTTCTGATGAGGCAGCCGTGTGTGTCCCATGTAGGCAACTGAACCAGGAGGCCCCACAGTGCGCACTGGGCACGAGAGACCAGGACTGGCTGTCTCGTTCCTCTCTGCTGGGCAGTGCCTAGCCAAGGACTCAGCCCGGTCTCTTGTGTGCAGCCCCAGTGTGCCTGGGAGTCCTCCCCTGGCTAGGCCCTGGGCTTTCCAATAGCGGAATGAGGGGCATGTGGAGTTTTGCCAGGGCTGAGAAAGGAGGCCCTGTGATCCGAGAAAAGCAGCGGTCAAGATAGGAGCCATAGAAATGCCTTGTAAACGATAGGTGTGCTCTCGACAGAGGCCCCTGCAAGGGGTAGGAGGTTTCTGGGAGGAGGCTGCTGGCTGTGTCTTAGGGCCCCAGAATTCAGACTGATCTCCCGGGCCTGGTGCCCTGTGAAGCTGGGAGCTGTGGATTGTCTTGTTAACCTCTGTGTGAGCCTCTGTTGGAAGAGCTGTTAGCAGGACAAGCATTTTCTTAAAATTAGAGGTGTCCTTTGTTTGTATTCAGTGCTAGAGAAGCTGAATCTTTCCCAACAAAAATAATTTGCTTATTACCTGGTCAAGCTGATCAGTGCAGGTAAAGTCCCTCCCTTTAAAACAGGTGTAAACACAGGAGCCCCAGCAAGATATGTCAGCTGCTGGGGACACTTAGGGTATCTGGAAGGTGACAGTGGGAAGTGTCGTGGGGTTCTGGCAGGACTTGTGTTCTTGCACTGAAGTGCTGTGCGCTCCCCACAGTATGCAGCGCCAGGGCTTCTGACTCGGATCAGTTGCCCTATGGGCTGCCTTCACTCCTCCTCCTGAGAACAGGCGAACGTTTAAAAGTAGTAAGTTCTCTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTGAAAATACAAAATAGTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCATCTCAAAAAAAAAAAAAAAGTAGTAAGTTTGTACTTTAAAAAACATCCCTCACTGGGGCTTCTGCCTTCATCCTCTCCTACTAAAGTTTGGAGACCTCACTACCTAATCTTTCTCTTGGACAAACCGCATGCTTCTTCCTGGGCTCGTTGCTGAGCATCCGGGGCCACCCTGACTCTGAAAGACGGTGTCCCGGCAGAGAACTTGCTTCACAGCTGTGTGATGCCCTTTGCTTTCCCAGCCCACCGGAGATCCTCCTTCAACTTTGAGTGCCTGCGCCGGCAGAGCAGCCAGGAAGAGGTCCCGTCGTCTCCCATCTTCCCCCATCGCACGGCCCTGCCTCTGCATCTAATGCAGCAACAGGTGAGCGGCCCACCTGGCCTTGCCCCCACACCTAGGGGCACCCCACATAGGACCCCCATCAGGTCACTCCCTTCTCCTTGGCCTTAAGCACCAGGAGGGAAGGAGAGAATCTTCACCTACAGTCTAGTTAATCTTTGTAACAATCCTGTCAAATAGCTATGGCCATGAGTCCCATGCTGCCCAAGCTCACACAAGTGACTGCTGGCATTTGAATCCAGGGAGCCAGCTGCCAAAGCTGGCCTCACTGCCCAGGTGCCTCCCTGCGATCCCCACCACCTCTTCCTGGCATTGAATACAGAGCCTGATGTGATCTGAGCTCAGGGAGTGGGGGCCACTTGGCTGATTCTGAACAAGCGGTGCAGCCCTTCATTTTCTCTAAGAAGTGGTTCCTTCATTAAGTTTATGGGTCCCTCCATGGGCAGGGCCCTGTGGGTACTATGCAGGGTTAACCTCCCCTGCCTACAAAGGGAGCAGTCTGGGGAGAACAGTTTGCCCACGTTGAGGGCGGCTGCACAGGCAAGAGGGTGGGGCCGGAGCCCACTCACTAGGGCTTTCCCTCAAGGATAACAATATGGCGCTTTTTCTTTCTGAAAATATCACATCAGAGATGCCATTCATTCGTGCACGACAGGGTGGTGGGCATGGACCTGTGCTGTTTACAGACAGCGTTCCCCGTCCCTCTCTGCAGAGTGTGAACCCCAAGGTGCATCTGCCGTGGTGGGATTGTAAGACCGGGGCTTGTACCCAGTGCTTTAGCACATGCCAAATGCCGGCTCTAGGATGCATTACTCCAGAGCAAAGAGAACCAGCTGTTTTCCTATAAGTGCTGGGAAGTGGTAGTTTCCCCTGAATGTACTTCGGTATTTAAACCCAGCATGAACTGGGTGGTGTGTTCACACCCACAGCTTGTTGGGCTTCCCTGATTCTTCATTCTGAAGCAATTTCATGAATTAGCAACTGATACCTCCTTGGGAAAAGCCAAAGGAAATGCATTATGGATTCGGGGTAAAAGAAAGCACAGTCTGCTAGAAAACAAAGTCATCACCGCCCATTCATTCAGCGTACTTCAGTGTGCCCATGTCCTTTCCAAGTCCTTGCCTGGACTGCCCCTGGCGAGCGCAGCGCCGGTGCTTGGTCTGTGCGCAGAAGGTTTGAGGCCCGGACCTCTGAGAACCTCTGGTCTCCCAACAGTCCCCTCTTTCCTCAGATCATGGCAGTTGCCGGCCTAGATTCAAGTAAAGCCCAGAAGTACTCACCGAGTCACTCGACCCGGTCGTGGGCCACCCCTCCAGCAACCCCTCCCTACCGGGACTGGACACCGTGCTACACCCCCCTGATCCAAGTGGAGCAGTCAGAGGCCCTGGACCAGGTGAACGGCAGCCTGCCGTCCCTGCACCGCAGCTCCTGGTACACAGACGAGCCCGACATCTCCTACCGGACTTTCACACCAGCCAGCCTGACTGTCCCCAGCAGCTTCCGGAACAAAAACAGCGACAAGCAGAGGAGTGCGGACAGCTTGGTGGAGGCAGTGAGTACGGTTCTTGGCCGTGGTGGGCAGGAAGCACCAGGAGCAGCAGAGGTGCAACTGTAACAGCAGGAAGGGCAGTGGTGGGAGGGCGGCCAGGCTGTGAGCTAGGCTGCCTCAATCAGACACTTCTGAGCAGCAGGAATGTACCTGAAGCATGAGTAAAAACTGGTCACCACCACTGGCTGCAGTGGCTTACGTCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGCGGCTCAAAGACCAGCCTTGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTCAGGAGGCTGCAGCAGGAGAACTGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGAT
TAATCAGTAACCAAAAATAGCCGTGACACATCGGCTTCTGAGTCTGCCAACTGCATATACTATAAAGAGCACCACTGGGAGGTGCCCAGGGCCCTCTGCCTCACTCCAACTGTCACAGCCCCACTGGGGAGTGTGACCAGACCCATTTCCATGGTTAATATTTAATTCCTCAGCCCTGAACACATGCAGCTAAATGAAGTCACTCCTTTCCCATAAATACTAGATGAAGCAGATGCAGGTGAGGCCGGGTGATGGCCCTCGCCCTTGTGAGTTCCACTGCCTTCCTCGGGCCTCGGCCTTTGTCTACTGCCTACTTGGCCAAGCAAGCAAGCACATGAATCCCACCAGCCACAGTGCCAGAGAGGAGCTGAGTGGGCAGGAGTGGCTGTGCTCTTGATTCATAAGGTGGTTTTGCTTTGCTGCCCCGCAGCTCAGACCTTGGACAGGAAGAACATTTCCCTCCTCCACCTGTGTTCTCAGCTGCAGGGGGATTCCCTCCTCCTCCAGAGAGTGTTGTGCAGAGCACATGAGATGGTGGGGATCCCTGGAGCATTTTAGAAATGGAAAAGCACCACATACAGGAGAGGGACCGCTGCTCTCCTTTCCCAGCCCCCAGCCCGGCCATTCGATCTGGAAACCTATGCTCCACAGCACAGTTGGCCCCTGGGTGGTGCGTGGAGGGAAGGCTTTCTGATGAGGCAGCCGTGTGTGTCCCATGTAGGCAACTGAACCAGGAGGCCCCACAGTGCGCACTGGGCACGAGAGACCAGGACTGGCTGTCTCGTTCCTCTCTGCTGGGCAGTGCCTAGCCAAGGACTCAGCCCGGTCTCTTGTGTGCAGCCCCAGTGTGCCTGGGAGTCCTCCCCTGGCTAGGCCCTGGGCTTTCCAATAGCGGAATGAGGGGCATGTGGAGTTTTGCCAGGGCTGAGAAAGGAGGCCCTGTGATCCGAGAAAAGCAGCGGTCAAGATAGGAGCCATAGAAATGCCTTGTAAACGATAGGTGTGCTCTCGACAGAGGCCCCTGCAAGGGGTAGGAGGTTTCTGGGAGGAGGCTGCTGGCTGTGTCTTAGGGCCCCAGAATTCAGACTGATCTCCCGGGCCTGGTGCCCTGTGAAGCTGGGAGCTGTGGATTGTCTTGTTAACCTCTGTGTGAGCCTCTGTTGGAAGAGCTGTTAGCAGGACAAGCATTTTCTTAAAATTAGAGGTGTCCTTTGTTTGTATTCAGTGCTAGAGAAGCTGAATCTTTCCCAACAAAAATAATTTGCTTATTACCTGGTCAAGCTGATCAGTGCAGGTAAAGTCCCTCCCTTTAAAACAGGTGTAAACACAGGAGCCCCAGCAAGATATGTCAGCTGCTGGGGACACTTAGGGTATCTGGAAGGTGACAGTGGGAAGTGTCGTGGGGTTCTGGCAGGACTTGTGTTCTTGCACTGAAGTGCTGTGCGCTCCCCACAGTATGCAGCGCCAGGGCTTCTGACTCGGATCAGTTGCCCTATGGGCTGCCTTCACTCCTCCTCCTGAGAACAGGCGAACGTTTAAAAGTAGTAAGTTCTCTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTGAAAATACAAAATAGTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTCCATCTCAAAAAAAAAAAAAAAGTAGTAAGTTTGTACTTTAAAAAACATCCCTCACTGGGGCTTCTGCCTTCATCCTCTCCTACTAAAGTTTGGAGACCTCACTACCTAATCTTTCTCTTGGACAAACCGCATGCTTCTTCCTGGGCTCGTTGCTGAGCATCCGGGGCCACCCTGACTCTGAAAGACGGTGTCCCGGCAGAGAACTTGCTTCACAGCTGTGTGATGCCCTTTGCTTTCCCAGCCCACCGGAGATCCTCCAACTTTGAGTGCCTGCGCCGGCAGAGCAGCCAGGAAGAGGTCCCGTCGTCTCCCATCTTCCCCCATCGCACGGCCCTGCCTCTGCATCTAATGCAGCAACAGGTGAGCGGCCCACCTGGCCTTGCCCCCACACCTAGGGGCACCCCACATAGGACCCCCATCAGGTCACTCCCTTCTCCTTGGCCTTAAGCACCAGGAGGGAAGGAGAGAATCTTCACCTACAGTCTAGTTAATCTTTGTAACAATCCTGTCAAATAGCTATGGCCATGAGTCCCATGCTGCCCAAGCTCACACAAGTGACTGCTGGCATTTGAATCCAGGGAGCCAGCTGCCAAAGCTGGCCTCACTGCCCAGGTGCCTCCCTGCGATCCCCACCACCTCTTCCTGGCATTGAATACAGAGCCTGATGTGATCTGAGCTCAGGGAGTGGGGGCCACTTGGCTGATTCTGAACAAGCGGTGCAGCCCTTCATTTTCTCTAAGAAGTGGTTCCTTCATTAAGTTTATGGGTCCCTCCATGGGCAGGGCCCTGTGGGTACTATGCAGGGTTAACCTCCCCTGCCTACAAAGGGAGCAGTCTGGGGAGAACAGTTTGCCCACGTTGAGGGCGGCTGCACAGGCAAGAGGGTGGGGCCGGAGCCCACTCACTAGGGCTTTCCCTCAAGGATAACAATATGGCGCTTTTTCTTTCTGAAAATATCACATCAGAGATGCCATTCATTCGTGCACGACAGGGTGGTGGGCATGGACCTGTGCTGTTTACAGACAGCGTTCCCCGTCCCTCTCTGCAGAGTGTGAACCCCAAGGTGCATCTGCCGTGGTGGGATTGTAAGACCGGGGCTTGTACCCAGTGCTTTAGCACATGCCAAATGCCGGCTCTAGGATGCATTACTCCAGAGCAAAGAGAACCAGCTGTTTTCCTATAAGTGCTGGGAAGTGGTAGTTTCCCCTGAATGTACTTCGGTATTTAAACCCAGCATGAACTGGGTGGTGTGTTCACACCCACAGCTTGTTGGGCTTCCCTGATTCTTCATTCTGAAGCAATTTCATGAATTAGCAACTGATACCTCCTTGGGAAAAGCCAAAGGAAATGCATTATGGATTCGGGGTAAAAGAAAGCACAGTCTGCTAGAAAACAAAGTCATCACCGCCCATTCATTCAGCGTACTTCAGTGTGCCCATGTCCTTTCCAAGTCCTTGCCTGGACTGCCCCTGGCGAGCGCAGCGCCGGTGCTTGGTCTGTGCGCAGAAGGTTTGAGGCCCGGACCTCTGAGAACCTCTGGTCTCCCAACAGTCCCCTCTTTCCTCAGATCATGGCAGTTGCCGGCCTAGATTCAAGTAAAGCCCAGAAGTACTCACCGAGTCACTCGACCCGGTCGTGGGCCACCCCTCCAGCAACCCCTCCCTACCGGGACTGGACACCGTGCTACACCCCCCTGATCCAAGTGGAGCAGTCAGAGGCCCTGGACCAGGTGAACGGCAGCCTGCCGTCCCTGCACCGCAGCTCCTGGTACACAGACGAGCCCGACATCTCCTACCGGACTTTCACACCAGCCAGCCTGACTGTCCCCAGCAGCTTCCGGAACAAAAACAGCGACAAGCAGAGGAGTGCGGACAGCTTGGTGGAGGCAGTGAGTACGGTTCTTGGCCGTGGTGGGCAGGAAGCACCAGGAGCAGCAGAGGTGCAACTGTAACAGCAGGAAGGGCAGTGGTGGGAGGGCGGCCAGGCTGTGAGCTAGGCTGCCTCAATCAGACACTTCTGAGCAGCAGGAATGTACCTGAAGCATGAGTAAAAACTGGTCACCACCACTGGCTGCAGTGGCTTACGTCTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGCGGCTCAAAGACCAGCCTTGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGTATGCCTGTAATCCCAGCTACTCAGGAGGCTGCAGCAGGAGAACTGCTTGAACCCGGGAGGTGGAGGCTGCAGTGAGCCGAGATNNN
benign
70,217
A genetic variant at chromosome 3, position 54918482, affecting gene CACNA2D3—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
benign
TGATGGGTCAGCAGGCTTTCCTTGGGGTCTTTCTTTGATCTACAATTTAAGGTATTTCAGTTTCTTTCGATATTCAGAAAAAAATTACCATCGAAATTTAAACTTTGTCCCCTAGAAAAATCATCTAGCAAAATTGCTGCTCCAGAAAGGTGGTCCATCTTTAGCCTCTGGGTGTGTGGGGCCCACACTAGCTATGAAGCACCATGGCAGGTGTAGATTGTCTCTGTGATTATTAGAGGTGCATCCGTGTGAGACCTGCACAGTAGGAAGTGATAGGTTCACCCGTTTCCCTGCATCTATCCCATACACATGTGAACCTTCCATTCACATTTCAGTTAGAGAATGGACTACTGATTTAGGATCCAAACCAATCATTACATGGCCTGAAGGAGTGAATGTAGAGCCAGTACCCTGAGTAGCAAATGTGTTTTATCCTTTGAACCAACTCCAGTTGATTAGTTCTGGTTGCCTACAGTGCTGTCTTAAGGCATCTGTGGTGCTGAGCTAGGAAGAGTGCTGAGATTGATTAGCAATGTCTGTCATGGCCTCTGGAGGGACAGCTGGCCCTATATTTGCCATTCTCTGCTTTTAACATGTCCATAACTTCTCTGTCCTCTCTTCTTGTGTAAAATGATTTTAATACTAACAGGTGACTGTGAGCATCATGAGAGAGAACAGGTAGATTCCACTTTAAGAAAACCTAGCATGAGAAAATGCAAAATTTACAAAATGCATAAATCTGGAGCCAATTATTTCTATTACAGAAAGATTCCATGAAAGGTTCCTTTAAATAGCCAGCTCCCCTACTGCATTAAAATGATGATTCAATTTACAAAAATTCACTTTGCATGCAACTCTTCAAGACCATGTCTGTGGAGTAAAGCCAGCCACACCTGATTTTTTAAAACCATGGCCTAAATAACATTGAGGATAGCTGCCGCCACCTATCTTGAGTCTCTTGGTAATTCCCACTCTCTGCAGTCTTCCTTCTTACTCCTATCCCAGTGTGGGGAGTAGACAATCTGGGTGGTGGACAACAGCTGCTGGCTTCCACCCTGACACGGCTGCATTTCATTAGTGGGTAAACTGATTGCTCAGAGTATGTTTATGTGTGGGTGTGGTTGTACAACTCTATGCACTCTGTGCGCTATGTATGCAGATACAGATACACAAAAGTCATTATCTCGCTCTCAGCCCAACCTAAATTCATTCCTGCTGTAAGAGTTATAAATGGAAGGTTCCAATCCCTTGGTGGATATGGCCTTTTGGTAATATCTGCCCCAAATTCTGGCTCCCCATCCTCTTTGTGTTTGTTTATATGTTATTTACCCTTGCATCAGAAAACTTCCCCAGACTCAGGGCCTGAGTCCTATTATCCGGACATGGAATCTTCTTCTTCCTCTGAGGCCTAGAAAGCCCCAAATGGTTTTCTGATTTAGAAAATGAAATAGACTTTGACTCTTGTGGCAAGCTATGAAATTCCCAACCAACAGCTTCCACTAAATTTATAACATATACAACATCTAAAAGTATCACTGATCTAGCATGAACTCGAATTATAGAGGCATTCAATGCCCATCGGGTAAGATCACCAGCCTCTTCCCAAGCACTCAAAATTGGGCAGTTTTCCAGTGGACCATAAAGCTCCCAGGAATGCTGATTGGCATGTGTGTTTGAATTTCTGGTGCTTTGTAAAAGGAACTTAATCCACAGAAGAGTACCTGGAAGAGATGGCATCTTCCCTTTCTCTGTGTGTGTCTTACCCCCACATAGAATCGTCGTAATAACTTCCCAGGCCCAGAGCACAAGTATCATCTTTATTTTACCTATAGTATTTTAAAAATCGCAACATAAATTCCTCCCCAGAAATATTTTTTACAGACACATCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGGCAAAAGCAAAATCAGACTAACAGGAAACACATCAGCCCTACTCAGACACTATCTTCTGGCCTGCAATGACCAATCCTATTTGAGACAAAAGCTCTCAGGCTGGTGAGCTGTCAAATCGCTCTTTTTCTTCCACCTTCCCAGGATCATTGGTTTGAGCCAAGGGTCCCCCATGGTACTGGGCTGTGATTGCCGCATAGGTGCAGCCATAGATGGCAGCTGCCAACATCATGAGACACACAATCCCACACACAACGCCAGTGATGATGACAGTGGCAATGGCATGACGCAGGTTGGCCGGCCTTGGCTTGGGTTTGAGCTCGCACTCCAAGAGTTCTCGCTCCCCCGCGTTGTGGTTCTCAGGAGGCCTCAGGACCACACCGTGGGCAGAGCCGGGCCACTGAGCCTGCGAGGACACTGGATCAGGAGCAGGAAGAGGGCAGGGCTGGTACAGCTCATGAGGGATCCTAAGGAGGTCCTTTCCCTTCCAGGTGTCTGGTGATTCACAGATGATGCCGTCTGTTAGTCCCCCTTTAAAAAACAAAAGCAAAGAACAATAACAAAGCCTTGATACAACAGAGTTCCAAAATCCTCTGCCTGCAAAAACTTAGGCAGATGGAATTTATGAAGTACCTTTTTTTTTTTTAAATCCTGGAGTCAAAGAATTTAACAACCATATTTTATGATTTTAGGATTCCTAAATTGGCTAAATACTAAAAATGCCACACACTAAATTGGCAATTACTTATGACCAAGAATTCATTAGAAGCCCAGTAACCTTCATGTTCTCTAAATGCTCAGAGAAAACAATGCAAAAGCTGACAAGAAGGCACGCTGGGGGCCGATGGTGAGGGCACAGCTGCCCACTGCATTCGTGCCACGCATGGTCCTAGTGAGCCCCACAGACAAGAAAACTTTTGTACCAGATTCCCATTGAAAATCTAAGGAAAAAATAAAATAAATGTGCATTGTTGTGATGTTATGTGTTTATTACAAAGATCCTGTGTGTCTCAACACTGTTCAGTGATGCCAAATGGAGAGGTGGAATGGTCTTGGAGTGATCTGTGGATTTGACAATACTGGAAGTTTAGTTCCTGGAATTCGGTACCATGAATGTGTCTCCTCAGGCCTCAGAACATTTACGGCTTTGAATACTGAACTTTCCAGTGGGTTATTAAACCCAGTTTCCATTACCTGTAAGGTGATTGATATCCTCAGGTGTGTAGACTGCTGTTGGTCGGGGGAATTTGGGTGGTCGGTCATTCTTTCCTAGAGAGAGCCCTGAGCTAGCAGACTGAAGTCTAGTCTAGTGTGACCACTGATTTACTCTTTGACTTTGGGAAAATGTGCTTCGCTGACTTAATTTTCTGCCATGAAAACATGCTATTTGTATCCAACTTGATGGTTTACAAAGCACTGTTAGATAAGTCCTAATACTCCACTCTTGTAGGTAACTCTTGTCCAGACTCACAGAGGTCACGAGTGGATGAAACAACATCCAAACCCAGTTCTCCATGCTCAGTCCAAGTTTTTTCCACTACACTCGCTGCCTCGCCACATCCTCCTCTCAGGAGCGTTGTGAGGTCAGAGGAGTGGGCAGGATGGCCCTCGGCACTGTCTGCTAGGAAGCCTTTTGATTGGACAGAACTGCCCCATGACCTGCACCTTGGCCCTCTCAGGCTGCCATAAGCACCTCCCCTAGGCCAGCCGAAAAGACTGGCACTGCAGTTAGCAAAGTTAGATTGGAGGAGATTCTTAGTACACACAGTAAGTGAATTAGGAAATTATACCAGAAAGACATATGTAGAGGGCATCACTTCAACATTATTAGCACCCTCCATTGCATGGCACTTCAGAGTTTTAGGAATGCTTTCACATTTACTCTCTCTAAGCTTACTACAAGATAAGTCATAAGTGGCCCTGTAAGTAGATAGGGCCTATCTTGCAGTGCAAGGATTATCAGGTGGCCCCAACACACCAGGGTGAGTGGCAGTGGCAAAATTCAACCCATGTCCTTTTTGTTGCCACTGCTTAAAACTGAATCACCCACCACCAGAGTGTCTTGGGTTCCTCCTGGCTTCTCTAGCAATCCTTTGAGGAAACAGTCCTCACCCTAAAGCAGAAAGATAAAAGGGGAATTTCTTCCTTTTTTGAGCCACTGATTTTCC
TGATGGGTCAGCAGGCTTTCCTTGGGGTCTTTCTTTGATCTACAATTTAAGGTATTTCAGTTTCTTTCGATATTCAGAAAAAAATTACCATCGAAATTTAAACTTTGTCCCCTAGAAAAATCATCTAGCAAAATTGCTGCTCCAGAAAGGTGGTCCATCTTTAGCCTCTGGGTGTGTGGGGCCCACACTAGCTATGAAGCACCATGGCAGGTGTAGATTGTCTCTGTGATTATTAGAGGTGCATCCGTGTGAGACCTGCACAGTAGGAAGTGATAGGTTCACCCGTTTCCCTGCATCTATCCCATACACATGTGAACCTTCCATTCACATTTCAGTTAGAGAATGGACTACTGATTTAGGATCCAAACCAATCATTACATGGCCTGAAGGAGTGAATGTAGAGCCAGTACCCTGAGTAGCAAATGTGTTTTATCCTTTGAACCAACTCCAGTTGATTAGTTCTGGTTGCCTACAGTGCTGTCTTAAGGCATCTGTGGTGCTGAGCTAGGAAGAGTGCTGAGATTGATTAGCAATGTCTGTCATGGCCTCTGGAGGGACAGCTGGCCCTATATTTGCCATTCTCTGCTTTTAACATGTCCATAACTTCTCTGTCCTCTCTTCTTGTGTAAAATGATTTTAATACTAACAGGTGACTGTGAGCATCATGAGAGAGAACAGGTAGATTCCACTTTAAGAAAACCTAGCATGAGAAAATGCAAAATTTACAAAATGCATAAATCTGGAGCCAATTATTTCTATTACAGAAAGATTCCATGAAAGGTTCCTTTAAATAGCCAGCTCCCCTACTGCATTAAAATGATGATTCAATTTACAAAAATTCACTTTGCATGCAACTCTTCAAGACCATGTCTGTGGAGTAAAGCCAGCCACACCTGATTTTTTAAAACCATGGCCTAAATAACATTGAGGATAGCTGCCGCCACCTATCTTGAGTCTCTTGGTAATTCCCACTCTCTGCAGTCTTCCTTCTTACTCCTATCCCAGTGTGGGGAGTAGACAATCTGGGTGGTGGACAACAGCTGCTGGCTTCCACCCTGACACGGCTGCATTTCATTAGTGGGTAAACTGATTGCTCAGAGTATGTTTATGTGTGGGTGTGGTTGTACAACTCTATGCACTCTGTGCGCTATGTATGCAGATACAGATACACAAAAGTCATTATCTCGCTCTCAGCCCAACCTAAATTCATTCCTGCTGTAAGAGTTATAAATGGAAGGTTCCAATCCCTTGGTGGATATGGCCTTTTGGTAATATCTGCCCCAAATTCTGGCTCCCCATCCTCTTTGTGTTTGTTTATATGTTATTTACCCTTGCATCAGAAAACTTCCCCAGACTCAGGGCCTGAGTCCTATTATCCGGACATGGAATCTTCTTCTTCCTCTGAGGCCTAGAAAGCCCCAAATGGTTTTCTGATTTAGAAAATGAAATAGACTTTGACTCTTGTGGCAAGCTATGAAATTCCCAACCAACAGCTTCCACTAAATTTATAACATATACAACATCTAAAAGTATCACTGATCTAGCATGAACTCGAATTATAGAGGCATTCAATGCCCATCGGGTAAGATCACCAGCCTCTTCCCAAGCACTCAAAATTGGGCAGTTTTCCAGTGGACCATAAAGCTCCCAGGAATGCTGATTGGCATGTGTGTTTGAATTTCTGGTGCTTTGTAAAAGGAACTTAATCCACAGAAGAGTACCTGGAAGAGATGGCATCTTCCCTTTCTCTGTGTGTGTCTTACCCCCACATAGAATCGTCGTAATAACTTCCCAGGCCCAGAGCACAAGTATCATCTTTATTTTACCTATAGTATTTTAAAAATCGCAACATAAATTCCTCCCCAGAAATATTTTTTACAGACACATCTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGGCAAAAGCAAAATCAGACTAACAGGAAACACATCAGCCCTACTCAGACACTATCTTCTGGCCTGCAATGACCAATCCTATTTGAGACAAAAGCTCTCAGGCTGGTGAGCTGTCAAATCGCTTTTTCTTCCACCTTCCCAGGATCATTGGTTTGAGCCAAGGGTCCCCCATGGTACTGGGCTGTGATTGCCGCATAGGTGCAGCCATAGATGGCAGCTGCCAACATCATGAGACACACAATCCCACACACAACGCCAGTGATGATGACAGTGGCAATGGCATGACGCAGGTTGGCCGGCCTTGGCTTGGGTTTGAGCTCGCACTCCAAGAGTTCTCGCTCCCCCGCGTTGTGGTTCTCAGGAGGCCTCAGGACCACACCGTGGGCAGAGCCGGGCCACTGAGCCTGCGAGGACACTGGATCAGGAGCAGGAAGAGGGCAGGGCTGGTACAGCTCATGAGGGATCCTAAGGAGGTCCTTTCCCTTCCAGGTGTCTGGTGATTCACAGATGATGCCGTCTGTTAGTCCCCCTTTAAAAAACAAAAGCAAAGAACAATAACAAAGCCTTGATACAACAGAGTTCCAAAATCCTCTGCCTGCAAAAACTTAGGCAGATGGAATTTATGAAGTACCTTTTTTTTTTTTAAATCCTGGAGTCAAAGAATTTAACAACCATATTTTATGATTTTAGGATTCCTAAATTGGCTAAATACTAAAAATGCCACACACTAAATTGGCAATTACTTATGACCAAGAATTCATTAGAAGCCCAGTAACCTTCATGTTCTCTAAATGCTCAGAGAAAACAATGCAAAAGCTGACAAGAAGGCACGCTGGGGGCCGATGGTGAGGGCACAGCTGCCCACTGCATTCGTGCCACGCATGGTCCTAGTGAGCCCCACAGACAAGAAAACTTTTGTACCAGATTCCCATTGAAAATCTAAGGAAAAAATAAAATAAATGTGCATTGTTGTGATGTTATGTGTTTATTACAAAGATCCTGTGTGTCTCAACACTGTTCAGTGATGCCAAATGGAGAGGTGGAATGGTCTTGGAGTGATCTGTGGATTTGACAATACTGGAAGTTTAGTTCCTGGAATTCGGTACCATGAATGTGTCTCCTCAGGCCTCAGAACATTTACGGCTTTGAATACTGAACTTTCCAGTGGGTTATTAAACCCAGTTTCCATTACCTGTAAGGTGATTGATATCCTCAGGTGTGTAGACTGCTGTTGGTCGGGGGAATTTGGGTGGTCGGTCATTCTTTCCTAGAGAGAGCCCTGAGCTAGCAGACTGAAGTCTAGTCTAGTGTGACCACTGATTTACTCTTTGACTTTGGGAAAATGTGCTTCGCTGACTTAATTTTCTGCCATGAAAACATGCTATTTGTATCCAACTTGATGGTTTACAAAGCACTGTTAGATAAGTCCTAATACTCCACTCTTGTAGGTAACTCTTGTCCAGACTCACAGAGGTCACGAGTGGATGAAACAACATCCAAACCCAGTTCTCCATGCTCAGTCCAAGTTTTTTCCACTACACTCGCTGCCTCGCCACATCCTCCTCTCAGGAGCGTTGTGAGGTCAGAGGAGTGGGCAGGATGGCCCTCGGCACTGTCTGCTAGGAAGCCTTTTGATTGGACAGAACTGCCCCATGACCTGCACCTTGGCCCTCTCAGGCTGCCATAAGCACCTCCCCTAGGCCAGCCGAAAAGACTGGCACTGCAGTTAGCAAAGTTAGATTGGAGGAGATTCTTAGTACACACAGTAAGTGAATTAGGAAATTATACCAGAAAGACATATGTAGAGGGCATCACTTCAACATTATTAGCACCCTCCATTGCATGGCACTTCAGAGTTTTAGGAATGCTTTCACATTTACTCTCTCTAAGCTTACTACAAGATAAGTCATAAGTGGCCCTGTAAGTAGATAGGGCCTATCTTGCAGTGCAAGGATTATCAGGTGGCCCCAACACACCAGGGTGAGTGGCAGTGGCAAAATTCAACCCATGTCCTTTTTGTTGCCACTGCTTAAAACTGAATCACCCACCACCAGAGTGTCTTGGGTTCCTCCTGGCTTCTCTAGCAATCCTTTGAGGAAACAGTCCTCACCCTAAAGCAGAAAGATAAAAGGGGAATTTCTTCCTTTTTTGAGCCACTGATTTTCCNN
benign
70,245
A genetic variant on chromosome 3, position 57106167, affects the gene IL17RD (interleukin 17 receptor D). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
benign
ATGGACCATATGATTACATAAAAATATTTGTTTGAAATATTTAATGAAGAGATCAAAAATCAATTATATATAAACTTTTTTTAAAAGCATGTTAAGAACCATATAAAAATATAACTGTGCACACCTTCAATAGCTTGAAATTTTAGTGTTGTAAACAGTTGGAATTCTATATGAACTGGGTTCATTCTATAGCATTAATAGGGCTTTCTTGTGTTATGCATACCTCAATTATATAATCCCCTGGAGAAACATTTTGAAGGAGGCAGCTGGTCGTCTCTGTAGTTTGCTCCTGCAACAGACCAAAGAACACTTTAAAAACTCACTTCTTGGGCAAAGGTCTTCAGGACACCTCTTCTCCCCCAGAGCTGAAGGAGACTTGCCACCAGTCTCAACCACAGTTTTCAGAAAATGTGATTAGATCGAAAAGCAACTGTGTTTATCTGCCACATGTTATCTGAACTTCCCTTTGATAAAAGGCCCAGGACAGCCCAGGACCCTTGCCATAGTCTATGCTTAGCTGGTGGCACCCTCAGCAGGAATATTTGATTTGAAGACAAAGAAACTGGTTTGAACAACCTTTACTTAATAAAAGGGTGAGGAAAGAAATTACCAGTCTGTGTTTATACATATTTTATTTGCCATAATTTTAACATGAGCAGGAGGTCAAAGACCTTGATAGAGATGAGAGCCAGCAAGGAGAGCAAACTATGACAGAACCTGACATACACAGGAGCATGTCTAAGGAGGTACTGGGCTTTGCCACCACGACCAAAAACTTTCTTGGTATCCACAGAGGCAATCAGACAGTCCTGTGAACATCCATGAAACGGTTTCCACTCTTCTGACCACTCCCAGTTTAAAGGCTGGGTTACTTAGTTTCTATTTAACCTTGGCCTATTTGTAAAATCAGTAGCCACTGAGTTATCAGTGGCTTGGCTCCTAGATCTGATTTTTCCACTTACTAGCTGTGCGGCCTTGAGCAAGCCAGGTGACATCCCTGAGCCTCAGCTTTCTCATCTGTAAAATGGGGATGACAGCAGCCTCTGTTTCATAGAGTGGTATGGATTCAAGGAGCATAAAGCTCAGGGCCTGCCACACAAGAGAGCACATGATGAATGCTGAAAATATAAAAGGACAGGCCAGGTGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTAGATCACTTGAGGTCAGGAGTCTAAGACCAGCCTGGGCAACATGGTGAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTGGCATGCGCCTATAATCCTAGCTACTCCAGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGCGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATATATATATATATATATTTGTTCATACATATATATGAACAAATGAGAAATACTTCTTGTTTATTCCTTGGCAATACTGTTACCAGGCTATATCACCACCAGGACAGCTGGGTTACAGATAACTAGGGAATGAAGGACAGTGGCAAGATGGCCCTGAGACATGCCCAATGATTACATTCTCAAGTATCTACCAACCACTGAGAGCCAACAAAGCCTAATGCTCACATTGAGCAACCCAAATTCCAGTGGCCTGGGGGTCGCTTTGAAACACGCAGTGTTCCTTTATATACACCCAGCAGCTCACCTGCTTACAGGTCTTTCGCTTGAAAGGTCCTTCGTGCTTGAGCTTGTAGTGAAGATAGAAGAAACGGAAGCCGAAGTTGTGCGGTGCATGGTCGAAGGACACCTGCATGTCCGAGCCATGCTGGCTGATGTTCAGGTTCCGAGGCTTCCAGACTGGAAGAAGGTAGGACCCAGAGTGAGCAACCAGAGGCTACCCTAACACCATCATAGTGGCGATACTTTGAGACTTGATAGATAAGAACACTATTACTTACAGGGTTTACAAGCTAGATTGTCCGGCTGTAACAACAGGTCACAGGCTATTAAGAGAATAAAGATACATGTTTTTAGTTTTAGGACAGTTAGACATTTTCCTCTCCCAACAACCCAATGAAATATAAAGATACTGTGCCGGGTGATGCTAGAAAAGGTATAAAATACATCAATTCAATGAGGATTTTCACTACTGTGCAGTTGTATCTTATGAAAATTTAAATGGTATAATATAAAAATATTAATGCAGTTCACTTTATGCCACATAAATGGTAACAATGTAAAGTCACCCAGATTTTAAAAGCTTGTCAGGCATTACATAATTTCAAGGCTGGTAGCCAAGGGCAGCAGAGCTATGTTCATGCTACAGTCACATGGAGGCTCTGTTTCAGCTGTAAACAGAAATGATGCTGGCCCCTACCCCACTGTGGAGATGTTTAGACACAAGAGAACTTTGGAGTGGTCCTGGTAACTGCTGCAGGATTATTTTAACCTTCACTAGTATTCTAATTTAAGATGCTTTTGATGGTTTCTTGAAATTACATGCAGGCATATAAGTAGTAGTGTCAGCACTGAAAACCAGGTACCAAAGCCAATAGCTTTGAAACAGAATCTAAACGCAATAAAAACACAATGAGAGAGGCCAAACAGCTAGTCCACTGTGCCATGCTGCTTGCTAACCCAGGGAGAGTCTCCATATAATGCCAAGAAAACTGAAGGCAGCATCAAAACCACAGTGCACTGAAATGGTTATAAATGTTTGCATTCCAGGAACACACCCCCTGCCTCCACCTTACCCCCAAAAAGATACATTGATTCTATGCCAACGGGAAAAATTCATCTTAAATTACACTAATTTTGATTTAGGTGAGGCTTTCATAAACACATTCTTTGAATCTTCTATCTGGTTATTATGTGCAAGTCATCTAGAGATGATGTGACATACACATGGTCTTTGCCGTATGGAATTTTATTTTAAGAATTATGAGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGATCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAATTAGCTGGACATGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGTCAGGAGAATGGCGTGAACCCCGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCATCTCGAAAAAAAAAAAAAAAATTATGAAATCAATTGTTAAAATAACTGCTGCGTAGAAAACAACCACAATAAGAATTCTGCAGAGGGAAACATTGATGTAGGCTGGAGTTGTGAACAGAAACATCACAATGGATGAGGGCTGCAACCAGACCTCACAGGAGGGGATGTTGGACAGGACTGACCATCCAAGGCCTTGAATGACAGAAAGACTGATCAGGAAGGCAAGAAGGAGCTGCTGCCTGTTCCAGGGCGACCAGCCACCAAAGTTTGAAAGCAGCAACTCAGGAAGATTAAAGAGATAACCTGTACAGAACAGAAGGTGAACAGACCCAGCACAGTGGGTGGTTGAGTTCAGAGCATGGATTCCAGAGTCAGACTTCTGGGGTTCAAATCCAACTCCCGGCAAGCCCTTCACCTTCTCTGTGTGGGATTCGGCATCTAGTAAGTGGGGATGGTACGACTAAATTCTTTGTAGGGTTGTCACAGAGGGTATTTGGAGTTAATATTTGGAATGCCTTTAGAACAGGGCCTGGCACATGGACATTAAATAAACAGAACTTTCTAGAAAATAATTTTCTTAATCTAGTCCTGAAAATGACAGGCCACCCTCCTGATAACAGGTAAAAGATGGAATCATTTCATGCTCCTACCTTTACCACAAAATCAACTTACACTTTTTATTCCTTTTTTTTTTTTTCTTTTTGAGATGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGAAGCTGAGATTACAGGCACATGCCACC
ATGGACCATATGATTACATAAAAATATTTGTTTGAAATATTTAATGAAGAGATCAAAAATCAATTATATATAAACTTTTTTTAAAAGCATGTTAAGAACCATATAAAAATATAACTGTGCACACCTTCAATAGCTTGAAATTTTAGTGTTGTAAACAGTTGGAATTCTATATGAACTGGGTTCATTCTATAGCATTAATAGGGCTTTCTTGTGTTATGCATACCTCAATTATATAATCCCCTGGAGAAACATTTTGAAGGAGGCAGCTGGTCGTCTCTGTAGTTTGCTCCTGCAACAGACCAAAGAACACTTTAAAAACTCACTTCTTGGGCAAAGGTCTTCAGGACACCTCTTCTCCCCCAGAGCTGAAGGAGACTTGCCACCAGTCTCAACCACAGTTTTCAGAAAATGTGATTAGATCGAAAAGCAACTGTGTTTATCTGCCACATGTTATCTGAACTTCCCTTTGATAAAAGGCCCAGGACAGCCCAGGACCCTTGCCATAGTCTATGCTTAGCTGGTGGCACCCTCAGCAGGAATATTTGATTTGAAGACAAAGAAACTGGTTTGAACAACCTTTACTTAATAAAAGGGTGAGGAAAGAAATTACCAGTCTGTGTTTATACATATTTTATTTGCCATAATTTTAACATGAGCAGGAGGTCAAAGACCTTGATAGAGATGAGAGCCAGCAAGGAGAGCAAACTATGACAGAACCTGACATACACAGGAGCATGTCTAAGGAGGTACTGGGCTTTGCCACCACGACCAAAAACTTTCTTGGTATCCACAGAGGCAATCAGACAGTCCTGTGAACATCCATGAAACGGTTTCCACTCTTCTGACCACTCCCAGTTTAAAGGCTGGGTTACTTAGTTTCTATTTAACCTTGGCCTATTTGTAAAATCAGTAGCCACTGAGTTATCAGTGGCTTGGCTCCTAGATCTGATTTTTCCACTTACTAGCTGTGCGGCCTTGAGCAAGCCAGGTGACATCCCTGAGCCTCAGCTTTCTCATCTGTAAAATGGGGATGACAGCAGCCTCTGTTTCATAGAGTGGTATGGATTCAAGGAGCATAAAGCTCAGGGCCTGCCACACAAGAGAGCACATGATGAATGCTGAAAATATAAAAGGACAGGCCAGGTGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTAGATCACTTGAGGTCAGGAGTCTAAGACCAGCCTGGGCAACATGGTGAACCCCGTCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGTGGCATGCGCCTATAATCCTAGCTACTCCAGAGGCTGAGGCAGGAGAATCGTTTGAACCCAGGAGGCGGAGGCTGCAGCGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATATATATATATATATATTTGTTCATACATATATATGAACAAATGAGAAATACTTCTTGTTTATTCCTTGGCAATACTGTTACCAGGCTATATCACCACCAGGACAGCTGGGTTACAGATAACTAGGGAATGAAGGACAGTGGCAAGATGGCCCTGAGACATGCCCAATGATTACATTCTCAAGTATCTACCAACCACTGAGAGCCAACAAAGCCTAATGCTCACATTGAGCAACCCAAATTCCAGTGGCCTGGGGGTCGCTTTGAAACACGCAGTGTTCCTTTATATACACCCAGCAGCTCACCTGCTTACAGGTCTTTCGCTTGAAAGGTCCTTCGTGCTTGAGCTTGTAGTGAAGATAGAAGAAACGGAAGCCGAAGTTGTGCGGTGCATGGTCGAAGGACACCTGCATGTCCGAGCCATGCTGGCTGATGTTCAGGTTCCGAGGCTTCCAGACTGGAAGAAGGTAGGACCCAGAGTGAGCAACCAGAGGCTACCCTAACACCATCATAGTGGCGATACTTTGAGACTTGATAGATAAGAACACTATTACTTACAGGGTTTACAAGCTAGATTGTCCGGCTGTAACAACAGGTCACAGGCTATTAAGAGAATAAGATACATGTTTTTAGTTTTAGGACAGTTAGACATTTTCCTCTCCCAACAACCCAATGAAATATAAAGATACTGTGCCGGGTGATGCTAGAAAAGGTATAAAATACATCAATTCAATGAGGATTTTCACTACTGTGCAGTTGTATCTTATGAAAATTTAAATGGTATAATATAAAAATATTAATGCAGTTCACTTTATGCCACATAAATGGTAACAATGTAAAGTCACCCAGATTTTAAAAGCTTGTCAGGCATTACATAATTTCAAGGCTGGTAGCCAAGGGCAGCAGAGCTATGTTCATGCTACAGTCACATGGAGGCTCTGTTTCAGCTGTAAACAGAAATGATGCTGGCCCCTACCCCACTGTGGAGATGTTTAGACACAAGAGAACTTTGGAGTGGTCCTGGTAACTGCTGCAGGATTATTTTAACCTTCACTAGTATTCTAATTTAAGATGCTTTTGATGGTTTCTTGAAATTACATGCAGGCATATAAGTAGTAGTGTCAGCACTGAAAACCAGGTACCAAAGCCAATAGCTTTGAAACAGAATCTAAACGCAATAAAAACACAATGAGAGAGGCCAAACAGCTAGTCCACTGTGCCATGCTGCTTGCTAACCCAGGGAGAGTCTCCATATAATGCCAAGAAAACTGAAGGCAGCATCAAAACCACAGTGCACTGAAATGGTTATAAATGTTTGCATTCCAGGAACACACCCCCTGCCTCCACCTTACCCCCAAAAAGATACATTGATTCTATGCCAACGGGAAAAATTCATCTTAAATTACACTAATTTTGATTTAGGTGAGGCTTTCATAAACACATTCTTTGAATCTTCTATCTGGTTATTATGTGCAAGTCATCTAGAGATGATGTGACATACACATGGTCTTTGCCGTATGGAATTTTATTTTAAGAATTATGAGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCATGAGATCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAAAATTAGCTGGACATGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGTCAGGAGAATGGCGTGAACCCCGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCATCTCGAAAAAAAAAAAAAAAATTATGAAATCAATTGTTAAAATAACTGCTGCGTAGAAAACAACCACAATAAGAATTCTGCAGAGGGAAACATTGATGTAGGCTGGAGTTGTGAACAGAAACATCACAATGGATGAGGGCTGCAACCAGACCTCACAGGAGGGGATGTTGGACAGGACTGACCATCCAAGGCCTTGAATGACAGAAAGACTGATCAGGAAGGCAAGAAGGAGCTGCTGCCTGTTCCAGGGCGACCAGCCACCAAAGTTTGAAAGCAGCAACTCAGGAAGATTAAAGAGATAACCTGTACAGAACAGAAGGTGAACAGACCCAGCACAGTGGGTGGTTGAGTTCAGAGCATGGATTCCAGAGTCAGACTTCTGGGGTTCAAATCCAACTCCCGGCAAGCCCTTCACCTTCTCTGTGTGGGATTCGGCATCTAGTAAGTGGGGATGGTACGACTAAATTCTTTGTAGGGTTGTCACAGAGGGTATTTGGAGTTAATATTTGGAATGCCTTTAGAACAGGGCCTGGCACATGGACATTAAATAAACAGAACTTTCTAGAAAATAATTTTCTTAATCTAGTCCTGAAAATGACAGGCCACCCTCCTGATAACAGGTAAAAGATGGAATCATTTCATGCTCCTACCTTTACCACAAAATCAACTTACACTTTTTATTCCTTTTTTTTTTTTTCTTTTTGAGATGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGCGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGAAGCTGAGATTACAGGCACATGCCACCN
benign
70,295
Determine if the mutation at chromosome 3, position 57114827 in gene IL17RD (interleukin 17 receptor D) is benign or pathogenic. If pathogenic, what disease(s) is associated?
benign
TTCTTCTGAGATTTATCCTGTTCCGATTAAGAAATTCAGACTTTACTTCTCCCTTGGCCAGGTTTTCACAAACTTGTAACATCAGGTGGCAGTGTCAAAGCGGCAGTCCTGAGAACCAGGTTCTGATCATGGTAATAGCAGCCACTATTCTTTGAGAGTTCTCTCTGAAAATGTACCATGTGTGTCTCTAACCATGAGGCAGTTCTCATCTCCCCTCTACAGATTGGGAAGCTGGGGTTCAGTGAGGTTCAATGCCTCATGTGAAAGATCAATTCTGGGGGTTCAAACCCAGGCCCACCTGAACAAATGGTCCCCTTCCTACATCTCACACTTGGCTAACCCATTCTTTCCTGTGTATCTTCAATTCATTCAAGAGGACAAGCAGATTTAGCCCCAACCCGAATCTAGCCATATAATACAGGTTTGCTTTTTTCTTTTAGTTTTTTCTTTTGTTTTTTATTTATTTATTTATTTTTGAGACAGAGTTTCCCTCTTGTTGTCCAGGCTGGAGCGCAATGGTGCGATCTCGGCTCACCGCAACCTCTGCCTTGTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTAAGTAACTGGGATTACAGGCATGCGACACCACACCCAGCTGATTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGTCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCTAAGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCTGTTTTGTTTTATAAAGAGACAGGGTCTCTCACTCTATAGCTCAGGCTTGAGTGCAGTGGCACGATAATCATAGCTAACTGTAGCATCAAATGCTGGGCTCAACTGATCCTCCTGCCTCGGCCGTCCAAGTAGCTAAGACTACAGACTTGTGCCACCATGCCCGGATAATTTTTTAATCTTTTTGTAGAAATGGGGGGGTCTCACTTTGTTGCCCAGGCTAGTCTCGAACTCCTGGCCTCAAATGATCCTCCCATCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACCATGCTTGGCCTCCTTTTTTTTGTTCTTTTCCATTTGGTTTTTTTGGCTTATACAGTTTAAATAAAAATTAAAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCACTTATAATCCCAGCTACTCGGGCAGCTGAGGCAGGAGAATCGCTTGAAACTGGAAGGCGGAAGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGTGAAAGAGCGAAACTATGTCTCAAAAAAAAAAAAAAAATTCAATTTGTTGCCAACATTTAAAAATGAATTGATTTCATTGTCTTTCATGAACACTGGGATTTTCCTGAAAAATCACAACATGTGCCAATGCTGGGCTGGCATGTCTCTGTGTCCGCGGAGACTGCTAATGCTGGATGGCCATTACGCCCTTGGATGGGCCATGGGCTTTCTTGGCACTGCTGCCCTCCCACCGCTGACTAGGGCTGAGACAGAGGCCAAGACATCAGTGCCATTTATTACTCACACAATATTACTTTTCAAGCCCATGTGAATAACAATAACAGTAGAAGAAACAAAAGACCATAGGGCACAGCCTCAAGCCATGTGTACGCCCAGCAAATATATGCAACAAAGTGTATCTGTGCCCAATCCAACATAAGCCTCACTCACATCAAGACCTGCCTGGTTCCTGGAGACCATCATGTGGGACCTTTGCACTGGGCCCTATCCACCCAGGTTATCACCATGCACTCGATTTTTGACCACTCACCGAGGGCCCCTGGGGACCAAAGAATGGTGACTGCCACTTGGTCATGGCAAGCATACTGGCTGATGGTGATATTCTGGGCGTCAGCAATCACATGCTTCCCCACTGGATTCAAGTAGGTGGTACAATCTAGAGAGTAGGGAGAATGAGAACAGTTAAATTTAAAATTTCATTTTTATTTTCAGGTTCATCTTATCAAAATAAACAGGGCATGTCTGAAGGTGGCCAAATCCATTCTGTTAAAGATGTGTCCCTCAAAAGCCCAAAATAAGACATGAGAGGTTGACTACTGCTTGGAAAACTGTAAGATGTTACAGAGGAATGATTTGTAGCACCACCACCACCACCCACTCATCCCATGTTAAATTCCAGGGCAATGTTGGGAGGATCTTATACAGTGTGGAGTTTGTGTGTGTACCTGGCATTAACTTTTTTTAGACCTAAATCAGTAATTATTTACATCAATTCAACCAATTTTCAGCATTAAAGAGTGATATGAAACAAAACAATCGCTAAATAACTTGGGCATTGTTTGTTTTTAGAAAAAACCTAGAGGGCCAGGTGATTGGGGGAAAGGAACTAACACTCAGATGTGAATTCATAGGGGAGAGATTCTCAGCAAGATTCTTAACCCAGTTAGCACAGGCTACTAACTCAGTGACAAGTGATAAAGATGTTAACTAGCATTGGTCAAAGGTAAAATTTTTGTTCTTAGACACCATGTGTCATCAAAGACACCAGCAACCCCCAGTAAATCCAAGGCACCCCACATTACTCAAAAAACAGAAGCCACACCAATCTTTGATTTTGCCTGAGGAGTTTACTCACTGCCACCTGTCAATGTAGCCATAGCAGCTGCACCACCTGGTCTTGCTAAATACACCTTCAAAATCGGCAAGTTTCCTAAAAAGCTGCCAAAACCTTCCGGCCAGAATCAGGCTGCGACTTCAGAGAATGGCCATGAGCTGTCTGGCCACTCTTGCAGGGAGAACCATTCACCATCCCCAGCAGGCACCACTTGTAATTCTTATGCTGCTTCATCCCCATTTCTTTCTCAATGATCAGACTTGAACACCCTCTCTTTTAGTATCTGCTGCAAAAGATCATCAGTTCCATCAAACATCCAAACCTGTCCATTACCCCTCTGAAGCCAGGGTGTTTTTATTTGGGATAAAGCATTCCAGGGGACTTTGTAAGAAGCTCTGTGAGTCTCCCTTTTTCTCCCTGTAGAGTCTCCCTGCACATTTCCCATTTTTATGACTAAAAATGTTCATTGCAGACATTGAAAAACCACAAAAGACTATAAGAAAAATATAAAAGGCATTCATAACCTCTTACCACACAGAGGTGCAATGAACATTCTAATGAATACCCTTCCAAGCCTTGTTTTAACATGCACATAATATTCCTCTTTTTAAATGTATTAAAGCATAACATACACACACTAAAACACAACCCCCATACTTGTAAAACTCCATCCTTCATGCTGCCTGTATTCTGCTTTATTGCCTGACTACATTAGGCACACTCCCTTCCTCCACTCAACTCCGTCAGCTTCAAAAGCAGTCATATTTACATTTCTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATGGCAACCTCTGCCTCCTGAGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTTAGTAGAGACGAGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAGGTGCTGAGATTAGAGGCGTGAGCCACCATGCCTGGCCCATATTTACATTTCAATATTACTTCTTTCAAAGGATGTTAATAAAACCAAATTCTACTTCTAGTGAATATTCACTCTTAAAGCAATCAACATATGTTCTCTGGGTAAAGAAGAGATTTTAGAATAGGAAAAAATTTATAACATCTGGTTTAACATCCTCACTATACAAATGAGGAAACTGCAGCTATGAGAGATCAGCTCTTACCACTTCTATCACAGCACAGAGCTTATTGCTACCAACATGAGTTCTGAATCAGAGGTATTCAGCCTGTAAAAATCCTGGCTGAGACC
TTCTTCTGAGATTTATCCTGTTCCGATTAAGAAATTCAGACTTTACTTCTCCCTTGGCCAGGTTTTCACAAACTTGTAACATCAGGTGGCAGTGTCAAAGCGGCAGTCCTGAGAACCAGGTTCTGATCATGGTAATAGCAGCCACTATTCTTTGAGAGTTCTCTCTGAAAATGTACCATGTGTGTCTCTAACCATGAGGCAGTTCTCATCTCCCCTCTACAGATTGGGAAGCTGGGGTTCAGTGAGGTTCAATGCCTCATGTGAAAGATCAATTCTGGGGGTTCAAACCCAGGCCCACCTGAACAAATGGTCCCCTTCCTACATCTCACACTTGGCTAACCCATTCTTTCCTGTGTATCTTCAATTCATTCAAGAGGACAAGCAGATTTAGCCCCAACCCGAATCTAGCCATATAATACAGGTTTGCTTTTTTCTTTTAGTTTTTTCTTTTGTTTTTTATTTATTTATTTATTTTTGAGACAGAGTTTCCCTCTTGTTGTCCAGGCTGGAGCGCAATGGTGCGATCTCGGCTCACCGCAACCTCTGCCTTGTGGGTTCAAGTGATTCTCCTGCCTCAGCCCCCTAAGTAACTGGGATTACAGGCATGCGACACCACACCCAGCTGATTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGTCAGGCTAGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCTAAGTGCTGGAATTACAGGCATGAGCCACCACGCCCAGCCTGTTTTGTTTTATAAAGAGACAGGGTCTCTCACTCTATAGCTCAGGCTTGAGTGCAGTGGCACGATAATCATAGCTAACTGTAGCATCAAATGCTGGGCTCAACTGATCCTCCTGCCTCGGCCGTCCAAGTAGCTAAGACTACAGACTTGTGCCACCATGCCCGGATAATTTTTTAATCTTTTTGTAGAAATGGGGGGGTCTCACTTTGTTGCCCAGGCTAGTCTCGAACTCCTGGCCTCAAATGATCCTCCCATCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTAAGCCACCATGCTTGGCCTCCTTTTTTTTGTTCTTTTCCATTTGGTTTTTTTGGCTTATACAGTTTAAATAAAAATTAAAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCACTTATAATCCCAGCTACTCGGGCAGCTGAGGCAGGAGAATCGCTTGAAACTGGAAGGCGGAAGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGTGAAAGAGCGAAACTATGTCTCAAAAAAAAAAAAAAAATTCAATTTGTTGCCAACATTTAAAAATGAATTGATTTCATTGTCTTTCATGAACACTGGGATTTTCCTGAAAAATCACAACATGTGCCAATGCTGGGCTGGCATGTCTCTGTGTCCGCGGAGACTGCTAATGCTGGATGGCCATTACGCCCTTGGATGGGCCATGGGCTTTCTTGGCACTGCTGCCCTCCCACCGCTGACTAGGGCTGAGACAGAGGCCAAGACATCAGTGCCATTTATTACTCACACAATATTACTTTTCAAGCCCATGTGAATAACAATAACAGTAGAAGAAACAAAAGACCATAGGGCACAGCCTCAAGCCATGTGTACGCCCAGCAAATATATGCAACAAAGTGTATCTGTGCCCAATCCAACATAAGCCTCACTCACATCAAGACCTGCCTGGTTCCTGGAGACCATCATGTGGGACCTTTGCACTGGGCCCTATCCACCCAGGTTATCACCATGCACTCGATTTTTGACCACTCACCGAGGGCCCCTGGGGACCAAAGAATGGTGACTGCCACTTGGTCATGGCAAGCATACTGGCTGATGGTGATATTCTGGGCGTCAGCAATCACATGCTTCCCCACTGGATTCAAGTAGGTGGTACAATCTAGAGAGTAGGGGAGAATGAGAACAGTTAAATTTAAAATTTCATTTTTATTTTCAGGTTCATCTTATCAAAATAAACAGGGCATGTCTGAAGGTGGCCAAATCCATTCTGTTAAAGATGTGTCCCTCAAAAGCCCAAAATAAGACATGAGAGGTTGACTACTGCTTGGAAAACTGTAAGATGTTACAGAGGAATGATTTGTAGCACCACCACCACCACCCACTCATCCCATGTTAAATTCCAGGGCAATGTTGGGAGGATCTTATACAGTGTGGAGTTTGTGTGTGTACCTGGCATTAACTTTTTTTAGACCTAAATCAGTAATTATTTACATCAATTCAACCAATTTTCAGCATTAAAGAGTGATATGAAACAAAACAATCGCTAAATAACTTGGGCATTGTTTGTTTTTAGAAAAAACCTAGAGGGCCAGGTGATTGGGGGAAAGGAACTAACACTCAGATGTGAATTCATAGGGGAGAGATTCTCAGCAAGATTCTTAACCCAGTTAGCACAGGCTACTAACTCAGTGACAAGTGATAAAGATGTTAACTAGCATTGGTCAAAGGTAAAATTTTTGTTCTTAGACACCATGTGTCATCAAAGACACCAGCAACCCCCAGTAAATCCAAGGCACCCCACATTACTCAAAAAACAGAAGCCACACCAATCTTTGATTTTGCCTGAGGAGTTTACTCACTGCCACCTGTCAATGTAGCCATAGCAGCTGCACCACCTGGTCTTGCTAAATACACCTTCAAAATCGGCAAGTTTCCTAAAAAGCTGCCAAAACCTTCCGGCCAGAATCAGGCTGCGACTTCAGAGAATGGCCATGAGCTGTCTGGCCACTCTTGCAGGGAGAACCATTCACCATCCCCAGCAGGCACCACTTGTAATTCTTATGCTGCTTCATCCCCATTTCTTTCTCAATGATCAGACTTGAACACCCTCTCTTTTAGTATCTGCTGCAAAAGATCATCAGTTCCATCAAACATCCAAACCTGTCCATTACCCCTCTGAAGCCAGGGTGTTTTTATTTGGGATAAAGCATTCCAGGGGACTTTGTAAGAAGCTCTGTGAGTCTCCCTTTTTCTCCCTGTAGAGTCTCCCTGCACATTTCCCATTTTTATGACTAAAAATGTTCATTGCAGACATTGAAAAACCACAAAAGACTATAAGAAAAATATAAAAGGCATTCATAACCTCTTACCACACAGAGGTGCAATGAACATTCTAATGAATACCCTTCCAAGCCTTGTTTTAACATGCACATAATATTCCTCTTTTTAAATGTATTAAAGCATAACATACACACACTAAAACACAACCCCCATACTTGTAAAACTCCATCCTTCATGCTGCCTGTATTCTGCTTTATTGCCTGACTACATTAGGCACACTCCCTTCCTCCACTCAACTCCGTCAGCTTCAAAAGCAGTCATATTTACATTTCTTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCCCGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATGGCAACCTCTGCCTCCTGAGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTATTTTTTAGTAGAGACGAGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAGGTGCTGAGATTAGAGGCGTGAGCCACCATGCCTGGCCCATATTTACATTTCAATATTACTTCTTTCAAAGGATGTTAATAAAACCAAATTCTACTTCTAGTGAATATTCACTCTTAAAGCAATCAACATATGTTCTCTGGGTAAAGAAGAGATTTTAGAATAGGAAAAAATTTATAACATCTGGTTTAACATCCTCACTATACAAATGAGGAAACTGCAGCTATGAGAGATCAGCTCTTACCACTTCTATCACAGCACAGAGCTTATTGCTACCAACATGAGTTCTGAATCAGAGGTATTCAGCCTGTAAAAATCCTGGCTGAGAC
benign
70,297
Is the variant located on chromosome 3 at position 57257436, gene APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
benign
CTAGACTAGTTTAGTAACTGATTGATATGAAGGATGAAAGAGATGACTAAGGTAAAGATGACTTCCAGGTTTTAAACCCAAGGGAAGAGAAGAAGAATTTGGGAAAGAAGAGTTCTGTTTTTATCTTAACGGCTTTGAGGTGCCAGCTAAGGAATGCCTAGGAGGAAGTTTTGAACCATAGAAACAAAATCTCATGACCTCCAAAATACTCGTAATTTGTTAGTTTTATAATGTTATTATATTTACATTGTAACATATTTATTACAATTATGTCTAATAAAATAAATTATGAGTTTAATTACGGAAAATCAGTGTTAACTATAGAGAAGGCTTTTGCTTTTAGTAATTTGATCTCCTGCCAATCTAGCTTTTCCTTTTTGTAAGGTTATTTGGGAACAACAAAAAATACCATTAAAATACAAATTAAATAATTTATTTTATCATTTAGGTCATACAGTGTTTGGATTTGAATAGTTTGTAATACTTACAGTCTTTTACTACCAATTATCAGAACTCTAATTTTTAGTTAATATTTCCTAGGTTATCCAGAATTATTTTATCTGTATTAGTGAGAATAGGAATTTTGATCAGTTTTTAGCATTGTATTAGTCATTTTGCTAACCATAAGACACAGAAGTGCAAAATTGTTATGTGATTATTTTTTCTAATTTAAAGACCATTTTTATGGAATAGTGCCTGTAGTCTCAACTACTCAGGAGGCTGAGGGGGGAGGATTGTTTGAGCCTAGGAGATCAAGGATGCAGTGAGCCATAATCATGCCATTGCACGCCAGCCTGGGCAATAGAGAACGTATCTCCCAAAAAAAGACCATTTAAAAAATTGTGAAAAAATCTGTAAATTTACCATGTTAACCATTTTTAAGTATACAGAAATGTTAACTATATGTACGTGATTAAAACAGATCTCTAATTTAAATACCATTTTTTATTTAGCCAGTATTTTAAATAAAACAGTAAGTCTAAAGTATTTCTTATGGAAAGCTTTCTTATTTTCAATTTTTTGGTCTGAAAATATGACAGCTTTATAAATTAATAAACAGATACTTCTGAGCATAAATATATTCTGGAAAATTGTGAAAACTTTACCAGCATAGTTATAAAATACTCATATTTTGTGAATATTTCCTATTCCTTCTAAATTTCTTTATTCAACAAATGTATCGATTGTCCATTGTGCCAGGCACTGGGCTGCATGTTAGCAATACAAACTTTAATAAAAAATATCTGGTAGTTAAAAATGTAAAGAAAACAATATTTTCTTTAAAAATTTAAAGTGTGCAACACTTGCAGGGAATTTTAAAAAATTAAAAAGCAATATCTAATAATTATGTATAAGTAGAAAATCAGATTTTTTTGCTAGATTATAGGAAGTAAGAGGAAATCAGTTATGTACCCTAATATTAAGACGAGGGAATATAGTACTACTTTAGTAGCTCTAATTTATATTTTAAGTGTAACTCAGAAGCATTCTAACAATTCAGAGTTACATTCAAACTTTTGGTTTGCTTACTTTACTAATATTAGTCCTTTTTTAAAAAAATTGAAATAGGAAACTGCTGCACGAGTAAATCAATCAGCTCTGGAAGCTGTCACTCCTTCCCCATCTTTCCAGCAGAGGCACGAGAGCCTGCGGCCAGCAGCAGGGTAAGTTACCACACTGAGTTATTTAAAGAAGGAGATGGGCTATTTAAAGTATCTGTGATCTGGGATTATGTTTGTACTGAAACTTAAGACTTCTCATTGACTTATAATATTGTGTTTTCTTTTTTCATAGTTTGTTAAATATTTAATATCCAAAAGGGAAAATTAAATGCAATGCCTTCTTGTTTTATGCTTAGACAATCTCGGCCACCGACAGCTCGAACCAGCAGTTCAGGATCCTTAGGATCTGAGTCTACAAATTTGGCTGCCCTCTCTCTAGATTCTCTTGTTGCCCCAGACACCCCAATACAGTTTGACATAATTTCTCCTGTGTGTGAAGATCAGCCTGGCCAGGCAAAAGCCTTTGGCCAGGGAGGCAGGTGGGTGATAGCATCACAGGTACATTGTGCTGTGGTCTGTAAGGCTTATAATCCCCTGTCTGCATTTCAGAGTCATCTCTTATTTATAATGTATATCAGCTATGTTGTACTTTCTTTGTTTAATTATGTAACATATTGTTAGGGAAGAACCATGCAGGTTTTTTTCTCTATGTCTTCTGCCTCAGTTAAGGAGTTAAGATAATTTAGTTTCCAAATATTTAATTCTGTATTGCTTATTAGGTCTATTTCTTGGATACTTGCTCTTAAAATTGCAGAAGAAAGTTGATAGCTGTCTTTAGGTCATGACAATTTTTAAAAAATTCTTGAGGGTAATACATGTGATATAGGTTTATTAGAAAATATTATCTTATACCAGAATAAGAAATCTTCAGGAAGTTACTAAAACATTATCACTATTATGAATTATGAATGAGTCATTGTTTAGTTGTATGATGAATATTCTCACCAAAGCAGTTAAAATTTTTCCTTGGCTGTGATTGAAGGAAACATGACTTAAGGCAAATCATTTATTAAGTAGAGTGGACACCTAATAAACTGATAATATATTAATTTGGATATACATGGCTGTGACCCAGAAAAAGTCATTTACATTTGATCACAGAAATACACTTAGCATTTGATGTAATAGGACACATACTAAAGAGATTAATTTCCTGTTATCTTACTGTCAGTGTTTTTTTAGAACCACTTAGCTCTCTGCTTCCAAAACCTACTTTGTTTTGTTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGCGGCATGATCATAGCTCACTGCAGCTTTGACCTTCTGGGCTCAAGGGATCCACCTGCCTCACCCTCCTGAGTACCTGGGACCACAGGCGTGCGCCACCACACCCAGCTAATTTTTAAATTTCTTTGGTAGAGACGGGTTCTTCCTGTGTTGCCCTAGCAGATCTCAAACTCCCAGGGTCAAGCAGTCCTCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAATGCCCAGCCCTCCAAAACCTACTTTGAGTTGTACTTTTCTTCCTTCACTGTGGTGTGCCACAAGCCATGCACACTAAGGAGGAAGGTAGCTTCCATCTCCAGTTCACTTTTCTTTTTGCATTGTTACTTACGCTTTAAGAAATACAGGTTTAAAACTAGATTATAGGTAACTTGTAACATGTACTTACAGAACCTAAAAAGAAGTTTTTACAATTCCAGGACATTCTTGGCATTTTTCTCAAGCAACTAAGATTGCAGTTAAATAAGTGTTCCTCTGTGCTAGCTTATTTAAATTCAAGAACTTTTGCAACATGGTTTATTATGTTGATTTTTTGTTGTGTATGTCTAAACTTCCAATTCATCTGTGTCTTCTAAAGTGCACCAACATTGATCAGTTAGTGTGTGAGGGCAGAGGCCTTCATCATAGTAATTTAGTGATCAATAGTGTTTCTTAATAGGATGGGGCATTTTAGAGCTTTTTTTTTTTAAATGTTAACTGTGGTTTTAATAATTAGATTTCTTCTATGTGGCTCATGGTAACTGACCATGTGTTCATATTTTCTTCTAAACTTTTTAGGCGTACAAATCCATTTGGAGAATCTGGAGGAAGTACAAAATCTGAAACTGAAGGTAAGACAGATGTGCAGCATTCATATATTTTAGAACTGCTTCTCAGCAAACTGTGAATAATTTATTGTTTATATTTGCTCTGCTACTAAGCTCAGTTTTAATGCTATCTTTACTTCAGAATTTCCTCTACTTACTTATAGTACACTTGAAGCAACAGAACTTAATCTGACTTAAGATGTTGTGATTCATACAAAACGATAGACTCTCATACTTTTGACTTTATAGTCAAATTCAGTGCCTAAGATACCTTTCAAGCTTTTCCTAACAGCTGATGTTTCTCTTCTGGTACTGGAGCATAAATTTTGTTTTTCCGCCACTAACTATTTATTTGAATTCTAAACTTACAGAAATGCTGTAAGAACCACCAGTTGTTGTGTGTTTGTGTGTGTGTGTGTGTGTTGAG
CTAGACTAGTTTAGTAACTGATTGATATGAAGGATGAAAGAGATGACTAAGGTAAAGATGACTTCCAGGTTTTAAACCCAAGGGAAGAGAAGAAGAATTTGGGAAAGAAGAGTTCTGTTTTTATCTTAACGGCTTTGAGGTGCCAGCTAAGGAATGCCTAGGAGGAAGTTTTGAACCATAGAAACAAAATCTCATGACCTCCAAAATACTCGTAATTTGTTAGTTTTATAATGTTATTATATTTACATTGTAACATATTTATTACAATTATGTCTAATAAAATAAATTATGAGTTTAATTACGGAAAATCAGTGTTAACTATAGAGAAGGCTTTTGCTTTTAGTAATTTGATCTCCTGCCAATCTAGCTTTTCCTTTTTGTAAGGTTATTTGGGAACAACAAAAAATACCATTAAAATACAAATTAAATAATTTATTTTATCATTTAGGTCATACAGTGTTTGGATTTGAATAGTTTGTAATACTTACAGTCTTTTACTACCAATTATCAGAACTCTAATTTTTAGTTAATATTTCCTAGGTTATCCAGAATTATTTTATCTGTATTAGTGAGAATAGGAATTTTGATCAGTTTTTAGCATTGTATTAGTCATTTTGCTAACCATAAGACACAGAAGTGCAAAATTGTTATGTGATTATTTTTTCTAATTTAAAGACCATTTTTATGGAATAGTGCCTGTAGTCTCAACTACTCAGGAGGCTGAGGGGGGAGGATTGTTTGAGCCTAGGAGATCAAGGATGCAGTGAGCCATAATCATGCCATTGCACGCCAGCCTGGGCAATAGAGAACGTATCTCCCAAAAAAAGACCATTTAAAAAATTGTGAAAAAATCTGTAAATTTACCATGTTAACCATTTTTAAGTATACAGAAATGTTAACTATATGTACGTGATTAAAACAGATCTCTAATTTAAATACCATTTTTTATTTAGCCAGTATTTTAAATAAAACAGTAAGTCTAAAGTATTTCTTATGGAAAGCTTTCTTATTTTCAATTTTTTGGTCTGAAAATATGACAGCTTTATAAATTAATAAACAGATACTTCTGAGCATAAATATATTCTGGAAAATTGTGAAAACTTTACCAGCATAGTTATAAAATACTCATATTTTGTGAATATTTCCTATTCCTTCTAAATTTCTTTATTCAACAAATGTATCGATTGTCCATTGTGCCAGGCACTGGGCTGCATGTTAGCAATACAAACTTTAATAAAAAATATCTGGTAGTTAAAAATGTAAAGAAAACAATATTTTCTTTAAAAATTTAAAGTGTGCAACACTTGCAGGGAATTTTAAAAAATTAAAAAGCAATATCTAATAATTATGTATAAGTAGAAAATCAGATTTTTTTGCTAGATTATAGGAAGTAAGAGGAAATCAGTTATGTACCCTAATATTAAGACGAGGGAATATAGTACTACTTTAGTAGCTCTAATTTATATTTTAAGTGTAACTCAGAAGCATTCTAACAATTCAGAGTTACATTCAAACTTTTGGTTTGCTTACTTTACTAATATTAGTCCTTTTTTAAAAAAATTGAAATAGGAAACTGCTGCACGAGTAAATCAATCAGCTCTGGAAGCTGTCACTCCTTCCCCATCTTTCCAGCAGAGGCACGAGAGCCTGCGGCCAGCAGCAGGGTAAGTTACCACACTGAGTTATTTAAAGAAGGAGATGGGCTATTTAAAGTATCTGTGATCTGGGATTATGTTTGTACTGAAACTTAAGACTTCTCATTGACTTATAATATTGTGTTTTCTTTTTTCATAGTTTGTTAAATATTTAATATCCAAAAGGGAAAATTAAATGCAATGCCTTCTTGTTTTATGCTTAGACAATCTCGGCCACCGACAGCTCGAACCAGCAGTTCAGGATCCTTAGGATCTGAGTCTACAAATTTGGCTGCCCTCTCTCTAGATTCTCTTGTTGCCCCAGACACCCCAATACAGTTTGACATAATTTCTCCTGTGTGTGAAGATCAGCCTGGCCAGGCAAAAGCCTTTGGCCAGGGAGGCAGGTGGGTGATTAGCATCACAGGTACATTGTGCTGTGGTCTGTAAGGCTTATAATCCCCTGTCTGCATTTCAGAGTCATCTCTTATTTATAATGTATATCAGCTATGTTGTACTTTCTTTGTTTAATTATGTAACATATTGTTAGGGAAGAACCATGCAGGTTTTTTTCTCTATGTCTTCTGCCTCAGTTAAGGAGTTAAGATAATTTAGTTTCCAAATATTTAATTCTGTATTGCTTATTAGGTCTATTTCTTGGATACTTGCTCTTAAAATTGCAGAAGAAAGTTGATAGCTGTCTTTAGGTCATGACAATTTTTAAAAAATTCTTGAGGGTAATACATGTGATATAGGTTTATTAGAAAATATTATCTTATACCAGAATAAGAAATCTTCAGGAAGTTACTAAAACATTATCACTATTATGAATTATGAATGAGTCATTGTTTAGTTGTATGATGAATATTCTCACCAAAGCAGTTAAAATTTTTCCTTGGCTGTGATTGAAGGAAACATGACTTAAGGCAAATCATTTATTAAGTAGAGTGGACACCTAATAAACTGATAATATATTAATTTGGATATACATGGCTGTGACCCAGAAAAAGTCATTTACATTTGATCACAGAAATACACTTAGCATTTGATGTAATAGGACACATACTAAAGAGATTAATTTCCTGTTATCTTACTGTCAGTGTTTTTTTAGAACCACTTAGCTCTCTGCTTCCAAAACCTACTTTGTTTTGTTTTGAGATGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGCGGCATGATCATAGCTCACTGCAGCTTTGACCTTCTGGGCTCAAGGGATCCACCTGCCTCACCCTCCTGAGTACCTGGGACCACAGGCGTGCGCCACCACACCCAGCTAATTTTTAAATTTCTTTGGTAGAGACGGGTTCTTCCTGTGTTGCCCTAGCAGATCTCAAACTCCCAGGGTCAAGCAGTCCTCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACAATGCCCAGCCCTCCAAAACCTACTTTGAGTTGTACTTTTCTTCCTTCACTGTGGTGTGCCACAAGCCATGCACACTAAGGAGGAAGGTAGCTTCCATCTCCAGTTCACTTTTCTTTTTGCATTGTTACTTACGCTTTAAGAAATACAGGTTTAAAACTAGATTATAGGTAACTTGTAACATGTACTTACAGAACCTAAAAAGAAGTTTTTACAATTCCAGGACATTCTTGGCATTTTTCTCAAGCAACTAAGATTGCAGTTAAATAAGTGTTCCTCTGTGCTAGCTTATTTAAATTCAAGAACTTTTGCAACATGGTTTATTATGTTGATTTTTTGTTGTGTATGTCTAAACTTCCAATTCATCTGTGTCTTCTAAAGTGCACCAACATTGATCAGTTAGTGTGTGAGGGCAGAGGCCTTCATCATAGTAATTTAGTGATCAATAGTGTTTCTTAATAGGATGGGGCATTTTAGAGCTTTTTTTTTTTAAATGTTAACTGTGGTTTTAATAATTAGATTTCTTCTATGTGGCTCATGGTAACTGACCATGTGTTCATATTTTCTTCTAAACTTTTTAGGCGTACAAATCCATTTGGAGAATCTGGAGGAAGTACAAAATCTGAAACTGAAGGTAAGACAGATGTGCAGCATTCATATATTTTAGAACTGCTTCTCAGCAAACTGTGAATAATTTATTGTTTATATTTGCTCTGCTACTAAGCTCAGTTTTAATGCTATCTTTACTTCAGAATTTCCTCTACTTACTTATAGTACACTTGAAGCAACAGAACTTAATCTGACTTAAGATGTTGTGATTCATACAAAACGATAGACTCTCATACTTTTGACTTTATAGTCAAATTCAGTGCCTAAGATACCTTTCAAGCTTTTCCTAACAGCTGATGTTTCTCTTCTGGTACTGGAGCATAAATTTTGTTTTTCCGCCACTAACTATTTATTTGAATTCTAAACTTACAGAAATGCTGTAAGAACCACCAGTTGTTGTGTGTTTGTGTGTGTGTGTGTGTGTTGA
benign
70,328
Variant at chromosome 3, position 57831369, gene SLMAP (sarcolemma associated protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
benign
GGCTTAGTAACCCACTAATGTATCAGAACTTGAAGTTTGAAAACCACTGTAAATATCATATAATCCCCTTATTTAACTTGCCCAGGCACATATTACTAAAAATAACCTGACCAGAATCCAGACATTACCACATTTCCCAAGAATATATTTATTAAAAAAAAAACTCTCTTATACAATGTAACATTAAGTTCCAGTGTAGAAAAAATTTTGAGGGTAAATATTCCTACTTGAAAGTATTGTCTGTCCTTATCTCCCTGGGTGAAATGTTAAGTCCTGTAAGTTTCAAATGTATTTAAAATATCAACACAATTTTCTAATTAATCGTCTGTAATTAGATATACAAACTGCTAATCAAAGTAACAGTTGGTCTATTTTGAATTATAAACAGAGAATAAGTCATTTATAGACAGCCTAGTGGCCTTTATATTGTCAGCTACCAATTAATGAAATGAAATGTAATTTGAACATTTTCTGCAGATTGCTTCTTAGTCTTTAGTTGTATTTAATTTTGGAAGAGAGCTGTGGGAGGGGTGAAGGATAAATGAAACATAAAGTCTGTGTCCCCTGTGAAGTAATGAGGAAAAATGGCCCTTTTAATTTTCTTATTTGAACTCTTGCTTCTGTGTTCCCCAGTTCTGTGACTTTTGAAAGATACTTAATATACCTGCATCTCACTTTTTTCCTTTATAAATGAAAGTAGTAATATCTTTTTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGGGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACACCACCATACACCACCATGTTGGCGAGGCTGGTCTCGAACCTCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAAAATAGTAATATCTTTATCATAGCTTTAATGTTAAATGAGGGCCTGATGGCAAAAGTATATTTTGATATATAGTGTATTAGGTGTCTTTTTACCTTTCTTCCTTAGGAAGAAATTCAGCGAAAATGTGTTACTAAAATAAGTAGGGCTGAAGAGTGTAGAAAAATCGAAAAAGAAAGGTACGTCTTTTTTTACTGGTGGTTCTCTTCCTAGTAAGTCTATTGTGTGTGATCCCAGTTGTGCTGAAATTTTTAAGGATTTGTAAGTGATAAATAGGTAGGCTTCTTGTGCCTCCTGCTATCCTTTCTGTTTTTAAAGAGGGAGGGTTACCCAAGTGATGAGAAGCAAATTTGGACAACCATCACCACTAATTTTAGAATATTTTCATCATCTCAAAAAGAAACCTTGTACCCATCCCATTCCTACCTGCCACTTCAGCCTTTTGTAAGCACTCATGTACTTTTTGTCTGTATAGCTTTGCCTATTCTGGATGTTTCATATAAAATGAATCATTATAATACATCAGTCTTTTGTGACTGACTTCTTTTACTTCACATAATGTTTTAAACGTTCATTCATGTTATAGCATGTTATCAATACTTCACCCCTTTATTGCCAAATAATATTCAGTTATATGAATGTCTACCACATTTGTTTATTCATTTATCAGTTGATGGATAGTTGGATTATTTTCCCTTTTTGGCTATTATGAATAATGCCAACATTTGTGTAGAAGTTTTTATGAGAACATGTTTTTAGTTCTCTTGGATGTATACCTAGGAGTGGAATTGCTGAGTTGTATACTAACTTTATGTTTAACATTTTGAGGACCTGACAAACTCTTTTTCCAAAGAGGTTGTACCGTTTTATGTAGCTGAATTTTAAATCACCTAGTTTTCAGATTCTAATTTCATATATATTAAAGGAGAACCTTAGCTGAAATGAGTGGTTTGAATTAATAGGGGAAAAATTCACTTGCAATAGTTGGCAAAGCTGGAAGCATTTTTTTAAAAAGTACATTTGGAATTATTACTATTAATATTTGGCCCTTTTTTGTTTTTGTTTTTTTTTGCAGTTTTATCTTCAAGACACTAAAAGTAGTAATGGTACTTTTATAAATAGCCAGAGATTGAGTCGAGGCTCTGAAGAAAGTCCACCATGTGAAATTCTTTCCGGTGACATTATCCAGTTTGGAGTAGACGTGACAGAGAATACACGGAAAGGTACGGGTATGGATCACTTTTTTTATTACTTGTCTTTTAAAGGTTATTTAATTTTTTATTATCTTACTTGACATTATGAAACATTACATGCTTGTGAAAGCGATTTAAATACAGCATTATATACAGTGAAAAGTTAAAAGTCTCATACTTTCCGTATTGCTCTTCTAAAATTTTAAATTCTGAAGTGTTATTTAGTAGTTTATATTCTTCATCACAGTCAGGGACCAGTCAGCTGCAATGACAGCATACCCCACCAAGACAAGCTTAAATCACAGGATATTTATTATTGATGATGAGACTTAATGAGAGATCTGGAGGCAGATAGGTTCATTTGTTCAGTTGACTCAATGAGATCATCAGGGATCCAGGGTCTTACTGTCTTCCTGTTCTACTGTCTTAAACATTTTAGTTTCTCATGCTTTTGGTTGTTGCTTCATGGTCATAAGATGATGGCTGCAAGCCCCAGGCATCATTTTCCTCACACCAGTATCCTAGGCAAAAAGGATGAGGCGGGGATAAAATGCCTTCTTGTGTGGCTCTCTTCTTATGTTGAAAGAACAATCTTTTGCAGAATCCTCCCAGCAGATTTCTCCTTAGGTCTCACTGGCCACATGGGTAGATCGCATACATAGTTACCTGCAGCTACAAAGAAGTCTGGTGAAGTTACTTAATCTCGTGAAAGGGAGCAAGAAGATCTATGATTGACATAGATCAGTTTTGATTTATTCCTTCAGGTTGTGTGTACATTGTTACCCCAAACAAAATTAGAGCTCTCTTAGCAAGAAAGAAGATGGAAAGGTAGTAGAGGTAGGCAGCTAATAGTAGCTATCACAAGTATAAAATAAAATTTAATGTCTCACAATTTTTGAAAGTTCTTTAGCTAAATAAATGTAGATTGATCTTTGTTTTTACAATTCAGAAGCTTCCTGCCTCTACCTAGTTCACGGTCTTCTTTATGACCATGAAATTATATAGCTAAATCATAAAACTAAATGGATAAAAACCATAAGTGTTTAGTTCCACTTCATTAGTTTAATATGGATAGTGCAACCATTTGGCAAGTTTCTCCTTTCATTTGTCTGAACATACTCTGATCTGGTGATACTGGTCAGAATTTTGCATAGTAGAGATGGTGATGGTGGTGATGATGATAATGCTGATGATGCTGGTGTGTGTGTGTTCATATGCATATTTATGCATATACTTTCACTGGTATTGCAACAGCAGTATTATTTTTAATGGGTTTTTTTGGCCTCCTCAGAAAGTTAGGTTTTGATATTTGAATTTGGGCAGGGCCAACATCTTAGGAATTTCCATTTACAATTGTAAACCAAAAAAGAAAGGTTTGTATTTTGGTAAAGAATATTGACACTTCTTACTAAGAGAATTCAACTTATATATGACCATACTGGGAACAGCTGCATTAGACACTCCTATATCTGCTGTTGCCATATCACACCTACAAGTCATTCAGCAAACAGTAAACCGAGCTCATTAAATGGAACCCCAACTGTGAGTAACCCATAGAGAAAAAGAGAATTTGATTACATTGTCTTTCTCTCCAAGGAATGTCTGTCTTCTTGGCTTGCATTTCCTAAAGGGAATTATTAGGTGTTGATTGACAAAAAGGATGAGGTAATGAAATACATTTAGAGAATACTTAGGTAAGATAAGCAGGACTTCTTGGAGCTTTTAATATGCTAACATATATGCAGATTTCCAAGGAGGTGGCCATTATAGAATGCAACTCTTTCCAAACTCCTTTCCACTGTTTTTTCCCATCTATCTGTGAGGGTCTATCTGTGAGGGATACTCTTTAGAAAATGCTATAGAAAGCTAAGAAGATGACCCTGAGATTCAAGGTTCCTCTTAGTATAATCTTATTT
GGCTTAGTAACCCACTAATGTATCAGAACTTGAAGTTTGAAAACCACTGTAAATATCATATAATCCCCTTATTTAACTTGCCCAGGCACATATTACTAAAAATAACCTGACCAGAATCCAGACATTACCACATTTCCCAAGAATATATTTATTAAAAAAAAAACTCTCTTATACAATGTAACATTAAGTTCCAGTGTAGAAAAAATTTTGAGGGTAAATATTCCTACTTGAAAGTATTGTCTGTCCTTATCTCCCTGGGTGAAATGTTAAGTCCTGTAAGTTTCAAATGTATTTAAAATATCAACACAATTTTCTAATTAATCGTCTGTAATTAGATATACAAACTGCTAATCAAAGTAACAGTTGGTCTATTTTGAATTATAAACAGAGAATAAGTCATTTATAGACAGCCTAGTGGCCTTTATATTGTCAGCTACCAATTAATGAAATGAAATGTAATTTGAACATTTTCTGCAGATTGCTTCTTAGTCTTTAGTTGTATTTAATTTTGGAAGAGAGCTGTGGGAGGGGTGAAGGATAAATGAAACATAAAGTCTGTGTCCCCTGTGAAGTAATGAGGAAAAATGGCCCTTTTAATTTTCTTATTTGAACTCTTGCTTCTGTGTTCCCCAGTTCTGTGACTTTTGAAAGATACTTAATATACCTGCATCTCACTTTTTTCCTTTATAAATGAAAGTAGTAATATCTTTTTTTGTTTGTTTGTTTGTTTTTGAGATGGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGGGGCACGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAGGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACACCACCATACACCACCATGTTGGCGAGGCTGGTCTCGAACCTCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAAAATAGTAATATCTTTATCATAGCTTTAATGTTAAATGAGGGCCTGATGGCAAAAGTATATTTTGATATATAGTGTATTAGGTGTCTTTTTACCTTTCTTCCTTAGGAAGAAATTCAGCGAAAATGTGTTACTAAAATAAGTAGGGCTGAAGAGTGTAGAAAAATCGAAAAAGAAAGGTACGTCTTTTTTTACTGGTGGTTCTCTTCCTAGTAAGTCTATTGTGTGTGATCCCAGTTGTGCTGAAATTTTTAAGGATTTGTAAGTGATAAATAGGTAGGCTTCTTGTGCCTCCTGCTATCCTTTCTGTTTTTAAAGAGGGAGGGTTACCCAAGTGATGAGAAGCAAATTTGGACAACCATCACCACTAATTTTAGAATATTTTCATCATCTCAAAAAGAAACCTTGTACCCATCCCATTCCTACCTGCCACTTCAGCCTTTTGTAAGCACTCATGTACTTTTTGTCTGTATAGCTTTGCCTATTCTGGATGTTTCATATAAAATGAATCATTATAATACATCAGTCTTTTGTGACTGACTTCTTTTACTTCACATAATGTTTTAAACGTTCATTCATGTTATAGCATGTTATCAATACTTCACCCCTTTATTGCCAAATAATATTCAGTTATATGAATGTCTACCACATTTGTTTATTCATTTATCAGTTGATGGATAGTTGGATTATTTTCCCTTTTTGGCTATTATGAATAATGCCAACATTTGTGTAGAAGTTTTTATGAGAACATGTTTTTAGTTCTCTTGGATGTATACCTAGGAGTGGAATTGCTGAGTTGTATACTAACTTTATGTTTAACATTTTGAGGACCTGACAAACTCTTTTTCCAAAGAGGTTGTACCGTTTTATGTAGCTGAATTTTAAATCACCTAGTTTTCAGATTCTAATTTCATATATATTAAAGGAGAACCTTAGCTGAAATGAGTGGTTTGAATTAATAGGGGAAAAATTCACTTGCAATAGTTGGCAAAGCTGGAAGCATTTTTTTAAAAAGTACATTTGGAATTATTACTATTAATATTTGGCCCTTTTTTGTTTTTGTTTTTTTTTTGCAGTTTTATCTTCAAGACACTAAAAGTAGTAATGGTACTTTTATAAATAGCCAGAGATTGAGTCGAGGCTCTGAAGAAAGTCCACCATGTGAAATTCTTTCCGGTGACATTATCCAGTTTGGAGTAGACGTGACAGAGAATACACGGAAAGGTACGGGTATGGATCACTTTTTTTATTACTTGTCTTTTAAAGGTTATTTAATTTTTTATTATCTTACTTGACATTATGAAACATTACATGCTTGTGAAAGCGATTTAAATACAGCATTATATACAGTGAAAAGTTAAAAGTCTCATACTTTCCGTATTGCTCTTCTAAAATTTTAAATTCTGAAGTGTTATTTAGTAGTTTATATTCTTCATCACAGTCAGGGACCAGTCAGCTGCAATGACAGCATACCCCACCAAGACAAGCTTAAATCACAGGATATTTATTATTGATGATGAGACTTAATGAGAGATCTGGAGGCAGATAGGTTCATTTGTTCAGTTGACTCAATGAGATCATCAGGGATCCAGGGTCTTACTGTCTTCCTGTTCTACTGTCTTAAACATTTTAGTTTCTCATGCTTTTGGTTGTTGCTTCATGGTCATAAGATGATGGCTGCAAGCCCCAGGCATCATTTTCCTCACACCAGTATCCTAGGCAAAAAGGATGAGGCGGGGATAAAATGCCTTCTTGTGTGGCTCTCTTCTTATGTTGAAAGAACAATCTTTTGCAGAATCCTCCCAGCAGATTTCTCCTTAGGTCTCACTGGCCACATGGGTAGATCGCATACATAGTTACCTGCAGCTACAAAGAAGTCTGGTGAAGTTACTTAATCTCGTGAAAGGGAGCAAGAAGATCTATGATTGACATAGATCAGTTTTGATTTATTCCTTCAGGTTGTGTGTACATTGTTACCCCAAACAAAATTAGAGCTCTCTTAGCAAGAAAGAAGATGGAAAGGTAGTAGAGGTAGGCAGCTAATAGTAGCTATCACAAGTATAAAATAAAATTTAATGTCTCACAATTTTTGAAAGTTCTTTAGCTAAATAAATGTAGATTGATCTTTGTTTTTACAATTCAGAAGCTTCCTGCCTCTACCTAGTTCACGGTCTTCTTTATGACCATGAAATTATATAGCTAAATCATAAAACTAAATGGATAAAAACCATAAGTGTTTAGTTCCACTTCATTAGTTTAATATGGATAGTGCAACCATTTGGCAAGTTTCTCCTTTCATTTGTCTGAACATACTCTGATCTGGTGATACTGGTCAGAATTTTGCATAGTAGAGATGGTGATGGTGGTGATGATGATAATGCTGATGATGCTGGTGTGTGTGTGTTCATATGCATATTTATGCATATACTTTCACTGGTATTGCAACAGCAGTATTATTTTTAATGGGTTTTTTTGGCCTCCTCAGAAAGTTAGGTTTTGATATTTGAATTTGGGCAGGGCCAACATCTTAGGAATTTCCATTTACAATTGTAAACCAAAAAAGAAAGGTTTGTATTTTGGTAAAGAATATTGACACTTCTTACTAAGAGAATTCAACTTATATATGACCATACTGGGAACAGCTGCATTAGACACTCCTATATCTGCTGTTGCCATATCACACCTACAAGTCATTCAGCAAACAGTAAACCGAGCTCATTAAATGGAACCCCAACTGTGAGTAACCCATAGAGAAAAAGAGAATTTGATTACATTGTCTTTCTCTCCAAGGAATGTCTGTCTTCTTGGCTTGCATTTCCTAAAGGGAATTATTAGGTGTTGATTGACAAAAAGGATGAGGTAATGAAATACATTTAGAGAATACTTAGGTAAGATAAGCAGGACTTCTTGGAGCTTTTAATATGCTAACATATATGCAGATTTCCAAGGAGGTGGCCATTATAGAATGCAACTCTTTCCAAACTCCTTTCCACTGTTTTTTCCCATCTATCTGTGAGGGTCTATCTGTGAGGGATACTCTTTAGAAAATGCTATAGAAAGCTAAGAAGATGACCCTGAGATTCAAGGTTCCTCTTAGTATAATCTTATT
benign
70,359
Classify the chromosome 3 variant at position 57860849 affecting gene SLMAP (sarcolemma associated protein) as benign or pathogenic. If pathogenic, which disease(s) is associated?
benign
GCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGACAGGAGAATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCAATGTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAACAACAACAACAACAACAAAAAAGTTACAAAAATAATGATGTAATTCTGTTATTCCTTCACTTATTTAGCTGGGTTACTTCTATAAAGAGAAGTTTCCTTCCATACACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCGGATTGCTTGAGGTCAGGAGTTCAAAACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGACATGGTGGCATGTACCTGTAATCCAAGCTACTCAAGAGGCTGAGACAGAATTGCTTAAACCCGGTGGGGGTGGAGGTTGCAGTGAGCCAAGATCGCACCTCTGAACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAGCGGGGGCAGTTTGAGACCAGTATGGGCAACATGGCAAAACCCAGTATCTACCAAAAATTAAAGATTTGCTTAGCATAGTGGTACATAACCTGTAGTCCTAGCTACTCGGGAGGCTTAGGTGGAAGGATCGCTTGAGCCCAGGAGTTTGTGATTACAGTGAGTTATGATCGCAGAACTGCGCTCCAGCCTTGGTGACAAAGAGAGACCCTGTCTCTAAAAAAACGAAAAAAGGAAAAACAATGGCCATTGTTTTTTGTAACTTTGGCATCAAAAACCAAATACCACATGTTCTCATTTATAAGTGGAAGCTAAGCTATAGGTATGTAAAGGCATAAAGAGTGCTATAATGGACATTGGAGACTCAGAAGTTGGGAAAGTGAGAGGGGAGTGAGGGATGAAAAACTCCCTATTGAATACAATATACACTACTCAGGTAATGAGTGCACTAAAACCCCAGACATCACCACTACATAATTCATCCATGTAACCAAAAACCACTTGTATCTCTAAAGGTATTGGAATAAAAAAATTTAAATAACCCTGAGGTATGTTTTCTACGGGGAAAGCAAGATAAGTGATTTTCTCCCCTTATTTATTAGATTTCAGAATAATGAATTGGTGGTTTTTCATCTACCAAAGACTGGCCATGAAGTGTTTTCTCACTCCACTTAGATTTAAACATATTTGATGTATTTAAATCTGGTGCAGTTGTTTTTCTTGTTTTAGAGACAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCACGCAATCCTCCCATCTCGGCCTCCCAAAGTGCCACGGCCAGCCTATTTTTCTTATTGATGCTCAAATTATCCCATCTTTGGTCTGTGTAAATGTCTTCAGAGTGATAGCTTCATGCTGTCATTTCAGACAAGATGTTTCAGGCTCATTTTGTACTTTTCCTGCCCCAGACATGAAGTCTGCTTTTCCCCCATGGTACTCTTATTCCTTTTGTTTTAACCATTGTTTCAGAATGCTTGGTGCCTTTGAAGGTAATTGATTATTTTTGCCTACAAATGTGAATATGGTGGCTTGCAGAAAATATGACAAATATAAAAGTAACTAATTTTGTATATTTTAGGGAAATTCTCAATTGCCTATAACTTTTTTTTTCTATAGGAAGTGGAAATTAGTAAGTTTGTGAAGGCATAATTTACTTATGCAACTTGTAAATACATCTTTAGTTAATACAGGGCCAGAATCATTTATGTTTGGAGGTACCTTAATATATAATTTAAAGTATATCATAATGTGTTAATTTTTTTCAAACAATAAATGCTTTTAAAAAATAACTTGTCTATAATTATAAATATCTTTTATTGTAGAATCAAACAGAAGATAGTTTACGAAAGGAACTTATAGCATTACAAGAGGATAAACATAACTATGAGACAACAGCCAAAGAGTCCCTGAGGCGGGTTCTTCAGGAGAAAATTGAAGTGGTTAGAAAACTTTCAGAAGTTGAGGTATTTCAATCAAAAAAAAAATACTAAATAGTATTATGAGTGTTCAAAAAAATCTCAAGCATTCCAGGATACTTTAAACTTGGGTATTATTATATAGTTAGGAAATACTTTCTGTCTGTCAGGTGGGAAGGAACAGTTACGCTGCTTTCATTGACAGCAATTCTCCATGTGAGTTTTGGTACTTACTCCCTAGTCAATGGCTGAGGAAATAAAAGCGTAACCAGGGAATCTTATTGTTTGCATTCTGCTTAGGATTCACCCTCCATACAGCAGACCATGATATGTGCTGGGGAATTGATTTCCTGTCACTTGGTTTTGCTTTGCTTCTATTTGAGGGGGGTCAGTGTAAGGCCAAGAGTCTACACTACTTGTTCTTTTTTAATTCACTCTGCAGAGAGGAAAACTAGCTGTGTCATATATTTAGGAAGTTCAAAGGTGAAATCATCTCCAAGGTCCTTTCTAGGTCTTGGAGGAGCAATCAAAATGCAATTTTTATTGCTTTGGGGAAAAAAATTCTAATTCATAATATAGATCTTTTCTTTGAACCACTGCAAAATTACCACATAAATAATGTATTACTAGAATTAGTTAAAATGCTCATCAGAAACTAAATGGTAAACATACCTTTCCTTACTACAGGTATAGTTTGTATTGCTACCTCATCCCATAGTGCCTGATTCACTGTTGTGTGATTAATTTGATATATAAAGAAAGTTACTAAGTGTCTTTTAATTTTTTATTAAATTGATTGCTGGATATTATTAAACTTGCTTTCAAGGATTGATAGGCTTAAAATATTTTCACAGCTAAAAGTCATACCCATTGGCCTTTCAAAAATGTAATTATATAAAGGCAGCATCCTTTTCCTGCCCCTGCTCTCCCTCCACTTTTATTTTTTTGTTGTTTTTGTTAATTCTTAGTTATGTTTTCTGTTTTAGTGTGAATTGAAATTCTTATGTTATTTGACTCAGCTTTATTTAAAGTCCAGGGCAGATGTTGATTTAGAATAGTCCATAGAATTATACTTTTTATAAATTTCATTTAGAAGGAATTCTAAATAACAAATATACACTTATTCTAATTAAATTGCCTGTAAACTTGAATCGCAGCGAAGTCTGAGTAATACTGAAGATGAATGTACCCATCTGAAAGAAATGAATGAAAGGACTCAGGAAGAATTAAGAGAATTAGCCAACAAATATAATGGAGCAGTTAATGAGATTAAAGATTTATCTGATAAATTAAAGGTATGTATTTACTCTGCCTGAAAGTATGTTAAGCTAATAATCCCTAACACACTAGATAGCTTAAGATTTTAGGTATTGCTTTAGCTGGGCGTGGGGTGGCGGGCGCCTGTAATCCCAGCTTCTCAGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGCGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGATACTCCATCTCAAAGGAAAAACAAACAAACAAACAAACAAAAAACAGTTTGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGACACATGCCTGTAGTCCCAGCTCCTTGGGAGTCTAAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGCGACAGAGCAAGACTTCGTCTCACAAAAAAAAAAAAAAAAAAAAAATTCAGTTTGAAAACCACTGGTATAGATAGATATTTTGAATTGATTTGCATAGTCTCCTTGAATGTGTTAAATTATGCTGAAAGTATGAAAGCAGGATGTAGGTGGTACTACATATTAAATAAGATTTCTATAAAAAAAGATTTTAGGTATTGCTGAATAGTTATTGATGTAAAAATTTGGTAACAGTTGAAATTTATAGTGAAAATAAGGTGTCTGTATTCCATTTAGCCCAACCT
GCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGAAGGCTGAGACAGGAGAATCCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCAATGTAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAACAACAACAACAACAACAAAAAAGTTACAAAAATAATGATGTAATTCTGTTATTCCTTCACTTATTTAGCTGGGTTACTTCTATAAAGAGAAGTTTCCTTCCATACACAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCGGATTGCTTGAGGTCAGGAGTTCAAAACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAGTACAAAAATTAGCTGGACATGGTGGCATGTACCTGTAATCCAAGCTACTCAAGAGGCTGAGACAGAATTGCTTAAACCCGGTGGGGGTGGAGGTTGCAGTGAGCCAAGATCGCACCTCTGAACTCCAGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAGCGGGGGCAGTTTGAGACCAGTATGGGCAACATGGCAAAACCCAGTATCTACCAAAAATTAAAGATTTGCTTAGCATAGTGGTACATAACCTGTAGTCCTAGCTACTCGGGAGGCTTAGGTGGAAGGATCGCTTGAGCCCAGGAGTTTGTGATTACAGTGAGTTATGATCGCAGAACTGCGCTCCAGCCTTGGTGACAAAGAGAGACCCTGTCTCTAAAAAAACGAAAAAAGGAAAAACAATGGCCATTGTTTTTTGTAACTTTGGCATCAAAAACCAAATACCACATGTTCTCATTTATAAGTGGAAGCTAAGCTATAGGTATGTAAAGGCATAAAGAGTGCTATAATGGACATTGGAGACTCAGAAGTTGGGAAAGTGAGAGGGGAGTGAGGGATGAAAAACTCCCTATTGAATACAATATACACTACTCAGGTAATGAGTGCACTAAAACCCCAGACATCACCACTACATAATTCATCCATGTAACCAAAAACCACTTGTATCTCTAAAGGTATTGGAATAAAAAAATTTAAATAACCCTGAGGTATGTTTTCTACGGGGAAAGCAAGATAAGTGATTTTCTCCCCTTATTTATTAGATTTCAGAATAATGAATTGGTGGTTTTTCATCTACCAAAGACTGGCCATGAAGTGTTTTCTCACTCCACTTAGATTTAAACATATTTGATGTATTTAAATCTGGTGCAGTTGTTTTTCTTGTTTTAGAGACAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCACGCAATCCTCCCATCTCGGCCTCCCAAAGTGCCACGGCCAGCCTATTTTTCTTATTGATGCTCAAATTATCCCATCTTTGGTCTGTGTAAATGTCTTCAGAGTGATAGCTTCATGCTGTCATTTCAGACAAGATGTTTCAGGCTCATTTTGTACTTTTCCTGCCCCAGACATGAAGTCTGCTTTTCCCCCATGGTACTCTTATTCCTTTTGTTTTAACCATTGTTTCAGAATGCTTGGTGCCTTTGAAGGTAATTGATTATTTTTGCCTACAAATGTGAATATGGTGGCTTGCAGAAAATATGACAAATATAAAAGTAACTAATTTTGTATATTTTAGGGAAATTCTCAATTGCCTATAACTTTTTTTTTCTATAGGAAGTGGAAATTAGTAAGTTTGTGAAGGCATAATTTACTTATGCAACTTGTAAATACATCTTTAGTTAATACAGGGCCAGAATCATTTATGTTTGGAGGTACCTTAATATATAATTTAAAGTATATCATAATGTGTTAATTTTTTTCAAACAATAAATGCTTTTAAAAAATAACTTGTCTATAATTATAAATATCTTTTATTGTAGAATCAAACAGAAGATAGTTTACGAAAGGAACTTATAGCATTACAAGAGGATAAACATAACTATGAGACAACAGCCAAAGAGTCCCTGAGGCGGGTTCTTCAGGAGAAAATTGAAGTGGTTAGAAAACTTTCAGAAGTTGAGGTATTTCAATAAAAAAAAAATACTAAATAGTATTATGAGTGTTCAAAAAAATCTCAAGCATTCCAGGATACTTTAAACTTGGGTATTATTATATAGTTAGGAAATACTTTCTGTCTGTCAGGTGGGAAGGAACAGTTACGCTGCTTTCATTGACAGCAATTCTCCATGTGAGTTTTGGTACTTACTCCCTAGTCAATGGCTGAGGAAATAAAAGCGTAACCAGGGAATCTTATTGTTTGCATTCTGCTTAGGATTCACCCTCCATACAGCAGACCATGATATGTGCTGGGGAATTGATTTCCTGTCACTTGGTTTTGCTTTGCTTCTATTTGAGGGGGGTCAGTGTAAGGCCAAGAGTCTACACTACTTGTTCTTTTTTAATTCACTCTGCAGAGAGGAAAACTAGCTGTGTCATATATTTAGGAAGTTCAAAGGTGAAATCATCTCCAAGGTCCTTTCTAGGTCTTGGAGGAGCAATCAAAATGCAATTTTTATTGCTTTGGGGAAAAAAATTCTAATTCATAATATAGATCTTTTCTTTGAACCACTGCAAAATTACCACATAAATAATGTATTACTAGAATTAGTTAAAATGCTCATCAGAAACTAAATGGTAAACATACCTTTCCTTACTACAGGTATAGTTTGTATTGCTACCTCATCCCATAGTGCCTGATTCACTGTTGTGTGATTAATTTGATATATAAAGAAAGTTACTAAGTGTCTTTTAATTTTTTATTAAATTGATTGCTGGATATTATTAAACTTGCTTTCAAGGATTGATAGGCTTAAAATATTTTCACAGCTAAAAGTCATACCCATTGGCCTTTCAAAAATGTAATTATATAAAGGCAGCATCCTTTTCCTGCCCCTGCTCTCCCTCCACTTTTATTTTTTTGTTGTTTTTGTTAATTCTTAGTTATGTTTTCTGTTTTAGTGTGAATTGAAATTCTTATGTTATTTGACTCAGCTTTATTTAAAGTCCAGGGCAGATGTTGATTTAGAATAGTCCATAGAATTATACTTTTTATAAATTTCATTTAGAAGGAATTCTAAATAACAAATATACACTTATTCTAATTAAATTGCCTGTAAACTTGAATCGCAGCGAAGTCTGAGTAATACTGAAGATGAATGTACCCATCTGAAAGAAATGAATGAAAGGACTCAGGAAGAATTAAGAGAATTAGCCAACAAATATAATGGAGCAGTTAATGAGATTAAAGATTTATCTGATAAATTAAAGGTATGTATTTACTCTGCCTGAAAGTATGTTAAGCTAATAATCCCTAACACACTAGATAGCTTAAGATTTTAGGTATTGCTTTAGCTGGGCGTGGGGTGGCGGGCGCCTGTAATCCCAGCTTCTCAGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGACGGAGGTTGCAGCGAGCTGAGATCACGTCACTGCACTCCAGCCTGGGCGACAGAGCGATACTCCATCTCAAAGGAAAAACAAACAAACAAACAAACAAAAAACAGTTTGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGACACATGCCTGTAGTCCCAGCTCCTTGGGAGTCTAAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGCGACAGAGCAAGACTTCGTCTCACAAAAAAAAAAAAAAAAAAAAAATTCAGTTTGAAAACCACTGGTATAGATAGATATTTTGAATTGATTTGCATAGTCTCCTTGAATGTGTTAAATTATGCTGAAAGTATGAAAGCAGGATGTAGGTGGTACTACATATTAAATAAGATTTCTATAAAAAAAGATTTTAGGTATTGCTGAATAGTTATTGATGTAAAAATTTGGTAACAGTTGAAATTTATAGTGAAAATAAGGTGTCTGTATTCCATTTAGCCCAACCTN
benign
70,375
A genetic alteration at chromosome 3, position 58104060, in gene FLNB (filamin B)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Spondylocarpotarsal_synostosis_syndrome']
ACAAAGTTATATTGTGTCTGTATTTGCTAGCCTGGTGTGCTCCCTGAGTGGGACCCCTGGTCTTGGGCAACTACTGCATACTATTTGTGCAAAGCAAATATTTTCTTGGCGGGTGGCTCCAGGTTACCTTGGCTTTCACGACTCTGACTAAAGAATGAAAGATTGAATTGATGTCAAAACTGTGCTTGCAGCCTGCAATCCAAATGCCTGCCGGGCCAGTGGCCGAGGCCTACAACCCAAAGGCGTCCGTATCCGGGAGACCACAGATTTCAAGGTTGACACCAAAGCTGCAGGAAGTGGGGAGCTCGGTGTAACCATGAAGGGTCCTAGTAAGTGTTCCTTTGTTTCTCTATCTCAGGTGTGGTTTTGGCTAACTTTGCAGCCATGGCATATGGATTTCATCCCACGGCCAGTTGTCCTCAATAATCCCAGAAGGCTATGTCAAGGATTTGAGGCTATCTGGGCTCCTTGGGGAAGACGGCAGTGATTGATTAGTAATGTCTGCCCTGGATGCGGCCAGTGGGTGGCTTGACAGCTTTACATTACATCAAGACTTCTGGGAGTAGAAAAAGCAGTGATGTAAAGGAGTTGGGGAAATGCTGCTGTTGGAACAAGTGGCTCATTTTTTATTTTAGACATCTGGGCTCAGAGAGGAAGGCTCTTGCCTAAGGTCATACAGCGTTTGTAATCATCTGAGCTGGAATTCAAGCACAGTCTCCAAAGCCAGTGATTTTCCCACTACAGGTTACATTTTATAGAGTATGAAATTATGTCAAGTACTTAATTACTATGATCAGTGCTTATAGAAGGAGAATAAAATTCCCTAAGATTAAGTTTTCTTTGTAGATAAATGCCATTTGTGGAGGTACAGGTTAAACCCTGCAACCCATTCTCTCTCCCTCTTTTGGGGAAGGAGACAGCAGATGTGGGGATGGGTGTCTTCACTTTTTTCGTTGGAACAGAGAAGCATTTCAGCACTTCTAGTCTCGGGTGTAGCAGCCTTTGGTGGTTTTACTCCCATGCCTGTGGAATCTTGAGCTTCCTGTACCAGGATTGCTCTTACCTTCTGTGTTCCCAACAGGCTGGGGCAGGAGCATTCTGAGCTCCAGAAAGTTAATATTTGACTTCACAGCACCAGGCTTTGGGTCAGGCTGTGCCCTGAGGGTAGCCGAGGTTCTAGACTGCCCAGACCTGGAGTCAAGCTGCTTGGGGACTGTCTTCCCTCCCAGATTATTCCAACAGGAGCCAAGGAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCACGCGCGTGCATGCCTCTGCGTATGTGTGCGTACGTGTGTGTTTTCTCCTGACCTTGAATACTTGCTTGACTCAACGGCTTTCCTGGCCAAACCTCAGGGCTCAACACAAAACAAGTTCCTGCCTGATGGCTGGGTTTGGAGTTTGCAGCGTCACATCTAAAACCTGTCCTCTTGCAGATAGCGTCTGAGGACTTTCTTGCTTTTGTTGTCCAGCTTTAGATGGAAAAGTATACGCTGGAACACTGAACCTAAAACTCATACCAAATACTTCTAAAGGTTTACTTCTTCCCCAGTTTTTGTGGGGGACTAGGAAGGGTAGCTATGATTATTGGGAAATACTGAAATGTGACTGGATTTATCTTTATGCAGGCCCAGGGAGTTCAGGACCTCAGGGCCCCTCGTAGCCAAGCAAGATTTCTAAAGCCAATTAGCTGGGAAATCCTCCATTTCCTCATACCTTGAAGCAGAGATGGCTGTGTTTTTAGCTTTGAAATAATCTCCCAGGCTTTGAGGGGAGAGGTCCCATACTCTGGGGCAGCCCACTTGGTTTTTATGTATGGTTTATGTTTTGTTCAGTGTGGCTGCCTCTCTGTTCTTGTCCTTTTGATTCTCATTTTGGGCCTAGGATTGTGTTGGAAAGATTATCTCCTTCCTTCCCACAGAGGGTCTGGAGGAGCTGGTGAAGCAGAAAGACTTTCTGGATGGGGTCTACGCATTCGAGTATTACCCCAGCACCCCGGGGAGATACAGCATTGCCATCACATGGGGGGGACACCACATTCCAAAGAGGTGAGGCTCCTGCTGCAGAGGGGTCTTCTCTGGAGGGTGCTCGGCCCAGGGCGGACTCATGGGTAGTTGCTTCCCGGGCTGCAGGAGGGAAAGAGATCTGCTTTGTTGAAAACTTTTTTTTTTTTTTTTTCGGAGCAGCACAGACATTTGGCCTGTTCTCAAAAGCAGCAGAAAGTTGCTGTGGTTTTAGCTGACTTGCTTTAAATCAAATGCTGGTGGTTAGGGGCTGGTGGGAGGCAGGGGAGGCAGAAGGAGCAGTTAGAGCAAATGGGCTGTGTGTCTAGATGCCCGCATATAAACTGAGATTCTCTTTTTCAATGAACTCCTTTGTTCATGAATGCCACGGGGCAGAATCTGCTGTGGTTTACATTAAGACCGTCTACGTGAGTGCTGTCAGGGGCCAAGGGACGCAGTCTACAGCTTTGCCTTGTGGGCATTGCACTTGCCCCTCTGCGTTCTGTGTTTTCCAGCTCCCCTGGAGGTGCAACTTTAAACTCCGAATAAATTCAGTTAGCCTTGAGAAATATTTGGGCATTATTGGGTTCCGAATACCTACCACGCTTTTTTTTTTAAGCCTCCCATGCCAAGGTTACAGCACATTCATTCATGTATGAGATAAAGCCCATTCAACCAAGTTTTCTGGTTATAGCATAAGCAGGATATAGTGTGTGGACTCTCTCACTTTCCAGGGTCATAGTCTGGGGAGGCCTGCACACAAAGGTAAAGGGCCAGGAGGCTGGTGCAAAGCAGCGTGGCTTGAGTGCCAACCCAGTGGCCACCTGAGCTCCCAGAAGCAGTCACATTACATTATATTGTTGACATAACAGTAGCTATGGGTGAGAGGCCTGCAGGAGGAAGGGCTTGGCTGCAGTTTGGGATGCCAGATGAAAGGATCAGGCAAGTGGAAAGAATGTGCAAAGGAACTGCAGCTTATGGCTATAGTGACACCTTACTTTACTCTTCTTTGATGCTTCTTCTATTCCTTTCCCTGTAGCCCCTTTGAAGTTCAAGTTGGCCCTGAAGCGGGTATGCAGAAAGTCCGTGCTTGGGGCCCTGGGCTCCATGGTGGGATTGTCGGGCGGTCAGCGGACTTCGTGGTAGAATCCATTGGCTCTGAAGTGGGGTCTCTGGGTAAGTGGACACAGCTGACCAGCATCTTCTGGAGGACTGAGGATTACAGGGCTTCCGGGCTGTGTCAGGCTGGATGTTGGGGCCTTGCCTAGCCTCAATACCTTTAGCTTCCTGGCCTCCTGGCCACCCTAAGCCATCTCTGCGTGCTGCTGTACATTTGCAGTTGCCTCTGATACCAGCATTGATTCATTCAGGAGACCTTGAGGGCAGAAACCTTATGTGGGTATTGTGCCTAAAACAATGCTTGGAACGTAGTAAACACTTAGCAAATAGTGTTGACTGACCTTTATAGTTTAGATGAATGAATGAATGAATTTTGCTGAAATTTGGATTTGGAAGATAAATATTTCCTTTGGAGCACAGCTGAAGTATATTTTAAATACATGTCTAATGTATATATGATCATTTTATATCAGGAGTCAGCCAGCTTTTTCTATAAAAGGCCAGATGGCAAATATTTTCCACCTGTGGGCCTTATGGTCTCTGTCACAGTTATTTGACTCTGCCGTTGTAGCCTGAAAGCAGCTATAGGAATACGTAAACAAACGTGTGTGGCCATGTTCCAGTAAAACTTTATTTGCAAAAGTAAGCAATGGGCCAGATGTGGCCTTCAGACTGTCGTTTAGCAACCCGTTTTAGGTAATAGCAATAAGCAAAAGAGAAAAATAAGAAATCACATTTAATTTTCCCTTCTAGAGAGATGATATGAATCGTCTTGTATATTCTTAGTCTAGAGATAATATTAAGTCTTTTAGTGTATCCTTCTAGACTTTTTTCTCTATATATGCATGCAAATATTGATTTGGTACAGAAAATATCTTAGACAAGTCTTTATATCTTTATGCGTAAATATAGGGTATGCCTTCATTTTCCATAGCTTCCATGGAATTC
ACAAAGTTATATTGTGTCTGTATTTGCTAGCCTGGTGTGCTCCCTGAGTGGGACCCCTGGTCTTGGGCAACTACTGCATACTATTTGTGCAAAGCAAATATTTTCTTGGCGGGTGGCTCCAGGTTACCTTGGCTTTCACGACTCTGACTAAAGAATGAAAGATTGAATTGATGTCAAAACTGTGCTTGCAGCCTGCAATCCAAATGCCTGCCGGGCCAGTGGCCGAGGCCTACAACCCAAAGGCGTCCGTATCCGGGAGACCACAGATTTCAAGGTTGACACCAAAGCTGCAGGAAGTGGGGAGCTCGGTGTAACCATGAAGGGTCCTAGTAAGTGTTCCTTTGTTTCTCTATCTCAGGTGTGGTTTTGGCTAACTTTGCAGCCATGGCATATGGATTTCATCCCACGGCCAGTTGTCCTCAATAATCCCAGAAGGCTATGTCAAGGATTTGAGGCTATCTGGGCTCCTTGGGGAAGACGGCAGTGATTGATTAGTAATGTCTGCCCTGGATGCGGCCAGTGGGTGGCTTGACAGCTTTACATTACATCAAGACTTCTGGGAGTAGAAAAAGCAGTGATGTAAAGGAGTTGGGGAAATGCTGCTGTTGGAACAAGTGGCTCATTTTTTATTTTAGACATCTGGGCTCAGAGAGGAAGGCTCTTGCCTAAGGTCATACAGCGTTTGTAATCATCTGAGCTGGAATTCAAGCACAGTCTCCAAAGCCAGTGATTTTCCCACTACAGGTTACATTTTATAGAGTATGAAATTATGTCAAGTACTTAATTACTATGATCAGTGCTTATAGAAGGAGAATAAAATTCCCTAAGATTAAGTTTTCTTTGTAGATAAATGCCATTTGTGGAGGTACAGGTTAAACCCTGCAACCCATTCTCTCTCCCTCTTTTGGGGAAGGAGACAGCAGATGTGGGGATGGGTGTCTTCACTTTTTTCGTTGGAACAGAGAAGCATTTCAGCACTTCTAGTCTCGGGTGTAGCAGCCTTTGGTGGTTTTACTCCCATGCCTGTGGAATCTTGAGCTTCCTGTACCAGGATTGCTCTTACCTTCTGTGTTCCCAACAGGCTGGGGCAGGAGCATTCTGAGCTCCAGAAAGTTAATATTTGACTTCACAGCACCAGGCTTTGGGTCAGGCTGTGCCCTGAGGGTAGCCGAGGTTCTAGACTGCCCAGACCTGGAGTCAAGCTGCTTGGGGACTGTCTTCCCTCCCAGATTATTCCAACAGGAGCCAAGGAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCACGCGCGTGCATGCCTCTGCGTATGTGTGCGTACGTGTGTGTTTTCTCCTGACCTTGAATACTTGCTTGACTCAACGGCTTTCCTGGCCAAACCTCAGGGCTCAACACAAAACAAGTTCCTGCCTGATGGCTGGGTTTGGAGTTTGCAGCGTCACATCTAAAACCTGTCCTCTTGCAGATAGCGTCTGAGGACTTTCTTGCTTTTGTTGTCCAGCTTTAGATGGAAAAGTATACGCTGGAACACTGAACCTAAAACTCATACCAAATACTTCTAAAGGTTTACTTCTTCCCCAGTTTTTGTGGGGGACTAGGAAGGGTAGCTATGATTATTGGGAAATACTGAAATGTGACTGGATTTATCTTTATGCAGGCCCAGGGAGTTCAGGACCTCAGGGCCCCTCGTAGCCAAGCAAGATTTCTAAAGCCAATTAGCTGGGAAATCCTCCATTTCCTCATACCTTGAAGCAGAGATGGCTGTGTTTTTAGCTTTGAAATAATCTCCCAGGCTTTGAGGGGAGAGGTCCCATACTCTGGGGCAGCCCACTTGGTTTTTATGTATGGTTTATGTTTTGTTCAGTGTGGCTGCCTCTCTGTTCTTGTCCTTTTGATTCTCATTTTGGGCCTAGGATTGTGTTGGAAAGATTATCTCCTTCCTTCCCACAGAGGGTCTGGAGGAGCTGGTGAAGCAGAAAGACTTTCTGGATGGGGTCTACGCATTCGAGTATTACCCCAGCACCCCGGGGAGATACAGCATTGCCATCACATGGGGGGGGACACCACATTCCAAAGAGGTGAGGCTCCTGCTGCAGAGGGGTCTTCTCTGGAGGGTGCTCGGCCCAGGGCGGACTCATGGGTAGTTGCTTCCCGGGCTGCAGGAGGGAAAGAGATCTGCTTTGTTGAAAACTTTTTTTTTTTTTTTTTCGGAGCAGCACAGACATTTGGCCTGTTCTCAAAAGCAGCAGAAAGTTGCTGTGGTTTTAGCTGACTTGCTTTAAATCAAATGCTGGTGGTTAGGGGCTGGTGGGAGGCAGGGGAGGCAGAAGGAGCAGTTAGAGCAAATGGGCTGTGTGTCTAGATGCCCGCATATAAACTGAGATTCTCTTTTTCAATGAACTCCTTTGTTCATGAATGCCACGGGGCAGAATCTGCTGTGGTTTACATTAAGACCGTCTACGTGAGTGCTGTCAGGGGCCAAGGGACGCAGTCTACAGCTTTGCCTTGTGGGCATTGCACTTGCCCCTCTGCGTTCTGTGTTTTCCAGCTCCCCTGGAGGTGCAACTTTAAACTCCGAATAAATTCAGTTAGCCTTGAGAAATATTTGGGCATTATTGGGTTCCGAATACCTACCACGCTTTTTTTTTTAAGCCTCCCATGCCAAGGTTACAGCACATTCATTCATGTATGAGATAAAGCCCATTCAACCAAGTTTTCTGGTTATAGCATAAGCAGGATATAGTGTGTGGACTCTCTCACTTTCCAGGGTCATAGTCTGGGGAGGCCTGCACACAAAGGTAAAGGGCCAGGAGGCTGGTGCAAAGCAGCGTGGCTTGAGTGCCAACCCAGTGGCCACCTGAGCTCCCAGAAGCAGTCACATTACATTATATTGTTGACATAACAGTAGCTATGGGTGAGAGGCCTGCAGGAGGAAGGGCTTGGCTGCAGTTTGGGATGCCAGATGAAAGGATCAGGCAAGTGGAAAGAATGTGCAAAGGAACTGCAGCTTATGGCTATAGTGACACCTTACTTTACTCTTCTTTGATGCTTCTTCTATTCCTTTCCCTGTAGCCCCTTTGAAGTTCAAGTTGGCCCTGAAGCGGGTATGCAGAAAGTCCGTGCTTGGGGCCCTGGGCTCCATGGTGGGATTGTCGGGCGGTCAGCGGACTTCGTGGTAGAATCCATTGGCTCTGAAGTGGGGTCTCTGGGTAAGTGGACACAGCTGACCAGCATCTTCTGGAGGACTGAGGATTACAGGGCTTCCGGGCTGTGTCAGGCTGGATGTTGGGGCCTTGCCTAGCCTCAATACCTTTAGCTTCCTGGCCTCCTGGCCACCCTAAGCCATCTCTGCGTGCTGCTGTACATTTGCAGTTGCCTCTGATACCAGCATTGATTCATTCAGGAGACCTTGAGGGCAGAAACCTTATGTGGGTATTGTGCCTAAAACAATGCTTGGAACGTAGTAAACACTTAGCAAATAGTGTTGACTGACCTTTATAGTTTAGATGAATGAATGAATGAATTTTGCTGAAATTTGGATTTGGAAGATAAATATTTCCTTTGGAGCACAGCTGAAGTATATTTTAAATACATGTCTAATGTATATATGATCATTTTATATCAGGAGTCAGCCAGCTTTTTCTATAAAAGGCCAGATGGCAAATATTTTCCACCTGTGGGCCTTATGGTCTCTGTCACAGTTATTTGACTCTGCCGTTGTAGCCTGAAAGCAGCTATAGGAATACGTAAACAAACGTGTGTGGCCATGTTCCAGTAAAACTTTATTTGCAAAAGTAAGCAATGGGCCAGATGTGGCCTTCAGACTGTCGTTTAGCAACCCGTTTTAGGTAATAGCAATAAGCAAAAGAGAAAAATAAGAAATCACATTTAATTTTCCCTTCTAGAGAGATGATATGAATCGTCTTGTATATTCTTAGTCTAGAGATAATATTAAGTCTTTTAGTGTATCCTTCTAGACTTTTTTCTCTATATATGCATGCAAATATTGATTTGGTACAGAAAATATCTTAGACAAGTCTTTATATCTTTATGCGTAAATATAGGGTATGCCTTCATTTTCCATAGCTTCCATGGAATT
pathogenic
70,470
Benign or pathogenic: chromosome 3, position 58108844, gene FLNB (filamin B) variant? Disease(s) if pathogenic?
benign
TGTGACGACGAAGACATCAAGGACAGCCCGTACATGGCCTTCATCCACCCAGCCACGGGAGGCTACAACCCTGATCTGGTGAATCAGCTGCTGTGCTTCTGTCTTCTTGTCCCTGGCCCCTGGTTCCTCACCCCCATGCCCGAAGTTGCCTTAAGCAGCATGTTGAGAGATGGCAGAGAGGAATCATTTGGATTTTAGGAAGGAAACAGGCCTGCATTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGACTCTTGCTCTGTCGCCCAGGCTGGGGTACGGTGGCATGATCACAGCTCACTGGAACCTCTGCCTCCTGGGTTCAAGTGATTCTCGTGCCTTAGCCTCCCAAGTAGCTGGAACTACAGGCATGTGCCACCACAGCTGGCTAATCTTTGTATTGTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCGCCTCGGCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCCACACCCAGCCCAGGCCTACATTTGAATCCTGGTAGTAGCACTTAGCACTTTTATAGTGTTGGGCAAGTAACTTACCTATCTGACTCTTGGTGTCTTCCTCTATAAGACAGGAATGATAGTAGTCTCTGCTTCTAGAGAGCTTCTAGGATGATTCAGGAGGTGGCATGCATAAAGACCGCCTTTGGCTTATGCCTGGCCCATGCAGGGAGCTCCATAAGCTGTTATTTTCTTGCAACTCCGGGGATCATATGTCAGTCTTACAGCCATTTTCTATAGTTATTATTTCAAGGTGCTCCATAGATAAAGGATTTTTTTTTCCTAGTTCCGTGTCTCTTAAGTTGGAGCAATGTTTCCAAGAGTGTCCTCTCAAACCCTTAGCAGGCTGATAAGCATCAAGTCTGAGCCAGCCTGGCTGACAGGGAGTTGGCCCCAGAGGCCACGTGTGCTACTGTTGGCCCACACGGGCAGCTGTCCATAGGCTGATGTCAGTCTGGGCTGGTAGCTACCCCGTTTTGGCCAAATGATATTCCTTTGCCCTCTAGGGCAAATGTTGTCCGTGGTAAAGATTCTGAGTCCCCTCAAAGTGGGAACGTTGAAACTGGGCATGACTAGAGGTCTCTGCCCCAGTTGTTAGAAGTTCTTTAGGTCAACTCAGAATAAGGCAGGGAGCATGGGTTAGTTTGGGCATGGTTTTAGAACAGGGGTTTCCAATATTTTGCCTTCCCTGGGCCACACTGGAAGGAGAAGAATTGTCTTGGGCCACACATAAAATACTAATGATAGCCGATGAACAAAAACAAAAACAAAAAAAAAATTGCAAAAAATTTTATAACATTTTAAGAAAGTTTACAAATTTGTGTTGGGCTGCATTCAAAGCCATCCTGGGCCGCATGCGGGCTTCAGGCCGTGGGTTGGATTTGTTTAGAGAGTTTTCTCCCTTATGAGGGAGAGACATTTGTTTTTAAGTTACAACCTACTTTAGCACTTTACTTCCCATAACCAACCTCTTATGTGGATACTGTAAAACCAGACACAGGTCATTTTGTTCTTCCCCCACCCCCTGGTTACCTGTCTTTGTATAAGGGTTTAGTTGGGGCATTACACAGAAAGAGACTTACTATCTGCCTTTGCTTCAGGTTCGAGCATACGGGCCAGGTTTGGAGAAATCTGGATGCATTGTCAACAACCTGGCCGAGTTCACTGTGGATCCTAAGGATGCTGGAAAAGCTCCCTTAAAGATATTTGCTCAGGTAAATTTCAGGGGGCCACCTGTGCAGGTAATTGTCAGGTAACAAGATCTGACCACGTAATGGCAAGTTGCTGAGTCCATCTGATCTTCAGTTTCCTCATCTGCACCGTGGAAATGATAAGAAGATTATCTTATAGGGTTATGTGAGGGTTCAGTGAGACTACCATGTAGAGTACTGGGCTTTAAAAAAATCAGCTTTCTGATTTATATTCTGTGGAAATGAGGCTTGTTTGTTTCAGGTTATTCTATAATGTCTTTTGGTGTGGCTGAAGCTGCTGAGGCCATGGGGGGAGATTTGTAAACAAGGATTTAAAAAGTATGTTTATTTAATCTAATTGAATTTGGCCAAAGGACTTAAATGCAGGAATTGAGTGGCCAAAGCTTTGTTTTTGGGTCACTTGCTCTTAATAACTAAAAATAAATAAATGCATGTCATATTTTGTCACTGGTTGTCACCGTGTTGTGAAAATATGGCACATTGTAGTTGGTCCATGAAGTTTTGTTGTATAAGCAAGTGGTGACTTGGCTGTCTTGGGAGGCCACAGTGACCCTGTCTGATAGAGACAGTGTGAGGGCCACCTCTGGTCCTAGCTCTGGCTTTTTTGCAGGATGGGGAAGGCCAACGCATTGACATCCAGATGAAGAACCGGATGGACGGCACATATGCATGCTCATACACCCCGGTGAAGGCCATCAAGCACACCATTGCTGTGGTCTGGGGAGGCGTGAACATCCCGCACAGCCCCTACAGGGTAGGTTGTGAGGCAGAATCCTGGCTGTTTTATGGAAATGCCTGGTCATACACCAGGTCTGGGATCCATGCCTGACAGCCAAGGCAGACATATGGAAGGAACCCATCCCTGGTGGGCCTTGAATGATGGAGGGGCCCGAAGGGCAGAGTGCTCCAGCCTGCTCAGAAGAACTATTTCTAACAATGTTTTTTAATAGTATTTTACTGGGTCCAAGTGGAGGAGAACTTGATGACCTTCTCCATGTCTTCTCTAGGTCAACATCGGGCAAGGTAGCCATCCTCAGAAGGTCAAAGTGTTTGGGCCAGGTGTGGAGAGAAGTGGTCTGAAGGCAAATGAACCTACACACTTCACGGTGGACTGTACTGAGGCTGGGGAAGGTGAGAAAGGGCTTTGTTCAACCCAGTGATCATTGCTCCGTGGGGAAGGCAGTTCTTTTCATAACGTTTCAATGCCTTTTGAACTAGGAAGTAGTCCATCTGAATAGGTAATCATCTACTGAGCCTCTGAGTCATTCCTTAGTGATATCTTTGCTAATCCATCATCCCTTTCCCCAAATCCTTACTCTTTCTCAGGTTTCTTACTAGAAACTTCCCAATTGCTTTTTGAGGGTGTTAACCTGAGCTGGAAGAGATTGCACAGGACATGCTGTTTCTTGTAAGCTGGTGCTAATAAGCTGGTCTGTTCCAGGTGATGTCAGTGTTGGCATTAAGTGTGATGCCCGGGTGTTAAGTGAAGATGAGGAAGACGTGGATTTTGACATTATTCACAATGCCAATGATACGTTCACAGTCAAATATGTGCCTCCTGCTGCTGGGCGATACACTATCAAAGTTCTCTTTGCATCTCAGGTACGTGGTGGGGCCTGGGAGGAGATGGGTGGAGTAGGCCTGGATTCTCTTTGGCCACTTGTGTGCATGTCTCATCTACTTTTTGGTGTTTTGTTAGTATTATTATTTTTGAGATGGAGTCTCACTCTTTCACCCAAGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGGACTACAGGCTCATACCACCACCCAGCTAATTTTTTTTTAATTTGTTTTTATTTTTTTATTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAAGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCACCACGCCTGGCTAATTTTTTTGTATTTTTATAGAAATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTTCTGACCTCAGATGATACGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCTAGGTGTGAGCCACCGTGCCTGGCCACTCAGCTAATTGTTTTGCATTTTTAGTAGAGACGGTTGCCCAGACTGCTCTCGAGCTCCTGACCTCAGGCCCACCTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACATTTGGCCTCCTTTTTGGTGTTTTACTGA
TGTGACGACGAAGACATCAAGGACAGCCCGTACATGGCCTTCATCCACCCAGCCACGGGAGGCTACAACCCTGATCTGGTGAATCAGCTGCTGTGCTTCTGTCTTCTTGTCCCTGGCCCCTGGTTCCTCACCCCCATGCCCGAAGTTGCCTTAAGCAGCATGTTGAGAGATGGCAGAGAGGAATCATTTGGATTTTAGGAAGGAAACAGGCCTGCATTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGACAGACTCTTGCTCTGTCGCCCAGGCTGGGGTACGGTGGCATGATCACAGCTCACTGGAACCTCTGCCTCCTGGGTTCAAGTGATTCTCGTGCCTTAGCCTCCCAAGTAGCTGGAACTACAGGCATGTGCCACCACAGCTGGCTAATCTTTGTATTGTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCGCCTCGGCCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCCACACCCAGCCCAGGCCTACATTTGAATCCTGGTAGTAGCACTTAGCACTTTTATAGTGTTGGGCAAGTAACTTACCTATCTGACTCTTGGTGTCTTCCTCTATAAGACAGGAATGATAGTAGTCTCTGCTTCTAGAGAGCTTCTAGGATGATTCAGGAGGTGGCATGCATAAAGACCGCCTTTGGCTTATGCCTGGCCCATGCAGGGAGCTCCATAAGCTGTTATTTTCTTGCAACTCCGGGGATCATATGTCAGTCTTACAGCCATTTTCTATAGTTATTATTTCAAGGTGCTCCATAGATAAAGGATTTTTTTTTCCTAGTTCCGTGTCTCTTAAGTTGGAGCAATGTTTCCAAGAGTGTCCTCTCAAACCCTTAGCAGGCTGATAAGCATCAAGTCTGAGCCAGCCTGGCTGACAGGGAGTTGGCCCCAGAGGCCACGTGTGCTACTGTTGGCCCACACGGGCAGCTGTCCATAGGCTGATGTCAGTCTGGGCTGGTAGCTACCCCGTTTTGGCCAAATGATATTCCTTTGCCCTCTAGGGCAAATGTTGTCCGTGGTAAAGATTCTGAGTCCCCTCAAAGTGGGAACGTTGAAACTGGGCATGACTAGAGGTCTCTGCCCCAGTTGTTAGAAGTTCTTTAGGTCAACTCAGAATAAGGCAGGGAGCATGGGTTAGTTTGGGCATGGTTTTAGAACAGGGGTTTCCAATATTTTGCCTTCCCTGGGCCACACTGGAAGGAGAAGAATTGTCTTGGGCCACACATAAAATACTAATGATAGCCGATGAACAAAAACAAAAACAAAAAAAAAATTGCAAAAAATTTTATAACATTTTAAGAAAGTTTACAAATTTGTGTTGGGCTGCATTCAAAGCCATCCTGGGCCGCATGCGGGCTTCAGGCCGTGGGTTGGATTTGTTTAGAGAGTTTTCTCCCTTATGAGGGAGAGACATTTGTTTTTAAGTTACAACCTACTTTAGCACTTTACTTCCCATAACCAACCTCTTATGTGGATACTGTAAAACCAGACACAGGTCATTTTGTTCTTCCCCCACCCCCTGGTTACCTGTCTTTGTATAAGGGTTTAGTTGGGGCATTACACAGAAAGAGACTTACTATCTGCCTTTGCTTCAGGTTCGAGCATACGGGCCAGGTTTGGAGAAATCTGGATGCATTGTCAACAACCTGGCCGAGTTCACTGTGGATCCTAAGGATGCTGGAAAAGCTCCCTTAAAGATATTTGCTCAGGTAAATTTCAGGGGGCCACCTGTGCAGGTAATTGTCAGGTAACAAGATCTGACCACGTAATGGCAAGTTGCTGAGTCCATCTGATCTTCAGTTTCCTCATCTGCACCGTGGAAATGATAAGAAGATTATCTTATAGGGTTATGTGAGGGTTCAGTGAGACTACCATGTAGAGTACTGGGCTTTAAAAAAATCAGCTTTCTGATTTATATTCTGTGGAAATGAGGCTTGTTTGTTTCAGGTTATTCTATAATGTCTTTTGGTGTGGCTGAAGCTCTGAGGCCATGGGGGGAGATTTGTAAACAAGGATTTAAAAAGTATGTTTATTTAATCTAATTGAATTTGGCCAAAGGACTTAAATGCAGGAATTGAGTGGCCAAAGCTTTGTTTTTGGGTCACTTGCTCTTAATAACTAAAAATAAATAAATGCATGTCATATTTTGTCACTGGTTGTCACCGTGTTGTGAAAATATGGCACATTGTAGTTGGTCCATGAAGTTTTGTTGTATAAGCAAGTGGTGACTTGGCTGTCTTGGGAGGCCACAGTGACCCTGTCTGATAGAGACAGTGTGAGGGCCACCTCTGGTCCTAGCTCTGGCTTTTTTGCAGGATGGGGAAGGCCAACGCATTGACATCCAGATGAAGAACCGGATGGACGGCACATATGCATGCTCATACACCCCGGTGAAGGCCATCAAGCACACCATTGCTGTGGTCTGGGGAGGCGTGAACATCCCGCACAGCCCCTACAGGGTAGGTTGTGAGGCAGAATCCTGGCTGTTTTATGGAAATGCCTGGTCATACACCAGGTCTGGGATCCATGCCTGACAGCCAAGGCAGACATATGGAAGGAACCCATCCCTGGTGGGCCTTGAATGATGGAGGGGCCCGAAGGGCAGAGTGCTCCAGCCTGCTCAGAAGAACTATTTCTAACAATGTTTTTTAATAGTATTTTACTGGGTCCAAGTGGAGGAGAACTTGATGACCTTCTCCATGTCTTCTCTAGGTCAACATCGGGCAAGGTAGCCATCCTCAGAAGGTCAAAGTGTTTGGGCCAGGTGTGGAGAGAAGTGGTCTGAAGGCAAATGAACCTACACACTTCACGGTGGACTGTACTGAGGCTGGGGAAGGTGAGAAAGGGCTTTGTTCAACCCAGTGATCATTGCTCCGTGGGGAAGGCAGTTCTTTTCATAACGTTTCAATGCCTTTTGAACTAGGAAGTAGTCCATCTGAATAGGTAATCATCTACTGAGCCTCTGAGTCATTCCTTAGTGATATCTTTGCTAATCCATCATCCCTTTCCCCAAATCCTTACTCTTTCTCAGGTTTCTTACTAGAAACTTCCCAATTGCTTTTTGAGGGTGTTAACCTGAGCTGGAAGAGATTGCACAGGACATGCTGTTTCTTGTAAGCTGGTGCTAATAAGCTGGTCTGTTCCAGGTGATGTCAGTGTTGGCATTAAGTGTGATGCCCGGGTGTTAAGTGAAGATGAGGAAGACGTGGATTTTGACATTATTCACAATGCCAATGATACGTTCACAGTCAAATATGTGCCTCCTGCTGCTGGGCGATACACTATCAAAGTTCTCTTTGCATCTCAGGTACGTGGTGGGGCCTGGGAGGAGATGGGTGGAGTAGGCCTGGATTCTCTTTGGCCACTTGTGTGCATGTCTCATCTACTTTTTGGTGTTTTGTTAGTATTATTATTTTTGAGATGGAGTCTCACTCTTTCACCCAAGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGGACTACAGGCTCATACCACCACCCAGCTAATTTTTTTTTAATTTGTTTTTATTTTTTTATTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAAGCTGGAGTGCAATGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCACCACGCCTGGCTAATTTTTTTGTATTTTTATAGAAATGGGGTTTCACCATGTTAGCCAGGCTGGTCTCAAACTTCTGACCTCAGATGATACGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCTAGGTGTGAGCCACCGTGCCTGGCCACTCAGCTAATTGTTTTGCATTTTTAGTAGAGACGGTTGCCCAGACTGCTCTCGAGCTCCTGACCTCAGGCCCACCTGGCCTCCCAAAGTGTTGGGATTATAGGCATGAGCCACCACATTTGGCCTCCTTTTTGGTGTTTTACTGAN
benign
70,488
Evaluate this variant at chromosome 3, position 58123703, gene FLNB (filamin B): benign or pathogenic? If pathogenic, what are the disease connection(s)?
benign
GGTCACAACCCTGCTCCTCCTCTTGCTCTCTGACTACAAGACTTTGGTGAGGGGCTCCCTGTCCCAGAGTCTTCTTTCTTCGCTTGTTAGCATAATCACAGTCCTCACTACAAAGCCAGCCTGTAAGGGGTAGGTGAGTTAGCAAACGTGGAGGCCTCTGCCCAGCACCCAGCTCACAGACGGAGCTCACCCTCCAGAAGCTAGAATCATGTAATATAAAAATACATTATTCTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTACCACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACCACAAAAAAAAACATTATTCTTGGCTGGGCGCAGCGGCTCACGCCTGTAATCACTGCACTTTGGGAGGCCAAGGTGGATGGATAACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAGATTAGCTGGGTGTGGTGACGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGATAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCCCCTCCAAAAAAAAAAAAAAAAGTTCATCGTCATTTCTTCATAGTAACCCTGACTCAAGGGGTTTTGGAAGATTTCCAGTGGTCTCAATGGTGTGAATCCTATGAAGGTGTCTTATTTGTTGAATTAGAGGTGAAAGCCTCCTTCCTCACTCTTTTTTAGAAACAGTTTAGTTTTATTATTATGCAGAATTTGTTGAGCAAATTGCAACAGCCCAAGCCACAGCTAGCTCCACAAGAGCCCTTCCATGAGCCCTCAACCTGGGATCTCGTGTATCTTTGTTGGAATGGACATTAGGTTTCCAAGTCCAGGCCTGTGATTTAGAAGGGTCAGGTTGGGTAGGAGAGAGGAGAGTCTTGGAGGGGCTGCTCCATGGGGGTCACACCTCTCTCCTGTGGGTTTTCGCTGGTGATTGAGTTCTGAGGCATTTGCTGCATTGACTGTTGTAGCTTTAACTCGTGTGCACGTGTGACACATAAAGCCCCAAGAGAAGGGCTGCCTGGCTCAGATGCACTTCCATGCTGATTATATGCATGGGTGTTGAAAGCAGTGCTGGCTGAGCAGCGATCCCAGTGCAGTTTGACTTTATTCTTTGCTCAAATAGGTGAAGGCCCACGGTCCCGGCCTCGAAGGTGGTCTCGTGGGCAAGCCTGCCGAGTTCACCATCGATACCAAAGGAGCTGGTACTGGAGGTCTGGGCTTAACGGTGGAAGGTCCGTGCGAGGCCAAAATCGAGTGCTCCGACAATGGTGATGGGACCTGCTCCGTCTCTTACCTTCCCACAAAACCCGGGGAGTACTTCGTCAACATCCTCTTTGAAGAAGTCCACATACCTGGGTCTCCCTTCAAAGCTGACATTGAAATGCCCTTTGACCCCTCTAAAGTCGTGGCATCGGGGCCAGGTCTCGAGCACGGGAAGGTGGGTGAAGCTGGCCTCCTTAGCGTCGACTGCTCGGAAGCGGGACCGGGGGCCCTGGGCCTGGAAGCTGTCTCGGACTCGGGAACAAAAGCCGAAGTCAGTATTCAGAACAACAAAGATGGCACCTACGCGGTGACCTACGTGCCCCTGACGGCCGGCATGTACACGTTGACCATGAAGTATGGTGGCGAACTCGTGCCACACTTCCCCGCCCGGGTCAAGGTGGAGCCCGCCGTGGACACCAGCAGGATCAAAGTCTTTGGACCAGGAATAGAAGGGAAAGGTGGGTTTCATTTAAAAAAAAAAAAAAAAAAAAAAAGACAAGCTGGGACTTAAGGGCTACCTGAAACTTGGAGCTGCAAACTCAGCCACCTGCAGGAGCCAGGTGACATATAAGGCGGTGCTCACCTGTTCCCTCTGCCTCGGGGAGTAGTTGGGGGGCCCTGGTGAAGGTTAAGCACATTGCATTTCTGGGGACCGTGCTACTCAACCCCTGTTTTCTGTTTCTCCATGGGGAACAGGACCTAGCATTGTCAGCAGAATCTCTAGTTTTTTGGCAAAGGCAGAAATCTTGATTTTTCTCTGGAAACTCAACATACAACATGTTGGCATTTAATTGGAAAAAAGTTTAAAATGTAGTGTTGTCTAACACCTGCATGCCACACAGCAGGTTAGTCTTCAACCTTTAACCTGTCCTCGAGCCCGGTGTGAGCAGTCGTGTTGTCACTTAGCCGTGGCTACTCTAGAAAGGCCTTCTTTGGGATGGAGGGGGTTAATATTCTTGATTTGAGAGTTAGAAAAACCAGTTTTCCAGTTACTGAAATTGGACTTCATGTGTCCTGAAGTGCCAAGAACCTTGGTTCTGGGGTTTGCTTTTGGGTCTGGGGTACTGGTGGCAGTGTTAGCTATGTGCTTGCTCTGCAGATGTGTTCCGGGAAGCTACCACCGACTTTACAGTTGACTCTCGGCCGCTGACCCAGGTTGGGGGTGACCACATCAAGGCCCACATTGCCAACCCCTCAGGGGCCTCCACCGAGTGCTTTGTCACAGACAATGCGGATGGGACCTACCAGGTGGAATACACACCCTTTGAGAAAGGTGAGCCGCCCTGTCCTCGGACTGGACCCTCGTTCAGAGCTGCCCTTGGTCATTGCCTCCTGGTGGCTGGTACTGATGCCTGCCCCATGTGCTAGGCCTGTCTCAGCAGGGCCACGTGCAGAGTGACAGAGTGGAAGTCAGCGTCCGCTGCAGTCACCTGCCCACTCAGTGCCTGGCTTGCTGGCCTTGTGTAATAGGTGGGCTGGGTTTAGCCTCAGTCTCACCTCAGCAAGTTATGGGGTAATGTCATGATGTTGCTCATTTGTGCCATTTTTCTTTGCGTATGAATTTCTTTCTTCTTGAGTATTAGGAATTATAAAAAATTTCAATAAATAGAAAACCATAAAGAAAAAAAAGTGCCATGTATATCTCCACTACCTGGAGATCGGAAGCCTGCGATATTCTGATATAGATATTTTCAGTCTTCTTGTGGATGCCTGTTTCTTCTGTTTCACGGGTTTCGCTTTTTCTTTTGGTTAATGGCTGGATGGTGTTTTCCCGAATGAGAGTAGTCTGTTTAGGATGACTGACTTGAATATTTGCTTGGTTGGGGTGGAGTGGCTTATGTGACTGCAGATAGACGGTTTGTATTATTTAAAAGTCAGATCATACCTACATTACTGTGGGATTGTTTTGTTTTGTTTTGAAACAGGATGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGGCTCAACCTCCTGGGCTCAAATGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGGAACTGCAGGTGTGCACCACCACACTCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTCTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTAAGCCACTGCCCCCAGCCACATTACTGTGTTTTTAACCCCCTTTTCCAAATAACATAGTATAGCATGCAGACTTCGATGCTAGATGAAACTCTGAAGTAGAGAATCATTTTTCACAAATAGGGGATTTGTATGCAAATATGCGTTTCTGTTTGTTGTTTTGAGCAGGTCTCCATGTAGTGGAGGTGACATATGATGACGTGCCTATCCCAAACAGTCCCTTCAAGGTGGCTGTCACTGAAGGCTGCCAGCCATCTAGGGTGCAAGCCCAAGGACCTGGATTGAAAGAGGCCTTTACCAACAAGCCCAATGTCTTCACCGTGGTTACCAGGTAGGCA
GGTCACAACCCTGCTCCTCCTCTTGCTCTCTGACTACAAGACTTTGGTGAGGGGCTCCCTGTCCCAGAGTCTTCTTTCTTCGCTTGTTAGCATAATCACAGTCCTCACTACAAAGCCAGCCTGTAAGGGGTAGGTGAGTTAGCAAACGTGGAGGCCTCTGCCCAGCACCCAGCTCACAGACGGAGCTCACCCTCCAGAAGCTAGAATCATGTAATATAAAAATACATTATTCTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTACCACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACCACAAAAAAAAACATTATTCTTGGCTGGGCGCAGCGGCTCACGCCTGTAATCACTGCACTTTGGGAGGCCAAGGTGGATGGATAACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAGATTAGCTGGGTGTGGTGACGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGATAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCCCCTCCAAAAAAAAAAAAAAAAGTTCATCGTCATTTCTTCATAGTAACCCTGACTCAAGGGGTTTTGGAAGATTTCCAGTGGTCTCAATGGTGTGAATCCTATGAAGGTGTCTTATTTGTTGAATTAGAGGTGAAAGCCTCCTTCCTCACTCTTTTTTAGAAACAGTTTAGTTTTATTATTATGCAGAATTTGTTGAGCAAATTGCAACAGCCCAAGCCACAGCTAGCTCCACAAGAGCCCTTCCATGAGCCCTCAACCTGGGATCTCGTGTATCTTTGTTGGAATGGACATTAGGTTTCCAAGTCCAGGCCTGTGATTTAGAAGGGTCAGGTTGGGTAGGAGAGAGGAGAGTCTTGGAGGGGCTGCTCCATGGGGGTCACACCTCTCTCCTGTGGGTTTTCGCTGGTGATTGAGTTCTGAGGCATTTGCTGCATTGACTGTTGTAGCTTTAACTCGTGTGCACGTGTGACACATAAAGCCCCAAGAGAAGGGCTGCCTGGCTCAGATGCACTTCCATGCTGATTATATGCATGGGTGTTGAAAGCAGTGCTGGCTGAGCAGCGATCCCAGTGCAGTTTGACTTTATTCTTTGCTCAAATAGGTGAAGGCCCACGGTCCCGGCCTCGAAGGTGGTCTCGTGGGCAAGCCTGCCGAGTTCACCATCGATACCAAAGGAGCTGGTACTGGAGGTCTGGGCTTAACGGTGGAAGGTCCGTGCGAGGCCAAAATCGAGTGCTCCGACAATGGTGATGGGACCTGCTCCGTCTCTTACCTTCCCACAAAACCCGGGGAGTACTTCGTCAACATCCTCTTTGAAGAAGTCCACATACCTGGGTCTCCCTTCAAAGCTGACATTGAAATGCCCTTTGACCCCTCTAAAGTCGTGGCATCGGGGCCAGGTCTCGAGCACGGGAAGGTGGGTGAAGCTGGCCTCCTTAGCGTCGACTGCTCGGAAGCGGGACCGGGGGCCCTGGGCCTGGAAGCTGTCTCGGACTCGGGAACAAAAGCCGAAGTCAGTATTCAGAACAACAAAGATGGCACCTACGCGGTGACCTACGTGCCCCTGACGGCCGGCATGTACACGTTGACCATGAAGTATGGTGGCGAACTCGTGCCACACTTCCCCGCCCGGGTCAAGGTGGAGCCCGCCGTGGACACCAGCAGGATCAAAGTCTTTGGACCAGGAATAGAAGGGAAAGGTGGGTTTCATTTAAAAAAAAAAAAAAAAAAAAAAGACAAGCTGGGACTTAAGGGCTACCTGAAACTTGGAGCTGCAAACTCAGCCACCTGCAGGAGCCAGGTGACATATAAGGCGGTGCTCACCTGTTCCCTCTGCCTCGGGGAGTAGTTGGGGGGCCCTGGTGAAGGTTAAGCACATTGCATTTCTGGGGACCGTGCTACTCAACCCCTGTTTTCTGTTTCTCCATGGGGAACAGGACCTAGCATTGTCAGCAGAATCTCTAGTTTTTTGGCAAAGGCAGAAATCTTGATTTTTCTCTGGAAACTCAACATACAACATGTTGGCATTTAATTGGAAAAAAGTTTAAAATGTAGTGTTGTCTAACACCTGCATGCCACACAGCAGGTTAGTCTTCAACCTTTAACCTGTCCTCGAGCCCGGTGTGAGCAGTCGTGTTGTCACTTAGCCGTGGCTACTCTAGAAAGGCCTTCTTTGGGATGGAGGGGGTTAATATTCTTGATTTGAGAGTTAGAAAAACCAGTTTTCCAGTTACTGAAATTGGACTTCATGTGTCCTGAAGTGCCAAGAACCTTGGTTCTGGGGTTTGCTTTTGGGTCTGGGGTACTGGTGGCAGTGTTAGCTATGTGCTTGCTCTGCAGATGTGTTCCGGGAAGCTACCACCGACTTTACAGTTGACTCTCGGCCGCTGACCCAGGTTGGGGGTGACCACATCAAGGCCCACATTGCCAACCCCTCAGGGGCCTCCACCGAGTGCTTTGTCACAGACAATGCGGATGGGACCTACCAGGTGGAATACACACCCTTTGAGAAAGGTGAGCCGCCCTGTCCTCGGACTGGACCCTCGTTCAGAGCTGCCCTTGGTCATTGCCTCCTGGTGGCTGGTACTGATGCCTGCCCCATGTGCTAGGCCTGTCTCAGCAGGGCCACGTGCAGAGTGACAGAGTGGAAGTCAGCGTCCGCTGCAGTCACCTGCCCACTCAGTGCCTGGCTTGCTGGCCTTGTGTAATAGGTGGGCTGGGTTTAGCCTCAGTCTCACCTCAGCAAGTTATGGGGTAATGTCATGATGTTGCTCATTTGTGCCATTTTTCTTTGCGTATGAATTTCTTTCTTCTTGAGTATTAGGAATTATAAAAAATTTCAATAAATAGAAAACCATAAAGAAAAAAAAGTGCCATGTATATCTCCACTACCTGGAGATCGGAAGCCTGCGATATTCTGATATAGATATTTTCAGTCTTCTTGTGGATGCCTGTTTCTTCTGTTTCACGGGTTTCGCTTTTTCTTTTGGTTAATGGCTGGATGGTGTTTTCCCGAATGAGAGTAGTCTGTTTAGGATGACTGACTTGAATATTTGCTTGGTTGGGGTGGAGTGGCTTATGTGACTGCAGATAGACGGTTTGTATTATTTAAAAGTCAGATCATACCTACATTACTGTGGGATTGTTTTGTTTTGTTTTGAAACAGGATGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGGCTCAACCTCCTGGGCTCAAATGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGGAACTGCAGGTGTGCACCACCACACTCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTCTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTAAGCCACTGCCCCCAGCCACATTACTGTGTTTTTAACCCCCTTTTCCAAATAACATAGTATAGCATGCAGACTTCGATGCTAGATGAAACTCTGAAGTAGAGAATCATTTTTCACAAATAGGGGATTTGTATGCAAATATGCGTTTCTGTTTGTTGTTTTGAGCAGGTCTCCATGTAGTGGAGGTGACATATGATGACGTGCCTATCCCAAACAGTCCCTTCAAGGTGGCTGTCACTGAAGGCTGCCAGCCATCTAGGGTGCAAGCCCAAGGACCTGGATTGAAAGAGGCCTTTACCAACAAGCCCAATGTCTTCACCGTGGTTACCAGGTAGGCAN
benign
70,520
Does the variant impacting FLNB (filamin B) on chromosome 3, position 58123703, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
GGTCACAACCCTGCTCCTCCTCTTGCTCTCTGACTACAAGACTTTGGTGAGGGGCTCCCTGTCCCAGAGTCTTCTTTCTTCGCTTGTTAGCATAATCACAGTCCTCACTACAAAGCCAGCCTGTAAGGGGTAGGTGAGTTAGCAAACGTGGAGGCCTCTGCCCAGCACCCAGCTCACAGACGGAGCTCACCCTCCAGAAGCTAGAATCATGTAATATAAAAATACATTATTCTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTACCACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACCACAAAAAAAAACATTATTCTTGGCTGGGCGCAGCGGCTCACGCCTGTAATCACTGCACTTTGGGAGGCCAAGGTGGATGGATAACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAGATTAGCTGGGTGTGGTGACGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGATAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCCCCTCCAAAAAAAAAAAAAAAAGTTCATCGTCATTTCTTCATAGTAACCCTGACTCAAGGGGTTTTGGAAGATTTCCAGTGGTCTCAATGGTGTGAATCCTATGAAGGTGTCTTATTTGTTGAATTAGAGGTGAAAGCCTCCTTCCTCACTCTTTTTTAGAAACAGTTTAGTTTTATTATTATGCAGAATTTGTTGAGCAAATTGCAACAGCCCAAGCCACAGCTAGCTCCACAAGAGCCCTTCCATGAGCCCTCAACCTGGGATCTCGTGTATCTTTGTTGGAATGGACATTAGGTTTCCAAGTCCAGGCCTGTGATTTAGAAGGGTCAGGTTGGGTAGGAGAGAGGAGAGTCTTGGAGGGGCTGCTCCATGGGGGTCACACCTCTCTCCTGTGGGTTTTCGCTGGTGATTGAGTTCTGAGGCATTTGCTGCATTGACTGTTGTAGCTTTAACTCGTGTGCACGTGTGACACATAAAGCCCCAAGAGAAGGGCTGCCTGGCTCAGATGCACTTCCATGCTGATTATATGCATGGGTGTTGAAAGCAGTGCTGGCTGAGCAGCGATCCCAGTGCAGTTTGACTTTATTCTTTGCTCAAATAGGTGAAGGCCCACGGTCCCGGCCTCGAAGGTGGTCTCGTGGGCAAGCCTGCCGAGTTCACCATCGATACCAAAGGAGCTGGTACTGGAGGTCTGGGCTTAACGGTGGAAGGTCCGTGCGAGGCCAAAATCGAGTGCTCCGACAATGGTGATGGGACCTGCTCCGTCTCTTACCTTCCCACAAAACCCGGGGAGTACTTCGTCAACATCCTCTTTGAAGAAGTCCACATACCTGGGTCTCCCTTCAAAGCTGACATTGAAATGCCCTTTGACCCCTCTAAAGTCGTGGCATCGGGGCCAGGTCTCGAGCACGGGAAGGTGGGTGAAGCTGGCCTCCTTAGCGTCGACTGCTCGGAAGCGGGACCGGGGGCCCTGGGCCTGGAAGCTGTCTCGGACTCGGGAACAAAAGCCGAAGTCAGTATTCAGAACAACAAAGATGGCACCTACGCGGTGACCTACGTGCCCCTGACGGCCGGCATGTACACGTTGACCATGAAGTATGGTGGCGAACTCGTGCCACACTTCCCCGCCCGGGTCAAGGTGGAGCCCGCCGTGGACACCAGCAGGATCAAAGTCTTTGGACCAGGAATAGAAGGGAAAGGTGGGTTTCATTTAAAAAAAAAAAAAAAAAAAAAAAGACAAGCTGGGACTTAAGGGCTACCTGAAACTTGGAGCTGCAAACTCAGCCACCTGCAGGAGCCAGGTGACATATAAGGCGGTGCTCACCTGTTCCCTCTGCCTCGGGGAGTAGTTGGGGGGCCCTGGTGAAGGTTAAGCACATTGCATTTCTGGGGACCGTGCTACTCAACCCCTGTTTTCTGTTTCTCCATGGGGAACAGGACCTAGCATTGTCAGCAGAATCTCTAGTTTTTTGGCAAAGGCAGAAATCTTGATTTTTCTCTGGAAACTCAACATACAACATGTTGGCATTTAATTGGAAAAAAGTTTAAAATGTAGTGTTGTCTAACACCTGCATGCCACACAGCAGGTTAGTCTTCAACCTTTAACCTGTCCTCGAGCCCGGTGTGAGCAGTCGTGTTGTCACTTAGCCGTGGCTACTCTAGAAAGGCCTTCTTTGGGATGGAGGGGGTTAATATTCTTGATTTGAGAGTTAGAAAAACCAGTTTTCCAGTTACTGAAATTGGACTTCATGTGTCCTGAAGTGCCAAGAACCTTGGTTCTGGGGTTTGCTTTTGGGTCTGGGGTACTGGTGGCAGTGTTAGCTATGTGCTTGCTCTGCAGATGTGTTCCGGGAAGCTACCACCGACTTTACAGTTGACTCTCGGCCGCTGACCCAGGTTGGGGGTGACCACATCAAGGCCCACATTGCCAACCCCTCAGGGGCCTCCACCGAGTGCTTTGTCACAGACAATGCGGATGGGACCTACCAGGTGGAATACACACCCTTTGAGAAAGGTGAGCCGCCCTGTCCTCGGACTGGACCCTCGTTCAGAGCTGCCCTTGGTCATTGCCTCCTGGTGGCTGGTACTGATGCCTGCCCCATGTGCTAGGCCTGTCTCAGCAGGGCCACGTGCAGAGTGACAGAGTGGAAGTCAGCGTCCGCTGCAGTCACCTGCCCACTCAGTGCCTGGCTTGCTGGCCTTGTGTAATAGGTGGGCTGGGTTTAGCCTCAGTCTCACCTCAGCAAGTTATGGGGTAATGTCATGATGTTGCTCATTTGTGCCATTTTTCTTTGCGTATGAATTTCTTTCTTCTTGAGTATTAGGAATTATAAAAAATTTCAATAAATAGAAAACCATAAAGAAAAAAAAGTGCCATGTATATCTCCACTACCTGGAGATCGGAAGCCTGCGATATTCTGATATAGATATTTTCAGTCTTCTTGTGGATGCCTGTTTCTTCTGTTTCACGGGTTTCGCTTTTTCTTTTGGTTAATGGCTGGATGGTGTTTTCCCGAATGAGAGTAGTCTGTTTAGGATGACTGACTTGAATATTTGCTTGGTTGGGGTGGAGTGGCTTATGTGACTGCAGATAGACGGTTTGTATTATTTAAAAGTCAGATCATACCTACATTACTGTGGGATTGTTTTGTTTTGTTTTGAAACAGGATGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGGCTCAACCTCCTGGGCTCAAATGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGGAACTGCAGGTGTGCACCACCACACTCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTCTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTAAGCCACTGCCCCCAGCCACATTACTGTGTTTTTAACCCCCTTTTCCAAATAACATAGTATAGCATGCAGACTTCGATGCTAGATGAAACTCTGAAGTAGAGAATCATTTTTCACAAATAGGGGATTTGTATGCAAATATGCGTTTCTGTTTGTTGTTTTGAGCAGGTCTCCATGTAGTGGAGGTGACATATGATGACGTGCCTATCCCAAACAGTCCCTTCAAGGTGGCTGTCACTGAAGGCTGCCAGCCATCTAGGGTGCAAGCCCAAGGACCTGGATTGAAAGAGGCCTTTACCAACAAGCCCAATGTCTTCACCGTGGTTACCAGGTAGGCA
GGTCACAACCCTGCTCCTCCTCTTGCTCTCTGACTACAAGACTTTGGTGAGGGGCTCCCTGTCCCAGAGTCTTCTTTCTTCGCTTGTTAGCATAATCACAGTCCTCACTACAAAGCCAGCCTGTAAGGGGTAGGTGAGTTAGCAAACGTGGAGGCCTCTGCCCAGCACCCAGCTCACAGACGGAGCTCACCCTCCAGAAGCTAGAATCATGTAATATAAAAATACATTATTCTGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTACCACGGTGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACCACAAAAAAAAACATTATTCTTGGCTGGGCGCAGCGGCTCACGCCTGTAATCACTGCACTTTGGGAGGCCAAGGTGGATGGATAACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAGATTAGCTGGGTGTGGTGACGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGATAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGATTCCGTCCCCTCCAAAAAAAAAAAAAAAAGTTCATCGTCATTTCTTCATAGTAACCCTGACTCAAGGGGTTTTGGAAGATTTCCAGTGGTCTCAATGGTGTGAATCCTATGAAGGTGTCTTATTTGTTGAATTAGAGGTGAAAGCCTCCTTCCTCACTCTTTTTTAGAAACAGTTTAGTTTTATTATTATGCAGAATTTGTTGAGCAAATTGCAACAGCCCAAGCCACAGCTAGCTCCACAAGAGCCCTTCCATGAGCCCTCAACCTGGGATCTCGTGTATCTTTGTTGGAATGGACATTAGGTTTCCAAGTCCAGGCCTGTGATTTAGAAGGGTCAGGTTGGGTAGGAGAGAGGAGAGTCTTGGAGGGGCTGCTCCATGGGGGTCACACCTCTCTCCTGTGGGTTTTCGCTGGTGATTGAGTTCTGAGGCATTTGCTGCATTGACTGTTGTAGCTTTAACTCGTGTGCACGTGTGACACATAAAGCCCCAAGAGAAGGGCTGCCTGGCTCAGATGCACTTCCATGCTGATTATATGCATGGGTGTTGAAAGCAGTGCTGGCTGAGCAGCGATCCCAGTGCAGTTTGACTTTATTCTTTGCTCAAATAGGTGAAGGCCCACGGTCCCGGCCTCGAAGGTGGTCTCGTGGGCAAGCCTGCCGAGTTCACCATCGATACCAAAGGAGCTGGTACTGGAGGTCTGGGCTTAACGGTGGAAGGTCCGTGCGAGGCCAAAATCGAGTGCTCCGACAATGGTGATGGGACCTGCTCCGTCTCTTACCTTCCCACAAAACCCGGGGAGTACTTCGTCAACATCCTCTTTGAAGAAGTCCACATACCTGGGTCTCCCTTCAAAGCTGACATTGAAATGCCCTTTGACCCCTCTAAAGTCGTGGCATCGGGGCCAGGTCTCGAGCACGGGAAGGTGGGTGAAGCTGGCCTCCTTAGCGTCGACTGCTCGGAAGCGGGACCGGGGGCCCTGGGCCTGGAAGCTGTCTCGGACTCGGGAACAAAAGCCGAAGTCAGTATTCAGAACAACAAAGATGGCACCTACGCGGTGACCTACGTGCCCCTGACGGCCGGCATGTACACGTTGACCATGAAGTATGGTGGCGAACTCGTGCCACACTTCCCCGCCCGGGTCAAGGTGGAGCCCGCCGTGGACACCAGCAGGATCAAAGTCTTTGGACCAGGAATAGAAGGGAAAGGTGGGTTTCATTTAAAAAAAAAAAAAAAAAAAAAGACAAGCTGGGACTTAAGGGCTACCTGAAACTTGGAGCTGCAAACTCAGCCACCTGCAGGAGCCAGGTGACATATAAGGCGGTGCTCACCTGTTCCCTCTGCCTCGGGGAGTAGTTGGGGGGCCCTGGTGAAGGTTAAGCACATTGCATTTCTGGGGACCGTGCTACTCAACCCCTGTTTTCTGTTTCTCCATGGGGAACAGGACCTAGCATTGTCAGCAGAATCTCTAGTTTTTTGGCAAAGGCAGAAATCTTGATTTTTCTCTGGAAACTCAACATACAACATGTTGGCATTTAATTGGAAAAAAGTTTAAAATGTAGTGTTGTCTAACACCTGCATGCCACACAGCAGGTTAGTCTTCAACCTTTAACCTGTCCTCGAGCCCGGTGTGAGCAGTCGTGTTGTCACTTAGCCGTGGCTACTCTAGAAAGGCCTTCTTTGGGATGGAGGGGGTTAATATTCTTGATTTGAGAGTTAGAAAAACCAGTTTTCCAGTTACTGAAATTGGACTTCATGTGTCCTGAAGTGCCAAGAACCTTGGTTCTGGGGTTTGCTTTTGGGTCTGGGGTACTGGTGGCAGTGTTAGCTATGTGCTTGCTCTGCAGATGTGTTCCGGGAAGCTACCACCGACTTTACAGTTGACTCTCGGCCGCTGACCCAGGTTGGGGGTGACCACATCAAGGCCCACATTGCCAACCCCTCAGGGGCCTCCACCGAGTGCTTTGTCACAGACAATGCGGATGGGACCTACCAGGTGGAATACACACCCTTTGAGAAAGGTGAGCCGCCCTGTCCTCGGACTGGACCCTCGTTCAGAGCTGCCCTTGGTCATTGCCTCCTGGTGGCTGGTACTGATGCCTGCCCCATGTGCTAGGCCTGTCTCAGCAGGGCCACGTGCAGAGTGACAGAGTGGAAGTCAGCGTCCGCTGCAGTCACCTGCCCACTCAGTGCCTGGCTTGCTGGCCTTGTGTAATAGGTGGGCTGGGTTTAGCCTCAGTCTCACCTCAGCAAGTTATGGGGTAATGTCATGATGTTGCTCATTTGTGCCATTTTTCTTTGCGTATGAATTTCTTTCTTCTTGAGTATTAGGAATTATAAAAAATTTCAATAAATAGAAAACCATAAAGAAAAAAAAGTGCCATGTATATCTCCACTACCTGGAGATCGGAAGCCTGCGATATTCTGATATAGATATTTTCAGTCTTCTTGTGGATGCCTGTTTCTTCTGTTTCACGGGTTTCGCTTTTTCTTTTGGTTAATGGCTGGATGGTGTTTTCCCGAATGAGAGTAGTCTGTTTAGGATGACTGACTTGAATATTTGCTTGGTTGGGGTGGAGTGGCTTATGTGACTGCAGATAGACGGTTTGTATTATTTAAAAGTCAGATCATACCTACATTACTGTGGGATTGTTTTGTTTTGTTTTGAAACAGGATGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGGCTCAACCTCCTGGGCTCAAATGATCCTCCTGCCTCAGCCCCCTGAGTAGCTGGAACTGCAGGTGTGCACCACCACACTCAGCTAATTTTTGTATTTTTTGTAGAGATGGGGTCTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTACCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGTGTAAGCCACTGCCCCCAGCCACATTACTGTGTTTTTAACCCCCTTTTCCAAATAACATAGTATAGCATGCAGACTTCGATGCTAGATGAAACTCTGAAGTAGAGAATCATTTTTCACAAATAGGGGATTTGTATGCAAATATGCGTTTCTGTTTGTTGTTTTGAGCAGGTCTCCATGTAGTGGAGGTGACATATGATGACGTGCCTATCCCAAACAGTCCCTTCAAGGTGGCTGTCACTGAAGGCTGCCAGCCATCTAGGGTGCAAGCCCAAGGACCTGGATTGAAAGAGGCCTTTACCAACAAGCCCAATGTCTTCACCGTGGTTACCAGGTAGGCANN
benign
70,521
Mutation found at chromosome 3 position 58134591, gene FLNB (filamin B): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
benign
GTCTCCTTAATTATACTCTAGGGCAGACTGAGTGTATTTTAGCCAACAAAAAGCTAAAGGTGTCTCTCGGGGTCATTTCTGCAACCATGAATTGGGGATCCTGTGATTTTTTTCAGGCCTGTGATTATGGTTGCTGGCCTTTTTGTTACTCATCAGTGGAAACCAATAGCTCTTGGGGATGGATGTGGTCCTATTTCAGACTCAGCCAAGGGTGGAGTAAAGGTGAGGCCAGGCAGCTCCTTAAACCTCTCATCTCTGTCCTCAGGCTTGGTGGAGCCAGTGAACGTGGTGGACAATGGAGATGGCACACACACAGTAACCTACACCCCATCTCAGGAGGGACCTTACATGGTCTCAGTTAAATATGCTGATGAAGAGATTCCTCGCAGGTAAGCTCCATCCATCTGCCCATCCATTCCTCCATCAGTCTATCTGTCCACCCATCCATTCCTCCATCAGTCCATCCACCCATCCGTTCCTCCATCATTCCATCCATCCACTCATCCATTCCTCCATCAGTCCATCCATCCACCCATCCATTCCTCCATCAGTCCATCCATCCATCCATTCTTTCATCATTCCATCCATCCACCCATCCATTCCTCCATCAGTCCGTCTACCCATTCATAGAGGCAGCAAGTATTACATAGAACCTGCAACTTGTCACCACACACTAGCCTTGATATTTGTGGCTCCCGCTCTCTCACTCCCCCAGTTCCTTTCAGACATCTTTAGTTTAAAGGTGAGCTGAAATTAAGAAGTTGGAAATCCTAACCACGTGTGGTGGGATTCGCCTGTAATCCCAGCTACTTGGGAGACTGAGATGAGAGGATCACTTGAGCCCAAGAGTTTGAGGCCAGCCTGGGCAACATAGACCCTCCCCTGACATCTCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAATAGTAGTAGACAATCATTGATGAAATAAATAATTTATTAGTTTATTAGAGGCTTCCTTTTGGTGTTTTGGTGAACCTGCAAGTAGTTTTCTGATTGGGACAGGACAAAGGTCTTTACTTCAGGGTTTGCTTGATAAAAGCATTTCCAAAAGGTTTTACATAGAAACCTTGTTCCTTGTTGATATTAATACAAAAAAAAATGTTACATAAGCTCTTCACCTCTTGGAACAATCTCTAAGGGTTTTCTTTTCTTTTTTTAAAAAATCATGCCCCTTAAGATGAAAAACTTTCACCCATATCCCCTAACACATATTTTATATAGAGATAAGCATATTAGCTCTATGTAGAAATATGTAATTTATAAATTACATTTGTATATTGCTTTACTAATATACCATGTACCATATGAAGCATACTATAGAATAATTATAGATACAGAATATAGAATAAGATGAGATATAAATATTAAAACTGAAGTTCCAGTATTCTCTTTCCATTTGGTGACCATGATCTTAGCATAACAAAAGTGGGGTAAATGTGTTTAACCCTGTGTTTCCCAAACTAATTTGTGAACTCTTCCTCCCCAAACTACTTGTATCCCTTGGAACAGAGGTCCCCAACCCTTGGAGCGTGGACTGGTGTGGGTGCACGGCATGTTAGGAATTGGGCCGCACGGTGGTGGGTGAGCCATCATTACTGCCTGAGCCCTGCCTCCTGTCAGATCAGCAGCTGCATTAGATTCTCATAGGAGTGCGAACCCTATTGTGAACTGCACATGAGAAGGATCTAGATTGCACACTCCTTGTGAGAATCTAACTAGTGCCTGATGATCTGAGGTGGAACAGTTTTATCCTGAAAGCATTCCCCCACCAGGCCCCCTGGTCTTCTACGAAACCAGTCCCTAGTGCCAAAAAGGTTGGGGACCGCTGCCTTGGAACACACTCAGGACAAAACCAGTCTGTCATATGATGGTTACTACCTCATAGTTGTAAATTTCTGCTAGACTTAGGCACCTTGACTAACTCACTGTCTTATCTGCTGTAGAAATCCCCTTTTCCATCCCACTCTTATGTGTAAGAAAAGTCAGATGCAGCTGGGTTGACATGTATCTTTATTGACTAGGGTGTGTGTGTGTGTGTCTATCAAGTCCCTTCAAGGTCAAGGTCCTTCCCACATATGATGCCAGCAAAGTGACTGCCAGTGGCCCCGGCCTTAGTTCCTATGGTGTGCCTGCCAGTCTACCTGTGGACTTTGCAATTGATGCCCGAGATGCCGGGGAAGGCCTGCTTGCTGTTCAAATAACGGTAACTTGGAGTTATTTTCTGAGCCAAACCTTAATCCTAAGACTTAATTTCTGGGCCAGATTTAAGAACAAGGGTTTCAATAACCGATTTCTGACTCAATGCAAGTTGTTTGTTAGATTTTCCCACCAAAGAGTCAGTAAATGTGCAGAAGCAGAAGCAGCTCACCTGAGAGATTTGAGGGTGTAGCTCCAAGAACCACTTTTTGGTGAATTTTCATGTTTTTTTACTACATCTATTCCTATGTTTTTATTTTTATTTTTTTTAAAGATGGGGTTTCACCATGTTGCCCAATCTGGTCTTGAACTCTCTTGGGTTCAAGCAGTCTGCCTGCCTCAACCTCCCAAAGTGCTGGGATTGCAGACATGAGACACTGTGCCCGTCCCCTATGTTTTTATTTTTAAATGTTTTAAATTACTCTTTGGTTCATTTAAGACTAAGTTATGCTGCATATCACAGTAAACCTTAAAATAAGAGTGGCTGAAATAAATGAGATTATTCTCTCTTGTTAAGGAACCCCAGGCTAAGCCACCTGGGTGCCCTGCAGCTCACCAAGGAAGTCAGCTCCATCTCTCTGCTCCTCTACCTAGCATGTGGCTTCTGTCCTTAAGGTCTCCTCCTGGACCATAAGGCTGCCAGTGCTCTGGCCATCACATCCACATGGCAGGCCAGAAGGAGGAAGAAAGAAGGGAAAAAGGGGTCCTCCCAGCTCAGTGGGCTCTCTTAAGCAGCCCTGCCAAAAGTCCATCATAGACTTCCATTCCCTTCTGATTTGTTGGGGGTTGGTCACAATTCACATTACCTAGTGGCAAGGATGCTAGGAAGTGGATTCCCATCTTCTGGGAGCGGTGCACCTAGCTAAGAGTTATGGTCCTGTTAATAAAGAGAAAAGGGAGACTGGATGTGGTGGTGTGTGAGCAGAAGCCTCTGCCTCCTCCCCTCCCTACATTTCAGAGGATTTCGAGCTAAAACACTCTTGGTTCACCTGACAACAAAATTACTAAAAATTGGCCATGTCTGTCATGGTGTTAAAGGGATCTGTGACCCTCTACTCTCCCTACCAAAAAACAAAACAAAACTAGATTGTATTAAGCCATCAATTCTGTCTGTTTCCACTAGAGGCACTAATTGGAAAATATGTCAGGGTTTTCCATGAATGTTTTCTACATCTTGACAACATCCTAAATAGCATTTCTCTATGATCCACAGGACCAAGAAGGAAAACCCAAAAGAGCCATTGTCCATGACAATAAAGATGGCACGTATGCTGTCACCTACATCCCCGACAAGACTGGGCGCTATATGATTGGAGTCACCTACGGGGGTGACGACATCCCACTTTCTCCTTATCGCATCCGAGCCACACAGACGGGTGATGCCAGCAAGTGCCTGGCCACGGGTGAGTACAGGGCATCTCAAGGTCAGGGGCACAGGCTTTGCAATCAGAAAGCCGGGCCGTAGCCCTTCTCTGTGACTTACAAGCTACATGATCTGGGCACGTTGCTCAACCTCACTGAACTTCAGTTTGACATAGATTGAAGCTCTTTGTTTTTATTTGGAGAACATTTAGATCCAAGAAGCTCTTCTAAGGAACAGAGACTGTTTTACAGGGTTACTGCAAAGATTAGATGAGGTCAGGCATGAAAAATGCTTAGCACAGTGCTAGGTACATGATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAAT
GTCTCCTTAATTATACTCTAGGGCAGACTGAGTGTATTTTAGCCAACAAAAAGCTAAAGGTGTCTCTCGGGGTCATTTCTGCAACCATGAATTGGGGATCCTGTGATTTTTTTCAGGCCTGTGATTATGGTTGCTGGCCTTTTTGTTACTCATCAGTGGAAACCAATAGCTCTTGGGGATGGATGTGGTCCTATTTCAGACTCAGCCAAGGGTGGAGTAAAGGTGAGGCCAGGCAGCTCCTTAAACCTCTCATCTCTGTCCTCAGGCTTGGTGGAGCCAGTGAACGTGGTGGACAATGGAGATGGCACACACACAGTAACCTACACCCCATCTCAGGAGGGACCTTACATGGTCTCAGTTAAATATGCTGATGAAGAGATTCCTCGCAGGTAAGCTCCATCCATCTGCCCATCCATTCCTCCATCAGTCTATCTGTCCACCCATCCATTCCTCCATCAGTCCATCCACCCATCCGTTCCTCCATCATTCCATCCATCCACTCATCCATTCCTCCATCAGTCCATCCATCCACCCATCCATTCCTCCATCAGTCCATCCATCCATCCATTCTTTCATCATTCCATCCATCCACCCATCCATTCCTCCATCAGTCCGTCTACCCATTCATAGAGGCAGCAAGTATTACATAGAACCTGCAACTTGTCACCACACACTAGCCTTGATATTTGTGGCTCCCGCTCTCTCACTCCCCCAGTTCCTTTCAGACATCTTTAGTTTAAAGGTGAGCTGAAATTAAGAAGTTGGAAATCCTAACCACGTGTGGTGGGATTCGCCTGTAATCCCAGCTACTTGGGAGACTGAGATGAGAGGATCACTTGAGCCCAAGAGTTTGAGGCCAGCCTGGGCAACATAGACCCTCCCCTGACATCTCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCAATAGTAGTAGACAATCATTGATGAAATAAATAATTTATTAGTTTATTAGAGGCTTCCTTTTGGTGTTTTGGTGAACCTGCAAGTAGTTTTCTGATTGGGACAGGACAAAGGTCTTTACTTCAGGGTTTGCTTGATAAAAGCATTTCCAAAAGGTTTTACATAGAAACCTTGTTCCTTGTTGATATTAATACAAAAAAAAATGTTACATAAGCTCTTCACCTCTTGGAACAATCTCTAAGGGTTTTCTTTTCTTTTTTTAAAAAATCATGCCCCTTAAGATGAAAAACTTTCACCCATATCCCCTAACACATATTTTATATAGAGATAAGCATATTAGCTCTATGTAGAAATATGTAATTTATAAATTACATTTGTATATTGCTTTACTAATATACCATGTACCATATGAAGCATACTATAGAATAATTATAGATACAGAATATAGAATAAGATGAGATATAAATATTAAAACTGAAGTTCCAGTATTCTCTTTCCATTTGGTGACCATGATCTTAGCATAACAAAAGTGGGGTAAATGTGTTTAACCCTGTGTTTCCCAAACTAATTTGTGAACTCTTCCTCCCCAAACTACTTGTATCCCTTGGAACAGAGGTCCCCAACCCTTGGAGCGTGGACTGGTGTGGGTGCACGGCATGTTAGGAATTGGGCCGCACGGTGGTGGGTGAGCCATCATTACTGCCTGAGCCCTGCCTCCTGTCAGATCAGCAGCTGCATTAGATTCTCATAGGAGTGCGAACCCTATTGTGAACTGCACATGAGAAGGATCTAGATTGCACACTCCTTGTGAGAATCTAACTAGTGCCTGATGATCTGAGGTGGAACAGTTTTATCCTGAAAGCATTCCCCCACCAGGCCCCCTGGTCTTCTACGAAACCAGTCCCTAGTGCCAAAAAGGTTGGGGACCGCTGCCTTGGAACACACTCAGGACAAAACCAGTCTGTCATATGATGGTTACTACCTCATAGTTGTAAATTTCTGCTAGACTTAGGCACCTTGACTAACTCACTGTCTTATCTGCTGTAGAAATCCCCTTTTCCATCCCACTCTTATGTGTAAGAAAAGTCAGATGCAGCTGGGTTGACATGTATCTTTATTGACTAGGGTGTGTGTCTATCAAGTCCCTTCAAGGTCAAGGTCCTTCCCACATATGATGCCAGCAAAGTGACTGCCAGTGGCCCCGGCCTTAGTTCCTATGGTGTGCCTGCCAGTCTACCTGTGGACTTTGCAATTGATGCCCGAGATGCCGGGGAAGGCCTGCTTGCTGTTCAAATAACGGTAACTTGGAGTTATTTTCTGAGCCAAACCTTAATCCTAAGACTTAATTTCTGGGCCAGATTTAAGAACAAGGGTTTCAATAACCGATTTCTGACTCAATGCAAGTTGTTTGTTAGATTTTCCCACCAAAGAGTCAGTAAATGTGCAGAAGCAGAAGCAGCTCACCTGAGAGATTTGAGGGTGTAGCTCCAAGAACCACTTTTTGGTGAATTTTCATGTTTTTTTACTACATCTATTCCTATGTTTTTATTTTTATTTTTTTTAAAGATGGGGTTTCACCATGTTGCCCAATCTGGTCTTGAACTCTCTTGGGTTCAAGCAGTCTGCCTGCCTCAACCTCCCAAAGTGCTGGGATTGCAGACATGAGACACTGTGCCCGTCCCCTATGTTTTTATTTTTAAATGTTTTAAATTACTCTTTGGTTCATTTAAGACTAAGTTATGCTGCATATCACAGTAAACCTTAAAATAAGAGTGGCTGAAATAAATGAGATTATTCTCTCTTGTTAAGGAACCCCAGGCTAAGCCACCTGGGTGCCCTGCAGCTCACCAAGGAAGTCAGCTCCATCTCTCTGCTCCTCTACCTAGCATGTGGCTTCTGTCCTTAAGGTCTCCTCCTGGACCATAAGGCTGCCAGTGCTCTGGCCATCACATCCACATGGCAGGCCAGAAGGAGGAAGAAAGAAGGGAAAAAGGGGTCCTCCCAGCTCAGTGGGCTCTCTTAAGCAGCCCTGCCAAAAGTCCATCATAGACTTCCATTCCCTTCTGATTTGTTGGGGGTTGGTCACAATTCACATTACCTAGTGGCAAGGATGCTAGGAAGTGGATTCCCATCTTCTGGGAGCGGTGCACCTAGCTAAGAGTTATGGTCCTGTTAATAAAGAGAAAAGGGAGACTGGATGTGGTGGTGTGTGAGCAGAAGCCTCTGCCTCCTCCCCTCCCTACATTTCAGAGGATTTCGAGCTAAAACACTCTTGGTTCACCTGACAACAAAATTACTAAAAATTGGCCATGTCTGTCATGGTGTTAAAGGGATCTGTGACCCTCTACTCTCCCTACCAAAAAACAAAACAAAACTAGATTGTATTAAGCCATCAATTCTGTCTGTTTCCACTAGAGGCACTAATTGGAAAATATGTCAGGGTTTTCCATGAATGTTTTCTACATCTTGACAACATCCTAAATAGCATTTCTCTATGATCCACAGGACCAAGAAGGAAAACCCAAAAGAGCCATTGTCCATGACAATAAAGATGGCACGTATGCTGTCACCTACATCCCCGACAAGACTGGGCGCTATATGATTGGAGTCACCTACGGGGGTGACGACATCCCACTTTCTCCTTATCGCATCCGAGCCACACAGACGGGTGATGCCAGCAAGTGCCTGGCCACGGGTGAGTACAGGGCATCTCAAGGTCAGGGGCACAGGCTTTGCAATCAGAAAGCCGGGCCGTAGCCCTTCTCTGTGACTTACAAGCTACATGATCTGGGCACGTTGCTCAACCTCACTGAACTTCAGTTTGACATAGATTGAAGCTCTTTGTTTTTATTTGGAGAACATTTAGATCCAAGAAGCTCTTCTAAGGAACAGAGACTGTTTTACAGGGTTACTGCAAAGATTAGATGAGGTCAGGCATGAAAAATGCTTAGCACAGTGCTAGGTACATGATAACTATTATTATATGCTTTTGAAATGTTGAGAACCCAACTCTGATGGCGGCTCCCATGAAAAGCAGCACATTTCTGCCTTTTATGAGTAGATAGTTACTCAGGATTCATTCAAGAGCATTTCAGGTCAGCATTAGAGAAACACATTTAAGGATCTAGGTTTTTTTCATCATGCATATGTAAACCTCTCAGGAATNNNNNNNN
benign
70,568
Evaluate if the mutation on chromosome 3 at position 58429782 in PDHB (pyruvate dehydrogenase E1 subunit beta) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Pyruvate_dehydrogenase_E1-beta_deficiency']
TCATGAGGACTCTGCCACATCCATACTTTGTCCTTGTGGTGAGAGAGGATAAAATGTTATATAATTTGTTATTCAAAGAACATGGCAACCGTAACAGACAAAAGGAAGCATGGCATCTAGGGGAGGAGAGTGGAGAGTTTTCCATACACAAACACATTTAAACTTCCCTGTACAAAAATACCTGCTGTTGCTTTAGAAATCGTTTTCCGTTATGAATAGTCAGGTCTTGCAGTACAAATCCAGGTGCAGTGCCAGCAAGTATTTCAAATAAATTTCAACGACTTGATATTCAAGTCCAAACTAAATATTTAATGTTTTCTTTATTGCAAATATGATGTCTTTGACCTGAGGTATAGAGTTGTCCTCTAGAATCTTTGCATAAGGCATAGGGACATCAGCACCAGTGACACGAACAGCAGGAGCATCCAGGAAATTGAACGCAGGACCTAGGAGAAGGAAGGCTCAACTGAGAGAGTGCAAATGCCAGCTGGGCACTACCACCTTGGCACAGAGGTGTGGCTGACCAGGAAGAGAAAATGTAAGGAATGCTAATTATGGGGAACCGCTTTCTGGATTTGCTTTTAAAAATATCTGCCTGAAGAGAAATGCCAAACTTACAAGTTTAAAGTTGAAGTCGTTTGGCCACTCCTAGCTTTCAATCTCTTTATCCTGTACGTATTCAGGTACATGATGTTTACTATAGCTTGACTGTATTCTAGAACCAGTTTCTTTGAAATACCTTCCATGATCCTGGCACAGATTTCAGCTCCTACTCCAAACTGTGGCCAGCCTCCTTCCACAGTTACAAGATGATTTGTCTTCATGACACTGGCTTCTATGGTTTCCATGTCCATTGGTCTAATGGTACGCATATTTATCACCTAAACAGGTAATATAATCAAGTTTACAGAGCTATTGCAGCACAAATAGAGCCTTATCCCCATAATACCATTTCCTTTTTTGTTTCCTGTTAATCTTTGTATCTAGGAAAATCTAATCTGCCTATGAATACCTATTCATGAATGTACAAACTGTAAAAGGAAAAATTTTAATTAAAACAAAGATCTGTATGTCTACCACAAGCAGCTCTGTGCAGTTATAGGATTCATTTATCTTCCTTCACTTTTTTATTTCTTTTGGGATGGAGTTTTGCTCTTGTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCCACCCCCGCCTTCCCAGTTCAAGCCATTTTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCATAGACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCACGCCCAGCCAATCCTCCTTCACTTTAAATTCCCTCATCAAAATGAGTTAACAGTTAACAGCTGAGTGCCCATCATGTACCAAGCACTACACTAAGTGTAATTCTCACAACAGCCCTATGACGGGACAGTATTTATATTATCCCTGTTTTATAGCTGATGAAACAGATTTAGAGTATATAACTTGCCCAAGTATAACTAGCACATGGTGAGTTTCTAAAAGATCCAGAACCTCAGAAGGGTGAGGTGGGAGCATCACTTGGGCCCAGGAGTTCACGGTTACAGTGAGCCATGATCCAGCCACTGCACTTCAGCCTGGGCAACAGAACAAAAGCCTGTTTTTTTCTCTCTCGGGGGGTATCACTGAGAACCAGAAGAGGTTCAGAGAGCTCCCACTGTCTCTCAAAAAAAAAGATCCAGAACCTAAGTGACCTGAGTGGTAAAAAGCTAAGTATGTGAACTGCAGGCAGGTTCCCAGCTTTAAGCAGAGACAGAAATGAGTGACAAAGCAAGGTTTTACATCTAATTAACCTGTTACAGAACTCTTCTGGGTCTTAAATCTAAAAGGAGCCCTTCTAATTCTTTAAGAACAAGTAAATGTCCACTCACCTCACATTCAACTCCTTCTTTAGATAGCACTGCTGCAGCTTCTAAGCAGTGGCCCACAGGTCTTGAATGGGAAACCACAGTTATATGTGTTCCTGAAAACAGAGTGGTCACAGATCAGAGATCAGGTTGAAACTGAAGATGCTACACCACTGTGCCGCCAGCTGTGGCTCTTGTTCATTCATAAAGTCTTCAATTCAACTTCATTCCAGTGAGCTGAGGAATGTGGCAGCCTTCCTAGAAATGAAACACAAACCTACCAGACTGAGATCTAGAAAAGCACAACTGAATGAGAAATTGGGGCATCTTGAGCTCATCCTATAATTTTTCAGTCAAAGTAAATGACAGTAACTTCTAGATTAAATTTTACCAAAATTGAGGGGCTGGATTAAAAATACTGTTTATATATCTTAGTTTTCTTACCTTGCCTTTCTATTTTGGCTTTTCCAATAGGAATCAGAAAATCTTTTGACTGAGCTTCCGGAGGAAATTCAAAAGGAACCCCATACATCAATTCATTCTCTAGCACCACCACTGAAAAACATAAATATTTAAACAAAAGTAATTAATCACATCCAGAATGACTAAAACTGCATAGAAAGCAATATCATTCATCTTGTGAGAAGTTTCATTGTGCTGATTAGCCTTATCTCTACCATGACCAGCAGCCTTGAGAGCAGTTTAGGTACTTAAATTTGTAGTGGTCAATATAATTTTATCTATCAAACCAGTATTGTGGGTGTGCAGTAAATGTCCCCTTTACCTAGCTGGCCCCCTTATATTCGGAAATAGGAAAAGCAAGCACATTCTTTACTATCTTTACTATATAAAGTATTAACATTCTATACGATATATCTAAGCCTAACTAAAAGACTTTAATGGTTTCCTCTGTGCAAATATATCATTTTAGTTTTTCAATCTTCAAAAAAAACCAAAGGGTCCCTGTGCTGACCTGGATTGTTATCCCGAATGGCTGATTTAATAAGTCCTTTAGCATCCTCTGAATTCCAGGGACTGACCACCTTTAAGCCTGGGCAGTGCCCATACCAGGCAGCAAAGCACTGTGAGTGCTGGGCAGCTACACCTGCTGAGGCACCATTGGGCCCTCTGAAGACTATAGGCACAGGCTGAAGGCCACCAGACATGTAGTAGGTCTTGGCAGCTGAGTTTATAACCTGGTCAATGGCTTGCATGGAGAAATTGAAGGTCATAAATTCACAAATGGGCCGCAACCCAGCCTGTAAAATCAAAAACGTGGATGTTAAAAAGACTAGAAACAGCAACAAACAGTAGCAAACAAATCACTCCAAGTCTTCCAACATTCAAATAATGTTTTTATTTTTTATTTTTATTTTTTATGGACAGGGTCTCACTGTCACCCATGCTGGAGTGCAGTGGCACACATCATAGCTCACTGCAGCCTCTAACTCCTAGGCTCAAGTAATCCTTCCTCAGCATCCCGAGTAGCTGGGACTGCAGGCAAGCACCACCACATCTACCTACTTGGTATTTTTTTTTTTTCCCAAATGATGTTTTTAAAAGGTGATGTTAAATCTCTTTGGGGATGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGTCGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAACACAAAAATTGGCTAGGCACAGTGGCGCGACCTGTAACCCCAGCCACTATGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGCTGAGATGGTGCCAGTGCACTCCAGGCTGGACAACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAGAAAACAAGAAATGTCTTTGGATAAGTTTCATAAAGAGTATTACATACCATAGCTGCACCTACAGCAATTCCAGCAAAGCCCATCTATAAAGTAAAATATAAACATAAGTGAAAATCCATAAAAATGAGGATAATGGACACTAACAGACATGCCCTCCAGGGTCTGCTTCCCACTGGAAGGCTTACCTCTGATATGGGAGTGTCAATAATCCTCTTGTCTCCATATTTCTTCCACAGCCCTCGACTAACCTACAATTAAGAGTTGATCCCTTAAGTGTATCTGGG
TCATGAGGACTCTGCCACATCCATACTTTGTCCTTGTGGTGAGAGAGGATAAAATGTTATATAATTTGTTATTCAAAGAACATGGCAACCGTAACAGACAAAAGGAAGCATGGCATCTAGGGGAGGAGAGTGGAGAGTTTTCCATACACAAACACATTTAAACTTCCCTGTACAAAAATACCTGCTGTTGCTTTAGAAATCGTTTTCCGTTATGAATAGTCAGGTCTTGCAGTACAAATCCAGGTGCAGTGCCAGCAAGTATTTCAAATAAATTTCAACGACTTGATATTCAAGTCCAAACTAAATATTTAATGTTTTCTTTATTGCAAATATGATGTCTTTGACCTGAGGTATAGAGTTGTCCTCTAGAATCTTTGCATAAGGCATAGGGACATCAGCACCAGTGACACGAACAGCAGGAGCATCCAGGAAATTGAACGCAGGACCTAGGAGAAGGAAGGCTCAACTGAGAGAGTGCAAATGCCAGCTGGGCACTACCACCTTGGCACAGAGGTGTGGCTGACCAGGAAGAGAAAATGTAAGGAATGCTAATTATGGGGAACCGCTTTCTGGATTTGCTTTTAAAAATATCTGCCTGAAGAGAAATGCCAAACTTACAAGTTTAAAGTTGAAGTCGTTTGGCCACTCCTAGCTTTCAATCTCTTTATCCTGTACGTATTCAGGTACATGATGTTTACTATAGCTTGACTGTATTCTAGAACCAGTTTCTTTGAAATACCTTCCATGATCCTGGCACAGATTTCAGCTCCTACTCCAAACTGTGGCCAGCCTCCTTCCACAGTTACAAGATGATTTGTCTTCATGACACTGGCTTCTATGGTTTCCATGTCCATTGGTCTAATGGTACGCATATTTATCACCTAAACAGGTAATATAATCAAGTTTACAGAGCTATTGCAGCACAAATAGAGCCTTATCCCCATAATACCATTTCCTTTTTTGTTTCCTGTTAATCTTTGTATCTAGGAAAATCTAATCTGCCTATGAATACCTATTCATGAATGTACAAACTGTAAAAGGAAAAATTTTAATTAAAACAAAGATCTGTATGTCTACCACAAGCAGCTCTGTGCAGTTATAGGATTCATTTATCTTCCTTCACTTTTTTATTTCTTTTGGGATGGAGTTTTGCTCTTGTTGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCCACCCCCGCCTTCCCAGTTCAAGCCATTTTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCATAGACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAACATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCAGGTGATCCACCACGCCCAGCCAATCCTCCTTCACTTTAAATTCCCTCATCAAAATGAGTTAACAGTTAACAGCTGAGTGCCCATCATGTACCAAGCACTACACTAAGTGTAATTCTCACAACAGCCCTATGACGGGACAGTATTTATATTATCCCTGTTTTATAGCTGATGAAACAGATTTAGAGTATATAACTTGCCCAAGTATAACTAGCACATGGTGAGTTTCTAAAAGATCCAGAACCTCAGAAGGGTGAGGTGGGAGCATCACTTGGGCCCAGGAGTTCACGGTTACAGTGAGCCATGATCCAGCCACTGCACTTCAGCCTGGGCAACAGAACAAAAGCCTGTTTTTTTCTCTCTCGGGGGGTATCACTGAGAACCAGAAGAGGTTCAGAGAGCTCCCACTGTCTCTCAAAAAAAAAGATCCAGAACCTAAGTGACCTGAGTGGTAAAAAGCTAAGTATGTGAACTGCAGGCAGGTTCCCAGCTTTAAGCAGAGACAGAAATGAGTGACAAAGCAAGGTTTTACATCTAATTAACCTGTTACAGAACTCTTCTGGGTCTTAAATCTAAAAGGAGCCCTTCTAATTCTTTAAGAACAAGTAAATGTCCACTCACCTCACATTCAACTCCTTCTTTAGATAGCACTGCTGCAGCTTCTAAGCAGTGGCCCACAGGTCTTGAATGGGAAACCAGTTATATGTGTTCCTGAAAACAGAGTGGTCACAGATCAGAGATCAGGTTGAAACTGAAGATGCTACACCACTGTGCCGCCAGCTGTGGCTCTTGTTCATTCATAAAGTCTTCAATTCAACTTCATTCCAGTGAGCTGAGGAATGTGGCAGCCTTCCTAGAAATGAAACACAAACCTACCAGACTGAGATCTAGAAAAGCACAACTGAATGAGAAATTGGGGCATCTTGAGCTCATCCTATAATTTTTCAGTCAAAGTAAATGACAGTAACTTCTAGATTAAATTTTACCAAAATTGAGGGGCTGGATTAAAAATACTGTTTATATATCTTAGTTTTCTTACCTTGCCTTTCTATTTTGGCTTTTCCAATAGGAATCAGAAAATCTTTTGACTGAGCTTCCGGAGGAAATTCAAAAGGAACCCCATACATCAATTCATTCTCTAGCACCACCACTGAAAAACATAAATATTTAAACAAAAGTAATTAATCACATCCAGAATGACTAAAACTGCATAGAAAGCAATATCATTCATCTTGTGAGAAGTTTCATTGTGCTGATTAGCCTTATCTCTACCATGACCAGCAGCCTTGAGAGCAGTTTAGGTACTTAAATTTGTAGTGGTCAATATAATTTTATCTATCAAACCAGTATTGTGGGTGTGCAGTAAATGTCCCCTTTACCTAGCTGGCCCCCTTATATTCGGAAATAGGAAAAGCAAGCACATTCTTTACTATCTTTACTATATAAAGTATTAACATTCTATACGATATATCTAAGCCTAACTAAAAGACTTTAATGGTTTCCTCTGTGCAAATATATCATTTTAGTTTTTCAATCTTCAAAAAAAACCAAAGGGTCCCTGTGCTGACCTGGATTGTTATCCCGAATGGCTGATTTAATAAGTCCTTTAGCATCCTCTGAATTCCAGGGACTGACCACCTTTAAGCCTGGGCAGTGCCCATACCAGGCAGCAAAGCACTGTGAGTGCTGGGCAGCTACACCTGCTGAGGCACCATTGGGCCCTCTGAAGACTATAGGCACAGGCTGAAGGCCACCAGACATGTAGTAGGTCTTGGCAGCTGAGTTTATAACCTGGTCAATGGCTTGCATGGAGAAATTGAAGGTCATAAATTCACAAATGGGCCGCAACCCAGCCTGTAAAATCAAAAACGTGGATGTTAAAAAGACTAGAAACAGCAACAAACAGTAGCAAACAAATCACTCCAAGTCTTCCAACATTCAAATAATGTTTTTATTTTTTATTTTTATTTTTTATGGACAGGGTCTCACTGTCACCCATGCTGGAGTGCAGTGGCACACATCATAGCTCACTGCAGCCTCTAACTCCTAGGCTCAAGTAATCCTTCCTCAGCATCCCGAGTAGCTGGGACTGCAGGCAAGCACCACCACATCTACCTACTTGGTATTTTTTTTTTTTCCCAAATGATGTTTTTAAAAGGTGATGTTAAATCTCTTTGGGGATGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGTCGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAACACAAAAATTGGCTAGGCACAGTGGCGCGACCTGTAACCCCAGCCACTATGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGCTGAGATGGTGCCAGTGCACTCCAGGCTGGACAACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAGAAAACAAGAAATGTCTTTGGATAAGTTTCATAAAGAGTATTACATACCATAGCTGCACCTACAGCAATTCCAGCAAAGCCCATCTATAAAGTAAAATATAAACATAAGTGAAAATCCATAAAAATGAGGATAATGGACACTAACAGACATGCCCTCCAGGGTCTGCTTCCCACTGGAAGGCTTACCTCTGATATGGGAGTGTCAATAATCCTCTTGTCTCCATATTTCTTCCACAGCCCTCGACTAACCTACAATTAAGAGTTGATCCCTTAAGTGTATCTGGGNN
pathogenic
70,700
A mutation at chromosome position 58431758 on chromosome 3 in gene PDHB (pyruvate dehydrogenase E1 subunit beta): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Pyruvate_dehydrogenase_E1-beta_deficiency']
CACATTCAACTCCTTCTTTAGATAGCACTGCTGCAGCTTCTAAGCAGTGGCCCACAGGTCTTGAATGGGAAACCACAGTTATATGTGTTCCTGAAAACAGAGTGGTCACAGATCAGAGATCAGGTTGAAACTGAAGATGCTACACCACTGTGCCGCCAGCTGTGGCTCTTGTTCATTCATAAAGTCTTCAATTCAACTTCATTCCAGTGAGCTGAGGAATGTGGCAGCCTTCCTAGAAATGAAACACAAACCTACCAGACTGAGATCTAGAAAAGCACAACTGAATGAGAAATTGGGGCATCTTGAGCTCATCCTATAATTTTTCAGTCAAAGTAAATGACAGTAACTTCTAGATTAAATTTTACCAAAATTGAGGGGCTGGATTAAAAATACTGTTTATATATCTTAGTTTTCTTACCTTGCCTTTCTATTTTGGCTTTTCCAATAGGAATCAGAAAATCTTTTGACTGAGCTTCCGGAGGAAATTCAAAAGGAACCCCATACATCAATTCATTCTCTAGCACCACCACTGAAAAACATAAATATTTAAACAAAAGTAATTAATCACATCCAGAATGACTAAAACTGCATAGAAAGCAATATCATTCATCTTGTGAGAAGTTTCATTGTGCTGATTAGCCTTATCTCTACCATGACCAGCAGCCTTGAGAGCAGTTTAGGTACTTAAATTTGTAGTGGTCAATATAATTTTATCTATCAAACCAGTATTGTGGGTGTGCAGTAAATGTCCCCTTTACCTAGCTGGCCCCCTTATATTCGGAAATAGGAAAAGCAAGCACATTCTTTACTATCTTTACTATATAAAGTATTAACATTCTATACGATATATCTAAGCCTAACTAAAAGACTTTAATGGTTTCCTCTGTGCAAATATATCATTTTAGTTTTTCAATCTTCAAAAAAAACCAAAGGGTCCCTGTGCTGACCTGGATTGTTATCCCGAATGGCTGATTTAATAAGTCCTTTAGCATCCTCTGAATTCCAGGGACTGACCACCTTTAAGCCTGGGCAGTGCCCATACCAGGCAGCAAAGCACTGTGAGTGCTGGGCAGCTACACCTGCTGAGGCACCATTGGGCCCTCTGAAGACTATAGGCACAGGCTGAAGGCCACCAGACATGTAGTAGGTCTTGGCAGCTGAGTTTATAACCTGGTCAATGGCTTGCATGGAGAAATTGAAGGTCATAAATTCACAAATGGGCCGCAACCCAGCCTGTAAAATCAAAAACGTGGATGTTAAAAAGACTAGAAACAGCAACAAACAGTAGCAAACAAATCACTCCAAGTCTTCCAACATTCAAATAATGTTTTTATTTTTTATTTTTATTTTTTATGGACAGGGTCTCACTGTCACCCATGCTGGAGTGCAGTGGCACACATCATAGCTCACTGCAGCCTCTAACTCCTAGGCTCAAGTAATCCTTCCTCAGCATCCCGAGTAGCTGGGACTGCAGGCAAGCACCACCACATCTACCTACTTGGTATTTTTTTTTTTTCCCAAATGATGTTTTTAAAAGGTGATGTTAAATCTCTTTGGGGATGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGTCGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAACACAAAAATTGGCTAGGCACAGTGGCGCGACCTGTAACCCCAGCCACTATGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGCTGAGATGGTGCCAGTGCACTCCAGGCTGGACAACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAGAAAACAAGAAATGTCTTTGGATAAGTTTCATAAAGAGTATTACATACCATAGCTGCACCTACAGCAATTCCAGCAAAGCCCATCTATAAAGTAAAATATAAACATAAGTGAAAATCCATAAAAATGAGGATAATGGACACTAACAGACATGCCCTCCAGGGTCTGCTTCCCACTGGAAGGCTTACCTCTGATATGGGAGTGTCAATAATCCTCTTGTCTCCATATTTCTTCCACAGCCCTCGACTAACCTACAATTAAGAGTTGATCCCTTAAGTGTATCTGGGGGTAACAGTGACCTCAATTTTGTATAACTTTCATATATTTTAGTTACCTTGTATGCCCCATCATACTGGGCAACTTCTTCTCCAAGCAGAAATACCTTCTCATCTCTTTCCAGCTCCTCATCCATACCCTGATTTATAGCATCACGAACTGTCACCTGTCACAGGTATGCAAAAACAGTCAATACAGAATTGTTTGGGATTCAACTAAGATTTTCTTCCTTTATATTTACCTAGGCTGCCCACAGCATACAATATAAAAACACTAGAACAAGCTTCTCTCTAAAAACTCAAAGAATTCTAAAAGTAACATTTCTATTACACATAGTTGGTCTTTGCATGTGTTAATGTACTGAGTGCTCACTAGGTGCCAAGTACTGCCAAATACTTTGCATCCAGAATGTAGGAGTTGCTCTTTTAATATAATGAATGGTAAAATCTAGTTAAAAAAAGGAAGGAGAGGAGAATTAACATACAATCCATCAATTCCACTTCTATGTATATGCCCCAAATAATTGAAAGCAGGGATTCAAGCATATACTTGCACATCAATGTTCACAGCAGCATTACTCACAATAGACAAAACAAGGCCAGGCACGGTGGCTCACACCTGTAATTCCAGCACTCTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCACCCTGGCCAACATGGTGAAACCCATTCTCTACTAAAAATACAAAAATTGGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCTGAGATAGTGCCACTGCACTCTAGCCTGGGCAGCAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAAAATGTCGGGCTGAGCGAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAATATGGTGAGACCCTGTCTGTACTAAAAATACAAAAATTAGCCCGGTGTGGTGGCACCGGCATCTAATCACAGCTACTCAGGAGTGTGAGGCGCGAGAATCCCTTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGGGAGACTATCTCAAAAAAATATACATATATATATTATTCAGCCTTAGGAAAGAATCAAACTCTGACGCATGCTACAACATGGATGAACCTTGAGGACATTACGCTGAGATAAGCCAGACACAAAAGGACAAATGATGCCACTTATAAGAAGTTCTAGAATAGGCAACCTCATAAAGACAGAAAAGTACAACAGGGGTTACCAGGGGTTTGGGGAAGGGAAATGAGGAGTTACCGAGTAATGGACAGTTTCTGCTTGGGATGATTAAAAAGTTCTGGAAATGGATGGTGGTTAATGGTTGTACAACATGGTGAATGTACTTAATGCCACTGAATTATACACTTCTAAAAAGTACATTTTAAGTTAGGTCTATTTTGCTGCAATTTAAAGAAAAAAACATGGAGTGAGGGAGGAAACGCCTAGTCTTAGTTTTCCCCCATTGCCCAGCCAGCTGTGAGGTGGTGACTCGCCGGTGTGCTAATTGCCAGGCGGCGACAGAGGCAGCAGGAGCTCCACGGAGGATGCTGGCTCCGCAAACCCAAGGCCCACGGCGCCGGAAGGCCACAGCGCAGGCGCGACTCCGGCCTCCTTCCCGAGAGAAGGGGGGACCCTCCCCGCCCTCGTCCGACGAGCACCCGCGCCTGTTACCTGCAGCGCAGCCGGCGCGGTCCAGTGAAAGCGCCTCTTCAGCAGCCCGGAGACCTGGCAGGGAGAGAGGAAGATGACGGCGGGACGCAGGGTGGGCAGGGGTCGCGTGGGAATACAGGCCGCGCGCTGCTGCCTACCTCCCGAAGGGGTCTCCGCACCAAGCCAGACACCGCCG
CACATTCAACTCCTTCTTTAGATAGCACTGCTGCAGCTTCTAAGCAGTGGCCCACAGGTCTTGAATGGGAAACCACAGTTATATGTGTTCCTGAAAACAGAGTGGTCACAGATCAGAGATCAGGTTGAAACTGAAGATGCTACACCACTGTGCCGCCAGCTGTGGCTCTTGTTCATTCATAAAGTCTTCAATTCAACTTCATTCCAGTGAGCTGAGGAATGTGGCAGCCTTCCTAGAAATGAAACACAAACCTACCAGACTGAGATCTAGAAAAGCACAACTGAATGAGAAATTGGGGCATCTTGAGCTCATCCTATAATTTTTCAGTCAAAGTAAATGACAGTAACTTCTAGATTAAATTTTACCAAAATTGAGGGGCTGGATTAAAAATACTGTTTATATATCTTAGTTTTCTTACCTTGCCTTTCTATTTTGGCTTTTCCAATAGGAATCAGAAAATCTTTTGACTGAGCTTCCGGAGGAAATTCAAAAGGAACCCCATACATCAATTCATTCTCTAGCACCACCACTGAAAAACATAAATATTTAAACAAAAGTAATTAATCACATCCAGAATGACTAAAACTGCATAGAAAGCAATATCATTCATCTTGTGAGAAGTTTCATTGTGCTGATTAGCCTTATCTCTACCATGACCAGCAGCCTTGAGAGCAGTTTAGGTACTTAAATTTGTAGTGGTCAATATAATTTTATCTATCAAACCAGTATTGTGGGTGTGCAGTAAATGTCCCCTTTACCTAGCTGGCCCCCTTATATTCGGAAATAGGAAAAGCAAGCACATTCTTTACTATCTTTACTATATAAAGTATTAACATTCTATACGATATATCTAAGCCTAACTAAAAGACTTTAATGGTTTCCTCTGTGCAAATATATCATTTTAGTTTTTCAATCTTCAAAAAAAACCAAAGGGTCCCTGTGCTGACCTGGATTGTTATCCCGAATGGCTGATTTAATAAGTCCTTTAGCATCCTCTGAATTCCAGGGACTGACCACCTTTAAGCCTGGGCAGTGCCCATACCAGGCAGCAAAGCACTGTGAGTGCTGGGCAGCTACACCTGCTGAGGCACCATTGGGCCCTCTGAAGACTATAGGCACAGGCTGAAGGCCACCAGACATGTAGTAGGTCTTGGCAGCTGAGTTTATAACCTGGTCAATGGCTTGCATGGAGAAATTGAAGGTCATAAATTCACAAATGGGCCGCAACCCAGCCTGTAAAATCAAAAACGTGGATGTTAAAAAGACTAGAAACAGCAACAAACAGTAGCAAACAAATCACTCCAAGTCTTCCAACATTCAAATAATGTTTTTATTTTTTATTTTTATTTTTTATGGACAGGGTCTCACTGTCACCCATGCTGGAGTGCAGTGGCACACATCATAGCTCACTGCAGCCTCTAACTCCTAGGCTCAAGTAATCCTTCCTCAGCATCCCGAGTAGCTGGGACTGCAGGCAAGCACCACCACATCTACCTACTTGGTATTTTTTTTTTTTCCCAAATGATGTTTTTAAAAGGTGATGTTAAATCTCTTTGGGGATGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGTCGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAACACAAAAATTGGCTAGGCACAGTGGCGCGACCTGTAACCCCAGCCACTATGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGCTGAGATGGTGCCAGTGCACTCCAGGCTGGACAACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAGAAAACAAGAAATGTCTTTGGATAAGTTTCATAAAGAGTATTACATACCATAGCTGCACCTACAGCAATTCCAGCAAAGCCCATCTATAAAGTAAAATATAAACATAAGTGAAAATCCATAAAAATGAGGATAATGGACACTAACAGACATGCCCTCCAGGGTCTGCTTCCCACTGGAAGGCTTACCTCTGATATGGGAGTGTCAATAATCCTCGTCTCCATATTTCTTCCACAGCCCTCGACTAACCTACAATTAAGAGTTGATCCCTTAAGTGTATCTGGGGGTAACAGTGACCTCAATTTTGTATAACTTTCATATATTTTAGTTACCTTGTATGCCCCATCATACTGGGCAACTTCTTCTCCAAGCAGAAATACCTTCTCATCTCTTTCCAGCTCCTCATCCATACCCTGATTTATAGCATCACGAACTGTCACCTGTCACAGGTATGCAAAAACAGTCAATACAGAATTGTTTGGGATTCAACTAAGATTTTCTTCCTTTATATTTACCTAGGCTGCCCACAGCATACAATATAAAAACACTAGAACAAGCTTCTCTCTAAAAACTCAAAGAATTCTAAAAGTAACATTTCTATTACACATAGTTGGTCTTTGCATGTGTTAATGTACTGAGTGCTCACTAGGTGCCAAGTACTGCCAAATACTTTGCATCCAGAATGTAGGAGTTGCTCTTTTAATATAATGAATGGTAAAATCTAGTTAAAAAAAGGAAGGAGAGGAGAATTAACATACAATCCATCAATTCCACTTCTATGTATATGCCCCAAATAATTGAAAGCAGGGATTCAAGCATATACTTGCACATCAATGTTCACAGCAGCATTACTCACAATAGACAAAACAAGGCCAGGCACGGTGGCTCACACCTGTAATTCCAGCACTCTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCACCCTGGCCAACATGGTGAAACCCATTCTCTACTAAAAATACAAAAATTGGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCTGAGATAGTGCCACTGCACTCTAGCCTGGGCAGCAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAAAATGTCGGGCTGAGCGAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAATATGGTGAGACCCTGTCTGTACTAAAAATACAAAAATTAGCCCGGTGTGGTGGCACCGGCATCTAATCACAGCTACTCAGGAGTGTGAGGCGCGAGAATCCCTTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGGGAGACTATCTCAAAAAAATATACATATATATATTATTCAGCCTTAGGAAAGAATCAAACTCTGACGCATGCTACAACATGGATGAACCTTGAGGACATTACGCTGAGATAAGCCAGACACAAAAGGACAAATGATGCCACTTATAAGAAGTTCTAGAATAGGCAACCTCATAAAGACAGAAAAGTACAACAGGGGTTACCAGGGGTTTGGGGAAGGGAAATGAGGAGTTACCGAGTAATGGACAGTTTCTGCTTGGGATGATTAAAAAGTTCTGGAAATGGATGGTGGTTAATGGTTGTACAACATGGTGAATGTACTTAATGCCACTGAATTATACACTTCTAAAAAGTACATTTTAAGTTAGGTCTATTTTGCTGCAATTTAAAGAAAAAAACATGGAGTGAGGGAGGAAACGCCTAGTCTTAGTTTTCCCCCATTGCCCAGCCAGCTGTGAGGTGGTGACTCGCCGGTGTGCTAATTGCCAGGCGGCGACAGAGGCAGCAGGAGCTCCACGGAGGATGCTGGCTCCGCAAACCCAAGGCCCACGGCGCCGGAAGGCCACAGCGCAGGCGCGACTCCGGCCTCCTTCCCGAGAGAAGGGGGGACCCTCCCCGCCCTCGTCCGACGAGCACCCGCGCCTGTTACCTGCAGCGCAGCCGGCGCGGTCCAGTGAAAGCGCCTCTTCAGCAGCCCGGAGACCTGGCAGGGAGAGAGGAAGATGACGGCGGGACGCAGGGTGGGCAGGGGTCGCGTGGGAATACAGGCCGCGCGCTGCTGCCTACCTCCCGAAGGGGTCTCCGCACCAAGCCAGACACCGCCGNN
pathogenic
70,716
Determine if the mutation at chromosome 3, position 58431957 in gene PDHB (pyruvate dehydrogenase E1 subunit beta) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Pyruvate_dehydrogenase_E1-beta_deficiency']
CATTCCAGTGAGCTGAGGAATGTGGCAGCCTTCCTAGAAATGAAACACAAACCTACCAGACTGAGATCTAGAAAAGCACAACTGAATGAGAAATTGGGGCATCTTGAGCTCATCCTATAATTTTTCAGTCAAAGTAAATGACAGTAACTTCTAGATTAAATTTTACCAAAATTGAGGGGCTGGATTAAAAATACTGTTTATATATCTTAGTTTTCTTACCTTGCCTTTCTATTTTGGCTTTTCCAATAGGAATCAGAAAATCTTTTGACTGAGCTTCCGGAGGAAATTCAAAAGGAACCCCATACATCAATTCATTCTCTAGCACCACCACTGAAAAACATAAATATTTAAACAAAAGTAATTAATCACATCCAGAATGACTAAAACTGCATAGAAAGCAATATCATTCATCTTGTGAGAAGTTTCATTGTGCTGATTAGCCTTATCTCTACCATGACCAGCAGCCTTGAGAGCAGTTTAGGTACTTAAATTTGTAGTGGTCAATATAATTTTATCTATCAAACCAGTATTGTGGGTGTGCAGTAAATGTCCCCTTTACCTAGCTGGCCCCCTTATATTCGGAAATAGGAAAAGCAAGCACATTCTTTACTATCTTTACTATATAAAGTATTAACATTCTATACGATATATCTAAGCCTAACTAAAAGACTTTAATGGTTTCCTCTGTGCAAATATATCATTTTAGTTTTTCAATCTTCAAAAAAAACCAAAGGGTCCCTGTGCTGACCTGGATTGTTATCCCGAATGGCTGATTTAATAAGTCCTTTAGCATCCTCTGAATTCCAGGGACTGACCACCTTTAAGCCTGGGCAGTGCCCATACCAGGCAGCAAAGCACTGTGAGTGCTGGGCAGCTACACCTGCTGAGGCACCATTGGGCCCTCTGAAGACTATAGGCACAGGCTGAAGGCCACCAGACATGTAGTAGGTCTTGGCAGCTGAGTTTATAACCTGGTCAATGGCTTGCATGGAGAAATTGAAGGTCATAAATTCACAAATGGGCCGCAACCCAGCCTGTAAAATCAAAAACGTGGATGTTAAAAAGACTAGAAACAGCAACAAACAGTAGCAAACAAATCACTCCAAGTCTTCCAACATTCAAATAATGTTTTTATTTTTTATTTTTATTTTTTATGGACAGGGTCTCACTGTCACCCATGCTGGAGTGCAGTGGCACACATCATAGCTCACTGCAGCCTCTAACTCCTAGGCTCAAGTAATCCTTCCTCAGCATCCCGAGTAGCTGGGACTGCAGGCAAGCACCACCACATCTACCTACTTGGTATTTTTTTTTTTTCCCAAATGATGTTTTTAAAAGGTGATGTTAAATCTCTTTGGGGATGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGTCGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAACACAAAAATTGGCTAGGCACAGTGGCGCGACCTGTAACCCCAGCCACTATGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGCTGAGATGGTGCCAGTGCACTCCAGGCTGGACAACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAGAAAACAAGAAATGTCTTTGGATAAGTTTCATAAAGAGTATTACATACCATAGCTGCACCTACAGCAATTCCAGCAAAGCCCATCTATAAAGTAAAATATAAACATAAGTGAAAATCCATAAAAATGAGGATAATGGACACTAACAGACATGCCCTCCAGGGTCTGCTTCCCACTGGAAGGCTTACCTCTGATATGGGAGTGTCAATAATCCTCTTGTCTCCATATTTCTTCCACAGCCCTCGACTAACCTACAATTAAGAGTTGATCCCTTAAGTGTATCTGGGGGTAACAGTGACCTCAATTTTGTATAACTTTCATATATTTTAGTTACCTTGTATGCCCCATCATACTGGGCAACTTCTTCTCCAAGCAGAAATACCTTCTCATCTCTTTCCAGCTCCTCATCCATACCCTGATTTATAGCATCACGAACTGTCACCTGTCACAGGTATGCAAAAACAGTCAATACAGAATTGTTTGGGATTCAACTAAGATTTTCTTCCTTTATATTTACCTAGGCTGCCCACAGCATACAATATAAAAACACTAGAACAAGCTTCTCTCTAAAAACTCAAAGAATTCTAAAAGTAACATTTCTATTACACATAGTTGGTCTTTGCATGTGTTAATGTACTGAGTGCTCACTAGGTGCCAAGTACTGCCAAATACTTTGCATCCAGAATGTAGGAGTTGCTCTTTTAATATAATGAATGGTAAAATCTAGTTAAAAAAAGGAAGGAGAGGAGAATTAACATACAATCCATCAATTCCACTTCTATGTATATGCCCCAAATAATTGAAAGCAGGGATTCAAGCATATACTTGCACATCAATGTTCACAGCAGCATTACTCACAATAGACAAAACAAGGCCAGGCACGGTGGCTCACACCTGTAATTCCAGCACTCTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCACCCTGGCCAACATGGTGAAACCCATTCTCTACTAAAAATACAAAAATTGGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCTGAGATAGTGCCACTGCACTCTAGCCTGGGCAGCAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAAAATGTCGGGCTGAGCGAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAATATGGTGAGACCCTGTCTGTACTAAAAATACAAAAATTAGCCCGGTGTGGTGGCACCGGCATCTAATCACAGCTACTCAGGAGTGTGAGGCGCGAGAATCCCTTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGGGAGACTATCTCAAAAAAATATACATATATATATTATTCAGCCTTAGGAAAGAATCAAACTCTGACGCATGCTACAACATGGATGAACCTTGAGGACATTACGCTGAGATAAGCCAGACACAAAAGGACAAATGATGCCACTTATAAGAAGTTCTAGAATAGGCAACCTCATAAAGACAGAAAAGTACAACAGGGGTTACCAGGGGTTTGGGGAAGGGAAATGAGGAGTTACCGAGTAATGGACAGTTTCTGCTTGGGATGATTAAAAAGTTCTGGAAATGGATGGTGGTTAATGGTTGTACAACATGGTGAATGTACTTAATGCCACTGAATTATACACTTCTAAAAAGTACATTTTAAGTTAGGTCTATTTTGCTGCAATTTAAAGAAAAAAACATGGAGTGAGGGAGGAAACGCCTAGTCTTAGTTTTCCCCCATTGCCCAGCCAGCTGTGAGGTGGTGACTCGCCGGTGTGCTAATTGCCAGGCGGCGACAGAGGCAGCAGGAGCTCCACGGAGGATGCTGGCTCCGCAAACCCAAGGCCCACGGCGCCGGAAGGCCACAGCGCAGGCGCGACTCCGGCCTCCTTCCCGAGAGAAGGGGGGACCCTCCCCGCCCTCGTCCGACGAGCACCCGCGCCTGTTACCTGCAGCGCAGCCGGCGCGGTCCAGTGAAAGCGCCTCTTCAGCAGCCCGGAGACCTGGCAGGGAGAGAGGAAGATGACGGCGGGACGCAGGGTGGGCAGGGGTCGCGTGGGAATACAGGCCGCGCGCTGCTGCCTACCTCCCGAAGGGGTCTCCGCACCAAGCCAGACACCGCCGCCATCTTGGTCGTGTCCTCTATCCGCTGCCAAACGACAACAGAGGGGCCGGCAGACGTGAGCAGGCCCCGCCTCCACCGGCGCGGGCCAATGGCAAGGCGCGCCGGCTGCGTGACCCGCCCACCCGCCCACCGGGTGAGGGGCCGCGGGGCCGGGCTGAGGTGGCGTGTGGGTGGCCGTGCCCCTCTGCCTGGAGCCGC
CATTCCAGTGAGCTGAGGAATGTGGCAGCCTTCCTAGAAATGAAACACAAACCTACCAGACTGAGATCTAGAAAAGCACAACTGAATGAGAAATTGGGGCATCTTGAGCTCATCCTATAATTTTTCAGTCAAAGTAAATGACAGTAACTTCTAGATTAAATTTTACCAAAATTGAGGGGCTGGATTAAAAATACTGTTTATATATCTTAGTTTTCTTACCTTGCCTTTCTATTTTGGCTTTTCCAATAGGAATCAGAAAATCTTTTGACTGAGCTTCCGGAGGAAATTCAAAAGGAACCCCATACATCAATTCATTCTCTAGCACCACCACTGAAAAACATAAATATTTAAACAAAAGTAATTAATCACATCCAGAATGACTAAAACTGCATAGAAAGCAATATCATTCATCTTGTGAGAAGTTTCATTGTGCTGATTAGCCTTATCTCTACCATGACCAGCAGCCTTGAGAGCAGTTTAGGTACTTAAATTTGTAGTGGTCAATATAATTTTATCTATCAAACCAGTATTGTGGGTGTGCAGTAAATGTCCCCTTTACCTAGCTGGCCCCCTTATATTCGGAAATAGGAAAAGCAAGCACATTCTTTACTATCTTTACTATATAAAGTATTAACATTCTATACGATATATCTAAGCCTAACTAAAAGACTTTAATGGTTTCCTCTGTGCAAATATATCATTTTAGTTTTTCAATCTTCAAAAAAAACCAAAGGGTCCCTGTGCTGACCTGGATTGTTATCCCGAATGGCTGATTTAATAAGTCCTTTAGCATCCTCTGAATTCCAGGGACTGACCACCTTTAAGCCTGGGCAGTGCCCATACCAGGCAGCAAAGCACTGTGAGTGCTGGGCAGCTACACCTGCTGAGGCACCATTGGGCCCTCTGAAGACTATAGGCACAGGCTGAAGGCCACCAGACATGTAGTAGGTCTTGGCAGCTGAGTTTATAACCTGGTCAATGGCTTGCATGGAGAAATTGAAGGTCATAAATTCACAAATGGGCCGCAACCCAGCCTGTAAAATCAAAAACGTGGATGTTAAAAAGACTAGAAACAGCAACAAACAGTAGCAAACAAATCACTCCAAGTCTTCCAACATTCAAATAATGTTTTTATTTTTTATTTTTATTTTTTATGGACAGGGTCTCACTGTCACCCATGCTGGAGTGCAGTGGCACACATCATAGCTCACTGCAGCCTCTAACTCCTAGGCTCAAGTAATCCTTCCTCAGCATCCCGAGTAGCTGGGACTGCAGGCAAGCACCACCACATCTACCTACTTGGTATTTTTTTTTTTTCCCAAATGATGTTTTTAAAAGGTGATGTTAAATCTCTTTGGGGATGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGTCGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAACACAAAAATTGGCTAGGCACAGTGGCGCGACCTGTAACCCCAGCCACTATGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGAAGCTGAGATGGTGCCAGTGCACTCCAGGCTGGACAACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAGAAAACAAGAAATGTCTTTGGATAAGTTTCATAAAGAGTATTACATACCATAGCTGCACCTACAGCAATTCCAGCAAAGCCCATCTATAAAGTAAAATATAAACATAAGTGAAAATCCATAAAAATGAGGATAATGGACACTAACAGACATGCCCTCCAGGGTCTGCTTCCCACTGGAAGGCTTACCTCTGATATGGGAGTGTCAATAATCCTCTTGTCTCCATATTTCTTCCACAGCCCTCGACTAACCTACAATTAAGAGTTGATCCCTTAAGTGTATCTGGGGGTAACAGTGACCTCAATTTTGTATAACTTTCATATATTTTAGTTACCTTGTATGCCCCATCATACTGGGCAACTTCTTCTCCAAGCAGAAATACCTTCTCATCTCTTTCCAGCTCCTCATCCATACCGATTTATAGCATCACGAACTGTCACCTGTCACAGGTATGCAAAAACAGTCAATACAGAATTGTTTGGGATTCAACTAAGATTTTCTTCCTTTATATTTACCTAGGCTGCCCACAGCATACAATATAAAAACACTAGAACAAGCTTCTCTCTAAAAACTCAAAGAATTCTAAAAGTAACATTTCTATTACACATAGTTGGTCTTTGCATGTGTTAATGTACTGAGTGCTCACTAGGTGCCAAGTACTGCCAAATACTTTGCATCCAGAATGTAGGAGTTGCTCTTTTAATATAATGAATGGTAAAATCTAGTTAAAAAAAGGAAGGAGAGGAGAATTAACATACAATCCATCAATTCCACTTCTATGTATATGCCCCAAATAATTGAAAGCAGGGATTCAAGCATATACTTGCACATCAATGTTCACAGCAGCATTACTCACAATAGACAAAACAAGGCCAGGCACGGTGGCTCACACCTGTAATTCCAGCACTCTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCGAGACCACCCTGGCCAACATGGTGAAACCCATTCTCTACTAAAAATACAAAAATTGGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCTGAGATAGTGCCACTGCACTCTAGCCTGGGCAGCAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAAAATGTCGGGCTGAGCGAGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAATATGGTGAGACCCTGTCTGTACTAAAAATACAAAAATTAGCCCGGTGTGGTGGCACCGGCATCTAATCACAGCTACTCAGGAGTGTGAGGCGCGAGAATCCCTTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGGGAGACTATCTCAAAAAAATATACATATATATATTATTCAGCCTTAGGAAAGAATCAAACTCTGACGCATGCTACAACATGGATGAACCTTGAGGACATTACGCTGAGATAAGCCAGACACAAAAGGACAAATGATGCCACTTATAAGAAGTTCTAGAATAGGCAACCTCATAAAGACAGAAAAGTACAACAGGGGTTACCAGGGGTTTGGGGAAGGGAAATGAGGAGTTACCGAGTAATGGACAGTTTCTGCTTGGGATGATTAAAAAGTTCTGGAAATGGATGGTGGTTAATGGTTGTACAACATGGTGAATGTACTTAATGCCACTGAATTATACACTTCTAAAAAGTACATTTTAAGTTAGGTCTATTTTGCTGCAATTTAAAGAAAAAAACATGGAGTGAGGGAGGAAACGCCTAGTCTTAGTTTTCCCCCATTGCCCAGCCAGCTGTGAGGTGGTGACTCGCCGGTGTGCTAATTGCCAGGCGGCGACAGAGGCAGCAGGAGCTCCACGGAGGATGCTGGCTCCGCAAACCCAAGGCCCACGGCGCCGGAAGGCCACAGCGCAGGCGCGACTCCGGCCTCCTTCCCGAGAGAAGGGGGGACCCTCCCCGCCCTCGTCCGACGAGCACCCGCGCCTGTTACCTGCAGCGCAGCCGGCGCGGTCCAGTGAAAGCGCCTCTTCAGCAGCCCGGAGACCTGGCAGGGAGAGAGGAAGATGACGGCGGGACGCAGGGTGGGCAGGGGTCGCGTGGGAATACAGGCCGCGCGCTGCTGCCTACCTCCCGAAGGGGTCTCCGCACCAAGCCAGACACCGCCGCCATCTTGGTCGTGTCCTCTATCCGCTGCCAAACGACAACAGAGGGGCCGGCAGACGTGAGCAGGCCCCGCCTCCACCGGCGCGGGCCAATGGCAAGGCGCGCCGGCTGCGTGACCCGCCCACCCGCCCACCGGGTGAGGGGCCGCGGGGCCGGGCTGAGGTGGCGTGTGGGTGGCCGTGCCCCTCTGCCTGGAGCCGCNN
pathogenic
70,721
Evaluate this variant at chromosome 3, position 64594451, gene ADAMTS9 (ADAM metallopeptidase with thrombospondin type 1 motif 9): benign or pathogenic? If pathogenic, what are the disease connection(s)?
benign
CTACATGAAATAAACCTTATGTTTTCAGTTACAATAATTAGCAGTTCATGTTTTAAAATTTAAACATTTATGCTCTTAAAATATCTGTGGGGGAGGGTAGTGATCCTGTGTAAAAAAAAATTTAGCGTATTTAGAAAGTGTTTAAGGAAGAGAATACCATGGAAATTAATTTATAATTCTCTAAGACTTATGTTTTTCCCCCTGTTTTCCCAAATAATTCTTCCTGGAGAGGTAAATATAGAATAATCAATGGAACTGAGATGATCAATGGAATTGAGTCTGGGAAGGGAAATGCAGGTTTCTTTTTTTCACCAAACCACAAGAATATGCAATAAATAGCCTTGTGTGTTTCTTCCTAAGGGTTAAGAGATTTTTTTTTTTTTGGGTCAAAGTTAATGAACTACGACTTTGTGGACAGCTAGTAGACTTTCTAAAACATAACTCTGGTACTGGTATTGCTGTTGGTCTAGTGAACTGGGTGAAAACACAATGAGCTTAAGAGGGAATTTCACGAAAAATAATATATAATAGGAGATGAGGGAAGTTGGGAATGTCAGAAGATGTTCCTGAGATTCTAAGGTTATTTCTGATCTTCAAAAATGTTCATCTGGGGAAGGTGCCATTATTGTAGGGAAAATGCTCCTACTGAACTGACTAGAGATACAACAGACCAGAGCTCTCTGACCCAGAGTGGCGTTTCTTAAGTTCTGGAAGAAAATACTTAACAGTCCAGCTAAATAGTACCAGTGGAGATAATGCTCCAAATTCTTCTAGATTTCTGCCTAATACAAAGTATAGTGATTATATAGTTAGTGTTACACCTGCAGACACGACCCCAGCCATTGAAACCCTTGACTCTTAGAAATGTCAACAGGTATTAACCATGTCACTTCACTTAATCTGCTCTTTAGCTGGTTTCAGGGATGGTTAAGACTTCTGAGAACCATACTGGGTAAAAAAACATTCTGGATATGACTTAATACAATACTAAATTCAGCTTCAGTGCAATTAATGTATTTACAGGACCATTTTTCCTCTATTTACATGAAACAGCCCTAACGGCTCCACAGCTTATGGGCACAACTCAGCCAAAGTATTGTTTTGACACAGCTGATGCTTCTGTTTGCCAAGAGCTGCCCCAGAAGTTTGCATCATATTTACAGTGGCAAACCTGTCTCACCATGTCAGCTGCTGGCTAAGCAGATAGCAAAGGAAGACTAGGACCAAAGCAAAAAATGGTCCCAAACGGGCTTCCTATCTCTGTGCAAGAGAGAGAACATTTCCGACACCCTAAAAGGCACCAGGTCACCTGTTCCATTTTTGGTCTTTTGCATTTTTAAATGATTTTAGTCTATTTTGTGGGCACAGACTTTGTAAAAATTATGTTCAGAGCTGTACCCGAGTCACACAGGCAAATTACAGTCACTGAAGAAAAATTGCTTTGGCCTCAGTAAGCAGGTATCTTTCCCAAAAAGTCAAAACTACTACAGCTTAGAAAAGGAAAGAATGTGTGCTATTGAGTTGTCTGTTAAAATCACTATGTATGTGTGTGTGTATGATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTAGGCTAAGAAAAGGCAGCTACTTCTTGGCACCAGGTCCTGTATGAGGTACACTTATTCTTTAAAGTCACTTTGGCAATATCATAAAAAGTTAATTCTATTATGTGCCAATATGGAGAAAATAATAGACTATTTATAGCAGAGTTTCTGGGATGCCCTTGTAAGTGTGACAATTATCTGCCACAGAGGAGTGCCCCAGAATACCTTGGAATTAGATAGTTTGGTTAACAAACATGAATAGTTAGGGCCGTACCGAGCTCCAAGGGCCAGTACTCCATGCAGCGTCGTGTGGACAAGCATGTGTGTTACACTGCTCACGATCGGGAGGTTTATCAAGAATTTCACAGCTCAAATCTGGAAACCGTTCACCGTTGGACCGCTGACAGACCACCAGTCTTGTTCTTATGCCTCCACCACACAGCTTAGTGCACTGGAAGAAGGAAAAGGAAGGCTGCAGTTATTTTGTCTGAAAGGCCAATGACAAATTTCCTTTCTCCCTAATTTCTTAGCCAAACTCAATTATGGCATTGGGCAAGGTAAGCCTCTGACAGATGGAACCAAGGTGAATTACCAATAGTGATACGTAAAACAGACCAAGACTCTCCTACTTTAATGGCAGGTATTAGTTATTAAGTGCTTTCTCTTAACTTGCACTGAGGACTTTTGCATATATTATCTAATCAAGAGGAGTGTAATTATTTGCCCCATCTTATATATGAAGCAATTAAGGTGAAGGGAGGTTAATTAACTCGATCAAGTCCAATCTGTTAGCAAGTAACAAAGATCCTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAATGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGTGTGCCATCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCATGATCCTCCCACCTCGGCCTCCCAACAAAGATTCTTTGAGAAATACCAAACCAAACCAAAACAAAACAAAAATAGACAAACAAAAACTACCCAATACCAAACAAAGGAGACAATGACTTAACTGGTTCTATTTTCTGGCAAATTTTAAGAAGCTGTCACCAATCCTTGGCTGTTCTCTGACTCCGTCTCCATAGCCCTTTATGACACTAACCTATTTTACTGTATCTCTGAATGTGAGGACAACTATGACTTTCCCCTTGGATGAATAAACAGCATGGTGGGAACACTGGATAAGGTTCTGACTCCTGGCTAGATCTAAACTTCTGAGGCAGGAACACGTTGTATTTCTTGGACAGTGCTGCTGCGCTCAAATCCAGCAACACTGACATTTGGTTTCCCTGCTGTGTCAAGGCCAGATCTCCCACAGAATTTGGAATGATCTGGTCTGTGCTGACAGCAAAGCATCCCAGCAAGTTCGTGTACTCTCCTGGCTTGAATCCAATTACAGAAGCTTAATCACAGGCCCCACAGGACAGAACTTTGCGAGGAGGTTTTGGGAAATCCACAATACATGAGTCACAAAGCCTCATTCCCTTTTCTTTCCCTTCAACAAAGCTCTCCAGAATGACATAACTGTCAATGAAAGTCAACAATAATCCCGTTATGACTGCCTATGACTACTAGGTTATATGGCTGAAACCATGAAATGTGGACACGTGATTTCATTCAGCCAAGGATGTGGACTAACATGCCCATCAATCTCATTTGTCTTTTTCCCCCCCTTGGCACTGGGACCTCCAAAGTGTTATTTCTCGTGTTTTATTTGATAAATGTTATAGTCAAGACAGAACAACTCAACAAACTTTAAATATGTGCTCTCCCTGTGGATTCAAGAATAGAGAGATATATTCTTAGTTAATTAAACACAAAACAATAAGCATCTAGGCCCTATGTATAATAAGGGCTCAAACCCCCACTTAGTCACAGTATTATTAATAATTATTCTTAACATTAATTATTACTACATTATAGTGGCAGTTAATTGATTAAAGGCGATGTGCTACGCATTTGATAGATACTACCTCATATCATGGTCATAAATACTAAGAAGTTGGTGCTATTACTATCCTTATTTACAGATGAGGATATAAATATTTGGCAAAGATACTACATTATTTGCCAAGGTCACAAAACTTTTAAGAGCCAGAGCTGAGAACAGGACACGGTTTTCTCAGCTTCCAATACTCAGTTGTCCCCTATCAGTCGTCACAGGCAACCCTGAAAAGGTAGCAGCTAAATAATTCCATATTTGAGAAAACACAGCTAACTACTCACTTCTGCAATAAAAATACATCATCTTTCATAGGAATTATAACACCTACTCAATCTGGCTTCATTAGTGACTTGGAATGTTGGGAGACATTATGCCATGGGAACAGGGCATAACACAAACACCCCAAAACTATGAAGAAGAG
CTACATGAAATAAACCTTATGTTTTCAGTTACAATAATTAGCAGTTCATGTTTTAAAATTTAAACATTTATGCTCTTAAAATATCTGTGGGGGAGGGTAGTGATCCTGTGTAAAAAAAAATTTAGCGTATTTAGAAAGTGTTTAAGGAAGAGAATACCATGGAAATTAATTTATAATTCTCTAAGACTTATGTTTTTCCCCCTGTTTTCCCAAATAATTCTTCCTGGAGAGGTAAATATAGAATAATCAATGGAACTGAGATGATCAATGGAATTGAGTCTGGGAAGGGAAATGCAGGTTTCTTTTTTTCACCAAACCACAAGAATATGCAATAAATAGCCTTGTGTGTTTCTTCCTAAGGGTTAAGAGATTTTTTTTTTTTTGGGTCAAAGTTAATGAACTACGACTTTGTGGACAGCTAGTAGACTTTCTAAAACATAACTCTGGTACTGGTATTGCTGTTGGTCTAGTGAACTGGGTGAAAACACAATGAGCTTAAGAGGGAATTTCACGAAAAATAATATATAATAGGAGATGAGGGAAGTTGGGAATGTCAGAAGATGTTCCTGAGATTCTAAGGTTATTTCTGATCTTCAAAAATGTTCATCTGGGGAAGGTGCCATTATTGTAGGGAAAATGCTCCTACTGAACTGACTAGAGATACAACAGACCAGAGCTCTCTGACCCAGAGTGGCGTTTCTTAAGTTCTGGAAGAAAATACTTAACAGTCCAGCTAAATAGTACCAGTGGAGATAATGCTCCAAATTCTTCTAGATTTCTGCCTAATACAAAGTATAGTGATTATATAGTTAGTGTTACACCTGCAGACACGACCCCAGCCATTGAAACCCTTGACTCTTAGAAATGTCAACAGGTATTAACCATGTCACTTCACTTAATCTGCTCTTTAGCTGGTTTCAGGGATGGTTAAGACTTCTGAGAACCATACTGGGTAAAAAAACATTCTGGATATGACTTAATACAATACTAAATTCAGCTTCAGTGCAATTAATGTATTTACAGGACCATTTTTCCTCTATTTACATGAAACAGCCCTAACGGCTCCACAGCTTATGGGCACAACTCAGCCAAAGTATTGTTTTGACACAGCTGATGCTTCTGTTTGCCAAGAGCTGCCCCAGAAGTTTGCATCATATTTACAGTGGCAAACCTGTCTCACCATGTCAGCTGCTGGCTAAGCAGATAGCAAAGGAAGACTAGGACCAAAGCAAAAAATGGTCCCAAACGGGCTTCCTATCTCTGTGCAAGAGAGAGAACATTTCCGACACCCTAAAAGGCACCAGGTCACCTGTTCCATTTTTGGTCTTTTGCATTTTTAAATGATTTTAGTCTATTTTGTGGGCACAGACTTTGTAAAAATTATGTTCAGAGCTGTACCCGAGTCACACAGGCAAATTACAGTCACTGAAGAAAAATTGCTTTGGCCTCAGTAAGCAGGTATCTTTCCCAAAAAGTCAAAACTACTACAGCTTAGAAAAGGAAAGAATGTGTGCTATTGAGTTGTCTGTTAAAATCACTATGTATGTGTGTGTGTATGATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTAGGCTAAGAAAAGGCAGCTACTTCTTGGCACCAGGTCCTGTATGAGGTACACTTATTCTTTAAAGTCACTTTGGCAATATCATAAAAAGTTAATTCTATTATGTGCCAATATGGAGAAAATAATAGACTATTTATAGCAGAGTTTCTGGGATGCCCTTGTAAGTGTGACAATTATCTGCCACAGAGGAGTGCCCCAGAATACCTTGGAATTAGATAGTTTGGTTAACAAACATGAATAGTTAGGGCCGTACCGAGCTCCAAGGGCCAGTACTCCATGCAGCGTCGTGTGGACAAGCATGTGTGTTACACTGCTCACGATCGGGAGGTTTATCAAGAATTTCACAGCTCAAATCTGGAAACCGTTCACCGTTGGACCGCTGACAGACCACCAGTCTTGTTCTTATGCCTCCACCACACAGCTTAGTGCACTGGAAGAAGGAAAAGGAGGCTGCAGTTATTTTGTCTGAAAGGCCAATGACAAATTTCCTTTCTCCCTAATTTCTTAGCCAAACTCAATTATGGCATTGGGCAAGGTAAGCCTCTGACAGATGGAACCAAGGTGAATTACCAATAGTGATACGTAAAACAGACCAAGACTCTCCTACTTTAATGGCAGGTATTAGTTATTAAGTGCTTTCTCTTAACTTGCACTGAGGACTTTTGCATATATTATCTAATCAAGAGGAGTGTAATTATTTGCCCCATCTTATATATGAAGCAATTAAGGTGAAGGGAGGTTAATTAACTCGATCAAGTCCAATCTGTTAGCAAGTAACAAAGATCCTTTCTTTTTTTTTGAGACGGAGTCTTGCTCTGTCATCCAGGCTGGAATGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGTGTGCCATCACACTCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCATGATCCTCCCACCTCGGCCTCCCAACAAAGATTCTTTGAGAAATACCAAACCAAACCAAAACAAAACAAAAATAGACAAACAAAAACTACCCAATACCAAACAAAGGAGACAATGACTTAACTGGTTCTATTTTCTGGCAAATTTTAAGAAGCTGTCACCAATCCTTGGCTGTTCTCTGACTCCGTCTCCATAGCCCTTTATGACACTAACCTATTTTACTGTATCTCTGAATGTGAGGACAACTATGACTTTCCCCTTGGATGAATAAACAGCATGGTGGGAACACTGGATAAGGTTCTGACTCCTGGCTAGATCTAAACTTCTGAGGCAGGAACACGTTGTATTTCTTGGACAGTGCTGCTGCGCTCAAATCCAGCAACACTGACATTTGGTTTCCCTGCTGTGTCAAGGCCAGATCTCCCACAGAATTTGGAATGATCTGGTCTGTGCTGACAGCAAAGCATCCCAGCAAGTTCGTGTACTCTCCTGGCTTGAATCCAATTACAGAAGCTTAATCACAGGCCCCACAGGACAGAACTTTGCGAGGAGGTTTTGGGAAATCCACAATACATGAGTCACAAAGCCTCATTCCCTTTTCTTTCCCTTCAACAAAGCTCTCCAGAATGACATAACTGTCAATGAAAGTCAACAATAATCCCGTTATGACTGCCTATGACTACTAGGTTATATGGCTGAAACCATGAAATGTGGACACGTGATTTCATTCAGCCAAGGATGTGGACTAACATGCCCATCAATCTCATTTGTCTTTTTCCCCCCCTTGGCACTGGGACCTCCAAAGTGTTATTTCTCGTGTTTTATTTGATAAATGTTATAGTCAAGACAGAACAACTCAACAAACTTTAAATATGTGCTCTCCCTGTGGATTCAAGAATAGAGAGATATATTCTTAGTTAATTAAACACAAAACAATAAGCATCTAGGCCCTATGTATAATAAGGGCTCAAACCCCCACTTAGTCACAGTATTATTAATAATTATTCTTAACATTAATTATTACTACATTATAGTGGCAGTTAATTGATTAAAGGCGATGTGCTACGCATTTGATAGATACTACCTCATATCATGGTCATAAATACTAAGAAGTTGGTGCTATTACTATCCTTATTTACAGATGAGGATATAAATATTTGGCAAAGATACTACATTATTTGCCAAGGTCACAAAACTTTTAAGAGCCAGAGCTGAGAACAGGACACGGTTTTCTCAGCTTCCAATACTCAGTTGTCCCCTATCAGTCGTCACAGGCAACCCTGAAAAGGTAGCAGCTAAATAATTCCATATTTGAGAAAACACAGCTAACTACTCACTTCTGCAATAAAAATACATCATCTTTCATAGGAATTATAACACCTACTCAATCTGGCTTCATTAGTGACTTGGAATGTTGGGAGACATTATGCCATGGGAACAGGGCATAACACAAACACCCCAAAACTATGAAGAAGAGN
benign
70,815
Variant in gene ADAMTS9 (ADAM metallopeptidase with thrombospondin type 1 motif 9), located at chromosome 3 position 64621254: benign or pathogenic? What disease(s) does it cause if pathogenic?
benign
TAGTTATAATCAGAGACTCAACCAGTCTCGTTCTGATTCAATCAGTGGAGAAAAAACAGGTAAGGGGCTCCAAGCAAGGTAGGGAACAGGGATGGGGCAAAAAAACTCATGGGAATTATTTCTTTTCACAAAGGAAGAGAAGCTACCCAGAATAGAATCCATGAGTAACACTCATCGTTATAACTGAATTAAGAATAAAAATAACTCTCTCCTAGGATTTAAGCACAGGATCTAGGTACAGATTTAGATTTCCGTCACTCCACTAACTCGTTGTGTGAGCTTGTGCAATTTGTTTAACGACTCTCAGCCTCTATTTTCCTTATTTGTAAAGTGGTAAGAATAATAATATATAAATCATAATGTTGTTTGAAGAATTAGTAGGGTATTAATTATATTAACAGGATAATAGATAATGGGATAATATAAGAACAATCCTATTAGTAAAAGAATATTAATAGGATAATATATAACTGTTAGAAAAAATAGTTCTTAGTAAATGGTTGACTCTATTACCATAACCATTACAGAGTACTGGGGAATATAGTGATAATTTGATATAAGGCTACCCAGAAAATGTCACCATTCTCAATTTATTAAGGTTGTGCCTCAAGGAATCTATCCACCAATTCATTTTTTTCCCCAAACTGTAGTGATTAATTCAGTTTAGCGGTTAGTTAACTAATTATTTTTTCCTGAAGAGACTTGAACTTTAATTTAACTCAATTGGCTGAAACAAAGATGGGTTTATATGGACACTATCTACAACAAGAATATTGCCTAGTATAAACGTCTGCCTTTTAATGTCTTCCTGTTTTTTTTTTTTTACAATGACTTTTGTCAATATATTTTGGCAAGCCAATTTCACTAGGGCAATGAGCTAGAAAGTCAGTGACACTGGGTAGAGGCTAGAAAGATCCTGGGCTTTGAAGTCAGAGCCTTCAGTCAGAACTGGCAAAAATATGACACTCGTACCATAACTGCTCCTCTCACTTCCATGGCAGACATTAGTAGTCAATCTCAGAACTCCTCTATTTTCTCAGAGCCTCAAGTAGGCCTCATAATCTGCCCTAAAGCACTACAGGCAGCCAATACCCTTTGATAGGATTTGGCATTGTAATGTGGAGCCTTCAAAGTGCTTAAGTATTCACTTTTCTGCTTATAAATGGTGAGACCTTAACACATTCCTATACCACTCTCCACTGAATTTCCCTTCTTAAAAGGAGGACAAAACAGCAACTCACCTTAACTGCATTTAACTGTCATGCAGAGTATAAAATGCAAGCCCCGACTACTTAATATTTCAATATGACACAGTCAACCTTGCAGGCAAATAGAAAAGCTTCAGAATGCTCTACCCACCCAGTATTTCCTGCCTCGGATTTTACACTTTTCTTAAACACAGAATTGTTTGAATATCTCAGACATCCATATATACATTTTCTTCTTGTTTCTTCCATGACGCTACCTTAGTGTACTGCAACTTTCAGGTGTGTAGGAGTTCTTCTACTGGGTGGTATACACTCTCGGTAGATATAGGTCATTATGGGTACTTTGAGGGATGAGGTTCTCCCCCTTTTCTTTTGACTTTCAAAACAAGTTTTCACGTACAATGTGACTCAATCATAATGCTAATACCTACCCAGCAAGTTGTGAGGATCAACTGAATTTTTTTTGGCAAGTGCCATACTCTATTAGCTATTTTTAATTCTTAGGTGAACAAGAAATCTGCACATGTATGTCTTGGATAATCAGTTCCAGAGGGATGGAGAATTGGTTAAAGCTTATTTCACTGAAACACAAGAAAGGGGAACTAAAGACCAGCATCCCCTCCTTTTGCTTCTCCTGCTGGGACCTCCTGCAAGACTCTCACAATTCAGTAATAAAGGCCTTGAGAAAACAGTGGCCCACCTCAGGTCACAGTCTGTACCACAGGGTTCAGTAATGTGTCCAGGCTGGGGCAGCCGATCGCATCTTTGATCAGAAACAGTAAGCTGATCAGATTCCCTGGTGCAAACAAGTTTTCGTTTCCGTTCCCCTAAGCAGAAAGGGAAAAAAAATTATTCAGGGAAAATAATCTATTCCATAAACTATTTAGACCCCGGATTGGCAAGCATTTTCTCTAAAGAGCCAGACAGTAAATATCTTCAGAGCGTATGATCTCTGTTGCACTATTCAACCCTGACATTACAGGGCAAAAGCAGCCACTCACAGGCAATACATAAACAAAATTGTCATGACTGTGTTCCAATAAAACTTTATTTGTAAAAGTAGGTAGGCCGGGCACAGTGGCTCAAACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGCGGATCATCTGAGGTCAGATGTTTGAGAACAGCCTGGCTAACGTGGTGAAACCCGTTCTCTACCAAAAACACAAAAATTACCCGGGCATGGTGGCATGCACCTGTGATCCCAGCTACTCGGGAGACTGAGGCATGAGAATTGCTTGAACCAGGGAGGCACAGGTTGCAGTGGGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGACCAAGACTCCATCTCAAAAAAATAAAAAAATAAAAAAATAAAAAAATAAAAAGAAAAGAAAAAGAAAAAAAAGGTAGGCGGTAGGCTGGATTTGGCCTGCTGGCTGTGGTTTGCTGACTCCTCATTTAGACAAAAGAAAACAAAATAAATAACATATGCTATGACTACTAAAACCATGCTCTGGAAAATTACAATGGCGGAGGTGATTTTTGCTTGGTTTTACACATGTGTACAAAAATTTCTTAGGATGAAGAAATCTAAAATTTCTTGAATCACTTAAAAAGTTCAACTTCCCAGCCAAAAATGACCAGACACATTCAAAGAAAAGAGATTAGAGAACGTATGCAGATAGAAGGGTTTGCAGTTTGCATGCATTTGGCTGTTATTAAAAATAAATAAATAAATAAAATAAACTTCTCAAATCCCCAGAACTCAAATTCAAAGCAGATACCTTGGCAGGGTTTACTGCATGCTTGCCATGGCCCATGACTGTTCCAGTAAAACTGCTGAGGTTTATCTTCAATTGGAATATTGAAAGAATAGCGTACATCGGGGTTGTACAACTTTCCCACCGACAAAACCTAGAATGTGTGGACAAAACAGAAACGAACTGGGTGGGCTTAGTAATGCCAAGCAGAAGAAAAGGGTGGTGGGCTCATGGTCAAGTTTTTACCTGAAGCAAAAGTTCTTGCTCAATGCGATCTGTTGAGTTAATTCTTTCTACGGCAGTCTCGGACCCACTGTACTCTACCACAGCATTCCCAATGCGAATTTCCCTTTTGGCCATTGTGACAACAAAGTTTCCATTTAGCAAGAATTCACCTTTACTGCTTGATAAAGCTGTAGGTGAAGAAACAGAATAATACATTGATCTGCTGTCAATGACTAGCTGTTTGAAATATGAAGTAACATCTGGATAGGTAGAGAGTCGCTGTGCACGGAATGGGGACTTTTGAGGCAGACAGGCATGGCTTCAAGTCCCAAGTTTGCTACTTGCCAGCTGTGTGGCTTTGGGAATCATTTTCCATCCATCTCCATTTCTTTATCTCTAAAGTGGAGATAAAAGCACCTACTCCCTTGTGGTATCTGTGAAAAATAAAATGTAACCTAGGTGTCCTAATAAACCTTGATCTTGTTATACAAGACCCACAGTTATAGAATTATAGATGGAAACAAAAGTGTTTATATGATTTGAAAATATGCATTAGTGAACGGAACACTTACAAAATTGGTTCCTAGACAAATCTATATATACTAGAATTAGTCAAGCCTGTTGAATCTTTGTTAAGTCTTTTTTGTTTGACAGATGTTGAAATCTGAAAATCCATGGTTAATATGATGCTCAAAGATCTCCTTATCAGTGTAGCTCACTGTGGTAGCCAGCCTCAAATATGGCCCCAACGAGCCTTGTGGCATGGTATTCACACTATGTGTCATCCCCTCCCACATTCAATAGGAATGACTGCAATCACTAGGACAATGCAGAAACAACAGAACCTGACTTCTAAGGCAAGGCCAAAGGCACTTTGGCTCTGCCTTGCTCTTCCTTGGACCT
TAGTTATAATCAGAGACTCAACCAGTCTCGTTCTGATTCAATCAGTGGAGAAAAAACAGGTAAGGGGCTCCAAGCAAGGTAGGGAACAGGGATGGGGCAAAAAAACTCATGGGAATTATTTCTTTTCACAAAGGAAGAGAAGCTACCCAGAATAGAATCCATGAGTAACACTCATCGTTATAACTGAATTAAGAATAAAAATAACTCTCTCCTAGGATTTAAGCACAGGATCTAGGTACAGATTTAGATTTCCGTCACTCCACTAACTCGTTGTGTGAGCTTGTGCAATTTGTTTAACGACTCTCAGCCTCTATTTTCCTTATTTGTAAAGTGGTAAGAATAATAATATATAAATCATAATGTTGTTTGAAGAATTAGTAGGGTATTAATTATATTAACAGGATAATAGATAATGGGATAATATAAGAACAATCCTATTAGTAAAAGAATATTAATAGGATAATATATAACTGTTAGAAAAAATAGTTCTTAGTAAATGGTTGACTCTATTACCATAACCATTACAGAGTACTGGGGAATATAGTGATAATTTGATATAAGGCTACCCAGAAAATGTCACCATTCTCAATTTATTAAGGTTGTGCCTCAAGGAATCTATCCACCAATTCATTTTTTTCCCCAAACTGTAGTGATTAATTCAGTTTAGCGGTTAGTTAACTAATTATTTTTTCCTGAAGAGACTTGAACTTTAATTTAACTCAATTGGCTGAAACAAAGATGGGTTTATATGGACACTATCTACAACAAGAATATTGCCTAGTATAAACGTCTGCCTTTTAATGTCTTCCTGTTTTTTTTTTTTTACAATGACTTTTGTCAATATATTTTGGCAAGCCAATTTCACTAGGGCAATGAGCTAGAAAGTCAGTGACACTGGGTAGAGGCTAGAAAGATCCTGGGCTTTGAAGTCAGAGCCTTCAGTCAGAACTGGCAAAAATATGACACTCGTACCATAACTGCTCCTCTCACTTCCATGGCAGACATTAGTAGTCAATCTCAGAACTCCTCTATTTTCTCAGAGCCTCAAGTAGGCCTCATAATCTGCCCTAAAGCACTACAGGCAGCCAATACCCTTTGATAGGATTTGGCATTGTAATGTGGAGCCTTCAAAGTGCTTAAGTATTCACTTTTCTGCTTATAAATGGTGAGACCTTAACACATTCCTATACCACTCTCCACTGAATTTCCCTTCTTAAAAGGAGGACAAAACAGCAACTCACCTTAACTGCATTTAACTGTCATGCAGAGTATAAAATGCAAGCCCCGACTACTTAATATTTCAATATGACACAGTCAACCTTGCAGGCAAATAGAAAAGCTTCAGAATGCTCTACCCACCCAGTATTTCCTGCCTCGGATTTTACACTTTTCTTAAACACAGAATTGTTTGAATATCTCAGACATCCATATATACATTTTCTTCTTGTTTCTTCCATGACGCTACCTTAGTGTACTGCAACTTTCAGGTGTGTAGGAGTTCTTCTACTGGGTGGTATACACTCTCGGTAGATATAGGTCATTATGGGTACTTTGAGGGATGAGGTTCTCCCCCTTTTCTTTTGACTTTCAAAACAAGTTTTCACGTACAATGTGACTCAATCATAATGCTAATACCTACCCAGCAAGTTGTGAGGATCAACTGAATTTTTTTTGGCAAGTGCCATACTCTATTAGCTATTTTTAATTCTTAGGTGAACAAGAAATCTGCACATGTATGTCTTGGATAATCAGTTCCAGAGGGATGGAGAATTGGTTAAAGCTTATTTCACTGAAACACAAGAAAGGGGAACTAAAGACCAGCATCCCCTCCTTTTGCTTCTCCTGCTGGGACCTCCTGCAAGACTCTCACAATTCAGTAATAAAGGCCTTGAGAAAACAGTGGCCCACCTCAGGTCACAGTCTGTACCACAGGGTTCAGTAATGTGTCCAGGCTGGGGCAGCCGATCGCATCTTTGATCAGAAACAGTAAGCTGATCAGATTCCCTGGTGCAAACAAGTTTTCGTTTCCGTTCCCCTAAGCAGAAAGGGAAAAAAATTATTCAGGGAAAATAATCTATTCCATAAACTATTTAGACCCCGGATTGGCAAGCATTTTCTCTAAAGAGCCAGACAGTAAATATCTTCAGAGCGTATGATCTCTGTTGCACTATTCAACCCTGACATTACAGGGCAAAAGCAGCCACTCACAGGCAATACATAAACAAAATTGTCATGACTGTGTTCCAATAAAACTTTATTTGTAAAAGTAGGTAGGCCGGGCACAGTGGCTCAAACCTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGCGGATCATCTGAGGTCAGATGTTTGAGAACAGCCTGGCTAACGTGGTGAAACCCGTTCTCTACCAAAAACACAAAAATTACCCGGGCATGGTGGCATGCACCTGTGATCCCAGCTACTCGGGAGACTGAGGCATGAGAATTGCTTGAACCAGGGAGGCACAGGTTGCAGTGGGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGACCAAGACTCCATCTCAAAAAAATAAAAAAATAAAAAAATAAAAAAATAAAAAGAAAAGAAAAAGAAAAAAAAGGTAGGCGGTAGGCTGGATTTGGCCTGCTGGCTGTGGTTTGCTGACTCCTCATTTAGACAAAAGAAAACAAAATAAATAACATATGCTATGACTACTAAAACCATGCTCTGGAAAATTACAATGGCGGAGGTGATTTTTGCTTGGTTTTACACATGTGTACAAAAATTTCTTAGGATGAAGAAATCTAAAATTTCTTGAATCACTTAAAAAGTTCAACTTCCCAGCCAAAAATGACCAGACACATTCAAAGAAAAGAGATTAGAGAACGTATGCAGATAGAAGGGTTTGCAGTTTGCATGCATTTGGCTGTTATTAAAAATAAATAAATAAATAAAATAAACTTCTCAAATCCCCAGAACTCAAATTCAAAGCAGATACCTTGGCAGGGTTTACTGCATGCTTGCCATGGCCCATGACTGTTCCAGTAAAACTGCTGAGGTTTATCTTCAATTGGAATATTGAAAGAATAGCGTACATCGGGGTTGTACAACTTTCCCACCGACAAAACCTAGAATGTGTGGACAAAACAGAAACGAACTGGGTGGGCTTAGTAATGCCAAGCAGAAGAAAAGGGTGGTGGGCTCATGGTCAAGTTTTTACCTGAAGCAAAAGTTCTTGCTCAATGCGATCTGTTGAGTTAATTCTTTCTACGGCAGTCTCGGACCCACTGTACTCTACCACAGCATTCCCAATGCGAATTTCCCTTTTGGCCATTGTGACAACAAAGTTTCCATTTAGCAAGAATTCACCTTTACTGCTTGATAAAGCTGTAGGTGAAGAAACAGAATAATACATTGATCTGCTGTCAATGACTAGCTGTTTGAAATATGAAGTAACATCTGGATAGGTAGAGAGTCGCTGTGCACGGAATGGGGACTTTTGAGGCAGACAGGCATGGCTTCAAGTCCCAAGTTTGCTACTTGCCAGCTGTGTGGCTTTGGGAATCATTTTCCATCCATCTCCATTTCTTTATCTCTAAAGTGGAGATAAAAGCACCTACTCCCTTGTGGTATCTGTGAAAAATAAAATGTAACCTAGGTGTCCTAATAAACCTTGATCTTGTTATACAAGACCCACAGTTATAGAATTATAGATGGAAACAAAAGTGTTTATATGATTTGAAAATATGCATTAGTGAACGGAACACTTACAAAATTGGTTCCTAGACAAATCTATATATACTAGAATTAGTCAAGCCTGTTGAATCTTTGTTAAGTCTTTTTTGTTTGACAGATGTTGAAATCTGAAAATCCATGGTTAATATGATGCTCAAAGATCTCCTTATCAGTGTAGCTCACTGTGGTAGCCAGCCTCAAATATGGCCCCAACGAGCCTTGTGGCATGGTATTCACACTATGTGTCATCCCCTCCCACATTCAATAGGAATGACTGCAATCACTAGGACAATGCAGAAACAACAGAACCTGACTTCTAAGGCAAGGCCAAAGGCACTTTGGCTCTGCCTTGCTCTTCCTTGGACCTN
benign
70,838
Chromosome 3, position 67498302, gene SUCLG2 (succinate-CoA ligase GDP-forming subunit beta): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
benign
AGGAAGTTTTAGGTTCTGCAAAGTGTAAGCTTAAGAGAATCAGGAGGCAGAGAAACAAGCTATTGGAAGTTGCTAGGACCTATGAATTACATTCTTTTTAATATACTTTAAGAGACAGGAGTAAAGAATGGAATTCTCAATGTTTTGTTTGCTGAGAATATGGTCCTTTGAATGTGGCATCTGTGGGATTGAACCACAGGCTTCCCAACTTCAGTGGGATTTTATACTTTTTTACACTTAGTACAGTCATACATGTTTACATAATGTTACCTGGATAAACTTAGAAACAAATGAACAAATGACTGCACAAAAACAATATTCTTATCCCCTTGTTCCTCTTTCAAATTAATATAAGCAATGCTCACCAGCAACCCAACCGTTAAAACTGGAACCAAAATGTGCCAACATCTTAGGAGCCTTTCTTAAGAAAGTAGGTAGAGAGTTTTAATATCAAAAGTCTTGTTTTCCAGAGCTAAGTTTTATTGATCAATTGCACTTATTTTGCTTCTTAAGCTTAATTATATAAAATTACTTTCCTTGAGAGAGAAAAAAAAAACTCCAGAACACAGCAGAAACTCACAAGGTAAAGTACCTTTCATTTTTCTGACCCTCCAATTCCCTAGAAAAGCCTATGACTGTGACTAATTAAATTTGGAGTAACTAAAATAAAAATGGTTTACACAGAATCTTAAAACAATTTGAAATGTGTAAATCATAGATTTTGAGGCTGCTATGTGGTCAAACCATGCACATTCCTACAGAGGCTATAAATAATCTGTATTTAATTTGGTTTAAACCCATATACCTTTCCCCTTTCTAAATGCCTACAAATATTGAGAGTGCATTAGCTTATCAGGATCAGAATGATGTGAGTGATCTGGTACATTATAGTTATTGCTCCAATACAAAGCAAGAGCTTTTGGTATCACTTGTAATTGGATGTCATTTTCTATTGTATTGAACAGCCACCTCTTGGATGAGGTCTCTTCAGTTCTGAATACAATGATATTGCTGGTTTAATGAGCTACAAATCATTTTTATTTTAATTCCATTAAGATTAAGACCTCAGTTTCCAGTACAATGAATTGATTCTACCAGAAACACAGTCTTGTGCAATTAAGTCAGAAGCATATAAATCTGAGCACTATAAGCTGTGAACAATAATAGAAACTGTATTGCTTCTACAGACATTCTTATCTCAGCTGAAGAAGCCATTTTCACAAATTTAGATGAGTGTGATAAAATCAATTGTTTTATTAATAAACTAGCATAATGGATTAAACATTTCATCCTTTGGTTATCACAGAACCTGAAACTTTAGCAACGTGATTAAAGTGTATGTCCTCTTCTATTTCCTCTGATAAAGGAATTTTGTTTTAAACCTAAATTTCAGAAGAGTTCTGCATATTAATACTGAGTTGAGCAGCAAAGGTTCTAATTTTTTACTAAGCAAAGTTTAACTGAGATGTTTTAAGTCAATATTTCTCAGTTGGGGTGATTTTTGCATACCACAGCCATTTGGAACTGTCTGAAGACATTTATTTTAATTTATTGATTTACATGGGTTTATTTGTCTTCACAAGTGGGGGTTGTTAGTAGTATCTAGAGGTTAGGATGCTAAACATCTTATGATGTACAGGACAGTAAAGAATTATCCCACCCAAACTCCCAATAGTGCCAGAGTTGAGAAATTCTGCTTTACACCAGTGACCATTAATCAAAACAACTTTGAGAAGAAACTTGGATACTTTCCTAAGACTTTTCAGCTACAAAAAAACTTATGTGCTTACTTCTTCTTGGTAAGTGACATTTCAGAAATCAAGGTTTCCTAAATTCTATAAGAATCCACAAAGCATTCTTTTGATATAACTGCTTCTTACCAAAGCAGGCAATGTTCCCATCTAGTCCTATGTATTTTAGATCATATTTGGCAGCTTCATTTTCAATGGGCTCATTCTCTGATTTGTCGTCCATAGCAAATATGTCTTTTTGTCGGAATTCTGCGTTGTCATCAAAGTTTATCTTGGCATCAAAACAGACAACTAAATAAAGAAGAAAACAATCATACTTGAATATCTCTTGAGGATCTATAAATTAAGTTCTTCAGGCTGGTAGGCACAAGCGAAGGGAAAGTTAAGTACTGTCATTTTTTTTCACATGTTACAGGCAGGAGAGGCTGCTTTGGCTTTCTTGACCTTTAAATTTTAGGGTTTGGTCCCTGTTGTCAAGGGACTTACGTTCTAGTAAAGAACATAGTAATTTCTACCTGTTGTTCTCATTTCAATAGAATAACCCCAAAAGTTGCCATCAACCATTAAAAGTTACAGACTGGCACAGCTTCATAGATACAGCTTTGATTCATTATTTTTATTATATATTTTTAGTATTTAACCACTAATTATCACCTTTCTCTTCTATGTAAAGAGAGACTAGACAATATTATTAATTATTTTGTCCCCTATTGTCCTTTTCTTGATATGGTAAAGTGAAATTTTTATTGAATCAGTATCCTGTCTAGTATTTCCAAAAGATTTAGTGGAAAGAATGCCAGACTAGAATCGCTCGATTTTTATTTGATCCTTAACTAACTCTGTAACATTTATTAAAAATAAAAATTGTATACACTTGAGTCTTGAACAACATGGGTTTGAACTGTGAGGGTCCACTTATAGCTGGATTTTTATTCTCAAGATGTAAAGCCCCAGAGGGTCGACTTTTCACATACATGGGTTCTGCAAGGCCAACTGCAGGAATTGTGCAATATGAACGAAGTTTGGTATATCTGAGATTCCTGGAACCGATTCCCTGCATATATTGAGGGACAACTGTGTATTTAAAGCATACAACATCATGTTTTGATATACATATAACACAGTGAAATAATTAAACACAGTGAAATGATTACTACACTGAAGCAAATTAACACATCCATCTTCTCATATAGTTTTTGGTTTTTCTTTTTGGTGTGGGAGAGCACTTAAAATATATACTTTTAGCAATTTCCAGCATACATTACTAACTCTGTAACCTTGATAAAATAACCTAGTTCTTCTCTGGGCCTTGGTTTTTTAATTGGAAAAAATGGCAATAACAATCCTTAAAACAAGGGCCATGCCCTTGATTCGTGCAGGACCATCTTATGGTGCTTCAGATTCAAGTTATAAGACACGAAAAGACCAAGACTGGTCAGTCACAAAGCCAGGATGCCAGGCATTATTAGCACAATTGTCTCTAGTTTCTGGAGCTGGTGGAAATCTCCTGGACCCAGCAAAACTCATTCCATAATAGGAGACAGACTACAGGGCACTTTCCTTGATTTACAGATCTCCTATACATACAATCAGGGAGAGACTGCAGTGGAGAGGGTGGCATTATTGGTATCTGGGTATCTGACCCCTTTTATTATCTCTCTTAGTGTAGAAATTAGTGTTCTGTGATGCCATGTCATCATAATGTTTGTTTGTTTGTTTATTTATTTATTTATTTATTTATTTCGGAGACAGAGTCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTATAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTACAGGCATGTGCCACCATGCCCAGGTAATTTTTTGTATTTTTAGTACAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCAATGTTCTTTTACTTAACTTGGGATATTGATAGCCAGGAATCTTTGAACAATAATTTACAGATACTACCTATTCTCCTCCAGCATTGCTGACAGGCACCTGACTCTTGAAAGGGAAACAGCCACAGAACATTTCTCACTCACTGAAAAGCAGTGGCTATAATCTCCTAATTATACTTGCTTCTTATGAAAATAAAACATGGCTGTATATGGCATCTTGGCGTTAGAGACCCCAGGTAGAGGGTTTTCTCCAAGGGTTTCCCTACCACAATATTCAAGCACTTTGATACAAATCTGTGTAGACCAGCATATTAACATCTA
AGGAAGTTTTAGGTTCTGCAAAGTGTAAGCTTAAGAGAATCAGGAGGCAGAGAAACAAGCTATTGGAAGTTGCTAGGACCTATGAATTACATTCTTTTTAATATACTTTAAGAGACAGGAGTAAAGAATGGAATTCTCAATGTTTTGTTTGCTGAGAATATGGTCCTTTGAATGTGGCATCTGTGGGATTGAACCACAGGCTTCCCAACTTCAGTGGGATTTTATACTTTTTTACACTTAGTACAGTCATACATGTTTACATAATGTTACCTGGATAAACTTAGAAACAAATGAACAAATGACTGCACAAAAACAATATTCTTATCCCCTTGTTCCTCTTTCAAATTAATATAAGCAATGCTCACCAGCAACCCAACCGTTAAAACTGGAACCAAAATGTGCCAACATCTTAGGAGCCTTTCTTAAGAAAGTAGGTAGAGAGTTTTAATATCAAAAGTCTTGTTTTCCAGAGCTAAGTTTTATTGATCAATTGCACTTATTTTGCTTCTTAAGCTTAATTATATAAAATTACTTTCCTTGAGAGAGAAAAAAAAAACTCCAGAACACAGCAGAAACTCACAAGGTAAAGTACCTTTCATTTTTCTGACCCTCCAATTCCCTAGAAAAGCCTATGACTGTGACTAATTAAATTTGGAGTAACTAAAATAAAAATGGTTTACACAGAATCTTAAAACAATTTGAAATGTGTAAATCATAGATTTTGAGGCTGCTATGTGGTCAAACCATGCACATTCCTACAGAGGCTATAAATAATCTGTATTTAATTTGGTTTAAACCCATATACCTTTCCCCTTTCTAAATGCCTACAAATATTGAGAGTGCATTAGCTTATCAGGATCAGAATGATGTGAGTGATCTGGTACATTATAGTTATTGCTCCAATACAAAGCAAGAGCTTTTGGTATCACTTGTAATTGGATGTCATTTTCTATTGTATTGAACAGCCACCTCTTGGATGAGGTCTCTTCAGTTCTGAATACAATGATATTGCTGGTTTAATGAGCTACAAATCATTTTTATTTTAATTCCATTAAGATTAAGACCTCAGTTTCCAGTACAATGAATTGATTCTACCAGAAACACAGTCTTGTGCAATTAAGTCAGAAGCATATAAATCTGAGCACTATAAGCTGTGAACAATAATAGAAACTGTATTGCTTCTACAGACATTCTTATCTCAGCTGAAGAAGCCATTTTCACAAATTTAGATGAGTGTGATAAAATCAATTGTTTTATTAATAAACTAGCATAATGGATTAAACATTTCATCCTTTGGTTATCACAGAACCTGAAACTTTAGCAACGTGATTAAAGTGTATGTCCTCTTCTATTTCCTCTGATAAAGGAATTTTGTTTTAAACCTAAATTTCAGAAGAGTTCTGCATATTAATACTGAGTTGAGCAGCAAAGGTTCTAATTTTTTACTAAGCAAAGTTTAACTGAGATGTTTTAAGTCAATATTTCTCAGTTGGGGTGATTTTTGCATACCACAGCCATTTGGAACTGTCTGAAGACATTTATTTTAATTTATTGATTTACATGGGTTTATTTGTCTTCACAAGTGGGGGTTGTTAGTAGTATCTAGAGGTTAGGATGCTAAACATCTTATGATGTACAGGACAGTAAAGAATTATCCCACCCAAACTCCCAATAGTGCCAGAGTTGAGAAATTCTGCTTTACACCAGTGACCATTAATCAAAACAACTTTGAGAAGAAACTTGGATACTTTCCTAAGACTTTTCAGCTACAAAAAAACTTATGTGCTTACTTCTTCTTGGTAAGTGACATTTCAGAAATCAAGGTTTCCTAAATTCTATAAGAATCCACAAAGCATTCTTTTGATATAACTGCTTCTTACCAAAGCAGGCAATGTTCCCATCTAGTCCTATGTATTTTAGATCATATTTGGCAGCTTCATTTTCAATGGGCTCATTCTCTGATTTGTCGTCCATAGCAAATATGTCTTTTTGTCGGAATTCTGCGTTGTCATCAAAGTTTATCTTGGCATCAAAACAGACAACTAAATAAAGAAAACAATCATACTTGAATATCTCTTGAGGATCTATAAATTAAGTTCTTCAGGCTGGTAGGCACAAGCGAAGGGAAAGTTAAGTACTGTCATTTTTTTTCACATGTTACAGGCAGGAGAGGCTGCTTTGGCTTTCTTGACCTTTAAATTTTAGGGTTTGGTCCCTGTTGTCAAGGGACTTACGTTCTAGTAAAGAACATAGTAATTTCTACCTGTTGTTCTCATTTCAATAGAATAACCCCAAAAGTTGCCATCAACCATTAAAAGTTACAGACTGGCACAGCTTCATAGATACAGCTTTGATTCATTATTTTTATTATATATTTTTAGTATTTAACCACTAATTATCACCTTTCTCTTCTATGTAAAGAGAGACTAGACAATATTATTAATTATTTTGTCCCCTATTGTCCTTTTCTTGATATGGTAAAGTGAAATTTTTATTGAATCAGTATCCTGTCTAGTATTTCCAAAAGATTTAGTGGAAAGAATGCCAGACTAGAATCGCTCGATTTTTATTTGATCCTTAACTAACTCTGTAACATTTATTAAAAATAAAAATTGTATACACTTGAGTCTTGAACAACATGGGTTTGAACTGTGAGGGTCCACTTATAGCTGGATTTTTATTCTCAAGATGTAAAGCCCCAGAGGGTCGACTTTTCACATACATGGGTTCTGCAAGGCCAACTGCAGGAATTGTGCAATATGAACGAAGTTTGGTATATCTGAGATTCCTGGAACCGATTCCCTGCATATATTGAGGGACAACTGTGTATTTAAAGCATACAACATCATGTTTTGATATACATATAACACAGTGAAATAATTAAACACAGTGAAATGATTACTACACTGAAGCAAATTAACACATCCATCTTCTCATATAGTTTTTGGTTTTTCTTTTTGGTGTGGGAGAGCACTTAAAATATATACTTTTAGCAATTTCCAGCATACATTACTAACTCTGTAACCTTGATAAAATAACCTAGTTCTTCTCTGGGCCTTGGTTTTTTAATTGGAAAAAATGGCAATAACAATCCTTAAAACAAGGGCCATGCCCTTGATTCGTGCAGGACCATCTTATGGTGCTTCAGATTCAAGTTATAAGACACGAAAAGACCAAGACTGGTCAGTCACAAAGCCAGGATGCCAGGCATTATTAGCACAATTGTCTCTAGTTTCTGGAGCTGGTGGAAATCTCCTGGACCCAGCAAAACTCATTCCATAATAGGAGACAGACTACAGGGCACTTTCCTTGATTTACAGATCTCCTATACATACAATCAGGGAGAGACTGCAGTGGAGAGGGTGGCATTATTGGTATCTGGGTATCTGACCCCTTTTATTATCTCTCTTAGTGTAGAAATTAGTGTTCTGTGATGCCATGTCATCATAATGTTTGTTTGTTTGTTTATTTATTTATTTATTTATTTATTTCGGAGACAGAGTCTCACTCTGCTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTATAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGCAGCTGGGACTACAGGCATGTGCCACCATGCCCAGGTAATTTTTTGTATTTTTAGTACAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCAATGTTCTTTTACTTAACTTGGGATATTGATAGCCAGGAATCTTTGAACAATAATTTACAGATACTACCTATTCTCCTCCAGCATTGCTGACAGGCACCTGACTCTTGAAAGGGAAACAGCCACAGAACATTTCTCACTCACTGAAAAGCAGTGGCTATAATCTCCTAATTATACTTGCTTCTTATGAAAATAAAACATGGCTGTATATGGCATCTTGGCGTTAGAGACCCCAGGTAGAGGGTTTTCTCCAAGGGTTTCCCTACCACAATATTCAAGCACTTTGATACAAATCTGTGTAGACCAGCATATTAACATCTANNN
benign
70,912
Classify the chromosome 3 variant at position 68988303 affecting gene EOGT (EGF domain specific O-linked N-acetylglucosamine transferase) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Adams-Oliver_syndrome', 'Adams-Oliver_syndrome_4']
TCCATCTGCAACCTTACTTTCCCTATGCCATGTAACCTAACCTGTTCACAGATTCCAGGGATTTGGATGTGGACATCCTTTGGGAGGAGCAGGAAGAGACATTATTCTACCAACAACGCCCTGCTTTAAAACTTCACAATGGCTTTCCCCTACACTGGAATAAAATCCCTCTCCCACCAAGGTCTAGGAGGCTGATACGATCTGTGGCCCCCTGCACCATGCCTGACCTCTTGGATATCGCCCCACCTCTCTCAAGATGCTACAGTCATATTGGTATTCTGTTTCTAGAATACTGAAAGCTCAGTCCACTAGAATACATTTGACTCTGCCCGAGAGGCTCTCTCCCTTGCTAGATTCTTCTCTGATTAGGTCTTTGAATGCCCTCATGTGAGTACAAACCCCCATCCATCCACATCCCCAGTCTCTATGACATCACCCTGGTTCATCCTTCAAAGCACTTATCACTGCCTGACATCACCGTACTTATTGACGTTTTCACTTACTTCTTATCTGTCTCTCACCTCTACGGTGTAAGCTCCATGAGGTCAGGCACCTTCCCCGTCTTTGCTCTACTCTATCTCCAGGGCCTAGAACATGGCCTGACACATAGCAGGTGCTCAATTAACTATTGTAGAATAAATTCTTACTACTGAGAGGCTATCTTCAGGCCATGATGTTGTAGGTAGTGGCCTTGCATGGTGATCTCATTGAGGTTAAATGTAATTTATGAGTTGGTGCTACTGAAATGAGTAAGGATGCTGAAAATGCAGTTTCTAAGACATGGTCATGTAAGAGGACAGAGATTCTTCCAACTAAATCTGCTGCTGATACCACAGGATTAATGGCCTCAACCATCTGTTGCATCAACTATGCAAAAGAAAGTCTTACATTTTTGCTACTTGTCTGTCCGGATGCCCTCTACTGCAGTCAAGGCAAGATTCTGACAGCTTTTTCCATGCTGAGTTGATGCAGATGAAATTTACTATAAGGCAAAGCTAGTTTGTCTATGGGTGGTTTGGTGAATCTCACTAGAAATTCAAATCTAATAAATAAACCGGGCATAGGCCATCAAACTTTTCTCAAAACTAAGTTTTAAACCAAAGCTTTTAACGTAATGTGAAAAAAAAAAAAACACAATTTGCTCTATGAATTGAATATGAAGGCATTAAAAATGCATACCAAAAACTAACCTCATTTTGGTTAAGGATTTTCCGGTATTCTGTGCTCCGTGCAAGAATGGTGACTCGAATTTTTCCATCCTGTAATCAAAATGAAACGGTAAAATAACACTGCATATGCCTGGGTAGATGAATGAACATCTGAACCCAAAATGTGATTTTCACAAAGAGATGAAACTCAACCAGGATACATTAATAGAACTCTTCTTTTTTAGCTTGATTCCTTCACCACTCTCAGGGAATAAAAATGTATCCACTTCAACCACCGAAGGCAAAAACCAGCTCATTACATTGTCTGTTTGGTTGGGTGGGTGAATTTTTTGGCAGGGGTTGTGTATGTTACATGAACATTTGGGGAGGTGAGGGAGATATAACCAATGAAGGGGGAAAGGAGGACAGGAGGAAGCACATTCTTGTAATATCCCTTAGCTTCTCTTTTATAGGTTTTTGACACCTGGTTTCAGATGACTCCAGGTCAGAAAATGTTTTTGGGTTTTGTTTTGGGGCAGTCTTGCTCTGTCGCCCAGGCGGGAGTGCAGTGACATGATCTTGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCCCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCTCGTCCAGCTAATTTTTGTATTTTTTGCAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAAATCCTGGACTCAAGTGATCCACCTGCCTTGGCCTCCCCAGAAAATGTTAACACAAAAACATGGTCTCCTGATTATTTCTGTTTCTGAAAAGGTGGTATCGATTTTTATTAGGGAAGAAAACTCAAGCCCACCTCAGAATCCGCAGTGTATCCATTACCTTAGGTCCTTCTTGTGTGATGTTTAGTCTGTGTAGTACATGCTGGGCAAATGCCCTGAATAGTCCAGTATTTTGACAGCCAGATATCTAAAATAAAAACACTGGTTCATATTACAATGAATACTTCTGTATTATAATTTAAGATACTGTCAACTTATGTATAAATGTTATGTCTGTAAATATGAATGCTAATGGTAGACAATGTGCTTACCAGAGGAGTATTATAGAACAGCCCATACCTCATGCGGGGGAGTAATGAAAAAACAGCTTCTTTAAAACATACCTAAGAACAAAGATACATTAAAAGAAGATGTAATTTGCACCCTTCACACCAAAAATAGCACGTATAATTTTGAGAAATAGATTTTAATTAATCTCCATTTTGCATTGCTTGAATAGCACACTATTTCATTCAAAGAGAACAGAATTCATATTTTTGGAAAGATTATAGAAAAAACTTTTCAAAGGCTGCATGATTAACAACACTGAGGATTCTAATTATAAAAGAAATTCAGAAATTCAGAAATCAGTGGTAATGGCTAATAGGAACTCATAATAAATGTTTATTTTATGAGTGAGTCATCTGCACTCAAGAAATATTCACAGACATTTCAGGAAAATTTCCAGTACCCTTTTGGAATCATAAGTTTTCAAATGTATAACGTCATAATCAGTAAATGCATTCCATGTGTCGGAGAATAGGTCACCATATCCGTAAGAACTCTGAAAGTAGAAACAAAACAAGGTTTTAGGGCAATAAAAGGATATAACATGACTTTTCAAAGATGCAACAAAATACCTGAATTTGCCTGTGTTAAAAACTAACAATCCTACGCAAGTTCATAAAATCCATACAAGCAAAATGGATCTTCATCTTGGGCCAGAGCAAATGCCTAATTTGATGAAATATCATCAGAAATAATTATCACAATTATACTCTTAGCCATTAATAGTGTTTCATTTTTCTACCTTAACTTCTTTTATTCTCACATCTTTGTAGTTCAGGGCTTTTTCCTGTGAACATCTTATCCAAATTATAGATACACACAACACACACTATGCCACCGTTTACACACACTCTTATGCTCAGTGTGCAAAAACCATCAGGGTGAATGAAAAATCTTTGGAAAAAAATTTCAGAGCAAGAAAATGGGTTCAAAGTTTTAACACTGGCTGGGTGCGGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCTTATAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCGGGGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGGTTTAACATTAAAAATATAGGCTGGTCACAGTGGCTCATGCTTGTAATTCCAGCGCTTTGGGAGGCAAAGTGGGAGGATCACTTGAGCCTTGAAGTTTAAGGCTGCAGTGAGCTATGATCATGCCATATACTCCAGCCTGGGCAACAGAGCAAGACCTTGTCTCTAATAAAATAAAATAAAATAAAAATATATAACATATGTAATTCTATGAAATATCCCCCCACCCATTGACTAGTGAATAAAAAGTGGTAATTTCCCATTAATATTAATGGTGTCAATAACAACTTTATATAATAATAATAGCATCTTACATACTTCCTATGTTCCAGGCAGTTTTTTTGGGCACTTGATATTATTAATGTACATTAAGCCACCCACAAGCCTAATGAGTTGATAATATCATTTTCTCTATTTTGCAGATGAGGAAACTGAGACACAATTTTAAGTCATTTGCCTACATTGCGAAGCAGCTGAGTTATAGAGCTGGTATTCAACCCAGCCTGTGCTGCCACTTCCATCTGACAGCTGCCTTTCAGCAGGAATTAGTTCTTTCCAGTATAATTACCACATGCTT
TCCATCTGCAACCTTACTTTCCCTATGCCATGTAACCTAACCTGTTCACAGATTCCAGGGATTTGGATGTGGACATCCTTTGGGAGGAGCAGGAAGAGACATTATTCTACCAACAACGCCCTGCTTTAAAACTTCACAATGGCTTTCCCCTACACTGGAATAAAATCCCTCTCCCACCAAGGTCTAGGAGGCTGATACGATCTGTGGCCCCCTGCACCATGCCTGACCTCTTGGATATCGCCCCACCTCTCTCAAGATGCTACAGTCATATTGGTATTCTGTTTCTAGAATACTGAAAGCTCAGTCCACTAGAATACATTTGACTCTGCCCGAGAGGCTCTCTCCCTTGCTAGATTCTTCTCTGATTAGGTCTTTGAATGCCCTCATGTGAGTACAAACCCCCATCCATCCACATCCCCAGTCTCTATGACATCACCCTGGTTCATCCTTCAAAGCACTTATCACTGCCTGACATCACCGTACTTATTGACGTTTTCACTTACTTCTTATCTGTCTCTCACCTCTACGGTGTAAGCTCCATGAGGTCAGGCACCTTCCCCGTCTTTGCTCTACTCTATCTCCAGGGCCTAGAACATGGCCTGACACATAGCAGGTGCTCAATTAACTATTGTAGAATAAATTCTTACTACTGAGAGGCTATCTTCAGGCCATGATGTTGTAGGTAGTGGCCTTGCATGGTGATCTCATTGAGGTTAAATGTAATTTATGAGTTGGTGCTACTGAAATGAGTAAGGATGCTGAAAATGCAGTTTCTAAGACATGGTCATGTAAGAGGACAGAGATTCTTCCAACTAAATCTGCTGCTGATACCACAGGATTAATGGCCTCAACCATCTGTTGCATCAACTATGCAAAAGAAAGTCTTACATTTTTGCTACTTGTCTGTCCGGATGCCCTCTACTGCAGTCAAGGCAAGATTCTGACAGCTTTTTCCATGCTGAGTTGATGCAGATGAAATTTACTATAAGGCAAAGCTAGTTTGTCTATGGGTGGTTTGGTGAATCTCACTAGAAATTCAAATCTAATAAATAAACCGGGCATAGGCCATCAAACTTTTCTCAAAACTAAGTTTTAAACCAAAGCTTTTAACGTAATGTGAAAAAAAAAAAAACACAATTTGCTCTATGAATTGAATATGAAGGCATTAAAAATGCATACCAAAAACTAACCTCATTTTGGTTAAGGATTTTCCGGTATTCTGTGCTCCGTGCAAGAATGGTGACTCGAATTTTTCCATCCTGTAATCAAAATGAAACGGTAAAATAACACTGCATATGCCTGGGTAGATGAATGAACATCTGAACCCAAAATGTGATTTTCACAAAGAGATGAAACTCAACCAGGATACATTAATAGAACTCTTCTTTTTTAGCTTGATTCCTTCACCACTCTCAGGGAATAAAAATGTATCCACTTCAACCACCGAAGGCAAAAACCAGCTCATTACATTGTCTGTTTGGTTGGGTGGGTGAATTTTTTGGCAGGGGTTGTGTATGTTACATGAACATTTGGGGAGGTGAGGGAGATATAACCAATGAAGGGGGAAAGGAGGACAGGAGGAAGCACATTCTTGTAATATCCCTTAGCTTCTCTTTTATAGGTTTTTGACACCTGGTTTCAGATGACTCCAGGTCAGAAAATGTTTTTGGGTTTTGTTTTGGGGCAGTCTTGCTCTGTCGCCCAGGCGGGAGTGCAGTGACATGATCTTGGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCCCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCTCGTCCAGCTAATTTTTGTATTTTTTGCAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAAATCCTGGACTCAAGTGATCCACCTGCCTTGGCCTCCCCAGAAAATGTTAACACAAAAACATGGTCTCCTGATTATTTCTGTTTCTGAAAAGGTGGTATCGATTTTTATTAGGGAAGAAAACTCAAGCCCACCTCAGAATCCGCAGTGTATCCATTACCTTAGGTCCTCTTGTGTGATGTTTAGTCTGTGTAGTACATGCTGGGCAAATGCCCTGAATAGTCCAGTATTTTGACAGCCAGATATCTAAAATAAAAACACTGGTTCATATTACAATGAATACTTCTGTATTATAATTTAAGATACTGTCAACTTATGTATAAATGTTATGTCTGTAAATATGAATGCTAATGGTAGACAATGTGCTTACCAGAGGAGTATTATAGAACAGCCCATACCTCATGCGGGGGAGTAATGAAAAAACAGCTTCTTTAAAACATACCTAAGAACAAAGATACATTAAAAGAAGATGTAATTTGCACCCTTCACACCAAAAATAGCACGTATAATTTTGAGAAATAGATTTTAATTAATCTCCATTTTGCATTGCTTGAATAGCACACTATTTCATTCAAAGAGAACAGAATTCATATTTTTGGAAAGATTATAGAAAAAACTTTTCAAAGGCTGCATGATTAACAACACTGAGGATTCTAATTATAAAAGAAATTCAGAAATTCAGAAATCAGTGGTAATGGCTAATAGGAACTCATAATAAATGTTTATTTTATGAGTGAGTCATCTGCACTCAAGAAATATTCACAGACATTTCAGGAAAATTTCCAGTACCCTTTTGGAATCATAAGTTTTCAAATGTATAACGTCATAATCAGTAAATGCATTCCATGTGTCGGAGAATAGGTCACCATATCCGTAAGAACTCTGAAAGTAGAAACAAAACAAGGTTTTAGGGCAATAAAAGGATATAACATGACTTTTCAAAGATGCAACAAAATACCTGAATTTGCCTGTGTTAAAAACTAACAATCCTACGCAAGTTCATAAAATCCATACAAGCAAAATGGATCTTCATCTTGGGCCAGAGCAAATGCCTAATTTGATGAAATATCATCAGAAATAATTATCACAATTATACTCTTAGCCATTAATAGTGTTTCATTTTTCTACCTTAACTTCTTTTATTCTCACATCTTTGTAGTTCAGGGCTTTTTCCTGTGAACATCTTATCCAAATTATAGATACACACAACACACACTATGCCACCGTTTACACACACTCTTATGCTCAGTGTGCAAAAACCATCAGGGTGAATGAAAAATCTTTGGAAAAAAATTTCAGAGCAAGAAAATGGGTTCAAAGTTTTAACACTGGCTGGGTGCGGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACCAATATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCATGTGCTTATAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCGGGGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGGTTTAACATTAAAAATATAGGCTGGTCACAGTGGCTCATGCTTGTAATTCCAGCGCTTTGGGAGGCAAAGTGGGAGGATCACTTGAGCCTTGAAGTTTAAGGCTGCAGTGAGCTATGATCATGCCATATACTCCAGCCTGGGCAACAGAGCAAGACCTTGTCTCTAATAAAATAAAATAAAATAAAAATATATAACATATGTAATTCTATGAAATATCCCCCCACCCATTGACTAGTGAATAAAAAGTGGTAATTTCCCATTAATATTAATGGTGTCAATAACAACTTTATATAATAATAATAGCATCTTACATACTTCCTATGTTCCAGGCAGTTTTTTTGGGCACTTGATATTATTAATGTACATTAAGCCACCCACAAGCCTAATGAGTTGATAATATCATTTTCTCTATTTTGCAGATGAGGAAACTGAGACACAATTTTAAGTCATTTGCCTACATTGCGAAGCAGCTGAGTTATAGAGCTGGTATTCAACCCAGCCTGTGCTGCCACTTCCATCTGACAGCTGCCTTTCAGCAGGAATTAGTTCTTTCCAGTATAATTACCACATGCTTN
pathogenic
70,932
A genetic variant on chromosome 3, position 69004435, affects the gene EOGT (EGF domain specific O-linked N-acetylglucosamine transferase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
benign
AATAGCCTGTCACACAGCAATAAGCAACTAATACAATTATGCCCTGAGCAACTACCATGTGGAATCAAATATCAGAAAGTACCAGGAATCAAAAAGCCCACTTGAATATAGAAACTACCTCTTGTAAAAGTCTGCTAAGTGACTTGAGACATTGCATTGCAGACTGCAAAATCCCAGATAAATGTGTGGTAGATCATTATTCTGAATGATCTGCAGCCAGGCAGTGAGGCCTCTTTAAGGACAAAAAAAAAAAAGGTTTGCTCAGCATGAATTTCTTTTTTTTTTTGAGACAGGGTCTTGATCCATCGCCCAGGCTGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCGACCTCCTGAGCTCAAGCAGTCCTCCCGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGGGCATGCCATCTCGCCCAGCTAATTTATTTTTATTTTTTATTTTTCTTTTTTAGAGATGAGGTCTCATCATGTTGCTCAGGCTGGTCTTGAACTCCTGGCTTCAAGTAATACTTCTGCCTTGGCCTCCCAAAGTGCTGTGATTATAGGCATGAGCCGCCATTCCTGGCCTTGGTATGGACATTTGACCTTACAAATTAACATTATGTAAGTAACCTATGTGACTATACAGGAGTAGCAGGAGAGTTTCTTTGGGATGATGGAACAATTCTGCATCCTGATTGTGGTGGTCGCCCTCCCCGTCCTCCTCCCCCTCTCTCTCCCTACCTACATACCCGCACCTACACAAGTGATAAAATTTTAATGAGTACAGGTAATTGCTGGTAAAACCTGCACAAGTTAATACTACTGTACCAATGTCAATTTCATGGTTGTGATCATTGTGCCATGGTTATATGAGATATTATCATTAGAGGAAGCTCAGGGAATTAGACAACGTACAAGTTCTCCTTGTAGTATGATATGGTTTGGCTGTGTCTCCACCCAGATCTCATCTTGAATTGTAGCTCCCATCATGGGAGGCACCCGGTGGGAGGTAACTGAATCATGGGGGTGGGTTTTTCCTGCGCTGTTCTCAAGATCTGATAGTTTTATAAAGGGCAGTTCCCTCTGCACACGCTCTCTTGTCTGCTGTCATGTAAGACGTGCCTTTGTTCCTCCTTTGCCTTCTACCATGATTGTGAGGCCTCCCCAGCCATGAGGAACCATGAGTCCATTAAACCTCTTTCCTTTGTAAGTTAGTCAGTCTTGGGTATAATACATACTATTTTTAAACTTCTATGAGTCTAAAATTATTTTAAAATACAAACTTTTTAAATTCAAAAAGCTGGCCAATGATGTTAACAGTCAGAGTAGCATCTACCTTTGGAGAGGGGGATGGGGGTAGAGCCTGGGAGGGAGACTGAGGTGCTGACAATGTTCTATTTTTGGACCTGGGTAAAAGTTACATGGGTGGGTTCACTTTTTCACAATCCAAACTGTACCTTTTTCTGTATGCTTTTACATACTTTAATATATGTGTATTGTTTTTTAAATGGGTTCCCCAAAACACATTTTTATTTTTTAGATTTGAGGTCTCATCATATTGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGTAATACTTCTACCTTGGCCTTCCAAAGTGCTGAGATTATAGGCATGAGCCACCATTCCTGGCCTTGGCATGGACGTTTGACCTCAAAAATTAACATTATGTAAGTAACCTATGTGACTTTGTAAGTGAATAAAACTTGGCAATTGTGAGTTAATAAAAATGGATTTTTAAGCTGATTTTTTTCTTTCATTAGCAAACAGTAAGTACTGTATCTACTATTATAAACACATACTTAATTCAGATGCAACTGAGGGATTCACTCGGTTTCCGTCACTTCCCAGAAGCTCATGCCAAATTATGTACAAATGAAGTAACATTTTCCATTTGAGAGTCTCCATTAATATCTGCAAGTGCCGTAAATAAAGGCAAATATTTCCGAAACAGATACGTTAAAAATATCTTACCATGACTGCAGAGGGCTTTTGCGCTGACCTTCAGACGTCAATGTACGGATGTCAAGTTTACAGTGCCCTCCAATTTCACCACTCTGGAAAAAGTCCTCCTTAAATCTGGTATATAACAAAACATTAAGTTAAGTTCAGAAAACGTCTTCATGACCCAAGCACGTGGGTTGTAACTAAAGTGGATTACCAATTTCCAAACTGAATTTTTTAAAAGAATTTAACTATTTACAATAGAAAATTTCAAGTGTATATGAAAGTAACAGAATCCTATCAGGACCCTAATGTATCCACAACCCAACTTTGCAATGCGATTAACTCATGGCCTGTCTGAGTCATCCATCCCCCCACCCATTCCCCAACCCCTCTGCCATATCATCAAAAACAAATTCAAGATATACCCCTTCAGCAAGGCTTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGAGGTGAGAGGATCACCTGAACTCAGGAGTTTGAGACCCGCCTGGGCAACGTTAGAAGACCCCATCTCTTCAAAAATTAAAAAATTAGCCAAGCCTGGCGGTGCGCTTCTGTATCCCAGCTACTTGAGAGGCTCAAGTGGGAGGATCACTTGGGTTTGGGAGGTCACAGCTGCACTGAGCCATGATTACACCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATCCCTGGATCTGAAAATATTTCAGAATTTATACTAGATGTTAACATTAACCACTAAAGTACCTGTCATGATTTCTCTTGATGTTTCTTAAATCAAGATAGAGATTGGTTGCTCTGCAGTACTGAAGATAACGGGAACACACCAGACTTGAGTCACTCTGAAGGTTGAGCAAAAGAAAAGAATGACTCTGAGTATTAACACAGCAAAGACTCATCCGGACTTGCTAGACACACTGACAGCACGGATACCCTCACATTCAAACCACACAACATGACAAGGAAAGCTCTCCAAAGACTGCATCTGCTGAAGGATATTTTCTCCTTCCCAGCAGACCCTGGCCAAGCATACTTTTGCCAGTTTCCCACTTTTAAGTTACCATGGAAAACTCCCCAACGATCTGTCACCTCAAATTTTAAAGCCAAGAGCTGTATATGTGGCTCAGTTCAGTCCCCTTTAAAAGAAAAAAAAAGTACCCAGATCCAGTACTACTACCCCCACAGCTATATGAAAAAGCAGCTTCCAAAAGCCAAAAGAAACAAGGAAAAATGCACATGTAAGAGACATTAAAAGCAGGGAGGGAAGTTTGCCAGTTTTAATAAGAGGTGCTTTCTGCAAACCGTAAAGCTTGTGGGAGCCTCTGTCTCAACAGCAACATGAGGGCAATATTTTCTAAATAATTGAAGAAAGGAGTCGAAGAGTCAGCTACCAGAGCCTGATTCTATTTCAACCAATCTGGGTTATGCTCAGAACTTCAAAAACTTTTATCTGCTCTGGGTTTTATTTATAGATTTAAATGCCATTTTAATTGTTTTTCCCAAAACTCCCAATGAACACAAAGTCTCAATCTTGACCTGCATGGTGTTTTGGAGTCTGTAGTTGGTAAAATATTGCAATGGACTGAATGTCCGTGTCTCTGCCAAATTCATATGTTGAAATTCTAACCCCCAATGTGATGATATTGTTTAGAAGCTACCCAGTCTATGGTATTTTGTTATAACAGCCCAAACAACTAAGACAAGGATCATACTCTGCTAGCACAAAGCAAATCAAGGTAAATCTTAATCAAAAGAACATTCTACAAGCCACCTTGAAAGAGGAGTGCAAGATAGGGGTTGTCATTATTATCTTGCCCTTTCCATGTGAACAGCTAGACTTGAGCCAAATGTGCAAGACAGAACAGAACTCTGTTAAAGACACCCTGCGGCCGTGCAGTTTAATGGCATGCCTCACATCCTGAGGCCTCATTCACCTTGCTAGAATGCTCAAAGCTCTATTACGTGACACCCTCCAATAGCTCTATAAAGTATATACTCAGTTTTTGAATGTGAGTAAATTAAAAAATTTTTTTAGTTCTCCAGTGTGGTTGGAGATCGGAGACCCCTGAGATGTCAGAGACTCAGGGTTC
AATAGCCTGTCACACAGCAATAAGCAACTAATACAATTATGCCCTGAGCAACTACCATGTGGAATCAAATATCAGAAAGTACCAGGAATCAAAAAGCCCACTTGAATATAGAAACTACCTCTTGTAAAAGTCTGCTAAGTGACTTGAGACATTGCATTGCAGACTGCAAAATCCCAGATAAATGTGTGGTAGATCATTATTCTGAATGATCTGCAGCCAGGCAGTGAGGCCTCTTTAAGGACAAAAAAAAAAAAGGTTTGCTCAGCATGAATTTCTTTTTTTTTTTGAGACAGGGTCTTGATCCATCGCCCAGGCTGGAGTGCAGTGGTGCAATCATAGCTCACTGCAGCCTCGACCTCCTGAGCTCAAGCAGTCCTCCCGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGGGCATGCCATCTCGCCCAGCTAATTTATTTTTATTTTTTATTTTTCTTTTTTAGAGATGAGGTCTCATCATGTTGCTCAGGCTGGTCTTGAACTCCTGGCTTCAAGTAATACTTCTGCCTTGGCCTCCCAAAGTGCTGTGATTATAGGCATGAGCCGCCATTCCTGGCCTTGGTATGGACATTTGACCTTACAAATTAACATTATGTAAGTAACCTATGTGACTATACAGGAGTAGCAGGAGAGTTTCTTTGGGATGATGGAACAATTCTGCATCCTGATTGTGGTGGTCGCCCTCCCCGTCCTCCTCCCCCTCTCTCTCCCTACCTACATACCCGCACCTACACAAGTGATAAAATTTTAATGAGTACAGGTAATTGCTGGTAAAACCTGCACAAGTTAATACTACTGTACCAATGTCAATTTCATGGTTGTGATCATTGTGCCATGGTTATATGAGATATTATCATTAGAGGAAGCTCAGGGAATTAGACAACGTACAAGTTCTCCTTGTAGTATGATATGGTTTGGCTGTGTCTCCACCCAGATCTCATCTTGAATTGTAGCTCCCATCATGGGAGGCACCCGGTGGGAGGTAACTGAATCATGGGGGTGGGTTTTTCCTGCGCTGTTCTCAAGATCTGATAGTTTTATAAAGGGCAGTTCCCTCTGCACACGCTCTCTTGTCTGCTGTCATGTAAGACGTGCCTTTGTTCCTCCTTTGCCTTCTACCATGATTGTGAGGCCTCCCCAGCCATGAGGAACCATGAGTCCATTAAACCTCTTTCCTTTGTAAGTTAGTCAGTCTTGGGTATAATACATACTATTTTTAAACTTCTATGAGTCTAAAATTATTTTAAAATACAAACTTTTTAAATTCAAAAAGCTGGCCAATGATGTTAACAGTCAGAGTAGCATCTACCTTTGGAGAGGGGGATGGGGGTAGAGCCTGGGAGGGAGACTGAGGTGCTGACAATGTTCTATTTTTGGACCTGGGTAAAAGTTACATGGGTGGGTTCACTTTTTCACAATCCAAACTGTACCTTTTTCTGTATGCTTTTACATACTTTAATATATGTGTATTGTTTTTTAAATGGGTTCCCCAAAACACATTTTTATTTTTTAGATTTGAGGTCTCATCATATTGCCCAGGCTGGCCTTGAACTCCTGGGCTCAAGTAATACTTCTACCTTGGCCTTCCAAAGTGCTGAGATTATAGGCATGAGCCACCATTCCTGGCCTTGGCATGGACGTTTGACCTCAAAAATTAACATTATGTAAGTAACCTATGTGACTTTGTAAGTGAATAAAACTTGGCAATTGTGAGTTAATAAAAATGGATTTTTAAGCTGATTTTTTTCTTTCATTAGCAAACAGTAAGTACTGTATCTACTATTATAAACACATACTTAATTCAGATGCAACTGAGGGATTCACTCGGTTTCCGTCACTTCCCAGAAGCTCATGCCAAATTATGTACAAATGAAGTAACATTTTCCATTTGAGAGTCTCCATTAATATCTGCAAGTGCCGTAAATAAAGGCAAATATTTCCGAAACAGATACGTTAAAAATATCTTACCATGACTGCAGAGGGCTTTTGCGCTGACCTTCAGACGTCAATGTACGGATGTCAAGTAAACAGTGCCCTCCAATTTCACCACTCTGGAAAAAGTCCTCCTTAAATCTGGTATATAACAAAACATTAAGTTAAGTTCAGAAAACGTCTTCATGACCCAAGCACGTGGGTTGTAACTAAAGTGGATTACCAATTTCCAAACTGAATTTTTTAAAAGAATTTAACTATTTACAATAGAAAATTTCAAGTGTATATGAAAGTAACAGAATCCTATCAGGACCCTAATGTATCCACAACCCAACTTTGCAATGCGATTAACTCATGGCCTGTCTGAGTCATCCATCCCCCCACCCATTCCCCAACCCCTCTGCCATATCATCAAAAACAAATTCAAGATATACCCCTTCAGCAAGGCTTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGAGGTGAGAGGATCACCTGAACTCAGGAGTTTGAGACCCGCCTGGGCAACGTTAGAAGACCCCATCTCTTCAAAAATTAAAAAATTAGCCAAGCCTGGCGGTGCGCTTCTGTATCCCAGCTACTTGAGAGGCTCAAGTGGGAGGATCACTTGGGTTTGGGAGGTCACAGCTGCACTGAGCCATGATTACACCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAATCCCTGGATCTGAAAATATTTCAGAATTTATACTAGATGTTAACATTAACCACTAAAGTACCTGTCATGATTTCTCTTGATGTTTCTTAAATCAAGATAGAGATTGGTTGCTCTGCAGTACTGAAGATAACGGGAACACACCAGACTTGAGTCACTCTGAAGGTTGAGCAAAAGAAAAGAATGACTCTGAGTATTAACACAGCAAAGACTCATCCGGACTTGCTAGACACACTGACAGCACGGATACCCTCACATTCAAACCACACAACATGACAAGGAAAGCTCTCCAAAGACTGCATCTGCTGAAGGATATTTTCTCCTTCCCAGCAGACCCTGGCCAAGCATACTTTTGCCAGTTTCCCACTTTTAAGTTACCATGGAAAACTCCCCAACGATCTGTCACCTCAAATTTTAAAGCCAAGAGCTGTATATGTGGCTCAGTTCAGTCCCCTTTAAAAGAAAAAAAAAGTACCCAGATCCAGTACTACTACCCCCACAGCTATATGAAAAAGCAGCTTCCAAAAGCCAAAAGAAACAAGGAAAAATGCACATGTAAGAGACATTAAAAGCAGGGAGGGAAGTTTGCCAGTTTTAATAAGAGGTGCTTTCTGCAAACCGTAAAGCTTGTGGGAGCCTCTGTCTCAACAGCAACATGAGGGCAATATTTTCTAAATAATTGAAGAAAGGAGTCGAAGAGTCAGCTACCAGAGCCTGATTCTATTTCAACCAATCTGGGTTATGCTCAGAACTTCAAAAACTTTTATCTGCTCTGGGTTTTATTTATAGATTTAAATGCCATTTTAATTGTTTTTCCCAAAACTCCCAATGAACACAAAGTCTCAATCTTGACCTGCATGGTGTTTTGGAGTCTGTAGTTGGTAAAATATTGCAATGGACTGAATGTCCGTGTCTCTGCCAAATTCATATGTTGAAATTCTAACCCCCAATGTGATGATATTGTTTAGAAGCTACCCAGTCTATGGTATTTTGTTATAACAGCCCAAACAACTAAGACAAGGATCATACTCTGCTAGCACAAAGCAAATCAAGGTAAATCTTAATCAAAAGAACATTCTACAAGCCACCTTGAAAGAGGAGTGCAAGATAGGGGTTGTCATTATTATCTTGCCCTTTCCATGTGAACAGCTAGACTTGAGCCAAATGTGCAAGACAGAACAGAACTCTGTTAAAGACACCCTGCGGCCGTGCAGTTTAATGGCATGCCTCACATCCTGAGGCCTCATTCACCTTGCTAGAATGCTCAAAGCTCTATTACGTGACACCCTCCAATAGCTCTATAAAGTATATACTCAGTTTTTGAATGTGAGTAAATTAAAAAATTTTTTTAGTTCTCCAGTGTGGTTGGAGATCGGAGACCCCTGAGATGTCAGAGACTCAGGGTTC
benign
70,948
Gene EOGT (EGF domain specific O-linked N-acetylglucosamine transferase) variant at chromosome position 69009765 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Adams-Oliver_syndrome_4']
TCCTTAGGCTGACAGAGCACATGCATCTCCTCCAGCCTCTCTCTGGCATATCCAAAGTCAGCTTGTTTCCAAAATATGTCCTCAGCTGACTCAAGAGTGTCCGTCCTATTTGCAAATAAAAATATTCTGTGTTTTTTTCTTTTTACTTTTTTGGACCTTGAATTTTCATTCTAAAGGTTAAAATGCTAGAGGTTCCTTATTACTTTAATTTTGTTACAGTATATTATCATAGTTTTTCCAAAACTACGCCTCACTACATGAAGTTACGAAACTAAGTTATTCACAGAATTATTCCTTTATCATAAAATACATAACAGACATGTATGAAGTTATCACCTGAAACTGAAGCCAATGATGCATTCTTAATTACTATATTTTCTTTACCTCATTAACATTGCATGTATTGGAAGTACTAATTATACTTAATTCTCCCAGGAAGAATCAAGAAGAAACCATCCATTTATCTTCTTACTATACACTGGGGGAAAAAATTATCTATGGTCCTGGCTGTTTCTCCCTCTGGCAGAGGAAATGACAGATATTCCTATCCCAGTATGAAATAGTCAAGTTGAATTCATGACTGTGCAAGCAAATTAATATCTAAATGAATTACTATCTAAAACCAAAAGAATCTAGCTGGAAATTAGGGCATCAACATACACTGTATAGAAAGAGGAAGACTTGAAGAGGGTATTCCATATGGAAACTTACCATCCCATGTCGACATAGCTGCAAACTGGGTAACCAAACCTGAACTCTGGTTTGCAGGATTTCTCATAACCCCAGCAGTACTTTAGCTTCTCTAGGTGTTTCTAGAACATAAAACTTACATTGATTTCCCTTCTTCTGACATTTAGAGAAGACTCTTAGATTTTTCCATTAAGAAAACAAATCATTATAGAGCATTCACATTTACATTTATAATACGTATTCTTATAACAATAAATTTAAAACTTACAGTTAATTCTAAAAAGAGCAGTCTCAAGGTTCTTAACAATCCTCCTTACTCATCACCCCCACCATATCGGTCCCCTAACCGAAAGTCTGGGCTTTACCTAGACGCTCAAAGACCACTTGAATTTGAATTTCTTGAAGTAGCTTAAGAAACCACCTTTCTCAGTGAGCAAGCGGATTCTAAAATCAGTCCCTAAAAGACATATAAACTGGAATTTGTGCTACCAAAGGAATCACAGCTAAACTGAATCAATCAGCAACTTCACTTAGCAATCAAGATCAGCAGAGACCCCACAACACATGGACAACTCTGCCACCCTTGGGAACCACCCAGCTGCTGCTGGCCAAGGAGTTGAGAATGCTCTTCTGCAAGGCCCCAGGAGCAATGCTGGTCTGATTCCCAAGTCTGCTTTTCCATATGCTTCCTGTGCCAGCACCATGGGAAAGGAAGTGTCTCACAATGCCCAGCTTTGATCTCTGGGGCCCTGTGAGATGTCTTAATGGGCTCCTATTTGAGGCCTTTCCAACTCCTCTAAAACAGAAAGAAAGCCACAGTAACAGGCTTAATTATGTGGAGACAGAGGCTGAGGTGTTATTACTGAAATTAAGTGCTAACCGATCCTCTCATGTGCCGTTTAAGAAAGAAGAGGTGTGAAATTCTTTAGTTACTTTTAACAAGATGTTCTTTCCTGCATAAAATCTAATTGCTTCTTTACAGAGTTTACAAATAGTATTGGCTACTTATTTGTTTTAGAAGTGATTTAGATTTTAAATTTCTCTCTTATGAATGGGACATAATTTTAAGCAGTTTAGTCACTTAGAAGTATTATATGAAACAATGATTAACTTATACAGTGACAACCGAAAATTAGAATTCTGCCTTCAGTTTCAGGTTATAAAGCAGAACCTGTAAGCCAGCTGAAATTGCATCCTCATAAAAATAAGGAGAAAAGAAATAATACCTACCTTATATGGACAAAGAGAGTCTTTCCTACAGACAGTGGCAATATGCCTATTGTTGTGCAAAAAGAAGGGAATGTGCTCCTCTGGCAAGCGGATGCTGGCATAGTTATACAGAGGTTCGCCTGGAATGCTGTGAGTATTAGGAGGAGCTTCATTCTGACCACTCAGTGAGACTTCATGAAGTAAGACTCCAAAGACAAACAACATTAACATAGCAACCTGCAAACCTAGAGATCAAAATGAAGACAACTTTGTTAACAAATTTCCTTTAAAAGCCAAAACAACAACAACAACAACAACAAAAAAAAAAAAAAAACAAAGGGTCAAGGGCTAAGTATAATTACAAAGCACTTTGCTATCCCACTGAATAATGATCCTTTATTCAATTTTTTTTGAGCACTTGCTTGGTGCCAGGCACCACGTTAGCAAATGGGTATACAGAGGTGAACAAAACAAGAAAGAGCCTTGCTCTCATGGTGCCTTTAAACCTACTACAACTGTCATAAACAAGCAATCAAATAAACAACTTCAGCTGATGACTGGGCCTGTGAATCAAACCAACTAGGGGCCAGCAAACTTTTCCTGTAAAGGAGAAGCAGTAAATATTTTTGGCTTTGCCAGACATAAGATCTCTGTGGCAACTACACAACAATGCCTCTGTCCAAAAAAGTAGCCATGGTCTATTATAAAAGAATGGATGAGGCTGTGTTCCAATAAAACTTTTTAACTTACAAAAATTATGGAAGGGCTTGATAGGATCCAGTTTAGTGATACCTGAAACTAAATAAAGTAATATGATAGACAACATAGCATGGTGAACATTTAAAGCTTAACCACCTGGATTTGAATCGCAAATCTGCAGCTTCCCAGCTGTAAGACCTGGAACAAGTTACTTAACCTTTCTGCACCTAAGCTTTCCCATCTGTAAAATGGAAATAATAATAAACCTTCATCATAGAGCTGTCATGAGTTAAATGAGTTAGTTATTGGTAAAGTGTTTCGAAAACTATCTGGCACATGCTAAATGCTATGGAAATGTTTATTAAATAAAAGTTTAAAGCCATGTGGGGCAGAGAAGGGGCCTAAATAACATTAAAGCTGAGATCTGAATGATGAGGAGGGGAAAAGTATCTGTGAGAGAGCAAAGGGAGTGGGATGGCTCTGAGCAAGTGTGTGTCTGCTGAATAAAAAATTATAATCATAATCAAGGTATGAGCACAGACAATGTTCCAGGAGCGCTTCTGTACTCAGGATACAGCAATGAAGGTGCAGTCACGAACTAAACTCATTGCCCTTGTGAAGCTTACATGCTAGTAGGTATAATAATCAGCTATAATAGCTAAGACTTAGAAACTCCAGGACACTAAGCAGTCTGCCTCAAAGACTGTGCCCTTAAGCTCTCCCATCATGCCTTTACATTGTGAACAGTGATAATGGTCAGAAACCTCACTGCATTTCTAATTCACCCAGTAAGTGTTAAATCTCTTGGACCAGATTTCTCCTATATATCCCAGACAATGATCCTGCCATTCTCAGGTCACTTTAGTGGGATCTTTGTTCTTTTTTTTTTTTTAAGTGCTCTTTCCACTGGATGACAGAGTCTTAATACACACTGGATGTTCATCAGCTAGGACTGCTGTTTCCTGGGTCATACCGGAAAACCCAACTTTCGAAATCAGTCTTCATTGATTATGGGCTGTGAAGATGGAACCTTTAGAAACAGACTGCAGGCCTGTAATAGTAGCACTTTGGGAGGCCAAGACTGGCAGATTGCTTGAGTCCCTGAGTTCGAGACCAGCTTGGGCAACGTGATGAAACCCGGTCTCTGCTAAGAATACAAAAAATCAGCTGTAGTCCCAGCTGAAGTGGGAGGATCACTTTAGCCTGGGAAGTCAAGGATGCAGTGAGTCGTGATCTCGCCACTGCACTCCAGCCTGGGTAATGCGAGGGAGACTCTGTCTCAAAAAAAAAAAAAAACAAAGAAAGAAAGAAGAAAAGGAAATTGACTGCTATGTTCCATCAAACCTCAAGTTCCAAGGCCATGGAATTCTAAGTGAACAGTGGGGACACCAAAAAGGAATCCTTTTTCCCCCATTTTCCCCCCTTGGAGTAGTTAAGTATTGTGGTTTTTCACTTTGGCGGCCCTCAAGAGTATGGTGTTATCTGCTGTAAATCTGAT
TCCTTAGGCTGACAGAGCACATGCATCTCCTCCAGCCTCTCTCTGGCATATCCAAAGTCAGCTTGTTTCCAAAATATGTCCTCAGCTGACTCAAGAGTGTCCGTCCTATTTGCAAATAAAAATATTCTGTGTTTTTTTCTTTTTACTTTTTTGGACCTTGAATTTTCATTCTAAAGGTTAAAATGCTAGAGGTTCCTTATTACTTTAATTTTGTTACAGTATATTATCATAGTTTTTCCAAAACTACGCCTCACTACATGAAGTTACGAAACTAAGTTATTCACAGAATTATTCCTTTATCATAAAATACATAACAGACATGTATGAAGTTATCACCTGAAACTGAAGCCAATGATGCATTCTTAATTACTATATTTTCTTTACCTCATTAACATTGCATGTATTGGAAGTACTAATTATACTTAATTCTCCCAGGAAGAATCAAGAAGAAACCATCCATTTATCTTCTTACTATACACTGGGGGAAAAAATTATCTATGGTCCTGGCTGTTTCTCCCTCTGGCAGAGGAAATGACAGATATTCCTATCCCAGTATGAAATAGTCAAGTTGAATTCATGACTGTGCAAGCAAATTAATATCTAAATGAATTACTATCTAAAACCAAAAGAATCTAGCTGGAAATTAGGGCATCAACATACACTGTATAGAAAGAGGAAGACTTGAAGAGGGTATTCCATATGGAAACTTACCATCCCATGTCGACATAGCTGCAAACTGGGTAACCAAACCTGAACTCTGGTTTGCAGGATTTCTCATAACCCCAGCAGTACTTTAGCTTCTCTAGGTGTTTCTAGAACATAAAACTTACATTGATTTCCCTTCTTCTGACATTTAGAGAAGACTCTTAGATTTTTCCATTAAGAAAACAAATCATTATAGAGCATTCACATTTACATTTATAATACGTATTCTTATAACAATAAATTTAAAACTTACAGTTAATTCTAAAAAGAGCAGTCTCAAGGTTCTTAACAATCCTCCTTACTCATCACCCCCACCATATCGGTCCCCTAACCGAAAGTCTGGGCTTTACCTAGACGCTCAAAGACCACTTGAATTTGAATTTCTTGAAGTAGCTTAAGAAACCACCTTTCTCAGTGAGCAAGCGGATTCTAAAATCAGTCCCTAAAAGACATATAAACTGGAATTTGTGCTACCAAAGGAATCACAGCTAAACTGAATCAATCAGCAACTTCACTTAGCAATCAAGATCAGCAGAGACCCCACAACACATGGACAACTCTGCCACCCTTGGGAACCACCCAGCTGCTGCTGGCCAAGGAGTTGAGAATGCTCTTCTGCAAGGCCCCAGGAGCAATGCTGGTCTGATTCCCAAGTCTGCTTTTCCATATGCTTCCTGTGCCAGCACCATGGGAAAGGAAGTGTCTCACAATGCCCAGCTTTGATCTCTGGGGCCCTGTGAGATGTCTTAATGGGCTCCTATTTGAGGCCTTTCCAACTCCTCTAAAACAGAAAGAAAGCCACAGTAACAGGCTTAATTATGTGGAGACAGAGGCTGAGGTGTTATTACTGAAATTAAGTGCTAACCGATCCTCTCATGTGCCGTTTAAGAAAGAAGAGGTGTGAAATTCTTTAGTTACTTTTAACAAGATGTTCTTTCCTGCATAAAATCTAATTGCTTCTTTACAGAGTTTACAAATAGTATTGGCTACTTATTTGTTTTAGAAGTGATTTAGATTTTAAATTTCTCTCTTATGAATGGGACATAATTTTAAGCAGTTTAGTCACTTAGAAGTATTATATGAAACAATGATTAACTTATACAGTGACAACCGAAAATTAGAATTCTGCCTTCAGTTTCAGGTTATAAAGCAGAACCTGTAAGCCAGCTGAAATTGCATCCTCATAAAAATAAGGAGAAAAGAAATAATACCTACCTTATATGGACAAAGAGAGTCTTTCCTACAGACAGTGGCAATATGCCTATTGTTGTGCAAAAAGAAGGGAATGTGCTCCTCTGGCAAGCGGATGCTGGCATAGTTATACAGAGGTTCGCCTGGAATGCTGTATTAGGAGGAGCTTCATTCTGACCACTCAGTGAGACTTCATGAAGTAAGACTCCAAAGACAAACAACATTAACATAGCAACCTGCAAACCTAGAGATCAAAATGAAGACAACTTTGTTAACAAATTTCCTTTAAAAGCCAAAACAACAACAACAACAACAACAAAAAAAAAAAAAAAACAAAGGGTCAAGGGCTAAGTATAATTACAAAGCACTTTGCTATCCCACTGAATAATGATCCTTTATTCAATTTTTTTTGAGCACTTGCTTGGTGCCAGGCACCACGTTAGCAAATGGGTATACAGAGGTGAACAAAACAAGAAAGAGCCTTGCTCTCATGGTGCCTTTAAACCTACTACAACTGTCATAAACAAGCAATCAAATAAACAACTTCAGCTGATGACTGGGCCTGTGAATCAAACCAACTAGGGGCCAGCAAACTTTTCCTGTAAAGGAGAAGCAGTAAATATTTTTGGCTTTGCCAGACATAAGATCTCTGTGGCAACTACACAACAATGCCTCTGTCCAAAAAAGTAGCCATGGTCTATTATAAAAGAATGGATGAGGCTGTGTTCCAATAAAACTTTTTAACTTACAAAAATTATGGAAGGGCTTGATAGGATCCAGTTTAGTGATACCTGAAACTAAATAAAGTAATATGATAGACAACATAGCATGGTGAACATTTAAAGCTTAACCACCTGGATTTGAATCGCAAATCTGCAGCTTCCCAGCTGTAAGACCTGGAACAAGTTACTTAACCTTTCTGCACCTAAGCTTTCCCATCTGTAAAATGGAAATAATAATAAACCTTCATCATAGAGCTGTCATGAGTTAAATGAGTTAGTTATTGGTAAAGTGTTTCGAAAACTATCTGGCACATGCTAAATGCTATGGAAATGTTTATTAAATAAAAGTTTAAAGCCATGTGGGGCAGAGAAGGGGCCTAAATAACATTAAAGCTGAGATCTGAATGATGAGGAGGGGAAAAGTATCTGTGAGAGAGCAAAGGGAGTGGGATGGCTCTGAGCAAGTGTGTGTCTGCTGAATAAAAAATTATAATCATAATCAAGGTATGAGCACAGACAATGTTCCAGGAGCGCTTCTGTACTCAGGATACAGCAATGAAGGTGCAGTCACGAACTAAACTCATTGCCCTTGTGAAGCTTACATGCTAGTAGGTATAATAATCAGCTATAATAGCTAAGACTTAGAAACTCCAGGACACTAAGCAGTCTGCCTCAAAGACTGTGCCCTTAAGCTCTCCCATCATGCCTTTACATTGTGAACAGTGATAATGGTCAGAAACCTCACTGCATTTCTAATTCACCCAGTAAGTGTTAAATCTCTTGGACCAGATTTCTCCTATATATCCCAGACAATGATCCTGCCATTCTCAGGTCACTTTAGTGGGATCTTTGTTCTTTTTTTTTTTTTAAGTGCTCTTTCCACTGGATGACAGAGTCTTAATACACACTGGATGTTCATCAGCTAGGACTGCTGTTTCCTGGGTCATACCGGAAAACCCAACTTTCGAAATCAGTCTTCATTGATTATGGGCTGTGAAGATGGAACCTTTAGAAACAGACTGCAGGCCTGTAATAGTAGCACTTTGGGAGGCCAAGACTGGCAGATTGCTTGAGTCCCTGAGTTCGAGACCAGCTTGGGCAACGTGATGAAACCCGGTCTCTGCTAAGAATACAAAAAATCAGCTGTAGTCCCAGCTGAAGTGGGAGGATCACTTTAGCCTGGGAAGTCAAGGATGCAGTGAGTCGTGATCTCGCCACTGCACTCCAGCCTGGGTAATGCGAGGGAGACTCTGTCTCAAAAAAAAAAAAAAACAAAGAAAGAAAGAAGAAAAGGAAATTGACTGCTATGTTCCATCAAACCTCAAGTTCCAAGGCCATGGAATTCTAAGTGAACAGTGGGGACACCAAAAAGGAATCCTTTTTCCCCCATTTTCCCCCCTTGGAGTAGTTAAGTATTGTGGTTTTTCACTTTGGCGGCCCTCAAGAGTATGGTGTTATCTGCTGTAAATCTGATNNNN
pathogenic
70,953
Regarding the variant at chromosome 3 and position 69941241, affecting gene MITF (melanocyte inducing transcription factor): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Melanoma,_cutaneous_malignant,_susceptibility_to,_8', 'Tietz_syndrome', 'Waardenburg_syndrome_type_2A']
CTTGGCAGCCTGAGGATGAACACTTTGTAATGAGAATCTATATTTGTGGTGGATCACACCTTCCTGAAAACTTAAGCATTTTTTTCCCCCATTGTTTTTTTTTTTTTTATAGAGAAAGCTAGGAACATTGCCATTTTCCTCATAGTATCTCATGATTAAATAATGACAAGGGAGAATAAACTAAAATGTGTTTTTCCCCTAAGTTGCTGCAAAGATTAAAAACTTCTTAAAGTACATAAATTTTAATAAGATATGAAATATGTACTTTAACATAATCCATATATGTTATACAAATTTGTAGGTTAGCAATTTTTGTATTAGTAAAACCAAGATGTGTGTGTATAATCTAGATATTGTTTCCTAAATGGAATCTCATGGAACATACATTTTGAAACTATATTAATTTAATAACATATAATGGATGCTTTCCCAAATAACTAAAGTTTCTTCTACTACATCCTATTTAATGGATATATAAATTATGCTATATCTATTTATATATCTATGCATGTATATAGATATAGGAGAGAATGATAAGCAACAAAATTTGTTGCCTTTCTATGTTTCCTGTCATCAACTTGCATTATTTTTGTCATAAGAGAAAAAAATATTTTAAAAATGCTATTACATCAAGCCCACTAATTTTATTTTTCTAAGAACAAAATTAAAAGTGGCAAGGAAATGTTGTTCATAAGTTTCCTAGCCTATTTGCATATTTACCAACTCAATTAGAAAATCATCTCTTAAAGACAAACAAAACAAATAAAAGTGGTGTCAATAGAAATGGAACCTAACAAACAGTGGATAGTAGTTATTCAAAACTGGCCAATTATTCTTTTTAGGGGTCATTAATAAGACTCCTTTTTTGAGTGTTTACTATGTTCCTGGTACTTTGAATGCTCTGTACAGTTTGTCCTGAAATCATACAAGAATCCATAAGACAGTAAATATTATGAACCCCCATTTTATAGATTGACAAACTGAGGCTTTAAAAGATTGGAGGCTTTGCCCTAATCTAGAAAGCAGGAGAACGGGGATTCCAACCCAAACCTATGAATTTTGGATTCTCTCCTCTTTAATGGAAGTGGCAAGAGACAGAAGAGCATCCCTGTTAGTTCTGTGATTTCATTGTGTAACTATGAAGTCCTGTTAAGACCCAAGCACAGACACACCAACTAGCTCAAATACATAAGGTGTTTATGAAGAAATGTTTTCACAGGCTTGTCTTTGCAACTGCTGCAATGCACATGTAATCACTGTTGTTTATTATCATAACTTATGTTTTGGTACTTTAGAAATAAAATTGATCTAGTGGGAATGTCAGCTCCACGACTGTAATGATAACCTCATCCTGGTGTACTCCCTGGGGAGTACCAAGCACACTGGTAGCTGTACAAGGAGAAACTTATTTTACAAGTCACTGTAAGATGGGTGCAGGGATAGCCAGTGGCCTGGGAGCCACAGTGTCCACACTTCCCTGTGGAACACTACAGACGGTGTTTTCCTTCTGCAAGAAAAGGGTAGGGGCCATCGTCTTTAGGGAAAAAAGGAAGTAGAATGACAGCTGTCATTCAAGATGAAGTGCTGTGGTACATCTCTCCTGTTTAGGGCAGGCAGTTTAGCATAGTTGTGAAAGCATGGGTTAAATTGTGGCTCCAGTCTTTCTTCAGTGTGTGACTTTGGGCAAGCTGCTTCTCATTTATTTCACCTGGAAAATTGCTATAATAATAGTACCTGCCATGATACGGTTTTCGTTAGGGCAAAATCTTAGCCTATGAAAATCCTCGAACCCAATGCTTGGCAACTCATAATCACTCATTAAATGCTGGCTACAAGTATTATCCTCATCACCTATTCGTGTTAATGGTCTTCAATACTATTTTATACTTCAATACTATTTTAGTGGAAAGAGGACAGTTACTTCTTAGAATCTAACTAAAGACCATTATTGCTTTGGGTAAAAAAAGACCATGAGTCTCTTTTTAGGTTGTGTTGCATAGTTTATTTATTTTTGTCTCTCTTCTCTTACCCTTTTTCCTACAGATGGATGATGTAATCGATGACATCATTAGCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGGTATTGATAACCTTTTTTTAAGTAGAAAATCTTGAGGTGTTTCCAGGGTTCTTTTCTTTTTTCTTAAACTTTTATTTTATCTTTGTAACTGGTTCACTGATTAAATGTATTAATAGTAAAATGGAGAATTATCTCAGGATCACAAATAAGTGACTTTAACATCAGAAATTAAGAAGTTTTTATGAGTTTATGAATAATCCCATGATAAAACTCTACATTCCCTGGAGTCCACGAGCAGTTTTGATAGGGCATTAGCCCTTCCAATTCCCTTGACATCTAATGCCCAACCCAGTACACTGCAGCCAAGGGAACCATTGTGAACTGCACTATTCACAGTGGTGCTCTAGTTGGCCTGAAAAAGTTGGTTCAGTTTTTCAAGAAGGTTTTCTCATATTCTTAGGTGATAGAGGGACATTGGAGTTACCCTTCTCCAACAGCAAAATCTATTCCAACCTCAGTTCATAAACAAGTGGTCCTATTTGCTATTGTATGTTACTTGTTTTTCTCTGTAATTTAGAGCCTTGCCTATATTGTTTATTTTCCTTCATTCCTTACATTTTAGTCTTATGTTACTGTTTTACCAAAGTCTTATTGCACATCTTATTTAGTCCTTGCAGTTATTCTGTGAGTCAAGTTCGGATGGTATCATTGCCCTCAGTTTTAAACTGTAACTAGGTTAGACAGTCTTACGCAAGATTACATAGCTTGGGTGTATCAGAGCCAGGCCTGCTTGGTAGGTCTTTGAATGCCTTCTCCAATCCTTTTCTGTTTCCTCTGAGAGCAATGCTATGAGACTATCATATTCTTAATAACTAGTGTTTTAAAGACCAATATTTATTGAGAGGAAAGGGAAAAGGGGAGTTGTTTAATGGGTATGGAGCTTCGGATTTGCAAGATGAAAAATTCTGGAGATCTGTTTGATAACAATGTGAACATACATAACACTACTGAACCATACACTTAAAATTGGTTAAGACGGCAAATTTTATCCTATGTGTTTTTTACCATAATGAAATTTTTTAAAGGTATGACTAACTTCCAGTAGTAAATTCCCTTGGCCAAAGGACAAAATAACACTTACTTAGGTACACCAGAATCCTCAGAAAATTGAGTCTTATAGTTAGCATTTTCTTTTCTTTTTTTTTTAAATCCATCTTGATCCAATTCTTCAAGTTCACTTCCTTGAACTCATGTGGGGTGAGGACTTCCCTTGAAACCTCAAGCTTCTTTTATGATATTTAGAGTTTGTCTACTTTCTACCCATTTAAACCCACCCCCTGATTTTGGAAGAACCAGGTGTTCTACTATTGTGATGAAAGTTTCCATGCCATACTCTCCGAACCTCTTGGAATCCTTGGTTGGCTTCTGTGGAACCTTCCTGCTTACAAGTTGTTGCATCCTATGAGGCCAAACTACACTTATCTAGCACTCAGAATCCTAGGACAAACATGAGTAAAACACTTGGGGGAGCATGCCCTGGGGAATTTATAAATATACCCAAAGACATGGGTATATTTACATTTCACTGCTCTAGCAGCATTAATTAGCAATGGCCCAGTCATCTCAAAAGAACTTTGCTGTGAGAGTGGTCATTTTGCTAGTGGTGTCAAATGGGTCCCTGGGCACACTCAAGTGAACTGTAGAATTGACATGATTCTGTAAAATCATTGACTTTTTTTGTAATGGCAAAGACCTTTGATATCATTTGGTCTAACCTAGTACTCAATGCATTAGCCTCCTCTTTTTTTTTTTTTTTTTTTTTGATACAGGGTTTCATTTTGTTGCCCAGGCTGATCTTGAGCTCCTGGGCTCAAGTGATCTTCCTCCCTCAAGTAGCTGGGATTATAGGTGTGTGCCACTACACCTGGCCTGACCTTCTCTTGCATCTCGTTAGTATTCTCCACAAAAAAATCAAGGCATCCAGCTTCTTGGAAGCCTCCAAAAAAGGATCTGTACT
CTTGGCAGCCTGAGGATGAACACTTTGTAATGAGAATCTATATTTGTGGTGGATCACACCTTCCTGAAAACTTAAGCATTTTTTTCCCCCATTGTTTTTTTTTTTTTTATAGAGAAAGCTAGGAACATTGCCATTTTCCTCATAGTATCTCATGATTAAATAATGACAAGGGAGAATAAACTAAAATGTGTTTTTCCCCTAAGTTGCTGCAAAGATTAAAAACTTCTTAAAGTACATAAATTTTAATAAGATATGAAATATGTACTTTAACATAATCCATATATGTTATACAAATTTGTAGGTTAGCAATTTTTGTATTAGTAAAACCAAGATGTGTGTGTATAATCTAGATATTGTTTCCTAAATGGAATCTCATGGAACATACATTTTGAAACTATATTAATTTAATAACATATAATGGATGCTTTCCCAAATAACTAAAGTTTCTTCTACTACATCCTATTTAATGGATATATAAATTATGCTATATCTATTTATATATCTATGCATGTATATAGATATAGGAGAGAATGATAAGCAACAAAATTTGTTGCCTTTCTATGTTTCCTGTCATCAACTTGCATTATTTTTGTCATAAGAGAAAAAAATATTTTAAAAATGCTATTACATCAAGCCCACTAATTTTATTTTTCTAAGAACAAAATTAAAAGTGGCAAGGAAATGTTGTTCATAAGTTTCCTAGCCTATTTGCATATTTACCAACTCAATTAGAAAATCATCTCTTAAAGACAAACAAAACAAATAAAAGTGGTGTCAATAGAAATGGAACCTAACAAACAGTGGATAGTAGTTATTCAAAACTGGCCAATTATTCTTTTTAGGGGTCATTAATAAGACTCCTTTTTTGAGTGTTTACTATGTTCCTGGTACTTTGAATGCTCTGTACAGTTTGTCCTGAAATCATACAAGAATCCATAAGACAGTAAATATTATGAACCCCCATTTTATAGATTGACAAACTGAGGCTTTAAAAGATTGGAGGCTTTGCCCTAATCTAGAAAGCAGGAGAACGGGGATTCCAACCCAAACCTATGAATTTTGGATTCTCTCCTCTTTAATGGAAGTGGCAAGAGACAGAAGAGCATCCCTGTTAGTTCTGTGATTTCATTGTGTAACTATGAAGTCCTGTTAAGACCCAAGCACAGACACACCAACTAGCTCAAATACATAAGGTGTTTATGAAGAAATGTTTTCACAGGCTTGTCTTTGCAACTGCTGCAATGCACATGTAATCACTGTTGTTTATTATCATAACTTATGTTTTGGTACTTTAGAAATAAAATTGATCTAGTGGGAATGTCAGCTCCACGACTGTAATGATAACCTCATCCTGGTGTACTCCCTGGGGAGTACCAAGCACACTGGTAGCTGTACAAGGAGAAACTTATTTTACAAGTCACTGTAAGATGGGTGCAGGGATAGCCAGTGGCCTGGGAGCCACAGTGTCCACACTTCCCTGTGGAACACTACAGACGGTGTTTTCCTTCTGCAAGAAAAGGGTAGGGGCCATCGTCTTTAGGGAAAAAAGGAAGTAGAATGACAGCTGTCATTCAAGATGAAGTGCTGTGGTACATCTCTCCTGTTTAGGGCAGGCAGTTTAGCATAGTTGTGAAAGCATGGGTTAAATTGTGGCTCCAGTCTTTCTTCAGTGTGTGACTTTGGGCAAGCTGCTTCTCATTTATTTCACCTGGAAAATTGCTATAATAATAGTACCTGCCATGATACGGTTTTCGTTAGGGCAAAATCTTAGCCTATGAAAATCCTCGAACCCAATGCTTGGCAACTCATAATCACTCATTAAATGCTGGCTACAAGTATTATCCTCATCACCTATTCGTGTTAATGGTCTTCAATACTATTTTATACTTCAATACTATTTTAGTGGAAAGAGGACAGTTACTTCTTAGAATCTAACTAAAGACCATTATTGCTTTGGGTAAAAAAAGACCATGAGTCTCTTTTTAGGTTGTGTTGCATAGTTTATTTATTTTTGTCTCTCTTCTCTTACCCTTTTTCCTACAGATGGATATGTAATCGATGACATCATTAGCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGGTATTGATAACCTTTTTTTAAGTAGAAAATCTTGAGGTGTTTCCAGGGTTCTTTTCTTTTTTCTTAAACTTTTATTTTATCTTTGTAACTGGTTCACTGATTAAATGTATTAATAGTAAAATGGAGAATTATCTCAGGATCACAAATAAGTGACTTTAACATCAGAAATTAAGAAGTTTTTATGAGTTTATGAATAATCCCATGATAAAACTCTACATTCCCTGGAGTCCACGAGCAGTTTTGATAGGGCATTAGCCCTTCCAATTCCCTTGACATCTAATGCCCAACCCAGTACACTGCAGCCAAGGGAACCATTGTGAACTGCACTATTCACAGTGGTGCTCTAGTTGGCCTGAAAAAGTTGGTTCAGTTTTTCAAGAAGGTTTTCTCATATTCTTAGGTGATAGAGGGACATTGGAGTTACCCTTCTCCAACAGCAAAATCTATTCCAACCTCAGTTCATAAACAAGTGGTCCTATTTGCTATTGTATGTTACTTGTTTTTCTCTGTAATTTAGAGCCTTGCCTATATTGTTTATTTTCCTTCATTCCTTACATTTTAGTCTTATGTTACTGTTTTACCAAAGTCTTATTGCACATCTTATTTAGTCCTTGCAGTTATTCTGTGAGTCAAGTTCGGATGGTATCATTGCCCTCAGTTTTAAACTGTAACTAGGTTAGACAGTCTTACGCAAGATTACATAGCTTGGGTGTATCAGAGCCAGGCCTGCTTGGTAGGTCTTTGAATGCCTTCTCCAATCCTTTTCTGTTTCCTCTGAGAGCAATGCTATGAGACTATCATATTCTTAATAACTAGTGTTTTAAAGACCAATATTTATTGAGAGGAAAGGGAAAAGGGGAGTTGTTTAATGGGTATGGAGCTTCGGATTTGCAAGATGAAAAATTCTGGAGATCTGTTTGATAACAATGTGAACATACATAACACTACTGAACCATACACTTAAAATTGGTTAAGACGGCAAATTTTATCCTATGTGTTTTTTACCATAATGAAATTTTTTAAAGGTATGACTAACTTCCAGTAGTAAATTCCCTTGGCCAAAGGACAAAATAACACTTACTTAGGTACACCAGAATCCTCAGAAAATTGAGTCTTATAGTTAGCATTTTCTTTTCTTTTTTTTTTAAATCCATCTTGATCCAATTCTTCAAGTTCACTTCCTTGAACTCATGTGGGGTGAGGACTTCCCTTGAAACCTCAAGCTTCTTTTATGATATTTAGAGTTTGTCTACTTTCTACCCATTTAAACCCACCCCCTGATTTTGGAAGAACCAGGTGTTCTACTATTGTGATGAAAGTTTCCATGCCATACTCTCCGAACCTCTTGGAATCCTTGGTTGGCTTCTGTGGAACCTTCCTGCTTACAAGTTGTTGCATCCTATGAGGCCAAACTACACTTATCTAGCACTCAGAATCCTAGGACAAACATGAGTAAAACACTTGGGGGAGCATGCCCTGGGGAATTTATAAATATACCCAAAGACATGGGTATATTTACATTTCACTGCTCTAGCAGCATTAATTAGCAATGGCCCAGTCATCTCAAAAGAACTTTGCTGTGAGAGTGGTCATTTTGCTAGTGGTGTCAAATGGGTCCCTGGGCACACTCAAGTGAACTGTAGAATTGACATGATTCTGTAAAATCATTGACTTTTTTTGTAATGGCAAAGACCTTTGATATCATTTGGTCTAACCTAGTACTCAATGCATTAGCCTCCTCTTTTTTTTTTTTTTTTTTTTTGATACAGGGTTTCATTTTGTTGCCCAGGCTGATCTTGAGCTCCTGGGCTCAAGTGATCTTCCTCCCTCAAGTAGCTGGGATTATAGGTGTGTGCCACTACACCTGGCCTGACCTTCTCTTGCATCTCGTTAGTATTCTCCACAAAAAAATCAAGGCATCCAGCTTCTTGGAAGCCTCCAAAAAAGGATCTGTACTN
pathogenic
71,024
Evaluate if the mutation on chromosome 3 at position 69949098 in MITF (melanocyte inducing transcription factor) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Melanoma,_cutaneous_malignant,_susceptibility_to,_8', 'Tietz_syndrome', 'Waardenburg_syndrome_type_2A']
CAACATAGGTCTATCAATGACTTGGAGATGTGTATCAGTTGCTATTATTTATCCCTAACAAATCATCATAATAACACAGTGAGTTTTGCATACAATTTGCCTATGAAAACCATATGTGTGATTTACCTTTCTAGAGCAAGTGGAATAATTTTTCTTTTAGCTTATTGCTTTGAATTTTCAAGTCACATTCTTGGTTTGTTAAAACCTCAACGTTTTCCCAAAATCCAAAATTCTCAAAAGATAGGGGAATAAAGCTTTGGAATCCAAGGAGTTACCAGACATCATGGCAGCTGTATAAGTTTAGTCTTTCTGGTACTTTACAGGGCTGTTTTGAAACATGTGAGTGCCTTTCACTTTGCGTTAAATTGGACAAGAATAAAACTAAACACACACAGAGCAAGGTTGACCCTGAGAAGGTAACCTATTTCAACTAAAACCACTTAGTGAAATGACAGCTAATAATCAAAGTCACTTTTTATCAATTCCTTAGTTAGAGGGCCTTGAAATACCATACAAGGGCATTTTAAATGACCACGATGTCTATTTTTGTGCCTGTGTATGGGGGTATGTGTATTAGGTTTTATGCATATACTATAAACGCTGCTTTCAAAAAGGAGCAAAAGAGGGAGTTGTATTCTGCTGGTCTGTCTGTCCTCCCTGCCTACCCCAATTCTGTTCGAGCCAGTGTCTGATTCACCCATCAAGAAGTATCTTATTCCATGTCCATTGCCTCCCACCCAAATCTCTTTAGCTAGGGGTTTAATTCATAGAGTATATGTTTAGAGGCTATCACAGAAATAGATGCAATGGTTATCAATGAGGGGAAGCACATTCGACTTGTATTTTGTGGTATATTTTCATCTGTATGTTAGTGGTCATTGGAGAGGATGCAAGGTACTCTGTTGAATACAGTTTTTACTAGATACTTCTCAGTCACTAAACACTTTAATCACACCTAAATGCTTTCTGAATGTACTTTTCTCAGATGTAGAATACAATTCCATGTGTAATCAAGAAATGGGAGGGCTAAACGACTTAAAGTCTTACCCAGTAATCATGGTTATAGAAATTGTTTGAATCAATCTAGTAATGGTACGTGTCTGCAGTGGAAGGAGTGAGGTCAGTCAACGATTTCTCCATAGTTACTATTTCAAACTGTATTTCAGGGCATGGGAAGGGAGATCAACTTGGGCCTTTTCTACAAAAACAGGCCTATAAACTGCTGCAACCAGCTAGTTACCAAGAAATGCACATACACAACCAAAGGAGGACTCGCTGCTTTAAAACAGCCCATTCAGAACTAGAGGAAAAACTCTGACGCTAGCTTGGGGAAGGCTAAATATTTCTTTTACTTTTTTTTTTTATTATTATTCTCTTGAAAGTGTAAATTTTTGCTCTCTTTTAAAGTCTGTGGGCTCCCTCTTGTGGCTTTGTGGAAAATTTCAATTTCAAGGAAACGCTTTTTCTCTCTAGCAATAAGGAAATCATTTCCAATTAAAAAAAAAAAAACTTTCATTGCTTTTCCTTGTAAAAGAAAAAGTGAGAAGAAGAGGTGGATACGAGAAGGAAGGAACAAAATTAACTTTAATGGAAAGTCCTATTTGGTGAAAAGGTCATTTTATATACAATCCTGTTTTACAATAATAGCCAACATTTCCTGAACACCCACTGTTTGCTACTAGTTGTACTAGATAATGCATTCACCACATTATTCATTGCCTCCATGCTCAAAATAAACTGACTGGCTAGTTAGAGTAGTCATTTTATGGGTGTGAGACTGTACTTTCCTGCCTCAAAGGGAACTGGTTGAGGAGATCCTGTACCTCTCTTTTAATACCTGTGAATGAAAAAGTAAACATCTCATATTTTCCTATTTTAAAAATGATTTTTTGTATCAAATAATTTTTCTTAAATAAATCCTAGAGTAGGATATAGGTTTTATCTGAAAAAACATGGGAATTGTTCAACAGTTAATTTCTGTTACTGTTTGTCTCTCTCTAGTTGCCTGTCTCGGGAAACTTGATTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCAGCCAACCTTCCCAACATAAAAAGGGAGCTCACAGGTAAACACCTAGTAAATGTGCCTCTTACTGCAGATTTCTGTCCATTTCCTGATAAGACAAAGTTATTGATATAGTGATGTGCAAACTATATCCAACTCATGGACGTAACTTTTATAGGTCTCTGCAGTGGTTAAAACATTATGCAATATTTTAAGACGGAGAATTTATACTTGAAAATTCTGTTTTTTTTCAAGGAGATCCTTGAAAATCTCCTGAGATACTGGGAATCGGGGCCACCATTACTGCATGTCACCAATCACTGTGTGTGTGGTGAAGGTCCCCTTTGTGTTGGGGATAGTAGGCAACTCTTTCAGCTGTAACTGTCTCCACCCTACCTGATATGTATGTTTCTAACAAGCCCCTAGAGGCATTTGCATTTGAGAACCCAGATCTGAATTTTCCTTTGACACACATTCAAGCCCACAATTGGGATAGCATAAGAATATATTTCTCACATCTTCAGATGCCTCCTGTTGTCTTTTGCTGTATTGTGTGCAAAAGATTTATTACACAGAGGGGAAAAAATTATAAAATGGAGCAATGGATATTATTTGTTCTTGAGGCAAGTGTGAAATTACTTATTTCTCTACTTTGCTTAATGCTTTAGGGAAGGCATTTATTTGGTCATTAAAACATGGCGGAAACTATATTAGAACTGGCATTCTACCATGGTGAATTTTATGGCCCTTACCACACCCCTCTTTTTATTATTTGATCCTTGCATCCTGCAGGATTGGATGAACAGACTGAGAATATGGAATATGGATTTGGTACAGAGAATTCCTGTTCCAGTCAAGGATGTCTTAAAAAAATTTTTTTTAGAAAATAAGCAGGAGAAAGATGTTTTTTAAAAACCATGGATTTGAGTGAAAAGAGTAATTAATAAGTAAAAACCATCCAAAACCAAAACACAAGTAGCTACCCTACCAAAAAGGAAAATTACTGCAAGACAACAACAACAACAAAAGCAAGAATCGTCGGGCAGGCACAGTAGCTCACGCCTGTAATCTCAGCACTTTGGGAAGCTGAGGCAGGCAGATTGCTTGAGCTCAGGAGTTCCAGGCTGCAATGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCAAGAGGAATGAGTCCTGTCTCAAAACAAAGCAAAACAAAACAAAACAACAACAACAACAACAACTTAAGAATCATTGAAGTGGAGGGTATGTAAGTCATGCTTCTGTGTGAGGAAAAAAAAACTAGAAAATGATTTGAACTGACCATCACAACTGAAAGAATTCAACTTCTGAGTTATATATATATATATATATATATATATATGCACACACATACACACACACACATAGATATGCATATATATGCATATATACATGGATGTATGCATATAGATATGCATATATACATGGATGTATGCATATAGATATGCATATATACATATATAACACCCATATAATAAATATATATGGTGTGTATATATATATATATATATATGCTTCAGTGGCTATAAGTTATGCTAAAAAGATTTCTATTTTGAGATAAAATTCTAAATTATGGTAGTGTAATGCTTCAGCTATCACTTCTGAAAAGGAAATAACAGAGCTTTCTGGATCCCCAGATTGGTCAAGTAACATGTTTTGTTTTGTTTTTAATTCTGTTTTGTTTTGTTTTGTTCTCTGTAAGGCAAAAAGTAATCTCTTATCCCAGAGATGTCACAAGAGTTGCTATGCAAATAGAGCTTTCCAATTGCAGTTGCCACCAAATGCCTCTATTCCTATTTTGTTTTTATAGACTCAAGCTAGTAAATAGTGGTTCCTAAGTTATTAGATGATTTCATTACAGCAGGTTTTAACAGAATCTGGCACCAACTTCTGAAAAAATGAGTTCATTCTATGAAGTAGTGAACTAGTTAGAAGAGACAGAGATCCAATTTGGCAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCTCTGTGTCTCCTGAGCT
CAACATAGGTCTATCAATGACTTGGAGATGTGTATCAGTTGCTATTATTTATCCCTAACAAATCATCATAATAACACAGTGAGTTTTGCATACAATTTGCCTATGAAAACCATATGTGTGATTTACCTTTCTAGAGCAAGTGGAATAATTTTTCTTTTAGCTTATTGCTTTGAATTTTCAAGTCACATTCTTGGTTTGTTAAAACCTCAACGTTTTCCCAAAATCCAAAATTCTCAAAAGATAGGGGAATAAAGCTTTGGAATCCAAGGAGTTACCAGACATCATGGCAGCTGTATAAGTTTAGTCTTTCTGGTACTTTACAGGGCTGTTTTGAAACATGTGAGTGCCTTTCACTTTGCGTTAAATTGGACAAGAATAAAACTAAACACACACAGAGCAAGGTTGACCCTGAGAAGGTAACCTATTTCAACTAAAACCACTTAGTGAAATGACAGCTAATAATCAAAGTCACTTTTTATCAATTCCTTAGTTAGAGGGCCTTGAAATACCATACAAGGGCATTTTAAATGACCACGATGTCTATTTTTGTGCCTGTGTATGGGGGTATGTGTATTAGGTTTTATGCATATACTATAAACGCTGCTTTCAAAAAGGAGCAAAAGAGGGAGTTGTATTCTGCTGGTCTGTCTGTCCTCCCTGCCTACCCCAATTCTGTTCGAGCCAGTGTCTGATTCACCCATCAAGAAGTATCTTATTCCATGTCCATTGCCTCCCACCCAAATCTCTTTAGCTAGGGGTTTAATTCATAGAGTATATGTTTAGAGGCTATCACAGAAATAGATGCAATGGTTATCAATGAGGGGAAGCACATTCGACTTGTATTTTGTGGTATATTTTCATCTGTATGTTAGTGGTCATTGGAGAGGATGCAAGGTACTCTGTTGAATACAGTTTTTACTAGATACTTCTCAGTCACTAAACACTTTAATCACACCTAAATGCTTTCTGAATGTACTTTTCTCAGATGTAGAATACAATTCCATGTGTAATCAAGAAATGGGAGGGCTAAACGACTTAAAGTCTTACCCAGTAATCATGGTTATAGAAATTGTTTGAATCAATCTAGTAATGGTACGTGTCTGCAGTGGAAGGAGTGAGGTCAGTCAACGATTTCTCCATAGTTACTATTTCAAACTGTATTTCAGGGCATGGGAAGGGAGATCAACTTGGGCCTTTTCTACAAAAACAGGCCTATAAACTGCTGCAACCAGCTAGTTACCAAGAAATGCACATACACAACCAAAGGAGGACTCGCTGCTTTAAAACAGCCCATTCAGAACTAGAGGAAAAACTCTGACGCTAGCTTGGGGAAGGCTAAATATTTCTTTTACTTTTTTTTTTTATTATTATTCTCTTGAAAGTGTAAATTTTTGCTCTCTTTTAAAGTCTGTGGGCTCCCTCTTGTGGCTTTGTGGAAAATTTCAATTTCAAGGAAACGCTTTTTCTCTCTAGCAATAAGGAAATCATTTCCAATTAAAAAAAAAAAAACTTTCATTGCTTTTCCTTGTAAAAGAAAAAGTGAGAAGAAGAGGTGGATACGAGAAGGAAGGAACAAAATTAACTTTAATGGAAAGTCCTATTTGGTGAAAAGGTCATTTTATATACAATCCTGTTTTACAATAATAGCCAACATTTCCTGAACACCCACTGTTTGCTACTAGTTGTACTAGATAATGCATTCACCACATTATTCATTGCCTCCATGCTCAAAATAAACTGACTGGCTAGTTAGAGTAGTCATTTTATGGGTGTGAGACTGTACTTTCCTGCCTCAAAGGGAACTGGTTGAGGAGATCCTGTACCTCTCTTTTAATACCTGTGAATGAAAAAGTAAACATCTCATATTTTCCTATTTTAAAAATGATTTTTTGTATCAAATAATTTTTCTTAAATAAATCCTAGAGTAGGATATAGGTTTTATCTGAAAAAACATGGGAATTGTTCAACAGTTAATTTCTGTTACTGTTTGTCTCTCTCTAGTTGCCTGTCTCGGGAAACTTGATTGATCTTTATGGAAACCAAGGTCTGCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCAGCCAACCTTCCCAACATAAAAAGGGAGCTCACAGGTAAACACCTAGTAAATGTGCCTCTTACTGCAGATTTCTGTCCATTTCCTGATAAGACAAAGTTATTGATATAGTGATGTGCAAACTATATCCAACTCATGGACGTAACTTTTATAGGTCTCTGCAGTGGTTAAAACATTATGCAATATTTTAAGACGGAGAATTTATACTTGAAAATTCTGTTTTTTTTCAAGGAGATCCTTGAAAATCTCCTGAGATACTGGGAATCGGGGCCACCATTACTGCATGTCACCAATCACTGTGTGTGTGGTGAAGGTCCCCTTTGTGTTGGGGATAGTAGGCAACTCTTTCAGCTGTAACTGTCTCCACCCTACCTGATATGTATGTTTCTAACAAGCCCCTAGAGGCATTTGCATTTGAGAACCCAGATCTGAATTTTCCTTTGACACACATTCAAGCCCACAATTGGGATAGCATAAGAATATATTTCTCACATCTTCAGATGCCTCCTGTTGTCTTTTGCTGTATTGTGTGCAAAAGATTTATTACACAGAGGGGAAAAAATTATAAAATGGAGCAATGGATATTATTTGTTCTTGAGGCAAGTGTGAAATTACTTATTTCTCTACTTTGCTTAATGCTTTAGGGAAGGCATTTATTTGGTCATTAAAACATGGCGGAAACTATATTAGAACTGGCATTCTACCATGGTGAATTTTATGGCCCTTACCACACCCCTCTTTTTATTATTTGATCCTTGCATCCTGCAGGATTGGATGAACAGACTGAGAATATGGAATATGGATTTGGTACAGAGAATTCCTGTTCCAGTCAAGGATGTCTTAAAAAAATTTTTTTTAGAAAATAAGCAGGAGAAAGATGTTTTTTAAAAACCATGGATTTGAGTGAAAAGAGTAATTAATAAGTAAAAACCATCCAAAACCAAAACACAAGTAGCTACCCTACCAAAAAGGAAAATTACTGCAAGACAACAACAACAACAAAAGCAAGAATCGTCGGGCAGGCACAGTAGCTCACGCCTGTAATCTCAGCACTTTGGGAAGCTGAGGCAGGCAGATTGCTTGAGCTCAGGAGTTCCAGGCTGCAATGAGCTGTGATCACACCACTGCACTCCAGCCTGGGCAAGAGGAATGAGTCCTGTCTCAAAACAAAGCAAAACAAAACAAAACAACAACAACAACAACAACTTAAGAATCATTGAAGTGGAGGGTATGTAAGTCATGCTTCTGTGTGAGGAAAAAAAAACTAGAAAATGATTTGAACTGACCATCACAACTGAAAGAATTCAACTTCTGAGTTATATATATATATATATATATATATATATGCACACACATACACACACACACATAGATATGCATATATATGCATATATACATGGATGTATGCATATAGATATGCATATATACATGGATGTATGCATATAGATATGCATATATACATATATAACACCCATATAATAAATATATATGGTGTGTATATATATATATATATATATGCTTCAGTGGCTATAAGTTATGCTAAAAAGATTTCTATTTTGAGATAAAATTCTAAATTATGGTAGTGTAATGCTTCAGCTATCACTTCTGAAAAGGAAATAACAGAGCTTTCTGGATCCCCAGATTGGTCAAGTAACATGTTTTGTTTTGTTTTTAATTCTGTTTTGTTTTGTTTTGTTCTCTGTAAGGCAAAAAGTAATCTCTTATCCCAGAGATGTCACAAGAGTTGCTATGCAAATAGAGCTTTCCAATTGCAGTTGCCACCAAATGCCTCTATTCCTATTTTGTTTTTATAGACTCAAGCTAGTAAATAGTGGTTCCTAAGTTATTAGATGATTTCATTACAGCAGGTTTTAACAGAATCTGGCACCAACTTCTGAAAAAATGAGTTCATTCTATGAAGTAGTGAACTAGTTAGAAGAGACAGAGATCCAATTTGGCAGCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCTCTGTGTCTCCTGAGCTN
pathogenic
71,032
Determine if the mutation at chromosome 3, position 69956460 in gene MITF (melanocyte inducing transcription factor) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Coloboma,_osteopetrosis,_microphthalmia,_macrocephaly,_albinism,_and_deafness', 'Melanoma,_cutaneous_malignant,_susceptibility_to,_8', 'Tietz_syndrome', 'Waardenburg_syndrome', 'Waardenburg_syndrome_type_2A']
GACATGGGAGGTAGTGAATCAGTTTCAAAGAGGGTGACCAGAAAGTCTCTTAGGTAAATCTGAGTCTACCTGAGGGAGGTGAGTGCAGTGCTGTTCACATATCTGGAGGTACAGTGTTCCAGGCAGGTGGAACAGCCTTATGAAGTCCTCCAATGGGGCGTGTCTGGCTTGCTTGAGGAATAGCAAGGAGCCAGAGGGGCTAGAGTAATTTTATGATTATTATGTGCTTGGAAAAAAAATAAGAAGAAAGTATCATACTTCAGAGTTTTGGGGAAGGTTAGCTAGTGGATCAAGGACCCCACAATTCCTTCTTCAAAACCATTGACCATCATTTAGGGTTTCTATTTTATACAAGCCTAATGGTAGGACTTCGTATTATATAAAACGGATTTCATCATTGGAATAATCCCTCAGCCAAAACAAACTGCAATTTATATTGGGAAAGCAGGGAATCACATTATTTATCTAGGTGTACAGACTATTAGTGGAACAAAAAGAAGCATATATTCTGGTATTTAGAGTAACTATTAACAACTTTAATCCATTTTGTTAGACTTTAAATTATTTGGAATTTATTTGTTTGACTACATTAATTAGAGACATTTATCATGTCATATGCCTTATTATGTCATCCTCCCCTAAGAACATGATAGTTGACCTTACACTGAGATTTATAAAATAGGAATGCTGTGAAGATTCATGGTACAGCTAAAAATGCTAGACTTCAGTTCTAGGGCTGTGCTATCTAGTACAGTAGCCATTCACCACTGGTGCCTACTCAGACTTGAAATATGGCTGGTCCAAATTGTGACGTAAAACTGAAAGTGTAAAATGCGCCCTGGATTCCAAAAACTTAGAGTGAAGAAAAGAATGTTAAGTACTTAATTTGTAAATGTTTACGTTGATTGCCTGTTAAAATAATAATATTTTGGATATAATGGATTTAAGAAAATGTTAATTTCATGTCTTTCTTTTTACTTTTTAAATAGTACTACTAGAAAATTTAAACTTATATGTAAATTATATTATATTTCTGTTGGGTAGCACTAGGCTAGGGCATGGGTTTTTTGTGTGGCCCATGAGTTAAGAATGTTTTTTACATTTTTAAATGGTTAAAAAAGGCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATAGATCACTTGAGGTCAGGAGCTCGAGACCAACCTGGCCAACACAGTGAAACCCCCTTCTCTACTAAAAGTACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCTCATGACCCAGGAGATGGAGGTCGCAGTGAGCTGAGATCCTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAATAAATAAATAAATGCTAAAAAAAAAATTGTGACATGAAAAGTATATACAACGCAAATTTCAGCATGACAAGTAAATTCTAATGCTTTTCATTGATTTGCCTTGCAAAAAATTGTACTCGTATGTTATATTTTGAATTTTGTCAGTAAAAAATGTGTGGAAATTTGTTTTCCCTCCGCTTAAGTAAATATCTGCATAATATCCTCAATTTTGCTACTTATCCCACAAAGCCAGAAGTACTAACTTCCTGGCTCTTTGCAGAAAGTTTGCTGACTTCTGCTCTAAGGGGTTAGGTTAGAATTTGGGCTTTCACCAGATATTGTTGGATGTCCTCGCCAAGTCCCTAATAACAGTATCTCCAAGGCAATTTCATTATTTGTAACTAAGGATAGTAACTGATTTCAGGGTTGTTATAAGAACAAATGAGAAATCGTCTGTATCTAAGGGCTTTGGAAATGGTAAAGAAATGTAGCTCATTTTTAACTGCAATACCAAGAACATAGTAAAAATAGGGAAAAAGTAGGTTCAGGTTTCCGTTGTCATGACCTGGAGAAGTTAATATGCACATGCCTTTAATGAGATGTGCTAAATGCATACATGGCACTGTTACTAATAGCCTTTCCTGTGCTCTTTTCTTGAAGTTGAACGAAGAAGAAGATTTAACATAAATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCGTGAGTACAATCGCGTGTTAATCTGCATCATATATTTTTCGTACCTGAATGTTTTTTCATACGTTGTAAAAAATGCAGTTGTAAAAACTAAAGTAAAGAAGTCTCCCCTCTCCCTTTGGTTCTATTCCTAAATTCTTCTTACACCTTTCTTTTGGTTAGTCTCATCAAGCTAAAATTTCAAGACAAAAGCATTGAATTGTGCAAAAGGATTGTTGGACACTAGATGTTTTGGTTGTGAGGAGGTGGCTTTCTGAAACCTAAGAATTCTTTGCAAACAAATACTGAGCTTAAAAAAAATTTCCTTTAATGGTTCATGCAGAACAGAACTTTCAATAGTTGTTAAAGCTAGATTTGTTGACTGTTTGCTCTTTGACTTGTACAGTACCTCTAAATAGGCACTGATGAACAGACATTAGAGACTTAAAGTTTAATGATACTCCACAGACAAAAAGGGTCAATTATTTTTATGAAAACTTGCCTACTCTTTGTATGTTTTACCATTGTAGGGGAAAAAAAGTAGTGTTTTAATCCTCTTATTAAGTACAGGTCAGCTAATTTAGATTTCAGCTTTTGGTCTCTCTTTACCCACCCTGTCCCCTTCAGAGATAACAGCTGTAAAGATGATTTTCTCAAGTCTTTCCTACCAGCCTATAGTTACCTGCAACATCAGCAGATAGGACAACAAACACACAGTTTTTATCCATTAGAAATTGGCCCATTTGAAGCAAGGGGCTAGAAAATGTATACATTTTAATGGCCCCCACAGGCATTCTGTGAAATTAGCCTTTGAATATGACCTTTTAGCTACCTAATAAAATGTAAAGATGAAATCAAGTATTATTCATGCCAGGCTTATTAAATTTGCTGTTCACGTTACTGTTAGAGGATTTGTAACAAAATAAAATAAAACCATTACCTATTGTGAGGTGGTTTTGATGAATGTACAAGCACAATTCCATCTTCAATGTTTTGCTTTCCCAGGTTTCAAGGAAAGGCATTTTCAAACCCGAAACATTTCAGATTCTCAGTTCTGCAGCACAAATTTATCCTACTAAAGGGCTGTGACCTTCATTTCCTATAGTCAGTCTTGCATGATAGTTGAAATTGAATTCCCATTTTCCTCTTCTTTATCAGCTTTCACTTTTTAGCATATTCTTTTAAACTGTAGCATGTGAATCTCTTTAGCAACATATTATGAAATTATGGGGCTGCAGTGAAAGCCTCTATTTGCATATCTTCTTTCCCCGTTGTATTAGAATACTTGCGGGTTTATAATCTGAACTGATAATGATCTTTAATTGTAGGCATTGTTTTAAGACAAAACAGACTATAATCTATATGGTGGTTTCCCACACCAGGTTTCTAGAATGTGCCTTGGGGCTGCTATAGAGACACAGTCTTACAGACTGGGGTCTCAGCCCGGTACCTTTTCTCCCACCAGAGCAAGTCTGCATTTGTTGATTTTATATAATGGAGATCTATATTCACTATTCTGTGAAAAAAGAGTCCCTCTTATTACCAAACAAAAAAAAAGTTTGAAAACCCTTTCTTAAACTCAGAAGCATAATTGATTGATTGGATCTCACAAGGAAGCAAAACCCAAGATAATTGGTTGAAACAATCACTTCTTTTAAACTGAGTGACCCTTCAAATATCCCAATTCTGATTTCTCTTCTTGCTGGCCTATGTGAAGCATCATTTATTTTAACTACATTTCTCTCTGGCTGCTAAAGTTACTTCTCTTACTTTGATCTTAGCTCTGAATATTAAGTCTCTGCGCTCACTGTGGGTATCTCAGGACATTCCCCTGGGTTGCCATCTTTGGTGTTCAGACCCCAGGGATCAACTCCAGGGAATTCTCTGGGGGCTGGAACTGTCCCTCTTATGGGAGAACTTCTGTGTTGTTCTTCATGTAACCCAGATGAGGATCAATTACTTGGTGACTTGTTTAATGACCCTCCATTCACCGGTTCCACC
GACATGGGAGGTAGTGAATCAGTTTCAAAGAGGGTGACCAGAAAGTCTCTTAGGTAAATCTGAGTCTACCTGAGGGAGGTGAGTGCAGTGCTGTTCACATATCTGGAGGTACAGTGTTCCAGGCAGGTGGAACAGCCTTATGAAGTCCTCCAATGGGGCGTGTCTGGCTTGCTTGAGGAATAGCAAGGAGCCAGAGGGGCTAGAGTAATTTTATGATTATTATGTGCTTGGAAAAAAAATAAGAAGAAAGTATCATACTTCAGAGTTTTGGGGAAGGTTAGCTAGTGGATCAAGGACCCCACAATTCCTTCTTCAAAACCATTGACCATCATTTAGGGTTTCTATTTTATACAAGCCTAATGGTAGGACTTCGTATTATATAAAACGGATTTCATCATTGGAATAATCCCTCAGCCAAAACAAACTGCAATTTATATTGGGAAAGCAGGGAATCACATTATTTATCTAGGTGTACAGACTATTAGTGGAACAAAAAGAAGCATATATTCTGGTATTTAGAGTAACTATTAACAACTTTAATCCATTTTGTTAGACTTTAAATTATTTGGAATTTATTTGTTTGACTACATTAATTAGAGACATTTATCATGTCATATGCCTTATTATGTCATCCTCCCCTAAGAACATGATAGTTGACCTTACACTGAGATTTATAAAATAGGAATGCTGTGAAGATTCATGGTACAGCTAAAAATGCTAGACTTCAGTTCTAGGGCTGTGCTATCTAGTACAGTAGCCATTCACCACTGGTGCCTACTCAGACTTGAAATATGGCTGGTCCAAATTGTGACGTAAAACTGAAAGTGTAAAATGCGCCCTGGATTCCAAAAACTTAGAGTGAAGAAAAGAATGTTAAGTACTTAATTTGTAAATGTTTACGTTGATTGCCTGTTAAAATAATAATATTTTGGATATAATGGATTTAAGAAAATGTTAATTTCATGTCTTTCTTTTTACTTTTTAAATAGTACTACTAGAAAATTTAAACTTATATGTAAATTATATTATATTTCTGTTGGGTAGCACTAGGCTAGGGCATGGGTTTTTTGTGTGGCCCATGAGTTAAGAATGTTTTTTACATTTTTAAATGGTTAAAAAAGGCCGGACGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATAGATCACTTGAGGTCAGGAGCTCGAGACCAACCTGGCCAACACAGTGAAACCCCCTTCTCTACTAAAAGTACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCACAAGAATCTCATGACCCAGGAGATGGAGGTCGCAGTGAGCTGAGATCCTGCCACCGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAATAAATAAATAAATGCTAAAAAAAAAATTGTGACATGAAAAGTATATACAACGCAAATTTCAGCATGACAAGTAAATTCTAATGCTTTTCATTGATTTGCCTTGCAAAAAATTGTACTCGTATGTTATATTTTGAATTTTGTCAGTAAAAAATGTGTGGAAATTTGTTTTCCCTCCGCTTAAGTAAATATCTGCATAATATCCTCAATTTTGCTACTTATCCCACAAAGCCAGAAGTACTAACTTCCTGGCTCTTTGCAGAAAGTTTGCTGACTTCTGCTCTAAGGGGTTAGGTTAGAATTTGGGCTTTCACCAGATATTGTTGGATGTCCTCGCCAAGTCCCTAATAACAGTATCTCCAAGGCAATTTCATTATTTGTAACTAAGGATAGTAACTGATTTCAGGGTTGTTATAAGAACAAATGAGAAATCGTCTGTATCTAAGGGCTTTGGAAATGGTAAAGAAATGTAGCTCATTTTTAACTGCAATACCAAGAACATAGTAAAAATAGGGAAAAAGTAGGTTCAGGTTTCCGTTGTCATGACCTGGAGAAGTTAATATGCACATGCCTTTAATGAGATGTGCTAAATGCATACATGGCACTGTTACTAATAGCCTTTCCTGTGCTCTTTTCTTGAAGTTGAACGAAGAAGATTTAACATAAATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCGTGAGTACAATCGCGTGTTAATCTGCATCATATATTTTTCGTACCTGAATGTTTTTTCATACGTTGTAAAAAATGCAGTTGTAAAAACTAAAGTAAAGAAGTCTCCCCTCTCCCTTTGGTTCTATTCCTAAATTCTTCTTACACCTTTCTTTTGGTTAGTCTCATCAAGCTAAAATTTCAAGACAAAAGCATTGAATTGTGCAAAAGGATTGTTGGACACTAGATGTTTTGGTTGTGAGGAGGTGGCTTTCTGAAACCTAAGAATTCTTTGCAAACAAATACTGAGCTTAAAAAAAATTTCCTTTAATGGTTCATGCAGAACAGAACTTTCAATAGTTGTTAAAGCTAGATTTGTTGACTGTTTGCTCTTTGACTTGTACAGTACCTCTAAATAGGCACTGATGAACAGACATTAGAGACTTAAAGTTTAATGATACTCCACAGACAAAAAGGGTCAATTATTTTTATGAAAACTTGCCTACTCTTTGTATGTTTTACCATTGTAGGGGAAAAAAAGTAGTGTTTTAATCCTCTTATTAAGTACAGGTCAGCTAATTTAGATTTCAGCTTTTGGTCTCTCTTTACCCACCCTGTCCCCTTCAGAGATAACAGCTGTAAAGATGATTTTCTCAAGTCTTTCCTACCAGCCTATAGTTACCTGCAACATCAGCAGATAGGACAACAAACACACAGTTTTTATCCATTAGAAATTGGCCCATTTGAAGCAAGGGGCTAGAAAATGTATACATTTTAATGGCCCCCACAGGCATTCTGTGAAATTAGCCTTTGAATATGACCTTTTAGCTACCTAATAAAATGTAAAGATGAAATCAAGTATTATTCATGCCAGGCTTATTAAATTTGCTGTTCACGTTACTGTTAGAGGATTTGTAACAAAATAAAATAAAACCATTACCTATTGTGAGGTGGTTTTGATGAATGTACAAGCACAATTCCATCTTCAATGTTTTGCTTTCCCAGGTTTCAAGGAAAGGCATTTTCAAACCCGAAACATTTCAGATTCTCAGTTCTGCAGCACAAATTTATCCTACTAAAGGGCTGTGACCTTCATTTCCTATAGTCAGTCTTGCATGATAGTTGAAATTGAATTCCCATTTTCCTCTTCTTTATCAGCTTTCACTTTTTAGCATATTCTTTTAAACTGTAGCATGTGAATCTCTTTAGCAACATATTATGAAATTATGGGGCTGCAGTGAAAGCCTCTATTTGCATATCTTCTTTCCCCGTTGTATTAGAATACTTGCGGGTTTATAATCTGAACTGATAATGATCTTTAATTGTAGGCATTGTTTTAAGACAAAACAGACTATAATCTATATGGTGGTTTCCCACACCAGGTTTCTAGAATGTGCCTTGGGGCTGCTATAGAGACACAGTCTTACAGACTGGGGTCTCAGCCCGGTACCTTTTCTCCCACCAGAGCAAGTCTGCATTTGTTGATTTTATATAATGGAGATCTATATTCACTATTCTGTGAAAAAAGAGTCCCTCTTATTACCAAACAAAAAAAAAGTTTGAAAACCCTTTCTTAAACTCAGAAGCATAATTGATTGATTGGATCTCACAAGGAAGCAAAACCCAAGATAATTGGTTGAAACAATCACTTCTTTTAAACTGAGTGACCCTTCAAATATCCCAATTCTGATTTCTCTTCTTGCTGGCCTATGTGAAGCATCATTTATTTTAACTACATTTCTCTCTGGCTGCTAAAGTTACTTCTCTTACTTTGATCTTAGCTCTGAATATTAAGTCTCTGCGCTCACTGTGGGTATCTCAGGACATTCCCCTGGGTTGCCATCTTTGGTGTTCAGACCCCAGGGATCAACTCCAGGGAATTCTCTGGGGGCTGGAACTGTCCCTCTTATGGGAGAACTTCTGTGTTGTTCTTCATGTAACCCAGATGAGGATCAATTACTTGGTGACTTGTTTAATGACCCTCCATTCACCGGTTCCACCNNN
pathogenic
71,046
Mutation at chromosome 3, position 69967400, within MITF (melanocyte inducing transcription factor): benign or pathogenic? If pathogenic, indicate the disease(s).
benign
AAATTTTTTTTCATGCTTTATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTACAAATGCCTCCAAAGTATTGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTTGCGTCAGAGAAATGTCTGTCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAGTTTAATTGAAAGAATGTAAAGCAACCAAAAAGAAAAAAAAAAAGAAAGAAAGAGGAAAAGAAATCCATACTAACCCTTTTCCATTTTATAAATGTATTGATTCATTGGTACTGCCTTAAAGATACAGTACCCCTCTAGCTTTGTTTAGTCTTTATACTGCAAACTATTTAAAGAAATATGTATTCTGTAAAAGAAAAAAAAAATGCGGCCTTTTCATGAGGATCGTCTGGTTAGAAAACATAACTGATACCAACCGAAACTGAAGGGAGTTAGACCAAGGCTCTGAAATATAAAGTCTAATCTTGCTCTCTTTTATTCTGTGCTGTTACAGTTTTCTTCATCAATGAGTGTGATCCAGTTTTTCATAAGATATTTTATTTTGAAATGGAAATTAATGTCCTCTCAAAGTAAAATATTGAGGAGCACTGAAAGTATGTTTTACTTTTTTTTTATTTTATTTTTGCTTTTGATAAGAAAACCGAACTGGGCATATTTCTAATTGGCTTTACTATTTTTATTTTTAAATTATGTTTTACTGTTCATTTGATTTGTACAGATTCTTTATTATCATTGTTCTTTTCAATATATTTGTATTAATTTGTAAGAATATGCATCTTAAAATGGCAAGTTTTCCATATTTTTACAACTCACTGGTGGTTTTCCGCATTCTTTGTACACCCATGAAAGAAAACTTTTATGCAAGGTCTTGCATTTAAAAGACAGCTTTGCGAATATTTTGTAAATTACAGTCTCACTCAGAACTGTTTTTGGACACATTTAAGGTGTAGTATTAATAGGTTAAAACCAGGCTTTCTAGAAAGAATAAACTTACATATTTATTTTTAGGACATGAAAATAGCAATATTCTTGGAGATTGATAACCATAGCATTAATACGCCCATTATGGTCATTTAAATTGGGGTTTATTTCAGCAAACTTGTTGAATTTATTTTTAAGAAAGAAATACTGTATTGGGAAGTTACTGTTACTTGATAACAATGTTTTAACAAGAAGCAATGTTATAAAGTTAGTTTCAGTGCATTATCTACTTGTGTAGTCCTATGCAATAACAGTAGTGTTACATGTATCAAGCCTAGATGTTTTATACAGATGCCATATAGTGTTATGAGCCAGGCTGTTGAATGGAATTTCTCAGTAGCAGCCTACAACTGAATAGCAAGTGGCATAAAGCATATCCATTCAGAATGAAGTGCCTTAAATATAGCAGTAGTCTTTTTTGGACTAGCACTGACTGAACTGTAATGTAGGGGAAAGTTTCATGATGGTATCTATAGTCAAGACGAACATGTAGCATGGTGCCTATGTAGACAATATAAGAGCTTCCAATTTTCCTTCAGATATTTTTAATATTAAATATATTTTAGTGACAGAGTGCCAACTTCTTTCATCAGGAAACCTTATTCAGGAGGGTTTTTAAAAAGTGTTTAAATGTCAAATGTGAATTGGTGATGGGTGATGGAGGGTTCAGAGAGGAGTGATCGTCAGATGTGTGAATGGACGGTTTAGGTGAAAATAATCAACTGCATAGTTCCCATGCACGCTGGGCAATGAGAATCCTTGGAAACATTGGTGATGCTATCAGTTTTATAGCTTTATTTCTTAAGGGGGTAGGGAAAATTAGTTCCCATTCTTTCAACCCCCTTAACTGTATAGCTCTTTTCCTAGAATAGTGACGCAAATCTGCATGAACAGCTAATTGTACCATAGTGTTCATTGATACAATCATAGCATTGTCTATTTTTCTCTTCATATTTATATGGGGGGGAGGGCGCTGGATGCAAAAGTTGAAGATCGTGATGCTATGATGTTAGTTTTCCTTAGCTGATTTTGAGGGTTTTTAAAAATAAAGCAAGGTTGACTAACCTACGGCCACGGGAACAGGACCATGGTTAAGCAACCATATAGAAAGCTTTGTTGAAAGAAAGTATGGCATCTTGTACCACTGCCCTGACTGTCACAACTCCTAACCTTGCCATTGCCTGCCTCCCCCTCCCCTTCTCCTTAAGAGACAATTTCTGCAGGTGGCAGGTGAGCAAGCCCAGGAGAATGCTGCAATCTTGGGGGTGGTTTTATTTATTTCTTTTTTGCCAAATAGAGTGTGGATTCATTTCAGGGGCTAGCTAAGCCAAGAGGCAGTGGTTTGGGCTTGTTGTTTGTAACAAGAAAATGATCCACACCACTCCCCCGATTCCCGGGTGCAGAATTGTAACTCGGGGTTGGGCCTCTATATGGAGTGACCAAAATGCCAAAATTGTCCATCTGCCTCTGAGTAGGGCAATGGAAATACCAAACCTTCTGACTTTGCCAAAAAGCATACAAGCAACCTGGTCATACATAGGATGACAAAATTCTTTCTGGTTGTTTTTAAACAATAAAGCAATAAGAACAAATACAATACATAGGAAGTTAAAAGCACAAAGGAATGAACTTATTAATATTTTTGAAAAATGCACTGGGAAAAAGTTGATGTCAATAACAGTATAAAACAGCCCTATTTCTTGATAAAAAATGACAAATGACTGTCTCTTGCGGATGCTTGGTACTGTAATGTTAATAATAGTCACCTGCTGTTGGATGCAGCAATAATTTCTGTATGGTCCATAGCACTGTATATTATGGATCGATATTAATGTATCCAATGAAATAATCGACTTGTTCTTGATAGCCTCATTAAAGCATTTGGTTTTTCACATAGTGGTGGCCTATTGTGTTAATGCCAATTTTGAATGCTATCTGCCATATCAAAAAATGGTAGTGCACATTTTCTTCTGATTTAATGAATAACAAATTGCATGAAAATTTAGAAAATGCCAGTAAGTACTTTTTTTGTTTAAAATGCCACTCTAAGATGTTACTTTTTGGTTTTAAACATTTTTGATTACTTTTTGACTTACACTCAGATGAGGTGTAATTATGCACCTTTTTTATCCCCCTCTGAATTTGGGGAGATTTTAAACTCCCAAATGCCAAGACTTCATTTTAGATATAGGAGTTTTATTTAAAATGTTTCATTGAGAGGTGGCTTTAAAAAAGAGAAATTGTCAGAGAAACCCTTGCATATTTACAGAAAAGATATTGGGTTTTTAAAATACAAATTTACAATAATGAAAGCTTAATATACCCAGGCTGCCAGCTCCTGGTTGCCTTTTTTTTTTAATACACTACTTAAGAATCATTTGATAAATGTTGGATTTGAATTGGGAAGTGTCAGACAAAACATGTCTTTATTCCCTAGCTAGACCTTAAACTTCTGCCCTTTTAAAAAATATATTCTGGCTTAACCTCTGGAGAAAATGAGCAAGAAACTTCCTGTAATGCTTCTGATCTGACTGTCAGCTTTTTCCTACTTTTAATTTTCTTCTTAAATTGTAATATACAATAATCAAGGCCTTTCTTTTTTAGACCTATTTGAATTATTTATATTTTCCCTAGAAGTATAACTGTAGGATCCCTTAAAAACATGTAAAAGTAGAAAGATTTCCTTTTGGAACAAGAGAGAATATTCTGGGCAAAATCAAAAGCAAGTAAGTTGAAAATTGGGGCTTTTCATCTCCGGGGGATCTGCAGCAATACCTTCACCCACATTTCTGTCCTGATATTTACCAGTAAATAGTCATTTCACAGCCCATAAGAATCCTTCATCTTTAGCTTCCCCCACTTACACACAGACACACACACACACACACACACACACACACACACAATTAACGTGTTATAGTGGTGTTACCTGAAGATTAGACATTTGCCTACAGTGTGTATGACTTCATTTGATATCCACAGAGTTACATTTCTTAAAATTTTATTA
AAATTTTTTTTCATGCTTTATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTACAAATGCCTCCAAAGTATTGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTTGCGTCAGAGAAATGTCTGTCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAGTTTAATTGAAAGAATGTAAAGCAACCAAAAAGAAAAAAAAAAAGAAAGAAAGAGGAAAAGAAATCCATACTAACCCTTTTCCATTTTATAAATGTATTGATTCATTGGTACTGCCTTAAAGATACAGTACCCCTCTAGCTTTGTTTAGTCTTTATACTGCAAACTATTTAAAGAAATATGTATTCTGTAAAAGAAAAAAAAAATGCGGCCTTTTCATGAGGATCGTCTGGTTAGAAAACATAACTGATACCAACCGAAACTGAAGGGAGTTAGACCAAGGCTCTGAAATATAAAGTCTAATCTTGCTCTCTTTTATTCTGTGCTGTTACAGTTTTCTTCATCAATGAGTGTGATCCAGTTTTTCATAAGATATTTTATTTTGAAATGGAAATTAATGTCCTCTCAAAGTAAAATATTGAGGAGCACTGAAAGTATGTTTTACTTTTTTTTTATTTTATTTTTGCTTTTGATAAGAAAACCGAACTGGGCATATTTCTAATTGGCTTTACTATTTTTATTTTTAAATTATGTTTTACTGTTCATTTGATTTGTACAGATTCTTTATTATCATTGTTCTTTTCAATATATTTGTATTAATTTGTAAGAATATGCATCTTAAAATGGCAAGTTTTCCATATTTTTACAACTCACTGGTGGTTTTCCGCATTCTTTGTACACCCATGAAAGAAAACTTTTATGCAAGGTCTTGCATTTAAAAGACAGCTTTGCGAATATTTTGTAAATTACAGTCTCACTCAGAACTGTTTTTGGACACATTTAAGGTGTAGTATTAATAGGTTAAAACCAGGCTTTCTAGAAAGAATAAACTTACATATTTATTTTTAGGACATGAAAATAGCAATATTCTTGGAGATTGATAACCATAGCATTAATACGCCCATTATGGTCATTTAAATTGGGGTTTATTTCAGCAAACTTGTTGAATTTATTTTTAAGAAAGAAATACTGTATTGGGAAGTTACTGTTACTTGATAACAATGTTTTAACAAGAAGCAATGTTATAAAGTTAGTTTCAGTGCATTATCTACTTGTGTAGTCCTATGCAATAACAGTAGTGTTACATGTATCAAGCCTAGATGTTTTATACAGATGCCATATAGTGTTATGAGCCAGGCTGTTGAATGGAATTTCTCAGTAGCAGCCTACAACTGAATAGCAAGTGGCATAAAGCATATCCATTCAGAATGAAGTGCCTTAAATATAGCAGTAGTCTTTTTTGGACTAGCACTGACTGAACTGTAATGTAGGGGAAAGTTTCATGATGGTATCTATAGTCAAGACGAACATGTAGCATGGTGCCTATGTAGACAATATAAGAGCTTCCAATTTTCCTTCAGATATTTTTAATATTAAATATATTTTAGTGACAGAGTGCCAACTTCTTTCATCAGGAAACCTTATTCAGGAGGGTTTTTAAAAAGTGTTTAAATGTCAAATGTGAATTGGTGATGGGTGATGGAGGGTTCAGAGAGGAGTGATCGTCAGATGTGTGAATGGACGGTTTAGGTGAAAATAATCAACTGCATAGTTCCCATGCACGCTGGGCAATGAGAATCCTTGGAAACATTGGTGATGCTATCAGTTTTATAGCTTTATTTCTTAAGGGGGTAGGGAAAATTAGTTCCCATTCTTTCAACCCCCTTAACTGTATAGCTCTTTTCCTAGAATAGTGACGCAAATCTGCATGAACAGCTAATTGTACCATAGTGTTCATTGATACAATCATAGCATTGTCTATTTTTCTCTTCATATTTATATGGGGGGGGAGGGCGCTGGATGCAAAAGTTGAAGATCGTGATGCTATGATGTTAGTTTTCCTTAGCTGATTTTGAGGGTTTTTAAAAATAAAGCAAGGTTGACTAACCTACGGCCACGGGAACAGGACCATGGTTAAGCAACCATATAGAAAGCTTTGTTGAAAGAAAGTATGGCATCTTGTACCACTGCCCTGACTGTCACAACTCCTAACCTTGCCATTGCCTGCCTCCCCCTCCCCTTCTCCTTAAGAGACAATTTCTGCAGGTGGCAGGTGAGCAAGCCCAGGAGAATGCTGCAATCTTGGGGGTGGTTTTATTTATTTCTTTTTTGCCAAATAGAGTGTGGATTCATTTCAGGGGCTAGCTAAGCCAAGAGGCAGTGGTTTGGGCTTGTTGTTTGTAACAAGAAAATGATCCACACCACTCCCCCGATTCCCGGGTGCAGAATTGTAACTCGGGGTTGGGCCTCTATATGGAGTGACCAAAATGCCAAAATTGTCCATCTGCCTCTGAGTAGGGCAATGGAAATACCAAACCTTCTGACTTTGCCAAAAAGCATACAAGCAACCTGGTCATACATAGGATGACAAAATTCTTTCTGGTTGTTTTTAAACAATAAAGCAATAAGAACAAATACAATACATAGGAAGTTAAAAGCACAAAGGAATGAACTTATTAATATTTTTGAAAAATGCACTGGGAAAAAGTTGATGTCAATAACAGTATAAAACAGCCCTATTTCTTGATAAAAAATGACAAATGACTGTCTCTTGCGGATGCTTGGTACTGTAATGTTAATAATAGTCACCTGCTGTTGGATGCAGCAATAATTTCTGTATGGTCCATAGCACTGTATATTATGGATCGATATTAATGTATCCAATGAAATAATCGACTTGTTCTTGATAGCCTCATTAAAGCATTTGGTTTTTCACATAGTGGTGGCCTATTGTGTTAATGCCAATTTTGAATGCTATCTGCCATATCAAAAAATGGTAGTGCACATTTTCTTCTGATTTAATGAATAACAAATTGCATGAAAATTTAGAAAATGCCAGTAAGTACTTTTTTTGTTTAAAATGCCACTCTAAGATGTTACTTTTTGGTTTTAAACATTTTTGATTACTTTTTGACTTACACTCAGATGAGGTGTAATTATGCACCTTTTTTATCCCCCTCTGAATTTGGGGAGATTTTAAACTCCCAAATGCCAAGACTTCATTTTAGATATAGGAGTTTTATTTAAAATGTTTCATTGAGAGGTGGCTTTAAAAAAGAGAAATTGTCAGAGAAACCCTTGCATATTTACAGAAAAGATATTGGGTTTTTAAAATACAAATTTACAATAATGAAAGCTTAATATACCCAGGCTGCCAGCTCCTGGTTGCCTTTTTTTTTTAATACACTACTTAAGAATCATTTGATAAATGTTGGATTTGAATTGGGAAGTGTCAGACAAAACATGTCTTTATTCCCTAGCTAGACCTTAAACTTCTGCCCTTTTAAAAAATATATTCTGGCTTAACCTCTGGAGAAAATGAGCAAGAAACTTCCTGTAATGCTTCTGATCTGACTGTCAGCTTTTTCCTACTTTTAATTTTCTTCTTAAATTGTAATATACAATAATCAAGGCCTTTCTTTTTTAGACCTATTTGAATTATTTATATTTTCCCTAGAAGTATAACTGTAGGATCCCTTAAAAACATGTAAAAGTAGAAAGATTTCCTTTTGGAACAAGAGAGAATATTCTGGGCAAAATCAAAAGCAAGTAAGTTGAAAATTGGGGCTTTTCATCTCCGGGGGATCTGCAGCAATACCTTCACCCACATTTCTGTCCTGATATTTACCAGTAAATAGTCATTTCACAGCCCATAAGAATCCTTCATCTTTAGCTTCCCCCACTTACACACAGACACACACACACACACACACACACACACACACACAATTAACGTGTTATAGTGGTGTTACCTGAAGATTAGACATTTGCCTACAGTGTGTATGACTTCATTTGATATCCACAGAGTTACATTTCTTAAAATTTTATT
benign
71,105
Assess the variant on chromosome 3, position 70977934, impacting FOXP1 (forkhead box P1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['FOXP1-related_disorder', 'Intellectual_disability-severe_speech_delay-mild_dysmorphism_syndrome']
ACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCATGCCTGGCTAATTCATTGAATTTTTTTTGTAGAGACAGGGTCTCGCTACGTTGCCCAGGCTGGTCTCTAACTCCTGAGCTCAAGTGATCCTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGCCGACAATCTCTTGACTTAAAACCAAAAAAAGAAAAACAAAAACCCCTGCCCCTTAATAATACATTGTGTTCTCCATTAATAACTCCTACAAACAGTGCTAGTGCTTGGATTGCACAGCTTTCTCTACTAATTGGGTTAATGAGCTATTTATCCAACCATTGAAGGCTGTGTCAAGTTTGGTCATTTCTCCAGGTTCCATCTCTGGAGATAGATCGCTGGAGATACATCTCTGCAAATATCGGCTGTGGCTGAAGACCTAACGGCATGAGGTTTGTGCAAGTAATATGGCAACCTCCACTTCTGGGCGACGGTGTTGTCTCCTTTTCTCTACATATTCCAACCAGAGAGAGATCACTTTACTGGCTGGCCCCTCCACACTGCTGATGCTGGTATAATGGGAGTCTTCCATCAGAGCATTTCAACCACAATGGCACTATTTTCCCAATCAAATACACCTAGAGATTGGACACTTTAAGAGTATCAAAACAATATAAATGTAGCTTCCTTATAGCACAACTGCATTTTATCAACAACAAACTGTTCTATGAACGTCAAGATCCAAGAATAAACAGGCCTGAGAAAGCTTACCTTCCACGTGGCCGCGTTGCGTCGGAAGTAAGCAAACATTCGTGTGAACCAGTTATAGATCTCATTTAGTGTTAGCTGCTTTTCTGGAGATTCGAGAATGGCCTGTGAAGCAGAATGTAACAGAAGATAATTTATGACCAAATCAGCAGAGTCGTCATTCCACAGTTTCTCGAAAATATAAAATCACTGTGATTCAGAGCTAAATCCTGAGAAAGGTTTTACAAAATGATCTAAGATTAATGGTTGTATTTAACAGTTCAATAGCAAAATTCAAAATGGAATTATCTAATTGTTTTGAGTTTTTATTTCTGTTTCCGTACAGAAATATTAATTTATTAGTCATTCATAAAGCAGAATCAAAGAGAAATGCAAAACATTTCACTAGCTGATTAAAGCTCAGTAATTATTTAGAGCTCAGATTAATTCTAGGGATCAGAGATTACTGTAGCTTGTGATAATTGACTTGCCATCTTTAAACAGGCTCATTTTCACTGTTGTGTGAAATGAATTTCCTAATAATCACATCGTATTGTAATACTTAATCAAAAGCAATTATGTTATATATTGCAGTTTTAAAAAACCTTATAGAAAAGGTTTCAGCATGCTTGCATACTAAACGGTTTTTAAATCTACTTCATCAATATATATCCATGTACACATATACCTTCTGACAGAATTTCATATACTGTGTTATTTACTTACCTGCCTAATTAAAGATGCATATGTAAATGGTGGTCTAACTTCTGCGTTCTTATAAAATTCTTGGTTCTGCGCAATATCTGCTGAATAAGAATCATTGTCCTATTAATTATCACTTTTTCAAAAGGGGCTGGTCTACAAGAATTGCAGATTACAACTCTACGTGAGGCAAAAGGTGGAGTATCTACCTGACGAAATGGGCACGTTGTATTTGTCTGAGTACCGCCTGCGGATGGGTCCCACCGTGTGCATGCTGGTGGTTGTGATGACAGAGGGGCCTTGGGTGACGGGAGTCAGGGGGGCGGTTGGGGTCGTTGGAGTATGAGGTAAGCTCTGTGGAGAAGCCTCCGATGCGGACTTGGAGAGAGTGACACTTGATACCAGATTCAACTGCAAGGAAAAAAACAACGTCTTAGAAGACCTTCAGAAAACCAGAGCAACCCAGGAACCACATCTAGCAGGAGTAACACAGAGGATGCGTGGGCACCGTTTCTTCCTCTATGTAGATGGTATGTTTACCATGAACCGAAACACACGGTGAGTCCTGCGTGAATTCACTTAGGATGCAGTGTAAGATATCTCTGGCAGCGGTCTCTTTTCCAAAGGCTGCTACATGGGTGTTTACAGGCTCAAAAAGGGGTTACCTACCTGAGGGAGTGTGAGAAACCCTGAGTCAAGACATTTATTTCATTGTGATGTCTCACCTATAGGCTTTGATCGCCCATCAGGCCTTGTCAACCTCAAAGAGGGAGAGAAGTCCTTAGCAATACCAGTGAAGCTGAGTATTTTAGGTGACACCAGTTGGGATACGCTGGTGTAGATCTGAAGAAGTGTCCAGCAGAATTTCTGCAATATGCTAGCACAACCAAAGAGCTGTTTTTACTTGATTTTTATTAAAATTAAACTTTAATAAATGTAAATGGAAAGAGCCCCATGTGGCTAGTAGCTACCATACTAGACAGCCCAGGAAGAGCCTACTGAGCTCCCTCATGCAGCTTCGTGGATGACGAGAACTCCTGCAAATATGTGTGGCCTATTTATTACTCATATTAAACACAATGGGCCTGACCCCACCAGCTGTCATTTGTTTCTATCAATCAATCAATCAGTTGGCAGAAAATAATCCTTAACAGCATTATGAATAACCTTTATTAAATCTATCAAATACAGGCTTGGGATCTGTTAATTTTTTTTATTGTGACATTCTTTTACAGAATACGGGAGATCTGCAACTGAGGTTTTTGATTTTTTTCCTTCAAGTTTTGAATGTTCTATAAAATGGGAAATAATCTGCTTCAAGTTAGGAAATGAATATTACTTATTTGAAGTAGAAGAGAATAAAATAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGTGGGAGGATCTCTTGAGGCCAGGAGTTTGAAACCAGGCTGGACAACATGGTGAAACTCTGTCTCCATTAACGCACACACATACACACACACACAAATTAGCCATGTGTGGTGGCACATGCCTGTAGTCCCAGCTACCTAGGAGGCTGAGGTGGGAAGATAGCTTGAGTCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACCACTGCATTCCAGCCTGGGTGATAGAGTGAGACTCTACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAATAAATTAATGAGCACTGTTTCAATTTATCTTTCTTATCTTCACCTTAAAGTACTGTTCTTACAAATACTAAAAGGCATAACCCTTCCCCAAAATTTGTTGCAACAGAAATATTATTTTACGTCTGGCAATGCTGAAGAATTTGGTTGTTTTCAGCGTATGTATTACTGTTTATGTGCTGTCTCAGATACACAGACCCACCCTAAAATCCAATAAACTTCAGCAAAGTAGGCTTACTTGGTAATATTTTCTCAAACCAGATTTCAAATCACTTACCATAGTAAGTCTATTTCACCAAGTCTAATTCACCATTGCTATAGTCAGTCTTAAGTACAAGGCAGTATTTGTGGAAGGTATTAAAAATGAGATTCCTCTGAGATCATAATCAAAGAACTTATTAAAAGAGAGTTCCAATATGTTGGGAAGACTCGACCTTTACTCACACTCTAGTTAAAAAAAAAAAAAAAGGGAGGGGGGCCTGAGAATCCTCTCTAATATGTTTCAGGAGAGTTTCATAAAAAAGCAATGAACCTGAAGAAAAGAAAGATCAAATATCATGAAGAAATACTAATGGAAAAATGTAAACATGGCGCTGGAAACAGAATGTTGTGAGCTTTGAGTTGTGCTTTCCTTTTTATTTTCAGCGTAGAATGTT
ACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCATGCCTGGCTAATTCATTGAATTTTTTTTGTAGAGACAGGGTCTCGCTACGTTGCCCAGGCTGGTCTCTAACTCCTGAGCTCAAGTGATCCTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGCCGACAATCTCTTGACTTAAAACCAAAAAAAGAAAAACAAAAACCCCTGCCCCTTAATAATACATTGTGTTCTCCATTAATAACTCCTACAAACAGTGCTAGTGCTTGGATTGCACAGCTTTCTCTACTAATTGGGTTAATGAGCTATTTATCCAACCATTGAAGGCTGTGTCAAGTTTGGTCATTTCTCCAGGTTCCATCTCTGGAGATAGATCGCTGGAGATACATCTCTGCAAATATCGGCTGTGGCTGAAGACCTAACGGCATGAGGTTTGTGCAAGTAATATGGCAACCTCCACTTCTGGGCGACGGTGTTGTCTCCTTTTCTCTACATATTCCAACCAGAGAGAGATCACTTTACTGGCTGGCCCCTCCACACTGCTGATGCTGGTATAATGGGAGTCTTCCATCAGAGCATTTCAACCACAATGGCACTATTTTCCCAATCAAATACACCTAGAGATTGGACACTTTAAGAGTATCAAAACAATATAAATGTAGCTTCCTTATAGCACAACTGCATTTTATCAACAACAAACTGTTCTATGAACGTCAAGATCCAAGAATAAACAGGCCTGAGAAAGCTTACCTTCCACGTGGCCGCGTTGCGTCGGAAGTAAGCAAACATTCGTGTGAACCAGTTATAGATCTCATTTAGTGTTAGCTGCTTTTCTGGAGATTCGAGAATGGCCTGTGAAGCAGAATGTAACAGAAGATAATTTATGACCAAATCAGCAGAGTCGTCATTCCACAGTTTCTCGAAAATATAAAATCACTGTGATTCAGAGCTAAATCCTGAGAAAGGTTTTACAAAATGATCTAAGATTAATGGTTGTATTTAACAGTTCAATAGCAAAATTCAAAATGGAATTATCTAATTGTTTTGAGTTTTTATTTCTGTTTCCGTACAGAAATATTAATTTATTAGTCATTCATAAAGCAGAATCAAAGAGAAATGCAAAACATTTCACTAGCTGATTAAAGCTCAGTAATTATTTAGAGCTCAGATTAATTCTAGGGATCAGAGATTACTGTAGCTTGTGATAATTGACTTGCCATCTTTAAACAGGCTCATTTTCACTGTTGTGTGAAATGAATTTCCTAATAATCACATCGTATTGTAATACTTAATCAAAAGCAATTATGTTATATATTGCAGTTTTAAAAAACCTTATAGAAAAGGTTTCAGCATGCTTGCATACTAAACGGTTTTTAAATCTACTTCATCAATATATATCCATGTACACATATACCTTCTGACAGAATTTCATATACTGTGTTATTTACTTACCTGCCTAATTAAAGATGCATATGTAAATGGTGGTCTAACTTCTGCGTTCTTATAAAATTCTTGGTTCTGCGCAATATCTGCTGAATAAGAATCATTGTCCTATTAATTATCACTTTTTCAAAAGGGGCTGGTCTACAAGAATTGCAGATTACAACTCTACGTGAGGCAAAAGGTGGAGTATCTACCTGACGAAATGGGCACGTTGTATTTGTCTGAGTACCGCCTGCGGATGGGTCCCACCGTGTGCATGCTGGTGGTTGTGATGACAGAGGGGCCTTGGGTGACGGGAGTCGGGGGGCGGTTGGGGTCGTTGGAGTATGAGGTAAGCTCTGTGGAGAAGCCTCCGATGCGGACTTGGAGAGAGTGACACTTGATACCAGATTCAACTGCAAGGAAAAAAACAACGTCTTAGAAGACCTTCAGAAAACCAGAGCAACCCAGGAACCACATCTAGCAGGAGTAACACAGAGGATGCGTGGGCACCGTTTCTTCCTCTATGTAGATGGTATGTTTACCATGAACCGAAACACACGGTGAGTCCTGCGTGAATTCACTTAGGATGCAGTGTAAGATATCTCTGGCAGCGGTCTCTTTTCCAAAGGCTGCTACATGGGTGTTTACAGGCTCAAAAAGGGGTTACCTACCTGAGGGAGTGTGAGAAACCCTGAGTCAAGACATTTATTTCATTGTGATGTCTCACCTATAGGCTTTGATCGCCCATCAGGCCTTGTCAACCTCAAAGAGGGAGAGAAGTCCTTAGCAATACCAGTGAAGCTGAGTATTTTAGGTGACACCAGTTGGGATACGCTGGTGTAGATCTGAAGAAGTGTCCAGCAGAATTTCTGCAATATGCTAGCACAACCAAAGAGCTGTTTTTACTTGATTTTTATTAAAATTAAACTTTAATAAATGTAAATGGAAAGAGCCCCATGTGGCTAGTAGCTACCATACTAGACAGCCCAGGAAGAGCCTACTGAGCTCCCTCATGCAGCTTCGTGGATGACGAGAACTCCTGCAAATATGTGTGGCCTATTTATTACTCATATTAAACACAATGGGCCTGACCCCACCAGCTGTCATTTGTTTCTATCAATCAATCAATCAGTTGGCAGAAAATAATCCTTAACAGCATTATGAATAACCTTTATTAAATCTATCAAATACAGGCTTGGGATCTGTTAATTTTTTTTATTGTGACATTCTTTTACAGAATACGGGAGATCTGCAACTGAGGTTTTTGATTTTTTTCCTTCAAGTTTTGAATGTTCTATAAAATGGGAAATAATCTGCTTCAAGTTAGGAAATGAATATTACTTATTTGAAGTAGAAGAGAATAAAATAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGTGGGAGGATCTCTTGAGGCCAGGAGTTTGAAACCAGGCTGGACAACATGGTGAAACTCTGTCTCCATTAACGCACACACATACACACACACACAAATTAGCCATGTGTGGTGGCACATGCCTGTAGTCCCAGCTACCTAGGAGGCTGAGGTGGGAAGATAGCTTGAGTCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACCACTGCATTCCAGCCTGGGTGATAGAGTGAGACTCTACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAATAAATTAATGAGCACTGTTTCAATTTATCTTTCTTATCTTCACCTTAAAGTACTGTTCTTACAAATACTAAAAGGCATAACCCTTCCCCAAAATTTGTTGCAACAGAAATATTATTTTACGTCTGGCAATGCTGAAGAATTTGGTTGTTTTCAGCGTATGTATTACTGTTTATGTGCTGTCTCAGATACACAGACCCACCCTAAAATCCAATAAACTTCAGCAAAGTAGGCTTACTTGGTAATATTTTCTCAAACCAGATTTCAAATCACTTACCATAGTAAGTCTATTTCACCAAGTCTAATTCACCATTGCTATAGTCAGTCTTAAGTACAAGGCAGTATTTGTGGAAGGTATTAAAAATGAGATTCCTCTGAGATCATAATCAAAGAACTTATTAAAAGAGAGTTCCAATATGTTGGGAAGACTCGACCTTTACTCACACTCTAGTTAAAAAAAAAAAAAAAGGGAGGGGGGCCTGAGAATCCTCTCTAATATGTTTCAGGAGAGTTTCATAAAAAAGCAATGAACCTGAAGAAAAGAAAGATCAAATATCATGAAGAAATACTAATGGAAAAATGTAAACATGGCGCTGGAAACAGAATGTTGTGAGCTTTGAGTTGTGCTTTCCTTTTTATTTTCAGCGTAGAATGTTN
pathogenic
71,163
Does the chromosome 3 mutation at position 70977934 within gene FOXP1 (forkhead box P1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability-severe_speech_delay-mild_dysmorphism_syndrome']
ACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCATGCCTGGCTAATTCATTGAATTTTTTTTGTAGAGACAGGGTCTCGCTACGTTGCCCAGGCTGGTCTCTAACTCCTGAGCTCAAGTGATCCTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGCCGACAATCTCTTGACTTAAAACCAAAAAAAGAAAAACAAAAACCCCTGCCCCTTAATAATACATTGTGTTCTCCATTAATAACTCCTACAAACAGTGCTAGTGCTTGGATTGCACAGCTTTCTCTACTAATTGGGTTAATGAGCTATTTATCCAACCATTGAAGGCTGTGTCAAGTTTGGTCATTTCTCCAGGTTCCATCTCTGGAGATAGATCGCTGGAGATACATCTCTGCAAATATCGGCTGTGGCTGAAGACCTAACGGCATGAGGTTTGTGCAAGTAATATGGCAACCTCCACTTCTGGGCGACGGTGTTGTCTCCTTTTCTCTACATATTCCAACCAGAGAGAGATCACTTTACTGGCTGGCCCCTCCACACTGCTGATGCTGGTATAATGGGAGTCTTCCATCAGAGCATTTCAACCACAATGGCACTATTTTCCCAATCAAATACACCTAGAGATTGGACACTTTAAGAGTATCAAAACAATATAAATGTAGCTTCCTTATAGCACAACTGCATTTTATCAACAACAAACTGTTCTATGAACGTCAAGATCCAAGAATAAACAGGCCTGAGAAAGCTTACCTTCCACGTGGCCGCGTTGCGTCGGAAGTAAGCAAACATTCGTGTGAACCAGTTATAGATCTCATTTAGTGTTAGCTGCTTTTCTGGAGATTCGAGAATGGCCTGTGAAGCAGAATGTAACAGAAGATAATTTATGACCAAATCAGCAGAGTCGTCATTCCACAGTTTCTCGAAAATATAAAATCACTGTGATTCAGAGCTAAATCCTGAGAAAGGTTTTACAAAATGATCTAAGATTAATGGTTGTATTTAACAGTTCAATAGCAAAATTCAAAATGGAATTATCTAATTGTTTTGAGTTTTTATTTCTGTTTCCGTACAGAAATATTAATTTATTAGTCATTCATAAAGCAGAATCAAAGAGAAATGCAAAACATTTCACTAGCTGATTAAAGCTCAGTAATTATTTAGAGCTCAGATTAATTCTAGGGATCAGAGATTACTGTAGCTTGTGATAATTGACTTGCCATCTTTAAACAGGCTCATTTTCACTGTTGTGTGAAATGAATTTCCTAATAATCACATCGTATTGTAATACTTAATCAAAAGCAATTATGTTATATATTGCAGTTTTAAAAAACCTTATAGAAAAGGTTTCAGCATGCTTGCATACTAAACGGTTTTTAAATCTACTTCATCAATATATATCCATGTACACATATACCTTCTGACAGAATTTCATATACTGTGTTATTTACTTACCTGCCTAATTAAAGATGCATATGTAAATGGTGGTCTAACTTCTGCGTTCTTATAAAATTCTTGGTTCTGCGCAATATCTGCTGAATAAGAATCATTGTCCTATTAATTATCACTTTTTCAAAAGGGGCTGGTCTACAAGAATTGCAGATTACAACTCTACGTGAGGCAAAAGGTGGAGTATCTACCTGACGAAATGGGCACGTTGTATTTGTCTGAGTACCGCCTGCGGATGGGTCCCACCGTGTGCATGCTGGTGGTTGTGATGACAGAGGGGCCTTGGGTGACGGGAGTCAGGGGGGCGGTTGGGGTCGTTGGAGTATGAGGTAAGCTCTGTGGAGAAGCCTCCGATGCGGACTTGGAGAGAGTGACACTTGATACCAGATTCAACTGCAAGGAAAAAAACAACGTCTTAGAAGACCTTCAGAAAACCAGAGCAACCCAGGAACCACATCTAGCAGGAGTAACACAGAGGATGCGTGGGCACCGTTTCTTCCTCTATGTAGATGGTATGTTTACCATGAACCGAAACACACGGTGAGTCCTGCGTGAATTCACTTAGGATGCAGTGTAAGATATCTCTGGCAGCGGTCTCTTTTCCAAAGGCTGCTACATGGGTGTTTACAGGCTCAAAAAGGGGTTACCTACCTGAGGGAGTGTGAGAAACCCTGAGTCAAGACATTTATTTCATTGTGATGTCTCACCTATAGGCTTTGATCGCCCATCAGGCCTTGTCAACCTCAAAGAGGGAGAGAAGTCCTTAGCAATACCAGTGAAGCTGAGTATTTTAGGTGACACCAGTTGGGATACGCTGGTGTAGATCTGAAGAAGTGTCCAGCAGAATTTCTGCAATATGCTAGCACAACCAAAGAGCTGTTTTTACTTGATTTTTATTAAAATTAAACTTTAATAAATGTAAATGGAAAGAGCCCCATGTGGCTAGTAGCTACCATACTAGACAGCCCAGGAAGAGCCTACTGAGCTCCCTCATGCAGCTTCGTGGATGACGAGAACTCCTGCAAATATGTGTGGCCTATTTATTACTCATATTAAACACAATGGGCCTGACCCCACCAGCTGTCATTTGTTTCTATCAATCAATCAATCAGTTGGCAGAAAATAATCCTTAACAGCATTATGAATAACCTTTATTAAATCTATCAAATACAGGCTTGGGATCTGTTAATTTTTTTTATTGTGACATTCTTTTACAGAATACGGGAGATCTGCAACTGAGGTTTTTGATTTTTTTCCTTCAAGTTTTGAATGTTCTATAAAATGGGAAATAATCTGCTTCAAGTTAGGAAATGAATATTACTTATTTGAAGTAGAAGAGAATAAAATAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGTGGGAGGATCTCTTGAGGCCAGGAGTTTGAAACCAGGCTGGACAACATGGTGAAACTCTGTCTCCATTAACGCACACACATACACACACACACAAATTAGCCATGTGTGGTGGCACATGCCTGTAGTCCCAGCTACCTAGGAGGCTGAGGTGGGAAGATAGCTTGAGTCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACCACTGCATTCCAGCCTGGGTGATAGAGTGAGACTCTACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAATAAATTAATGAGCACTGTTTCAATTTATCTTTCTTATCTTCACCTTAAAGTACTGTTCTTACAAATACTAAAAGGCATAACCCTTCCCCAAAATTTGTTGCAACAGAAATATTATTTTACGTCTGGCAATGCTGAAGAATTTGGTTGTTTTCAGCGTATGTATTACTGTTTATGTGCTGTCTCAGATACACAGACCCACCCTAAAATCCAATAAACTTCAGCAAAGTAGGCTTACTTGGTAATATTTTCTCAAACCAGATTTCAAATCACTTACCATAGTAAGTCTATTTCACCAAGTCTAATTCACCATTGCTATAGTCAGTCTTAAGTACAAGGCAGTATTTGTGGAAGGTATTAAAAATGAGATTCCTCTGAGATCATAATCAAAGAACTTATTAAAAGAGAGTTCCAATATGTTGGGAAGACTCGACCTTTACTCACACTCTAGTTAAAAAAAAAAAAAAAGGGAGGGGGGCCTGAGAATCCTCTCTAATATGTTTCAGGAGAGTTTCATAAAAAAGCAATGAACCTGAAGAAAAGAAAGATCAAATATCATGAAGAAATACTAATGGAAAAATGTAAACATGGCGCTGGAAACAGAATGTTGTGAGCTTTGAGTTGTGCTTTCCTTTTTATTTTCAGCGTAGAATGTT
ACCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCATGCCTGGCTAATTCATTGAATTTTTTTTGTAGAGACAGGGTCTCGCTACGTTGCCCAGGCTGGTCTCTAACTCCTGAGCTCAAGTGATCCTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGCCGACAATCTCTTGACTTAAAACCAAAAAAAGAAAAACAAAAACCCCTGCCCCTTAATAATACATTGTGTTCTCCATTAATAACTCCTACAAACAGTGCTAGTGCTTGGATTGCACAGCTTTCTCTACTAATTGGGTTAATGAGCTATTTATCCAACCATTGAAGGCTGTGTCAAGTTTGGTCATTTCTCCAGGTTCCATCTCTGGAGATAGATCGCTGGAGATACATCTCTGCAAATATCGGCTGTGGCTGAAGACCTAACGGCATGAGGTTTGTGCAAGTAATATGGCAACCTCCACTTCTGGGCGACGGTGTTGTCTCCTTTTCTCTACATATTCCAACCAGAGAGAGATCACTTTACTGGCTGGCCCCTCCACACTGCTGATGCTGGTATAATGGGAGTCTTCCATCAGAGCATTTCAACCACAATGGCACTATTTTCCCAATCAAATACACCTAGAGATTGGACACTTTAAGAGTATCAAAACAATATAAATGTAGCTTCCTTATAGCACAACTGCATTTTATCAACAACAAACTGTTCTATGAACGTCAAGATCCAAGAATAAACAGGCCTGAGAAAGCTTACCTTCCACGTGGCCGCGTTGCGTCGGAAGTAAGCAAACATTCGTGTGAACCAGTTATAGATCTCATTTAGTGTTAGCTGCTTTTCTGGAGATTCGAGAATGGCCTGTGAAGCAGAATGTAACAGAAGATAATTTATGACCAAATCAGCAGAGTCGTCATTCCACAGTTTCTCGAAAATATAAAATCACTGTGATTCAGAGCTAAATCCTGAGAAAGGTTTTACAAAATGATCTAAGATTAATGGTTGTATTTAACAGTTCAATAGCAAAATTCAAAATGGAATTATCTAATTGTTTTGAGTTTTTATTTCTGTTTCCGTACAGAAATATTAATTTATTAGTCATTCATAAAGCAGAATCAAAGAGAAATGCAAAACATTTCACTAGCTGATTAAAGCTCAGTAATTATTTAGAGCTCAGATTAATTCTAGGGATCAGAGATTACTGTAGCTTGTGATAATTGACTTGCCATCTTTAAACAGGCTCATTTTCACTGTTGTGTGAAATGAATTTCCTAATAATCACATCGTATTGTAATACTTAATCAAAAGCAATTATGTTATATATTGCAGTTTTAAAAAACCTTATAGAAAAGGTTTCAGCATGCTTGCATACTAAACGGTTTTTAAATCTACTTCATCAATATATATCCATGTACACATATACCTTCTGACAGAATTTCATATACTGTGTTATTTACTTACCTGCCTAATTAAAGATGCATATGTAAATGGTGGTCTAACTTCTGCGTTCTTATAAAATTCTTGGTTCTGCGCAATATCTGCTGAATAAGAATCATTGTCCTATTAATTATCACTTTTTCAAAAGGGGCTGGTCTACAAGAATTGCAGATTACAACTCTACGTGAGGCAAAAGGTGGAGTATCTACCTGACGAAATGGGCACGTTGTATTTGTCTGAGTACCGCCTGCGGATGGGTCCCACCGTGTGCATGCTGGTGGTTGTGATGACAGAGGGGCCTTGGGTGACGGGAGTCGGGGGCGGTTGGGGTCGTTGGAGTATGAGGTAAGCTCTGTGGAGAAGCCTCCGATGCGGACTTGGAGAGAGTGACACTTGATACCAGATTCAACTGCAAGGAAAAAAACAACGTCTTAGAAGACCTTCAGAAAACCAGAGCAACCCAGGAACCACATCTAGCAGGAGTAACACAGAGGATGCGTGGGCACCGTTTCTTCCTCTATGTAGATGGTATGTTTACCATGAACCGAAACACACGGTGAGTCCTGCGTGAATTCACTTAGGATGCAGTGTAAGATATCTCTGGCAGCGGTCTCTTTTCCAAAGGCTGCTACATGGGTGTTTACAGGCTCAAAAAGGGGTTACCTACCTGAGGGAGTGTGAGAAACCCTGAGTCAAGACATTTATTTCATTGTGATGTCTCACCTATAGGCTTTGATCGCCCATCAGGCCTTGTCAACCTCAAAGAGGGAGAGAAGTCCTTAGCAATACCAGTGAAGCTGAGTATTTTAGGTGACACCAGTTGGGATACGCTGGTGTAGATCTGAAGAAGTGTCCAGCAGAATTTCTGCAATATGCTAGCACAACCAAAGAGCTGTTTTTACTTGATTTTTATTAAAATTAAACTTTAATAAATGTAAATGGAAAGAGCCCCATGTGGCTAGTAGCTACCATACTAGACAGCCCAGGAAGAGCCTACTGAGCTCCCTCATGCAGCTTCGTGGATGACGAGAACTCCTGCAAATATGTGTGGCCTATTTATTACTCATATTAAACACAATGGGCCTGACCCCACCAGCTGTCATTTGTTTCTATCAATCAATCAATCAGTTGGCAGAAAATAATCCTTAACAGCATTATGAATAACCTTTATTAAATCTATCAAATACAGGCTTGGGATCTGTTAATTTTTTTTATTGTGACATTCTTTTACAGAATACGGGAGATCTGCAACTGAGGTTTTTGATTTTTTTCCTTCAAGTTTTGAATGTTCTATAAAATGGGAAATAATCTGCTTCAAGTTAGGAAATGAATATTACTTATTTGAAGTAGAAGAGAATAAAATAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGTGGGAGGATCTCTTGAGGCCAGGAGTTTGAAACCAGGCTGGACAACATGGTGAAACTCTGTCTCCATTAACGCACACACATACACACACACACAAATTAGCCATGTGTGGTGGCACATGCCTGTAGTCCCAGCTACCTAGGAGGCTGAGGTGGGAAGATAGCTTGAGTCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACCACTGCATTCCAGCCTGGGTGATAGAGTGAGACTCTACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAATAAATTAATGAGCACTGTTTCAATTTATCTTTCTTATCTTCACCTTAAAGTACTGTTCTTACAAATACTAAAAGGCATAACCCTTCCCCAAAATTTGTTGCAACAGAAATATTATTTTACGTCTGGCAATGCTGAAGAATTTGGTTGTTTTCAGCGTATGTATTACTGTTTATGTGCTGTCTCAGATACACAGACCCACCCTAAAATCCAATAAACTTCAGCAAAGTAGGCTTACTTGGTAATATTTTCTCAAACCAGATTTCAAATCACTTACCATAGTAAGTCTATTTCACCAAGTCTAATTCACCATTGCTATAGTCAGTCTTAAGTACAAGGCAGTATTTGTGGAAGGTATTAAAAATGAGATTCCTCTGAGATCATAATCAAAGAACTTATTAAAAGAGAGTTCCAATATGTTGGGAAGACTCGACCTTTACTCACACTCTAGTTAAAAAAAAAAAAAAAGGGAGGGGGGCCTGAGAATCCTCTCTAATATGTTTCAGGAGAGTTTCATAAAAAAGCAATGAACCTGAAGAAAAGAAAGATCAAATATCATGAAGAAATACTAATGGAAAAATGTAAACATGGCGCTGGAAACAGAATGTTGTGAGCTTTGAGTTGTGCTTTCCTTTTTATTTTCAGCGTAGAATGTTNN
pathogenic
71,164
The genetic variant at chromosome 3, position 70977935, affecting gene FOXP1 (forkhead box P1): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Developmental_disorder', 'Inborn_genetic_diseases', 'Intellectual_disability-severe_speech_delay-mild_dysmorphism_syndrome']
CCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCATGCCTGGCTAATTCATTGAATTTTTTTTGTAGAGACAGGGTCTCGCTACGTTGCCCAGGCTGGTCTCTAACTCCTGAGCTCAAGTGATCCTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGCCGACAATCTCTTGACTTAAAACCAAAAAAAGAAAAACAAAAACCCCTGCCCCTTAATAATACATTGTGTTCTCCATTAATAACTCCTACAAACAGTGCTAGTGCTTGGATTGCACAGCTTTCTCTACTAATTGGGTTAATGAGCTATTTATCCAACCATTGAAGGCTGTGTCAAGTTTGGTCATTTCTCCAGGTTCCATCTCTGGAGATAGATCGCTGGAGATACATCTCTGCAAATATCGGCTGTGGCTGAAGACCTAACGGCATGAGGTTTGTGCAAGTAATATGGCAACCTCCACTTCTGGGCGACGGTGTTGTCTCCTTTTCTCTACATATTCCAACCAGAGAGAGATCACTTTACTGGCTGGCCCCTCCACACTGCTGATGCTGGTATAATGGGAGTCTTCCATCAGAGCATTTCAACCACAATGGCACTATTTTCCCAATCAAATACACCTAGAGATTGGACACTTTAAGAGTATCAAAACAATATAAATGTAGCTTCCTTATAGCACAACTGCATTTTATCAACAACAAACTGTTCTATGAACGTCAAGATCCAAGAATAAACAGGCCTGAGAAAGCTTACCTTCCACGTGGCCGCGTTGCGTCGGAAGTAAGCAAACATTCGTGTGAACCAGTTATAGATCTCATTTAGTGTTAGCTGCTTTTCTGGAGATTCGAGAATGGCCTGTGAAGCAGAATGTAACAGAAGATAATTTATGACCAAATCAGCAGAGTCGTCATTCCACAGTTTCTCGAAAATATAAAATCACTGTGATTCAGAGCTAAATCCTGAGAAAGGTTTTACAAAATGATCTAAGATTAATGGTTGTATTTAACAGTTCAATAGCAAAATTCAAAATGGAATTATCTAATTGTTTTGAGTTTTTATTTCTGTTTCCGTACAGAAATATTAATTTATTAGTCATTCATAAAGCAGAATCAAAGAGAAATGCAAAACATTTCACTAGCTGATTAAAGCTCAGTAATTATTTAGAGCTCAGATTAATTCTAGGGATCAGAGATTACTGTAGCTTGTGATAATTGACTTGCCATCTTTAAACAGGCTCATTTTCACTGTTGTGTGAAATGAATTTCCTAATAATCACATCGTATTGTAATACTTAATCAAAAGCAATTATGTTATATATTGCAGTTTTAAAAAACCTTATAGAAAAGGTTTCAGCATGCTTGCATACTAAACGGTTTTTAAATCTACTTCATCAATATATATCCATGTACACATATACCTTCTGACAGAATTTCATATACTGTGTTATTTACTTACCTGCCTAATTAAAGATGCATATGTAAATGGTGGTCTAACTTCTGCGTTCTTATAAAATTCTTGGTTCTGCGCAATATCTGCTGAATAAGAATCATTGTCCTATTAATTATCACTTTTTCAAAAGGGGCTGGTCTACAAGAATTGCAGATTACAACTCTACGTGAGGCAAAAGGTGGAGTATCTACCTGACGAAATGGGCACGTTGTATTTGTCTGAGTACCGCCTGCGGATGGGTCCCACCGTGTGCATGCTGGTGGTTGTGATGACAGAGGGGCCTTGGGTGACGGGAGTCAGGGGGGCGGTTGGGGTCGTTGGAGTATGAGGTAAGCTCTGTGGAGAAGCCTCCGATGCGGACTTGGAGAGAGTGACACTTGATACCAGATTCAACTGCAAGGAAAAAAACAACGTCTTAGAAGACCTTCAGAAAACCAGAGCAACCCAGGAACCACATCTAGCAGGAGTAACACAGAGGATGCGTGGGCACCGTTTCTTCCTCTATGTAGATGGTATGTTTACCATGAACCGAAACACACGGTGAGTCCTGCGTGAATTCACTTAGGATGCAGTGTAAGATATCTCTGGCAGCGGTCTCTTTTCCAAAGGCTGCTACATGGGTGTTTACAGGCTCAAAAAGGGGTTACCTACCTGAGGGAGTGTGAGAAACCCTGAGTCAAGACATTTATTTCATTGTGATGTCTCACCTATAGGCTTTGATCGCCCATCAGGCCTTGTCAACCTCAAAGAGGGAGAGAAGTCCTTAGCAATACCAGTGAAGCTGAGTATTTTAGGTGACACCAGTTGGGATACGCTGGTGTAGATCTGAAGAAGTGTCCAGCAGAATTTCTGCAATATGCTAGCACAACCAAAGAGCTGTTTTTACTTGATTTTTATTAAAATTAAACTTTAATAAATGTAAATGGAAAGAGCCCCATGTGGCTAGTAGCTACCATACTAGACAGCCCAGGAAGAGCCTACTGAGCTCCCTCATGCAGCTTCGTGGATGACGAGAACTCCTGCAAATATGTGTGGCCTATTTATTACTCATATTAAACACAATGGGCCTGACCCCACCAGCTGTCATTTGTTTCTATCAATCAATCAATCAGTTGGCAGAAAATAATCCTTAACAGCATTATGAATAACCTTTATTAAATCTATCAAATACAGGCTTGGGATCTGTTAATTTTTTTTATTGTGACATTCTTTTACAGAATACGGGAGATCTGCAACTGAGGTTTTTGATTTTTTTCCTTCAAGTTTTGAATGTTCTATAAAATGGGAAATAATCTGCTTCAAGTTAGGAAATGAATATTACTTATTTGAAGTAGAAGAGAATAAAATAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGTGGGAGGATCTCTTGAGGCCAGGAGTTTGAAACCAGGCTGGACAACATGGTGAAACTCTGTCTCCATTAACGCACACACATACACACACACACAAATTAGCCATGTGTGGTGGCACATGCCTGTAGTCCCAGCTACCTAGGAGGCTGAGGTGGGAAGATAGCTTGAGTCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACCACTGCATTCCAGCCTGGGTGATAGAGTGAGACTCTACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAATAAATTAATGAGCACTGTTTCAATTTATCTTTCTTATCTTCACCTTAAAGTACTGTTCTTACAAATACTAAAAGGCATAACCCTTCCCCAAAATTTGTTGCAACAGAAATATTATTTTACGTCTGGCAATGCTGAAGAATTTGGTTGTTTTCAGCGTATGTATTACTGTTTATGTGCTGTCTCAGATACACAGACCCACCCTAAAATCCAATAAACTTCAGCAAAGTAGGCTTACTTGGTAATATTTTCTCAAACCAGATTTCAAATCACTTACCATAGTAAGTCTATTTCACCAAGTCTAATTCACCATTGCTATAGTCAGTCTTAAGTACAAGGCAGTATTTGTGGAAGGTATTAAAAATGAGATTCCTCTGAGATCATAATCAAAGAACTTATTAAAAGAGAGTTCCAATATGTTGGGAAGACTCGACCTTTACTCACACTCTAGTTAAAAAAAAAAAAAAAGGGAGGGGGGCCTGAGAATCCTCTCTAATATGTTTCAGGAGAGTTTCATAAAAAAGCAATGAACCTGAAGAAAAGAAAGATCAAATATCATGAAGAAATACTAATGGAAAAATGTAAACATGGCGCTGGAAACAGAATGTTGTGAGCTTTGAGTTGTGCTTTCCTTTTTATTTTCAGCGTAGAATGTTG
CCTGGGAATGAGGTAAGCCATATATGACCCCAAGCACTACTGGGGGCATCCAATAAAGAGCTATGCAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCATGCCTGGCTAATTCATTGAATTTTTTTTGTAGAGACAGGGTCTCGCTACGTTGCCCAGGCTGGTCTCTAACTCCTGAGCTCAAGTGATCCTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGCCGACAATCTCTTGACTTAAAACCAAAAAAAGAAAAACAAAAACCCCTGCCCCTTAATAATACATTGTGTTCTCCATTAATAACTCCTACAAACAGTGCTAGTGCTTGGATTGCACAGCTTTCTCTACTAATTGGGTTAATGAGCTATTTATCCAACCATTGAAGGCTGTGTCAAGTTTGGTCATTTCTCCAGGTTCCATCTCTGGAGATAGATCGCTGGAGATACATCTCTGCAAATATCGGCTGTGGCTGAAGACCTAACGGCATGAGGTTTGTGCAAGTAATATGGCAACCTCCACTTCTGGGCGACGGTGTTGTCTCCTTTTCTCTACATATTCCAACCAGAGAGAGATCACTTTACTGGCTGGCCCCTCCACACTGCTGATGCTGGTATAATGGGAGTCTTCCATCAGAGCATTTCAACCACAATGGCACTATTTTCCCAATCAAATACACCTAGAGATTGGACACTTTAAGAGTATCAAAACAATATAAATGTAGCTTCCTTATAGCACAACTGCATTTTATCAACAACAAACTGTTCTATGAACGTCAAGATCCAAGAATAAACAGGCCTGAGAAAGCTTACCTTCCACGTGGCCGCGTTGCGTCGGAAGTAAGCAAACATTCGTGTGAACCAGTTATAGATCTCATTTAGTGTTAGCTGCTTTTCTGGAGATTCGAGAATGGCCTGTGAAGCAGAATGTAACAGAAGATAATTTATGACCAAATCAGCAGAGTCGTCATTCCACAGTTTCTCGAAAATATAAAATCACTGTGATTCAGAGCTAAATCCTGAGAAAGGTTTTACAAAATGATCTAAGATTAATGGTTGTATTTAACAGTTCAATAGCAAAATTCAAAATGGAATTATCTAATTGTTTTGAGTTTTTATTTCTGTTTCCGTACAGAAATATTAATTTATTAGTCATTCATAAAGCAGAATCAAAGAGAAATGCAAAACATTTCACTAGCTGATTAAAGCTCAGTAATTATTTAGAGCTCAGATTAATTCTAGGGATCAGAGATTACTGTAGCTTGTGATAATTGACTTGCCATCTTTAAACAGGCTCATTTTCACTGTTGTGTGAAATGAATTTCCTAATAATCACATCGTATTGTAATACTTAATCAAAAGCAATTATGTTATATATTGCAGTTTTAAAAAACCTTATAGAAAAGGTTTCAGCATGCTTGCATACTAAACGGTTTTTAAATCTACTTCATCAATATATATCCATGTACACATATACCTTCTGACAGAATTTCATATACTGTGTTATTTACTTACCTGCCTAATTAAAGATGCATATGTAAATGGTGGTCTAACTTCTGCGTTCTTATAAAATTCTTGGTTCTGCGCAATATCTGCTGAATAAGAATCATTGTCCTATTAATTATCACTTTTTCAAAAGGGGCTGGTCTACAAGAATTGCAGATTACAACTCTACGTGAGGCAAAAGGTGGAGTATCTACCTGACGAAATGGGCACGTTGTATTTGTCTGAGTACCGCCTGCGGATGGGTCCCACCGTGTGCATGCTGGTGGTTGTGATGACAGAGGGGCCTTGGGTGACGGGAGTCAGGGGGGGCGGTTGGGGTCGTTGGAGTATGAGGTAAGCTCTGTGGAGAAGCCTCCGATGCGGACTTGGAGAGAGTGACACTTGATACCAGATTCAACTGCAAGGAAAAAAACAACGTCTTAGAAGACCTTCAGAAAACCAGAGCAACCCAGGAACCACATCTAGCAGGAGTAACACAGAGGATGCGTGGGCACCGTTTCTTCCTCTATGTAGATGGTATGTTTACCATGAACCGAAACACACGGTGAGTCCTGCGTGAATTCACTTAGGATGCAGTGTAAGATATCTCTGGCAGCGGTCTCTTTTCCAAAGGCTGCTACATGGGTGTTTACAGGCTCAAAAAGGGGTTACCTACCTGAGGGAGTGTGAGAAACCCTGAGTCAAGACATTTATTTCATTGTGATGTCTCACCTATAGGCTTTGATCGCCCATCAGGCCTTGTCAACCTCAAAGAGGGAGAGAAGTCCTTAGCAATACCAGTGAAGCTGAGTATTTTAGGTGACACCAGTTGGGATACGCTGGTGTAGATCTGAAGAAGTGTCCAGCAGAATTTCTGCAATATGCTAGCACAACCAAAGAGCTGTTTTTACTTGATTTTTATTAAAATTAAACTTTAATAAATGTAAATGGAAAGAGCCCCATGTGGCTAGTAGCTACCATACTAGACAGCCCAGGAAGAGCCTACTGAGCTCCCTCATGCAGCTTCGTGGATGACGAGAACTCCTGCAAATATGTGTGGCCTATTTATTACTCATATTAAACACAATGGGCCTGACCCCACCAGCTGTCATTTGTTTCTATCAATCAATCAATCAGTTGGCAGAAAATAATCCTTAACAGCATTATGAATAACCTTTATTAAATCTATCAAATACAGGCTTGGGATCTGTTAATTTTTTTTATTGTGACATTCTTTTACAGAATACGGGAGATCTGCAACTGAGGTTTTTGATTTTTTTCCTTCAAGTTTTGAATGTTCTATAAAATGGGAAATAATCTGCTTCAAGTTAGGAAATGAATATTACTTATTTGAAGTAGAAGAGAATAAAATAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGTGGGAGGATCTCTTGAGGCCAGGAGTTTGAAACCAGGCTGGACAACATGGTGAAACTCTGTCTCCATTAACGCACACACATACACACACACACAAATTAGCCATGTGTGGTGGCACATGCCTGTAGTCCCAGCTACCTAGGAGGCTGAGGTGGGAAGATAGCTTGAGTCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACCACTGCATTCCAGCCTGGGTGATAGAGTGAGACTCTACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAATAAATTAATGAGCACTGTTTCAATTTATCTTTCTTATCTTCACCTTAAAGTACTGTTCTTACAAATACTAAAAGGCATAACCCTTCCCCAAAATTTGTTGCAACAGAAATATTATTTTACGTCTGGCAATGCTGAAGAATTTGGTTGTTTTCAGCGTATGTATTACTGTTTATGTGCTGTCTCAGATACACAGACCCACCCTAAAATCCAATAAACTTCAGCAAAGTAGGCTTACTTGGTAATATTTTCTCAAACCAGATTTCAAATCACTTACCATAGTAAGTCTATTTCACCAAGTCTAATTCACCATTGCTATAGTCAGTCTTAAGTACAAGGCAGTATTTGTGGAAGGTATTAAAAATGAGATTCCTCTGAGATCATAATCAAAGAACTTATTAAAAGAGAGTTCCAATATGTTGGGAAGACTCGACCTTTACTCACACTCTAGTTAAAAAAAAAAAAAAAGGGAGGGGGGCCTGAGAATCCTCTCTAATATGTTTCAGGAGAGTTTCATAAAAAAGCAATGAACCTGAAGAAAAGAAAGATCAAATATCATGAAGAAATACTAATGGAAAAATGTAAACATGGCGCTGGAAACAGAATGTTGTGAGCTTTGAGTTGTGCTTTCCTTTTTATTTTCAGCGTAGAATGTT
pathogenic
71,165
For chromosome 3, position 70978000, gene FOXP1 (forkhead box P1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Intellectual_disability-severe_speech_delay-mild_dysmorphism_syndrome']
CAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCATGCCTGGCTAATTCATTGAATTTTTTTTGTAGAGACAGGGTCTCGCTACGTTGCCCAGGCTGGTCTCTAACTCCTGAGCTCAAGTGATCCTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGCCGACAATCTCTTGACTTAAAACCAAAAAAAGAAAAACAAAAACCCCTGCCCCTTAATAATACATTGTGTTCTCCATTAATAACTCCTACAAACAGTGCTAGTGCTTGGATTGCACAGCTTTCTCTACTAATTGGGTTAATGAGCTATTTATCCAACCATTGAAGGCTGTGTCAAGTTTGGTCATTTCTCCAGGTTCCATCTCTGGAGATAGATCGCTGGAGATACATCTCTGCAAATATCGGCTGTGGCTGAAGACCTAACGGCATGAGGTTTGTGCAAGTAATATGGCAACCTCCACTTCTGGGCGACGGTGTTGTCTCCTTTTCTCTACATATTCCAACCAGAGAGAGATCACTTTACTGGCTGGCCCCTCCACACTGCTGATGCTGGTATAATGGGAGTCTTCCATCAGAGCATTTCAACCACAATGGCACTATTTTCCCAATCAAATACACCTAGAGATTGGACACTTTAAGAGTATCAAAACAATATAAATGTAGCTTCCTTATAGCACAACTGCATTTTATCAACAACAAACTGTTCTATGAACGTCAAGATCCAAGAATAAACAGGCCTGAGAAAGCTTACCTTCCACGTGGCCGCGTTGCGTCGGAAGTAAGCAAACATTCGTGTGAACCAGTTATAGATCTCATTTAGTGTTAGCTGCTTTTCTGGAGATTCGAGAATGGCCTGTGAAGCAGAATGTAACAGAAGATAATTTATGACCAAATCAGCAGAGTCGTCATTCCACAGTTTCTCGAAAATATAAAATCACTGTGATTCAGAGCTAAATCCTGAGAAAGGTTTTACAAAATGATCTAAGATTAATGGTTGTATTTAACAGTTCAATAGCAAAATTCAAAATGGAATTATCTAATTGTTTTGAGTTTTTATTTCTGTTTCCGTACAGAAATATTAATTTATTAGTCATTCATAAAGCAGAATCAAAGAGAAATGCAAAACATTTCACTAGCTGATTAAAGCTCAGTAATTATTTAGAGCTCAGATTAATTCTAGGGATCAGAGATTACTGTAGCTTGTGATAATTGACTTGCCATCTTTAAACAGGCTCATTTTCACTGTTGTGTGAAATGAATTTCCTAATAATCACATCGTATTGTAATACTTAATCAAAAGCAATTATGTTATATATTGCAGTTTTAAAAAACCTTATAGAAAAGGTTTCAGCATGCTTGCATACTAAACGGTTTTTAAATCTACTTCATCAATATATATCCATGTACACATATACCTTCTGACAGAATTTCATATACTGTGTTATTTACTTACCTGCCTAATTAAAGATGCATATGTAAATGGTGGTCTAACTTCTGCGTTCTTATAAAATTCTTGGTTCTGCGCAATATCTGCTGAATAAGAATCATTGTCCTATTAATTATCACTTTTTCAAAAGGGGCTGGTCTACAAGAATTGCAGATTACAACTCTACGTGAGGCAAAAGGTGGAGTATCTACCTGACGAAATGGGCACGTTGTATTTGTCTGAGTACCGCCTGCGGATGGGTCCCACCGTGTGCATGCTGGTGGTTGTGATGACAGAGGGGCCTTGGGTGACGGGAGTCAGGGGGGCGGTTGGGGTCGTTGGAGTATGAGGTAAGCTCTGTGGAGAAGCCTCCGATGCGGACTTGGAGAGAGTGACACTTGATACCAGATTCAACTGCAAGGAAAAAAACAACGTCTTAGAAGACCTTCAGAAAACCAGAGCAACCCAGGAACCACATCTAGCAGGAGTAACACAGAGGATGCGTGGGCACCGTTTCTTCCTCTATGTAGATGGTATGTTTACCATGAACCGAAACACACGGTGAGTCCTGCGTGAATTCACTTAGGATGCAGTGTAAGATATCTCTGGCAGCGGTCTCTTTTCCAAAGGCTGCTACATGGGTGTTTACAGGCTCAAAAAGGGGTTACCTACCTGAGGGAGTGTGAGAAACCCTGAGTCAAGACATTTATTTCATTGTGATGTCTCACCTATAGGCTTTGATCGCCCATCAGGCCTTGTCAACCTCAAAGAGGGAGAGAAGTCCTTAGCAATACCAGTGAAGCTGAGTATTTTAGGTGACACCAGTTGGGATACGCTGGTGTAGATCTGAAGAAGTGTCCAGCAGAATTTCTGCAATATGCTAGCACAACCAAAGAGCTGTTTTTACTTGATTTTTATTAAAATTAAACTTTAATAAATGTAAATGGAAAGAGCCCCATGTGGCTAGTAGCTACCATACTAGACAGCCCAGGAAGAGCCTACTGAGCTCCCTCATGCAGCTTCGTGGATGACGAGAACTCCTGCAAATATGTGTGGCCTATTTATTACTCATATTAAACACAATGGGCCTGACCCCACCAGCTGTCATTTGTTTCTATCAATCAATCAATCAGTTGGCAGAAAATAATCCTTAACAGCATTATGAATAACCTTTATTAAATCTATCAAATACAGGCTTGGGATCTGTTAATTTTTTTTATTGTGACATTCTTTTACAGAATACGGGAGATCTGCAACTGAGGTTTTTGATTTTTTTCCTTCAAGTTTTGAATGTTCTATAAAATGGGAAATAATCTGCTTCAAGTTAGGAAATGAATATTACTTATTTGAAGTAGAAGAGAATAAAATAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGTGGGAGGATCTCTTGAGGCCAGGAGTTTGAAACCAGGCTGGACAACATGGTGAAACTCTGTCTCCATTAACGCACACACATACACACACACACAAATTAGCCATGTGTGGTGGCACATGCCTGTAGTCCCAGCTACCTAGGAGGCTGAGGTGGGAAGATAGCTTGAGTCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACCACTGCATTCCAGCCTGGGTGATAGAGTGAGACTCTACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAATAAATTAATGAGCACTGTTTCAATTTATCTTTCTTATCTTCACCTTAAAGTACTGTTCTTACAAATACTAAAAGGCATAACCCTTCCCCAAAATTTGTTGCAACAGAAATATTATTTTACGTCTGGCAATGCTGAAGAATTTGGTTGTTTTCAGCGTATGTATTACTGTTTATGTGCTGTCTCAGATACACAGACCCACCCTAAAATCCAATAAACTTCAGCAAAGTAGGCTTACTTGGTAATATTTTCTCAAACCAGATTTCAAATCACTTACCATAGTAAGTCTATTTCACCAAGTCTAATTCACCATTGCTATAGTCAGTCTTAAGTACAAGGCAGTATTTGTGGAAGGTATTAAAAATGAGATTCCTCTGAGATCATAATCAAAGAACTTATTAAAAGAGAGTTCCAATATGTTGGGAAGACTCGACCTTTACTCACACTCTAGTTAAAAAAAAAAAAAAAGGGAGGGGGGCCTGAGAATCCTCTCTAATATGTTTCAGGAGAGTTTCATAAAAAAGCAATGAACCTGAAGAAAAGAAAGATCAAATATCATGAAGAAATACTAATGGAAAAATGTAAACATGGCGCTGGAAACAGAATGTTGTGAGCTTTGAGTTGTGCTTTCCTTTTTATTTTCAGCGTAGAATGTTGTCTCGGTGAGCAAGAGACAATGCCTGCGAAGAGCAAGCTCTGGAGATGGCACTGCCCTTACAAAT
CAATTTGACTTGTTTTTACAGCAAATAGTATTATAATGAATATAATGAAGTTCGAAATCTACTTTTCTTCCTTAGTATATCTATGAGGGACAATCTCCTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGAACAGGGCTCACTGCAGCCTCAACCTCCTTGCCTCAAGCAATCGTCCCACCTCTGCCTCTGGAGTAGCTGTTGACCACAGGTGCATGCCACCATGCCTGGCTAATTCATTGAATTTTTTTTGTAGAGACAGGGTCTCGCTACGTTGCCCAGGCTGGTCTCTAACTCCTGAGCTCAAGTGATCCTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGCCGACAATCTCTTGACTTAAAACCAAAAAAAGAAAAACAAAAACCCCTGCCCCTTAATAATACATTGTGTTCTCCATTAATAACTCCTACAAACAGTGCTAGTGCTTGGATTGCACAGCTTTCTCTACTAATTGGGTTAATGAGCTATTTATCCAACCATTGAAGGCTGTGTCAAGTTTGGTCATTTCTCCAGGTTCCATCTCTGGAGATAGATCGCTGGAGATACATCTCTGCAAATATCGGCTGTGGCTGAAGACCTAACGGCATGAGGTTTGTGCAAGTAATATGGCAACCTCCACTTCTGGGCGACGGTGTTGTCTCCTTTTCTCTACATATTCCAACCAGAGAGAGATCACTTTACTGGCTGGCCCCTCCACACTGCTGATGCTGGTATAATGGGAGTCTTCCATCAGAGCATTTCAACCACAATGGCACTATTTTCCCAATCAAATACACCTAGAGATTGGACACTTTAAGAGTATCAAAACAATATAAATGTAGCTTCCTTATAGCACAACTGCATTTTATCAACAACAAACTGTTCTATGAACGTCAAGATCCAAGAATAAACAGGCCTGAGAAAGCTTACCTTCCACGTGGCCGCGTTGCGTCGGAAGTAAGCAAACATTCGTGTGAACCAGTTATAGATCTCATTTAGTGTTAGCTGCTTTTCTGGAGATTCGAGAATGGCCTGTGAAGCAGAATGTAACAGAAGATAATTTATGACCAAATCAGCAGAGTCGTCATTCCACAGTTTCTCGAAAATATAAAATCACTGTGATTCAGAGCTAAATCCTGAGAAAGGTTTTACAAAATGATCTAAGATTAATGGTTGTATTTAACAGTTCAATAGCAAAATTCAAAATGGAATTATCTAATTGTTTTGAGTTTTTATTTCTGTTTCCGTACAGAAATATTAATTTATTAGTCATTCATAAAGCAGAATCAAAGAGAAATGCAAAACATTTCACTAGCTGATTAAAGCTCAGTAATTATTTAGAGCTCAGATTAATTCTAGGGATCAGAGATTACTGTAGCTTGTGATAATTGACTTGCCATCTTTAAACAGGCTCATTTTCACTGTTGTGTGAAATGAATTTCCTAATAATCACATCGTATTGTAATACTTAATCAAAAGCAATTATGTTATATATTGCAGTTTTAAAAAACCTTATAGAAAAGGTTTCAGCATGCTTGCATACTAAACGGTTTTTAAATCTACTTCATCAATATATATCCATGTACACATATACCTTCTGACAGAATTTCATATACTGTGTTATTTACTTACCTGCCTAATTAAAGATGCATATGTAAATGGTGGTCTAACTTCTGCGTTCTTATAAAATTCTTGGTTCTGCGCAATATCTGCTGAATAAGAATCATTGTCCTATTAATTATCACTTTTTCAAAAGGGGCTGGTCTACAAGAATTGCAGATTACAACTCTACGTGAGGCAAAAGGTGGAGTATCTACCTGACGAAATGGGCACGTTGTATTTGTCTGAGTACCGCCTGCGGATGGGTCCCACCGTGTGCATGCTGGTGGTTGTGATGACAGAGGGGCCTTGGGTGACGGGAGTCAGGGGGGCGGTTGGGGTCGTTGGAGTATGAGGTAAGCTCTGTGGAGAAGCCTCCGATGCGGACTTGGAGTGACACTTGATACCAGATTCAACTGCAAGGAAAAAAACAACGTCTTAGAAGACCTTCAGAAAACCAGAGCAACCCAGGAACCACATCTAGCAGGAGTAACACAGAGGATGCGTGGGCACCGTTTCTTCCTCTATGTAGATGGTATGTTTACCATGAACCGAAACACACGGTGAGTCCTGCGTGAATTCACTTAGGATGCAGTGTAAGATATCTCTGGCAGCGGTCTCTTTTCCAAAGGCTGCTACATGGGTGTTTACAGGCTCAAAAAGGGGTTACCTACCTGAGGGAGTGTGAGAAACCCTGAGTCAAGACATTTATTTCATTGTGATGTCTCACCTATAGGCTTTGATCGCCCATCAGGCCTTGTCAACCTCAAAGAGGGAGAGAAGTCCTTAGCAATACCAGTGAAGCTGAGTATTTTAGGTGACACCAGTTGGGATACGCTGGTGTAGATCTGAAGAAGTGTCCAGCAGAATTTCTGCAATATGCTAGCACAACCAAAGAGCTGTTTTTACTTGATTTTTATTAAAATTAAACTTTAATAAATGTAAATGGAAAGAGCCCCATGTGGCTAGTAGCTACCATACTAGACAGCCCAGGAAGAGCCTACTGAGCTCCCTCATGCAGCTTCGTGGATGACGAGAACTCCTGCAAATATGTGTGGCCTATTTATTACTCATATTAAACACAATGGGCCTGACCCCACCAGCTGTCATTTGTTTCTATCAATCAATCAATCAGTTGGCAGAAAATAATCCTTAACAGCATTATGAATAACCTTTATTAAATCTATCAAATACAGGCTTGGGATCTGTTAATTTTTTTTATTGTGACATTCTTTTACAGAATACGGGAGATCTGCAACTGAGGTTTTTGATTTTTTTCCTTCAAGTTTTGAATGTTCTATAAAATGGGAAATAATCTGCTTCAAGTTAGGAAATGAATATTACTTATTTGAAGTAGAAGAGAATAAAATAGGCCGGGCATGGTGGCTCACACCTGTAATCCCAGCACCTTGGGAGGCTGAGGTGGGAGGATCTCTTGAGGCCAGGAGTTTGAAACCAGGCTGGACAACATGGTGAAACTCTGTCTCCATTAACGCACACACATACACACACACACAAATTAGCCATGTGTGGTGGCACATGCCTGTAGTCCCAGCTACCTAGGAGGCTGAGGTGGGAAGATAGCTTGAGTCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACCACTGCATTCCAGCCTGGGTGATAGAGTGAGACTCTACCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAATAAATTAATGAGCACTGTTTCAATTTATCTTTCTTATCTTCACCTTAAAGTACTGTTCTTACAAATACTAAAAGGCATAACCCTTCCCCAAAATTTGTTGCAACAGAAATATTATTTTACGTCTGGCAATGCTGAAGAATTTGGTTGTTTTCAGCGTATGTATTACTGTTTATGTGCTGTCTCAGATACACAGACCCACCCTAAAATCCAATAAACTTCAGCAAAGTAGGCTTACTTGGTAATATTTTCTCAAACCAGATTTCAAATCACTTACCATAGTAAGTCTATTTCACCAAGTCTAATTCACCATTGCTATAGTCAGTCTTAAGTACAAGGCAGTATTTGTGGAAGGTATTAAAAATGAGATTCCTCTGAGATCATAATCAAAGAACTTATTAAAAGAGAGTTCCAATATGTTGGGAAGACTCGACCTTTACTCACACTCTAGTTAAAAAAAAAAAAAAAGGGAGGGGGGCCTGAGAATCCTCTCTAATATGTTTCAGGAGAGTTTCATAAAAAAGCAATGAACCTGAAGAAAAGAAAGATCAAATATCATGAAGAAATACTAATGGAAAAATGTAAACATGGCGCTGGAAACAGAATGTTGTGAGCTTTGAGTTGTGCTTTCCTTTTTATTTTCAGCGTAGAATGTTGTCTCGGTGAGCAAGAGACAATGCCTGCGAAGAGCAAGCTCTGGAGATGGCACTGCCCTTACAAATNNNN
pathogenic
71,169
Determine if the mutation at chromosome 3, position 70987981 in gene FOXP1 (forkhead box P1) is benign or pathogenic. If pathogenic, what disease(s) is associated?
benign
AATTCAAAAGCTATTAATTTTTCAGTCAAAAATATTCGTGCCGATTTCTTCTAATAAAGAAATACTGTGCTGAGCTACTAAGAGATAATGTTGACTAGTGGTAGAGAATTTTCAATAGAGCAGTTAAAAATAAATTTAGTAGGAGGTCCCCTTCAAAGTTACAATTTTCTAGAAAGTAAAACATTTTTTTTTAATACTAATCAAGACAAACCTTCCATCCCTGTTCACTTCCCCCCATGCTTTTCCCTGTTTACCAGCTGCTTAACACTGGTCCACGTGAAGAATCCCAATGGTCCTTTTGTGGCCCACAGGGGCTTACACACATGGTGCTCTCTGCCAACACCCAGCCCGGTCACTCGCCAAGCGCCCTACGGGGTTTTGTAGTTCCTTATCTTTAATTGTATCCTTCCTCTTCCCAAGAAGCCCCAAGATCCAGGCCTACAGTGCTGGGTCCAACCATTATCCTATCACTGTTTTTAATCCGTGGAGGAAGACAGAGATAATCTCATTCTCTCGCTTGCTGCTAGGTGCAAAGATTTGAACCCTTCAATCTGGGAAAACCATTTCACTAAAGCCATCTGAAGACTTTCAAAAAGTTCCAAGGCAGTGAATGCCCTGTGCAATTGGCTATGCTTCTTCGAGATGACTTCAGCCAAGTTGTCTCAGAGGCTCACCATTTTGCTTAGCTGGGTTCTAGAAGGAGGGGTTGCTAGAAATAGCACAGCTGACTACTGATGCCACAACAGTGAATGACCTGGTTCTTTTTTTTCCTTTCTTTTTGGTAGCCTACACATCTAGTCCTATAGCCATTTACTGTAAAATAATACACGGAAACTAAGGACTCCTTCCTGGTAAAAATGGATGCACGAAGTGTTTAATAATTTTATGTCCTTTATCTCAGTAATGTGTTCTGTTTCAGACATTAATTTTGCCTGCCAACTGCATCTTGGCAGGCTACCATATTTGCTGGGTTAATAGTCTGACTCCGTTTTATTTCTATCACCATAAATCATACATATATGGGTGTATGTTTGCTTTATTTATAGAAAAAAATCAGTCAAAACAGATAAACCAATACTTTGCCATTACGCTGCATCATTGCATATTGATTAAAATCGCTGGTACTAACTATAGATTGTCAACGCTCAATTAATTTTCACACAGTGACTCCAAGCAAAATCAAATAAAGGCAGTGTACCTTTAAATTTTACAAATCTTAAAATCAAGAAGCAAAGCACTGTCTCCATTTTGAATAATCAGTTAAAGCTACTAGGAGAATTTTAGAAACGTAAGAGGAATATGACCGTTAAAGAGATCGATTTATTACAAGGAAGGAGGTCCAAGACAAACTTTTAGGTTCAGACACGATCCTTCTGCTTCGGTATTAACAGCCTGTGCTGGGATGACACCCTTCAAGGTCCAGTAAAAGGGAATAAGGCAAGAAAGAGGAGATTCTTACAAATTAAATGTAATTTCAGTATACTGTGTTTGGTCTCCTAACTGTGAAGGAATAATTTTCATTTCAAACTCCTTAGTAACCATTAGAGCCTCTCCATAATTTAGCCTCTGACTATTCCAACACTAGGTTTCCTATGTCTTTCCTCTGTTAAGAGTTAGACTGGACTACTACTCCCTGCTCTTTTTCCTACACACCACTGTCTCTCAGCTTACCCGAGCTGAAATGCCTCTTTGCTTTGCTGTCATGGTTTAGCTGTCTTCTCTGCGTTCCTACCATTCAGAAAGATTTTCTTTTTCCAGGGAGCTCTCATAATGTATTTCAGTACCTTGCTTGGGCACCAATCATTCTGCCTTTAAAGAAGAGCTGGGTGCTTGAGTCTTATGGGCAAGGACCATATCTGAATCATCCTGTATCTCCCCAAATGCCTAGCATATGACCTTCATCATAAAGGATAACCAGAAACAGTCGCATGAATCTAAGGCCCTCAAAACTCAAAGCTCCACCAAAGTAGGCTGGTCCTCCTTCCTCCATTTGGGGTGGGGAAGTAGAAAAGGAATACTGTGAGTTTTGTTTTTTTCCCCTTGGTGGGGATCAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGGCTCTTAACACCAAAAATGATACATATTACAAATTACGCTATGGCACCACAGCACATGATAAAATCATTTTCATTGCTTGTTTTTGAAATCTACATGACCATTGCCAAACTCGAAGTAACCGGAGGTGTTGGTGTGAGATTTCTCAACACAAGATGCATTAGACTTTAACTGGGAAGTTCTAGACCTGCTGGCACCACGCAGTCCCATGGAACACAGACAGCTAAAAGACAAATGTGAATCATGCCTATTAACCAACCTTATTCATGAGAAAAGCCAAGGGAAAGTGAGCTAGGTAGCTAAAACCCATAAATTCATCTGTTGTGGTTGTGGAAAAACTCCTAGACAGATGGATACATTTATGCAAAATTAGCTTCATCTTTCTTAACAGGTAGGCATAGATTAAGACAGTGCTGGCAAATGATATTAGCAGGCCAGGAGCAGGCTCCAAGGGATGACAGGTTCCCATTTTCAAACGAGTGTAGAACAAGCTTGCTCATTCAATTTACTCAAGATTTGAGTACCTGCTATGTGCTAGTCTCATCTTAATAATTTAAGTCTCCTTATTCTATAAAAAAAGATCTTCTGAAGTCACACAAGTTTCTAATTGGATATACATAGTAGGCACTCAAATACTACTGATTGGAAGCTACATCCTTTATGCTTCGCTTGGACTGCTTTAACTCGATATTTTCAATAGTTCAAGACAGTTGGGCATAGGGGACACATAACGATTACTTCTGTAAAAGAAGTGGGAAATATATCCCCTAAAGATAAAGGGATAGTCAAGAGAACAGCTGTGGCATTTAGGGAAGATGGAGAAGAGATTAATATGAGAGAGAGAGAGGAGAGAGGGAGAGAATACAGTTTAATTTCAATACTTTGGTACATCATTTGTCCAAAATAATGCCTTAGATTTAAGGAGGGACTCATTAGTTCTGTCACATAATTAACCTTAAATCCTTTAAAAATAAAGTTTTTTAAAGTCAAATTATTCCCAAATAAAAAAACAAATATAGTTTATCTATTTAAATACAGTTATTTTCTAAGGAAGAAGGGGGACAGGGGTCGGGGATTGTGGAAAGATGGAGAAAAGGGAAACCGTACAAAAGGGAGAAGGGAAAAAGCTTTCAGCTTATCCCTACTGGATGACTCAGTCTCCAGCCATATCACATTTGATTTTTTTTTTCTTTTTATTCCCTTGTGGTTCAGGGAGGAATAAATTAAGAAAGAAAGAAAAAAACAGCCGTACAGTGTTAGCATTTATCTTTCAACAAACAGGAAATGAAAATGATACCATATTAGGAGCCACTTGATGGTATTCCTCCTCTGTTCTTTAGTAAGTTATTGAACAGCCAAACTAAAAGATTCTCTGAACACATAATGCTAAAGGAATTTAGTTTTCCAAAGAGGCTTAGAACAATTAAAATGTTGGGAATGCTATTTTTCTGCCATTATTATTATTTTTTTTAAAATGTAAGTATCCTAAGCTTTTTGATGTCAAATACTCAGACTTTTTAAGAAATGTTTTGTTTTAAAGTTATCAAAGGCCAGAAGGAATTAAGAAATCAGTTGTATTTTTCTTAAAAACAAGCAGTAGTCTGTCATGCTGAACAATACAAATTAAAGGGTGAGAGGTGATATTTACTGAAGTCTGCTGAATATTAATTGTGACTTAATTTGGGGGTAAACGTTGTTGATGTAGCAATTATACCTTGTACCACTAAGTGTGGTATAAGGAAAATCCAAATCCTGGGCATTTAAAGGAAACATCTTCTCCATATTTCCATCCAAATGTCTACCAAACTGATCTTTTACTGGTCAGCCAAAGGTAGCAACACTACATTGCAAACACATACCTAGAATTTGTATACACAGCCACTTTCATAAACCCTGGAAGTAACTG
AATTCAAAAGCTATTAATTTTTCAGTCAAAAATATTCGTGCCGATTTCTTCTAATAAAGAAATACTGTGCTGAGCTACTAAGAGATAATGTTGACTAGTGGTAGAGAATTTTCAATAGAGCAGTTAAAAATAAATTTAGTAGGAGGTCCCCTTCAAAGTTACAATTTTCTAGAAAGTAAAACATTTTTTTTTAATACTAATCAAGACAAACCTTCCATCCCTGTTCACTTCCCCCCATGCTTTTCCCTGTTTACCAGCTGCTTAACACTGGTCCACGTGAAGAATCCCAATGGTCCTTTTGTGGCCCACAGGGGCTTACACACATGGTGCTCTCTGCCAACACCCAGCCCGGTCACTCGCCAAGCGCCCTACGGGGTTTTGTAGTTCCTTATCTTTAATTGTATCCTTCCTCTTCCCAAGAAGCCCCAAGATCCAGGCCTACAGTGCTGGGTCCAACCATTATCCTATCACTGTTTTTAATCCGTGGAGGAAGACAGAGATAATCTCATTCTCTCGCTTGCTGCTAGGTGCAAAGATTTGAACCCTTCAATCTGGGAAAACCATTTCACTAAAGCCATCTGAAGACTTTCAAAAAGTTCCAAGGCAGTGAATGCCCTGTGCAATTGGCTATGCTTCTTCGAGATGACTTCAGCCAAGTTGTCTCAGAGGCTCACCATTTTGCTTAGCTGGGTTCTAGAAGGAGGGGTTGCTAGAAATAGCACAGCTGACTACTGATGCCACAACAGTGAATGACCTGGTTCTTTTTTTTCCTTTCTTTTTGGTAGCCTACACATCTAGTCCTATAGCCATTTACTGTAAAATAATACACGGAAACTAAGGACTCCTTCCTGGTAAAAATGGATGCACGAAGTGTTTAATAATTTTATGTCCTTTATCTCAGTAATGTGTTCTGTTTCAGACATTAATTTTGCCTGCCAACTGCATCTTGGCAGGCTACCATATTTGCTGGGTTAATAGTCTGACTCCGTTTTATTTCTATCACCATAAATCATACATATATGGGTGTATGTTTGCTTTATTTATAGAAAAAAATCAGTCAAAACAGATAAACCAATACTTTGCCATTACGCTGCATCATTGCATATTGATTAAAATCGCTGGTACTAACTATAGATTGTCAACGCTCAATTAATTTTCACACAGTGACTCCAAGCAAAATCAAATAAAGGCAGTGTACCTTTAAATTTTACAAATCTTAAAATCAAGAAGCAAAGCACTGTCTCCATTTTGAATAATCAGTTAAAGCTACTAGGAGAATTTTAGAAACGTAAGAGGAATATGACCGTTAAAGAGATCGATTTATTACAAGGAAGGAGGTCCAAGACAAACTTTTAGGTTCAGACACGATCCTTCTGCTTCGGTATTAACAGCCTGTGCTGGGATGACACCCTTCAAGGTCCAGTAAAAGGGAATAAGGCAAGAAAGAGGAGATTCTTACAAATTAAATGTAATTTCAGTATACTGTGTTTGGTCTCCTAACTGTGAAGGAATAATTTTCATTTCAAACTCCTTAGTAACCATTAGAGCCTCTCCATAATTTAGCCTCTGACTATTCCAACACTAGGTTTCCTATGTCTTTCCTCTGTTAAGAGTTAGACTGGACTACTACTCCCTGCTCTTTTTCCTACACACCACTGTCTCTCAGCTTACCCGAGCTGAAATGCCTCTTTGCTTTGCTGTCATGGTTTAGCTGTCTTCTCTGCGTTCCTACCATTCAGAAAGATTTTCTTTTTCCAGGGAGCTCTCATAATGTATTTCAGTACCTTGCTTGGGCACCAATCATTCTGCCTTTAAAGAAGAGCTGGGTGCTTGAGTCTTATGGGCAAGGACCATATCTGAATCATCCTGTATCTCCCCAAATGCCTAGCATATGACCTTCATCATAAAGGATAACCAGAAACAGTCGCATGAATCTAAGGCCCTCAAAACTCAAAGCTCCACCAAAGTAGGCTGGTCCTCCTTCCTCCATTTGGGGTGGGGAAGTAGAAAAGGAATACTGTGAGTTTTGTTTTTTTCCCCTTGGTGGGGAATACTTACGGGCTGAGGGGCGGCTTTGGGTTCTGTAGACTTCACATGCAGGTGGGTCATCATGGCTTGCAGGCGTTCTTTGTCTTTTGCAAGCTGGCAAGAAGAAAATGCTTTGTTATTTCTCTGAATAAAGATGCATGGCTCTTAACACCAAAAATGATACATATTACAAATTACGCTATGGCACCACAGCACATGATAAAATCATTTTCATTGCTTGTTTTTGAAATCTACATGACCATTGCCAAACTCGAAGTAACCGGAGGTGTTGGTGTGAGATTTCTCAACACAAGATGCATTAGACTTTAACTGGGAAGTTCTAGACCTGCTGGCACCACGCAGTCCCATGGAACACAGACAGCTAAAAGACAAATGTGAATCATGCCTATTAACCAACCTTATTCATGAGAAAAGCCAAGGGAAAGTGAGCTAGGTAGCTAAAACCCATAAATTCATCTGTTGTGGTTGTGGAAAAACTCCTAGACAGATGGATACATTTATGCAAAATTAGCTTCATCTTTCTTAACAGGTAGGCATAGATTAAGACAGTGCTGGCAAATGATATTAGCAGGCCAGGAGCAGGCTCCAAGGGATGACAGGTTCCCATTTTCAAACGAGTGTAGAACAAGCTTGCTCATTCAATTTACTCAAGATTTGAGTACCTGCTATGTGCTAGTCTCATCTTAATAATTTAAGTCTCCTTATTCTATAAAAAAAGATCTTCTGAAGTCACACAAGTTTCTAATTGGATATACATAGTAGGCACTCAAATACTACTGATTGGAAGCTACATCCTTTATGCTTCGCTTGGACTGCTTTAACTCGATATTTTCAATAGTTCAAGACAGTTGGGCATAGGGGACACATAACGATTACTTCTGTAAAAGAAGTGGGAAATATATCCCCTAAAGATAAAGGGATAGTCAAGAGAACAGCTGTGGCATTTAGGGAAGATGGAGAAGAGATTAATATGAGAGAGAGAGAGGAGAGAGGGAGAGAATACAGTTTAATTTCAATACTTTGGTACATCATTTGTCCAAAATAATGCCTTAGATTTAAGGAGGGACTCATTAGTTCTGTCACATAATTAACCTTAAATCCTTTAAAAATAAAGTTTTTTAAAGTCAAATTATTCCCAAATAAAAAAACAAATATAGTTTATCTATTTAAATACAGTTATTTTCTAAGGAAGAAGGGGGACAGGGGTCGGGGATTGTGGAAAGATGGAGAAAAGGGAAACCGTACAAAAGGGAGAAGGGAAAAAGCTTTCAGCTTATCCCTACTGGATGACTCAGTCTCCAGCCATATCACATTTGATTTTTTTTTTCTTTTTATTCCCTTGTGGTTCAGGGAGGAATAAATTAAGAAAGAAAGAAAAAAACAGCCGTACAGTGTTAGCATTTATCTTTCAACAAACAGGAAATGAAAATGATACCATATTAGGAGCCACTTGATGGTATTCCTCCTCTGTTCTTTAGTAAGTTATTGAACAGCCAAACTAAAAGATTCTCTGAACACATAATGCTAAAGGAATTTAGTTTTCCAAAGAGGCTTAGAACAATTAAAATGTTGGGAATGCTATTTTTCTGCCATTATTATTATTTTTTTTAAAATGTAAGTATCCTAAGCTTTTTGATGTCAAATACTCAGACTTTTTAAGAAATGTTTTGTTTTAAAGTTATCAAAGGCCAGAAGGAATTAAGAAATCAGTTGTATTTTTCTTAAAAACAAGCAGTAGTCTGTCATGCTGAACAATACAAATTAAAGGGTGAGAGGTGATATTTACTGAAGTCTGCTGAATATTAATTGTGACTTAATTTGGGGGTAAACGTTGTTGATGTAGCAATTATACCTTGTACCACTAAGTGTGGTATAAGGAAAATCCAAATCCTGGGCATTTAAAGGAAACATCTTCTCCATATTTCCATCCAAATGTCTACCAAACTGATCTTTTACTGGTCAGCCAAAGGTAGCAACACTACATTGCAAACACATACCTAGAATTTGTATACACAGCCACTTTCATAAACCCTGGAAGTAACTGNNN
benign
71,173
Classify the chromosome 3 variant at position 71041351 affecting gene FOXP1 (forkhead box P1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Intellectual_disability-severe_speech_delay-mild_dysmorphism_syndrome']
TGCAGACAAATAAGGACCATAAAAAAAAATTCAAACAAACTTAGTCTCCCAGAATTAGACTGTCTCTCAGATCCACTTACTTTCAAATGTGCCTTAAGACATGAAAAGGGCTATTCTTCTCCCACTTGCCTCCTTGCTAATCTATCACCTGACTGCAGATACATAACCTTTTAGAAAATGAAACTGAGCACAGCGCATCTAAACAAGAAGAGTTTTCTATGTCACAGGAAATCTGTGCAGGCTCCACAACAGCCGATGAGATTGCCACAAATACCTTAAGTGCATCAGTCGGCGTTTTTCAGTGTATGGCCTCCTGCTCTGCCTATGGATAAAGATGTAATTCAATCGCTCTGCAGCAAATGGACGCATCAACCTTAGGGCATCAAAACCAAGTATAGCAAAGGACAACAGCCTAGAACCTTTTCTTTAATGCTCTCTAAGGTTTTCTTTCTTGAAAAAAAAAAAAAAAAGAAGACATCATAAGAGATTGTAAAGCAAGAGCTAAGATTGGCTTCCAGACATACATATCTATCCTTGCCAGAAACAACAGAAGCCACATTTCCCTCAATGGCTCCAAAGATTGTCAGTGTCCACCATTCTATTCCTCTATCTATTCTTCAAACTCTTCCAAACCAACATGCTTAATGCATCTTTTAGTTCTTCGGTGTCTGCCTCAGAAATTCCAAAATGACCTTGGAAGGATAGTTGAAAATTTTAGTTAAAACATATGTATTATCCTCAACTCTGGTAACCACTCATGGTTTTACACTTGAACATGGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTATCTCTGTGTGTGTGTGTGTATCTGTGTGTGTGTGTGTGTTCAGATAATATTTTTCTGGTATAAAGATACACATCTAATTAAACAGTAGGCTTCTTAAATACTCAATATTTTGAGAAATATATGAAATTACATTTGTAATTGCATAACTGAAATATATAATTAAATGTTTTTTCACTGAGCCATTTTTATTAAAAAACACAATACAGAATTTGCTTTCTCCTGAGAGAAATGGCATTTACTGTCACATACTACTTTTACGGTTTCTTTACCTCTGTGTGTGGAAGCTCTGCCTATGAAATATATAGAAAACAGTTTAGGAATAGCAAACAAAAAGTTTTCAATTTTAGGGGCATTGTATTTTCTATTCTTGAAAAGCACTTCAACAGTGGTATTAATGCTTCTGGGTACTAAGAATACCATAACATGAATTAACAGCTTTATTTTCTTAGAACTGCATGCTAACATGGCATATTCTGGATCTCTAAAACAAGCTCAGCTTCAAGTAACATTCATGTAAAGCCCAGGGCAATTCAAAAATAAAATGTCTTAACTTCTAAATAGGAATACAGCTGCTGAGACAATACTACACTATATCCCACAATGAAGAGAAAGTGTGCTGTGTCTGTTTATGTGAGTATATACAACAGATCCCCCACCTCCACCAGCCACCACCACCACTACCTCTTCTGTCTCTCCATCCTCCAAACCTTCACTCAGAATACATACGGGAAAGACCATGTGCTCCAGGGCACAATGATGAAAAACATGGGCGCCCAGCCTTCAAGGGGAGCAATGTAGAGTAACATAAGTTCTATGTTTTCTCAAACCATAATTCAAAATTGCCCACAGCAGACACTACTATTCCCTTAGAAGGCACTTCCAGCCAAGGAATTCAGCTTGTACGGAGTGAGCACTTGGCAGAAGGAGTAGGCCTGGAAGCCTGGAAATCCAACCCATCCAATGAGAAACTACACGACTTCTGCCCGGGTTCCTAAGCTGAGAGTAGATCTACATAAGTGCTAATTCCATGTTGAAAAGGTGAAAATAATTAGATGCTTCACACCCAAACCATACTGAATACATTCCTCAGTAATTATATGCACATTCAAGTCACATGGATCCAATTAGGGATCACTGAGATATGACGAGGCAGGGCCACCCACCCCTCTCATGTTAAAGGCAGTTTTGGACCCATCTCAGTGGCTGGTTCCTACCTTTCCCTTTTGGGAGTGTGGACTGAGAGCTGTCCATTGGTAGAGGCATGTGGGTTCATTATTAAGGAGGTCTTGGAAGGTGCAGAGGAGGAGACACATGTCGTGGTCAGATCCAAACTGCTGTGATTGTTGCCTGTGGTTTCTTCTGCAGTATGAGCACTTGTCACTTCTTTCCAGAGCTGCTGCAGTTCTGTTGGAATCATGCCTGAAACAAACAAATTGGATAATTAAATCAATTAACAGCTAATTCCGTCCTCTTCAAACAGCAATTAAATCAAAGAGTCAGTAAACAAAGCCTAGTGTTAGGGGGGTTTTTCGGTGTGTGCAGTTTTTTTTCCCCTCCCAACTACGGCAGATGCGGTAGTAAAAAGTGTGTCCTCTTACCGAGCAACTGAGTGGAAGTTGCCCTCATCGCACATAAAAGACTCAGGTGAAAGTGACTCAAAACACAGTTACTTTGCCACAACAGTATGCCTCTAACCATCCCAAGTGTTATTTCTCAATTTTGATGAAAAGTAGATAGATGTTACCTTAGTTTTAGACACAAAGAAGGGCTCAAAATAAATTTGTTCAACTATACTATTATGACAACATGAACTACAAAATGAATAATTTTTGTGCTTAAGTCTTAAATGATGACAAATAGCTTTGTTATTAAATATAGTTTTTATTAATCACTTTTAGACATAAATTATGAATTCATATCGTCTTCCTGAAATGCTTTTCAACTTTTAACAGTCAAATTGATTATACTATGATTATTTCATTAACACACCTATCTTCCTCATTAATTTTGGTTTCTAGTACCACATGCTTAATTGATGGATGTGTCTACTGAAAAACTGTGTAACTTTTTATACAAGTAACACTATTATTACTGTCATTTCTTAGATCAATGGTAATGAACCATTGCAGAATAAAATGCAAACGTAAAATAAACTTACAGTAATGAAGTTCTCTTGTTTTTTTAAAGGGGATCTAAATGGACATGGGTTTTAAGGAGTGAATCCAGTATTTTCCCCCAAGAAGAGATACAATCAGTATGCCAATCTCACTATTGTGGGCCTCTTCGTCTTTATCCTGCTGGCATGCCTCTGTAGCCCAGGTTTCCAAATCCCACCTCAATGCATATTCTAGCCCACACATGCACAGAATAAAGATATTCTAGATGACAACTAACAAAAACAACAACAACGACAACAAGCAACAAAACTTCCTTTGGAGGAACACCGAAAAGAAAACATAAACCCTGCACATCCTAAGGCAATACCACATTAGAAGTGGACGTCTGGATTGCAGTTCATTGTTTCAATCAAGTGTAACACAGCCATCCCAGAAAGCCTGCCATTTTCTGACTATATAGCAGCAGCTGAAACAGGCATGTTTCTTACCAAACCTAAGGTATCGAATTAAAAAAGAAGGCTGTGTGCATTATATTCATTTGAAACACATAATAAAAAATGCCAAGGTCTAAATTTAATTTATTTTTGTCATTTAGAATACAATGGATAGATAATCATCTCAACGTGATCAGCCAAACATCTTTACTTTGCTAAACTGTTAAAGATTTTAATTATGCTAGCATTGGAGAGCACTGGTCTAATGAGGCGATGGACTCCAGAGAATCCGAGTGGTTAAGAACTGTGAAATGAGTCTGATAGGATTTTTTTATATTCACCGTGGATCGTTTGCATATCAAAGAGGAGTAAATTATTGCACAGCAGACCAATAACCTTCCCCGCCTTTCTGAGAGGAGCGTTAACAAAAACAGTTGGTCCCTCCTAACGGTTCTCCACGAAAATGTTCAAATGCTCAAGCATTTGCAATTAATATATATTATAAAGGAGGCTTCAAATGATACATTAAGTGGTCAGATATTCTTAGGAGGCATCCTCGACAGACAAGTCGGTTTTCTTCTCCCTTCATAAAAATCAAATGCCAATTATATTTTGATGGATTTTGTCCCAAATGAGCATTTAGTTATTAGGCATAGTCAATTATTACTTGTCCCCTGAAATTAAGCCTCAGAGGCAAATTAAACAAAGGGGAAAGGTCACTCCACAACCCCATG
TGCAGACAAATAAGGACCATAAAAAAAAATTCAAACAAACTTAGTCTCCCAGAATTAGACTGTCTCTCAGATCCACTTACTTTCAAATGTGCCTTAAGACATGAAAAGGGCTATTCTTCTCCCACTTGCCTCCTTGCTAATCTATCACCTGACTGCAGATACATAACCTTTTAGAAAATGAAACTGAGCACAGCGCATCTAAACAAGAAGAGTTTTCTATGTCACAGGAAATCTGTGCAGGCTCCACAACAGCCGATGAGATTGCCACAAATACCTTAAGTGCATCAGTCGGCGTTTTTCAGTGTATGGCCTCCTGCTCTGCCTATGGATAAAGATGTAATTCAATCGCTCTGCAGCAAATGGACGCATCAACCTTAGGGCATCAAAACCAAGTATAGCAAAGGACAACAGCCTAGAACCTTTTCTTTAATGCTCTCTAAGGTTTTCTTTCTTGAAAAAAAAAAAAAAAAGAAGACATCATAAGAGATTGTAAAGCAAGAGCTAAGATTGGCTTCCAGACATACATATCTATCCTTGCCAGAAACAACAGAAGCCACATTTCCCTCAATGGCTCCAAAGATTGTCAGTGTCCACCATTCTATTCCTCTATCTATTCTTCAAACTCTTCCAAACCAACATGCTTAATGCATCTTTTAGTTCTTCGGTGTCTGCCTCAGAAATTCCAAAATGACCTTGGAAGGATAGTTGAAAATTTTAGTTAAAACATATGTATTATCCTCAACTCTGGTAACCACTCATGGTTTTACACTTGAACATGGTGTGTGTGTGTGTGTGTGTGTGTATGTATGTATCTCTGTGTGTGTGTGTGTATCTGTGTGTGTGTGTGTGTTCAGATAATATTTTTCTGGTATAAAGATACACATCTAATTAAACAGTAGGCTTCTTAAATACTCAATATTTTGAGAAATATATGAAATTACATTTGTAATTGCATAACTGAAATATATAATTAAATGTTTTTTCACTGAGCCATTTTTATTAAAAAACACAATACAGAATTTGCTTTCTCCTGAGAGAAATGGCATTTACTGTCACATACTACTTTTACGGTTTCTTTACCTCTGTGTGTGGAAGCTCTGCCTATGAAATATATAGAAAACAGTTTAGGAATAGCAAACAAAAAGTTTTCAATTTTAGGGGCATTGTATTTTCTATTCTTGAAAAGCACTTCAACAGTGGTATTAATGCTTCTGGGTACTAAGAATACCATAACATGAATTAACAGCTTTATTTTCTTAGAACTGCATGCTAACATGGCATATTCTGGATCTCTAAAACAAGCTCAGCTTCAAGTAACATTCATGTAAAGCCCAGGGCAATTCAAAAATAAAATGTCTTAACTTCTAAATAGGAATACAGCTGCTGAGACAATACTACACTATATCCCACAATGAAGAGAAAGTGTGCTGTGTCTGTTTATGTGAGTATATACAACAGATCCCCCACCTCCACCAGCCACCACCACCACTACCTCTTCTGTCTCTCCATCCTCCAAACCTTCACTCAGAATACATACGGGAAAGACCATGTGCTCCAGGGCACAATGATGAAAAACATGGGCGCCCAGCCTTCAAGGGGAGCAATGTAGAGTAACATAAGTTCTATGTTTTCTCAAACCATAATTCAAAATTGCCCACAGCAGACACTACTATTCCCTTAGAAGGCACTTCCAGCCAAGGAATTCAGCTTGTACGGAGTGAGCACTTGGCAGAAGGAGTAGGCCTGGAAGCCTGGAAATCCAACCCATCCAATGAGAAACTACACGACTTCTGCCCGGGTTCCTAAGCTGAGAGTAGATCTACATAAGTGCTAATTCCATGTTGAAAAGGTGAAAATAATTAGATGCTTCACACCCAAACCATACTGAATACATTCCTCAGTAATTATATGCACATTCAAGTCACATGGATCCAATTAGGGATCACTGAGATATGACGAGGCAGGGCCACCCACCCCTCTCATGTTAAAGGCAGTTTTGGACCCATCTCAGTGGCTGGTTCCTACCTTTCCCTTTTGGGAGTGTGGACTGAGCTGTCCATTGGTAGAGGCATGTGGGTTCATTATTAAGGAGGTCTTGGAAGGTGCAGAGGAGGAGACACATGTCGTGGTCAGATCCAAACTGCTGTGATTGTTGCCTGTGGTTTCTTCTGCAGTATGAGCACTTGTCACTTCTTTCCAGAGCTGCTGCAGTTCTGTTGGAATCATGCCTGAAACAAACAAATTGGATAATTAAATCAATTAACAGCTAATTCCGTCCTCTTCAAACAGCAATTAAATCAAAGAGTCAGTAAACAAAGCCTAGTGTTAGGGGGGTTTTTCGGTGTGTGCAGTTTTTTTTCCCCTCCCAACTACGGCAGATGCGGTAGTAAAAAGTGTGTCCTCTTACCGAGCAACTGAGTGGAAGTTGCCCTCATCGCACATAAAAGACTCAGGTGAAAGTGACTCAAAACACAGTTACTTTGCCACAACAGTATGCCTCTAACCATCCCAAGTGTTATTTCTCAATTTTGATGAAAAGTAGATAGATGTTACCTTAGTTTTAGACACAAAGAAGGGCTCAAAATAAATTTGTTCAACTATACTATTATGACAACATGAACTACAAAATGAATAATTTTTGTGCTTAAGTCTTAAATGATGACAAATAGCTTTGTTATTAAATATAGTTTTTATTAATCACTTTTAGACATAAATTATGAATTCATATCGTCTTCCTGAAATGCTTTTCAACTTTTAACAGTCAAATTGATTATACTATGATTATTTCATTAACACACCTATCTTCCTCATTAATTTTGGTTTCTAGTACCACATGCTTAATTGATGGATGTGTCTACTGAAAAACTGTGTAACTTTTTATACAAGTAACACTATTATTACTGTCATTTCTTAGATCAATGGTAATGAACCATTGCAGAATAAAATGCAAACGTAAAATAAACTTACAGTAATGAAGTTCTCTTGTTTTTTTAAAGGGGATCTAAATGGACATGGGTTTTAAGGAGTGAATCCAGTATTTTCCCCCAAGAAGAGATACAATCAGTATGCCAATCTCACTATTGTGGGCCTCTTCGTCTTTATCCTGCTGGCATGCCTCTGTAGCCCAGGTTTCCAAATCCCACCTCAATGCATATTCTAGCCCACACATGCACAGAATAAAGATATTCTAGATGACAACTAACAAAAACAACAACAACGACAACAAGCAACAAAACTTCCTTTGGAGGAACACCGAAAAGAAAACATAAACCCTGCACATCCTAAGGCAATACCACATTAGAAGTGGACGTCTGGATTGCAGTTCATTGTTTCAATCAAGTGTAACACAGCCATCCCAGAAAGCCTGCCATTTTCTGACTATATAGCAGCAGCTGAAACAGGCATGTTTCTTACCAAACCTAAGGTATCGAATTAAAAAAGAAGGCTGTGTGCATTATATTCATTTGAAACACATAATAAAAAATGCCAAGGTCTAAATTTAATTTATTTTTGTCATTTAGAATACAATGGATAGATAATCATCTCAACGTGATCAGCCAAACATCTTTACTTTGCTAAACTGTTAAAGATTTTAATTATGCTAGCATTGGAGAGCACTGGTCTAATGAGGCGATGGACTCCAGAGAATCCGAGTGGTTAAGAACTGTGAAATGAGTCTGATAGGATTTTTTTATATTCACCGTGGATCGTTTGCATATCAAAGAGGAGTAAATTATTGCACAGCAGACCAATAACCTTCCCCGCCTTTCTGAGAGGAGCGTTAACAAAAACAGTTGGTCCCTCCTAACGGTTCTCCACGAAAATGTTCAAATGCTCAAGCATTTGCAATTAATATATATTATAAAGGAGGCTTCAAATGATACATTAAGTGGTCAGATATTCTTAGGAGGCATCCTCGACAGACAAGTCGGTTTTCTTCTCCCTTCATAAAAATCAAATGCCAATTATATTTTGATGGATTTTGTCCCAAATGAGCATTTAGTTATTAGGCATAGTCAATTATTACTTGTCCCCTGAAATTAAGCCTCAGAGGCAAATTAAACAAAGGGGAAAGGTCACTCCACAACCCCATGNN
pathogenic
71,181
Evaluate this variant at chromosome 3, position 71781525, gene PROK2 (prokineticin 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Hypogonadotropic_hypogonadism_4_with_or_without_anosmia', 'Inborn_genetic_diseases', 'Male_infertility_with_azoospermia_or_oligozoospermia_due_to_single_gene_mutation', 'PROK2-related_disorder']
AATTATGATTGTTATTAACACAAACATAGTTCCATGGGATATGTCACTTTTCCCTTGTTTCAGTAAACAGGCTATGTGATTCTAGCATCTAGGGCATGTGAAGCTGTACTAATACTGCATGAAAACAACACAATTTTTCTTTTTCCAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGTGGCAAGATCACGCTCACTGCAGCCTGAAACTCCTGGATTCTACTGATCCCCTCCCCCACCTCAGCCTTCCTGGTAATTAGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTAAAAATTTTTCTATAGAGACGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAAACTGCCTGCCTCAGACTCCCAAATTGCTGGGATTACAGTGTGAGCCACTATGCCCAGCCAAAAACAACGTAATTCTTAAAGGAGAAAGTTAAGAGTAAATGTTTCAGAGACAATGACTTAAGTGTACAAAAGATAACTCATAATTCAATAAGGGTGTTGAAAATAACGAGAGAAATGCTAAAGGCAGCTGGGCCAGCGGCCCCTCTTCTAGGGAAGTTTGGCATTGAGACACACAAGTAACGGTTTAAACCTCTTCTGTCCAAGAAAAAACAATGCATGTCATGTTTTTAAATGACATTGCAGTCTTGCATGGTAAAACCACAGGAGGGATGGTTTAAATGTAACAGGAAGCATTTCACAAGGCAACCACAGGAAAGCCAAAAGCAAATTCAGTCTTTAGATAGGCCCAAAACAACTGGAATCCACATTATAGCTTGCAGAGTTAAACCTGGGCCAAGGGGCCACAATTTATTTCATTCTGTTCACTCCGAGGAGGTGAAAATATTAACTGTTCTCTGGGACTGTGGAGTATGGGAATGATGTTTGGCTGTGTTACATTTTTAAACCCTAAATCACATGTGAAAAAATAAGACAGAAAATGGAATTTGGTTTGCTCTGATAACATTCTACTTGTATCTAAAAGAAAGTATACAATGTGTAGAAAGAACATTCTAAAGAGACTGAGCTCTGCCTCTCGAAAACCACCTGCCCTAGGACTTGTTGCAACGCCACTGGAGGCACTTTACCAATGGGAAAAATGCGGAGGTGGGACCAGAGGAAGGCAATGCAACCTGGCATTCCTGGGGTGCTCTGTTGAGACCACACTGTGTTTCAAAGGTTTTCAACCAGAAGGCCAAGAACCTCCAGCTCCACATGCCTTCTGCCTCCCACCCACCCGCTTCCTCATGTAATATAAACCTTCCTGACCCCTGTAGACAGGTGGGTCTGCAACCCTTGGAGATACAATCTCTCAAACCCTGTCCAATCCTGCCACCCTATGATCATGCCACTACTGTTAATAACTTTTCAAAAGTGTTATTTAGGTCACTGTGATATTGAGCTGACAGATAATAAAGCAAATTGGAAAATTAAATATCATCGATCTCTAAAATTTTGAAAAATGTGTCCTGTAGGTAGAGTCAAAATATAGAATATTTAAACTAACATACAAGAGTAATTGTATAATCGATTTTCTAAAAAATCCCAAAACACAGAGCTTCCTTACTTCTGCCTTATCAGTAGATCTAATATTAAAAGCAGTCTTTTTAAGAACTTCTATACTCAGATTTCTGCAAAGATGCATACTAGAGTATAATATATATTTTTGTTCTAAATAACTTTTAAGCAAATTCATGTGTTGCAAATTATATTGGTAAAATGCTTCTAACACCATGAGAGCAGTAACATGAAAACTATCACTGGAATAAGAAAGACAGAGGATACAATTCTTTGAAATGAAAGGGGAGAGGAGAGGGGGTAGTTTTACACTGTTATCCTTGCTAATGTCCAATATTCATTTTGTTTGTCGAGCACGTTACCCAGTCCTTCATGTCATACAGACCCTGCTCAGAGTTACCACAGTAGAACCACCATGAATACAAATATATATATACTAACTTTACGAGTCAGTGGATGGCAGCTGTCTCCCAGTTTGCCCATAGGTGTGCAAATCCTTATGCTCTTGACCCAGATACTGACAGCACAGCACATGCCTCCACCACATTGGGAGTCCTTGTCACAAGCCTGAAATGTAATAAACAAACAGATAAATATAGATAACAGGAAAGACTCAGGCTAAGGAAACCTAAAATTAGCAGTGAAATGCCCTTTAAATATCTAAACACTTGGACTTTAATAATCAGGTATATTTTTTAAATGATAACCTTCATTTACTTGTATATAGCTATTATAAAATCTGATCAGAATAGCTATTTCTCATTTTTCGAAAGTGGGCTAAATTCTAGCCCCTGGATTATGAAAATCTTAAATAAACATAAGATTTTTTTTTAAATGAAATCAGCTCTCTTTTTCCAGTGCTTTATGGCTGAATTGGCTTTGAACTTGAAGAACAAGACTATATTACTCTTATACTACACATGGCCATTAGGAACTACATAAATGGAATCACAAGATTTTGTGACTATTAACTGCAGAATACACTGGGGCCAATTTAAAAAAAGAGATTTAAATAGTCTCTAAATCTGGCATGAAACACTCCAGACCCATAAAGGCACTGATGTAAATTTCAGAAGTGCTCATTTTCCCCTTCAAATATTTGCATTTTGGTTCAAGAGACTTGACGTTTCTCACACCACTGACTTGCTTTTTCACCATTTTCTCTTTAAAGAAGTCTCATAGTTTGAAAGTGGACAGACCAAGATGCTTGCCTTATGTTACTCTTCCTTCAGGTGAATAAGCTGCAAAGAGCAAATTACTGGCTTAGCATAAACATATATGTACATTACAAAATCAGCTAACAATCCTGTAAGATCCATCAAATTAAGAAATGCAAGTAACAGGTGCAATTGTCAATAGTAATTACTCAAGTCACCTGCTTTCAATATAAAAGTTGTAAATACATACAATGAAACAATCAACTATGGAGGAATTTCCATACTCTAGTAAATAGAAATAAATAATAAAATCTAAATCTATTTGCATGAAAATGGATCTGAAGAACTATTATTCTTTCCTAGAACCAACAAAAAATAGAATGCTTTGTTTGAACCGTGGGCAGTAATCTGTTTTGGTAGTGATAAGATAAAAACATCCTGTACTATATATGTAAGAAACTAAAACCTCTATCATCTAGGCACAAATTTAAATGTACAATTAGTGGAAACAACTAAAACAGTCCTTCAAAATTCTTAGTTTTGAGGACAGTCATAACTTCTCAAGATATAAAAATATGGGTACATTCTTAACATTATTTCTCATTAAAAGTAACCAACTATTTTGCTTTAAAGTTCATTTACTTCCCTCATTAGAATTTATTTCTCAGTCTATTTAAACAAAGTATCTGGATAAAAGCTAAAAATTTCACCTTGAGGTGTTTGGATTTTATAGGACAATATGTAAATGTTTCAATTTTCCAATTTTTATCTGCATGCCAGAAATCATGTATATGTAGCCATTACATCCCATAAATAAGATGTCTAGTCAATGATCTTTTACAATATAGTTTTAACAAATCTATGTGGGCATATAAATCAATTTCAAAATACCTACATACACTACCCAAAAAACTGTGGATGTCAGGTGAAAGTTTTAGCCAGCATTTTATTTCAACAGATGCTCAATACCTCGAATTTTGAGGCCCCATGAGCTTTTTTTTATGAACCAATCAAAAATCCAGCCAAAATCTTTTAAAATTCAATCACCTGGATGTTTAACATGCTATACACAATGTATCTTGATAAGTTACTGAGTTTTTCATTTGAATCCAGATGGTTCCTGTCATGGAGACATAACTACATTTTATTGCCCTGTTGCTTTAGAGACATTTTTAAAATTCTCTTTTTGTAACACTGAGTTAAAATAACAACAACAAAAACAGCACACATAACTATATAATAAGCCCAGTCTAAGCCTCTCTAACAGATAGACAGCCAATGTGATAAAATTTTATTTTGTAACAAAAGCTTCAGTTCTTGGAAAATTTACAAAGAGTTGCATAGGTTTATATATTTTTAATTAGACAGCTGTTTCCTAATGCCCTTCATC
AATTATGATTGTTATTAACACAAACATAGTTCCATGGGATATGTCACTTTTCCCTTGTTTCAGTAAACAGGCTATGTGATTCTAGCATCTAGGGCATGTGAAGCTGTACTAATACTGCATGAAAACAACACAATTTTTCTTTTTCCAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTATAGTGGCAAGATCACGCTCACTGCAGCCTGAAACTCCTGGATTCTACTGATCCCCTCCCCCACCTCAGCCTTCCTGGTAATTAGGACTACAGGTGTGTGCCACCATGCCCAGCTAATTTTTAAAAATTTTTCTATAGAGACGGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAAACTGCCTGCCTCAGACTCCCAAATTGCTGGGATTACAGTGTGAGCCACTATGCCCAGCCAAAAACAACGTAATTCTTAAAGGAGAAAGTTAAGAGTAAATGTTTCAGAGACAATGACTTAAGTGTACAAAAGATAACTCATAATTCAATAAGGGTGTTGAAAATAACGAGAGAAATGCTAAAGGCAGCTGGGCCAGCGGCCCCTCTTCTAGGGAAGTTTGGCATTGAGACACACAAGTAACGGTTTAAACCTCTTCTGTCCAAGAAAAAACAATGCATGTCATGTTTTTAAATGACATTGCAGTCTTGCATGGTAAAACCACAGGAGGGATGGTTTAAATGTAACAGGAAGCATTTCACAAGGCAACCACAGGAAAGCCAAAAGCAAATTCAGTCTTTAGATAGGCCCAAAACAACTGGAATCCACATTATAGCTTGCAGAGTTAAACCTGGGCCAAGGGGCCACAATTTATTTCATTCTGTTCACTCCGAGGAGGTGAAAATATTAACTGTTCTCTGGGACTGTGGAGTATGGGAATGATGTTTGGCTGTGTTACATTTTTAAACCCTAAATCACATGTGAAAAAATAAGACAGAAAATGGAATTTGGTTTGCTCTGATAACATTCTACTTGTATCTAAAAGAAAGTATACAATGTGTAGAAAGAACATTCTAAAGAGACTGAGCTCTGCCTCTCGAAAACCACCTGCCCTAGGACTTGTTGCAACGCCACTGGAGGCACTTTACCAATGGGAAAAATGCGGAGGTGGGACCAGAGGAAGGCAATGCAACCTGGCATTCCTGGGGTGCTCTGTTGAGACCACACTGTGTTTCAAAGGTTTTCAACCAGAAGGCCAAGAACCTCCAGCTCCACATGCCTTCTGCCTCCCACCCACCCGCTTCCTCATGTAATATAAACCTTCCTGACCCCTGTAGACAGGTGGGTCTGCAACCCTTGGAGATACAATCTCTCAAACCCTGTCCAATCCTGCCACCCTATGATCATGCCACTACTGTTAATAACTTTTCAAAAGTGTTATTTAGGTCACTGTGATATTGAGCTGACAGATAATAAAGCAAATTGGAAAATTAAATATCATCGATCTCTAAAATTTTGAAAAATGTGTCCTGTAGGTAGAGTCAAAATATAGAATATTTAAACTAACATACAAGAGTAATTGTATAATCGATTTTCTAAAAAATCCCAAAACACAGAGCTTCCTTACTTCTGCCTTATCAGTAGATCTAATATTAAAAGCAGTCTTTTTAAGAACTTCTATACTCAGATTTCTGCAAAGATGCATACTAGAGTATAATATATATTTTTGTTCTAAATAACTTTTAAGCAAATTCATGTGTTGCAAATTATATTGGTAAAATGCTTCTAACACCATGAGAGCAGTAACATGAAAACTATCACTGGAATAAGAAAGACAGAGGATACAATTCTTTGAAATGAAAGGGGAGAGGAGAGGGGGTAGTTTTACACTGTTATCCTTGCTAATGTCCAATATTCATTTTGTTTGTCGAGCACGTTACCCAGTCCTTCATGTCATACAGACCCTGCTCAGAGTTACCACAGTAGAACCACCATGAATACAAATATATATATACTAACTTTACGAGTCAGTGGATGGCAGCTGTCTCCCAGTTTGCCCATAGGTGTGCAAATCCTTAGCTCTTGACCCAGATACTGACAGCACAGCACATGCCTCCACCACATTGGGAGTCCTTGTCACAAGCCTGAAATGTAATAAACAAACAGATAAATATAGATAACAGGAAAGACTCAGGCTAAGGAAACCTAAAATTAGCAGTGAAATGCCCTTTAAATATCTAAACACTTGGACTTTAATAATCAGGTATATTTTTTAAATGATAACCTTCATTTACTTGTATATAGCTATTATAAAATCTGATCAGAATAGCTATTTCTCATTTTTCGAAAGTGGGCTAAATTCTAGCCCCTGGATTATGAAAATCTTAAATAAACATAAGATTTTTTTTTAAATGAAATCAGCTCTCTTTTTCCAGTGCTTTATGGCTGAATTGGCTTTGAACTTGAAGAACAAGACTATATTACTCTTATACTACACATGGCCATTAGGAACTACATAAATGGAATCACAAGATTTTGTGACTATTAACTGCAGAATACACTGGGGCCAATTTAAAAAAAGAGATTTAAATAGTCTCTAAATCTGGCATGAAACACTCCAGACCCATAAAGGCACTGATGTAAATTTCAGAAGTGCTCATTTTCCCCTTCAAATATTTGCATTTTGGTTCAAGAGACTTGACGTTTCTCACACCACTGACTTGCTTTTTCACCATTTTCTCTTTAAAGAAGTCTCATAGTTTGAAAGTGGACAGACCAAGATGCTTGCCTTATGTTACTCTTCCTTCAGGTGAATAAGCTGCAAAGAGCAAATTACTGGCTTAGCATAAACATATATGTACATTACAAAATCAGCTAACAATCCTGTAAGATCCATCAAATTAAGAAATGCAAGTAACAGGTGCAATTGTCAATAGTAATTACTCAAGTCACCTGCTTTCAATATAAAAGTTGTAAATACATACAATGAAACAATCAACTATGGAGGAATTTCCATACTCTAGTAAATAGAAATAAATAATAAAATCTAAATCTATTTGCATGAAAATGGATCTGAAGAACTATTATTCTTTCCTAGAACCAACAAAAAATAGAATGCTTTGTTTGAACCGTGGGCAGTAATCTGTTTTGGTAGTGATAAGATAAAAACATCCTGTACTATATATGTAAGAAACTAAAACCTCTATCATCTAGGCACAAATTTAAATGTACAATTAGTGGAAACAACTAAAACAGTCCTTCAAAATTCTTAGTTTTGAGGACAGTCATAACTTCTCAAGATATAAAAATATGGGTACATTCTTAACATTATTTCTCATTAAAAGTAACCAACTATTTTGCTTTAAAGTTCATTTACTTCCCTCATTAGAATTTATTTCTCAGTCTATTTAAACAAAGTATCTGGATAAAAGCTAAAAATTTCACCTTGAGGTGTTTGGATTTTATAGGACAATATGTAAATGTTTCAATTTTCCAATTTTTATCTGCATGCCAGAAATCATGTATATGTAGCCATTACATCCCATAAATAAGATGTCTAGTCAATGATCTTTTACAATATAGTTTTAACAAATCTATGTGGGCATATAAATCAATTTCAAAATACCTACATACACTACCCAAAAAACTGTGGATGTCAGGTGAAAGTTTTAGCCAGCATTTTATTTCAACAGATGCTCAATACCTCGAATTTTGAGGCCCCATGAGCTTTTTTTTATGAACCAATCAAAAATCCAGCCAAAATCTTTTAAAATTCAATCACCTGGATGTTTAACATGCTATACACAATGTATCTTGATAAGTTACTGAGTTTTTCATTTGAATCCAGATGGTTCCTGTCATGGAGACATAACTACATTTTATTGCCCTGTTGCTTTAGAGACATTTTTAAAATTCTCTTTTTGTAACACTGAGTTAAAATAACAACAACAAAAACAGCACACATAACTATATAATAAGCCCAGTCTAAGCCTCTCTAACAGATAGACAGCCAATGTGATAAAATTTTATTTTGTAACAAAAGCTTCAGTTCTTGGAAAATTTACAAAGAGTTGCATAGGTTTATATATTTTTAATTAGACAGCTGTTTCCTAATGCCCTTCATCN
pathogenic
71,221
Considering the variant on chromosome 3, location 77617785, involving gene ROBO2 (roundabout guidance receptor 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
benign
CTGGGAGACATGTTGGTTGCTTCCAAATTTTGGCAAGTATGAATAACACCAATAAAAATATACACGTTCAAGTTTTATGATAAATTCAGCTTTTAAACAAAATAAATGGAAAGGCATTCAAGTGAAAATATTCAAGAATCATCCGGACATTTATAAGTTACTCTTTGTAAGAGAGATCAAGACTAGAGATGTACATTTCTGATATTTACTCATATCACAGTTTCCCTAATGAATATCTCCCATGTACCAGAAACTGTATGAGGTGCAAGAAGTAGATAAGAATGACAGCTTTCTTGAATTTAAGAATCTCACAAAATAGTGGGAGAAAAGAAACACAGAAACAAATAATCTCAATATAATATGAGGAGTACCACAATATAAGTATTATGGAATTGCAATTAATTCCATTTGGAGTGGGGAAGAGAAGACTTCACAAAACTGATGACGTTTGAAGTGACTGGTTGAAGGAAGAGTAGGCAGTTACAAGCAAGTGATTTGAGAACAGTCATAAACAGATGCAGACTTTAGAGAAAAATATAGTATATGGATGTTGAGGAAATAGTGCGAGATTAAGCTGGAAAGATGAGTTTATCAGACTAGGATGGGTTTTTTAGACCTAGCTAATGAGTTGGAAAGGTTTTTTTTTAATACTAGTTATAATCACTGAATAATTTTAGGCTTAAGCGTGATGTGAATGAAGATTTTAGAGATATAATTCTGTTGCACGTGTTTAACAAAGGGTGGAAGAGAAGATGATGATACCGGAAGAGTAGGAAAGCTAATGAGCTTGTTTACAGCAGGAAAGTGATGTGTGATTGTGGGAGTGGGGGTGAAGTTTGGAGAAAGATTCACTAGGTATTTAAGAGGCTGAATGTATAAGACCACTATATCCAATAATATTATTTATCTTTTCCTTGTCTGTGTTTAAAAGGATGTTATAATCCATTTGATTTATGAAAGTATTCAGACTACAGAGAATTGAAATAAAAAAGCTATTGATTTTGTCTCATGGTTAAAACTTTTTGGATTAATTTTCTATATTCACAGACCACAGTCCCTAAAAAAATATGGTTTTAAAATAATTGTCATATTTTATACTCAAAATTTTTTAAAAGGATAGATCTCGTGTTAAAGTTTTTTACTACAATAAAAGTATTATTTTTATTTTATAGGGCAAGGTTTTGAACTCCTGTTTTGTGATTTGCATTTGGATGACAAGATAAAGAGGACATTAGTTTCTACTGAGAAAATTAAGAGAATCAAAGAGATACTGAATGCATTTATATGATAGTCTTAATGACATATGGAATGAAAGGTTGTCAGATATCTAGAACAAGAACAAGTAAAATTCTCCAATACTTCTTAGATAATCAATCAGCGATATTGGCATGTAATGGTGCACAAGTATGAACAGGAGAAGGAAGCAGTTAAATCTACAAGCACTAAATTCATTAATTGTCTTTAATTAGCAATTTGGTTTTTCCACATGAGTAAGTTTGTTGGGAAGTTATTGCCTCTTGTAACTGTGGGGTAACAATTAGCTAAAAAGGTCTTTTAAGAATAAATTGAGATATTGAGATAACAGATGTAATTACAATTAGAAATTAAGATAACAGCCAGGTGATTTACTGTGGTGACACCAACAGCTTCAGGAAGAAATAAACCGAGAGAACATTTCAGATACCATGTGGTTGCTACTTATTGCCAGTATAATTGTGTGCATGTATGTGTATATGTATTTGTGTCAATGTGCATATTTTTCTCATTTAATTTCAGCTATGACAGTGATAGCTGGTGCCCACCATTGCCAGTACAAACTTACTTACACCAAGGTCTGGAAGATGAACTGGAAGAAGATGATGATAGGGTCCCAACACCTCCTGTTCGAGGCGTGGCTTCTTCTCCTGCTATCTCCTTTGGACAGCAGTCCACTGCAACTCTTACTCCATCCCCACGGGAAGAGATGCAACCCATGCTGCAGGCTCACCTGGATGAGTTGACAAGAGCCTATCAGTTTGATATAGCAAAACAAACATGGTAAATATCTTCATTAAGTCAAGAGACCCATGCTTTCAACACATGGAAATTTTTTTCAGAATAAATTCACAAGAGATTCTGATAGAACTACACAGCTAGGGTTAAAAGTGATTTTGTATGACTCCTTAATCATTTAGATAAATGTATCCACTGAGAAATGTTAAATAATTTGGCCAAAACTAGAACTAGAACTAGAACTAGAACTGGAACTGGAGCTGTAACTGTAACTGTAACTAGAACTAGAACTAAAACTAGAACTAGAGCAAGAATTCAAATCTGCTGTATTTCAGGCTAAAGTGCTCTTGGCTACACCAGAATCTTTTCTAATTTATGGTTTATCTTCAATTAGCTTATCATTGAACTCACATCCCATGATGTAATAAAAGACTCCTTTTAGATTCCTCAAAGTGCCTGTGATTAATTCTGTATGTGGTTGTCAATATGTAAATGTGAGCTTCTGCAAATCACATATGGTCAGTATTAGTTATTAAAAGACTCTCTTTACCTGAGTTAAGTGCAACAGAAAAAAAAAGACAATACTAGTATCAGTAAGTGCATAAAAAGCAGGAGTAAATCAAAAATTTCACATTTCTTTTTCTAATCTATAAACTTTTGTAAACTACAGGTGTCAGTTTACCTAGGTATCCTGTGGAATTAACACAGATATATAAATGGGACTAACGCTAACAGTTTTATACAGGATTTTTGTTATTCAATCTTTCTATTTTAATTTTCAAAAGCCCAGGCTTTTATATCACTATTTTAAAGCTCCATGTCATACTCCAATTTTCTTCTGTTGATTTACCCTTTGTGCTTGAAGTCTGAGTAAATTTTTTAAATAGTATTTGTTTTGTTTTTTAAATTGTTCTAGTCATGGGGATAAATAATTCTTATTCTCATTATTAATGAAGTATGTATTATTAAAATACAGCTAACTATACATAGAAAGAGATACCAAAAGGAAGAGTATTACTTAAAGATTATTACAAACAGCCTCTTTTCTTAAGATATTCTTGAACATTTTCCAACAGTCATCAGATGCTTTCTCAAAGGTCAAAGACAACTTACCGTTAAACGCTGTTATTTTTCATCAATCTGCTTTTAATAAAACATCACTATGTAAGTTGAAGCCAGCTGCTTCAAGAGCCACAGGGCTTCCTTCACGTTAACTAATGAAGCAATGCAGTTTGGTCATCTAAAGCACAGACTCAAGCTGAAGGGTTCTCAAATTTGCCACATTTTAGAACCATTTGGATAACCTTAAAATATATTGGTACCTGGGCTCCACTCCCAGAGAAAGATTCTGACTGCCATGATCTGGAATTTGATCCAGATCATGGGACAGCCAAGGTTGGGACCACTGCCGTGGAGATGAACCTGTCTTACTAGCTGCATGACTTTGGGCAACTTGCTCAACATTTATATGCTATAGTTTCCCCATGTGTAAAATGATGGTGATGATAATAGTAATTAGCTCATATAGGAAATTAGAGGGCAGTCCCCAAGACAACCTATATTTCTGATACCAAGTACAAGTTTCAAGGGTCCCCAAGACCACCCTGAAGTTTCAGAATTCTCTATAGTAAGTCATAGAACTCACCAAAAGATTTTACACTCAAAGCTACAGTCTATTACAGTGAAAAGATACGCATTAAAATCAGCCAAAAGAAGAAATGCATGGGACAAGGTCCAGGAAAATTCCAAAAGTAGAGCTTCCAGTTGTCCTCTCAGTGGAATCATAGCGTTACTTTCCCAACAAAGGGTGTGACATTACACACCATGGAGAATTGCCAGCCAGGGATGGGCACACCTTCCTTGAGGTCCTGCGACTTCATTTTGGCTCTGTCACACAGACATTGTTGACTACCCATATGGCTGACCTCAATTTCCAGCCCCTCCAGAGGCTGAGGTGACACCATGCAACTCCAAGCCCCCCCATAATCATATTGCGATGCTTTTTGGAGTAGCCTAAGGCCTCTAGGTAAGCAGAGAGACTTTTATCCACAGGACATTCTAAGGGCTTACAGATTACCTCCCAGGAGTAGAGGGCAAAGGCCTA
CTGGGAGACATGTTGGTTGCTTCCAAATTTTGGCAAGTATGAATAACACCAATAAAAATATACACGTTCAAGTTTTATGATAAATTCAGCTTTTAAACAAAATAAATGGAAAGGCATTCAAGTGAAAATATTCAAGAATCATCCGGACATTTATAAGTTACTCTTTGTAAGAGAGATCAAGACTAGAGATGTACATTTCTGATATTTACTCATATCACAGTTTCCCTAATGAATATCTCCCATGTACCAGAAACTGTATGAGGTGCAAGAAGTAGATAAGAATGACAGCTTTCTTGAATTTAAGAATCTCACAAAATAGTGGGAGAAAAGAAACACAGAAACAAATAATCTCAATATAATATGAGGAGTACCACAATATAAGTATTATGGAATTGCAATTAATTCCATTTGGAGTGGGGAAGAGAAGACTTCACAAAACTGATGACGTTTGAAGTGACTGGTTGAAGGAAGAGTAGGCAGTTACAAGCAAGTGATTTGAGAACAGTCATAAACAGATGCAGACTTTAGAGAAAAATATAGTATATGGATGTTGAGGAAATAGTGCGAGATTAAGCTGGAAAGATGAGTTTATCAGACTAGGATGGGTTTTTTAGACCTAGCTAATGAGTTGGAAAGGTTTTTTTTTAATACTAGTTATAATCACTGAATAATTTTAGGCTTAAGCGTGATGTGAATGAAGATTTTAGAGATATAATTCTGTTGCACGTGTTTAACAAAGGGTGGAAGAGAAGATGATGATACCGGAAGAGTAGGAAAGCTAATGAGCTTGTTTACAGCAGGAAAGTGATGTGTGATTGTGGGAGTGGGGGTGAAGTTTGGAGAAAGATTCACTAGGTATTTAAGAGGCTGAATGTATAAGACCACTATATCCAATAATATTATTTATCTTTTCCTTGTCTGTGTTTAAAAGGATGTTATAATCCATTTGATTTATGAAAGTATTCAGACTACAGAGAATTGAAATAAAAAAGCTATTGATTTTGTCTCATGGTTAAAACTTTTTGGATTAATTTTCTATATTCACAGACCACAGTCCCTAAAAAAATATGGTTTTAAAATAATTGTCATATTTTATACTCAAAATTTTTTAAAAGGATAGATCTCGTGTTAAAGTTTTTTACTACAATAAAAGTATTATTTTTATTTTATAGGGCAAGGTTTTGAACTCCTGTTTTGTGATTTGCATTTGGATGACAAGATAAAGAGGACATTAGTTTCTACTGAGAAAATTAAGAGAATCAAAGAGATACTGAATGCATTTATATGATAGTCTTAATGACATATGGAATGAAAGGTTGTCAGATATCTAGAACAAGAACAAGTAAAATTCTCCAATACTTCTTAGATAATCAATCAGCGATATTGGCATGTAATGGTGCACAAGTATGAACAGGAGAAGGAAGCAGTTAAATCTACAAGCACTAAATTCATTAATTGTCTTTAATTAGCAATTTGGTTTTTCCACATGAGTAAGTTTGTTGGGAAGTTATTGCCTCTTGTAACTGTGGGGTAACAATTAGCTAAAAAGGTCTTTTAAGAATAAATTGAGATATTGAGATAACAGATGTAATTACAATTAGAAATTAAGATAACAGCCAGGTGATTTACTGTGGTGACACCAACAGCTTCAGGAAGAAATAAACCGAGAGAACATTTCAGATACCATGTGGTTGCTACTTATTGCCAGTATAATTGTGTGCATGTATGTGTATATGTATTTGTGTCAATGTGCATATTTTTCTCATTTAATTTCAGCTATGACAGTGATAGCTGGTGCCCACCATTGCCAGTACAAACTTACTTACACCAAGGTCTGGAAGATGAACTGGAAGAAGATGATGATAGGGTCCCAACACCTCCTGTTCGAGGCGTGGCTTCTTCTCCTGCTATCTCCTTTGGACAGCAGTCCACTGCAACTCTTACTCCATCCCCACGGGAAGAGATGCAACCCATGCTGCAGGCTCACCTGGATGAGTTGACAAGAGCCTATCAGTTTGATATAGCAAAACAAACATGGTAAATATCTTCTTAAGTCAAGAGACCCATGCTTTCAACACATGGAAATTTTTTTCAGAATAAATTCACAAGAGATTCTGATAGAACTACACAGCTAGGGTTAAAAGTGATTTTGTATGACTCCTTAATCATTTAGATAAATGTATCCACTGAGAAATGTTAAATAATTTGGCCAAAACTAGAACTAGAACTAGAACTAGAACTGGAACTGGAGCTGTAACTGTAACTGTAACTAGAACTAGAACTAAAACTAGAACTAGAGCAAGAATTCAAATCTGCTGTATTTCAGGCTAAAGTGCTCTTGGCTACACCAGAATCTTTTCTAATTTATGGTTTATCTTCAATTAGCTTATCATTGAACTCACATCCCATGATGTAATAAAAGACTCCTTTTAGATTCCTCAAAGTGCCTGTGATTAATTCTGTATGTGGTTGTCAATATGTAAATGTGAGCTTCTGCAAATCACATATGGTCAGTATTAGTTATTAAAAGACTCTCTTTACCTGAGTTAAGTGCAACAGAAAAAAAAAGACAATACTAGTATCAGTAAGTGCATAAAAAGCAGGAGTAAATCAAAAATTTCACATTTCTTTTTCTAATCTATAAACTTTTGTAAACTACAGGTGTCAGTTTACCTAGGTATCCTGTGGAATTAACACAGATATATAAATGGGACTAACGCTAACAGTTTTATACAGGATTTTTGTTATTCAATCTTTCTATTTTAATTTTCAAAAGCCCAGGCTTTTATATCACTATTTTAAAGCTCCATGTCATACTCCAATTTTCTTCTGTTGATTTACCCTTTGTGCTTGAAGTCTGAGTAAATTTTTTAAATAGTATTTGTTTTGTTTTTTAAATTGTTCTAGTCATGGGGATAAATAATTCTTATTCTCATTATTAATGAAGTATGTATTATTAAAATACAGCTAACTATACATAGAAAGAGATACCAAAAGGAAGAGTATTACTTAAAGATTATTACAAACAGCCTCTTTTCTTAAGATATTCTTGAACATTTTCCAACAGTCATCAGATGCTTTCTCAAAGGTCAAAGACAACTTACCGTTAAACGCTGTTATTTTTCATCAATCTGCTTTTAATAAAACATCACTATGTAAGTTGAAGCCAGCTGCTTCAAGAGCCACAGGGCTTCCTTCACGTTAACTAATGAAGCAATGCAGTTTGGTCATCTAAAGCACAGACTCAAGCTGAAGGGTTCTCAAATTTGCCACATTTTAGAACCATTTGGATAACCTTAAAATATATTGGTACCTGGGCTCCACTCCCAGAGAAAGATTCTGACTGCCATGATCTGGAATTTGATCCAGATCATGGGACAGCCAAGGTTGGGACCACTGCCGTGGAGATGAACCTGTCTTACTAGCTGCATGACTTTGGGCAACTTGCTCAACATTTATATGCTATAGTTTCCCCATGTGTAAAATGATGGTGATGATAATAGTAATTAGCTCATATAGGAAATTAGAGGGCAGTCCCCAAGACAACCTATATTTCTGATACCAAGTACAAGTTTCAAGGGTCCCCAAGACCACCCTGAAGTTTCAGAATTCTCTATAGTAAGTCATAGAACTCACCAAAAGATTTTACACTCAAAGCTACAGTCTATTACAGTGAAAAGATACGCATTAAAATCAGCCAAAAGAAGAAATGCATGGGACAAGGTCCAGGAAAATTCCAAAAGTAGAGCTTCCAGTTGTCCTCTCAGTGGAATCATAGCGTTACTTTCCCAACAAAGGGTGTGACATTACACACCATGGAGAATTGCCAGCCAGGGATGGGCACACCTTCCTTGAGGTCCTGCGACTTCATTTTGGCTCTGTCACACAGACATTGTTGACTACCCATATGGCTGACCTCAATTTCCAGCCCCTCCAGAGGCTGAGGTGACACCATGCAACTCCAAGCCCCCCCATAATCATATTGCGATGCTTTTTGGAGTAGCCTAAGGCCTCTAGGTAAGCAGAGAGACTTTTATCCACAGGACATTCTAAGGGCTTACAGATTACCTCCCAGGAGTAGAGGGCAAAGGCCTAN
benign
71,290
Classify the chromosome 3 variant at position 78639851 affecting gene ROBO1 (roundabout guidance receptor 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Pituitary_stalk_interruption_syndrome']
CTTTAAGGGCAGACATGCAGACTGCTCTATGATTTGTTCTTTATAGTGCATAGCATCTTTACTTAAATCCAACTTCTCTCTCGCCTTTCCGTAATTCCACAGGTTATTTTACTTCTATCATCATAGAGATTCCATACAATAATTTTAATATTTCCTATATTGGCAATATTGGGTTTTTTTTTGGGGGGGGGAGGGGTTGTTTGGTAAGAAATCTTTGGTAATTTTTATTCCTTTAAATCTTGCAGACTGTACATCTGATTTTTTACTATTATGTTTTGGCATGAAATTTTAGCAAGATAATTTACTCACACATACATCTGACTCAAAAAACAAACAATAGAAAATAAATGTATGCATGCACACCTGCAGTGTGTGTGTGTGTATATATATGTGTGTATGTGTGTATATATATACACTTATATACATATATGTATGTGTGTATACACACATACATATATGTATATGTGTATATATATACTTACATATAGGTGTATATACATACATATATGTGTGTATATATATACACACACACTTAATATGTACATATATATATATATCGTGTCCTCAGGATTTGCTACTATACCATAAAATCTGATTTTAAATTTCAGTTAATTTTTATTTAAATTTTTTTGTTATTACTGTTGTAGATTATTATTATTTTTGCTATTAAAGAATTTGGTTCATTATAACTATGAATTTATTTACCTTTTGATCTGTGTTACTCCCAAAATCTCAAAAATGATTAAATATGATTAAAGATTATTTAATTACAATTAAAAATTATATGCCAGGCACAGTAGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGGCTGCCTGAGCCCAGGAATTTGAGACCAGCCTGAGCAACATAGCAAGACCTGCATCTCTACAAAAAAAATTTTTTAAATTAGCCAGGCATGGTGGTGCGTGCCTGTGATCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATTAGTTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGTGTTAATGCCACTGCACTCCAGCCTAGGTGAAGAGCGAGATTCTATCTCAAAAAACAACAAACAAGCAAAAAAGGTAAAAGAAATTGTAATCACATACATTCTTATCAACATAAATACATTTGACCAGCCTGGCCAACATGGTAAAACCCTATCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGTTGTGTGACTACAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCTCTGAGCTCCAGCCTGGCCTACAGAGTGAGACTCTTGTCAAAAAAATAAAAAAAGTTAAATACTTTTATGGCTGGGCACAGTGGCTCACGCCTGTACTCCCAGCACTTTGGGAAGCCGAGGTGAATGGATCACGTGAGGCCAGGAGTTCGAGGCCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTTAAAAAAAATATATAAAAATTAGCTGAGCCTGATGGTGCAGGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTGGAACTCAGGAAGTGGATGCCACTACACTCCAGCCTGAGCATCAGAGTGAGATTCTGTCTCCAATAAATAATAAATAAATAAATAAATACTTTCACATGATTTTATTTTTCCTACTTGCTATTGATTGTAGAATTTATCTTCCCAATTCTCTGGGCAAAACTTTTTTGGTGGACTTTAGCAAAGTATGGAGGTTAAGGGATGGAGAAAATACTTAAATCAGGCTATTTTGCTAAACAATAGTCAGCATTGGATAAAATACGGGTCAAATTTTATCTTTCCCATGTAGGGAGAGGGAAAGAAAAGATCTTCTGGCTAGTTCCTTAAAAAGCTTATACATATCAGGCTCTCTCTGTGTCCCTAACCTGGGCGACTGTAGGTAGTGAGGTTGCTGTCGCTGTTTCCATTGCCTGCCGTGCAGCAGCTGATGGAGCAGTCATTGTGGTTGTTGCCAGTATTAGGCCACGTGTCTGCCAGCCATGGCTGCGCGGCAGGTTCACTGATGTTGAGAAGTCCAGGCCTAAATAAAAAAAAAATATTAAAGCAAATGTTATATGAATAGAGAGTAATATTTTCTATTTAAAATTCCAATAAATTCCTCATCTTGTTATGCTCACAAATCATCTGATGAACTATGCTGAATGACATTATTATCCCTTTTATTCTACACACAGGCAACTGTAATATAAGGTTCTGGGATGTGCCTCCATTTACATAGCCATAACTGTACACGGGAAGAGTTATGCATCAGACCTAAAATCTCGTATCATTTGCAATGTTCTACTCTGCCTTTAGTCATAATGGTTAAAAATCAAACATGGAATATGAACATATTTTTGAGTCTTTTAGTGGTTTAAAAAAATACCCTAGTTCAGATAGTTGGCACTTCTTCATTTTGACCCATTAAAAAATTGTGACTCCTTACAACTTCATTAAAAAATGAAACAAGCCTCTTTACTCAGACAATAGATTCTTCAAATTAAATGTACTGGCGTATTTTTCTCCAAAACCATGTTTCATACTTAATGAGTTTGGGGCTCTGTGACATTTTACACAGATCCTCATCAATGTTTCAGAGCATAGTTCTGTAAGCTTGTCAACATTTTCTGATGGTGACAATGTAAAATGTCATAAATCCCAACATAAGCAAAGGAAAGCTGATGAATTAAATCTGATAAAACAGAGATGTCCACTAAAAAGAATATTAGTGTTCATTTTGTTATTTTTTGGCAGAAGATGCTATTCCTCTTTTACTGTGCATTGGGAATGCCAAGTACATCAGCGATTATTAATGGGAGCCTTGGACCAACAGAGCCAGGGACTCAAACTGGAGTTGAAGAGTGGGATTCTTCATTTCCTTTTCCAGCACCGACTTCATACTTACCTCCATTCAGCAAAAGAGGTGACGTCCCATTCACAATAAACAGACTGGCATTACAGACTCTGCAAAGATTTTCTTGGTGGTTTTATTTTCTATGTTAAAATGCAATAATTATGTTTCTTATTTACCTGGGAAGCAAGAAATCTGATATTTCACCTTCCATGGTTCTTATTCTAGCACATAGTCTACTGAGTAAAATTTAGTATGCAAATGATGGTTGAGAAGTAATCCATTCTAAACAAAGGCTATGGACTTGTGATTCATTTTTGTATGCATATGTGGGTACATATAGTTATATAATAAAAATAAATATTTACCCTTTGCTTATAATGTGTGAGGCATTGTTCCGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTAAACAGGGATGAACTCATGTGGTCATCACGACAATTTTACAAGGGAGGTACTGTTATCCAGATTTTAAAGATGAGGAAATGGGACGTCTAAGAGAGGTTAAGAAGTTTGTGCATGGTTACTTAAAGTGAGTGAGTGGCAGAGCTGAAATTCATACCCTAGCAGGCTGGCCCTAGACTTTACACTCTAAGATTTTATAAACACATACACTGGAGAGTACTAAAAGTTCCTAAAGCTCTGGAATATTCTTAATGAAAGGAAGAGTGGAGAAAATATCGGAAGTGTAAGCTGTTAAAACTGAGCCATCTTACTATTAAAATTGTTGATAAATCGTGATTTGAAGAGTAACGTTTCCAAACTGTTGAAATTTTAAACATTTAAATGCAAATTATAACACAGATATCTGGAGCCTTGAAATAGATATTAGTTATAGGAATTCTGCATCTAGTAATCTTTTGCTTTCTTATTTTATTTTTCTTTGAACTTAAACTATGAATGTTATCACTGTAGAAGTTATTAAAAATAAAACTCCATATGTGACACAGCAGAGATGTTATAGGACGTCTGAAATATGGGCCAAGAGGAGATTTTCCACAGACTGACTTACATGTTTCAAAAGAAATAGACAATATTTTTATGCTGCTCTGATTCCCTCTGAAAAACACTTTCATAGTGAATGCTTTGATATCATCATAGGCTGAGAGACCTTTTCATATATATGAGTGATTTCCAACAGGAAGCTGACTTATCGATTTACATCCTA
CTTTAAGGGCAGACATGCAGACTGCTCTATGATTTGTTCTTTATAGTGCATAGCATCTTTACTTAAATCCAACTTCTCTCTCGCCTTTCCGTAATTCCACAGGTTATTTTACTTCTATCATCATAGAGATTCCATACAATAATTTTAATATTTCCTATATTGGCAATATTGGGTTTTTTTTTGGGGGGGGGAGGGGTTGTTTGGTAAGAAATCTTTGGTAATTTTTATTCCTTTAAATCTTGCAGACTGTACATCTGATTTTTTACTATTATGTTTTGGCATGAAATTTTAGCAAGATAATTTACTCACACATACATCTGACTCAAAAAACAAACAATAGAAAATAAATGTATGCATGCACACCTGCAGTGTGTGTGTGTGTATATATATGTGTGTATGTGTGTATATATATACACTTATATACATATATGTATGTGTGTATACACACATACATATATGTATATGTGTATATATATACTTACATATAGGTGTATATACATACATATATGTGTGTATATATATACACACACACTTAATATGTACATATATATATATATCGTGTCCTCAGGATTTGCTACTATACCATAAAATCTGATTTTAAATTTCAGTTAATTTTTATTTAAATTTTTTTGTTATTACTGTTGTAGATTATTATTATTTTTGCTATTAAAGAATTTGGTTCATTATAACTATGAATTTATTTACCTTTTGATCTGTGTTACTCCCAAAATCTCAAAAATGATTAAATATGATTAAAGATTATTTAATTACAATTAAAAATTATATGCCAGGCACAGTAGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGGCTGCCTGAGCCCAGGAATTTGAGACCAGCCTGAGCAACATAGCAAGACCTGCATCTCTACAAAAAAAATTTTTTAAATTAGCCAGGCATGGTGGTGCGTGCCTGTGATCTCAGCTACTTGGGAGGCTGAGGTGAGAGGATTAGTTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGTGTTAATGCCACTGCACTCCAGCCTAGGTGAAGAGCGAGATTCTATCTCAAAAAACAACAAACAAGCAAAAAAGGTAAAAGAAATTGTAATCACATACATTCTTATCAACATAAATACATTTGACCAGCCTGGCCAACATGGTAAAACCCTATCTCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGTTGTGTGACTACAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCGCCTCTGAGCTCCAGCCTGGCCTACAGAGTGAGACTCTTGTCAAAAAAATAAAAAAAGTTAAATACTTTTATGGCTGGGCACAGTGGCTCACGCCTGTACTCCCAGCACTTTGGGAAGCCGAGGTGAATGGATCACGTGAGGCCAGGAGTTCGAGGCCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTTAAAAAAAATATATAAAAATTAGCTGAGCCTGATGGTGCAGGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTGGAACTCAGGAAGTGGATGCCACTACACTCCAGCCTGAGCATCAGAGTGAGATTCTGTCTCCAATAAATAATAAATAAATAAATAAATACTTTCACATGATTTTATTTTTCCTACTTGCTATTGATTGTAGAATTTATCTTCCCAATTCTCTGGGCAAAACTTTTTTGGTGGACTTTAGCAAAGTATGGAGGTTAAGGGATGGAGAAAATACTTAAATCAGGCTATTTTGCTAAACAATAGTCAGCATTGGATAAAATACGGGTCAAATTTTATCTTTCCCATGTAGGGAGAGGGAAAGAAAAGATCTTCTGGCTAGTTCCTTAAAAAGCTTATACATATCAGGCTCTCTCTGTGTCCCTAACCTGGGCGACTGTAGGTAGTGAGGTTGCTGTCGCTGTTTCCATTGCCTGCCGTGCAGCAGCTGATGGAGCAGTCATTGTGGTTGTTGCCAGTATTAGGCCACGTGTCTGCAGCCATGGCTGCGCGGCAGGTTCACTGATGTTGAGAAGTCCAGGCCTAAATAAAAAAAAAATATTAAAGCAAATGTTATATGAATAGAGAGTAATATTTTCTATTTAAAATTCCAATAAATTCCTCATCTTGTTATGCTCACAAATCATCTGATGAACTATGCTGAATGACATTATTATCCCTTTTATTCTACACACAGGCAACTGTAATATAAGGTTCTGGGATGTGCCTCCATTTACATAGCCATAACTGTACACGGGAAGAGTTATGCATCAGACCTAAAATCTCGTATCATTTGCAATGTTCTACTCTGCCTTTAGTCATAATGGTTAAAAATCAAACATGGAATATGAACATATTTTTGAGTCTTTTAGTGGTTTAAAAAAATACCCTAGTTCAGATAGTTGGCACTTCTTCATTTTGACCCATTAAAAAATTGTGACTCCTTACAACTTCATTAAAAAATGAAACAAGCCTCTTTACTCAGACAATAGATTCTTCAAATTAAATGTACTGGCGTATTTTTCTCCAAAACCATGTTTCATACTTAATGAGTTTGGGGCTCTGTGACATTTTACACAGATCCTCATCAATGTTTCAGAGCATAGTTCTGTAAGCTTGTCAACATTTTCTGATGGTGACAATGTAAAATGTCATAAATCCCAACATAAGCAAAGGAAAGCTGATGAATTAAATCTGATAAAACAGAGATGTCCACTAAAAAGAATATTAGTGTTCATTTTGTTATTTTTTGGCAGAAGATGCTATTCCTCTTTTACTGTGCATTGGGAATGCCAAGTACATCAGCGATTATTAATGGGAGCCTTGGACCAACAGAGCCAGGGACTCAAACTGGAGTTGAAGAGTGGGATTCTTCATTTCCTTTTCCAGCACCGACTTCATACTTACCTCCATTCAGCAAAAGAGGTGACGTCCCATTCACAATAAACAGACTGGCATTACAGACTCTGCAAAGATTTTCTTGGTGGTTTTATTTTCTATGTTAAAATGCAATAATTATGTTTCTTATTTACCTGGGAAGCAAGAAATCTGATATTTCACCTTCCATGGTTCTTATTCTAGCACATAGTCTACTGAGTAAAATTTAGTATGCAAATGATGGTTGAGAAGTAATCCATTCTAAACAAAGGCTATGGACTTGTGATTCATTTTTGTATGCATATGTGGGTACATATAGTTATATAATAAAAATAAATATTTACCCTTTGCTTATAATGTGTGAGGCATTGTTCCGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTAAACAGGGATGAACTCATGTGGTCATCACGACAATTTTACAAGGGAGGTACTGTTATCCAGATTTTAAAGATGAGGAAATGGGACGTCTAAGAGAGGTTAAGAAGTTTGTGCATGGTTACTTAAAGTGAGTGAGTGGCAGAGCTGAAATTCATACCCTAGCAGGCTGGCCCTAGACTTTACACTCTAAGATTTTATAAACACATACACTGGAGAGTACTAAAAGTTCCTAAAGCTCTGGAATATTCTTAATGAAAGGAAGAGTGGAGAAAATATCGGAAGTGTAAGCTGTTAAAACTGAGCCATCTTACTATTAAAATTGTTGATAAATCGTGATTTGAAGAGTAACGTTTCCAAACTGTTGAAATTTTAAACATTTAAATGCAAATTATAACACAGATATCTGGAGCCTTGAAATAGATATTAGTTATAGGAATTCTGCATCTAGTAATCTTTTGCTTTCTTATTTTATTTTTCTTTGAACTTAAACTATGAATGTTATCACTGTAGAAGTTATTAAAAATAAAACTCCATATGTGACACAGCAGAGATGTTATAGGACGTCTGAAATATGGGCCAAGAGGAGATTTTCCACAGACTGACTTACATGTTTCAAAAGAAATAGACAATATTTTTATGCTGCTCTGATTCCCTCTGAAAAACACTTTCATAGTGAATGCTTTGATATCATCATAGGCTGAGAGACCTTTTCATATATATGAGTGATTTCCAACAGGAAGCTGACTTATCGATTTACATCCTAN
pathogenic
71,328
Is the chromosome 3, position 81493813 variant in GBE1 (1,4-alpha-glucan branching enzyme 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['GBE1-related_disorder', 'Glycogen_storage_disease,_type_IV']
TGCAAAGCAAACATGACTTTAGGAAAAAACTCAAACAAATAGAACAGTTGATTTTCACTGAATGAGACTTGTATGTCCAATGCATCTCAACTCTACAAATGTTTTCTCTTAAGGTTCCACAATAAAGAACCCATACTACTCTTAAAAAAATCAGACATATTGATACAGCTGGTTAGTTTTTAACATCAAAAGTTAAAGCAGTTTTAAAATGGTGGCACTTATATTCTGGATTTAATGGCTAGAGAATAGTTTTTCTAATCTTCAATTCAAAGTAATAGTGATTTAGGAAATGAAAGTCATCTGCAAAAGATTAACAAATGCCAGCAGTCGCTGTGTAACTCAATGTCTCATGTTCTGTTTTGCAATACAGTATTTCCAAAAAGATAAATATTACATCCATGTAGTCACTAAGTGTGAGAAAACCATGTATTTCAGTGCTACAAACTGTTTCCCTAGAGTTTACACATTGTATTTAATATCTCATAACTATCATACCACATCAGAATTTCACTGCTAATGCAATCCTTTCCATGCAATGTTTTCTCTTTGTCATACGTAAGATGTTACGAGACTGATTCAATAAAAGGAAGCTGGAGTTATCCACGAATAAAGCAGGACTATTACCAAAGATCCAGACAGACCCAGTCCAAAGGAGGGCACATTTCCATAATCAAGCTACAGACAAAATGAACACAAACCAAAGCAAAGAAGGAGAAAAAAAAAACAGCCTGATTCAACCCATTCCCTCCCTACATCTTAGCAAAACATGTACAAATTGAGAAAGTGACCTACCCTTCTAAAGGAGTTTCCCATGTACTTATTAGGATGTCTAGTCTACATCTTTCTTTCTTTCTTTCCTTTTCTCTTCCTTCCTTCCTTTCTTTCTTTTTCTTTCTTCCTTCCCCTTCTCCCATTCTCCCTTTCTCCCTTTCTCCCTTTCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTTTCTTTCTTTCTTTTTTTTTTTACATGGAGTCTTGCTATGTCACCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGTATTACAGGCATGCAACACCACACTCAGCTAAATTTTGTATTTTTAGTAGAGATGAGGTTTCTGCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCTGCCTTGGCCTCCCATATTGCTGAGATTACAGGCGTGAACCACCGCAGCTAGTCATAGTCTACATATTTCATTTTGGGGATCACAGTAACTGGATTTAACTAATCAGTGGGACAGAAGGTTACAATTTGAATGGTTCTGAATTGTTCTGCCATGAGCAATCTAAAAGTGAAAACCAATCTAAACATTTCAGTAGAACCAGAAACTGGACAAGAGAATTTCAGTTCCCTCTACATTGAAAACATTTCTCTTATAGAGTATTGTCCTACAATGCAGGTAAAAAGACCCTGATAAGTCCAAGGTTCCTGGGAAAGTTGCAATGAAACACATTAGACAGGCCTAGGATAAATAATGACAGGTCTCTGTTAGTGCGTGTTATAGTGACATATCTCAGATTTGGATCCTATGCAATTGTGATATCTACTGTTTCATTCATAACCTCATTATTTCATTAATGAAATATAATAATAATTACATAATGATAATTTAGAACCAGTCTTACTCTTTGATGTTTTGGCATTTTAGCTTGTCTAAATTTAGCTTGTCTAAATTTTTTTTTTTTTTTCTTTTTAGAAGGAGTTTCGCTCTTGTTACCCAGGCTGGAGTTCAATGGCACAATCTTGGCTCACCGCAGCCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGATGCGCCACCACACCCGGCTAATTTTTTGTGTGTTTTTAGTAGACACGGGGTTTCTCCATGTTGGTAAGGCTGGTCTCGAACTCCCGACCTCAGCTGTTCTGCCTGCCTCGGCAGGCTGGGATTACAGGTGTGAGCCACCACACCCATCCGAGAGGGTTTTTTTTTTTAAAGGATGCCATAACAAAGTTCCAGGTTTGTAACATATGCACTGCAATATATTCCCATTGTGGCACTTAATGGTTAAAAAATGCTCCAAGAACACTCACTAACTGATGCTGGTCTTTTTATGTAAGGAGGTTTATAATGACAGTTCCATCATACTTAGAGACCTCTTAATGCAATATGCTAAAAAAAAAACCCTTTGGTTCACAATTGTACAGTATCATTAACAGAAATACTTTGTAATAATATACATATATTTCACTGCAGTGTTAATTACCAGAATGTGTTTATATTGCTCCAGAGCCTTTGTGGTATAGGCAACATGGAAGAATTTCCCTAAGCCAGTGATTTTTCTTAACTATGGCTATTTATGGAATTTTGAGTTTTCTTCTGAGTATGTAAATCAATTTTCTTAGTGGTTAGAAAACTACTACTGATTATACTAAAGAACGTAAGATAATCAGAGCTAACCCTTATGATGAGACAATTACAGACATGAACAATTTGGGGTTCCTAAAATTTAGCCTAAGTATTGGCTCTGTAATTCTCATTTTATCATTTTAATTTATAAAATAGTTTTGATTAATGTGGCAAGAGAAAAGAAACATGAACACATTTAAGTAGATTTAAACACAATCATTTAAGTATATTTAAATATAAAAAGTATATTGATGTACCTGTATATAGAAGCCACTTATCATTCATGATAATATGCATGCTGATAAACATATCTCATATGCTCATTTATTAGCCTGTAAGCCCTAAACATTTTATACCTAGAATCGCCTTAAGAACATGAGACAACGTAGTATACAGCCATGAGTTTCATTTTTTTCTAGCTATATTAATAGTCTGCTCTTCACAAAGAGTCAGAATAGCACAGTACAATCCAATTCATTTATGAAGAGAGTCAAATGCATGCTAATCTACTCAGTTATTTTGACAACTTTAATGACTTAATTGACTCACTAACCATGAGTGTGGCTAAGACAATAACTGCTCACACAATGCTCTATTTTATGTCATTCAGGCAAAATGTTATTTTCCTCTAGGACTGTATTTTCCTCTAGGACTAATAATTGACTTGCAAAATTTAATTACACAGTTTTTGAAAACACAGTGTCAAACATTTAAAAAAAGAAAAGTTTAAAATGAAAAAATATTTAATACTTTAAAGGGCAATTTAAAAAATTCCCTTAGAAATTGTTAAGTTTAGAAATAGCACATACACATATAATTCTGGTAGAATGAAAACATCATTCAGTGGGTCGGGCATAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGCGGCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAAAACTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCACAAAAAACAAACAAACATCATTCAATGAAAAAGTCATCAGATTCTTTCATAGTCTACATAAACACTTTTTTATAATAAAAATCACAGTTTTTTGAAAAATATAAAGATGATATAAATTAATTTTAGTTTTCACATACATGCTTTAGTTCATAAAATACTTTTCTAAGAAAAAATAAATTTTATTCTTGTATTCTAATTCTCATTATTTTGCATTGGGGTTAGGAGAAAAGTGACTCTAGTATTTCTGTACAGAAATGTATATTAGCTCATCTAACTTGTATACATTAAAAAAGTAAACTAAAAATCAAGATTTTCTTTCTTCTAAAAAACTATTTTCATAATTTTGAATAGAGCAGAAGATATTTTCCAATTGTTAAGCTGTATTAAAACTTACAACTGAGGGGCAATAAAAGTGATACATCTATGCCAAATCCTGTATTTAAATCAAGTCTACTTTTGAACCTCCAAATT
TGCAAAGCAAACATGACTTTAGGAAAAAACTCAAACAAATAGAACAGTTGATTTTCACTGAATGAGACTTGTATGTCCAATGCATCTCAACTCTACAAATGTTTTCTCTTAAGGTTCCACAATAAAGAACCCATACTACTCTTAAAAAAATCAGACATATTGATACAGCTGGTTAGTTTTTAACATCAAAAGTTAAAGCAGTTTTAAAATGGTGGCACTTATATTCTGGATTTAATGGCTAGAGAATAGTTTTTCTAATCTTCAATTCAAAGTAATAGTGATTTAGGAAATGAAAGTCATCTGCAAAAGATTAACAAATGCCAGCAGTCGCTGTGTAACTCAATGTCTCATGTTCTGTTTTGCAATACAGTATTTCCAAAAAGATAAATATTACATCCATGTAGTCACTAAGTGTGAGAAAACCATGTATTTCAGTGCTACAAACTGTTTCCCTAGAGTTTACACATTGTATTTAATATCTCATAACTATCATACCACATCAGAATTTCACTGCTAATGCAATCCTTTCCATGCAATGTTTTCTCTTTGTCATACGTAAGATGTTACGAGACTGATTCAATAAAAGGAAGCTGGAGTTATCCACGAATAAAGCAGGACTATTACCAAAGATCCAGACAGACCCAGTCCAAAGGAGGGCACATTTCCATAATCAAGCTACAGACAAAATGAACACAAACCAAAGCAAAGAAGGAGAAAAAAAAAACAGCCTGATTCAACCCATTCCCTCCCTACATCTTAGCAAAACATGTACAAATTGAGAAAGTGACCTACCCTTCTAAAGGAGTTTCCCATGTACTTATTAGGATGTCTAGTCTACATCTTTCTTTCTTTCTTTCCTTTTCTCTTCCTTCCTTCCTTTCTTTCTTTTTCTTTCTTCCTTCCCCTTCTCCCATTCTCCCTTTCTCCCTTTCTCCCTTTCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTTTCTTTCTTTCTTTTTTTTTTTACATGGAGTCTTGCTATGTCACCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGTATTACAGGCATGCAACACCACACTCAGCTAAATTTTGTATTTTTAGTAGAGATGAGGTTTCTGCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCTGCCTTGGCCTCCCATATTGCTGAGATTACAGGCGTGAACCACCGCAGCTAGTCATAGTCTACATATTTCATTTTGGGGATCACAGTAACTGGATTTAACTAATCAGTGGGACAGAAGGTTACAATTTGAATGGTTCTGAATTGTTCTGCCATGAGCAATCTAAAAGTGAAAACCAATCTAAACATTTCAGTAGAACCAGAAACTGGACAAGAGAATTTCAGTTCCCTCTACATTGAAAACATTTCTCTTATAGAGTATTGTCCTACAATGCAGGTAAAAAGACCCTGATAAGTCCAAGGTTCCTGGGAAAGTTGCAATGAAACACATTAGACAGGCCTAGGATAAATAATGACAGGTCTCTGTTAGTGCGTGTTATAGTGACATATCTCAGATTTGGATCCTATGCAATTGTGATATCTACTGTTTCATTCATAACCTCATTATTTCATTAATGAAATATAATAATAATTACATAATGATAATTTAGAACCAGTCTTACTCTTTGATGTTTTGGCATTTTAGCTTGTCTAAATTTAGCTTGTCTAAATTTTTTTTTTTTTTTCTTTTTAGAAGGAGTTTCGCTCTTGTTACCCAGGCTGGAGTTCAATGGCACAATCTTGGCTCACCGCAGCCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGATGCGCCACCACACCCGGCTAATTTTTTGTGTGTTTTTAGTAGACACGGGGTTTCTCCATGTTGGTAAGGCTGGTCTCGAACTCCCGACCTCAGCTGTTCTGCCTGCCTCGGCAGGCTGGGATTACAGGTGTGAGACCTGTAATGTAAAAAACACCATCCGAGAGGGTTTTTTTTTTTAAAGGATGCCATAACAAAGTTCCAGGTTTGTAACATATGCACTGCAATATATTCCCATTGTGGCACTTAATGGTTAAAAAATGCTCCAAGAACACTCACTAACTGATGCTGGTCTTTTTATGTAAGGAGGTTTATAATGACAGTTCCATCATACTTAGAGACCTCTTAATGCAATATGCTAAAAAAAAAACCCTTTGGTTCACAATTGTACAGTATCATTAACAGAAATACTTTGTAATAATATACATATATTTCACTGCAGTGTTAATTACCAGAATGTGTTTATATTGCTCCAGAGCCTTTGTGGTATAGGCAACATGGAAGAATTTCCCTAAGCCAGTGATTTTTCTTAACTATGGCTATTTATGGAATTTTGAGTTTTCTTCTGAGTATGTAAATCAATTTTCTTAGTGGTTAGAAAACTACTACTGATTATACTAAAGAACGTAAGATAATCAGAGCTAACCCTTATGATGAGACAATTACAGACATGAACAATTTGGGGTTCCTAAAATTTAGCCTAAGTATTGGCTCTGTAATTCTCATTTTATCATTTTAATTTATAAAATAGTTTTGATTAATGTGGCAAGAGAAAAGAAACATGAACACATTTAAGTAGATTTAAACACAATCATTTAAGTATATTTAAATATAAAAAGTATATTGATGTACCTGTATATAGAAGCCACTTATCATTCATGATAATATGCATGCTGATAAACATATCTCATATGCTCATTTATTAGCCTGTAAGCCCTAAACATTTTATACCTAGAATCGCCTTAAGAACATGAGACAACGTAGTATACAGCCATGAGTTTCATTTTTTTCTAGCTATATTAATAGTCTGCTCTTCACAAAGAGTCAGAATAGCACAGTACAATCCAATTCATTTATGAAGAGAGTCAAATGCATGCTAATCTACTCAGTTATTTTGACAACTTTAATGACTTAATTGACTCACTAACCATGAGTGTGGCTAAGACAATAACTGCTCACACAATGCTCTATTTTATGTCATTCAGGCAAAATGTTATTTTCCTCTAGGACTGTATTTTCCTCTAGGACTAATAATTGACTTGCAAAATTTAATTACACAGTTTTTGAAAACACAGTGTCAAACATTTAAAAAAAGAAAAGTTTAAAATGAAAAAATATTTAATACTTTAAAGGGCAATTTAAAAAATTCCCTTAGAAATTGTTAAGTTTAGAAATAGCACATACACATATAATTCTGGTAGAATGAAAACATCATTCAGTGGGTCGGGCATAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGCGGCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAAAACTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCACAAAAAACAAACAAACATCATTCAATGAAAAAGTCATCAGATTCTTTCATAGTCTACATAAACACTTTTTTATAATAAAAATCACAGTTTTTTGAAAAATATAAAGATGATATAAATTAATTTTAGTTTTCACATACATGCTTTAGTTCATAAAATACTTTTCTAAGAAAAAATAAATTTTATTCTTGTATTCTAATTCTCATTATTTTGCATTGGGGTTAGGAGAAAAGTGACTCTAGTATTTCTGTACAGAAATGTATATTAGCTCATCTAACTTGTATACATTAAAAAAGTAAACTAAAAATCAAGATTTTCTTTCTTCTAAAAAACTATTTTCATAATTTTGAATAGAGCAGAAGATATTTTCCAATTGTTAAGCTGTATTAAAACTTACAACTGAGGGGCAATAAAAGTGATACATCTATGCCAAATCCTGTATTTAAATCAAGTCTACTTTTGAA
pathogenic
71,353
Variant in gene GBE1 (1,4-alpha-glucan branching enzyme 1), located at chromosome 3 position 81493813: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Adult_polyglucosan_body_disease', 'Adult_polyglucosan_body_neuropathy']
TGCAAAGCAAACATGACTTTAGGAAAAAACTCAAACAAATAGAACAGTTGATTTTCACTGAATGAGACTTGTATGTCCAATGCATCTCAACTCTACAAATGTTTTCTCTTAAGGTTCCACAATAAAGAACCCATACTACTCTTAAAAAAATCAGACATATTGATACAGCTGGTTAGTTTTTAACATCAAAAGTTAAAGCAGTTTTAAAATGGTGGCACTTATATTCTGGATTTAATGGCTAGAGAATAGTTTTTCTAATCTTCAATTCAAAGTAATAGTGATTTAGGAAATGAAAGTCATCTGCAAAAGATTAACAAATGCCAGCAGTCGCTGTGTAACTCAATGTCTCATGTTCTGTTTTGCAATACAGTATTTCCAAAAAGATAAATATTACATCCATGTAGTCACTAAGTGTGAGAAAACCATGTATTTCAGTGCTACAAACTGTTTCCCTAGAGTTTACACATTGTATTTAATATCTCATAACTATCATACCACATCAGAATTTCACTGCTAATGCAATCCTTTCCATGCAATGTTTTCTCTTTGTCATACGTAAGATGTTACGAGACTGATTCAATAAAAGGAAGCTGGAGTTATCCACGAATAAAGCAGGACTATTACCAAAGATCCAGACAGACCCAGTCCAAAGGAGGGCACATTTCCATAATCAAGCTACAGACAAAATGAACACAAACCAAAGCAAAGAAGGAGAAAAAAAAAACAGCCTGATTCAACCCATTCCCTCCCTACATCTTAGCAAAACATGTACAAATTGAGAAAGTGACCTACCCTTCTAAAGGAGTTTCCCATGTACTTATTAGGATGTCTAGTCTACATCTTTCTTTCTTTCTTTCCTTTTCTCTTCCTTCCTTCCTTTCTTTCTTTTTCTTTCTTCCTTCCCCTTCTCCCATTCTCCCTTTCTCCCTTTCTCCCTTTCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTTTCTTTCTTTCTTTTTTTTTTTACATGGAGTCTTGCTATGTCACCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGTATTACAGGCATGCAACACCACACTCAGCTAAATTTTGTATTTTTAGTAGAGATGAGGTTTCTGCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCTGCCTTGGCCTCCCATATTGCTGAGATTACAGGCGTGAACCACCGCAGCTAGTCATAGTCTACATATTTCATTTTGGGGATCACAGTAACTGGATTTAACTAATCAGTGGGACAGAAGGTTACAATTTGAATGGTTCTGAATTGTTCTGCCATGAGCAATCTAAAAGTGAAAACCAATCTAAACATTTCAGTAGAACCAGAAACTGGACAAGAGAATTTCAGTTCCCTCTACATTGAAAACATTTCTCTTATAGAGTATTGTCCTACAATGCAGGTAAAAAGACCCTGATAAGTCCAAGGTTCCTGGGAAAGTTGCAATGAAACACATTAGACAGGCCTAGGATAAATAATGACAGGTCTCTGTTAGTGCGTGTTATAGTGACATATCTCAGATTTGGATCCTATGCAATTGTGATATCTACTGTTTCATTCATAACCTCATTATTTCATTAATGAAATATAATAATAATTACATAATGATAATTTAGAACCAGTCTTACTCTTTGATGTTTTGGCATTTTAGCTTGTCTAAATTTAGCTTGTCTAAATTTTTTTTTTTTTTTCTTTTTAGAAGGAGTTTCGCTCTTGTTACCCAGGCTGGAGTTCAATGGCACAATCTTGGCTCACCGCAGCCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGATGCGCCACCACACCCGGCTAATTTTTTGTGTGTTTTTAGTAGACACGGGGTTTCTCCATGTTGGTAAGGCTGGTCTCGAACTCCCGACCTCAGCTGTTCTGCCTGCCTCGGCAGGCTGGGATTACAGGTGTGAGCCACCACACCCATCCGAGAGGGTTTTTTTTTTTAAAGGATGCCATAACAAAGTTCCAGGTTTGTAACATATGCACTGCAATATATTCCCATTGTGGCACTTAATGGTTAAAAAATGCTCCAAGAACACTCACTAACTGATGCTGGTCTTTTTATGTAAGGAGGTTTATAATGACAGTTCCATCATACTTAGAGACCTCTTAATGCAATATGCTAAAAAAAAAACCCTTTGGTTCACAATTGTACAGTATCATTAACAGAAATACTTTGTAATAATATACATATATTTCACTGCAGTGTTAATTACCAGAATGTGTTTATATTGCTCCAGAGCCTTTGTGGTATAGGCAACATGGAAGAATTTCCCTAAGCCAGTGATTTTTCTTAACTATGGCTATTTATGGAATTTTGAGTTTTCTTCTGAGTATGTAAATCAATTTTCTTAGTGGTTAGAAAACTACTACTGATTATACTAAAGAACGTAAGATAATCAGAGCTAACCCTTATGATGAGACAATTACAGACATGAACAATTTGGGGTTCCTAAAATTTAGCCTAAGTATTGGCTCTGTAATTCTCATTTTATCATTTTAATTTATAAAATAGTTTTGATTAATGTGGCAAGAGAAAAGAAACATGAACACATTTAAGTAGATTTAAACACAATCATTTAAGTATATTTAAATATAAAAAGTATATTGATGTACCTGTATATAGAAGCCACTTATCATTCATGATAATATGCATGCTGATAAACATATCTCATATGCTCATTTATTAGCCTGTAAGCCCTAAACATTTTATACCTAGAATCGCCTTAAGAACATGAGACAACGTAGTATACAGCCATGAGTTTCATTTTTTTCTAGCTATATTAATAGTCTGCTCTTCACAAAGAGTCAGAATAGCACAGTACAATCCAATTCATTTATGAAGAGAGTCAAATGCATGCTAATCTACTCAGTTATTTTGACAACTTTAATGACTTAATTGACTCACTAACCATGAGTGTGGCTAAGACAATAACTGCTCACACAATGCTCTATTTTATGTCATTCAGGCAAAATGTTATTTTCCTCTAGGACTGTATTTTCCTCTAGGACTAATAATTGACTTGCAAAATTTAATTACACAGTTTTTGAAAACACAGTGTCAAACATTTAAAAAAAGAAAAGTTTAAAATGAAAAAATATTTAATACTTTAAAGGGCAATTTAAAAAATTCCCTTAGAAATTGTTAAGTTTAGAAATAGCACATACACATATAATTCTGGTAGAATGAAAACATCATTCAGTGGGTCGGGCATAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGCGGCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAAAACTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCACAAAAAACAAACAAACATCATTCAATGAAAAAGTCATCAGATTCTTTCATAGTCTACATAAACACTTTTTTATAATAAAAATCACAGTTTTTTGAAAAATATAAAGATGATATAAATTAATTTTAGTTTTCACATACATGCTTTAGTTCATAAAATACTTTTCTAAGAAAAAATAAATTTTATTCTTGTATTCTAATTCTCATTATTTTGCATTGGGGTTAGGAGAAAAGTGACTCTAGTATTTCTGTACAGAAATGTATATTAGCTCATCTAACTTGTATACATTAAAAAAGTAAACTAAAAATCAAGATTTTCTTTCTTCTAAAAAACTATTTTCATAATTTTGAATAGAGCAGAAGATATTTTCCAATTGTTAAGCTGTATTAAAACTTACAACTGAGGGGCAATAAAAGTGATACATCTATGCCAAATCCTGTATTTAAATCAAGTCTACTTTTGAACCTCCAAATT
TGCAAAGCAAACATGACTTTAGGAAAAAACTCAAACAAATAGAACAGTTGATTTTCACTGAATGAGACTTGTATGTCCAATGCATCTCAACTCTACAAATGTTTTCTCTTAAGGTTCCACAATAAAGAACCCATACTACTCTTAAAAAAATCAGACATATTGATACAGCTGGTTAGTTTTTAACATCAAAAGTTAAAGCAGTTTTAAAATGGTGGCACTTATATTCTGGATTTAATGGCTAGAGAATAGTTTTTCTAATCTTCAATTCAAAGTAATAGTGATTTAGGAAATGAAAGTCATCTGCAAAAGATTAACAAATGCCAGCAGTCGCTGTGTAACTCAATGTCTCATGTTCTGTTTTGCAATACAGTATTTCCAAAAAGATAAATATTACATCCATGTAGTCACTAAGTGTGAGAAAACCATGTATTTCAGTGCTACAAACTGTTTCCCTAGAGTTTACACATTGTATTTAATATCTCATAACTATCATACCACATCAGAATTTCACTGCTAATGCAATCCTTTCCATGCAATGTTTTCTCTTTGTCATACGTAAGATGTTACGAGACTGATTCAATAAAAGGAAGCTGGAGTTATCCACGAATAAAGCAGGACTATTACCAAAGATCCAGACAGACCCAGTCCAAAGGAGGGCACATTTCCATAATCAAGCTACAGACAAAATGAACACAAACCAAAGCAAAGAAGGAGAAAAAAAAAACAGCCTGATTCAACCCATTCCCTCCCTACATCTTAGCAAAACATGTACAAATTGAGAAAGTGACCTACCCTTCTAAAGGAGTTTCCCATGTACTTATTAGGATGTCTAGTCTACATCTTTCTTTCTTTCTTTCCTTTTCTCTTCCTTCCTTCCTTTCTTTCTTTTTCTTTCTTCCTTCCCCTTCTCCCATTCTCCCTTTCTCCCTTTCTCCCTTTCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTTTCTTTCTTTCTTTTTTTTTTTACATGGAGTCTTGCTATGTCACCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCTCCGCCTCCCAGGTTCAAGCCATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGTATTACAGGCATGCAACACCACACTCAGCTAAATTTTGTATTTTTAGTAGAGATGAGGTTTCTGCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCTGCCTGCCTTGGCCTCCCATATTGCTGAGATTACAGGCGTGAACCACCGCAGCTAGTCATAGTCTACATATTTCATTTTGGGGATCACAGTAACTGGATTTAACTAATCAGTGGGACAGAAGGTTACAATTTGAATGGTTCTGAATTGTTCTGCCATGAGCAATCTAAAAGTGAAAACCAATCTAAACATTTCAGTAGAACCAGAAACTGGACAAGAGAATTTCAGTTCCCTCTACATTGAAAACATTTCTCTTATAGAGTATTGTCCTACAATGCAGGTAAAAAGACCCTGATAAGTCCAAGGTTCCTGGGAAAGTTGCAATGAAACACATTAGACAGGCCTAGGATAAATAATGACAGGTCTCTGTTAGTGCGTGTTATAGTGACATATCTCAGATTTGGATCCTATGCAATTGTGATATCTACTGTTTCATTCATAACCTCATTATTTCATTAATGAAATATAATAATAATTACATAATGATAATTTAGAACCAGTCTTACTCTTTGATGTTTTGGCATTTTAGCTTGTCTAAATTTAGCTTGTCTAAATTTTTTTTTTTTTTTCTTTTTAGAAGGAGTTTCGCTCTTGTTACCCAGGCTGGAGTTCAATGGCACAATCTTGGCTCACCGCAGCCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGGATGCGCCACCACACCCGGCTAATTTTTTGTGTGTTTTTAGTAGACACGGGGTTTCTCCATGTTGGTAAGGCTGGTCTCGAACTCCCGACCTCAGCTGTTCTGCCTGCCTCGGCAGGCTGGGATTACAGGTGTGAGACCTGTCATGTAAAAAACACCATCCGAGAGGGTTTTTTTTTTTAAAGGATGCCATAACAAAGTTCCAGGTTTGTAACATATGCACTGCAATATATTCCCATTGTGGCACTTAATGGTTAAAAAATGCTCCAAGAACACTCACTAACTGATGCTGGTCTTTTTATGTAAGGAGGTTTATAATGACAGTTCCATCATACTTAGAGACCTCTTAATGCAATATGCTAAAAAAAAAACCCTTTGGTTCACAATTGTACAGTATCATTAACAGAAATACTTTGTAATAATATACATATATTTCACTGCAGTGTTAATTACCAGAATGTGTTTATATTGCTCCAGAGCCTTTGTGGTATAGGCAACATGGAAGAATTTCCCTAAGCCAGTGATTTTTCTTAACTATGGCTATTTATGGAATTTTGAGTTTTCTTCTGAGTATGTAAATCAATTTTCTTAGTGGTTAGAAAACTACTACTGATTATACTAAAGAACGTAAGATAATCAGAGCTAACCCTTATGATGAGACAATTACAGACATGAACAATTTGGGGTTCCTAAAATTTAGCCTAAGTATTGGCTCTGTAATTCTCATTTTATCATTTTAATTTATAAAATAGTTTTGATTAATGTGGCAAGAGAAAAGAAACATGAACACATTTAAGTAGATTTAAACACAATCATTTAAGTATATTTAAATATAAAAAGTATATTGATGTACCTGTATATAGAAGCCACTTATCATTCATGATAATATGCATGCTGATAAACATATCTCATATGCTCATTTATTAGCCTGTAAGCCCTAAACATTTTATACCTAGAATCGCCTTAAGAACATGAGACAACGTAGTATACAGCCATGAGTTTCATTTTTTTCTAGCTATATTAATAGTCTGCTCTTCACAAAGAGTCAGAATAGCACAGTACAATCCAATTCATTTATGAAGAGAGTCAAATGCATGCTAATCTACTCAGTTATTTTGACAACTTTAATGACTTAATTGACTCACTAACCATGAGTGTGGCTAAGACAATAACTGCTCACACAATGCTCTATTTTATGTCATTCAGGCAAAATGTTATTTTCCTCTAGGACTGTATTTTCCTCTAGGACTAATAATTGACTTGCAAAATTTAATTACACAGTTTTTGAAAACACAGTGTCAAACATTTAAAAAAAGAAAAGTTTAAAATGAAAAAATATTTAATACTTTAAAGGGCAATTTAAAAAATTCCCTTAGAAATTGTTAAGTTTAGAAATAGCACATACACATATAATTCTGGTAGAATGAAAACATCATTCAGTGGGTCGGGCATAGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGTGCGGCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAAAACTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCACAAAAAACAAACAAACATCATTCAATGAAAAAGTCATCAGATTCTTTCATAGTCTACATAAACACTTTTTTATAATAAAAATCACAGTTTTTTGAAAAATATAAAGATGATATAAATTAATTTTAGTTTTCACATACATGCTTTAGTTCATAAAATACTTTTCTAAGAAAAAATAAATTTTATTCTTGTATTCTAATTCTCATTATTTTGCATTGGGGTTAGGAGAAAAGTGACTCTAGTATTTCTGTACAGAAATGTATATTAGCTCATCTAACTTGTATACATTAAAAAAGTAAACTAAAAATCAAGATTTTCTTTCTTCTAAAAAACTATTTTCATAATTTTGAATAGAGCAGAAGATATTTTCCAATTGTTAAGCTGTATTAAAACTTACAACTGAGGGGCAATAAAAGTGATACATCTATGCCAAATCCTGTATTTAAATCAAGTCTACTTTTGAA
pathogenic
71,354
Variant chromosome 3, position 81535304, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic? Disease(s)?
pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
TTTGTTTGGATTTCCTCATGGAAATGAAGAGGACATTTGTTTCCCAGAATAGTACTGTACTTCTTTAGTGTAGATAACCCATCACATTGATTTATCTGTAGGCATAAAGAGACAGACAACACAGCGCATTCTGTGGGTTAACTGGAGCACATTTGTGCTATCAGTCACAACTACAGCCTCCTCTCCTAGATGCTCTGATGTTATGTGGAACAGTGATTGGCTGGGTGGGAAGAAAGTAGGGAACCATCTCTCTTTGCCCTCAATGTCACTGAGCAGCATGGGGTGGTGACAGATGCTGCAGGCTACTTACTAAAAAGCACTGTCTGTTTTCTTCTTACTGTCAGAGTAAAATTCTGTCTGGGTGTCCACTTCATCAAGGGATGTCTTCCTGAGACTCAGGGGTAATTCCTGATTAAGCCACTCATGTTAATATCATTCTTCTTCCTAGAAAATTTTTCTGGGAGATGTGAGACCCAACTCTGGTCAATAAAATATGAAAGAAATTTTGCTAAAGAAGTAAGTTTATTCTTGAAGAGATGCACAAAAAAATCTGTTTGCATTTTGTTGTATCTGAAGGTGGGTGACACTTGGAGTCATGGCTCTTATCTAATGATTAGTAACAGGTGCCACCATTTGGACATTGCTGGCACCCTGAGAATTGAAAGCAAAAAGAATGAACTGGGGAACTTGATACTGTCACAAGTGCTGGGGAAACTAGACGTTAGGGTTTTTATTATGTGACAAATACATTTTCCTTATTATTTGAGCCAGCTGAGTAGGAGGGTTTCTTTATTGTAGCTGGAGCCACCCTGACACATAGGACTTCATGTTGGCATCAGGCACCTTGCTCAGGTGGCAGATGCTAATCATTGTTAGGGCTTCAGGGGGCAAGCACATTATTTCTATTGCCTGCTTGAAAAATTGTGCTGATTTATTGCTAGGTCCTGAATCTGTCATTTTTTTCATGGATCTAGTAACATGTCTTTAAAATGTACTGTACATTTCCTTTGTAATAATTATCAAACTTACAATGCCTAATATTTATCTTCTTTACTAGTTTAAAAGCTCTATGACGGCAGTGACTGTATCTGCTAGGAGAATTCCTATATTTACAGTAATCAGCTCAGAGCTGTCACAGAGGTGTTCAGTAAATAGGTACTCAGTAAGTATCTATAAGGTGTTCAGTAAATAGGTACTCAGTAAGTATCTGTAAAATGCATGAAAAAAGGAGTAAATGAATACATAGAGAACATCAAAAACATTCTCCCTGGTTATTTCTACTGCTCACACCTCCCCTGCCTTGCCTTCTTACCAATTCAGGCCTACAAAGGTATGCTGTGTCTTGAATTTTAGGAGAAGAAACAGAAAAAGGAAGGACACTATCATTACAACTACTGTTTGCTCTCTCCCACTGAGTGGAGGAAAAGAAACAAGTCTCAGAGGTAACTTACAAAATATTTTCATAGAGTAAAACTACAATCGTCTCCCATATTGCTGCTCTAAATATTATTTAAGAAATATTATTTAAGAAATATTCAGTTATACTTTTTAAAGCCTGGTCCCCTAAGTCCAGAGCCTCTGCTATTATCTCAGAAGACTTCATTTATTGTCTTCTGTATTGGTGGATGTGGGGACCTGGAGAGCAGGGCTCCATAGTGAAACCTTCAGGACAGCAAGATCCACAGCTCTTTCCTTTGATGTGAACCACGTCTGCACTAACCCCTCTGTTTAAACCCAAAATGAAGCTTAGGAATAATTCAGTATAACTGAGTCGAGCAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCATGTTTTTCACTCACGTAGGCCTGCAAGAATTAGCACACATGTTACATTTAAATAATACCTAGATGCTGCTACAAGTACATTATTTTTTGTCTTTCTTAATAGTCTGGTTATTAAACCAAAAATGAGTATTTCAGAACACTATATTTTTTTGAACATGTTACAATTTTGCTGTACCTAACTGTGAGCCAAGAACAGTCTCAAAAATTGTTTAGTGGAGTATACAAAGCTCACCAGCCACTTGCTACCCTCATAGCACAAATAGAGAAACAGTGTTGTGGCTCAGGTTTTAAGTAAAACCATGGTACCTATACATACTACAAAGTGTTCGTTTGTATATATTAGATCTACTTATAAGTGAATTTTCTGTAAGACTTTTAGTCTCCAGCTTAATGCGGTTAGGTACATAAAATTACTTTTCAAAATTTAATGTAACATTTTTATTTTAATGTAGTTTCTGAAATTACAGTTCTCTTAAACATTTTACATTTTTACCCAACTTTGTCAGATTCAATGGCAACCTAAAGTCAATTACAATACTTTTTTTTCTTAATAAAAAGATAAGGTCTGAAAAGAAATTACATCTGTAAACTCTCTTCTTTTCTTCATCATCATGTATTTACAGTTGGCTGTGAAAAGCCTTGGCTTTTTCAACACCACCCTCACTCAGCCCCAGCTTTGAGAGGACTTATTGCCATGCATACCCGCAGCACCACTCTTGGTAATTTAGAAATGTGAACTACAGCTCTAGAGTAAACAGGGTGCCTTTTGGTATTCAACGTTGTTCCTATTGAAAAGGAGCATCATTTTGCTCTCTCTTCTGGAAATAGCATTACTAATAAACGTGATTAGGGCATTCGTGTCATGGAACAAATCTTACTGAATATATAAATACCTTTGTTCAGCCATTAAAAAAAAAAGAATCATAGACACCAAAGTAAAAACACATCAACAGTAATTTCAAACAGCCCCAGTATAAAGTAAATGGATTATAACGAAGACATATTATATGTTAACTTTTGCCAGGAAAAAAGAAGCCTGTATAAAATTTTCACTTGTTAATTACATTTTCTAAAATTTGTTGAAAACTGAGACATTAATTCCAGAGGACAGACAGGCTCATGAAAAATACAAAACAGCATGCAGGTATAATGGCATCTATTGAAATGACAAGTTAGAGGCCACTAAAGAAGAGAAAAAAAAATGAATAAAGAAATTTACATGTTGTCAAAGTAGTTTCTTTATGACAGCATAATTATTTACATAAAAAAGTGTTCCAAACAATTAAGATGTTTCCACAGCAATTTCCAAAATGGGTTCCCTGCAGAGCTTTTATTGTTTATTTTAACCAATAAAAATACAAATTACTAAATTTAAACAGTAACAAACAAACCAGGAAACTAAGCAGGGCATTATGTTTAAGATTTTCATTATCAATTGAAGAGACTTCAGTGACATGTTTTGACAACCTGAAGTATGGTACAGGACACTAGACACTGAATAATAAATTGCTGTTTAAAAGATCTGCATAGAGATTTAAATTGGTTGCCATTCTAGGCATGTACCTCATTGGTGACTAAAACACAGCATCCAGAGTGAAGAGCTTACCTGTGGAGCTGCAAGCCAACCATATCTTTCTTCCAATCTATTCATATCCCTGTCAAAATTATTTAGGAACTTGTAGCGAAGAAGGTCGTCGTCAGTTAAATGAAACTGCCGCCTGGCATAATGGTAACTCTCATTATTTCCTTTTCTTGGGAAGTCTAACCATTCAGGATGCCCAAATTCATTACCTGCATTACAAAACACATGCAAATATCAGCCTATTAATATTAGAATTTCTTACTAATAATAAATCAATAATTATATGTTTTTAATGTTTTTTAAATTTAGTTTAGGCTATCATTTACTAGACCTGTGTCCTGTGAATGATGTACAGGTGTAGCTCAAAAATAGCACGGTCTAGCACAGGAAGTACCACCTTTGGACTCAGAAGCCCAGGGTCCAGCTTCAGTTTGGCTGCTCATTACTTGTTGCACATCTTGGTTT
TTTGTTTGGATTTCCTCATGGAAATGAAGAGGACATTTGTTTCCCAGAATAGTACTGTACTTCTTTAGTGTAGATAACCCATCACATTGATTTATCTGTAGGCATAAAGAGACAGACAACACAGCGCATTCTGTGGGTTAACTGGAGCACATTTGTGCTATCAGTCACAACTACAGCCTCCTCTCCTAGATGCTCTGATGTTATGTGGAACAGTGATTGGCTGGGTGGGAAGAAAGTAGGGAACCATCTCTCTTTGCCCTCAATGTCACTGAGCAGCATGGGGTGGTGACAGATGCTGCAGGCTACTTACTAAAAAGCACTGTCTGTTTTCTTCTTACTGTCAGAGTAAAATTCTGTCTGGGTGTCCACTTCATCAAGGGATGTCTTCCTGAGACTCAGGGGTAATTCCTGATTAAGCCACTCATGTTAATATCATTCTTCTTCCTAGAAAATTTTTCTGGGAGATGTGAGACCCAACTCTGGTCAATAAAATATGAAAGAAATTTTGCTAAAGAAGTAAGTTTATTCTTGAAGAGATGCACAAAAAAATCTGTTTGCATTTTGTTGTATCTGAAGGTGGGTGACACTTGGAGTCATGGCTCTTATCTAATGATTAGTAACAGGTGCCACCATTTGGACATTGCTGGCACCCTGAGAATTGAAAGCAAAAAGAATGAACTGGGGAACTTGATACTGTCACAAGTGCTGGGGAAACTAGACGTTAGGGTTTTTATTATGTGACAAATACATTTTCCTTATTATTTGAGCCAGCTGAGTAGGAGGGTTTCTTTATTGTAGCTGGAGCCACCCTGACACATAGGACTTCATGTTGGCATCAGGCACCTTGCTCAGGTGGCAGATGCTAATCATTGTTAGGGCTTCAGGGGGCAAGCACATTATTTCTATTGCCTGCTTGAAAAATTGTGCTGATTTATTGCTAGGTCCTGAATCTGTCATTTTTTTCATGGATCTAGTAACATGTCTTTAAAATGTACTGTACATTTCCTTTGTAATAATTATCAAACTTACAATGCCTAATATTTATCTTCTTTACTAGTTTAAAAGCTCTATGACGGCAGTGACTGTATCTGCTAGGAGAATTCCTATATTTACAGTAATCAGCTCAGAGCTGTCACAGAGGTGTTCAGTAAATAGGTACTCAGTAAGTATCTATAAGGTGTTCAGTAAATAGGTACTCAGTAAGTATCTGTAAAATGCATGAAAAAAGGAGTAAATGAATACATAGAGAACATCAAAAACATTCTCCCTGGTTATTTCTACTGCTCACACCTCCCCTGCCTTGCCTTCTTACCAATTCAGGCCTACAAAGGTATGCTGTGTCTTGAATTTTAGGAGAAGAAACAGAAAAAGGAAGGACACTATCATTACAACTACTGTTTGCTCTCTCCCACTGAGTGGAGGAAAAGAAACAAGTCTCAGAGGTAACTTACAAAATATTTTCATAGAGTAAAACTACAATCGTCTCCCATATTGCTGCTCTAAATATTATTTAAGAAATATTATTTAAGAAATATTCAGTTATACTTTTTAAAGCCTGGTCCCCTAAGTCCAGAGCCTCTGCTATTATCTCAGAAGACTTCATTTATTGTCTTCTGTATTGGTGGATGTGGGGACCTGGAGAGCAGGGCTCCATAGTGAAACCTTCAGGACAGCAAGATCCACAGCTCTTTCCTTTGATGTGAACCACGTCTGCACTAACCCCTCTGTTTAAACCCAAAATGAAGCTTAGGAATAATTCAGTATAACTGAGTCGAGCAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCGTTTTTCACTCACGTAGGCCTGCAAGAATTAGCACACATGTTACATTTAAATAATACCTAGATGCTGCTACAAGTACATTATTTTTTGTCTTTCTTAATAGTCTGGTTATTAAACCAAAAATGAGTATTTCAGAACACTATATTTTTTTGAACATGTTACAATTTTGCTGTACCTAACTGTGAGCCAAGAACAGTCTCAAAAATTGTTTAGTGGAGTATACAAAGCTCACCAGCCACTTGCTACCCTCATAGCACAAATAGAGAAACAGTGTTGTGGCTCAGGTTTTAAGTAAAACCATGGTACCTATACATACTACAAAGTGTTCGTTTGTATATATTAGATCTACTTATAAGTGAATTTTCTGTAAGACTTTTAGTCTCCAGCTTAATGCGGTTAGGTACATAAAATTACTTTTCAAAATTTAATGTAACATTTTTATTTTAATGTAGTTTCTGAAATTACAGTTCTCTTAAACATTTTACATTTTTACCCAACTTTGTCAGATTCAATGGCAACCTAAAGTCAATTACAATACTTTTTTTTCTTAATAAAAAGATAAGGTCTGAAAAGAAATTACATCTGTAAACTCTCTTCTTTTCTTCATCATCATGTATTTACAGTTGGCTGTGAAAAGCCTTGGCTTTTTCAACACCACCCTCACTCAGCCCCAGCTTTGAGAGGACTTATTGCCATGCATACCCGCAGCACCACTCTTGGTAATTTAGAAATGTGAACTACAGCTCTAGAGTAAACAGGGTGCCTTTTGGTATTCAACGTTGTTCCTATTGAAAAGGAGCATCATTTTGCTCTCTCTTCTGGAAATAGCATTACTAATAAACGTGATTAGGGCATTCGTGTCATGGAACAAATCTTACTGAATATATAAATACCTTTGTTCAGCCATTAAAAAAAAAAGAATCATAGACACCAAAGTAAAAACACATCAACAGTAATTTCAAACAGCCCCAGTATAAAGTAAATGGATTATAACGAAGACATATTATATGTTAACTTTTGCCAGGAAAAAAGAAGCCTGTATAAAATTTTCACTTGTTAATTACATTTTCTAAAATTTGTTGAAAACTGAGACATTAATTCCAGAGGACAGACAGGCTCATGAAAAATACAAAACAGCATGCAGGTATAATGGCATCTATTGAAATGACAAGTTAGAGGCCACTAAAGAAGAGAAAAAAAAATGAATAAAGAAATTTACATGTTGTCAAAGTAGTTTCTTTATGACAGCATAATTATTTACATAAAAAAGTGTTCCAAACAATTAAGATGTTTCCACAGCAATTTCCAAAATGGGTTCCCTGCAGAGCTTTTATTGTTTATTTTAACCAATAAAAATACAAATTACTAAATTTAAACAGTAACAAACAAACCAGGAAACTAAGCAGGGCATTATGTTTAAGATTTTCATTATCAATTGAAGAGACTTCAGTGACATGTTTTGACAACCTGAAGTATGGTACAGGACACTAGACACTGAATAATAAATTGCTGTTTAAAAGATCTGCATAGAGATTTAAATTGGTTGCCATTCTAGGCATGTACCTCATTGGTGACTAAAACACAGCATCCAGAGTGAAGAGCTTACCTGTGGAGCTGCAAGCCAACCATATCTTTCTTCCAATCTATTCATATCCCTGTCAAAATTATTTAGGAACTTGTAGCGAAGAAGGTCGTCGTCAGTTAAATGAAACTGCCGCCTGGCATAATGGTAACTCTCATTATTTCCTTTTCTTGGGAAGTCTAACCATTCAGGATGCCCAAATTCATTACCTGCATTACAAAACACATGCAAATATCAGCCTATTAATATTAGAATTTCTTACTAATAATAAATCAATAATTATATGTTTTTAATGTTTTTTAAATTTAGTTTAGGCTATCATTTACTAGACCTGTGTCCTGTGAATGATGTACAGGTGTAGCTCAAAAATAGCACGGTCTAGCACAGGAAGTACCACCTTTGGACTCAGAAGCCCAGGGTCCAGCTTCAGTTTGGCTGCTCATTACTTGTTGCACATCTTGGTTTNN
pathogenic
71,365
Clinically, how would you classify the variant at chromosome 3, position 81536902, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
TTCATTTATTGTCTTCTGTATTGGTGGATGTGGGGACCTGGAGAGCAGGGCTCCATAGTGAAACCTTCAGGACAGCAAGATCCACAGCTCTTTCCTTTGATGTGAACCACGTCTGCACTAACCCCTCTGTTTAAACCCAAAATGAAGCTTAGGAATAATTCAGTATAACTGAGTCGAGCAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCATGTTTTTCACTCACGTAGGCCTGCAAGAATTAGCACACATGTTACATTTAAATAATACCTAGATGCTGCTACAAGTACATTATTTTTTGTCTTTCTTAATAGTCTGGTTATTAAACCAAAAATGAGTATTTCAGAACACTATATTTTTTTGAACATGTTACAATTTTGCTGTACCTAACTGTGAGCCAAGAACAGTCTCAAAAATTGTTTAGTGGAGTATACAAAGCTCACCAGCCACTTGCTACCCTCATAGCACAAATAGAGAAACAGTGTTGTGGCTCAGGTTTTAAGTAAAACCATGGTACCTATACATACTACAAAGTGTTCGTTTGTATATATTAGATCTACTTATAAGTGAATTTTCTGTAAGACTTTTAGTCTCCAGCTTAATGCGGTTAGGTACATAAAATTACTTTTCAAAATTTAATGTAACATTTTTATTTTAATGTAGTTTCTGAAATTACAGTTCTCTTAAACATTTTACATTTTTACCCAACTTTGTCAGATTCAATGGCAACCTAAAGTCAATTACAATACTTTTTTTTCTTAATAAAAAGATAAGGTCTGAAAAGAAATTACATCTGTAAACTCTCTTCTTTTCTTCATCATCATGTATTTACAGTTGGCTGTGAAAAGCCTTGGCTTTTTCAACACCACCCTCACTCAGCCCCAGCTTTGAGAGGACTTATTGCCATGCATACCCGCAGCACCACTCTTGGTAATTTAGAAATGTGAACTACAGCTCTAGAGTAAACAGGGTGCCTTTTGGTATTCAACGTTGTTCCTATTGAAAAGGAGCATCATTTTGCTCTCTCTTCTGGAAATAGCATTACTAATAAACGTGATTAGGGCATTCGTGTCATGGAACAAATCTTACTGAATATATAAATACCTTTGTTCAGCCATTAAAAAAAAAAGAATCATAGACACCAAAGTAAAAACACATCAACAGTAATTTCAAACAGCCCCAGTATAAAGTAAATGGATTATAACGAAGACATATTATATGTTAACTTTTGCCAGGAAAAAAGAAGCCTGTATAAAATTTTCACTTGTTAATTACATTTTCTAAAATTTGTTGAAAACTGAGACATTAATTCCAGAGGACAGACAGGCTCATGAAAAATACAAAACAGCATGCAGGTATAATGGCATCTATTGAAATGACAAGTTAGAGGCCACTAAAGAAGAGAAAAAAAAATGAATAAAGAAATTTACATGTTGTCAAAGTAGTTTCTTTATGACAGCATAATTATTTACATAAAAAAGTGTTCCAAACAATTAAGATGTTTCCACAGCAATTTCCAAAATGGGTTCCCTGCAGAGCTTTTATTGTTTATTTTAACCAATAAAAATACAAATTACTAAATTTAAACAGTAACAAACAAACCAGGAAACTAAGCAGGGCATTATGTTTAAGATTTTCATTATCAATTGAAGAGACTTCAGTGACATGTTTTGACAACCTGAAGTATGGTACAGGACACTAGACACTGAATAATAAATTGCTGTTTAAAAGATCTGCATAGAGATTTAAATTGGTTGCCATTCTAGGCATGTACCTCATTGGTGACTAAAACACAGCATCCAGAGTGAAGAGCTTACCTGTGGAGCTGCAAGCCAACCATATCTTTCTTCCAATCTATTCATATCCCTGTCAAAATTATTTAGGAACTTGTAGCGAAGAAGGTCGTCGTCAGTTAAATGAAACTGCCGCCTGGCATAATGGTAACTCTCATTATTTCCTTTTCTTGGGAAGTCTAACCATTCAGGATGCCCAAATTCATTACCTGCATTACAAAACACATGCAAATATCAGCCTATTAATATTAGAATTTCTTACTAATAATAAATCAATAATTATATGTTTTTAATGTTTTTTAAATTTAGTTTAGGCTATCATTTACTAGACCTGTGTCCTGTGAATGATGTACAGGTGTAGCTCAAAAATAGCACGGTCTAGCACAGGAAGTACCACCTTTGGACTCAGAAGCCCAGGGTCCAGCTTCAGTTTGGCTGCTCATTACTTGTTGCACATCTTGGTTTCCTCAAGCACAAACTGAAGACAATTATCAATGTCATACTTATTTCATTTCTGAAATAATCTCTGCGATCTCAGAGTAATTTCTGAAATATCTATTTCTATAATCTCTGAAATCTGTACAATTCTTGACAATTTCCAAAGGCTTTGTATGTAGGTTATTTTTTGATCCTCAAAGGAACTCTCTATTATATTCATTTCACAGATGAGAAATCCAAAGCTCTGGCCAGTTAAGAGACTTGCCCAACTTCACATAGTGGGAAAGCAACCATTAAAATTGAGTTCCTCTCATTAAAATCCAGTTTTTCCTACCACATCACATTAGGCAAATATCTTGTAAACTTCAGGTGCTAAGGAAACTCAGGTCATTACTTTTATTATGAATTTTCCGTATTTCTTTTTCAGATCTATTTTTTACTACTAGAGTGTGTACCTTTCATTTCAAGTGTGCCTGCATGCTTATGCTTATTCTTCTGTGTGTTTAGCTGAGACCCCTGGCTGGGGATCTATATAATATTATCTCTCACTATAATGATCAGAACCAGAAACCCAATAAACTTAAAAATAAAATAAAACAGTAACAAATACATAGTTTCCATTTTGAGAATCAATTTTAGATATTAGTCATCTAACCGATTGGTTTTTATTGTTACCCTTAAGTTCAATTTCTACTTTAAGCCTTCTTTTCTTTCCCTAAAAATTAAATGCTACTTTCCAAACTTTTCTTTCATGTGCTACAATTAATTATTGCTGTGATTTTCTAATTAGTGCTACAAATTTCTAATTAATGCCGCAAATTTCTAATTAATTTTATAAATTTCTCCAATGAGTTAGAAAGTATCATAGCCAATACAAACGTATCCTACTTCAAATACACTGCATATTAATATTATAATAAATAAAAACTAATAAGCTAGGATGTAATTCAAAATAATTTACTGCAGAGGTGCTTTAAATAGTGAACTTTATGCTAAGAAATTCTGCAACTTACATTTAACTTTTCAGGACCACATTCATCCAAATAAAAATATCATCCAAATAAATAGGTGTATAGCAGTTTCTTAAAAATTAATAAGTGTCTACAAACATTTTGCTCAATTCAAATTTCAGTCTAAATGATAATATTTCTTATGATGTTGTCCACAGTGTGTCATAGCAGAGAGCCGACTTTATGAGGCTATATTAGGATGCTTTAAATTGACACAAGGAATGTCCCTCTGCTATATTTAAAGGTCCTGTCTAGGTCTAAAGTCTGATTCACATCAGCCCAAGGTATACCGATGGCACAGCTTACTCCTTCAACCATGAAACTAGCAAAATAATGTACCTGCAGAATTGCAATTGGAGCAATCTTTACTGATAATGAAGGGATTTCCAGTCTGGGAACAAGTATATGTCCACATACCAATCCAAGGACTAGCGGGATTTTAACTAGTGGATGATTTACAAGAGACTAGAAATGCCATGAGGTAGCGATAGTATATTAGCCTACAAACTGGATCCAGGCTTCCCATAGGCAAAATACTTTTCTTCTGGGACAGCCGTGGATCTCTGGGTTGATCCCAGTATTAATAAACAATTCCTTTAGCCCTCTTCCATGGAG
TTCATTTATTGTCTTCTGTATTGGTGGATGTGGGGACCTGGAGAGCAGGGCTCCATAGTGAAACCTTCAGGACAGCAAGATCCACAGCTCTTTCCTTTGATGTGAACCACGTCTGCACTAACCCCTCTGTTTAAACCCAAAATGAAGCTTAGGAATAATTCAGTATAACTGAGTCGAGCAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCATGTTTTTCACTCACGTAGGCCTGCAAGAATTAGCACACATGTTACATTTAAATAATACCTAGATGCTGCTACAAGTACATTATTTTTTGTCTTTCTTAATAGTCTGGTTATTAAACCAAAAATGAGTATTTCAGAACACTATATTTTTTTGAACATGTTACAATTTTGCTGTACCTAACTGTGAGCCAAGAACAGTCTCAAAAATTGTTTAGTGGAGTATACAAAGCTCACCAGCCACTTGCTACCCTCATAGCACAAATAGAGAAACAGTGTTGTGGCTCAGGTTTTAAGTAAAACCATGGTACCTATACATACTACAAAGTGTTCGTTTGTATATATTAGATCTACTTATAAGTGAATTTTCTGTAAGACTTTTAGTCTCCAGCTTAATGCGGTTAGGTACATAAAATTACTTTTCAAAATTTAATGTAACATTTTTATTTTAATGTAGTTTCTGAAATTACAGTTCTCTTAAACATTTTACATTTTTACCCAACTTTGTCAGATTCAATGGCAACCTAAAGTCAATTACAATACTTTTTTTTCTTAATAAAAAGATAAGGTCTGAAAAGAAATTACATCTGTAAACTCTCTTCTTTTCTTCATCATCATGTATTTACAGTTGGCTGTGAAAAGCCTTGGCTTTTTCAACACCACCCTCACTCAGCCCCAGCTTTGAGAGGACTTATTGCCATGCATACCCGCAGCACCACTCTTGGTAATTTAGAAATGTGAACTACAGCTCTAGAGTAAACAGGGTGCCTTTTGGTATTCAACGTTGTTCCTATTGAAAAGGAGCATCATTTTGCTCTCTCTTCTGGAAATAGCATTACTAATAAACGTGATTAGGGCATTCGTGTCATGGAACAAATCTTACTGAATATATAAATACCTTTGTTCAGCCATTAAAAAAAAAAGAATCATAGACACCAAAGTAAAAACACATCAACAGTAATTTCAAACAGCCCCAGTATAAAGTAAATGGATTATAACGAAGACATATTATATGTTAACTTTTGCCAGGAAAAAAGAAGCCTGTATAAAATTTTCACTTGTTAATTACATTTTCTAAAATTTGTTGAAAACTGAGACATTAATTCCAGAGGACAGACAGGCTCATGAAAAATACAAAACAGCATGCAGGTATAATGGCATCTATTGAAATGACAAGTTAGAGGCCACTAAAGAAGAGAAAAAAAAATGAATAAAGAAATTTACATGTTGTCAAAGTAGTTTCTTTATGACAGCATAATTATTTACATAAAAAAGTGTTCCAAACAATTAAGATGTTTCCACAGCAATTTCCAAAATGGGTTCCCTGCAGAGCTTTTATTGTTTATTTTAACCAATAAAAATACAAATTACTAAATTTAAACAGTAACAAACAAACCAGGAAACTAAGCAGGGCATTATGTTTAAGATTTTCATTATCAATTGAAGAGACTTCAGTGACATGTTTTGACAACCTGAAGTATGGTACAGGACACTAGACACTGAATAATAAATTGCTGTTTAAAAGATCTGCATAGAGATTTAAATTGGTTGCCATTCTAGGCATGTACCTCATTGGTGACTAAAACACAGCATCCAGAGTGAAGAGCTGCAAGCCAACCATATCTTTCTTCCAATCTATTCATATCCCTGTCAAAATTATTTAGGAACTTGTAGCGAAGAAGGTCGTCGTCAGTTAAATGAAACTGCCGCCTGGCATAATGGTAACTCTCATTATTTCCTTTTCTTGGGAAGTCTAACCATTCAGGATGCCCAAATTCATTACCTGCATTACAAAACACATGCAAATATCAGCCTATTAATATTAGAATTTCTTACTAATAATAAATCAATAATTATATGTTTTTAATGTTTTTTAAATTTAGTTTAGGCTATCATTTACTAGACCTGTGTCCTGTGAATGATGTACAGGTGTAGCTCAAAAATAGCACGGTCTAGCACAGGAAGTACCACCTTTGGACTCAGAAGCCCAGGGTCCAGCTTCAGTTTGGCTGCTCATTACTTGTTGCACATCTTGGTTTCCTCAAGCACAAACTGAAGACAATTATCAATGTCATACTTATTTCATTTCTGAAATAATCTCTGCGATCTCAGAGTAATTTCTGAAATATCTATTTCTATAATCTCTGAAATCTGTACAATTCTTGACAATTTCCAAAGGCTTTGTATGTAGGTTATTTTTTGATCCTCAAAGGAACTCTCTATTATATTCATTTCACAGATGAGAAATCCAAAGCTCTGGCCAGTTAAGAGACTTGCCCAACTTCACATAGTGGGAAAGCAACCATTAAAATTGAGTTCCTCTCATTAAAATCCAGTTTTTCCTACCACATCACATTAGGCAAATATCTTGTAAACTTCAGGTGCTAAGGAAACTCAGGTCATTACTTTTATTATGAATTTTCCGTATTTCTTTTTCAGATCTATTTTTTACTACTAGAGTGTGTACCTTTCATTTCAAGTGTGCCTGCATGCTTATGCTTATTCTTCTGTGTGTTTAGCTGAGACCCCTGGCTGGGGATCTATATAATATTATCTCTCACTATAATGATCAGAACCAGAAACCCAATAAACTTAAAAATAAAATAAAACAGTAACAAATACATAGTTTCCATTTTGAGAATCAATTTTAGATATTAGTCATCTAACCGATTGGTTTTTATTGTTACCCTTAAGTTCAATTTCTACTTTAAGCCTTCTTTTCTTTCCCTAAAAATTAAATGCTACTTTCCAAACTTTTCTTTCATGTGCTACAATTAATTATTGCTGTGATTTTCTAATTAGTGCTACAAATTTCTAATTAATGCCGCAAATTTCTAATTAATTTTATAAATTTCTCCAATGAGTTAGAAAGTATCATAGCCAATACAAACGTATCCTACTTCAAATACACTGCATATTAATATTATAATAAATAAAAACTAATAAGCTAGGATGTAATTCAAAATAATTTACTGCAGAGGTGCTTTAAATAGTGAACTTTATGCTAAGAAATTCTGCAACTTACATTTAACTTTTCAGGACCACATTCATCCAAATAAAAATATCATCCAAATAAATAGGTGTATAGCAGTTTCTTAAAAATTAATAAGTGTCTACAAACATTTTGCTCAATTCAAATTTCAGTCTAAATGATAATATTTCTTATGATGTTGTCCACAGTGTGTCATAGCAGAGAGCCGACTTTATGAGGCTATATTAGGATGCTTTAAATTGACACAAGGAATGTCCCTCTGCTATATTTAAAGGTCCTGTCTAGGTCTAAAGTCTGATTCACATCAGCCCAAGGTATACCGATGGCACAGCTTACTCCTTCAACCATGAAACTAGCAAAATAATGTACCTGCAGAATTGCAATTGGAGCAATCTTTACTGATAATGAAGGGATTTCCAGTCTGGGAACAAGTATATGTCCACATACCAATCCAAGGACTAGCGGGATTTTAACTAGTGGATGATTTACAAGAGACTAGAAATGCCATGAGGTAGCGATAGTATATTAGCCTACAAACTGGATCCAGGCTTCCCATAGGCAAAATACTTTTCTTCTGGGACAGCCGTGGATCTCTGGGTTGATCCCAGTATTAATAAACAATTCCTTTAGCCCTCTTCCATGGAGNNNNNNNNNNNNN
pathogenic
71,367
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 81537037, gene GBE1 (1,4-alpha-glucan branching enzyme 1): what disease(s) if pathogenic?
pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
CCCAAAATGAAGCTTAGGAATAATTCAGTATAACTGAGTCGAGCAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCATGTTTTTCACTCACGTAGGCCTGCAAGAATTAGCACACATGTTACATTTAAATAATACCTAGATGCTGCTACAAGTACATTATTTTTTGTCTTTCTTAATAGTCTGGTTATTAAACCAAAAATGAGTATTTCAGAACACTATATTTTTTTGAACATGTTACAATTTTGCTGTACCTAACTGTGAGCCAAGAACAGTCTCAAAAATTGTTTAGTGGAGTATACAAAGCTCACCAGCCACTTGCTACCCTCATAGCACAAATAGAGAAACAGTGTTGTGGCTCAGGTTTTAAGTAAAACCATGGTACCTATACATACTACAAAGTGTTCGTTTGTATATATTAGATCTACTTATAAGTGAATTTTCTGTAAGACTTTTAGTCTCCAGCTTAATGCGGTTAGGTACATAAAATTACTTTTCAAAATTTAATGTAACATTTTTATTTTAATGTAGTTTCTGAAATTACAGTTCTCTTAAACATTTTACATTTTTACCCAACTTTGTCAGATTCAATGGCAACCTAAAGTCAATTACAATACTTTTTTTTCTTAATAAAAAGATAAGGTCTGAAAAGAAATTACATCTGTAAACTCTCTTCTTTTCTTCATCATCATGTATTTACAGTTGGCTGTGAAAAGCCTTGGCTTTTTCAACACCACCCTCACTCAGCCCCAGCTTTGAGAGGACTTATTGCCATGCATACCCGCAGCACCACTCTTGGTAATTTAGAAATGTGAACTACAGCTCTAGAGTAAACAGGGTGCCTTTTGGTATTCAACGTTGTTCCTATTGAAAAGGAGCATCATTTTGCTCTCTCTTCTGGAAATAGCATTACTAATAAACGTGATTAGGGCATTCGTGTCATGGAACAAATCTTACTGAATATATAAATACCTTTGTTCAGCCATTAAAAAAAAAAGAATCATAGACACCAAAGTAAAAACACATCAACAGTAATTTCAAACAGCCCCAGTATAAAGTAAATGGATTATAACGAAGACATATTATATGTTAACTTTTGCCAGGAAAAAAGAAGCCTGTATAAAATTTTCACTTGTTAATTACATTTTCTAAAATTTGTTGAAAACTGAGACATTAATTCCAGAGGACAGACAGGCTCATGAAAAATACAAAACAGCATGCAGGTATAATGGCATCTATTGAAATGACAAGTTAGAGGCCACTAAAGAAGAGAAAAAAAAATGAATAAAGAAATTTACATGTTGTCAAAGTAGTTTCTTTATGACAGCATAATTATTTACATAAAAAAGTGTTCCAAACAATTAAGATGTTTCCACAGCAATTTCCAAAATGGGTTCCCTGCAGAGCTTTTATTGTTTATTTTAACCAATAAAAATACAAATTACTAAATTTAAACAGTAACAAACAAACCAGGAAACTAAGCAGGGCATTATGTTTAAGATTTTCATTATCAATTGAAGAGACTTCAGTGACATGTTTTGACAACCTGAAGTATGGTACAGGACACTAGACACTGAATAATAAATTGCTGTTTAAAAGATCTGCATAGAGATTTAAATTGGTTGCCATTCTAGGCATGTACCTCATTGGTGACTAAAACACAGCATCCAGAGTGAAGAGCTTACCTGTGGAGCTGCAAGCCAACCATATCTTTCTTCCAATCTATTCATATCCCTGTCAAAATTATTTAGGAACTTGTAGCGAAGAAGGTCGTCGTCAGTTAAATGAAACTGCCGCCTGGCATAATGGTAACTCTCATTATTTCCTTTTCTTGGGAAGTCTAACCATTCAGGATGCCCAAATTCATTACCTGCATTACAAAACACATGCAAATATCAGCCTATTAATATTAGAATTTCTTACTAATAATAAATCAATAATTATATGTTTTTAATGTTTTTTAAATTTAGTTTAGGCTATCATTTACTAGACCTGTGTCCTGTGAATGATGTACAGGTGTAGCTCAAAAATAGCACGGTCTAGCACAGGAAGTACCACCTTTGGACTCAGAAGCCCAGGGTCCAGCTTCAGTTTGGCTGCTCATTACTTGTTGCACATCTTGGTTTCCTCAAGCACAAACTGAAGACAATTATCAATGTCATACTTATTTCATTTCTGAAATAATCTCTGCGATCTCAGAGTAATTTCTGAAATATCTATTTCTATAATCTCTGAAATCTGTACAATTCTTGACAATTTCCAAAGGCTTTGTATGTAGGTTATTTTTTGATCCTCAAAGGAACTCTCTATTATATTCATTTCACAGATGAGAAATCCAAAGCTCTGGCCAGTTAAGAGACTTGCCCAACTTCACATAGTGGGAAAGCAACCATTAAAATTGAGTTCCTCTCATTAAAATCCAGTTTTTCCTACCACATCACATTAGGCAAATATCTTGTAAACTTCAGGTGCTAAGGAAACTCAGGTCATTACTTTTATTATGAATTTTCCGTATTTCTTTTTCAGATCTATTTTTTACTACTAGAGTGTGTACCTTTCATTTCAAGTGTGCCTGCATGCTTATGCTTATTCTTCTGTGTGTTTAGCTGAGACCCCTGGCTGGGGATCTATATAATATTATCTCTCACTATAATGATCAGAACCAGAAACCCAATAAACTTAAAAATAAAATAAAACAGTAACAAATACATAGTTTCCATTTTGAGAATCAATTTTAGATATTAGTCATCTAACCGATTGGTTTTTATTGTTACCCTTAAGTTCAATTTCTACTTTAAGCCTTCTTTTCTTTCCCTAAAAATTAAATGCTACTTTCCAAACTTTTCTTTCATGTGCTACAATTAATTATTGCTGTGATTTTCTAATTAGTGCTACAAATTTCTAATTAATGCCGCAAATTTCTAATTAATTTTATAAATTTCTCCAATGAGTTAGAAAGTATCATAGCCAATACAAACGTATCCTACTTCAAATACACTGCATATTAATATTATAATAAATAAAAACTAATAAGCTAGGATGTAATTCAAAATAATTTACTGCAGAGGTGCTTTAAATAGTGAACTTTATGCTAAGAAATTCTGCAACTTACATTTAACTTTTCAGGACCACATTCATCCAAATAAAAATATCATCCAAATAAATAGGTGTATAGCAGTTTCTTAAAAATTAATAAGTGTCTACAAACATTTTGCTCAATTCAAATTTCAGTCTAAATGATAATATTTCTTATGATGTTGTCCACAGTGTGTCATAGCAGAGAGCCGACTTTATGAGGCTATATTAGGATGCTTTAAATTGACACAAGGAATGTCCCTCTGCTATATTTAAAGGTCCTGTCTAGGTCTAAAGTCTGATTCACATCAGCCCAAGGTATACCGATGGCACAGCTTACTCCTTCAACCATGAAACTAGCAAAATAATGTACCTGCAGAATTGCAATTGGAGCAATCTTTACTGATAATGAAGGGATTTCCAGTCTGGGAACAAGTATATGTCCACATACCAATCCAAGGACTAGCGGGATTTTAACTAGTGGATGATTTACAAGAGACTAGAAATGCCATGAGGTAGCGATAGTATATTAGCCTACAAACTGGATCCAGGCTTCCCATAGGCAAAATACTTTTCTTCTGGGACAGCCGTGGATCTCTGGGTTGATCCCAGTATTAATAAACAATTCCTTTAGCCCTCTTCCATGGAGACTGTCACATCATTGTCATCACGATGACAGTAGAAGCAGCAGCACATGCTTAATTTCTGTTTATTATGTGCCAGGCACGATTGTAGGCATTGCACATGAATTAACCCTATCTTCCACAATTGTCTAAGGTAGGTA
CCCAAAATGAAGCTTAGGAATAATTCAGTATAACTGAGTCGAGCAAAGATTTATCCATCAACTATTTTAAGTTCCTCATTTTTCAGATGAGGAAAATGAATGTTTCTGTCATCAAGATCAACCTTAGTCTTTTTTTTTTTTTTGTCCTATAATGTAATAAAGAAGTGAATGTGGACAGTCATATTCACTGGTAACAAAAAGGATATTTCCCTGGCAATGCTGTTCCAACTCGGTAGTCAGTGTAGCTCTTGCTTGGATGGAAGTTGAAAATGAAAAGAAGACCTGCTCTTTCAAAAGCAATGATCTTATTGCCTTCATGTTTTTCACTCACGTAGGCCTGCAAGAATTAGCACACATGTTACATTTAAATAATACCTAGATGCTGCTACAAGTACATTATTTTTTGTCTTTCTTAATAGTCTGGTTATTAAACCAAAAATGAGTATTTCAGAACACTATATTTTTTTGAACATGTTACAATTTTGCTGTACCTAACTGTGAGCCAAGAACAGTCTCAAAAATTGTTTAGTGGAGTATACAAAGCTCACCAGCCACTTGCTACCCTCATAGCACAAATAGAGAAACAGTGTTGTGGCTCAGGTTTTAAGTAAAACCATGGTACCTATACATACTACAAAGTGTTCGTTTGTATATATTAGATCTACTTATAAGTGAATTTTCTGTAAGACTTTTAGTCTCCAGCTTAATGCGGTTAGGTACATAAAATTACTTTTCAAAATTTAATGTAACATTTTTATTTTAATGTAGTTTCTGAAATTACAGTTCTCTTAAACATTTTACATTTTTACCCAACTTTGTCAGATTCAATGGCAACCTAAAGTCAATTACAATACTTTTTTTTCTTAATAAAAAGATAAGGTCTGAAAAGAAATTACATCTGTAAACTCTCTTCTTTTCTTCATCATCATGTATTTACAGTTGGCTGTGAAAAGCCTTGGCTTTTTCAACACCACCCTCACTCAGCCCCAGCTTTGAGAGGACTTATTGCCATGCATACCCGCAGCACCACTCTTGGTAATTTAGAAATGTGAACTACAGCTCTAGAGTAAACAGGGTGCCTTTTGGTATTCAACGTTGTTCCTATTGAAAAGGAGCATCATTTTGCTCTCTCTTCTGGAAATAGCATTACTAATAAACGTGATTAGGGCATTCGTGTCATGGAACAAATCTTACTGAATATATAAATACCTTTGTTCAGCCATTAAAAAAAAAAGAATCATAGACACCAAAGTAAAAACACATCAACAGTAATTTCAAACAGCCCCAGTATAAAGTAAATGGATTATAACGAAGACATATTATATGTTAACTTTTGCCAGGAAAAAAGAAGCCTGTATAAAATTTTCACTTGTTAATTACATTTTCTAAAATTTGTTGAAAACTGAGACATTAATTCCAGAGGACAGACAGGCTCATGAAAAATACAAAACAGCATGCAGGTATAATGGCATCTATTGAAATGACAAGTTAGAGGCCACTAAAGAAGAGAAAAAAAAATGAATAAAGAAATTTACATGTTGTCAAAGTAGTTTCTTTATGACAGCATAATTATTTACATAAAAAAGTGTTCCAAACAATTAAGATGTTTCCACAGCAATTTCCAAAATGGGTTCCCTGCAGAGCTTTTATTGTTTATTTTAACCAATAAAAATACAAATTACTAAATTTAAACAGTAACAAACAAACCAGGAAACTAAGCAGGGCATTATGTTTAAGATTTTCATTATCAATTGAAGAGACTTCAGTGACATGTTTTGACAACCTGAAGTATGGTACAGGACACTAGACACTGAATAATAAATTGCTGTTTAAAAGATCTGCATAGAGATTTAAATTGGTTGCCATTCTAGGCATGTACCTCATTGGTGACTAAAACACAGCATCCAGAGTGAAGAGCTTACCTGTGGAGCTGCAAGCCAACCATATCTTTCTTCCAATCTATTCATATCCCTGTCAAAATTATTTAGGAACTTGTAGCGAAGAAGGTCGTCGTCAGTTAAATGAAACTGCCGCCTGGCATAATGGTAACTCTCTCATTATTTCCTTTTCTTGGGAAGTCTAACCATTCAGGATGCCCAAATTCATTACCTGCATTACAAAACACATGCAAATATCAGCCTATTAATATTAGAATTTCTTACTAATAATAAATCAATAATTATATGTTTTTAATGTTTTTTAAATTTAGTTTAGGCTATCATTTACTAGACCTGTGTCCTGTGAATGATGTACAGGTGTAGCTCAAAAATAGCACGGTCTAGCACAGGAAGTACCACCTTTGGACTCAGAAGCCCAGGGTCCAGCTTCAGTTTGGCTGCTCATTACTTGTTGCACATCTTGGTTTCCTCAAGCACAAACTGAAGACAATTATCAATGTCATACTTATTTCATTTCTGAAATAATCTCTGCGATCTCAGAGTAATTTCTGAAATATCTATTTCTATAATCTCTGAAATCTGTACAATTCTTGACAATTTCCAAAGGCTTTGTATGTAGGTTATTTTTTGATCCTCAAAGGAACTCTCTATTATATTCATTTCACAGATGAGAAATCCAAAGCTCTGGCCAGTTAAGAGACTTGCCCAACTTCACATAGTGGGAAAGCAACCATTAAAATTGAGTTCCTCTCATTAAAATCCAGTTTTTCCTACCACATCACATTAGGCAAATATCTTGTAAACTTCAGGTGCTAAGGAAACTCAGGTCATTACTTTTATTATGAATTTTCCGTATTTCTTTTTCAGATCTATTTTTTACTACTAGAGTGTGTACCTTTCATTTCAAGTGTGCCTGCATGCTTATGCTTATTCTTCTGTGTGTTTAGCTGAGACCCCTGGCTGGGGATCTATATAATATTATCTCTCACTATAATGATCAGAACCAGAAACCCAATAAACTTAAAAATAAAATAAAACAGTAACAAATACATAGTTTCCATTTTGAGAATCAATTTTAGATATTAGTCATCTAACCGATTGGTTTTTATTGTTACCCTTAAGTTCAATTTCTACTTTAAGCCTTCTTTTCTTTCCCTAAAAATTAAATGCTACTTTCCAAACTTTTCTTTCATGTGCTACAATTAATTATTGCTGTGATTTTCTAATTAGTGCTACAAATTTCTAATTAATGCCGCAAATTTCTAATTAATTTTATAAATTTCTCCAATGAGTTAGAAAGTATCATAGCCAATACAAACGTATCCTACTTCAAATACACTGCATATTAATATTATAATAAATAAAAACTAATAAGCTAGGATGTAATTCAAAATAATTTACTGCAGAGGTGCTTTAAATAGTGAACTTTATGCTAAGAAATTCTGCAACTTACATTTAACTTTTCAGGACCACATTCATCCAAATAAAAATATCATCCAAATAAATAGGTGTATAGCAGTTTCTTAAAAATTAATAAGTGTCTACAAACATTTTGCTCAATTCAAATTTCAGTCTAAATGATAATATTTCTTATGATGTTGTCCACAGTGTGTCATAGCAGAGAGCCGACTTTATGAGGCTATATTAGGATGCTTTAAATTGACACAAGGAATGTCCCTCTGCTATATTTAAAGGTCCTGTCTAGGTCTAAAGTCTGATTCACATCAGCCCAAGGTATACCGATGGCACAGCTTACTCCTTCAACCATGAAACTAGCAAAATAATGTACCTGCAGAATTGCAATTGGAGCAATCTTTACTGATAATGAAGGGATTTCCAGTCTGGGAACAAGTATATGTCCACATACCAATCCAAGGACTAGCGGGATTTTAACTAGTGGATGATTTACAAGAGACTAGAAATGCCATGAGGTAGCGATAGTATATTAGCCTACAAACTGGATCCAGGCTTCCCATAGGCAAAATACTTTTCTTCTGGGACAGCCGTGGATCTCTGGGTTGATCCCAGTATTAATAAACAATTCCTTTAGCCCTCTTCCATGGAGACTGTCACATCATTGTCATCACGATGACAGTAGAAGCAGCAGCACATGCTTAATTTCTGTTTATTATGTGCCAGGCACGATTGTAGGCATTGCACATGAATTAACCCTATCTTCCACAATTGTCTAAGGTAGG
pathogenic
71,372
For chromosome 3, position 81578074, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
AAAAGCCTTAATCATTCTTTGTTCACATTCAATAATGTTTTAAGGTGTACGTCAACCTAGAATTATTTTTCAGTCAGTAATAGCACAAAGTGAGGTATTTTCTCTCTGAGTATTCATGGCAGCTTAAAAAATTGAAATTTAACCTAATAAACATTTTATTACATTGTATGATGAAGGTAATGCATTAGGCAATGTATCATACTTACTTATTATACATGATAACTATAATAATCATAGTTATCAAATAGAAAAATATTTTATCCTAAATTTAGGATATGACCATCCTGTTTTAGATTGTAAATTCTCTGAAAGCAGTTATCATCTTCTATTTTATGTAATTATGTATCTACAGATACATAAGGATTTCCTTCTGTAGATGATAGTAATTTTATACTTTTGTACATGAAATAAAGCATTTAAAATATCTCACTAGGTCCTCAGTTTCCTTACTTTACATGGTGACATGGTTATTTGCATAGGTTCATACAGTTTACTTATTCATCAGGATATAGTTACATAAATTGGCTGTATAACTAAGGCCTTACGGAGTGCCCATATTGGAGAATGATGCATCCTGAGTCAGGTAGAACCATTGCTTTTAAGGAACTAAGGCTGACTTTATTTATGGAACCAATCATTGCAAAGTCCATCCAGGGAACTTGACCTGATACCTGGCTGATGCGATACAGTCTCACAACTCAGGAAGGTCACTTCCTGGAAGGCTAGGGATGTCAACAAATTTCAGTGACCCTGAGAATAGAGGATACACCCAAAGGTACAGGTAGTATACGTGAAATCTGTGTATGCTTTCTCGGGGTTGGCTTCCTAACCTCCAGTTAGTAAAAAATAAAGGCTTTTAAAAGTTCAATCTGAGATTTCTTACAAAAATTTCCAAGTAGAAGTGAATAATTCAAAGATCCAGGGCTTTTTAAAAATTAGAGATAGGGTCTTGCTTTGTCACCCTAGCTGGAGTGCATGATTATAGTTTACTACAACCTCAGACTCCTGGGCTCAAACAGTCCCTCTGCCTCAGCCTCCTGATTAGCTAGGGTACAGGCACGCACCACCACACCCAGCATTTTTTTTTTCTTCTTTTGGTAGAGATGGGGCTTTTCCATATTGTCCAGGTTGGTCTCTAACTCTTCGCCTCAAGCCATCCTCCTCCCTCAGCCTCCCAAAGGAATCAGATTAAAGGTGTGAGGCACCACCCACCCTGAGTCTTTTATTGTAGAAAAATAAAACAGCCTTTTGTATATATTCCCCAGTCTTTGTGTCTTTCTCTAGTCTAAAAGCTGTAAAAATTTCCTAAAACTCGAATGTTTCAATGTCTGCTGTTCACCAACTAGAAGTCAATTTTTATATTTTATTTCAAGAGCTTTCAGACAAAAATGACCTTTCAGTATTCATATTTTTCTATTTTAAAAAATAAATTTCTTTTTGTCCAACACAATATCTCTGAACCTAAGTTCACACATTTATAACACAAGTATACTGGTATAAAATTATCTCAAAGAAGACCAATAATACTAGCTTGCTATGTTATAATATGATAATTATATCTTTCTTAGATTTAATGTGCAAATACTATAACAATAAAATTAACTCAGAATGATTAAATTCAGAACCATAATTCCGGATGTTAAAAACAGGTAAGCCCGCTTGACAGCAATATTCAATTAAATATCAGCTTTTAGACTATACTTTTGTATCATATATTAATATAATAACCTTACAGTGATTTAATTTTATTCTTGCAATTTACACGACAGTATATGAAATAAATAGTTGTAATTTTATATTCTAAATCTGAAAAGCCAAATCAAAATATTCTACATGATTTATGTCATTATAAGTTAACATTTTAAACACAAATTGCATATGTGTTTAACTCACACTTACCCATGAAATTGAGATAGCCTTCTCCACCAAGCCCATGCGTAATGAGTCGAATCATTTTATGAAGCTGTATTCCACGATCAATAACTGGAGTAAAAGGAGTCAGGACACTCATGTTTGTATACATTTCGGCATCCATCAACCAAAATGCCAGCGACTTATCCCCAACCAATGCCTACAGAAATAAAAGTAATGGAGATAAATGAAAAAAAAAAGTGCTAAGTAGTTGTGATTTACAATAGAACAATGCATGGTTACAAATGTTAGGAAACATCGTAGAAGAGGTGTGTAGATTAATATTAATTTCAGGTATTTTCCACTGGTGATTTTCTAGGCTCAAGGCAAGCTGGTAAAATATGTTAGACTTCAACACATTTGTTTTCAGGACTGGACTGATTTTTATTTTTAAAATAGGTTGGTGAAAGATTCATGATAAGGTACCTGAATATCTGTTATATGTGAGCTGACACCTCACATTTTCTGAAACATTTATTATAATGTTGAGAATATTAAATAGATTTTTAAAATAGATTGTATATAATGATTTTATTTGCTTTGAAAGAAGTTTCTGAAAAATCATTGATATATAATATATATATATTATTTTGCTCATATATATGAGTAATATAATATGTGTATAAATATATCACAATAGTTCCTTCCTGCCCTCAGCAGAGAAAATAAGTTGAGAACATTTATTTAAGTGTAAATTTGCTTTCTCATTGTATTTGCCATTTAATCTAAATTTAGTTTGTTTTACCTGAAAATATAATAATTATTAACTGAGGCAGGTAACTCAGAAATGCCCTGAGTAACAGCAGAGAGACCTCCTAAAAATCTGAATTATTTACAGTTCAAAACAGCTAATGCAGTGTTCATCATGGACAAAACAATAACATAGAGTAAAATGTAAAATAGAAATTAATCCATAATCTCAGTACCCTATTACAATTCTTTTCATTTTCTAGAAAAGAAATTTGTTTACAATCTTTTCTATCTTTAACCTACTTTAATTAAAATGATCTTTCTTTAAAAATTGTTATAGGATTTATATCATTACTTCTTAAACAACTCACCTTCTCTACTTGTTTTGAATTCTTTAATTATGTTTTTAGCTATAATTATTTATTTCTACAATCTCTGATTCTATTATAAAATTATTTTAATAACTTTGGATCAGGTTCATAGATAAAGCTTATTCTCATACCAAGTTGCCCTCTTATAAAATCCTGTTGAGATACTGGTGAAATTAAGTTAAGTTTACAAATTTAATTGTTAAGGATTTATCTAAAAAGTTTAAAATAACATCCACATTTTTACTATAAATTATATGTTTATTTATTCATTTTTATGTATTCATATACATTTATATTTTTTATCAGGCTTAAGAATCAAAGTACATTTGCTTTTAGAAAGAACTAGGCAACTTGCATTATTTCTGCTATCCTGAGAATTCCTGAATATATAAGATAGGATTGCCTGAATTTTTAAAGTATGAAATAATTCTTGGTAAATCTTTTTCTTTACAGATTAGGTAGAAATTTACGTAAGAAATCTATCTTTTTCATCTTCCATTTGTTCATGCCACTTATTTGTTTACTCTTTCATTCATATAAAATAAACATATGCTGGGAATTCACTATGTGCTGCAACTTCAAGGAGTTTGCAATAGAAAGCTATAATTTATGCATATATTTTAATTTCCAAATTGTTATGTATTTGGTAAGAGTTTCCCCCTCCCCACCCCCACCACTCACCTATTAAACAAATATTATTCTTTTCTAGATTGGGTTCTTCTTTTTTAGATAAGTATTTATCTTATCTGCTCTACAGACAAGGATAATGTAAATTGAAGTTGATAAGAAAGCACAGCCCCAATTTGGAAGATGCAAAATTTAACATGAGTTTACTTCAGAGGTCATCAAGTTTCTCTAAGGGTGGGCCACTTTCTCTGTCTCAGCTACTCAAATGCATCATTTTGGCACAAAGGAGAATACGTAAACAAATCAGCATGGCTGTGTTCCAAGTAACCTTATTTACAAAAACAGGCAGCAGGTAGGATTTGGCCCATGGGCCTTGATTACCCAACCCCTGCTTTACTTACATTTTCTTAACAATTAGAGGAGACACCTGAAAAAATCATGTTTGCGTTAAATGGCCAATTTCTGCAAAAATGATAGAGAAACTTATTTAGTTTCAA
AAAAGCCTTAATCATTCTTTGTTCACATTCAATAATGTTTTAAGGTGTACGTCAACCTAGAATTATTTTTCAGTCAGTAATAGCACAAAGTGAGGTATTTTCTCTCTGAGTATTCATGGCAGCTTAAAAAATTGAAATTTAACCTAATAAACATTTTATTACATTGTATGATGAAGGTAATGCATTAGGCAATGTATCATACTTACTTATTATACATGATAACTATAATAATCATAGTTATCAAATAGAAAAATATTTTATCCTAAATTTAGGATATGACCATCCTGTTTTAGATTGTAAATTCTCTGAAAGCAGTTATCATCTTCTATTTTATGTAATTATGTATCTACAGATACATAAGGATTTCCTTCTGTAGATGATAGTAATTTTATACTTTTGTACATGAAATAAAGCATTTAAAATATCTCACTAGGTCCTCAGTTTCCTTACTTTACATGGTGACATGGTTATTTGCATAGGTTCATACAGTTTACTTATTCATCAGGATATAGTTACATAAATTGGCTGTATAACTAAGGCCTTACGGAGTGCCCATATTGGAGAATGATGCATCCTGAGTCAGGTAGAACCATTGCTTTTAAGGAACTAAGGCTGACTTTATTTATGGAACCAATCATTGCAAAGTCCATCCAGGGAACTTGACCTGATACCTGGCTGATGCGATACAGTCTCACAACTCAGGAAGGTCACTTCCTGGAAGGCTAGGGATGTCAACAAATTTCAGTGACCCTGAGAATAGAGGATACACCCAAAGGTACAGGTAGTATACGTGAAATCTGTGTATGCTTTCTCGGGGTTGGCTTCCTAACCTCCAGTTAGTAAAAAATAAAGGCTTTTAAAAGTTCAATCTGAGATTTCTTACAAAAATTTCCAAGTAGAAGTGAATAATTCAAAGATCCAGGGCTTTTTAAAAATTAGAGATAGGGTCTTGCTTTGTCACCCTAGCTGGAGTGCATGATTATAGTTTACTACAACCTCAGACTCCTGGGCTCAAACAGTCCCTCTGCCTCAGCCTCCTGATTAGCTAGGGTACAGGCACGCACCACCACACCCAGCATTTTTTTTTTCTTCTTTTGGTAGAGATGGGGCTTTTCCATATTGTCCAGGTTGGTCTCTAACTCTTCGCCTCAAGCCATCCTCCTCCCTCAGCCTCCCAAAGGAATCAGATTAAAGGTGTGAGGCACCACCCACCCTGAGTCTTTTATTGTAGAAAAATAAAACAGCCTTTTGTATATATTCCCCAGTCTTTGTGTCTTTCTCTAGTCTAAAAGCTGTAAAAATTTCCTAAAACTCGAATGTTTCAATGTCTGCTGTTCACCAACTAGAAGTCAATTTTTATATTTTATTTCAAGAGCTTTCAGACAAAAATGACCTTTCAGTATTCATATTTTTCTATTTTAAAAAATAAATTTCTTTTTGTCCAACACAATATCTCTGAACCTAAGTTCACACATTTATAACACAAGTATACTGGTATAAAATTATCTCAAAGAAGACCAATAATACTAGCTTGCTATGTTATAATATGATAATTATATCTTTCTTAGATTTAATGTGCAAATACTATAACAATAAAATTAACTCAGAATGATTAAATTCAGAACCATAATTCCGGATGTTAAAAACAGGTAAGCCCGCTTGACAGCAATATTCAATTAAATATCAGCTTTTAGACTATACTTTTGTATCATATATTAATATAATAACCTTACAGTGATTTAATTTTATTCTTGCAATTTACACGACAGTATATGAAATAAATAGTTGTAATTTTATATTCTAAATCTGAAAAGCCAAATCAAAATATTCTACATGATTTATGTCATTATAAGTTAACATTTTAAACACAAATTGCATATGTGTTTAACTCACACTTACCCATGAAATTGAGATAGCCTTCTCCACCAAGCCCATGCGTAATGAGTCGAATCATTTTATGAAGCTGTATTCCACGATCAATAACTGGAGTAAAAGGAGTCAGGACACTCATGTTTGTATACATTTCGGCATCCATCAACCAAAATGCCACGACTTATCCCCAACCAATGCCTACAGAAATAAAAGTAATGGAGATAAATGAAAAAAAAAAGTGCTAAGTAGTTGTGATTTACAATAGAACAATGCATGGTTACAAATGTTAGGAAACATCGTAGAAGAGGTGTGTAGATTAATATTAATTTCAGGTATTTTCCACTGGTGATTTTCTAGGCTCAAGGCAAGCTGGTAAAATATGTTAGACTTCAACACATTTGTTTTCAGGACTGGACTGATTTTTATTTTTAAAATAGGTTGGTGAAAGATTCATGATAAGGTACCTGAATATCTGTTATATGTGAGCTGACACCTCACATTTTCTGAAACATTTATTATAATGTTGAGAATATTAAATAGATTTTTAAAATAGATTGTATATAATGATTTTATTTGCTTTGAAAGAAGTTTCTGAAAAATCATTGATATATAATATATATATATTATTTTGCTCATATATATGAGTAATATAATATGTGTATAAATATATCACAATAGTTCCTTCCTGCCCTCAGCAGAGAAAATAAGTTGAGAACATTTATTTAAGTGTAAATTTGCTTTCTCATTGTATTTGCCATTTAATCTAAATTTAGTTTGTTTTACCTGAAAATATAATAATTATTAACTGAGGCAGGTAACTCAGAAATGCCCTGAGTAACAGCAGAGAGACCTCCTAAAAATCTGAATTATTTACAGTTCAAAACAGCTAATGCAGTGTTCATCATGGACAAAACAATAACATAGAGTAAAATGTAAAATAGAAATTAATCCATAATCTCAGTACCCTATTACAATTCTTTTCATTTTCTAGAAAAGAAATTTGTTTACAATCTTTTCTATCTTTAACCTACTTTAATTAAAATGATCTTTCTTTAAAAATTGTTATAGGATTTATATCATTACTTCTTAAACAACTCACCTTCTCTACTTGTTTTGAATTCTTTAATTATGTTTTTAGCTATAATTATTTATTTCTACAATCTCTGATTCTATTATAAAATTATTTTAATAACTTTGGATCAGGTTCATAGATAAAGCTTATTCTCATACCAAGTTGCCCTCTTATAAAATCCTGTTGAGATACTGGTGAAATTAAGTTAAGTTTACAAATTTAATTGTTAAGGATTTATCTAAAAAGTTTAAAATAACATCCACATTTTTACTATAAATTATATGTTTATTTATTCATTTTTATGTATTCATATACATTTATATTTTTTATCAGGCTTAAGAATCAAAGTACATTTGCTTTTAGAAAGAACTAGGCAACTTGCATTATTTCTGCTATCCTGAGAATTCCTGAATATATAAGATAGGATTGCCTGAATTTTTAAAGTATGAAATAATTCTTGGTAAATCTTTTTCTTTACAGATTAGGTAGAAATTTACGTAAGAAATCTATCTTTTTCATCTTCCATTTGTTCATGCCACTTATTTGTTTACTCTTTCATTCATATAAAATAAACATATGCTGGGAATTCACTATGTGCTGCAACTTCAAGGAGTTTGCAATAGAAAGCTATAATTTATGCATATATTTTAATTTCCAAATTGTTATGTATTTGGTAAGAGTTTCCCCCTCCCCACCCCCACCACTCACCTATTAAACAAATATTATTCTTTTCTAGATTGGGTTCTTCTTTTTTAGATAAGTATTTATCTTATCTGCTCTACAGACAAGGATAATGTAAATTGAAGTTGATAAGAAAGCACAGCCCCAATTTGGAAGATGCAAAATTTAACATGAGTTTACTTCAGAGGTCATCAAGTTTCTCTAAGGGTGGGCCACTTTCTCTGTCTCAGCTACTCAAATGCATCATTTTGGCACAAAGGAGAATACGTAAACAAATCAGCATGGCTGTGTTCCAAGTAACCTTATTTACAAAAACAGGCAGCAGGTAGGATTTGGCCCATGGGCCTTGATTACCCAACCCCTGCTTTACTTACATTTTCTTAACAATTAGAGGAGACACCTGAAAAAATCATGTTTGCGTTAAATGGCCAATTTCTGCAAAAATGATAGAGAAACTTATTTAGTTTCAAN
pathogenic
71,385
Benign or pathogenic: chromosome 3, position 81581207, gene GBE1 (1,4-alpha-glucan branching enzyme 1) variant? Disease(s) if pathogenic?
pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
ATACTGGTGAAATTAAGTTAAGTTTACAAATTTAATTGTTAAGGATTTATCTAAAAAGTTTAAAATAACATCCACATTTTTACTATAAATTATATGTTTATTTATTCATTTTTATGTATTCATATACATTTATATTTTTTATCAGGCTTAAGAATCAAAGTACATTTGCTTTTAGAAAGAACTAGGCAACTTGCATTATTTCTGCTATCCTGAGAATTCCTGAATATATAAGATAGGATTGCCTGAATTTTTAAAGTATGAAATAATTCTTGGTAAATCTTTTTCTTTACAGATTAGGTAGAAATTTACGTAAGAAATCTATCTTTTTCATCTTCCATTTGTTCATGCCACTTATTTGTTTACTCTTTCATTCATATAAAATAAACATATGCTGGGAATTCACTATGTGCTGCAACTTCAAGGAGTTTGCAATAGAAAGCTATAATTTATGCATATATTTTAATTTCCAAATTGTTATGTATTTGGTAAGAGTTTCCCCCTCCCCACCCCCACCACTCACCTATTAAACAAATATTATTCTTTTCTAGATTGGGTTCTTCTTTTTTAGATAAGTATTTATCTTATCTGCTCTACAGACAAGGATAATGTAAATTGAAGTTGATAAGAAAGCACAGCCCCAATTTGGAAGATGCAAAATTTAACATGAGTTTACTTCAGAGGTCATCAAGTTTCTCTAAGGGTGGGCCACTTTCTCTGTCTCAGCTACTCAAATGCATCATTTTGGCACAAAGGAGAATACGTAAACAAATCAGCATGGCTGTGTTCCAAGTAACCTTATTTACAAAAACAGGCAGCAGGTAGGATTTGGCCCATGGGCCTTGATTACCCAACCCCTGCTTTACTTACATTTTCTTAACAATTAGAGGAGACACCTGAAAAAATCATGTTTGCGTTAAATGGCCAATTTCTGCAAAAATGATAGAGAAACTTATTTAGTTTCAATTTTTTAATAAAGATACTTTAAGTAACTTCAAACATTTTATTGTCTACATTTTAATCTACAAAAAGTAAATTTTATGTTGATGTGTATGAGGATTAATATGACCTTAAATAAGTGACCTTTTTTCTCCATTTTAAAAATATTTATTAAGTGATTACTAGGATCAGTCACAGTGCTAAAGGCTGGAAATAGAAAGACAATGAAAAAAAAATTCTGTTCCTAAAACATAATGGAAACTTGGAGGATGGGACAACTAATTTTTCCCTACATGACCCAAGGAAGGCTTTATATAGAATGTGTCAGAGCCAGACAATTAGGTCTGAGTAGGAACTTCCCAGATGCAGATGCGTGGGGAAAAGCACAAGATTGGAAAAAGCTGACCTATTTGGAATGGGTAGGGATTTCAAAGTATTGAAGAACAGGAGGCTTGGAGAGTTGGGCAGAGAATAATGCTGGAAACCGGCTTGAGCCAAAATAGGAGTGGCTTTGAATTACAGGCTTCGACCAGTATATCTGGGTTGACAAGACGAGCTTTCCTCTTTAGAAAATAACTTAGGCTGTATTCGAGAAGACAGACTAAGGCTGGATGGAACAGGGGTCAGGGAGGTCAATTAGCAGGAGATTTCAGTGACTGAGGGGAAAAACTGAAGAATGCTTGTCAAAAGCATAAAAGAATACCTCTAGAAGGCAGCCTAAGACGGAAACTAAAATAAACCTGGTCCAGCACCAATTTTCTTCATTATGACAAGGGAAAACATATAATACTTGCAACTGCAATGTATAATCTATTAATTATAGTTTGGCAGGACAAACATACTACTGCATTTTGAAACTGGAGTTTCTCCATCTACAAATTTAACATTTTTTCCAATATACGTAGTTTTCCTGTAAAGATATATATTAATACACACACACACATACACACATTATAGTAACTACAGAGGTTTATATTTCGATATGTTTATATTTAAATATGTTATTAAGGAGAGGGAAGGAGGAAGAGAGAGAGAGAGAAATAAATGAATTTATGCACATATTCATTTACCTGATCATGGCTCTCTGCATAAGCAATGCACTTTTCAAGGTAGCGCCTGTTTGTGAGCGTGTATACTATATCGCCCATGTTCCAGTCTTCATCTTTAAACTCTTTAAGTAGCTAGACACAAGAGAGAAAAATAAGCTTCTGAGTAAAGCATTATTTTTCTTATTTTTAAATCACAATCTGAAGTTATGCATTATATCAGTGCAAACTATTTGATAAGCACATATTAGTCCACCCATATAGCAAAGTTATCACTGTTTAAACTTTTACTGAAATCACAGCTTTTATACAGAATGTCCAAATGACAGTGGTGTAGAGTGTGTTTGTGTGTGTGTGTGTGGTGTTTGCTTTTGTGCAGACAGTTTAATCATTATATTTTAGGATCTTTGCAACTATTTTTCTGTAATAACTGCCACCTCTTGATTAATGCCCACAGTAATGTTATTGCACGGCATGTCTTCCTATAACTTGTACATGGTAGAGATACACTTGTTATATTTATTTGTTTATATGAAAAAAATTAGTAAAAAGAGTGTTTCGCTTCATTTTTACAAAGTGATAAAACAACTGTTTCAAAATTTAAAGTTAATTATCATCAAATAATTACCCTCTTAACAGACCACACATTTTGTGTCTGCATTTCAATTTCTAGTCGGTGTTCAGTCTGGCTCTGTCCCTCTAACACTATACTTTTATGCAACTGAACTTGCTGAGGTTAAGCTTGTGGTGTGAGCTTAAGTTAGTAATTGCTCTCCCTTAAGTAGATACTTGCTATACATATTGACACTGCTGATCCTATCTCCTGCCCCTGAACTTTTCCCTTTATTAATCTACCACTGTGAAACTCTTGCTTTATATTGTTTTGTTTCTTCCCGCCACTCCCGACATACTATAAATTCTCTTCCTCTGTTTGTCCTATAAAGGCTGGTGTTCCTCAGGATTATGTCCTAAATTTACTCTCCCTCTTTAATTCAACACACTGTCATACAATTATGAGAACATAAGCAGTTCTGATCATTGCAGTGCGAATCTTTGGGCACCAGAGGGCAGAACGTGGAAGGCAGAAGAGCAACCATCCATAGATGTTCACAACCTAATCCACGAGCATCTTTCTAAAAAGCAGGCATGAGTGTCAAAATAAGAGAAAGATTTGAAGATGCTATACTGCTGCTTTGAGGATAGAGGAAGGAGCAATGAGCCAAGGAATATAGGCAGCTTTTAGAAGTGAGAAAAGGCAAGGAAATGGCTTCTCCCTTACAGCCTCCAGAAGAAATGCAGCCCTGTTTACACTTTGATTTTAGTCCCAGTAAAACCCATTTCATTTTTGTAACACATAGAACTGTTGTGAATTTGTGCTGTTTAAGCCACTAAGCTTGTGGTAAATTGGATATGGGAATAATAGGAAACTAATGTATAGACCTACACAAATGGGCCAGACTAATTTTTGATAAAAGGGCAACAGAAATTCAATGGAAGGTGGGCGGATGTTTCAACAAATGATGCTTAAAGAATTGGATACCCATGGGTAAAAAGAGAACGATAAAGAACCTTGAGCTAAGTCTTATATATTGCACAGAACTTAACTCAAAATGGATCATGGGCTTAAATATAAAAAATAAAAACTATAAAACATTTAGTAAAAACCATAAGAGAGTCAAAAATTTCTTAAACTTGATACCAAAAGAGAGACCTATACAAGGGAAAAAATGATAAACTAGCTTCATCAAAATTTTTAAAAAATTGCTCTGTGAAAAGCCAATGTGAAGAGGATGAAAGAACAAGCATCAGACTAGGAGAAAAAAATTGTCAACCATGTATCCGGCAAAGAAGTTGAATCTAAAATATATAAAGAACCCTCAAAACTCCACAGTAAATAAACAATGCAATCAAGAAATGGTTAAAAGATATGAACAGATACCTCACCAAAGAGGATATGCAGGAGGCAAATAAGCACATGTTTGGTATCCAGCATCATAAACCATTTGAAAAATAATAAAACCACAATGAGATGTCACTACACACTGATTATAATAGCTAAAATAAAACATAGTGACAACACCAAATGCTGGTGAGGATGTATAGAGGCAGGTCTC
ATACTGGTGAAATTAAGTTAAGTTTACAAATTTAATTGTTAAGGATTTATCTAAAAAGTTTAAAATAACATCCACATTTTTACTATAAATTATATGTTTATTTATTCATTTTTATGTATTCATATACATTTATATTTTTTATCAGGCTTAAGAATCAAAGTACATTTGCTTTTAGAAAGAACTAGGCAACTTGCATTATTTCTGCTATCCTGAGAATTCCTGAATATATAAGATAGGATTGCCTGAATTTTTAAAGTATGAAATAATTCTTGGTAAATCTTTTTCTTTACAGATTAGGTAGAAATTTACGTAAGAAATCTATCTTTTTCATCTTCCATTTGTTCATGCCACTTATTTGTTTACTCTTTCATTCATATAAAATAAACATATGCTGGGAATTCACTATGTGCTGCAACTTCAAGGAGTTTGCAATAGAAAGCTATAATTTATGCATATATTTTAATTTCCAAATTGTTATGTATTTGGTAAGAGTTTCCCCCTCCCCACCCCCACCACTCACCTATTAAACAAATATTATTCTTTTCTAGATTGGGTTCTTCTTTTTTAGATAAGTATTTATCTTATCTGCTCTACAGACAAGGATAATGTAAATTGAAGTTGATAAGAAAGCACAGCCCCAATTTGGAAGATGCAAAATTTAACATGAGTTTACTTCAGAGGTCATCAAGTTTCTCTAAGGGTGGGCCACTTTCTCTGTCTCAGCTACTCAAATGCATCATTTTGGCACAAAGGAGAATACGTAAACAAATCAGCATGGCTGTGTTCCAAGTAACCTTATTTACAAAAACAGGCAGCAGGTAGGATTTGGCCCATGGGCCTTGATTACCCAACCCCTGCTTTACTTACATTTTCTTAACAATTAGAGGAGACACCTGAAAAAATCATGTTTGCGTTAAATGGCCAATTTCTGCAAAAATGATAGAGAAACTTATTTAGTTTCAATTTTTTAATAAAGATACTTTAAGTAACTTCAAACATTTTATTGTCTACATTTTAATCTACAAAAAGTAAATTTTATGTTGATGTGTATGAGGATTAATATGACCTTAAATAAGTGACCTTTTTTCTCCATTTTAAAAATATTTATTAAGTGATTACTAGGATCAGTCACAGTGCTAAAGGCTGGAAATAGAAAGACAATGAAAAAAAAATTCTGTTCCTAAAACATAATGGAAACTTGGAGGATGGGACAACTAATTTTTCCCTACATGACCCAAGGAAGGCTTTATATAGAATGTGTCAGAGCCAGACAATTAGGTCTGAGTAGGAACTTCCCAGATGCAGATGCGTGGGGAAAAGCACAAGATTGGAAAAAGCTGACCTATTTGGAATGGGTAGGGATTTCAAAGTATTGAAGAACAGGAGGCTTGGAGAGTTGGGCAGAGAATAATGCTGGAAACCGGCTTGAGCCAAAATAGGAGTGGCTTTGAATTACAGGCTTCGACCAGTATATCTGGGTTGACAAGACGAGCTTTCCTCTTTAGAAAATAACTTAGGCTGTATTCGAGAAGACAGACTAAGGCTGGATGGAACAGGGGTCAGGGAGGTCAATTAGCAGGAGATTTCAGTGACTGAGGGGAAAAACTGAAGAATGCTTGTCAAAAGCATAAAAGAATACCTCTAGAAGGCAGCCTAAGACGGAAACTAAAATAAACCTGGTCCAGCACCAATTTTCTTCATTATGACAAGGGAAAACATATAATACTTGCAACTGCAATGTATAATCTATTAATTATAGTTTGGCAGGACAAACATACTACTGCATTTTGAAACTGGAGTTTCTCCATCTACAAATTTAACATTTTTTCCAATATACGTAGTTTTCCTGTAAAGATATATATTAATACACACACACACATACACACATTATAGTAACTACAGAGGTTTATATTTCGATATGTTTATATTTAAATATGTTATTAAGGAGAGGGAAGGAGGAAGAGAGAGAGAGAGAAATAAATGAATTTATGCACATATTCATTTACCTGATCATGGCTCTCTGCATAAGCAATGCACTTTTCAAGGTAGGCCTGTTTGTGAGCGTGTATACTATATCGCCCATGTTCCAGTCTTCATCTTTAAACTCTTTAAGTAGCTAGACACAAGAGAGAAAAATAAGCTTCTGAGTAAAGCATTATTTTTCTTATTTTTAAATCACAATCTGAAGTTATGCATTATATCAGTGCAAACTATTTGATAAGCACATATTAGTCCACCCATATAGCAAAGTTATCACTGTTTAAACTTTTACTGAAATCACAGCTTTTATACAGAATGTCCAAATGACAGTGGTGTAGAGTGTGTTTGTGTGTGTGTGTGTGGTGTTTGCTTTTGTGCAGACAGTTTAATCATTATATTTTAGGATCTTTGCAACTATTTTTCTGTAATAACTGCCACCTCTTGATTAATGCCCACAGTAATGTTATTGCACGGCATGTCTTCCTATAACTTGTACATGGTAGAGATACACTTGTTATATTTATTTGTTTATATGAAAAAAATTAGTAAAAAGAGTGTTTCGCTTCATTTTTACAAAGTGATAAAACAACTGTTTCAAAATTTAAAGTTAATTATCATCAAATAATTACCCTCTTAACAGACCACACATTTTGTGTCTGCATTTCAATTTCTAGTCGGTGTTCAGTCTGGCTCTGTCCCTCTAACACTATACTTTTATGCAACTGAACTTGCTGAGGTTAAGCTTGTGGTGTGAGCTTAAGTTAGTAATTGCTCTCCCTTAAGTAGATACTTGCTATACATATTGACACTGCTGATCCTATCTCCTGCCCCTGAACTTTTCCCTTTATTAATCTACCACTGTGAAACTCTTGCTTTATATTGTTTTGTTTCTTCCCGCCACTCCCGACATACTATAAATTCTCTTCCTCTGTTTGTCCTATAAAGGCTGGTGTTCCTCAGGATTATGTCCTAAATTTACTCTCCCTCTTTAATTCAACACACTGTCATACAATTATGAGAACATAAGCAGTTCTGATCATTGCAGTGCGAATCTTTGGGCACCAGAGGGCAGAACGTGGAAGGCAGAAGAGCAACCATCCATAGATGTTCACAACCTAATCCACGAGCATCTTTCTAAAAAGCAGGCATGAGTGTCAAAATAAGAGAAAGATTTGAAGATGCTATACTGCTGCTTTGAGGATAGAGGAAGGAGCAATGAGCCAAGGAATATAGGCAGCTTTTAGAAGTGAGAAAAGGCAAGGAAATGGCTTCTCCCTTACAGCCTCCAGAAGAAATGCAGCCCTGTTTACACTTTGATTTTAGTCCCAGTAAAACCCATTTCATTTTTGTAACACATAGAACTGTTGTGAATTTGTGCTGTTTAAGCCACTAAGCTTGTGGTAAATTGGATATGGGAATAATAGGAAACTAATGTATAGACCTACACAAATGGGCCAGACTAATTTTTGATAAAAGGGCAACAGAAATTCAATGGAAGGTGGGCGGATGTTTCAACAAATGATGCTTAAAGAATTGGATACCCATGGGTAAAAAGAGAACGATAAAGAACCTTGAGCTAAGTCTTATATATTGCACAGAACTTAACTCAAAATGGATCATGGGCTTAAATATAAAAAATAAAAACTATAAAACATTTAGTAAAAACCATAAGAGAGTCAAAAATTTCTTAAACTTGATACCAAAAGAGAGACCTATACAAGGGAAAAAATGATAAACTAGCTTCATCAAAATTTTTAAAAAATTGCTCTGTGAAAAGCCAATGTGAAGAGGATGAAAGAACAAGCATCAGACTAGGAGAAAAAAATTGTCAACCATGTATCCGGCAAAGAAGTTGAATCTAAAATATATAAAGAACCCTCAAAACTCCACAGTAAATAAACAATGCAATCAAGAAATGGTTAAAAGATATGAACAGATACCTCACCAAAGAGGATATGCAGGAGGCAAATAAGCACATGTTTGGTATCCAGCATCATAAACCATTTGAAAAATAATAAAACCACAATGAGATGTCACTACACACTGATTATAATAGCTAAAATAAAACATAGTGACAACACCAAATGCTGGTGAGGATGTATAGAGGCAGGTCTCN
pathogenic
71,389
A genetic variant on chromosome 3, position 81586168, affects the gene GBE1 (1,4-alpha-glucan branching enzyme 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
TAAAATGAAAGGAAATACAGCAAATTTGGCATAATTTAGATAGTCAAATATTTGTTCAGTAATTGATTAAACTAAGAATGATATTCAAAACTAATGATATTGAAATAATACAACTAGGAAATGATACATAATTTGCTTTTGAACAACAAAAACATGAATAAAATCTAGCATTCTAATTTAACTCATACTGTATGGGTAGACAACATCACAGGCCATATACATTCTGAGTACAGTTGTCATCTGATTTAATAACTCTTGTGTGTTTTATTGACATATAGGGAGAATGGGAGCCACTTATTGAATTGTTTTTAAATGCACCAGTTACAAAAGTAGAGGAAAATCACTATGTCTAAGGGTTTTATTGTAATACTATTTTAACTTTAGTTTTATTAACTAAGGGGGGACCCAGTTTGGTGATACAATAAGAATTTTAAATAATTACATAAAATAGAAGATGATAACTGCTTTCAGAGAATTTACAATCTAAAACAGGATGGTCATATCCTAAATTTAGGATAAAATATTTTTCTATTTGATAACTATGATTATTATAGTTATCATGTATAATAAGTAAGTATGATACATTGCCTAATGCATTACCTTCATCATACAATGTAATAAAATGTTTATTAGGTTAAATTTCAATTTTTTAAGCTGCCATGAATACTCAGAGAGAAAATACCTCACTTTGTGCTATTACTGACTGAAAAATAATTCTAGGTTGACGTACACCTTAAAACATTATTGAATGTGAACAAAGAATGATTAAGGCTTTTAGCAGGAGGTTAAAAAGTAAGATTTGTCACTTGTGAGGGAAAAAAGTCTACATGAAAAAACTAGAAATAGTAAGAGATGGGGCTGATGAGGAACCTTATACCAAGGTGAGAAAATTGAAAACTACAGCATTTTTTTTAAAGTAACAAATACAAGGCTACGTTCCCATGTATTAAAGGAGAATATTCCTTTGTTTTTATGTTTTCTAAGTAAAAATCTTTATAAAATACTTGCTTTTTGACCTGATAATGTTTAAGGAATTATTATAAATGTAGAAGCAGAAGTTATGTTGGTCCAAGTTTAATGTCACAGCTATGCATTGCACAAATTGCCCAGGGGGACAGGAAAGACAGCTAAGAAATGATTATAGTAACCACTTCCTTAAGAGTAGGCGCTACAGTTTTTCTACCCAAAATTAAGCCCTTCTACAACTGTGGTCTCATGGCACCAGTTCATGTCTGAAATAAAGGGCTCATCAGAAAGCTATGATTATTTGTATATATATCTGACTCCTTATATATATTCAGCCCATGAATGTCGACATGGCTGCAAAGAAATGTTCTATATCAAACCTAAGTCTACATAATGACTTTAGTCCTTTAGGCAAACATTAAATGAAAAAAAAACAAAAAACACCAAACTACTTGAACTGTCATTAAAGTTAATAAAATTTTATTGATAAATGATGTGCAAAGTACCATGTACAGTTATTCATTCCTAGTGTCTGACAAATGGTAAGGACTTTTTAATGTTGAATAAAGGAATGGATGAATCCAATCCAAATTTGTTGAGGAAAAACCATACTATTAAGCAAGTACTGGGAATTAAGGAGTAACTTTTACATTAATGCATGATCTGTAGGCATAAATGAATGCTGTAATGAAGTCTAATATGTATTAAATATAGAGCACTGAAGTTTCATATAATTGCATTGATAATGCAAAATTCCATTTATACAGCTAACATGATATTAATCATATTTTCCCTTTGCCTGAATACGTATGAATACTTTAAATCAGAACTTTTAATATTTTGAGAAGCACCTTATTAAAAAGCATAAGAATCGACAGACTAATGAAAGAATTTAATACTTCAATTATAATATCTGTAACTAATGATTACAACTAAGAAATAAATTAAAGATAAATGAAGCAACACAGTATTCACAGAAACAAAAAATATTTACATGGACTCTTACCTGAATCCACTTATCTGGAATTGCCATGGCTAGTCGATAGTCAAAACCACCCCCTCCCTGGGAAATTGGAGAGCACAGAGCTGGCATTCCTGATACATCCTACAACAAAGAACGTCGGTTCATAATGATCAAACTTTTAGTAAATATTCTGACTGTAAAGCCCAGGTCAATAAATGAAAACAATAATAGGGGAATATATTTTTGGGCTGCTTTGGTAACATAAAAGTCGATAAAATTGTGATAGCATATCTCATTTCCCAGAAAGATTTTTGCTTAATGTTTTCACTCCAGGCAAACTTTGATCTCATGAAGCTATTTATTTCTTTTCTTCAGTATCTCCTAGAGAACACAAAATAGCAAAACTGTTATTGCTAAAACATAGTTTCTTATTTTTGAACTACTGTAAAACATTTTTTATTAGTTTTGTTGCTTTCACCAAGCACAACAATACATGTGGCATAAATCTGTTATAGTTGTTCTTTCTGTATGTAGCCCTGATAGGGAGTGTATTTTTGTGAACACTAGCTTTTGATGAAATGGAATGTAGAGTTAGTACATTAACAGTGAAACAGTACAATAGCTTTTACTAGAGTAGGTTACACTTAGAAGGGGTTTTTGAGATTAGGTAGGGATTATCTTCATTTAGCAGATATAGAAACAGAGGTTTATTGAGGTGAAGGGATCTCTCAAGATAGAGAATTTTTTTTTTTTTTTGACACAGAGTTTCACCCTTGTTGCCCAGGCTGGTTTACAGTGGCATGATATCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGATGTCCACCACCATTCTCAGCTAATATTTTTTATATTTTTGATAGAGATGGGGTTTCATCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCGTTCGAGACGGGAGTCCGAACTCCCATCTCGGCCTCCCAAAGTGCTGCGACAACAGGCACAAGCCACCACACCCAGTCGAGAGAGAGGATTCTTAATGGTAGAGCCGGATTCAGATATCAAGCTTTTTGACAGGGGGTCCTTTCTACTCTAGACAATAAGTATCCAATAATTAATCAAATAAATAAAAGTAATTTAAAAATGGGTTTCAAAGATAGGTACAGGGACCCAGATGTAACAAAAGATATTAAGACAACTTTAGGAAAATATGTGCTAAGTATTATCAATTCTAATTCCACAATATCTTTCAAATAAGTTACTTTCCTTTGCTCCATTACCACAACCACAATCTTATTTAATCTTCATTACTGCTTGCCTAGACCATATCCAAATGGCATTCCCCATCTCTACCTTCTCTTTATACTAACTGCTGCCAAATTCATATCTTATGAGACAGTCCGCTCCTATTACTGCCCTTCAATGGATTTCAATAGCCAACAATAGAAAATTCAAATTCCTTAGCTTAAGATTCGATTCAACAATTACACATTAAGCATTTACTATATGATTTACTATCCAATTAGCTACTCCCCTACTCCCTGTTATAGTGTAAGATCCATGAGGGCAAGAGTTTATAGTTGTTGTTCACCGATATACCCTAAGAATCTAGACTAGTTTAATAATACTTGGCACAAGCAGGTTATTCAGTATCTGTTGAGTGAATGAGTGAGGTGCTCTGAGGGATTAAAAGATAAGACATAATATCTGACTTTCAAAGATTAATAAACTAGGACCTAAATACACACAAACATAATTATGAAATGACCATGTGATGTAGTTGTGATCATTAACTAAAGTGCACAGAAAGTGAAATGGAAAGACATCTTTCCACCATTATTTCCTACTATTTCATTTTAATTACTAAGTACTTCGGCCACTTTGAAATATTCCCTCTTGCATGTACTTGTTACGAGCTTTTCTGCATCTGTCAATGCCCAAAGTCTTCCTTAGATTATGACCCTTACTTCCTATAAAAGACTATCACATACCATAGGCTCTCTAAGACTCAGGTCAAATGCTTCTTTTTTTTTTTTTCTTATGGAAGGAAGGTATAAGTAAATATATTATATGGTAGAATACATCCATAAGAAAATAAAATGTTTGCCAGTAATCTTATTTCTGCATAGTTCTTCA
TAAAATGAAAGGAAATACAGCAAATTTGGCATAATTTAGATAGTCAAATATTTGTTCAGTAATTGATTAAACTAAGAATGATATTCAAAACTAATGATATTGAAATAATACAACTAGGAAATGATACATAATTTGCTTTTGAACAACAAAAACATGAATAAAATCTAGCATTCTAATTTAACTCATACTGTATGGGTAGACAACATCACAGGCCATATACATTCTGAGTACAGTTGTCATCTGATTTAATAACTCTTGTGTGTTTTATTGACATATAGGGAGAATGGGAGCCACTTATTGAATTGTTTTTAAATGCACCAGTTACAAAAGTAGAGGAAAATCACTATGTCTAAGGGTTTTATTGTAATACTATTTTAACTTTAGTTTTATTAACTAAGGGGGGACCCAGTTTGGTGATACAATAAGAATTTTAAATAATTACATAAAATAGAAGATGATAACTGCTTTCAGAGAATTTACAATCTAAAACAGGATGGTCATATCCTAAATTTAGGATAAAATATTTTTCTATTTGATAACTATGATTATTATAGTTATCATGTATAATAAGTAAGTATGATACATTGCCTAATGCATTACCTTCATCATACAATGTAATAAAATGTTTATTAGGTTAAATTTCAATTTTTTAAGCTGCCATGAATACTCAGAGAGAAAATACCTCACTTTGTGCTATTACTGACTGAAAAATAATTCTAGGTTGACGTACACCTTAAAACATTATTGAATGTGAACAAAGAATGATTAAGGCTTTTAGCAGGAGGTTAAAAAGTAAGATTTGTCACTTGTGAGGGAAAAAAGTCTACATGAAAAAACTAGAAATAGTAAGAGATGGGGCTGATGAGGAACCTTATACCAAGGTGAGAAAATTGAAAACTACAGCATTTTTTTTAAAGTAACAAATACAAGGCTACGTTCCCATGTATTAAAGGAGAATATTCCTTTGTTTTTATGTTTTCTAAGTAAAAATCTTTATAAAATACTTGCTTTTTGACCTGATAATGTTTAAGGAATTATTATAAATGTAGAAGCAGAAGTTATGTTGGTCCAAGTTTAATGTCACAGCTATGCATTGCACAAATTGCCCAGGGGGACAGGAAAGACAGCTAAGAAATGATTATAGTAACCACTTCCTTAAGAGTAGGCGCTACAGTTTTTCTACCCAAAATTAAGCCCTTCTACAACTGTGGTCTCATGGCACCAGTTCATGTCTGAAATAAAGGGCTCATCAGAAAGCTATGATTATTTGTATATATATCTGACTCCTTATATATATTCAGCCCATGAATGTCGACATGGCTGCAAAGAAATGTTCTATATCAAACCTAAGTCTACATAATGACTTTAGTCCTTTAGGCAAACATTAAATGAAAAAAAAACAAAAAACACCAAACTACTTGAACTGTCATTAAAGTTAATAAAATTTTATTGATAAATGATGTGCAAAGTACCATGTACAGTTATTCATTCCTAGTGTCTGACAAATGGTAAGGACTTTTTAATGTTGAATAAAGGAATGGATGAATCCAATCCAAATTTGTTGAGGAAAAACCATACTATTAAGCAAGTACTGGGAATTAAGGAGTAACTTTTACATTAATGCATGATCTGTAGGCATAAATGAATGCTGTAATGAAGTCTAATATGTATTAAATATAGAGCACTGAAGTTTCATATAATTGCATTGATAATGCAAAATTCCATTTATACAGCTAACATGATATTAATCATATTTTCCCTTTGCCTGAATACGTATGAATACTTTAAATCAGAACTTTTAATATTTTGAGAAGCACCTTATTAAAAAGCATAAGAATCGACAGACTAATGAAAGAATTTAATACTTCAATTATAATATCTGTAACTAATGATTACAACTAAGAAATAAATTAAAGATAAATGAAGCAACACAGTATTCACAGAAACAAAAAATATTTACATGGACTCTTACCTGAATCCACTTATCTGGAATTGCCATGGCTAGTCGATAGTCAAAACCACCCCCTCCCTGGGAAATTGGAGAGCACAGATACATCCTACAACAAAGAACGTCGGTTCATAATGATCAAACTTTTAGTAAATATTCTGACTGTAAAGCCCAGGTCAATAAATGAAAACAATAATAGGGGAATATATTTTTGGGCTGCTTTGGTAACATAAAAGTCGATAAAATTGTGATAGCATATCTCATTTCCCAGAAAGATTTTTGCTTAATGTTTTCACTCCAGGCAAACTTTGATCTCATGAAGCTATTTATTTCTTTTCTTCAGTATCTCCTAGAGAACACAAAATAGCAAAACTGTTATTGCTAAAACATAGTTTCTTATTTTTGAACTACTGTAAAACATTTTTTATTAGTTTTGTTGCTTTCACCAAGCACAACAATACATGTGGCATAAATCTGTTATAGTTGTTCTTTCTGTATGTAGCCCTGATAGGGAGTGTATTTTTGTGAACACTAGCTTTTGATGAAATGGAATGTAGAGTTAGTACATTAACAGTGAAACAGTACAATAGCTTTTACTAGAGTAGGTTACACTTAGAAGGGGTTTTTGAGATTAGGTAGGGATTATCTTCATTTAGCAGATATAGAAACAGAGGTTTATTGAGGTGAAGGGATCTCTCAAGATAGAGAATTTTTTTTTTTTTTTGACACAGAGTTTCACCCTTGTTGCCCAGGCTGGTTTACAGTGGCATGATATCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGATGTCCACCACCATTCTCAGCTAATATTTTTTATATTTTTGATAGAGATGGGGTTTCATCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCGTTCGAGACGGGAGTCCGAACTCCCATCTCGGCCTCCCAAAGTGCTGCGACAACAGGCACAAGCCACCACACCCAGTCGAGAGAGAGGATTCTTAATGGTAGAGCCGGATTCAGATATCAAGCTTTTTGACAGGGGGTCCTTTCTACTCTAGACAATAAGTATCCAATAATTAATCAAATAAATAAAAGTAATTTAAAAATGGGTTTCAAAGATAGGTACAGGGACCCAGATGTAACAAAAGATATTAAGACAACTTTAGGAAAATATGTGCTAAGTATTATCAATTCTAATTCCACAATATCTTTCAAATAAGTTACTTTCCTTTGCTCCATTACCACAACCACAATCTTATTTAATCTTCATTACTGCTTGCCTAGACCATATCCAAATGGCATTCCCCATCTCTACCTTCTCTTTATACTAACTGCTGCCAAATTCATATCTTATGAGACAGTCCGCTCCTATTACTGCCCTTCAATGGATTTCAATAGCCAACAATAGAAAATTCAAATTCCTTAGCTTAAGATTCGATTCAACAATTACACATTAAGCATTTACTATATGATTTACTATCCAATTAGCTACTCCCCTACTCCCTGTTATAGTGTAAGATCCATGAGGGCAAGAGTTTATAGTTGTTGTTCACCGATATACCCTAAGAATCTAGACTAGTTTAATAATACTTGGCACAAGCAGGTTATTCAGTATCTGTTGAGTGAATGAGTGAGGTGCTCTGAGGGATTAAAAGATAAGACATAATATCTGACTTTCAAAGATTAATAAACTAGGACCTAAATACACACAAACATAATTATGAAATGACCATGTGATGTAGTTGTGATCATTAACTAAAGTGCACAGAAAGTGAAATGGAAAGACATCTTTCCACCATTATTTCCTACTATTTCATTTTAATTACTAAGTACTTCGGCCACTTTGAAATATTCCCTCTTGCATGTACTTGTTACGAGCTTTTCTGCATCTGTCAATGCCCAAAGTCTTCCTTAGATTATGACCCTTACTTCCTATAAAAGACTATCACATACCATAGGCTCTCTAAGACTCAGGTCAAATGCTTCTTTTTTTTTTTTTCTTATGGAAGGAAGGTATAAGTAAATATATTATATGGTAGAATACATCCATAAGAAAATAAAATGTTTGCCAGTAATCTTATTTCTGCATAGTTCTTCANNNNNNNNNNNNNN
pathogenic
71,393
Variant chromosome 3, position 81586187, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic? Disease(s)?
pathogenic; ['GBE1-related_disorder', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
GCAAATTTGGCATAATTTAGATAGTCAAATATTTGTTCAGTAATTGATTAAACTAAGAATGATATTCAAAACTAATGATATTGAAATAATACAACTAGGAAATGATACATAATTTGCTTTTGAACAACAAAAACATGAATAAAATCTAGCATTCTAATTTAACTCATACTGTATGGGTAGACAACATCACAGGCCATATACATTCTGAGTACAGTTGTCATCTGATTTAATAACTCTTGTGTGTTTTATTGACATATAGGGAGAATGGGAGCCACTTATTGAATTGTTTTTAAATGCACCAGTTACAAAAGTAGAGGAAAATCACTATGTCTAAGGGTTTTATTGTAATACTATTTTAACTTTAGTTTTATTAACTAAGGGGGGACCCAGTTTGGTGATACAATAAGAATTTTAAATAATTACATAAAATAGAAGATGATAACTGCTTTCAGAGAATTTACAATCTAAAACAGGATGGTCATATCCTAAATTTAGGATAAAATATTTTTCTATTTGATAACTATGATTATTATAGTTATCATGTATAATAAGTAAGTATGATACATTGCCTAATGCATTACCTTCATCATACAATGTAATAAAATGTTTATTAGGTTAAATTTCAATTTTTTAAGCTGCCATGAATACTCAGAGAGAAAATACCTCACTTTGTGCTATTACTGACTGAAAAATAATTCTAGGTTGACGTACACCTTAAAACATTATTGAATGTGAACAAAGAATGATTAAGGCTTTTAGCAGGAGGTTAAAAAGTAAGATTTGTCACTTGTGAGGGAAAAAAGTCTACATGAAAAAACTAGAAATAGTAAGAGATGGGGCTGATGAGGAACCTTATACCAAGGTGAGAAAATTGAAAACTACAGCATTTTTTTTAAAGTAACAAATACAAGGCTACGTTCCCATGTATTAAAGGAGAATATTCCTTTGTTTTTATGTTTTCTAAGTAAAAATCTTTATAAAATACTTGCTTTTTGACCTGATAATGTTTAAGGAATTATTATAAATGTAGAAGCAGAAGTTATGTTGGTCCAAGTTTAATGTCACAGCTATGCATTGCACAAATTGCCCAGGGGGACAGGAAAGACAGCTAAGAAATGATTATAGTAACCACTTCCTTAAGAGTAGGCGCTACAGTTTTTCTACCCAAAATTAAGCCCTTCTACAACTGTGGTCTCATGGCACCAGTTCATGTCTGAAATAAAGGGCTCATCAGAAAGCTATGATTATTTGTATATATATCTGACTCCTTATATATATTCAGCCCATGAATGTCGACATGGCTGCAAAGAAATGTTCTATATCAAACCTAAGTCTACATAATGACTTTAGTCCTTTAGGCAAACATTAAATGAAAAAAAAACAAAAAACACCAAACTACTTGAACTGTCATTAAAGTTAATAAAATTTTATTGATAAATGATGTGCAAAGTACCATGTACAGTTATTCATTCCTAGTGTCTGACAAATGGTAAGGACTTTTTAATGTTGAATAAAGGAATGGATGAATCCAATCCAAATTTGTTGAGGAAAAACCATACTATTAAGCAAGTACTGGGAATTAAGGAGTAACTTTTACATTAATGCATGATCTGTAGGCATAAATGAATGCTGTAATGAAGTCTAATATGTATTAAATATAGAGCACTGAAGTTTCATATAATTGCATTGATAATGCAAAATTCCATTTATACAGCTAACATGATATTAATCATATTTTCCCTTTGCCTGAATACGTATGAATACTTTAAATCAGAACTTTTAATATTTTGAGAAGCACCTTATTAAAAAGCATAAGAATCGACAGACTAATGAAAGAATTTAATACTTCAATTATAATATCTGTAACTAATGATTACAACTAAGAAATAAATTAAAGATAAATGAAGCAACACAGTATTCACAGAAACAAAAAATATTTACATGGACTCTTACCTGAATCCACTTATCTGGAATTGCCATGGCTAGTCGATAGTCAAAACCACCCCCTCCCTGGGAAATTGGAGAGCACAGAGCTGGCATTCCTGATACATCCTACAACAAAGAACGTCGGTTCATAATGATCAAACTTTTAGTAAATATTCTGACTGTAAAGCCCAGGTCAATAAATGAAAACAATAATAGGGGAATATATTTTTGGGCTGCTTTGGTAACATAAAAGTCGATAAAATTGTGATAGCATATCTCATTTCCCAGAAAGATTTTTGCTTAATGTTTTCACTCCAGGCAAACTTTGATCTCATGAAGCTATTTATTTCTTTTCTTCAGTATCTCCTAGAGAACACAAAATAGCAAAACTGTTATTGCTAAAACATAGTTTCTTATTTTTGAACTACTGTAAAACATTTTTTATTAGTTTTGTTGCTTTCACCAAGCACAACAATACATGTGGCATAAATCTGTTATAGTTGTTCTTTCTGTATGTAGCCCTGATAGGGAGTGTATTTTTGTGAACACTAGCTTTTGATGAAATGGAATGTAGAGTTAGTACATTAACAGTGAAACAGTACAATAGCTTTTACTAGAGTAGGTTACACTTAGAAGGGGTTTTTGAGATTAGGTAGGGATTATCTTCATTTAGCAGATATAGAAACAGAGGTTTATTGAGGTGAAGGGATCTCTCAAGATAGAGAATTTTTTTTTTTTTTTGACACAGAGTTTCACCCTTGTTGCCCAGGCTGGTTTACAGTGGCATGATATCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGATGTCCACCACCATTCTCAGCTAATATTTTTTATATTTTTGATAGAGATGGGGTTTCATCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCGTTCGAGACGGGAGTCCGAACTCCCATCTCGGCCTCCCAAAGTGCTGCGACAACAGGCACAAGCCACCACACCCAGTCGAGAGAGAGGATTCTTAATGGTAGAGCCGGATTCAGATATCAAGCTTTTTGACAGGGGGTCCTTTCTACTCTAGACAATAAGTATCCAATAATTAATCAAATAAATAAAAGTAATTTAAAAATGGGTTTCAAAGATAGGTACAGGGACCCAGATGTAACAAAAGATATTAAGACAACTTTAGGAAAATATGTGCTAAGTATTATCAATTCTAATTCCACAATATCTTTCAAATAAGTTACTTTCCTTTGCTCCATTACCACAACCACAATCTTATTTAATCTTCATTACTGCTTGCCTAGACCATATCCAAATGGCATTCCCCATCTCTACCTTCTCTTTATACTAACTGCTGCCAAATTCATATCTTATGAGACAGTCCGCTCCTATTACTGCCCTTCAATGGATTTCAATAGCCAACAATAGAAAATTCAAATTCCTTAGCTTAAGATTCGATTCAACAATTACACATTAAGCATTTACTATATGATTTACTATCCAATTAGCTACTCCCCTACTCCCTGTTATAGTGTAAGATCCATGAGGGCAAGAGTTTATAGTTGTTGTTCACCGATATACCCTAAGAATCTAGACTAGTTTAATAATACTTGGCACAAGCAGGTTATTCAGTATCTGTTGAGTGAATGAGTGAGGTGCTCTGAGGGATTAAAAGATAAGACATAATATCTGACTTTCAAAGATTAATAAACTAGGACCTAAATACACACAAACATAATTATGAAATGACCATGTGATGTAGTTGTGATCATTAACTAAAGTGCACAGAAAGTGAAATGGAAAGACATCTTTCCACCATTATTTCCTACTATTTCATTTTAATTACTAAGTACTTCGGCCACTTTGAAATATTCCCTCTTGCATGTACTTGTTACGAGCTTTTCTGCATCTGTCAATGCCCAAAGTCTTCCTTAGATTATGACCCTTACTTCCTATAAAAGACTATCACATACCATAGGCTCTCTAAGACTCAGGTCAAATGCTTCTTTTTTTTTTTTTCTTATGGAAGGAAGGTATAAGTAAATATATTATATGGTAGAATACATCCATAAGAAAATAAAATGTTTGCCAGTAATCTTATTTCTGCATAGTTCTTCATGGTTTATAAAGTAGAAAA
GCAAATTTGGCATAATTTAGATAGTCAAATATTTGTTCAGTAATTGATTAAACTAAGAATGATATTCAAAACTAATGATATTGAAATAATACAACTAGGAAATGATACATAATTTGCTTTTGAACAACAAAAACATGAATAAAATCTAGCATTCTAATTTAACTCATACTGTATGGGTAGACAACATCACAGGCCATATACATTCTGAGTACAGTTGTCATCTGATTTAATAACTCTTGTGTGTTTTATTGACATATAGGGAGAATGGGAGCCACTTATTGAATTGTTTTTAAATGCACCAGTTACAAAAGTAGAGGAAAATCACTATGTCTAAGGGTTTTATTGTAATACTATTTTAACTTTAGTTTTATTAACTAAGGGGGGACCCAGTTTGGTGATACAATAAGAATTTTAAATAATTACATAAAATAGAAGATGATAACTGCTTTCAGAGAATTTACAATCTAAAACAGGATGGTCATATCCTAAATTTAGGATAAAATATTTTTCTATTTGATAACTATGATTATTATAGTTATCATGTATAATAAGTAAGTATGATACATTGCCTAATGCATTACCTTCATCATACAATGTAATAAAATGTTTATTAGGTTAAATTTCAATTTTTTAAGCTGCCATGAATACTCAGAGAGAAAATACCTCACTTTGTGCTATTACTGACTGAAAAATAATTCTAGGTTGACGTACACCTTAAAACATTATTGAATGTGAACAAAGAATGATTAAGGCTTTTAGCAGGAGGTTAAAAAGTAAGATTTGTCACTTGTGAGGGAAAAAAGTCTACATGAAAAAACTAGAAATAGTAAGAGATGGGGCTGATGAGGAACCTTATACCAAGGTGAGAAAATTGAAAACTACAGCATTTTTTTTAAAGTAACAAATACAAGGCTACGTTCCCATGTATTAAAGGAGAATATTCCTTTGTTTTTATGTTTTCTAAGTAAAAATCTTTATAAAATACTTGCTTTTTGACCTGATAATGTTTAAGGAATTATTATAAATGTAGAAGCAGAAGTTATGTTGGTCCAAGTTTAATGTCACAGCTATGCATTGCACAAATTGCCCAGGGGGACAGGAAAGACAGCTAAGAAATGATTATAGTAACCACTTCCTTAAGAGTAGGCGCTACAGTTTTTCTACCCAAAATTAAGCCCTTCTACAACTGTGGTCTCATGGCACCAGTTCATGTCTGAAATAAAGGGCTCATCAGAAAGCTATGATTATTTGTATATATATCTGACTCCTTATATATATTCAGCCCATGAATGTCGACATGGCTGCAAAGAAATGTTCTATATCAAACCTAAGTCTACATAATGACTTTAGTCCTTTAGGCAAACATTAAATGAAAAAAAAACAAAAAACACCAAACTACTTGAACTGTCATTAAAGTTAATAAAATTTTATTGATAAATGATGTGCAAAGTACCATGTACAGTTATTCATTCCTAGTGTCTGACAAATGGTAAGGACTTTTTAATGTTGAATAAAGGAATGGATGAATCCAATCCAAATTTGTTGAGGAAAAACCATACTATTAAGCAAGTACTGGGAATTAAGGAGTAACTTTTACATTAATGCATGATCTGTAGGCATAAATGAATGCTGTAATGAAGTCTAATATGTATTAAATATAGAGCACTGAAGTTTCATATAATTGCATTGATAATGCAAAATTCCATTTATACAGCTAACATGATATTAATCATATTTTCCCTTTGCCTGAATACGTATGAATACTTTAAATCAGAACTTTTAATATTTTGAGAAGCACCTTATTAAAAAGCATAAGAATCGACAGACTAATGAAAGAATTTAATACTTCAATTATAATATCTGTAACTAATGATTACAACTAAGAAATAAATTAAAGATAAATGAAGCAACACAGTATTCACAGAAACAAAAAATATTTACATGGACTCTTACCTGAATCCACTTATCTGGAATTGCCATGGCTAGTCGATAGTCAAAACCACCCCCTCCCTGGGAAATTGGAGAGCACAGAGCTGGCATTCCTGATACTCCTACAACAAAGAACGTCGGTTCATAATGATCAAACTTTTAGTAAATATTCTGACTGTAAAGCCCAGGTCAATAAATGAAAACAATAATAGGGGAATATATTTTTGGGCTGCTTTGGTAACATAAAAGTCGATAAAATTGTGATAGCATATCTCATTTCCCAGAAAGATTTTTGCTTAATGTTTTCACTCCAGGCAAACTTTGATCTCATGAAGCTATTTATTTCTTTTCTTCAGTATCTCCTAGAGAACACAAAATAGCAAAACTGTTATTGCTAAAACATAGTTTCTTATTTTTGAACTACTGTAAAACATTTTTTATTAGTTTTGTTGCTTTCACCAAGCACAACAATACATGTGGCATAAATCTGTTATAGTTGTTCTTTCTGTATGTAGCCCTGATAGGGAGTGTATTTTTGTGAACACTAGCTTTTGATGAAATGGAATGTAGAGTTAGTACATTAACAGTGAAACAGTACAATAGCTTTTACTAGAGTAGGTTACACTTAGAAGGGGTTTTTGAGATTAGGTAGGGATTATCTTCATTTAGCAGATATAGAAACAGAGGTTTATTGAGGTGAAGGGATCTCTCAAGATAGAGAATTTTTTTTTTTTTTTGACACAGAGTTTCACCCTTGTTGCCCAGGCTGGTTTACAGTGGCATGATATCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGATTACAGATGTCCACCACCATTCTCAGCTAATATTTTTTATATTTTTGATAGAGATGGGGTTTCATCATGTTGGCCAGGCTGTTCTCGAACTCCTGACCGTTCGAGACGGGAGTCCGAACTCCCATCTCGGCCTCCCAAAGTGCTGCGACAACAGGCACAAGCCACCACACCCAGTCGAGAGAGAGGATTCTTAATGGTAGAGCCGGATTCAGATATCAAGCTTTTTGACAGGGGGTCCTTTCTACTCTAGACAATAAGTATCCAATAATTAATCAAATAAATAAAAGTAATTTAAAAATGGGTTTCAAAGATAGGTACAGGGACCCAGATGTAACAAAAGATATTAAGACAACTTTAGGAAAATATGTGCTAAGTATTATCAATTCTAATTCCACAATATCTTTCAAATAAGTTACTTTCCTTTGCTCCATTACCACAACCACAATCTTATTTAATCTTCATTACTGCTTGCCTAGACCATATCCAAATGGCATTCCCCATCTCTACCTTCTCTTTATACTAACTGCTGCCAAATTCATATCTTATGAGACAGTCCGCTCCTATTACTGCCCTTCAATGGATTTCAATAGCCAACAATAGAAAATTCAAATTCCTTAGCTTAAGATTCGATTCAACAATTACACATTAAGCATTTACTATATGATTTACTATCCAATTAGCTACTCCCCTACTCCCTGTTATAGTGTAAGATCCATGAGGGCAAGAGTTTATAGTTGTTGTTCACCGATATACCCTAAGAATCTAGACTAGTTTAATAATACTTGGCACAAGCAGGTTATTCAGTATCTGTTGAGTGAATGAGTGAGGTGCTCTGAGGGATTAAAAGATAAGACATAATATCTGACTTTCAAAGATTAATAAACTAGGACCTAAATACACACAAACATAATTATGAAATGACCATGTGATGTAGTTGTGATCATTAACTAAAGTGCACAGAAAGTGAAATGGAAAGACATCTTTCCACCATTATTTCCTACTATTTCATTTTAATTACTAAGTACTTCGGCCACTTTGAAATATTCCCTCTTGCATGTACTTGTTACGAGCTTTTCTGCATCTGTCAATGCCCAAAGTCTTCCTTAGATTATGACCCTTACTTCCTATAAAAGACTATCACATACCATAGGCTCTCTAAGACTCAGGTCAAATGCTTCTTTTTTTTTTTTTCTTATGGAAGGAAGGTATAAGTAAATATATTATATGGTAGAATACATCCATAAGAAAATAAAATGTTTGCCAGTAATCTTATTTCTGCATAGTTCTTCATGGTTTATAAAGTAGAAAAN
pathogenic
71,395
Variant on chromosome 3, at position 81593962, affecting GBE1 (1,4-alpha-glucan branching enzyme 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
TCTTATACTTCAAGTTCTTTCATGTTTATATTTCAGCAGCAATATAACTACCAAGTTTCTCATTTTTGATGCTGTCGTTCTTTAATTTTAAAATATTTAATTGACAAATAAAAATTGCATATATTCAAGGTTTCCAAGGTACTGATTTGATATTGGCATACATTGTGTACTGATTACTATACTCAAATTGACACAACTGTCACCACCCATAGTTACCACATGTGTATGTGTGTGTGCGCGCGTGTGTGTGTGTTTAGGATACTTAAAGTTGGCTCTCATCAAATACCAAGTAATATTATTAACTATAGTTACATTAGATTCCGCCTAGCTTATGCACCTTAAAACAAAAGTGCGCCCTTTGACCAACATCTCTCCATTTCCTCCACTCCTCAGCCCCTGGCAACCATCATTCAACTAGCAAATGTTTGAGTCACACTTTGTAAGAATTTGGCAGACATTGCTTCTGTAAATAGAATACTATGAGTCCAACCATTTTTTTTTCATGCATGCAAGTAAATTGCAGGTAAATTCATGACCTCCTGATAAATTTCCCTTTATTACTGAGTTTATAAATCAAATACTGTGTCTTGATATTAACTGCCTTAAATCTCAACTTTTCTGGTATTCTATTTGATCTTCTGCTGTGCGGTTTCAGGGATTTTGTTTGTTGCTTTCTCTGTCATTCCAAGGAAGAAAAAAATGTTAAACAACTCAGAATGTTTTTCTTTAACCATTTCTTGGATTCTGTATCTATAAAAAGCACATCCCATATCCATAAACTTTGGTTCATTTCTCTAATACCACAAATTCTTGGAAGATACTCCTCTCTCGGTGAGGTAGTTTCTGCAGGGGCACGTAGGTGTTTAAATCTAGGAAAAGATTTTTCTTAACTTTTGCCTTTGCATACCGTAAGTCAGCTTCCCCGAAACTGGAAAATGGATATCAATAAAATCTGTTGTGTTTTACAGATTCAACTTCTTTCCCAGGAACATTTCAAGTGGGCAGCATCATGAGTAAGATCAAGCAGTAGCACACTTTGAATGTTTAGCTTCTTTCCTTGGCAGTCACTTTTCAAGATTTACAGTCACGTTTTTCACCCCCTTTGTTTTTTTCTTTTTTTCTGTTTATTGCTAGTGAACATTTGGCCATTAAAAAATAATAATAATTGGCTGGGTGTGGTGGCTCACTCCTGCAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAACCTAGCCAACAGGGTGAAACCCCGTCTCTATTAAAAAAATACAAAAATTAGCCAGGTGTGATGATGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAAGAGATGGAGTTTGCAGTGATCTGAGTTCACACCACTGCGCTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAGAACAATAATAATAATAATAATAATAATAATAATTGTTCCCATGTCATCTATTGAGGGATTAGTATTCTGTGATTCTACTTCTTTGTACAACTTTTAAGCTGAGAGTCTGATAAATATTTTTAATTTCAAATTAATTTATAATTTAATTTTAACCAGGTAAATCTGCAATTAAAATACATATTTTATTCAATGTGTAATATGTAAAAACCTATGCATTCACAACTGTTCTCATCTATTATTTTTTATTTTCATTGGAAGTGCTGTAGTGTTCACATCCTGAGAGTGTTACAATAAATGGTTTCCTCAAAAAAATTTTAAGCTACACACGAATTATAGCATATTCAGCAGATATATTTCAAAGGAAATGATTACCTTTTGTTTACTTATAAAATGTACTTATAATCTACCTTTTGCCAAAATGGGATAATAAATTACTACAGAGAAAGCATATGTAATGGAACTAATAAAAACCAAGACACCAGTAATGGCTATTGCAGCTTCTGCAATTAACCCCAAACCTGATTATATCAGGTTACCTACCCACTCCATGGTGATGATAAAGCATGGACGTAACACCATCAAAACGAAATCCATCAAAGCGATATTCTTCCAACCACCATCTTATGTTTGACAGAAGGAATCTTAAAATTTCCCAGCTAAAATATAAGAGAAATATGTATTTAAGCAAAATGTGAAGAGCATTTTCCTTAACTGTTATAAATGTTTGCTATTAACTAAAATTATAGGGCTCTATCTCAAGAATCATAATGTTCAAGAAACATAACATATATAAAAGTCACAAAACTAACAAGAATCTCAGTTGGTTGATGAAACTCATTCTAAAAGGAAAATTATTAATTTTTATAGTCCACAAAGTCACTTAATATCTAAGAAAATTTAGGGAAAACATTTTTTAACATGAATTCCAAAACCAGAGACCCTGCCTTATTCAATGCTGTGTTCTCAGCAACCGGAAAAGTGATTACTACATAGTAGTGCTCGAAAAAAGCAAAGGAATAAAATCTATTACCAGTCCCTGAATTTTTAAAAAGGATTTTCATGTAATATAACCATAATTATGTGATTTTTCTCCTTTCAGAAAATGCATTTTCATTATCAGTAGAAAAAGTACTTTCAATGACTTTTTGTTTAAAATATTTCCTCATGCTACAATTTCAAATAGATATGATTCAGAATAAAAAGTAAAAGATAAAAACAGAAAATCAACCACATGGTAAGCAATATTACATTGACTAGACTGTTGTTTCGTGAAGGTAAAAAAAGAAAACCTAATTACCAAAAACCACATGTGTAATAAAGTACAAAGTTTTATGAGTTTAAGAGTCCTACATCCATAAAAAGAGAGGGAAAACAAAGAAACTGTGTAACTCAATTAAAAACACCACACGAAACAAGTCTGTTTTGGACAGTTGAAATAAAGGCATCATCAATTAGTATTTTCTTTAGTCATATAGTTATGGTTGAGTTCTCTATCTTATTATAACTGTGGTTTTAAGACTTTAATACCTCATTTAGTTTAATGACAAAGCTCCGTAATAGTGTACACAAATCTTTACCCCAGTCGAAATTCATGTATTTTTAAAACCTTCCATATATTAAAGAATAATCTGACATAAATGAAGATTAAGTCATCAAAATTAACTTCAGAATTGTAAATCCAAACTTTGGGGAAAGATGAGTGTTGTTAGTAATTAACTGTTTTAAATAAGTTACTTTGAGTTTCGAAAATTTACTAAGTTAAAAAAAAAAAAAAGAAAAGAAATCCAAGCAATCTAATAGATATAAAAGGGAGACAGGAGGTTCAAGATTTTAAGGTTAAGCAACCTTGAAGGTAGTATTTGCTTATGATTCTATAATTCCATGTTCATACGGTTTAAGGGGGAAATCCTGTTTAACAGAAGAAATGAATAGAAACAAGGAGATATAATAGAACTGTATAAAATCAAAATCACTCTATTTTGCATAGGAATTTTCATTACCATATTGTTTATAGTTTTCTTATAATTAATAAATTTTATTTTTCAGAGTTTTAGATTCACAGAAAAATTGAAAGGAAGATACAGAGAGTTCCCTGTCCCCAAGCATATATCGATATTTTGTAACAAGTTTGCTATATGAGAATTTCAGAAAGAAGACTTGAATAAAATTGCATACAAATAATCCTTTGAAATTAATTTTTTGAAAAGAATATACTCTTCTAAGTAAAGGGAAAGATAAGTGAATTATATTGCAATTCAGTGAAACACAGAAGAGGGAAAGGATGTGAACCTGATCACTGAATAGAAAGAATTGCCCAGTGTCACAGCAGGTTTCACTAAAGTCAAAGGTAATGCAAGTCCTGTTGATTCCTTTTACTACAATATTTAATCTATTCTACTCTTGACCAAAACAGGAAATAAACTGTGTTTAAAATATTAAAATAAAAAGACACATTTGGGAATAACTATGTTAGTAGACAGATTCTTAGCATGTATGAACAACAAAAAAATTCCTGTGATAATCAGAAAAGAAACAATAGTGACAATGGAGCACCTAATTAAAAAGTTCTCATGAGTTAGAAACTGTATTCTATTCTTCAGATCTCTGAAATACTCTTACACATTGTCTGAAAATCATAAAGT
TCTTATACTTCAAGTTCTTTCATGTTTATATTTCAGCAGCAATATAACTACCAAGTTTCTCATTTTTGATGCTGTCGTTCTTTAATTTTAAAATATTTAATTGACAAATAAAAATTGCATATATTCAAGGTTTCCAAGGTACTGATTTGATATTGGCATACATTGTGTACTGATTACTATACTCAAATTGACACAACTGTCACCACCCATAGTTACCACATGTGTATGTGTGTGTGCGCGCGTGTGTGTGTGTTTAGGATACTTAAAGTTGGCTCTCATCAAATACCAAGTAATATTATTAACTATAGTTACATTAGATTCCGCCTAGCTTATGCACCTTAAAACAAAAGTGCGCCCTTTGACCAACATCTCTCCATTTCCTCCACTCCTCAGCCCCTGGCAACCATCATTCAACTAGCAAATGTTTGAGTCACACTTTGTAAGAATTTGGCAGACATTGCTTCTGTAAATAGAATACTATGAGTCCAACCATTTTTTTTTCATGCATGCAAGTAAATTGCAGGTAAATTCATGACCTCCTGATAAATTTCCCTTTATTACTGAGTTTATAAATCAAATACTGTGTCTTGATATTAACTGCCTTAAATCTCAACTTTTCTGGTATTCTATTTGATCTTCTGCTGTGCGGTTTCAGGGATTTTGTTTGTTGCTTTCTCTGTCATTCCAAGGAAGAAAAAAATGTTAAACAACTCAGAATGTTTTTCTTTAACCATTTCTTGGATTCTGTATCTATAAAAAGCACATCCCATATCCATAAACTTTGGTTCATTTCTCTAATACCACAAATTCTTGGAAGATACTCCTCTCTCGGTGAGGTAGTTTCTGCAGGGGCACGTAGGTGTTTAAATCTAGGAAAAGATTTTTCTTAACTTTTGCCTTTGCATACCGTAAGTCAGCTTCCCCGAAACTGGAAAATGGATATCAATAAAATCTGTTGTGTTTTACAGATTCAACTTCTTTCCCAGGAACATTTCAAGTGGGCAGCATCATGAGTAAGATCAAGCAGTAGCACACTTTGAATGTTTAGCTTCTTTCCTTGGCAGTCACTTTTCAAGATTTACAGTCACGTTTTTCACCCCCTTTGTTTTTTTCTTTTTTTCTGTTTATTGCTAGTGAACATTTGGCCATTAAAAAATAATAATAATTGGCTGGGTGTGGTGGCTCACTCCTGCAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAACCTAGCCAACAGGGTGAAACCCCGTCTCTATTAAAAAAATACAAAAATTAGCCAGGTGTGATGATGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAAGAGATGGAGTTTGCAGTGATCTGAGTTCACACCACTGCGCTCCAGCCTGGGCAACAGAACAAGACTCTGTCTCAAGAACAATAATAATAATAATAATAATAATAATAATTGTTCCCATGTCATCTATTGAGGGATTAGTATTCTGTGATTCTACTTCTTTGTACAACTTTTAAGCTGAGAGTCTGATAAATATTTTTAATTTCAAATTAATTTATAATTTAATTTTAACCAGGTAAATCTGCAATTAAAATACATATTTTATTCAATGTGTAATATGTAAAAACCTATGCATTCACAACTGTTCTCATCTATTATTTTTTATTTTCATTGGAAGTGCTGTAGTGTTCACATCCTGAGAGTGTTACAATAAATGGTTTCCTCAAAAAAATTTTAAGCTACACACGAATTATAGCATATTCAGCAGATATATTTCAAAGGAAATGATTACCTTTTGTTTACTTATAAAATGTACTTATAATCTACCTTTTGCCAAAATGGGATAATAAATTACTACAGAGAAAGCATATGTAATGGAACTAATAAAAACCAAGACACCAGTAATGGCTATTGCAGCTTCTGCAATTAACCCCAAACCTGATTATATCAGGTTACCTACCCACTCCATGGTGATGATAAAGCATGGACGTAACACCATCAAAACGAAATCCATCAAGCGATATTCTTCCAACCACCATCTTATGTTTGACAGAAGGAATCTTAAAATTTCCCAGCTAAAATATAAGAGAAATATGTATTTAAGCAAAATGTGAAGAGCATTTTCCTTAACTGTTATAAATGTTTGCTATTAACTAAAATTATAGGGCTCTATCTCAAGAATCATAATGTTCAAGAAACATAACATATATAAAAGTCACAAAACTAACAAGAATCTCAGTTGGTTGATGAAACTCATTCTAAAAGGAAAATTATTAATTTTTATAGTCCACAAAGTCACTTAATATCTAAGAAAATTTAGGGAAAACATTTTTTAACATGAATTCCAAAACCAGAGACCCTGCCTTATTCAATGCTGTGTTCTCAGCAACCGGAAAAGTGATTACTACATAGTAGTGCTCGAAAAAAGCAAAGGAATAAAATCTATTACCAGTCCCTGAATTTTTAAAAAGGATTTTCATGTAATATAACCATAATTATGTGATTTTTCTCCTTTCAGAAAATGCATTTTCATTATCAGTAGAAAAAGTACTTTCAATGACTTTTTGTTTAAAATATTTCCTCATGCTACAATTTCAAATAGATATGATTCAGAATAAAAAGTAAAAGATAAAAACAGAAAATCAACCACATGGTAAGCAATATTACATTGACTAGACTGTTGTTTCGTGAAGGTAAAAAAAGAAAACCTAATTACCAAAAACCACATGTGTAATAAAGTACAAAGTTTTATGAGTTTAAGAGTCCTACATCCATAAAAAGAGAGGGAAAACAAAGAAACTGTGTAACTCAATTAAAAACACCACACGAAACAAGTCTGTTTTGGACAGTTGAAATAAAGGCATCATCAATTAGTATTTTCTTTAGTCATATAGTTATGGTTGAGTTCTCTATCTTATTATAACTGTGGTTTTAAGACTTTAATACCTCATTTAGTTTAATGACAAAGCTCCGTAATAGTGTACACAAATCTTTACCCCAGTCGAAATTCATGTATTTTTAAAACCTTCCATATATTAAAGAATAATCTGACATAAATGAAGATTAAGTCATCAAAATTAACTTCAGAATTGTAAATCCAAACTTTGGGGAAAGATGAGTGTTGTTAGTAATTAACTGTTTTAAATAAGTTACTTTGAGTTTCGAAAATTTACTAAGTTAAAAAAAAAAAAAAGAAAAGAAATCCAAGCAATCTAATAGATATAAAAGGGAGACAGGAGGTTCAAGATTTTAAGGTTAAGCAACCTTGAAGGTAGTATTTGCTTATGATTCTATAATTCCATGTTCATACGGTTTAAGGGGGAAATCCTGTTTAACAGAAGAAATGAATAGAAACAAGGAGATATAATAGAACTGTATAAAATCAAAATCACTCTATTTTGCATAGGAATTTTCATTACCATATTGTTTATAGTTTTCTTATAATTAATAAATTTTATTTTTCAGAGTTTTAGATTCACAGAAAAATTGAAAGGAAGATACAGAGAGTTCCCTGTCCCCAAGCATATATCGATATTTTGTAACAAGTTTGCTATATGAGAATTTCAGAAAGAAGACTTGAATAAAATTGCATACAAATAATCCTTTGAAATTAATTTTTTGAAAAGAATATACTCTTCTAAGTAAAGGGAAAGATAAGTGAATTATATTGCAATTCAGTGAAACACAGAAGAGGGAAAGGATGTGAACCTGATCACTGAATAGAAAGAATTGCCCAGTGTCACAGCAGGTTTCACTAAAGTCAAAGGTAATGCAAGTCCTGTTGATTCCTTTTACTACAATATTTAATCTATTCTACTCTTGACCAAAACAGGAAATAAACTGTGTTTAAAATATTAAAATAAAAAGACACATTTGGGAATAACTATGTTAGTAGACAGATTCTTAGCATGTATGAACAACAAAAAAATTCCTGTGATAATCAGAAAAGAAACAATAGTGACAATGGAGCACCTAATTAAAAAGTTCTCATGAGTTAGAAACTGTATTCTATTCTTCAGATCTCTGAAATACTCTTACACATTGTCTGAAAATCATAAAGTN
pathogenic
71,399
Clinical significance of chromosome 3, position 81642860, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
GACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTACAACAAGGTACACTACAATAAACATGTGAATAAAATAAAAATGTTGTATAACATAAAAATCCATCCACTTAATGTATTTCTTTTTAAGGTATAATTCTACAGAAGAATTGTTTTAAAACATAAAAATCTAACTATTTAATAAATATATTTCTTTCATAAGGCACAGTTCTACAAAATAGAGTCAACCCTCCTTCATCCAATTATAAACCAGAGAGTTCAATTAATTGAATTTCTTGGGCATATTCTACTTCTATAAGATGTACTCAATGTAATTAGTAGAGTTATGTAATTGCAGTTTTTTGCCAATAAAAGTAAGGGCAAAAACCACAATTACTTTTGCACCAACCTAATATATCACAGAATTAACACAGATTTAGTCTTTTTTATTTGCCATAAATCTGTGGCATAATAATAAATGTTCAAAAGGTGACATGAATACAAAATACCTTCATGAGCAAAACTATATTAGTCCCCAAACTCTGCCTCCTTCTATAATAAAAAGCCTGAGAATAAGAATGATTAATCAGTTTGTACCAGAGTGAGTCTAGGCCAGGAACCCAGCTACCATCTTGTTTCTTTTCTCACCTATTACACTGTCTTATCTGGCATGAGTGATTCCTGAATGGCTATGAAATATAAAATAATGTATGATATCCAGAAATAATGTATGAATTTCCTTCATATATAAGTCATCTAATTTAGGTTGAAAAATGAGACCTCTTCATTTTATAAAATTATTTGCTGAGACATTTTTCTATACAGCCTATTTTCTAGGTATATTTATGTTTATGTATGATGCAACACTGGAAAGAAAATTCATTAATTTTTTTCAAAAATACATACACATATATAAAATATATATAATATGTATATAATACATATACATATTTCAAATATGTATATGTATTATAAAAATATGTATTATACATTACTTGATACTTTGCTTTTAATATGCTTGACATTTTCATTTTTTCACTTACAATAAATAATAAACACAAGTTCATGGTTTTTTAACTTGTCTTTTTAATTTTTGCCATATGCTATTTAATCACGTAAAACACTCTTCTCCTTAAATGGTAGAAGAGGTCAGAGATCTGTCTGATCTTAACAAATGGTTTCAACACTAAGCCTTAGTTTATTTATCTGTAAGATGGCTATAACAATAGTGTTTACCACATGTAAGTAGAGTTGCTGTGCAGATTAAATAAGATAAAATAGGTAGCTAATATATCTAAAACACTTGGCACCATACATGAAACATATTATATACTAGTAACTGTTGTTTTATAGTTATAAATTAATTTAGCTGTAATCAAAACCATGTAATTTTAAGATATGAAGCAATGAAGTATGATTTTTTTAAATGGCCTACTTAAAACAATGTATTTCTCTAGTAAAAGGAGACTGGCTATGGTTTAAGTCAAATTGATAAAGTGGCCTTTTAGATATTAAAAAAAAATGATTCACAGTAAAATTTTTAAATGATTATATAACCAATATATTTTACATGGCGTAAGATATGTAAAATTGAAATTTAATGAAATATACCACAAATACATGTGCTATACAAAACAAGGTAAAATCCCCTGTACAACAAAAATAAATCCAATTAAGAACATTAAGTACCAGTGAGAGAGTACACACACAATGAATTTAGTGAAATTCTTAAAAATTAATGTTAAACAGCAACAATAGAAAACATTTCTATATTGTATGTACCTACCTGGAGTAGGCAAACAATCTGCTATCCCAAAGATCATGAGTCCCTCTAGGTCCAGAATGAAAATAACAGGAATCTGTCCCATCAAACATATTCAATCCATCTGCTGAATTTTTTGAAGCATGGCTGTGTACCACATCTAAGAGGACTATGATACCCATGGAATGAGCTGTGTCTACCAGTTCTTGTAGCTCTTCAGGTGTTCCATAACGGCTAACAATGAAGAACACAGCAAAAAGAAGATTACATCACATTTAGAGGAAACAGCCGATTGTGCAGCAATTGTTTCACCATCGCAGTACTAGATACTTTAAATATCCAAACAGCATGTGACATGATACCTGGATACAACTCAAATTTGCTTAATATCAAATATTAAGCAAATTTAAAACCATCAAGTTAGAAAATAATTTAAATCGGGTTATTAAATGTAGATTTATACCCCAACCAAAATTCACATTTTGAGGATGTAAATAATAAAACTCTGCTTCTCTATTTTCAGAGCTTCTGATTTCCACCTGAAGCAAGTCATTCCTGCTCTGTTTGCCCACTGCCCATTACTTACAGGGTGTACATTTGAGATTGAGGGGCTCTTCAAGAATTTATTTGAATATCCATGGTACCTTGATTGAGGTTATCCCTCCTGCACTTATTCCAAAAACAGAATGCCCACAGTTACCAGTGGGCCAAGACAATGTGCCACGTTTGTCACCACCCAAGTAAATAAGATGGGTAGCTCACAAGCAGGTGTGTTTGTGTCAAAGGTACCCCCTAGTCTGAATGAAATAGGTAACAAAAATTACTCACAGAAGAATGCCTTTCTTAACCTGTGTAAAATTTTGACATTATAGTCATCCACAGCATCAACTTTGCCCTTTAAATAGTCACCTTTGCCTTCAATTGTTTACTGTCTCTCTTCCTCACTCGACTATATGCTCCTTGAGGGCAGCGGCTGTTACTATCAGGCTCCTCATGATATGGTACAGTGCTAAGTATACAGCAAGTCTCCCAATAGCCAACTCCACTGAGCAGCAAGAGCTGTCTTTTTAAACTGGAAATAAGATCATGTTACCTACTTAAAATCATACTTGTGCTCCCATTCATCCCAGGGTGAAGACCATTGTCCTGATCGTGGCCTACTGCACCATCTACTGGCTCTTTCCAATAATGCTAATTATCTTATGACACTCTCCCACACCCTCTTTTTATTCCAGCCACCTATCCATTTTTATACTCATTGAACATGTTCAATAATAAACAGCCTTAAAGTTTTTTTTTTCATTCAGCCATTCACTCATTCCTTCATTCATTCCTTTATTTGTTTGCCACTTACTAAAGTCATCTACCACGTACCATGACATTTTCTATGTTCTGGAGATACACCAGCGAAAAAAATAAACACCACTGATCATATGGAATTTACATTCCCATTGGGAGACAACAAACAAGCAAAATACATAGAATGTCGATAATAATAAGTGTCCTAAAGAAAACAAAGAAAAGCCACTGGTGGGGAGGGAAGGTTTGCTATTTTAAATAGGGTCATCAGTTAAAGTTTCATGGAAAAGGCAACATTTGAGCAAGAAAAAAAGTAAGAAGCAAGGCATAATAATATCTAAGGGTAAGAGCATTCAGACAGAAAGGAACAGCAGGTGCAGGGGACTGGGGCAGGGTTGAGCTAAGAGCATTTGAAGAAAACCAAACAGGCTACTCTAACTGGAATGGTCAAGAAAGAAAAGAGGTGAGCTCTAAGAGTCAGGCAAGAAGCACATCAAGTGAGGCCTTGGGAACCAGTGTGAGGCCTTTTGCTTTTATTCTGAAGGAGACAGGGATTCATTACGGTTCTGGGCAAAAGAGCGACATGATCTGACTTTAATTTTTAAATGATTACTCTGGCCACTGTGCAGAAAAATTGACCATTAATTGGTAGAACAAAGGTAAGAGAAGGGGAAAGACAGCATGAGAAAACAGAGTGACCAGTTAAAGAGCTATTGAAATAACCCAGGTAAAAGATAATTGCAAGTTGGACATGGGTGGTGGCAGTGGGGGCAGTTGAAGCAGCCAGATTTGGGATATATTTTGAAGTTACAGATGGCTAGATTTTTTAATAGCTAGCGTGTAGGGAGGAAC
GACAGCAGAAAAAAAACAAATAAAATGGTCACAATAAAAAATAAATTAAGCTAAAACTATAGGATGCTTTATTTACCAAAAGCATGCACATGAGAAAGATTAATAGTTAATTCAATAAAAAAGAAGCCGAGTATTAAATAACAATGTTAAGTTTGTCTCAATTTCTGTGATAGAAATGTTTTTGAAAACAATGATGTATGATCCCTTTTGTTTAGAAAATTGGCTAAGTTTAAATGCACTTTGGTACAACAAGGTACACTACAATAAACATGTGAATAAAATAAAAATGTTGTATAACATAAAAATCCATCCACTTAATGTATTTCTTTTTAAGGTATAATTCTACAGAAGAATTGTTTTAAAACATAAAAATCTAACTATTTAATAAATATATTTCTTTCATAAGGCACAGTTCTACAAAATAGAGTCAACCCTCCTTCATCCAATTATAAACCAGAGAGTTCAATTAATTGAATTTCTTGGGCATATTCTACTTCTATAAGATGTACTCAATGTAATTAGTAGAGTTATGTAATTGCAGTTTTTTGCCAATAAAAGTAAGGGCAAAAACCACAATTACTTTTGCACCAACCTAATATATCACAGAATTAACACAGATTTAGTCTTTTTTATTTGCCATAAATCTGTGGCATAATAATAAATGTTCAAAAGGTGACATGAATACAAAATACCTTCATGAGCAAAACTATATTAGTCCCCAAACTCTGCCTCCTTCTATAATAAAAAGCCTGAGAATAAGAATGATTAATCAGTTTGTACCAGAGTGAGTCTAGGCCAGGAACCCAGCTACCATCTTGTTTCTTTTCTCACCTATTACACTGTCTTATCTGGCATGAGTGATTCCTGAATGGCTATGAAATATAAAATAATGTATGATATCCAGAAATAATGTATGAATTTCCTTCATATATAAGTCATCTAATTTAGGTTGAAAAATGAGACCTCTTCATTTTATAAAATTATTTGCTGAGACATTTTTCTATACAGCCTATTTTCTAGGTATATTTATGTTTATGTATGATGCAACACTGGAAAGAAAATTCATTAATTTTTTTCAAAAATACATACACATATATAAAATATATATAATATGTATATAATACATATACATATTTCAAATATGTATATGTATTATAAAAATATGTATTATACATTACTTGATACTTTGCTTTTAATATGCTTGACATTTTCATTTTTTCACTTACAATAAATAATAAACACAAGTTCATGGTTTTTTAACTTGTCTTTTTAATTTTTGCCATATGCTATTTAATCACGTAAAACACTCTTCTCCTTAAATGGTAGAAGAGGTCAGAGATCTGTCTGATCTTAACAAATGGTTTCAACACTAAGCCTTAGTTTATTTATCTGTAAGATGGCTATAACAATAGTGTTTACCACATGTAAGTAGAGTTGCTGTGCAGATTAAATAAGATAAAATAGGTAGCTAATATATCTAAAACACTTGGCACCATACATGAAACATATTATATACTAGTAACTGTTGTTTTATAGTTATAAATTAATTTAGCTGTAATCAAAACCATGTAATTTTAAGATATGAAGCAATGAAGTATGATTTTTTTAAATGGCCTACTTAAAACAATGTATTTCTCTAGTAAAAGGAGACTGGCTATGGTTTAAGTCAAATTGATAAAGTGGCCTTTTAGATATTAAAAAAAAATGATTCACAGTAAAATTTTTAAATGATTATATAACCAATATATTTTACATGGCGTAAGATATGTAAAATTGAAATTTAATGAAATATACCACAAATACATGTGCTATACAAAACAAGGTAAAATCCCCTGTACAACAAAAATAAATCCAATTAAGAACATTAAGTACCAGTGAGAGAGTACACACACAATGAATTTAGTGAAATTCTTAAAAATTAATGTTAAACAGCAACAATAGAAAACATTTCTATATTGTATGTACCTACCTGGAGTAGGCAAACAATCTGCTATCCCAAAGATCATGAGTCCCTCTAGGTCCAGAATGAAAATAACAGGAATCTGTCCCAACATATTCAATCCATCTGCTGAATTTTTTGAAGCATGGCTGTGTACCACATCTAAGAGGACTATGATACCCATGGAATGAGCTGTGTCTACCAGTTCTTGTAGCTCTTCAGGTGTTCCATAACGGCTAACAATGAAGAACACAGCAAAAAGAAGATTACATCACATTTAGAGGAAACAGCCGATTGTGCAGCAATTGTTTCACCATCGCAGTACTAGATACTTTAAATATCCAAACAGCATGTGACATGATACCTGGATACAACTCAAATTTGCTTAATATCAAATATTAAGCAAATTTAAAACCATCAAGTTAGAAAATAATTTAAATCGGGTTATTAAATGTAGATTTATACCCCAACCAAAATTCACATTTTGAGGATGTAAATAATAAAACTCTGCTTCTCTATTTTCAGAGCTTCTGATTTCCACCTGAAGCAAGTCATTCCTGCTCTGTTTGCCCACTGCCCATTACTTACAGGGTGTACATTTGAGATTGAGGGGCTCTTCAAGAATTTATTTGAATATCCATGGTACCTTGATTGAGGTTATCCCTCCTGCACTTATTCCAAAAACAGAATGCCCACAGTTACCAGTGGGCCAAGACAATGTGCCACGTTTGTCACCACCCAAGTAAATAAGATGGGTAGCTCACAAGCAGGTGTGTTTGTGTCAAAGGTACCCCCTAGTCTGAATGAAATAGGTAACAAAAATTACTCACAGAAGAATGCCTTTCTTAACCTGTGTAAAATTTTGACATTATAGTCATCCACAGCATCAACTTTGCCCTTTAAATAGTCACCTTTGCCTTCAATTGTTTACTGTCTCTCTTCCTCACTCGACTATATGCTCCTTGAGGGCAGCGGCTGTTACTATCAGGCTCCTCATGATATGGTACAGTGCTAAGTATACAGCAAGTCTCCCAATAGCCAACTCCACTGAGCAGCAAGAGCTGTCTTTTTAAACTGGAAATAAGATCATGTTACCTACTTAAAATCATACTTGTGCTCCCATTCATCCCAGGGTGAAGACCATTGTCCTGATCGTGGCCTACTGCACCATCTACTGGCTCTTTCCAATAATGCTAATTATCTTATGACACTCTCCCACACCCTCTTTTTATTCCAGCCACCTATCCATTTTTATACTCATTGAACATGTTCAATAATAAACAGCCTTAAAGTTTTTTTTTTCATTCAGCCATTCACTCATTCCTTCATTCATTCCTTTATTTGTTTGCCACTTACTAAAGTCATCTACCACGTACCATGACATTTTCTATGTTCTGGAGATACACCAGCGAAAAAAATAAACACCACTGATCATATGGAATTTACATTCCCATTGGGAGACAACAAACAAGCAAAATACATAGAATGTCGATAATAATAAGTGTCCTAAAGAAAACAAAGAAAAGCCACTGGTGGGGAGGGAAGGTTTGCTATTTTAAATAGGGTCATCAGTTAAAGTTTCATGGAAAAGGCAACATTTGAGCAAGAAAAAAAGTAAGAAGCAAGGCATAATAATATCTAAGGGTAAGAGCATTCAGACAGAAAGGAACAGCAGGTGCAGGGGACTGGGGCAGGGTTGAGCTAAGAGCATTTGAAGAAAACCAAACAGGCTACTCTAACTGGAATGGTCAAGAAAGAAAAGAGGTGAGCTCTAAGAGTCAGGCAAGAAGCACATCAAGTGAGGCCTTGGGAACCAGTGTGAGGCCTTTTGCTTTTATTCTGAAGGAGACAGGGATTCATTACGGTTCTGGGCAAAAGAGCGACATGATCTGACTTTAATTTTTAAATGATTACTCTGGCCACTGTGCAGAAAAATTGACCATTAATTGGTAGAACAAAGGTAAGAGAAGGGGAAAGACAGCATGAGAAAACAGAGTGACCAGTTAAAGAGCTATTGAAATAACCCAGGTAAAAGATAATTGCAAGTTGGACATGGGTGGTGGCAGTGGGGGCAGTTGAAGCAGCCAGATTTGGGATATATTTTGAAGTTACAGATGGCTAGATTTTTTAATAGCTAGCGTGTAGGGAGGAACNNNN
pathogenic
71,409
Clinical classification of chromosome 3, position 81649781, gene GBE1 (1,4-alpha-glucan branching enzyme 1): benign or pathogenic? Disease(s) if pathogenic?
benign
ACAACTATATTTGTAAATACACTTATAAACAAAGATATTAGTTTCATTCTTCTTGGCTGATACCTTGTATCAAGCACAAATTTATAGTTTTATTCTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAGCCAAAATTTGGACTCTCTAGCAGAAGCAGCATAATTACATGTGCTTTATCCTCCTGCCTAGTCATTGAAGCAGGTGTTAAATATACTGTTGTATTATTTTAAATATCATTACCTATAAAAACAACAGATTTAAAGCACACTGAATCAATAATTCAGCAATATATTCTTTACTCTCCTGTTTGTTATGAAGACAGGATCTGTGCCATTACAGTTCAATACATGAACATCTAGCAAAATGTGTCTCACATAGATATTCTATAAATGTTTGTTAAATAAATCATCCAGGCAGGGGCTATATAAAATAACTGATACAAAATGAGTTCCGGTCACATTACAGATAAAATATTTTTTTCCTTAACAGACTAAAATGAACAGGCTATAGTCAATAATCACTTAAATTGATAAAGGTTTCCTCCAGTAAAAAAGTAATTATGCTTACATATTTATCTATAATTTTGGAAGTCATCAGTTCACATTACTTAAAATTTAAATTGGAATAATATCTTTAATTCTTATGCTCTATCTTATTCCATTTCTCCTTTCTATGCTATCACTATTACAGGGCAATTTGAGAAGCCTAAAATAAAATGCCTTTCTATTACATATTTAATCTCCTAACACAAAAAAGAGACACTTGTAATTAGCTTTTCTAATAAGAGAACAGACTCATTAAAATTTTATCTGAATAAAAATCACAGTTATTACTTACCAAGGCCTTTGATTCTTGGTAGTACATTGCATGTAAAATGTTTATAAGAAGCTACTTTTCCTTCATGGGAAGAAATTCCCACATGAGATTCATAAATTCTTAGACTCCGTGGCTTCTTTGGTCTGGAATGCTTAAACTACAGAATATAAAATTATGTATAGAGTTAAGCCAGGAATTCTGGTATGACACTACCTGATCAAGTATATTTTTAAAAAGTGGTGAATATACTCAAACACTTGGAACTATTCTCACATATAAAAGGCACCAGCTACACTCACTAAATTTTCTCTCAGGAAAAAGTCCTTATGGTCCTGCTAGTGGACCTATTTTAAAAGATAAATCATGTAATAGCTTATGCCTTATCATTGAGTAAATTTTTTTTTAACTTAGGCCTTAGAGAAAATGTAAGAGCCATGAAATACATATGTAATTATCTAATGCAAAGTATATATCAACAAACTCCAATGATTTAAAAGACAGAAAGTGAGTTCAAACAATCACAGAACACTTGTCACTAATATGGCGGTAAAAATTACCCTAGTTAATACATTCATGAGATGGTCTTCCCCATTCCGTGTTTCTAAGGACATTGATCCTAATTCAAACCCTGAGAAATACTGCACTAAAGAGTCTCTGATCAATCAGAAATTGTAGTTTAAAAAAAAAACCAGTATCCCTTATAGATTAGTATATAGCAATTTAGTATTCTGTTTTCTTTAACCTCAAAAACATAGACAACACAAAAACTAACTTCTATATGTTACTGGCTACAGAAGACAGACTATGATACTCATACAGTATAAAAGGAATACTATGATGTAAAATACGCAACTGTCAGTGAAGATAAGCATTGAACATTACTATAAAAGTTATAAAAGTAAAAATTAACTTTCCTAGAAATATTGGAACAATAATTTATTTAAAGATTTGTTGTTCTCACCTCATATGAGTGTTCTGGATCCCAGTGTATCCAATCATAATTCACATTATCACCTTCACGAACCACATACTTTGCCCACGGTGAAATACGATACAAGATCTCTCCGCTTTTACTAGTAATAACTACCTAAAAAGAGAATGACATGTTATTGCTTTAAAATACATCCAGAACTCTGATAATACATAATGGTTTAGGAGCACTGCTACAAGTAGGAAAGGAGGACTGATCTTAAGAATCTAGACCACCATACAGATGTGTGACCTTCAGGAACATAATTCTATCAATGTTGGTTTTCTCATCTGCTGTTACTATATCATCCTTAAAGTAACTTCCAGCTTGAACATTTTATGGCTTTCTGGCAATTTCCACCACTGCAAACCAGCCATAAGAGTGCTTACTTAAACGAACAGTAGATACTAAAAAGACAAGAATATTATTTGGAAGCTTCTGTCAATTAATCAATCAATGGGAGAAAATCATCCTACTCCATTAAAAAAAGCAATTAGTGAGTTATATAACCATCTCTTTCATTTGCTTTCTATAGCAACTAATGAAAACATGTTCAGGAAGCTAAAGAAGAAAAACAGGTTTGATTAACACAATGTGCACGCACAGACACATACATTTTCCACACCTTCTCAACTTCTTTTACCTCCTATTTGTTGTATTCTTTACCATATAAAACCAAACATTATCTCCTTTAATCATCCGTTCACATATTTGCCAGCAATATGACTATTTTTGATAATAAAAAATAACAAATTTATTTTTTTAACTGAATCTACCATTAAGACTTAGAACTGAATAAATGATTTTGAATTTATCCAGCCATATAAATGGAACTTCCAAATGATTGAAATGATAGCTTTTTATTTATTTTATTTTTTTGAGACAGGGACTCACTCTGTCACCCAGGTGGAGCACAGTGGTGCGATCGCAGCTCACTGCAGCCTCAACCTCACAGGCTCAGGTGATCCTCCCAATTCAGCCTTTCGAGGAGCTGGGACTACAGGCATGTACCACCATGCTCAGCTAATTTTGGGGGGGTCTGGGGTTTTTTTGTAGAAATGGGGTTTCTCTGTGTTGCCCAGGCTAGTCTTGAGCTCCTGGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAGAGTGCTGAGATTACAGGCGTGAGCCAATGCAGCAGGCTGAAATTGTAGCTTTTACACAAAGTTGCCTTTTTTACTAAACTTTCTAAAAGGAGGTAGAATACAATTTTAAAAATCCAGATTAAAAGCTATATTATGTCCTCATCATTGAGGAGAACGTATTCTTCAGTCTCCTCTAATAGAGAAAGGTTAAGTACTCACAATTCTTAGTAATTAAATATTTGTATAATGCCTTATAGTTTATAAAGACTTTTACATTCTTATCTCACTTGATTCCAGAAAATCTTTGTGACCTAAATATTAAGTGAGATTACATAAGTTGCCAGAAGTCCCAAAATAACCAAGCGGCAGAGCCAAAAGCTCAACGCAGAGCTTCTAATACTCACTTCTCTTCTCTGAACAGGCTTCCACAGCACTTCCTTCAGATGCCAAAAAATAATAAATTATGGTTTATGACGGAGAGGCCAAGTAAGTGGTGAAAGGAATGTCTAAGTTACATGAATACAATTATTTCTCCTTCATTATGCCTCCCACCTATTAAAGCTAATCATCGCCAGGTGTTGCTATTATTCAAGCCATTATCACAAAACATGAATCAATAAGACCAATCTATTTCAACTATTTTAAGCTTAAAAAAAAAACTCCCTTAAGCTACATGAATTTGTAGCATAATATGCTACAGTAATATGTTTAAGAAAGGGCCTTTTGCTCACTCATCAACCCAGAACAAGGTATGAGGAAACAAAATACTATAAACCAGTTTTCCGTGACTACCACTTTGGCTAATCTATCCACCTATGCTTTCTCTGTTTTGTAAACGGCTCTATAATACCTCCAAAGGCCCATCATAAACTAATAATAATTTCTAAAGGTGTCTGTTGGCAGAGAAAATAC
ACAACTATATTTGTAAATACACTTATAAACAAAGATATTAGTTTCATTCTTCTTGGCTGATACCTTGTATCAAGCACAAATTTATAGTTTTATTCTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAGCCAAAATTTGGACTCTCTAGCAGAAGCAGCATAATTACATGTGCTTTATCCTCCTGCCTAGTCATTGAAGCAGGTGTTAAATATACTGTTGTATTATTTTAAATATCATTACCTATAAAAACAACAGATTTAAAGCACACTGAATCAATAATTCAGCAATATATTCTTTACTCTCCTGTTTGTTATGAAGACAGGATCTGTGCCATTACAGTTCAATACATGAACATCTAGCAAAATGTGTCTCACATAGATATTCTATAAATGTTTGTTAAATAAATCATCCAGGCAGGGGCTATATAAAATAACTGATACAAAATGAGTTCCGGTCACATTACAGATAAAATATTTTTTTCCTTAACAGACTAAAATGAACAGGCTATAGTCAATAATCACTTAAATTGATAAAGGTTTCCTCCAGTAAAAAAGTAATTATGCTTACATATTTATCTATAATTTTGGAAGTCATCAGTTCACATTACTTAAAATTTAAATTGGAATAATATCTTTAATTCTTATGCTCTATCTTATTCCATTTCTCCTTTCTATGCTATCACTATTACAGGGCAATTTGAGAAGCCTAAAATAAAATGCCTTTCTATTACATATTTAATCTCCTAACACAAAAAAGAGACACTTGTAATTAGCTTTTCTAATAAGAGAACAGACTCATTAAAATTTTATCTGAATAAAAATCACAGTTATTACTTACCAAGGCCTTTGATTCTTGGTAGTACATTGCATGTAAAATGTTTATAAGAAGCTACTTTTCCTTCATGGGAAGAAATTCCCACATGAGATTCATAAATTCTTAGACTCCGTGGCTTCTTTGGTCTGGAATGCTTAAACTACAGAATATAAAATTATGTATAGAGTTAAGCCAGGAATTCTGGTATGACACTACCTGATCAAGTATATTTTTAAAAAGTGGTGAATATACTCAAACACTTGGAACTATTCTCACATATAAAAGGCACCAGCTACACTCACTAAATTTTCTCTCAGGAAAAAGTCCTTATGGTCCTGCTAGTGGACCTATTTTAAAAGATAAATCATGTAATAGCTTATGCCTTATCATTGAGTAAATTTTTTTTTAACTTAGGCCTTAGAGAAAATGTAAGAGCCATGAAATACATATGTAATTATCTAATGCAAAGTATATATCAACAAACTCCAATGATTTAAAAGACAGAAAGTGAGTTCAAACAATCACAGAACACTTGTCACTAATATGGCGGTAAAAATTACCCTAGTTAATACATTCATGAGATGGTCTTCCCCATTCCGTGTTTCTAAGGACATTGATCCTAATTCAAACCCTGAGAAATACTGCACTAAAGAGTCTCTGATCAATCAGAAATTGTAGTTTAAAAAAAAAACCAGTATCCCTTATAGATTAGTATATAGCAATTTAGTATTCTGTTTTCTTTAACCTCAAAAACATAGACAACACAAAAACTAACTTCTATATGTTACTGGCTACAGAAGACAGACTATGATACTCATACAGTATAAAAGGAATACTATGATGTAAAATACGCAACTGTCAGTGAAGATAAGCATTGAACATTACTATAAAAGTTATAAAAGTAAAAATTAACTTTCCTAGAAATATTGGAACAATAATTTATTTAAAGATTGTTGTTCTCACCTCATATGAGTGTTCTGGATCCCAGTGTATCCAATCATAATTCACATTATCACCTTCACGAACCACATACTTTGCCCACGGTGAAATACGATACAAGATCTCTCCGCTTTTACTAGTAATAACTACCTAAAAAGAGAATGACATGTTATTGCTTTAAAATACATCCAGAACTCTGATAATACATAATGGTTTAGGAGCACTGCTACAAGTAGGAAAGGAGGACTGATCTTAAGAATCTAGACCACCATACAGATGTGTGACCTTCAGGAACATAATTCTATCAATGTTGGTTTTCTCATCTGCTGTTACTATATCATCCTTAAAGTAACTTCCAGCTTGAACATTTTATGGCTTTCTGGCAATTTCCACCACTGCAAACCAGCCATAAGAGTGCTTACTTAAACGAACAGTAGATACTAAAAAGACAAGAATATTATTTGGAAGCTTCTGTCAATTAATCAATCAATGGGAGAAAATCATCCTACTCCATTAAAAAAAGCAATTAGTGAGTTATATAACCATCTCTTTCATTTGCTTTCTATAGCAACTAATGAAAACATGTTCAGGAAGCTAAAGAAGAAAAACAGGTTTGATTAACACAATGTGCACGCACAGACACATACATTTTCCACACCTTCTCAACTTCTTTTACCTCCTATTTGTTGTATTCTTTACCATATAAAACCAAACATTATCTCCTTTAATCATCCGTTCACATATTTGCCAGCAATATGACTATTTTTGATAATAAAAAATAACAAATTTATTTTTTTAACTGAATCTACCATTAAGACTTAGAACTGAATAAATGATTTTGAATTTATCCAGCCATATAAATGGAACTTCCAAATGATTGAAATGATAGCTTTTTATTTATTTTATTTTTTTGAGACAGGGACTCACTCTGTCACCCAGGTGGAGCACAGTGGTGCGATCGCAGCTCACTGCAGCCTCAACCTCACAGGCTCAGGTGATCCTCCCAATTCAGCCTTTCGAGGAGCTGGGACTACAGGCATGTACCACCATGCTCAGCTAATTTTGGGGGGGTCTGGGGTTTTTTTGTAGAAATGGGGTTTCTCTGTGTTGCCCAGGCTAGTCTTGAGCTCCTGGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAGAGTGCTGAGATTACAGGCGTGAGCCAATGCAGCAGGCTGAAATTGTAGCTTTTACACAAAGTTGCCTTTTTTACTAAACTTTCTAAAAGGAGGTAGAATACAATTTTAAAAATCCAGATTAAAAGCTATATTATGTCCTCATCATTGAGGAGAACGTATTCTTCAGTCTCCTCTAATAGAGAAAGGTTAAGTACTCACAATTCTTAGTAATTAAATATTTGTATAATGCCTTATAGTTTATAAAGACTTTTACATTCTTATCTCACTTGATTCCAGAAAATCTTTGTGACCTAAATATTAAGTGAGATTACATAAGTTGCCAGAAGTCCCAAAATAACCAAGCGGCAGAGCCAAAAGCTCAACGCAGAGCTTCTAATACTCACTTCTCTTCTCTGAACAGGCTTCCACAGCACTTCCTTCAGATGCCAAAAAATAATAAATTATGGTTTATGACGGAGAGGCCAAGTAAGTGGTGAAAGGAATGTCTAAGTTACATGAATACAATTATTTCTCCTTCATTATGCCTCCCACCTATTAAAGCTAATCATCGCCAGGTGTTGCTATTATTCAAGCCATTATCACAAAACATGAATCAATAAGACCAATCTATTTCAACTATTTTAAGCTTAAAAAAAAAACTCCCTTAAGCTACATGAATTTGTAGCATAATATGCTACAGTAATATGTTTAAGAAAGGGCCTTTTGCTCACTCATCAACCCAGAACAAGGTATGAGGAAACAAAATACTATAAACCAGTTTTCCGTGACTACCACTTTGGCTAATCTATCCACCTATGCTTTCTCTGTTTTGTAAACGGCTCTATAATACCTCCAAAGGCCCATCATAAACTAATAATAATTTCTAAAGGTGTCTGTTGGCAGAGAAAATACN
benign
71,426
Assess the variant on chromosome 3, position 81649845, impacting GBE1 (1,4-alpha-glucan branching enzyme 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['GBE1-related_disorder', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
TTGTATCAAGCACAAATTTATAGTTTTATTCTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAGCCAAAATTTGGACTCTCTAGCAGAAGCAGCATAATTACATGTGCTTTATCCTCCTGCCTAGTCATTGAAGCAGGTGTTAAATATACTGTTGTATTATTTTAAATATCATTACCTATAAAAACAACAGATTTAAAGCACACTGAATCAATAATTCAGCAATATATTCTTTACTCTCCTGTTTGTTATGAAGACAGGATCTGTGCCATTACAGTTCAATACATGAACATCTAGCAAAATGTGTCTCACATAGATATTCTATAAATGTTTGTTAAATAAATCATCCAGGCAGGGGCTATATAAAATAACTGATACAAAATGAGTTCCGGTCACATTACAGATAAAATATTTTTTTCCTTAACAGACTAAAATGAACAGGCTATAGTCAATAATCACTTAAATTGATAAAGGTTTCCTCCAGTAAAAAAGTAATTATGCTTACATATTTATCTATAATTTTGGAAGTCATCAGTTCACATTACTTAAAATTTAAATTGGAATAATATCTTTAATTCTTATGCTCTATCTTATTCCATTTCTCCTTTCTATGCTATCACTATTACAGGGCAATTTGAGAAGCCTAAAATAAAATGCCTTTCTATTACATATTTAATCTCCTAACACAAAAAAGAGACACTTGTAATTAGCTTTTCTAATAAGAGAACAGACTCATTAAAATTTTATCTGAATAAAAATCACAGTTATTACTTACCAAGGCCTTTGATTCTTGGTAGTACATTGCATGTAAAATGTTTATAAGAAGCTACTTTTCCTTCATGGGAAGAAATTCCCACATGAGATTCATAAATTCTTAGACTCCGTGGCTTCTTTGGTCTGGAATGCTTAAACTACAGAATATAAAATTATGTATAGAGTTAAGCCAGGAATTCTGGTATGACACTACCTGATCAAGTATATTTTTAAAAAGTGGTGAATATACTCAAACACTTGGAACTATTCTCACATATAAAAGGCACCAGCTACACTCACTAAATTTTCTCTCAGGAAAAAGTCCTTATGGTCCTGCTAGTGGACCTATTTTAAAAGATAAATCATGTAATAGCTTATGCCTTATCATTGAGTAAATTTTTTTTTAACTTAGGCCTTAGAGAAAATGTAAGAGCCATGAAATACATATGTAATTATCTAATGCAAAGTATATATCAACAAACTCCAATGATTTAAAAGACAGAAAGTGAGTTCAAACAATCACAGAACACTTGTCACTAATATGGCGGTAAAAATTACCCTAGTTAATACATTCATGAGATGGTCTTCCCCATTCCGTGTTTCTAAGGACATTGATCCTAATTCAAACCCTGAGAAATACTGCACTAAAGAGTCTCTGATCAATCAGAAATTGTAGTTTAAAAAAAAAACCAGTATCCCTTATAGATTAGTATATAGCAATTTAGTATTCTGTTTTCTTTAACCTCAAAAACATAGACAACACAAAAACTAACTTCTATATGTTACTGGCTACAGAAGACAGACTATGATACTCATACAGTATAAAAGGAATACTATGATGTAAAATACGCAACTGTCAGTGAAGATAAGCATTGAACATTACTATAAAAGTTATAAAAGTAAAAATTAACTTTCCTAGAAATATTGGAACAATAATTTATTTAAAGATTTGTTGTTCTCACCTCATATGAGTGTTCTGGATCCCAGTGTATCCAATCATAATTCACATTATCACCTTCACGAACCACATACTTTGCCCACGGTGAAATACGATACAAGATCTCTCCGCTTTTACTAGTAATAACTACCTAAAAAGAGAATGACATGTTATTGCTTTAAAATACATCCAGAACTCTGATAATACATAATGGTTTAGGAGCACTGCTACAAGTAGGAAAGGAGGACTGATCTTAAGAATCTAGACCACCATACAGATGTGTGACCTTCAGGAACATAATTCTATCAATGTTGGTTTTCTCATCTGCTGTTACTATATCATCCTTAAAGTAACTTCCAGCTTGAACATTTTATGGCTTTCTGGCAATTTCCACCACTGCAAACCAGCCATAAGAGTGCTTACTTAAACGAACAGTAGATACTAAAAAGACAAGAATATTATTTGGAAGCTTCTGTCAATTAATCAATCAATGGGAGAAAATCATCCTACTCCATTAAAAAAAGCAATTAGTGAGTTATATAACCATCTCTTTCATTTGCTTTCTATAGCAACTAATGAAAACATGTTCAGGAAGCTAAAGAAGAAAAACAGGTTTGATTAACACAATGTGCACGCACAGACACATACATTTTCCACACCTTCTCAACTTCTTTTACCTCCTATTTGTTGTATTCTTTACCATATAAAACCAAACATTATCTCCTTTAATCATCCGTTCACATATTTGCCAGCAATATGACTATTTTTGATAATAAAAAATAACAAATTTATTTTTTTAACTGAATCTACCATTAAGACTTAGAACTGAATAAATGATTTTGAATTTATCCAGCCATATAAATGGAACTTCCAAATGATTGAAATGATAGCTTTTTATTTATTTTATTTTTTTGAGACAGGGACTCACTCTGTCACCCAGGTGGAGCACAGTGGTGCGATCGCAGCTCACTGCAGCCTCAACCTCACAGGCTCAGGTGATCCTCCCAATTCAGCCTTTCGAGGAGCTGGGACTACAGGCATGTACCACCATGCTCAGCTAATTTTGGGGGGGTCTGGGGTTTTTTTGTAGAAATGGGGTTTCTCTGTGTTGCCCAGGCTAGTCTTGAGCTCCTGGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAGAGTGCTGAGATTACAGGCGTGAGCCAATGCAGCAGGCTGAAATTGTAGCTTTTACACAAAGTTGCCTTTTTTACTAAACTTTCTAAAAGGAGGTAGAATACAATTTTAAAAATCCAGATTAAAAGCTATATTATGTCCTCATCATTGAGGAGAACGTATTCTTCAGTCTCCTCTAATAGAGAAAGGTTAAGTACTCACAATTCTTAGTAATTAAATATTTGTATAATGCCTTATAGTTTATAAAGACTTTTACATTCTTATCTCACTTGATTCCAGAAAATCTTTGTGACCTAAATATTAAGTGAGATTACATAAGTTGCCAGAAGTCCCAAAATAACCAAGCGGCAGAGCCAAAAGCTCAACGCAGAGCTTCTAATACTCACTTCTCTTCTCTGAACAGGCTTCCACAGCACTTCCTTCAGATGCCAAAAAATAATAAATTATGGTTTATGACGGAGAGGCCAAGTAAGTGGTGAAAGGAATGTCTAAGTTACATGAATACAATTATTTCTCCTTCATTATGCCTCCCACCTATTAAAGCTAATCATCGCCAGGTGTTGCTATTATTCAAGCCATTATCACAAAACATGAATCAATAAGACCAATCTATTTCAACTATTTTAAGCTTAAAAAAAAAACTCCCTTAAGCTACATGAATTTGTAGCATAATATGCTACAGTAATATGTTTAAGAAAGGGCCTTTTGCTCACTCATCAACCCAGAACAAGGTATGAGGAAACAAAATACTATAAACCAGTTTTCCGTGACTACCACTTTGGCTAATCTATCCACCTATGCTTTCTCTGTTTTGTAAACGGCTCTATAATACCTCCAAAGGCCCATCATAAACTAATAATAATTTCTAAAGGTGTCTGTTGGCAGAGAAAATACTTGCAATTTTAAGACATGAAGAATCTACTTCATGCTGAATTTAACCCCCACATCCTTTGGAACA
TTGTATCAAGCACAAATTTATAGTTTTATTCTTAATTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAGCCAAAATTTGGACTCTCTAGCAGAAGCAGCATAATTACATGTGCTTTATCCTCCTGCCTAGTCATTGAAGCAGGTGTTAAATATACTGTTGTATTATTTTAAATATCATTACCTATAAAAACAACAGATTTAAAGCACACTGAATCAATAATTCAGCAATATATTCTTTACTCTCCTGTTTGTTATGAAGACAGGATCTGTGCCATTACAGTTCAATACATGAACATCTAGCAAAATGTGTCTCACATAGATATTCTATAAATGTTTGTTAAATAAATCATCCAGGCAGGGGCTATATAAAATAACTGATACAAAATGAGTTCCGGTCACATTACAGATAAAATATTTTTTTCCTTAACAGACTAAAATGAACAGGCTATAGTCAATAATCACTTAAATTGATAAAGGTTTCCTCCAGTAAAAAAGTAATTATGCTTACATATTTATCTATAATTTTGGAAGTCATCAGTTCACATTACTTAAAATTTAAATTGGAATAATATCTTTAATTCTTATGCTCTATCTTATTCCATTTCTCCTTTCTATGCTATCACTATTACAGGGCAATTTGAGAAGCCTAAAATAAAATGCCTTTCTATTACATATTTAATCTCCTAACACAAAAAAGAGACACTTGTAATTAGCTTTTCTAATAAGAGAACAGACTCATTAAAATTTTATCTGAATAAAAATCACAGTTATTACTTACCAAGGCCTTTGATTCTTGGTAGTACATTGCATGTAAAATGTTTATAAGAAGCTACTTTTCCTTCATGGGAAGAAATTCCCACATGAGATTCATAAATTCTTAGACTCCGTGGCTTCTTTGGTCTGGAATGCTTAAACTACAGAATATAAAATTATGTATAGAGTTAAGCCAGGAATTCTGGTATGACACTACCTGATCAAGTATATTTTTAAAAAGTGGTGAATATACTCAAACACTTGGAACTATTCTCACATATAAAAGGCACCAGCTACACTCACTAAATTTTCTCTCAGGAAAAAGTCCTTATGGTCCTGCTAGTGGACCTATTTTAAAAGATAAATCATGTAATAGCTTATGCCTTATCATTGAGTAAATTTTTTTTTAACTTAGGCCTTAGAGAAAATGTAAGAGCCATGAAATACATATGTAATTATCTAATGCAAAGTATATATCAACAAACTCCAATGATTTAAAAGACAGAAAGTGAGTTCAAACAATCACAGAACACTTGTCACTAATATGGCGGTAAAAATTACCCTAGTTAATACATTCATGAGATGGTCTTCCCCATTCCGTGTTTCTAAGGACATTGATCCTAATTCAAACCCTGAGAAATACTGCACTAAAGAGTCTCTGATCAATCAGAAATTGTAGTTTAAAAAAAAAACCAGTATCCCTTATAGATTAGTATATAGCAATTTAGTATTCTGTTTTCTTTAACCTCAAAAACATAGACAACACAAAAACTAACTTCTATATGTTACTGGCTACAGAAGACAGACTATGATACTCATACAGTATAAAAGGAATACTATGATGTAAAATACGCAACTGTCAGTGAAGATAAGCATTGAACATTACTATAAAAGTTATAAAAGTAAAAATTAACTTTCCTAGAAATATTGGAACAATAATTTATTTAAAGATTTGTTGTTCTCACCTCATATGAGTGTTCTGGATCCCAGTGTATCCAATCATAATTCACATTATACCTTCACGAACCACATACTTTGCCCACGGTGAAATACGATACAAGATCTCTCCGCTTTTACTAGTAATAACTACCTAAAAAGAGAATGACATGTTATTGCTTTAAAATACATCCAGAACTCTGATAATACATAATGGTTTAGGAGCACTGCTACAAGTAGGAAAGGAGGACTGATCTTAAGAATCTAGACCACCATACAGATGTGTGACCTTCAGGAACATAATTCTATCAATGTTGGTTTTCTCATCTGCTGTTACTATATCATCCTTAAAGTAACTTCCAGCTTGAACATTTTATGGCTTTCTGGCAATTTCCACCACTGCAAACCAGCCATAAGAGTGCTTACTTAAACGAACAGTAGATACTAAAAAGACAAGAATATTATTTGGAAGCTTCTGTCAATTAATCAATCAATGGGAGAAAATCATCCTACTCCATTAAAAAAAGCAATTAGTGAGTTATATAACCATCTCTTTCATTTGCTTTCTATAGCAACTAATGAAAACATGTTCAGGAAGCTAAAGAAGAAAAACAGGTTTGATTAACACAATGTGCACGCACAGACACATACATTTTCCACACCTTCTCAACTTCTTTTACCTCCTATTTGTTGTATTCTTTACCATATAAAACCAAACATTATCTCCTTTAATCATCCGTTCACATATTTGCCAGCAATATGACTATTTTTGATAATAAAAAATAACAAATTTATTTTTTTAACTGAATCTACCATTAAGACTTAGAACTGAATAAATGATTTTGAATTTATCCAGCCATATAAATGGAACTTCCAAATGATTGAAATGATAGCTTTTTATTTATTTTATTTTTTTGAGACAGGGACTCACTCTGTCACCCAGGTGGAGCACAGTGGTGCGATCGCAGCTCACTGCAGCCTCAACCTCACAGGCTCAGGTGATCCTCCCAATTCAGCCTTTCGAGGAGCTGGGACTACAGGCATGTACCACCATGCTCAGCTAATTTTGGGGGGGTCTGGGGTTTTTTTGTAGAAATGGGGTTTCTCTGTGTTGCCCAGGCTAGTCTTGAGCTCCTGGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAGAGTGCTGAGATTACAGGCGTGAGCCAATGCAGCAGGCTGAAATTGTAGCTTTTACACAAAGTTGCCTTTTTTACTAAACTTTCTAAAAGGAGGTAGAATACAATTTTAAAAATCCAGATTAAAAGCTATATTATGTCCTCATCATTGAGGAGAACGTATTCTTCAGTCTCCTCTAATAGAGAAAGGTTAAGTACTCACAATTCTTAGTAATTAAATATTTGTATAATGCCTTATAGTTTATAAAGACTTTTACATTCTTATCTCACTTGATTCCAGAAAATCTTTGTGACCTAAATATTAAGTGAGATTACATAAGTTGCCAGAAGTCCCAAAATAACCAAGCGGCAGAGCCAAAAGCTCAACGCAGAGCTTCTAATACTCACTTCTCTTCTCTGAACAGGCTTCCACAGCACTTCCTTCAGATGCCAAAAAATAATAAATTATGGTTTATGACGGAGAGGCCAAGTAAGTGGTGAAAGGAATGTCTAAGTTACATGAATACAATTATTTCTCCTTCATTATGCCTCCCACCTATTAAAGCTAATCATCGCCAGGTGTTGCTATTATTCAAGCCATTATCACAAAACATGAATCAATAAGACCAATCTATTTCAACTATTTTAAGCTTAAAAAAAAAACTCCCTTAAGCTACATGAATTTGTAGCATAATATGCTACAGTAATATGTTTAAGAAAGGGCCTTTTGCTCACTCATCAACCCAGAACAAGGTATGAGGAAACAAAATACTATAAACCAGTTTTCCGTGACTACCACTTTGGCTAATCTATCCACCTATGCTTTCTCTGTTTTGTAAACGGCTCTATAATACCTCCAAAGGCCCATCATAAACTAATAATAATTTCTAAAGGTGTCTGTTGGCAGAGAAAATACTTGCAATTTTAAGACATGAAGAATCTACTTCATGCTGAATTTAACCCCCACATCCTTTGGAACAN
pathogenic
71,427
Assess the variant on chromosome 3, position 81649880, impacting GBE1 (1,4-alpha-glucan branching enzyme 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Adult_polyglucosan_body_disease', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
TTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAGCCAAAATTTGGACTCTCTAGCAGAAGCAGCATAATTACATGTGCTTTATCCTCCTGCCTAGTCATTGAAGCAGGTGTTAAATATACTGTTGTATTATTTTAAATATCATTACCTATAAAAACAACAGATTTAAAGCACACTGAATCAATAATTCAGCAATATATTCTTTACTCTCCTGTTTGTTATGAAGACAGGATCTGTGCCATTACAGTTCAATACATGAACATCTAGCAAAATGTGTCTCACATAGATATTCTATAAATGTTTGTTAAATAAATCATCCAGGCAGGGGCTATATAAAATAACTGATACAAAATGAGTTCCGGTCACATTACAGATAAAATATTTTTTTCCTTAACAGACTAAAATGAACAGGCTATAGTCAATAATCACTTAAATTGATAAAGGTTTCCTCCAGTAAAAAAGTAATTATGCTTACATATTTATCTATAATTTTGGAAGTCATCAGTTCACATTACTTAAAATTTAAATTGGAATAATATCTTTAATTCTTATGCTCTATCTTATTCCATTTCTCCTTTCTATGCTATCACTATTACAGGGCAATTTGAGAAGCCTAAAATAAAATGCCTTTCTATTACATATTTAATCTCCTAACACAAAAAAGAGACACTTGTAATTAGCTTTTCTAATAAGAGAACAGACTCATTAAAATTTTATCTGAATAAAAATCACAGTTATTACTTACCAAGGCCTTTGATTCTTGGTAGTACATTGCATGTAAAATGTTTATAAGAAGCTACTTTTCCTTCATGGGAAGAAATTCCCACATGAGATTCATAAATTCTTAGACTCCGTGGCTTCTTTGGTCTGGAATGCTTAAACTACAGAATATAAAATTATGTATAGAGTTAAGCCAGGAATTCTGGTATGACACTACCTGATCAAGTATATTTTTAAAAAGTGGTGAATATACTCAAACACTTGGAACTATTCTCACATATAAAAGGCACCAGCTACACTCACTAAATTTTCTCTCAGGAAAAAGTCCTTATGGTCCTGCTAGTGGACCTATTTTAAAAGATAAATCATGTAATAGCTTATGCCTTATCATTGAGTAAATTTTTTTTTAACTTAGGCCTTAGAGAAAATGTAAGAGCCATGAAATACATATGTAATTATCTAATGCAAAGTATATATCAACAAACTCCAATGATTTAAAAGACAGAAAGTGAGTTCAAACAATCACAGAACACTTGTCACTAATATGGCGGTAAAAATTACCCTAGTTAATACATTCATGAGATGGTCTTCCCCATTCCGTGTTTCTAAGGACATTGATCCTAATTCAAACCCTGAGAAATACTGCACTAAAGAGTCTCTGATCAATCAGAAATTGTAGTTTAAAAAAAAAACCAGTATCCCTTATAGATTAGTATATAGCAATTTAGTATTCTGTTTTCTTTAACCTCAAAAACATAGACAACACAAAAACTAACTTCTATATGTTACTGGCTACAGAAGACAGACTATGATACTCATACAGTATAAAAGGAATACTATGATGTAAAATACGCAACTGTCAGTGAAGATAAGCATTGAACATTACTATAAAAGTTATAAAAGTAAAAATTAACTTTCCTAGAAATATTGGAACAATAATTTATTTAAAGATTTGTTGTTCTCACCTCATATGAGTGTTCTGGATCCCAGTGTATCCAATCATAATTCACATTATCACCTTCACGAACCACATACTTTGCCCACGGTGAAATACGATACAAGATCTCTCCGCTTTTACTAGTAATAACTACCTAAAAAGAGAATGACATGTTATTGCTTTAAAATACATCCAGAACTCTGATAATACATAATGGTTTAGGAGCACTGCTACAAGTAGGAAAGGAGGACTGATCTTAAGAATCTAGACCACCATACAGATGTGTGACCTTCAGGAACATAATTCTATCAATGTTGGTTTTCTCATCTGCTGTTACTATATCATCCTTAAAGTAACTTCCAGCTTGAACATTTTATGGCTTTCTGGCAATTTCCACCACTGCAAACCAGCCATAAGAGTGCTTACTTAAACGAACAGTAGATACTAAAAAGACAAGAATATTATTTGGAAGCTTCTGTCAATTAATCAATCAATGGGAGAAAATCATCCTACTCCATTAAAAAAAGCAATTAGTGAGTTATATAACCATCTCTTTCATTTGCTTTCTATAGCAACTAATGAAAACATGTTCAGGAAGCTAAAGAAGAAAAACAGGTTTGATTAACACAATGTGCACGCACAGACACATACATTTTCCACACCTTCTCAACTTCTTTTACCTCCTATTTGTTGTATTCTTTACCATATAAAACCAAACATTATCTCCTTTAATCATCCGTTCACATATTTGCCAGCAATATGACTATTTTTGATAATAAAAAATAACAAATTTATTTTTTTAACTGAATCTACCATTAAGACTTAGAACTGAATAAATGATTTTGAATTTATCCAGCCATATAAATGGAACTTCCAAATGATTGAAATGATAGCTTTTTATTTATTTTATTTTTTTGAGACAGGGACTCACTCTGTCACCCAGGTGGAGCACAGTGGTGCGATCGCAGCTCACTGCAGCCTCAACCTCACAGGCTCAGGTGATCCTCCCAATTCAGCCTTTCGAGGAGCTGGGACTACAGGCATGTACCACCATGCTCAGCTAATTTTGGGGGGGTCTGGGGTTTTTTTGTAGAAATGGGGTTTCTCTGTGTTGCCCAGGCTAGTCTTGAGCTCCTGGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAGAGTGCTGAGATTACAGGCGTGAGCCAATGCAGCAGGCTGAAATTGTAGCTTTTACACAAAGTTGCCTTTTTTACTAAACTTTCTAAAAGGAGGTAGAATACAATTTTAAAAATCCAGATTAAAAGCTATATTATGTCCTCATCATTGAGGAGAACGTATTCTTCAGTCTCCTCTAATAGAGAAAGGTTAAGTACTCACAATTCTTAGTAATTAAATATTTGTATAATGCCTTATAGTTTATAAAGACTTTTACATTCTTATCTCACTTGATTCCAGAAAATCTTTGTGACCTAAATATTAAGTGAGATTACATAAGTTGCCAGAAGTCCCAAAATAACCAAGCGGCAGAGCCAAAAGCTCAACGCAGAGCTTCTAATACTCACTTCTCTTCTCTGAACAGGCTTCCACAGCACTTCCTTCAGATGCCAAAAAATAATAAATTATGGTTTATGACGGAGAGGCCAAGTAAGTGGTGAAAGGAATGTCTAAGTTACATGAATACAATTATTTCTCCTTCATTATGCCTCCCACCTATTAAAGCTAATCATCGCCAGGTGTTGCTATTATTCAAGCCATTATCACAAAACATGAATCAATAAGACCAATCTATTTCAACTATTTTAAGCTTAAAAAAAAAACTCCCTTAAGCTACATGAATTTGTAGCATAATATGCTACAGTAATATGTTTAAGAAAGGGCCTTTTGCTCACTCATCAACCCAGAACAAGGTATGAGGAAACAAAATACTATAAACCAGTTTTCCGTGACTACCACTTTGGCTAATCTATCCACCTATGCTTTCTCTGTTTTGTAAACGGCTCTATAATACCTCCAAAGGCCCATCATAAACTAATAATAATTTCTAAAGGTGTCTGTTGGCAGAGAAAATACTTGCAATTTTAAGACATGAAGAATCTACTTCATGCTGAATTTAACCCCCACATCCTTTGGAACACTAATCCATTCATCTTGCTGTACACACAAATGTCT
TTTTTATGGCATTAATCATTCCTGGATTCACTTTCATTCCAGGTACTAGGCTAGACAATTCAAACACAAAGATGAGTAAGAGAATCCTTGTGCTGCTGAACGTTCTGCAAGAACTGGGTCATAAGCAATTTATTACTCCATAATATGAAAGAATATCTCAAATATAATAATTTAGCATAATATCTATTAATTATAATTAATACTAAATACTCTATACATTTAATTAATTTTGGTTTCTGGAACCTGACTTTACCATCACAGATAATCCATACATAACTGAAAACTTTAACCATGCCTTACAAACCTTTCTTCTAGCCAAAATTTGGACTCTCTAGCAGAAGCAGCATAATTACATGTGCTTTATCCTCCTGCCTAGTCATTGAAGCAGGTGTTAAATATACTGTTGTATTATTTTAAATATCATTACCTATAAAAACAACAGATTTAAAGCACACTGAATCAATAATTCAGCAATATATTCTTTACTCTCCTGTTTGTTATGAAGACAGGATCTGTGCCATTACAGTTCAATACATGAACATCTAGCAAAATGTGTCTCACATAGATATTCTATAAATGTTTGTTAAATAAATCATCCAGGCAGGGGCTATATAAAATAACTGATACAAAATGAGTTCCGGTCACATTACAGATAAAATATTTTTTTCCTTAACAGACTAAAATGAACAGGCTATAGTCAATAATCACTTAAATTGATAAAGGTTTCCTCCAGTAAAAAAGTAATTATGCTTACATATTTATCTATAATTTTGGAAGTCATCAGTTCACATTACTTAAAATTTAAATTGGAATAATATCTTTAATTCTTATGCTCTATCTTATTCCATTTCTCCTTTCTATGCTATCACTATTACAGGGCAATTTGAGAAGCCTAAAATAAAATGCCTTTCTATTACATATTTAATCTCCTAACACAAAAAAGAGACACTTGTAATTAGCTTTTCTAATAAGAGAACAGACTCATTAAAATTTTATCTGAATAAAAATCACAGTTATTACTTACCAAGGCCTTTGATTCTTGGTAGTACATTGCATGTAAAATGTTTATAAGAAGCTACTTTTCCTTCATGGGAAGAAATTCCCACATGAGATTCATAAATTCTTAGACTCCGTGGCTTCTTTGGTCTGGAATGCTTAAACTACAGAATATAAAATTATGTATAGAGTTAAGCCAGGAATTCTGGTATGACACTACCTGATCAAGTATATTTTTAAAAAGTGGTGAATATACTCAAACACTTGGAACTATTCTCACATATAAAAGGCACCAGCTACACTCACTAAATTTTCTCTCAGGAAAAAGTCCTTATGGTCCTGCTAGTGGACCTATTTTAAAAGATAAATCATGTAATAGCTTATGCCTTATCATTGAGTAAATTTTTTTTTAACTTAGGCCTTAGAGAAAATGTAAGAGCCATGAAATACATATGTAATTATCTAATGCAAAGTATATATCAACAAACTCCAATGATTTAAAAGACAGAAAGTGAGTTCAAACAATCACAGAACACTTGTCACTAATATGGCGGTAAAAATTACCCTAGTTAATACATTCATGAGATGGTCTTCCCCATTCCGTGTTTCTAAGGACATTGATCCTAATTCAAACCCTGAGAAATACTGCACTAAAGAGTCTCTGATCAATCAGAAATTGTAGTTTAAAAAAAAAACCAGTATCCCTTATAGATTAGTATATAGCAATTTAGTATTCTGTTTTCTTTAACCTCAAAAACATAGACAACACAAAAACTAACTTCTATATGTTACTGGCTACAGAAGACAGACTATGATACTCATACAGTATAAAAGGAATACTATGATGTAAAATACGCAACTGTCAGTGAAGATAAGCATTGAACATTACTATAAAAGTTATAAAAGTAAAAATTAACTTTCCTAGAAATATTGGAACAATAATTTATTTAAAGATTTGTTGTTCTCACCTCATATGAGTGTTCTGGATCCCAGTGTATCCAATCATAATTCACATTATCACCTTCACGAACCACATACTTTGCCCACGGTGAAATACAAGATCTCTCCGCTTTTACTAGTAATAACTACCTAAAAAGAGAATGACATGTTATTGCTTTAAAATACATCCAGAACTCTGATAATACATAATGGTTTAGGAGCACTGCTACAAGTAGGAAAGGAGGACTGATCTTAAGAATCTAGACCACCATACAGATGTGTGACCTTCAGGAACATAATTCTATCAATGTTGGTTTTCTCATCTGCTGTTACTATATCATCCTTAAAGTAACTTCCAGCTTGAACATTTTATGGCTTTCTGGCAATTTCCACCACTGCAAACCAGCCATAAGAGTGCTTACTTAAACGAACAGTAGATACTAAAAAGACAAGAATATTATTTGGAAGCTTCTGTCAATTAATCAATCAATGGGAGAAAATCATCCTACTCCATTAAAAAAAGCAATTAGTGAGTTATATAACCATCTCTTTCATTTGCTTTCTATAGCAACTAATGAAAACATGTTCAGGAAGCTAAAGAAGAAAAACAGGTTTGATTAACACAATGTGCACGCACAGACACATACATTTTCCACACCTTCTCAACTTCTTTTACCTCCTATTTGTTGTATTCTTTACCATATAAAACCAAACATTATCTCCTTTAATCATCCGTTCACATATTTGCCAGCAATATGACTATTTTTGATAATAAAAAATAACAAATTTATTTTTTTAACTGAATCTACCATTAAGACTTAGAACTGAATAAATGATTTTGAATTTATCCAGCCATATAAATGGAACTTCCAAATGATTGAAATGATAGCTTTTTATTTATTTTATTTTTTTGAGACAGGGACTCACTCTGTCACCCAGGTGGAGCACAGTGGTGCGATCGCAGCTCACTGCAGCCTCAACCTCACAGGCTCAGGTGATCCTCCCAATTCAGCCTTTCGAGGAGCTGGGACTACAGGCATGTACCACCATGCTCAGCTAATTTTGGGGGGGTCTGGGGTTTTTTTGTAGAAATGGGGTTTCTCTGTGTTGCCCAGGCTAGTCTTGAGCTCCTGGGCTCAAGTGATCCTCCTGTCTCAGCCTCCCAGAGTGCTGAGATTACAGGCGTGAGCCAATGCAGCAGGCTGAAATTGTAGCTTTTACACAAAGTTGCCTTTTTTACTAAACTTTCTAAAAGGAGGTAGAATACAATTTTAAAAATCCAGATTAAAAGCTATATTATGTCCTCATCATTGAGGAGAACGTATTCTTCAGTCTCCTCTAATAGAGAAAGGTTAAGTACTCACAATTCTTAGTAATTAAATATTTGTATAATGCCTTATAGTTTATAAAGACTTTTACATTCTTATCTCACTTGATTCCAGAAAATCTTTGTGACCTAAATATTAAGTGAGATTACATAAGTTGCCAGAAGTCCCAAAATAACCAAGCGGCAGAGCCAAAAGCTCAACGCAGAGCTTCTAATACTCACTTCTCTTCTCTGAACAGGCTTCCACAGCACTTCCTTCAGATGCCAAAAAATAATAAATTATGGTTTATGACGGAGAGGCCAAGTAAGTGGTGAAAGGAATGTCTAAGTTACATGAATACAATTATTTCTCCTTCATTATGCCTCCCACCTATTAAAGCTAATCATCGCCAGGTGTTGCTATTATTCAAGCCATTATCACAAAACATGAATCAATAAGACCAATCTATTTCAACTATTTTAAGCTTAAAAAAAAAACTCCCTTAAGCTACATGAATTTGTAGCATAATATGCTACAGTAATATGTTTAAGAAAGGGCCTTTTGCTCACTCATCAACCCAGAACAAGGTATGAGGAAACAAAATACTATAAACCAGTTTTCCGTGACTACCACTTTGGCTAATCTATCCACCTATGCTTTCTCTGTTTTGTAAACGGCTCTATAATACCTCCAAAGGCCCATCATAAACTAATAATAATTTCTAAAGGTGTCTGTTGGCAGAGAAAATACTTGCAATTTTAAGACATGAAGAATCTACTTCATGCTGAATTTAACCCCCACATCCTTTGGAACACTAATCCATTCATCTTGCTGTACACACAAATGTCTNNNNN
pathogenic
71,429
Variant in GBE1 (1,4-alpha-glucan branching enzyme 1), chromosome 3, position 81670963—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
benign
TTAAAAATAACTCATTTATTAGATTATTTCCTTAAAGGCAGTAATTTTTAAAATTCTGATTCCCTATGCATATTACAGTACCAGGTACACAGAAGATACTCAACACATATTTGTTGAACTAGTGAAAATATGAATAAATAGAACTCGGCAGCTAAAAATCAACCTTATGAGGTGATAGACTGTAGTGTAACCCTGCAACCAAAGCTCCACTATGATTGGGAACTTTCCTCGGCTTCAACTAGAACATTTGAGGGTCACAGAATCAAGGAATTCAGAGATTTCACAGCTGCAGCTGGTGCCAAGGAGCTGTTTGCTATTTAGATTAGTTCTCTTAGTTAATTGATTGTAACAAGTAAAAACTCAGTAAAGTTAATCTGCCAATTATCTCAAAAAAATAAAAAGGAAACAGGCAGAAAAAATTCCTGCAACACTTTTTAAAAAGTAGTAAGTTCAGTTCTCAAAAAAAGTTCCGAACCTAAAACAAAGGTTAAAAAAACAGCCATTAAGACTTAAAGCAGCAATGAAAACAATAATAGTTGCCTTGCCACAGTTTCTATAAAATTAGCCCTTATAAACTATCGAAGAATCAAATTATTTGATTTACTTCTTCAAAGACTGAGTCTCAAAATGGCTTTAACACTCAATAAATATCTTTTGAGTGTCTACTCTGCCAGGCACTGTTCAAAGAATTGAGAGTATACAGGAGTAGGAAAAAAAAAACACACACACACACAGCAAAGGCCATGCTCTCATGGAGCTTATACTGACATGGAAAGGGGATTATTTATATTAAATTTTAATTCCTCTTATTGTATACTGTCAGTATTTTTCTCTTTTTCACTATAGATTAAAAGGAACCTTGACTGCCATCTCTTGCTAAACATCTTCTTATCCCAAACAATATTCTTCTCTGCTTACTATTATAATGTGTGGCAATATCTTATTAAATTTTACATACACTTATAATTTCATTATTTATAAAATATTTTTAACAACCTACAAAATAAACATACTGTGCATTTTGATTTAATATATTTAAGTAACTCTGAGTTAATATTGTTAAATAACAAATACCAATAAAAACAACTCAATCATAGGATTTATCATGGTAAATGTCTAAGGAAGGAAGACACAAGGGACATGGAAATATTATATAATTATATGACCATGGAGTAAAATCAAGTAAGTGTGAAAAGATTTAGATCGCTTCTCTTATAATCAAATGCCTTAAATCTGTAATCCAGACTTTGGAACCCATCCTTCAGACATCCCTTGATGAGACAAGAGCAGCCGACTCTAACTGCTCTGCAGACCTTGAATGCAAAACCACATGGTCAACGAAAGCAGAGGGAGTGTGGAGGACGCTCAGCCTGCCTCCAACAGGGAGACCCCTGGGCTAATTCAGGTGGCTTTATCACAGAAGAATATGATAAACAAGACCATACCACCAGCATGTCAGAGGCCAGAAAGAGGAAGAAGCAGAAGAAGCAGTCTCCAAAATGCATGCGCGTCCAACACAGCATCCCCTCCCACATCAATTTCACCCGACCTCTTTACAGATAAAAATCCTCTCTACATTGGCTGATTTGAAGACAGGTTTCATTTTTCCATTAAACTTTCCGTTTCCCAAGCTAAAGTTTTACAATTACTCAAAATCACTTTTAATATATCATTTCTTATATAATGTTTCCAAACTTGTGATAATAATACAACTAAGTTTGGTTCCTTACCAGCCAAACAATTCTAATCTAACCCAGTTCAACTCAAGACTTCCTCCTAAATTTCCCTCTATTTGTACATTTAGACTGTTTCTCCCACAATTATCATGCATCAGTTGTACATTCTAATAGTTTAAATCAAACTTGGCAAACAAGATAAAAAGAAAATGATAAGTTCAAGAAAAAATAGGAGGGAGGAAAGTACCTTTAATTTGGATCCATGAGGCACGAGTACAGATTTATTCTGCTTTGGTGGGATATACAGCTCCCATTTTCCATAATCCAGTTTTTTGTATGGGTACGAAAATGGATTCCAACCATCTAAAAAAATGAAGAAGATCAGTTAACAACAGCATGATAGGACTAATAGTTAATGAATTTCAAGAAAAACAAAATACTGCTTTACTTGCACAAAAAATCAAATTGTCTAAAATAATTGTTTTCTGAAGTGTTAATCAAAATACTAGTGGTTTAGAAAAGGCAGGTTATTCTTAATTTATTTATAAAAAATGCATTTTAAAGTGTGCTTTTGCATTTTATAATTAAATTAAGACTATAACATTTTCAGTTGTGGTTTCAACTCTAATACTTCTGTCAATAAACAGAATGCAAAAGAAAATGATGGATCCTTTTTTTAGAAAACACCATCAACAAAGAGACATATTATGAACAAACAAATGTACATGCCATGGTAGAAAAATAATGACAAACCATTAAAATCATATAACATTTACTGAATTTCATAAGAGTGTGACAGAGCTGACATAAAATCTAAAGAAATGCCTTAAGCAAGAAAGGTAGAAGGTTATATAAAGTATAGGAAGTAAAGAAAAGGTGGAATGCAGAACGTGGAAGAAAGTAAAACCAACAAGAGCAGACTCACACACACGACACTTAACGTATCATAAGGGAGGCATTAAAAACCAGTGAGTAAAGGACACACTATTTAATAAGTGGTGCTGGAAAAATTGGTTATCCTTATGAAAATAAAATAAAATAGATCTCCACCAACTAGTATGTCCCCAAATCATTTGAACATGGATTAATACTTATACATGATAGGCAGAACCATAAAATGCTTAGAAGAAAATACAGAGAAATATATTTACAATATTGGAGTATAAAAGGTTCTTTAAGTAAAATGTTTTTAAAACTATAAAACTTTTAAGACTGATAATTCTGACCATTAAAACTATAAACTTGTCATCATAAATAGATGAATCGATAGAATGACAAGACAAGCTATAAATTGGGAGAATACATTTGTAGTGAATATACCAAAAGAGAGAGAGCATCCATAATACATGAAGAACATTGTAAGTCAATGAGACAAAGAAAACAAATCAAGAGAAAAATTGATAAAAAATATATTCAGGAGAGGACACTTGAATGGCCAATAAACATGTAATGATACTCAAGCTCACTGTTTAATCAATCACAAATTAAAACAACAATAAGATATCATTTCGCACTCAGGACATTGGCAAAAATTAAAAGTTTAAAAATATCATCTAGTCAGCAACGATATAAAACATTGCTGCTGAGGGTATCATTGGTAAAAACAACTTGGTATCATATGTGATGCGAAATTGAAGATATCTTAACCCCACAGCCCGACAATTCAGCTCCTAGGAAATAGTTCAGAGAAATTCTCCTAAATGTACACAAGAAGGCATTCAAAATTATTCCCTGAAGAATCTTTTGTCATAGCCAAAAAACTGGAAGCTATCAAAATTTCAACAGCCACAATATGGGTAAAACCTTGTAGTATAATTAAACAACTGGATGCTATACAATGGTATAAAATGAATGGATTATAGTACCAACATATGCAAATATCCCACACACAAAAGTTAATTTTAAAAGAGTACAGAAGAATAGCATTTATATCAAGATCAAGAACTATCAAAACATTATATGAAACTTATTGATACATAGGTATGTAGTAAAAATATTAAATCAGAAATATGAATATGAAATACCAAATTCTATGGTGATTCCCTGTGGGTAGAAGAAAGGGAACACAAGAAGCTTCAATAATATCTGTATTATTTTTTGTTAAAGTGAGTTGTATACACATAGATGTTTATTACATTATTTACTATTTGTTTATGCCTAAAATATTTCATGGCATTAACAAAAAATCAAGCAGCCTTGTGGCATATACTGGGTCGCTAAGACATTACATTCTCAACTAAGGACATAATAAAGGAATAATCAGGAAACTCATTTTATGCCATTTTTTCTTCCATTACATATTTCACTCTTCTCTCTCAGCCAGTCTGAATACCGGGGGTAAAACAGGAGTAAGAAATAAGATTTAAATAAAGGTTCTTCTAAACAGTTACCTATTCTCCATCATGAAGACAACCTGAAAA
TTAAAAATAACTCATTTATTAGATTATTTCCTTAAAGGCAGTAATTTTTAAAATTCTGATTCCCTATGCATATTACAGTACCAGGTACACAGAAGATACTCAACACATATTTGTTGAACTAGTGAAAATATGAATAAATAGAACTCGGCAGCTAAAAATCAACCTTATGAGGTGATAGACTGTAGTGTAACCCTGCAACCAAAGCTCCACTATGATTGGGAACTTTCCTCGGCTTCAACTAGAACATTTGAGGGTCACAGAATCAAGGAATTCAGAGATTTCACAGCTGCAGCTGGTGCCAAGGAGCTGTTTGCTATTTAGATTAGTTCTCTTAGTTAATTGATTGTAACAAGTAAAAACTCAGTAAAGTTAATCTGCCAATTATCTCAAAAAAATAAAAAGGAAACAGGCAGAAAAAATTCCTGCAACACTTTTTAAAAAGTAGTAAGTTCAGTTCTCAAAAAAAGTTCCGAACCTAAAACAAAGGTTAAAAAAACAGCCATTAAGACTTAAAGCAGCAATGAAAACAATAATAGTTGCCTTGCCACAGTTTCTATAAAATTAGCCCTTATAAACTATCGAAGAATCAAATTATTTGATTTACTTCTTCAAAGACTGAGTCTCAAAATGGCTTTAACACTCAATAAATATCTTTTGAGTGTCTACTCTGCCAGGCACTGTTCAAAGAATTGAGAGTATACAGGAGTAGGAAAAAAAAAACACACACACACACAGCAAAGGCCATGCTCTCATGGAGCTTATACTGACATGGAAAGGGGATTATTTATATTAAATTTTAATTCCTCTTATTGTATACTGTCAGTATTTTTCTCTTTTTCACTATAGATTAAAAGGAACCTTGACTGCCATCTCTTGCTAAACATCTTCTTATCCCAAACAATATTCTTCTCTGCTTACTATTATAATGTGTGGCAATATCTTATTAAATTTTACATACACTTATAATTTCATTATTTATAAAATATTTTTAACAACCTACAAAATAAACATACTGTGCATTTTGATTTAATATATTTAAGTAACTCTGAGTTAATATTGTTAAATAACAAATACCAATAAAAACAACTCAATCATAGGATTTATCATGGTAAATGTCTAAGGAAGGAAGACACAAGGGACATGGAAATATTATATAATTATATGACCATGGAGTAAAATCAAGTAAGTGTGAAAAGATTTAGATCGCTTCTCTTATAATCAAATGCCTTAAATCTGTAATCCAGACTTTGGAACCCATCCTTCAGACATCCCTTGATGAGACAAGAGCAGCCGACTCTAACTGCTCTGCAGACCTTGAATGCAAAACCACATGGTCAACGAAAGCAGAGGGAGTGTGGAGGACGCTCAGCCTGCCTCCAACAGGGAGACCCCTGGGCTAATTCAGGTGGCTTTATCACAGAAGAATATGATAAACAAGACCATACCACCAGCATGTCAGAGGCCAGAAAGAGGAAGAAGCAGAAGAAGCAGTCTCCAAAATGCATGCGCGTCCAACACAGCATCCCCTCCCACATCAATTTCACCCGACCTCTTTACAGATAAAAATCCTCTCTACATTGGCTGATTTGAAGACAGGTTTCATTTTTCCATTAAACTTTCCGTTTCCCAAGCTAAAGTTTTACAATTACTCAAAATCACTTTTAATATATCATTTCTTATATAATGTTTCCAAACTTGTGATAATAATACAACTAAGTTTGGTTCCTTACCAGCCAAACAATTCTAATCTAACCCAGTTCAACTCAAGACTTCCTCCTAAATTTCCCTCTATTTGTACATTTAGACTGTTTCTCCCACAATTATCATGCATCAGTTGTACATTCTAATAGTTTAAATCAAACTTGGCAAACAAGATAAAAAGAAAATGATAAGTTCAAGAAAAAATAGGAGGGAGGAAAGTACCTTTAATTTGGATCCATGAGGCACGAGTACAGATTTATTCTGCTTTGGTGGGATATACAGCTCCCATTTTCCATAATCCAGTTTTTTGTATGGGTACGAAAATGGATTCCAACCATCTAAAAAAATGAAGATCAGTTAACAACAGCATGATAGGACTAATAGTTAATGAATTTCAAGAAAAACAAAATACTGCTTTACTTGCACAAAAAATCAAATTGTCTAAAATAATTGTTTTCTGAAGTGTTAATCAAAATACTAGTGGTTTAGAAAAGGCAGGTTATTCTTAATTTATTTATAAAAAATGCATTTTAAAGTGTGCTTTTGCATTTTATAATTAAATTAAGACTATAACATTTTCAGTTGTGGTTTCAACTCTAATACTTCTGTCAATAAACAGAATGCAAAAGAAAATGATGGATCCTTTTTTTAGAAAACACCATCAACAAAGAGACATATTATGAACAAACAAATGTACATGCCATGGTAGAAAAATAATGACAAACCATTAAAATCATATAACATTTACTGAATTTCATAAGAGTGTGACAGAGCTGACATAAAATCTAAAGAAATGCCTTAAGCAAGAAAGGTAGAAGGTTATATAAAGTATAGGAAGTAAAGAAAAGGTGGAATGCAGAACGTGGAAGAAAGTAAAACCAACAAGAGCAGACTCACACACACGACACTTAACGTATCATAAGGGAGGCATTAAAAACCAGTGAGTAAAGGACACACTATTTAATAAGTGGTGCTGGAAAAATTGGTTATCCTTATGAAAATAAAATAAAATAGATCTCCACCAACTAGTATGTCCCCAAATCATTTGAACATGGATTAATACTTATACATGATAGGCAGAACCATAAAATGCTTAGAAGAAAATACAGAGAAATATATTTACAATATTGGAGTATAAAAGGTTCTTTAAGTAAAATGTTTTTAAAACTATAAAACTTTTAAGACTGATAATTCTGACCATTAAAACTATAAACTTGTCATCATAAATAGATGAATCGATAGAATGACAAGACAAGCTATAAATTGGGAGAATACATTTGTAGTGAATATACCAAAAGAGAGAGAGCATCCATAATACATGAAGAACATTGTAAGTCAATGAGACAAAGAAAACAAATCAAGAGAAAAATTGATAAAAAATATATTCAGGAGAGGACACTTGAATGGCCAATAAACATGTAATGATACTCAAGCTCACTGTTTAATCAATCACAAATTAAAACAACAATAAGATATCATTTCGCACTCAGGACATTGGCAAAAATTAAAAGTTTAAAAATATCATCTAGTCAGCAACGATATAAAACATTGCTGCTGAGGGTATCATTGGTAAAAACAACTTGGTATCATATGTGATGCGAAATTGAAGATATCTTAACCCCACAGCCCGACAATTCAGCTCCTAGGAAATAGTTCAGAGAAATTCTCCTAAATGTACACAAGAAGGCATTCAAAATTATTCCCTGAAGAATCTTTTGTCATAGCCAAAAAACTGGAAGCTATCAAAATTTCAACAGCCACAATATGGGTAAAACCTTGTAGTATAATTAAACAACTGGATGCTATACAATGGTATAAAATGAATGGATTATAGTACCAACATATGCAAATATCCCACACACAAAAGTTAATTTTAAAAGAGTACAGAAGAATAGCATTTATATCAAGATCAAGAACTATCAAAACATTATATGAAACTTATTGATACATAGGTATGTAGTAAAAATATTAAATCAGAAATATGAATATGAAATACCAAATTCTATGGTGATTCCCTGTGGGTAGAAGAAAGGGAACACAAGAAGCTTCAATAATATCTGTATTATTTTTTGTTAAAGTGAGTTGTATACACATAGATGTTTATTACATTATTTACTATTTGTTTATGCCTAAAATATTTCATGGCATTAACAAAAAATCAAGCAGCCTTGTGGCATATACTGGGTCGCTAAGACATTACATTCTCAACTAAGGACATAATAAAGGAATAATCAGGAAACTCATTTTATGCCATTTTTTCTTCCATTACATATTTCACTCTTCTCTCTCAGCCAGTCTGAATACCGGGGGTAAAACAGGAGTAAGAAATAAGATTTAAATAAAGGTTCTTCTAAACAGTTACCTATTCTCCATCATGAAGACAACCTGAAAANNN
benign
71,439
Assess the variant on chromosome 3, position 81705468, impacting GBE1 (1,4-alpha-glucan branching enzyme 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Adult_polyglucosan_body_disease', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
AATTATTTTCAGTCCTTAGACCTGTACTTTCCAGTAAAGAAGCCAGTAGCTACAAGAGGCGATAGAGCACTTGAACTGAGGCTAGTGCAACTTAGAAACTGAATTTTATATTTTATTTTATCTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGAAAAGAAAAGTGGATGGTTGCATCTGTACTGAACACTTAAACAGTCTATTTTTTCTGGTCATTATTCCATAAACAATACAGTATAACAAATATTTATACAGCATTTACATTGTATTGGGTATTGTAAATAATCCAGACATGATTGAAAGTATAAGGGAAGATGTGCCTAGGTTATATGCAAATACTACATCATTTTATACAAGAGACTTAAGCATCCTTGGATTTTGGTATCCACGAGAAGTTGTAGAACAAGTTCCCCATTGACACCGAAGGATTACTGTATTTGCAATGAAAACTTACCATCTTAATTAAGACTTGCTGTACCCAGATTTCAAAGATGTGGTACAAGAAAAGAATGAAATTCTCATCAATAAAATTTACATTGATTAAATATTAAAATGATAATATTTTATATACTAGGTAAATATAATTTATTATTAAATTTTACTCTACTGTTCTCCTTTCACCTTTTTAATATTGTTACTAAAATTTCTGAATTACGTAAGTGGCTTGCATTTTATTTCTGTTGGACAGTGCTGTCTTAGACAATGCATATTAATATAAAACCCAAAGTTCTGTTAAGTCAGGTTCCTTGAAGAATAATTTACATTGCATTAAAATTTGTTCTTTATACATGTACAGTTCTATAAATGTTGATAAATTCATACAATCAGGTAACCAGCACCACAATCAGGATATAAAACATTTTCACCACCCCAAAAATTCCCTCACGTCCCTCTGTAATCAACCTTTACCCACCACCCCAACCCCTGACAACAATGATCTGTTATCTGTCCCCACAGTTTTGCTGTTTCTAAAACGTCATAAAAATTGAATAACACAGCATGTAGACTTTTGAGCCCAGTGAAATCAAATTTTAAATATTATACCATTCTATGGTATTAAAGGATTATGATCATTTTGATATTCCTTTTCCTTGTATCAAGAACCTTTACCAAGGCCTATTTTTTCCAGTTATTCCACTTTCAAAACTGAACTTTCATCCTTGTCATCATTCTAGTAATGTATTTACCCTTCAAGAATAAAACTTAGTAGATTGTATTACAGTTATTTACATTACAGTCCTTCCTCCCACCAGACTCTAAGCTAGAAACCTGACTTTGCTTTCCATAGCGTTAACTCTGTCTAGTGGAGTTAACAGTGCAAATGACAATGCTGACAAGATATTTCCCACTGTGTTCTAAAACAAGGTAAAGGAAAAAAAGAAATGAGTGATGGAGGTTACACCCCAGATTAGATATCTACTTTTACTGAAGACTCCGAAAAGAGTATAAGGCTATACAGAGGATCCAAGAACTATGATGCCAGCCAGCCAGGTGTGAATGCTAGCGGAGCTTTATGCCAATATTTTTACCTGGATTGCTATTGGTTTTGTCAGAGCTTGCTAACAAAGTTAAGTAAATTTGGAGTTGTCTTCCTAATAGCATTTTTCTCATAAACCTTGTTATTTCTAGTACATGATTTTACAGAACATAAAGTCTTTCAAGAATACACATATCACATTATAACAGAAACAGCTGCACCATACAAAGAGCTTAATAAATTCTAAGGCTCTATCTGAAAAGTCTGATATTTATTTGTAATCATTAAAGTTCATATGGTTAAATACATGAAATATAAGAAATATATGTATTAAATAGTTAATAAGATATTACTATTTAGTTCAATGCTTTCAAGTACTTACTAAAATCTCCAGTAAGAAAAACTCCTTCTGCTCCCGGGGCCCATTCTTTGCAGTATAAACCACCATCAGCACATCTGTGGACGCCAAATGATTCATAGCCTCTGGAAAACTTATCAATACCACCTTCATTTTCTCCAATGTTCTTCAAAATTTGGCTAAACTGCTTATACCTTTGAAGAAGTATGAAAGAAAATGAGTTAGAAAATTAAATAGTCTTCTAGAAAAGCTACTGTAATTAAGTAACTGCTTTAGTCTTATTCAGGGAAAAAAAGACATTATTAAAGAAGAATAATATAAATAATTTCATTTATTAGTAGAGGCTACCTGGTAGGATAAAATCATTCTTATTTAAAATAAACTGAGCTAATCTAACTAGCATTTTTTGTAACTTCAAGCACTGGTATGAGAGAGGAAATATGATGGTTATACTATTTCATGAATTTTTTTAAAAACTAGCATTATAGCAACTTCCATGTCAAGACAGTGTAATGGAACAGAATCTCTACATCTCTCTCCTCTGATTCCTAAGAAAATGAAATAACACAGTCAAAATTCAGCAAGAAAAATAAAATTAGCCTACTGCAGGGTTTGGCAAACTTTTCCTGTAAAGGGGCAGACGGCAAATATTTTAGGCTTTGTCAGCCATATGGTCTCTGTCACAGCTACTCGAGGGTGTCTCTGAAGTACGAAAGGGGCCATGGACAAAAAGTTAATGAGTGGGTGTGGCTGTGTTCCAATAACACTTTATTTACAAAAAACAGGTAGTGGGCCAGATTTGGCCTGCAGCCTTTTCCTTCCCTAAAGCAACTAAGCATGTCAAGAACATACACCATATCAAAGCACAAAAGCCAGTGGCCACAAGAAGAAATCACAGATTCCTAAGCAGGGCAAAGAACAGCACATGCCTGCTCCTGACCCTCTCCCAGTTCCCCTGGATCAGGTACTGGTACACCAAAAAGTACTACCCTATTTTCATTAGTATCCCCTATATCCAGTAAGAAACAAACTAGGAAAAACTTGGTAAAACTGGAGAAGTAAACCATGTGCCAGGTGCTCTATGTCAGAAGTGAAGGTTCCAGAACTATACAATGAACTAGGCAATGCCAATAAGCTTCTCTACACCTCCCCATACCCTCAGGGGTAAGGAATCTTTCCCAGAAAGATGGCAGGAATCGAGGCACGGGATGTCCAGGGAATATACAAAATTTGAGATGCAGAATAATGAACCACATCTCAACTTAGCTACATAGAAAATGGACCTTTTTACAAATACTTCACATTATACAACTTAATTAAAAATAAACTCAAAAGAATAAGAGCTGAAAGATTATATGACAACAGAATGAAAAGTAAAAGACTGCAGACTTAAGGAAATAAATGGAGGAATAAAGTATATCAATAGATAATGATGAGTTAGACTCAACAAAAAAAAGTACATAAGTATAGCAAAAATAGCAAATTATTAAATGAATAAATAATTGAGAATTGAAATAATTAAAGAAAAACAATGAATTTGAATATATTAAAAAGAACCTAAGAGATACCCAACATAGACAAAAAAAAATGATCCAAATATGGATATAGCTGCTGACTGAAAAATAAAACCAAATAAAATGAATATGGAAGATATAAAACTGGAAAATTATCCTAAAGAATTAAATCCACATATTAAAAAGAGCATACAATGTTTTAAGAAAGGTTTGGGAAACAAACACACACAAAATGTATCCCAATTTAAGCAACTGAAATTCAAAAGATAAAAGAAATGAGTCTATAGACAACCAGGCAGAAAAAGGCAACATTAATTAAAAACCAAAAGATAAAGCCAACTCCACACAATTCTAAGAAGGAAAAGTAATCTAGGAATATCCTAGGAGACAAGTTTCTATTCATATCTAAGGGATTTTTTTAAATATTGTCAAATTTAAAATTGAGTTTTAGTCAATGACACTAATGAACCATTCTAGAAGAAAAATAAGCTACTTTCCATTTTTCTAAATGGCAATTAAAAATTAAAAACAAACACATACAAGACTGAACAGTTATTGTAGGAGTGTGTCTAAGAACTGACT
AATTATTTTCAGTCCTTAGACCTGTACTTTCCAGTAAAGAAGCCAGTAGCTACAAGAGGCGATAGAGCACTTGAACTGAGGCTAGTGCAACTTAGAAACTGAATTTTATATTTTATTTTATCTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGAAAAGAAAAGTGGATGGTTGCATCTGTACTGAACACTTAAACAGTCTATTTTTTCTGGTCATTATTCCATAAACAATACAGTATAACAAATATTTATACAGCATTTACATTGTATTGGGTATTGTAAATAATCCAGACATGATTGAAAGTATAAGGGAAGATGTGCCTAGGTTATATGCAAATACTACATCATTTTATACAAGAGACTTAAGCATCCTTGGATTTTGGTATCCACGAGAAGTTGTAGAACAAGTTCCCCATTGACACCGAAGGATTACTGTATTTGCAATGAAAACTTACCATCTTAATTAAGACTTGCTGTACCCAGATTTCAAAGATGTGGTACAAGAAAAGAATGAAATTCTCATCAATAAAATTTACATTGATTAAATATTAAAATGATAATATTTTATATACTAGGTAAATATAATTTATTATTAAATTTTACTCTACTGTTCTCCTTTCACCTTTTTAATATTGTTACTAAAATTTCTGAATTACGTAAGTGGCTTGCATTTTATTTCTGTTGGACAGTGCTGTCTTAGACAATGCATATTAATATAAAACCCAAAGTTCTGTTAAGTCAGGTTCCTTGAAGAATAATTTACATTGCATTAAAATTTGTTCTTTATACATGTACAGTTCTATAAATGTTGATAAATTCATACAATCAGGTAACCAGCACCACAATCAGGATATAAAACATTTTCACCACCCCAAAAATTCCCTCACGTCCCTCTGTAATCAACCTTTACCCACCACCCCAACCCCTGACAACAATGATCTGTTATCTGTCCCCACAGTTTTGCTGTTTCTAAAACGTCATAAAAATTGAATAACACAGCATGTAGACTTTTGAGCCCAGTGAAATCAAATTTTAAATATTATACCATTCTATGGTATTAAAGGATTATGATCATTTTGATATTCCTTTTCCTTGTATCAAGAACCTTTACCAAGGCCTATTTTTTCCAGTTATTCCACTTTCAAAACTGAACTTTCATCCTTGTCATCATTCTAGTAATGTATTTACCCTTCAAGAATAAAACTTAGTAGATTGTATTACAGTTATTTACATTACAGTCCTTCCTCCCACCAGACTCTAAGCTAGAAACCTGACTTTGCTTTCCATAGCGTTAACTCTGTCTAGTGGAGTTAACAGTGCAAATGACAATGCTGACAAGATATTTCCCACTGTGTTCTAAAACAAGGTAAAGGAAAAAAAGAAATGAGTGATGGAGGTTACACCCCAGATTAGATATCTACTTTTACTGAAGACTCCGAAAAGAGTATAAGGCTATACAGAGGATCCAAGAACTATGATGCCAGCCAGCCAGGTGTGAATGCTAGCGGAGCTTTATGCCAATATTTTTACCTGGATTGCTATTGGTTTTGTCAGAGCTTGCTAACAAAGTTAAGTAAATTTGGAGTTGTCTTCCTAATAGCATTTTTCTCATAAACCTTGTTATTTCTAGTACATGATTTTACAGAACATAAAGTCTTTCAAGAATACACATATCACATTATAACAGAAACAGCTGCACCATACAAAGAGCTTAATAAATTCTAAGGCTCTATCTGAAAAGTCTGATATTTATTTGTAATCATTAAAGTTCATATGGTTAAATACATGAAATATAAGAAATATATGTATTAAATAGTTAATAAGATATTACTATTTAGTTCAATGCTTTCAAGTACTTACTAAAATCTCCAGTAAGAAAAACTCCTCTGCTCCCGGGGCCCATTCTTTGCAGTATAAACCACCATCAGCACATCTGTGGACGCCAAATGATTCATAGCCTCTGGAAAACTTATCAATACCACCTTCATTTTCTCCAATGTTCTTCAAAATTTGGCTAAACTGCTTATACCTTTGAAGAAGTATGAAAGAAAATGAGTTAGAAAATTAAATAGTCTTCTAGAAAAGCTACTGTAATTAAGTAACTGCTTTAGTCTTATTCAGGGAAAAAAAGACATTATTAAAGAAGAATAATATAAATAATTTCATTTATTAGTAGAGGCTACCTGGTAGGATAAAATCATTCTTATTTAAAATAAACTGAGCTAATCTAACTAGCATTTTTTGTAACTTCAAGCACTGGTATGAGAGAGGAAATATGATGGTTATACTATTTCATGAATTTTTTTAAAAACTAGCATTATAGCAACTTCCATGTCAAGACAGTGTAATGGAACAGAATCTCTACATCTCTCTCCTCTGATTCCTAAGAAAATGAAATAACACAGTCAAAATTCAGCAAGAAAAATAAAATTAGCCTACTGCAGGGTTTGGCAAACTTTTCCTGTAAAGGGGCAGACGGCAAATATTTTAGGCTTTGTCAGCCATATGGTCTCTGTCACAGCTACTCGAGGGTGTCTCTGAAGTACGAAAGGGGCCATGGACAAAAAGTTAATGAGTGGGTGTGGCTGTGTTCCAATAACACTTTATTTACAAAAAACAGGTAGTGGGCCAGATTTGGCCTGCAGCCTTTTCCTTCCCTAAAGCAACTAAGCATGTCAAGAACATACACCATATCAAAGCACAAAAGCCAGTGGCCACAAGAAGAAATCACAGATTCCTAAGCAGGGCAAAGAACAGCACATGCCTGCTCCTGACCCTCTCCCAGTTCCCCTGGATCAGGTACTGGTACACCAAAAAGTACTACCCTATTTTCATTAGTATCCCCTATATCCAGTAAGAAACAAACTAGGAAAAACTTGGTAAAACTGGAGAAGTAAACCATGTGCCAGGTGCTCTATGTCAGAAGTGAAGGTTCCAGAACTATACAATGAACTAGGCAATGCCAATAAGCTTCTCTACACCTCCCCATACCCTCAGGGGTAAGGAATCTTTCCCAGAAAGATGGCAGGAATCGAGGCACGGGATGTCCAGGGAATATACAAAATTTGAGATGCAGAATAATGAACCACATCTCAACTTAGCTACATAGAAAATGGACCTTTTTACAAATACTTCACATTATACAACTTAATTAAAAATAAACTCAAAAGAATAAGAGCTGAAAGATTATATGACAACAGAATGAAAAGTAAAAGACTGCAGACTTAAGGAAATAAATGGAGGAATAAAGTATATCAATAGATAATGATGAGTTAGACTCAACAAAAAAAAGTACATAAGTATAGCAAAAATAGCAAATTATTAAATGAATAAATAATTGAGAATTGAAATAATTAAAGAAAAACAATGAATTTGAATATATTAAAAAGAACCTAAGAGATACCCAACATAGACAAAAAAAAATGATCCAAATATGGATATAGCTGCTGACTGAAAAATAAAACCAAATAAAATGAATATGGAAGATATAAAACTGGAAAATTATCCTAAAGAATTAAATCCACATATTAAAAAGAGCATACAATGTTTTAAGAAAGGTTTGGGAAACAAACACACACAAAATGTATCCCAATTTAAGCAACTGAAATTCAAAAGATAAAAGAAATGAGTCTATAGACAACCAGGCAGAAAAAGGCAACATTAATTAAAAACCAAAAGATAAAGCCAACTCCACACAATTCTAAGAAGGAAAAGTAATCTAGGAATATCCTAGGAGACAAGTTTCTATTCATATCTAAGGGATTTTTTTAAATATTGTCAAATTTAAAATTGAGTTTTAGTCAATGACACTAATGAACCATTCTAGAAGAAAAATAAGCTACTTTCCATTTTTCTAAATGGCAATTAAAAATTAAAAACAAACACATACAAGACTGAACAGTTATTGTAGGAGTGTGTCTAAGAACTGACTN
pathogenic
71,442
Chromosome 3, position 81705540, gene GBE1 (1,4-alpha-glucan branching enzyme 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['GBE1-related_disorder', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
GAACTGAGGCTAGTGCAACTTAGAAACTGAATTTTATATTTTATTTTATCTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGAAAAGAAAAGTGGATGGTTGCATCTGTACTGAACACTTAAACAGTCTATTTTTTCTGGTCATTATTCCATAAACAATACAGTATAACAAATATTTATACAGCATTTACATTGTATTGGGTATTGTAAATAATCCAGACATGATTGAAAGTATAAGGGAAGATGTGCCTAGGTTATATGCAAATACTACATCATTTTATACAAGAGACTTAAGCATCCTTGGATTTTGGTATCCACGAGAAGTTGTAGAACAAGTTCCCCATTGACACCGAAGGATTACTGTATTTGCAATGAAAACTTACCATCTTAATTAAGACTTGCTGTACCCAGATTTCAAAGATGTGGTACAAGAAAAGAATGAAATTCTCATCAATAAAATTTACATTGATTAAATATTAAAATGATAATATTTTATATACTAGGTAAATATAATTTATTATTAAATTTTACTCTACTGTTCTCCTTTCACCTTTTTAATATTGTTACTAAAATTTCTGAATTACGTAAGTGGCTTGCATTTTATTTCTGTTGGACAGTGCTGTCTTAGACAATGCATATTAATATAAAACCCAAAGTTCTGTTAAGTCAGGTTCCTTGAAGAATAATTTACATTGCATTAAAATTTGTTCTTTATACATGTACAGTTCTATAAATGTTGATAAATTCATACAATCAGGTAACCAGCACCACAATCAGGATATAAAACATTTTCACCACCCCAAAAATTCCCTCACGTCCCTCTGTAATCAACCTTTACCCACCACCCCAACCCCTGACAACAATGATCTGTTATCTGTCCCCACAGTTTTGCTGTTTCTAAAACGTCATAAAAATTGAATAACACAGCATGTAGACTTTTGAGCCCAGTGAAATCAAATTTTAAATATTATACCATTCTATGGTATTAAAGGATTATGATCATTTTGATATTCCTTTTCCTTGTATCAAGAACCTTTACCAAGGCCTATTTTTTCCAGTTATTCCACTTTCAAAACTGAACTTTCATCCTTGTCATCATTCTAGTAATGTATTTACCCTTCAAGAATAAAACTTAGTAGATTGTATTACAGTTATTTACATTACAGTCCTTCCTCCCACCAGACTCTAAGCTAGAAACCTGACTTTGCTTTCCATAGCGTTAACTCTGTCTAGTGGAGTTAACAGTGCAAATGACAATGCTGACAAGATATTTCCCACTGTGTTCTAAAACAAGGTAAAGGAAAAAAAGAAATGAGTGATGGAGGTTACACCCCAGATTAGATATCTACTTTTACTGAAGACTCCGAAAAGAGTATAAGGCTATACAGAGGATCCAAGAACTATGATGCCAGCCAGCCAGGTGTGAATGCTAGCGGAGCTTTATGCCAATATTTTTACCTGGATTGCTATTGGTTTTGTCAGAGCTTGCTAACAAAGTTAAGTAAATTTGGAGTTGTCTTCCTAATAGCATTTTTCTCATAAACCTTGTTATTTCTAGTACATGATTTTACAGAACATAAAGTCTTTCAAGAATACACATATCACATTATAACAGAAACAGCTGCACCATACAAAGAGCTTAATAAATTCTAAGGCTCTATCTGAAAAGTCTGATATTTATTTGTAATCATTAAAGTTCATATGGTTAAATACATGAAATATAAGAAATATATGTATTAAATAGTTAATAAGATATTACTATTTAGTTCAATGCTTTCAAGTACTTACTAAAATCTCCAGTAAGAAAAACTCCTTCTGCTCCCGGGGCCCATTCTTTGCAGTATAAACCACCATCAGCACATCTGTGGACGCCAAATGATTCATAGCCTCTGGAAAACTTATCAATACCACCTTCATTTTCTCCAATGTTCTTCAAAATTTGGCTAAACTGCTTATACCTTTGAAGAAGTATGAAAGAAAATGAGTTAGAAAATTAAATAGTCTTCTAGAAAAGCTACTGTAATTAAGTAACTGCTTTAGTCTTATTCAGGGAAAAAAAGACATTATTAAAGAAGAATAATATAAATAATTTCATTTATTAGTAGAGGCTACCTGGTAGGATAAAATCATTCTTATTTAAAATAAACTGAGCTAATCTAACTAGCATTTTTTGTAACTTCAAGCACTGGTATGAGAGAGGAAATATGATGGTTATACTATTTCATGAATTTTTTTAAAAACTAGCATTATAGCAACTTCCATGTCAAGACAGTGTAATGGAACAGAATCTCTACATCTCTCTCCTCTGATTCCTAAGAAAATGAAATAACACAGTCAAAATTCAGCAAGAAAAATAAAATTAGCCTACTGCAGGGTTTGGCAAACTTTTCCTGTAAAGGGGCAGACGGCAAATATTTTAGGCTTTGTCAGCCATATGGTCTCTGTCACAGCTACTCGAGGGTGTCTCTGAAGTACGAAAGGGGCCATGGACAAAAAGTTAATGAGTGGGTGTGGCTGTGTTCCAATAACACTTTATTTACAAAAAACAGGTAGTGGGCCAGATTTGGCCTGCAGCCTTTTCCTTCCCTAAAGCAACTAAGCATGTCAAGAACATACACCATATCAAAGCACAAAAGCCAGTGGCCACAAGAAGAAATCACAGATTCCTAAGCAGGGCAAAGAACAGCACATGCCTGCTCCTGACCCTCTCCCAGTTCCCCTGGATCAGGTACTGGTACACCAAAAAGTACTACCCTATTTTCATTAGTATCCCCTATATCCAGTAAGAAACAAACTAGGAAAAACTTGGTAAAACTGGAGAAGTAAACCATGTGCCAGGTGCTCTATGTCAGAAGTGAAGGTTCCAGAACTATACAATGAACTAGGCAATGCCAATAAGCTTCTCTACACCTCCCCATACCCTCAGGGGTAAGGAATCTTTCCCAGAAAGATGGCAGGAATCGAGGCACGGGATGTCCAGGGAATATACAAAATTTGAGATGCAGAATAATGAACCACATCTCAACTTAGCTACATAGAAAATGGACCTTTTTACAAATACTTCACATTATACAACTTAATTAAAAATAAACTCAAAAGAATAAGAGCTGAAAGATTATATGACAACAGAATGAAAAGTAAAAGACTGCAGACTTAAGGAAATAAATGGAGGAATAAAGTATATCAATAGATAATGATGAGTTAGACTCAACAAAAAAAAGTACATAAGTATAGCAAAAATAGCAAATTATTAAATGAATAAATAATTGAGAATTGAAATAATTAAAGAAAAACAATGAATTTGAATATATTAAAAAGAACCTAAGAGATACCCAACATAGACAAAAAAAAATGATCCAAATATGGATATAGCTGCTGACTGAAAAATAAAACCAAATAAAATGAATATGGAAGATATAAAACTGGAAAATTATCCTAAAGAATTAAATCCACATATTAAAAAGAGCATACAATGTTTTAAGAAAGGTTTGGGAAACAAACACACACAAAATGTATCCCAATTTAAGCAACTGAAATTCAAAAGATAAAAGAAATGAGTCTATAGACAACCAGGCAGAAAAAGGCAACATTAATTAAAAACCAAAAGATAAAGCCAACTCCACACAATTCTAAGAAGGAAAAGTAATCTAGGAATATCCTAGGAGACAAGTTTCTATTCATATCTAAGGGATTTTTTTAAATATTGTCAAATTTAAAATTGAGTTTTAGTCAATGACACTAATGAACCATTCTAGAAGAAAAATAAGCTACTTTCCATTTTTCTAAATGGCAATTAAAAATTAAAAACAAACACATACAAGACTGAACAGTTATTGTAGGAGTGTGTCTAAGAACTGACTCCTTAAATATAGAACCTTGGCTAGACAACTGTGGAACTGTATGAATGTGATCATGAAAAAAGGATCTCAACT
GAACTGAGGCTAGTGCAACTTAGAAACTGAATTTTATATTTTATTTTATCTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGAAAAGAAAAGTGGATGGTTGCATCTGTACTGAACACTTAAACAGTCTATTTTTTCTGGTCATTATTCCATAAACAATACAGTATAACAAATATTTATACAGCATTTACATTGTATTGGGTATTGTAAATAATCCAGACATGATTGAAAGTATAAGGGAAGATGTGCCTAGGTTATATGCAAATACTACATCATTTTATACAAGAGACTTAAGCATCCTTGGATTTTGGTATCCACGAGAAGTTGTAGAACAAGTTCCCCATTGACACCGAAGGATTACTGTATTTGCAATGAAAACTTACCATCTTAATTAAGACTTGCTGTACCCAGATTTCAAAGATGTGGTACAAGAAAAGAATGAAATTCTCATCAATAAAATTTACATTGATTAAATATTAAAATGATAATATTTTATATACTAGGTAAATATAATTTATTATTAAATTTTACTCTACTGTTCTCCTTTCACCTTTTTAATATTGTTACTAAAATTTCTGAATTACGTAAGTGGCTTGCATTTTATTTCTGTTGGACAGTGCTGTCTTAGACAATGCATATTAATATAAAACCCAAAGTTCTGTTAAGTCAGGTTCCTTGAAGAATAATTTACATTGCATTAAAATTTGTTCTTTATACATGTACAGTTCTATAAATGTTGATAAATTCATACAATCAGGTAACCAGCACCACAATCAGGATATAAAACATTTTCACCACCCCAAAAATTCCCTCACGTCCCTCTGTAATCAACCTTTACCCACCACCCCAACCCCTGACAACAATGATCTGTTATCTGTCCCCACAGTTTTGCTGTTTCTAAAACGTCATAAAAATTGAATAACACAGCATGTAGACTTTTGAGCCCAGTGAAATCAAATTTTAAATATTATACCATTCTATGGTATTAAAGGATTATGATCATTTTGATATTCCTTTTCCTTGTATCAAGAACCTTTACCAAGGCCTATTTTTTCCAGTTATTCCACTTTCAAAACTGAACTTTCATCCTTGTCATCATTCTAGTAATGTATTTACCCTTCAAGAATAAAACTTAGTAGATTGTATTACAGTTATTTACATTACAGTCCTTCCTCCCACCAGACTCTAAGCTAGAAACCTGACTTTGCTTTCCATAGCGTTAACTCTGTCTAGTGGAGTTAACAGTGCAAATGACAATGCTGACAAGATATTTCCCACTGTGTTCTAAAACAAGGTAAAGGAAAAAAAGAAATGAGTGATGGAGGTTACACCCCAGATTAGATATCTACTTTTACTGAAGACTCCGAAAAGAGTATAAGGCTATACAGAGGATCCAAGAACTATGATGCCAGCCAGCCAGGTGTGAATGCTAGCGGAGCTTTATGCCAATATTTTTACCTGGATTGCTATTGGTTTTGTCAGAGCTTGCTAACAAAGTTAAGTAAATTTGGAGTTGTCTTCCTAATAGCATTTTTCTCATAAACCTTGTTATTTCTAGTACATGATTTTACAGAACATAAAGTCTTTCAAGAATACACATATCACATTATAACAGAAACAGCTGCACCATACAAAGAGCTTAATAAATTCTAAGGCTCTATCTGAAAAGTCTGATATTTATTTGTAATCATTAAAGTTCATATGGTTAAATACATGAAATATAAGAAATATATGTATTAAATAGTTAATAAGATATTACTATTTAGTTCAATGCTTTCAAGTACTTACTAAAATCTCCAGTAAGAAAAACTCCTTCTGCTCCCGGGGCCCATTCTTTGCAGTATAAACCACCATCAGCACATCTGTGGACGCCAAATGATTCATACCTCTGGAAAACTTATCAATACCACCTTCATTTTCTCCAATGTTCTTCAAAATTTGGCTAAACTGCTTATACCTTTGAAGAAGTATGAAAGAAAATGAGTTAGAAAATTAAATAGTCTTCTAGAAAAGCTACTGTAATTAAGTAACTGCTTTAGTCTTATTCAGGGAAAAAAAGACATTATTAAAGAAGAATAATATAAATAATTTCATTTATTAGTAGAGGCTACCTGGTAGGATAAAATCATTCTTATTTAAAATAAACTGAGCTAATCTAACTAGCATTTTTTGTAACTTCAAGCACTGGTATGAGAGAGGAAATATGATGGTTATACTATTTCATGAATTTTTTTAAAAACTAGCATTATAGCAACTTCCATGTCAAGACAGTGTAATGGAACAGAATCTCTACATCTCTCTCCTCTGATTCCTAAGAAAATGAAATAACACAGTCAAAATTCAGCAAGAAAAATAAAATTAGCCTACTGCAGGGTTTGGCAAACTTTTCCTGTAAAGGGGCAGACGGCAAATATTTTAGGCTTTGTCAGCCATATGGTCTCTGTCACAGCTACTCGAGGGTGTCTCTGAAGTACGAAAGGGGCCATGGACAAAAAGTTAATGAGTGGGTGTGGCTGTGTTCCAATAACACTTTATTTACAAAAAACAGGTAGTGGGCCAGATTTGGCCTGCAGCCTTTTCCTTCCCTAAAGCAACTAAGCATGTCAAGAACATACACCATATCAAAGCACAAAAGCCAGTGGCCACAAGAAGAAATCACAGATTCCTAAGCAGGGCAAAGAACAGCACATGCCTGCTCCTGACCCTCTCCCAGTTCCCCTGGATCAGGTACTGGTACACCAAAAAGTACTACCCTATTTTCATTAGTATCCCCTATATCCAGTAAGAAACAAACTAGGAAAAACTTGGTAAAACTGGAGAAGTAAACCATGTGCCAGGTGCTCTATGTCAGAAGTGAAGGTTCCAGAACTATACAATGAACTAGGCAATGCCAATAAGCTTCTCTACACCTCCCCATACCCTCAGGGGTAAGGAATCTTTCCCAGAAAGATGGCAGGAATCGAGGCACGGGATGTCCAGGGAATATACAAAATTTGAGATGCAGAATAATGAACCACATCTCAACTTAGCTACATAGAAAATGGACCTTTTTACAAATACTTCACATTATACAACTTAATTAAAAATAAACTCAAAAGAATAAGAGCTGAAAGATTATATGACAACAGAATGAAAAGTAAAAGACTGCAGACTTAAGGAAATAAATGGAGGAATAAAGTATATCAATAGATAATGATGAGTTAGACTCAACAAAAAAAAGTACATAAGTATAGCAAAAATAGCAAATTATTAAATGAATAAATAATTGAGAATTGAAATAATTAAAGAAAAACAATGAATTTGAATATATTAAAAAGAACCTAAGAGATACCCAACATAGACAAAAAAAAATGATCCAAATATGGATATAGCTGCTGACTGAAAAATAAAACCAAATAAAATGAATATGGAAGATATAAAACTGGAAAATTATCCTAAAGAATTAAATCCACATATTAAAAAGAGCATACAATGTTTTAAGAAAGGTTTGGGAAACAAACACACACAAAATGTATCCCAATTTAAGCAACTGAAATTCAAAAGATAAAAGAAATGAGTCTATAGACAACCAGGCAGAAAAAGGCAACATTAATTAAAAACCAAAAGATAAAGCCAACTCCACACAATTCTAAGAAGGAAAAGTAATCTAGGAATATCCTAGGAGACAAGTTTCTATTCATATCTAAGGGATTTTTTTAAATATTGTCAAATTTAAAATTGAGTTTTAGTCAATGACACTAATGAACCATTCTAGAAGAAAAATAAGCTACTTTCCATTTTTCTAAATGGCAATTAAAAATTAAAAACAAACACATACAAGACTGAACAGTTATTGTAGGAGTGTGTCTAAGAACTGACTCCTTAAATATAGAACCTTGGCTAGACAACTGTGGAACTGTATGAATGTGATCATGAAAAAAGGATCTCAACTN
pathogenic
71,443
Variant in gene GBE1 (1,4-alpha-glucan branching enzyme 1), located at chromosome 3 position 81705589: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Adult_polyglucosan_body_disease', 'Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
CTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGAAAAGAAAAGTGGATGGTTGCATCTGTACTGAACACTTAAACAGTCTATTTTTTCTGGTCATTATTCCATAAACAATACAGTATAACAAATATTTATACAGCATTTACATTGTATTGGGTATTGTAAATAATCCAGACATGATTGAAAGTATAAGGGAAGATGTGCCTAGGTTATATGCAAATACTACATCATTTTATACAAGAGACTTAAGCATCCTTGGATTTTGGTATCCACGAGAAGTTGTAGAACAAGTTCCCCATTGACACCGAAGGATTACTGTATTTGCAATGAAAACTTACCATCTTAATTAAGACTTGCTGTACCCAGATTTCAAAGATGTGGTACAAGAAAAGAATGAAATTCTCATCAATAAAATTTACATTGATTAAATATTAAAATGATAATATTTTATATACTAGGTAAATATAATTTATTATTAAATTTTACTCTACTGTTCTCCTTTCACCTTTTTAATATTGTTACTAAAATTTCTGAATTACGTAAGTGGCTTGCATTTTATTTCTGTTGGACAGTGCTGTCTTAGACAATGCATATTAATATAAAACCCAAAGTTCTGTTAAGTCAGGTTCCTTGAAGAATAATTTACATTGCATTAAAATTTGTTCTTTATACATGTACAGTTCTATAAATGTTGATAAATTCATACAATCAGGTAACCAGCACCACAATCAGGATATAAAACATTTTCACCACCCCAAAAATTCCCTCACGTCCCTCTGTAATCAACCTTTACCCACCACCCCAACCCCTGACAACAATGATCTGTTATCTGTCCCCACAGTTTTGCTGTTTCTAAAACGTCATAAAAATTGAATAACACAGCATGTAGACTTTTGAGCCCAGTGAAATCAAATTTTAAATATTATACCATTCTATGGTATTAAAGGATTATGATCATTTTGATATTCCTTTTCCTTGTATCAAGAACCTTTACCAAGGCCTATTTTTTCCAGTTATTCCACTTTCAAAACTGAACTTTCATCCTTGTCATCATTCTAGTAATGTATTTACCCTTCAAGAATAAAACTTAGTAGATTGTATTACAGTTATTTACATTACAGTCCTTCCTCCCACCAGACTCTAAGCTAGAAACCTGACTTTGCTTTCCATAGCGTTAACTCTGTCTAGTGGAGTTAACAGTGCAAATGACAATGCTGACAAGATATTTCCCACTGTGTTCTAAAACAAGGTAAAGGAAAAAAAGAAATGAGTGATGGAGGTTACACCCCAGATTAGATATCTACTTTTACTGAAGACTCCGAAAAGAGTATAAGGCTATACAGAGGATCCAAGAACTATGATGCCAGCCAGCCAGGTGTGAATGCTAGCGGAGCTTTATGCCAATATTTTTACCTGGATTGCTATTGGTTTTGTCAGAGCTTGCTAACAAAGTTAAGTAAATTTGGAGTTGTCTTCCTAATAGCATTTTTCTCATAAACCTTGTTATTTCTAGTACATGATTTTACAGAACATAAAGTCTTTCAAGAATACACATATCACATTATAACAGAAACAGCTGCACCATACAAAGAGCTTAATAAATTCTAAGGCTCTATCTGAAAAGTCTGATATTTATTTGTAATCATTAAAGTTCATATGGTTAAATACATGAAATATAAGAAATATATGTATTAAATAGTTAATAAGATATTACTATTTAGTTCAATGCTTTCAAGTACTTACTAAAATCTCCAGTAAGAAAAACTCCTTCTGCTCCCGGGGCCCATTCTTTGCAGTATAAACCACCATCAGCACATCTGTGGACGCCAAATGATTCATAGCCTCTGGAAAACTTATCAATACCACCTTCATTTTCTCCAATGTTCTTCAAAATTTGGCTAAACTGCTTATACCTTTGAAGAAGTATGAAAGAAAATGAGTTAGAAAATTAAATAGTCTTCTAGAAAAGCTACTGTAATTAAGTAACTGCTTTAGTCTTATTCAGGGAAAAAAAGACATTATTAAAGAAGAATAATATAAATAATTTCATTTATTAGTAGAGGCTACCTGGTAGGATAAAATCATTCTTATTTAAAATAAACTGAGCTAATCTAACTAGCATTTTTTGTAACTTCAAGCACTGGTATGAGAGAGGAAATATGATGGTTATACTATTTCATGAATTTTTTTAAAAACTAGCATTATAGCAACTTCCATGTCAAGACAGTGTAATGGAACAGAATCTCTACATCTCTCTCCTCTGATTCCTAAGAAAATGAAATAACACAGTCAAAATTCAGCAAGAAAAATAAAATTAGCCTACTGCAGGGTTTGGCAAACTTTTCCTGTAAAGGGGCAGACGGCAAATATTTTAGGCTTTGTCAGCCATATGGTCTCTGTCACAGCTACTCGAGGGTGTCTCTGAAGTACGAAAGGGGCCATGGACAAAAAGTTAATGAGTGGGTGTGGCTGTGTTCCAATAACACTTTATTTACAAAAAACAGGTAGTGGGCCAGATTTGGCCTGCAGCCTTTTCCTTCCCTAAAGCAACTAAGCATGTCAAGAACATACACCATATCAAAGCACAAAAGCCAGTGGCCACAAGAAGAAATCACAGATTCCTAAGCAGGGCAAAGAACAGCACATGCCTGCTCCTGACCCTCTCCCAGTTCCCCTGGATCAGGTACTGGTACACCAAAAAGTACTACCCTATTTTCATTAGTATCCCCTATATCCAGTAAGAAACAAACTAGGAAAAACTTGGTAAAACTGGAGAAGTAAACCATGTGCCAGGTGCTCTATGTCAGAAGTGAAGGTTCCAGAACTATACAATGAACTAGGCAATGCCAATAAGCTTCTCTACACCTCCCCATACCCTCAGGGGTAAGGAATCTTTCCCAGAAAGATGGCAGGAATCGAGGCACGGGATGTCCAGGGAATATACAAAATTTGAGATGCAGAATAATGAACCACATCTCAACTTAGCTACATAGAAAATGGACCTTTTTACAAATACTTCACATTATACAACTTAATTAAAAATAAACTCAAAAGAATAAGAGCTGAAAGATTATATGACAACAGAATGAAAAGTAAAAGACTGCAGACTTAAGGAAATAAATGGAGGAATAAAGTATATCAATAGATAATGATGAGTTAGACTCAACAAAAAAAAGTACATAAGTATAGCAAAAATAGCAAATTATTAAATGAATAAATAATTGAGAATTGAAATAATTAAAGAAAAACAATGAATTTGAATATATTAAAAAGAACCTAAGAGATACCCAACATAGACAAAAAAAAATGATCCAAATATGGATATAGCTGCTGACTGAAAAATAAAACCAAATAAAATGAATATGGAAGATATAAAACTGGAAAATTATCCTAAAGAATTAAATCCACATATTAAAAAGAGCATACAATGTTTTAAGAAAGGTTTGGGAAACAAACACACACAAAATGTATCCCAATTTAAGCAACTGAAATTCAAAAGATAAAAGAAATGAGTCTATAGACAACCAGGCAGAAAAAGGCAACATTAATTAAAAACCAAAAGATAAAGCCAACTCCACACAATTCTAAGAAGGAAAAGTAATCTAGGAATATCCTAGGAGACAAGTTTCTATTCATATCTAAGGGATTTTTTTAAATATTGTCAAATTTAAAATTGAGTTTTAGTCAATGACACTAATGAACCATTCTAGAAGAAAAATAAGCTACTTTCCATTTTTCTAAATGGCAATTAAAAATTAAAAACAAACACATACAAGACTGAACAGTTATTGTAGGAGTGTGTCTAAGAACTGACTCCTTAAATATAGAACCTTGGCTAGACAACTGTGGAACTGTATGAATGTGATCATGAAAAAAGGATCTCAACTGACAAAGTAAAAATATTATATTAAAAAAAGGCATGAGTGAAAGGGGGAT
CTTAAGTTATTAATTTAAATTTTAAAAGTGTTATTCAAGTCAGTTACTGGAAACCTCTTAATTTTGTTTGGAAAAAACTGGGTATATGAACATACTTTTAAACTGAAAATTTTATTAAACTTAAATTTAAATTAAGTGCAGTCTGCCCTCAAGTTGCACATCTACTGATTCAACCAATCTTAGATTGAAAATATTTGGAAAAGAAAAGTGGATGGTTGCATCTGTACTGAACACTTAAACAGTCTATTTTTTCTGGTCATTATTCCATAAACAATACAGTATAACAAATATTTATACAGCATTTACATTGTATTGGGTATTGTAAATAATCCAGACATGATTGAAAGTATAAGGGAAGATGTGCCTAGGTTATATGCAAATACTACATCATTTTATACAAGAGACTTAAGCATCCTTGGATTTTGGTATCCACGAGAAGTTGTAGAACAAGTTCCCCATTGACACCGAAGGATTACTGTATTTGCAATGAAAACTTACCATCTTAATTAAGACTTGCTGTACCCAGATTTCAAAGATGTGGTACAAGAAAAGAATGAAATTCTCATCAATAAAATTTACATTGATTAAATATTAAAATGATAATATTTTATATACTAGGTAAATATAATTTATTATTAAATTTTACTCTACTGTTCTCCTTTCACCTTTTTAATATTGTTACTAAAATTTCTGAATTACGTAAGTGGCTTGCATTTTATTTCTGTTGGACAGTGCTGTCTTAGACAATGCATATTAATATAAAACCCAAAGTTCTGTTAAGTCAGGTTCCTTGAAGAATAATTTACATTGCATTAAAATTTGTTCTTTATACATGTACAGTTCTATAAATGTTGATAAATTCATACAATCAGGTAACCAGCACCACAATCAGGATATAAAACATTTTCACCACCCCAAAAATTCCCTCACGTCCCTCTGTAATCAACCTTTACCCACCACCCCAACCCCTGACAACAATGATCTGTTATCTGTCCCCACAGTTTTGCTGTTTCTAAAACGTCATAAAAATTGAATAACACAGCATGTAGACTTTTGAGCCCAGTGAAATCAAATTTTAAATATTATACCATTCTATGGTATTAAAGGATTATGATCATTTTGATATTCCTTTTCCTTGTATCAAGAACCTTTACCAAGGCCTATTTTTTCCAGTTATTCCACTTTCAAAACTGAACTTTCATCCTTGTCATCATTCTAGTAATGTATTTACCCTTCAAGAATAAAACTTAGTAGATTGTATTACAGTTATTTACATTACAGTCCTTCCTCCCACCAGACTCTAAGCTAGAAACCTGACTTTGCTTTCCATAGCGTTAACTCTGTCTAGTGGAGTTAACAGTGCAAATGACAATGCTGACAAGATATTTCCCACTGTGTTCTAAAACAAGGTAAAGGAAAAAAAGAAATGAGTGATGGAGGTTACACCCCAGATTAGATATCTACTTTTACTGAAGACTCCGAAAAGAGTATAAGGCTATACAGAGGATCCAAGAACTATGATGCCAGCCAGCCAGGTGTGAATGCTAGCGGAGCTTTATGCCAATATTTTTACCTGGATTGCTATTGGTTTTGTCAGAGCTTGCTAACAAAGTTAAGTAAATTTGGAGTTGTCTTCCTAATAGCATTTTTCTCATAAACCTTGTTATTTCTAGTACATGATTTTACAGAACATAAAGTCTTTCAAGAATACACATATCACATTATAACAGAAACAGCTGCACCATACAAAGAGCTTAATAAATTCTAAGGCTCTATCTGAAAAGTCTGATATTTATTTGTAATCATTAAAGTTCATATGGTTAAATACATGAAATATAAGAAATATATGTATTAAATAGTTAATAAGATATTACTATTTAGTTCAATGCTTTCAAGTACTTACTAAAATCTCCAGTAAGAAAAACTCCTTCTGCTCCCGGGGCCCATTCTTTGCAGTATAAACCACCATCAGCACATCTGTGGACGCCAAATGATTCATAGCCTCTGGAAAACTTATCAATACCACCTTCATTTTCTCCAATGTTCTTCAAATTTGGCTAAACTGCTTATACCTTTGAAGAAGTATGAAAGAAAATGAGTTAGAAAATTAAATAGTCTTCTAGAAAAGCTACTGTAATTAAGTAACTGCTTTAGTCTTATTCAGGGAAAAAAAGACATTATTAAAGAAGAATAATATAAATAATTTCATTTATTAGTAGAGGCTACCTGGTAGGATAAAATCATTCTTATTTAAAATAAACTGAGCTAATCTAACTAGCATTTTTTGTAACTTCAAGCACTGGTATGAGAGAGGAAATATGATGGTTATACTATTTCATGAATTTTTTTAAAAACTAGCATTATAGCAACTTCCATGTCAAGACAGTGTAATGGAACAGAATCTCTACATCTCTCTCCTCTGATTCCTAAGAAAATGAAATAACACAGTCAAAATTCAGCAAGAAAAATAAAATTAGCCTACTGCAGGGTTTGGCAAACTTTTCCTGTAAAGGGGCAGACGGCAAATATTTTAGGCTTTGTCAGCCATATGGTCTCTGTCACAGCTACTCGAGGGTGTCTCTGAAGTACGAAAGGGGCCATGGACAAAAAGTTAATGAGTGGGTGTGGCTGTGTTCCAATAACACTTTATTTACAAAAAACAGGTAGTGGGCCAGATTTGGCCTGCAGCCTTTTCCTTCCCTAAAGCAACTAAGCATGTCAAGAACATACACCATATCAAAGCACAAAAGCCAGTGGCCACAAGAAGAAATCACAGATTCCTAAGCAGGGCAAAGAACAGCACATGCCTGCTCCTGACCCTCTCCCAGTTCCCCTGGATCAGGTACTGGTACACCAAAAAGTACTACCCTATTTTCATTAGTATCCCCTATATCCAGTAAGAAACAAACTAGGAAAAACTTGGTAAAACTGGAGAAGTAAACCATGTGCCAGGTGCTCTATGTCAGAAGTGAAGGTTCCAGAACTATACAATGAACTAGGCAATGCCAATAAGCTTCTCTACACCTCCCCATACCCTCAGGGGTAAGGAATCTTTCCCAGAAAGATGGCAGGAATCGAGGCACGGGATGTCCAGGGAATATACAAAATTTGAGATGCAGAATAATGAACCACATCTCAACTTAGCTACATAGAAAATGGACCTTTTTACAAATACTTCACATTATACAACTTAATTAAAAATAAACTCAAAAGAATAAGAGCTGAAAGATTATATGACAACAGAATGAAAAGTAAAAGACTGCAGACTTAAGGAAATAAATGGAGGAATAAAGTATATCAATAGATAATGATGAGTTAGACTCAACAAAAAAAAGTACATAAGTATAGCAAAAATAGCAAATTATTAAATGAATAAATAATTGAGAATTGAAATAATTAAAGAAAAACAATGAATTTGAATATATTAAAAAGAACCTAAGAGATACCCAACATAGACAAAAAAAAATGATCCAAATATGGATATAGCTGCTGACTGAAAAATAAAACCAAATAAAATGAATATGGAAGATATAAAACTGGAAAATTATCCTAAAGAATTAAATCCACATATTAAAAAGAGCATACAATGTTTTAAGAAAGGTTTGGGAAACAAACACACACAAAATGTATCCCAATTTAAGCAACTGAAATTCAAAAGATAAAAGAAATGAGTCTATAGACAACCAGGCAGAAAAAGGCAACATTAATTAAAAACCAAAAGATAAAGCCAACTCCACACAATTCTAAGAAGGAAAAGTAATCTAGGAATATCCTAGGAGACAAGTTTCTATTCATATCTAAGGGATTTTTTTAAATATTGTCAAATTTAAAATTGAGTTTTAGTCAATGACACTAATGAACCATTCTAGAAGAAAAATAAGCTACTTTCCATTTTTCTAAATGGCAATTAAAAATTAAAAACAAACACATACAAGACTGAACAGTTATTGTAGGAGTGTGTCTAAGAACTGACTCCTTAAATATAGAACCTTGGCTAGACAACTGTGGAACTGTATGAATGTGATCATGAAAAAAGGATCTCAACTGACAAAGTAAAAATATTATATTAAAAAAAGGCATGAGTGAAAGGGGGATN
pathogenic
71,445
Is chromosome 3, position 81761447, gene GBE1 (1,4-alpha-glucan branching enzyme 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Glycogen_storage_disease,_type_IV', 'Glycogen_storage_disease_IV,_classic_hepatic']
GACTGGTTATGTATTTGTGTTAGGCCAAAGACACACAGTCCAAATGGATTATCAGAAATAAATGGAAAATTGGACAAGGAACTAAGACCAGATTGTATGAAGGAAAAATGTTTTATTCTTCAAGTGTTAACAATAGAAGTTACCACTAACAAATGCCAAATTACTATTTGATATGCCTAAATGGAACATGTATGCTAGCAAATGGCCATTACTCAGAACCAAGGACAAAAGTAAAATCCGGGTCAGAGTGAGGCATGAGGGCCCACTGGACGAGACTTTTCACCAAGCACACTGGATTCTCTTCCCTTCTTTATCTTGGCCTTTGTTCCCTTCATTAGTTTTGGCAAACCATGAAAGAAGATTATAAATGCTTCAATCCCAGTGGAGTTGGAAATAAAGTACATGAAAGAAACACTTAATAAAGAATGTTAATCTGTTTGTGTCATTTAAAAAAAAAAGGAAGGGGGTGTAGATAAAACATTTCCACAACTCTTCTTTAATAAATATCTTAAGTGTCCTTTTACAAAGCACACAGGTAAATTAATGTCATGGTTACAAGGACATCAAAAAAAAAATCTAACCACTACCTTTAATCACTATCTTTTGTTCTAAATTTTTTCTGACTATTTCTAAATCAAATCCAACCTTAAACCTATGACGATTATGCACTAAGTTTCTCTGAAAGCATATACTGTAAATTCTGAAAACAATTTCACAAGGCTGCTCCTCATATGGTTTATATAAGAGCATAATCATCTGATTAAGTGAGGGACAGCTCAAGGTGATTATTTTACAGAGGCCTCATTCACTACTATATACAAGCTCAAGAATGAAACTTCACATCCCTTACAATCCCTAGAGCAGTGTTTTATTTATAGGAGTTCCTCAATAAACACTTGCTGATTTGAATGCATTTAATACCTGAAAATGCTAGGACACAAACAATTTGCTGGGCTTTTTTCAAACTCCAAATCAACCCATTTTCATTACTCTCAACGCTCCTTCATGCCAGTTAACTAGTTGGATGTTTTCCATCACTCGAAAAATTGGCCATGTATATTCTGTTGCCAGGATAGTTTCCATTCTGCAGTGTCTCTCCTAAAAGGGGAGAAACTATTAAATCAAAATGGGGTAACCTCACAAGTATAACTATTACAACTTGTATAATAGCTCTTTTACTTCAAACAACAACGACAACAGAAAAAGACCTGTACCTTTTTAGTGGAACTTATGAATAGAATTATTAGCCCAGTAACTAAAGTTGTATGGTACACAATGGTAGAAGACAAGCTAAAACGACATTGGCCTGTAAAAGTTGCTTTCCTGACCTTTCTCCCTCTTCAAGATGGTTAAAGTCACACACGGACAAATGTTGATGTACATTTAACTTCTCAATGTTGATCCAAGGGGAGAAAAAATTGATCAATGTAGGTGTAATCTTCCCCTAAATGAGGAATATTAGCAAGGAAAAAACAAAAGGATATAGTGTCTGCCTGAAGGAATCCTCTTAGATATAAAATCACAACATTTGCTATGAAATAAACTAGAAAGTTTTAAATGCGTAATTACACGTGCCAGGAGTTATGCCCACGTTACTCCACAGGCCCACGCTAGTGGGTGCCAAAGTCAGAAAACCTGCAGCGGCGGTGAGTCACTCCCCAGCAGCACTCTGGGGAATAAGTGTTGGAGCCACAGCACGTACCCTATGGCGCAAGACCGCTGATTAGAACAGAGGGGAAAGGGGATGAGGAAAGAAGTTTCTTCAGCGCCCGCTCCGGGCACCAGCGCTGTCAAACCTGCCACTACGGAAGCCACAGAACCCGGTTACCCGAGTCACCCCGAGCCCCGCCCACTCAGGTTCCTCCCCGCCTGGGGCGGGGTTGGCGCGCGAGGGCCGAGGGGCGGCCCGTGTCCCGAGACGGCTCCTGGGAGGCGGGCTGCCTGTCTAAGTGGGGGTGGTGGGATTCCGGCGGTACCTGCGCTGGAAGTCCACGGCGTAGGGCTTCAAGTACGGGTCGATCTCCAGGAGTCTGGCCAGTTCGGGCACGTCAGCCAGGGCGGCATTGAGCGCCGCCTCGTAGTCCTCGGGCCGAGCCGCGGGAGTCATCGGAGCCGCCATATTCCGCCGCAGTCCAAGTAGCCGAGGCCCGAGAGGTCGAGTGGGGCCTGAGCGGGCGCTGGAGCTCTAGCTGGGACGCGGCGGCTAGGGCGGAGCCGGAGGGCGCCTAGGCGTGTCGAGGCAAGCCGAGGCGAGCCGCGGCGGTCCGGGGCCCTTTATAGCCGGGACGGAAGGCCTCCTGCCCTTTCTCCCCCCGCCAGCGGGGAGGAGCGGATCCCGGGGTGATGCCGGGACGCACGTCCGGAGCGGGTAGGAGGCACCGAGGCCTCTCCGCCCACTCACGCGGCTGGCACCTGGAGGCCGCAGGGACCTGCCCTTTCCTCCCCTTAACGGTTTTTTCCTGCTGGCGGAGGTCATTCTAGGAGGTGGGTCCCAAGCTGACCTCGCTCAGCCTTGGCCTTCCTCACCCTGACATATTCTTGGCTTTTCTTTACCCACTTAAGCACCCACTGACAGCGACCCCTTCAAATTGGACATAAGGGGTTTTTTTGGAAAGGACCGTATTTCTCAAAGTTCTGAGACTTTTGAGGGGCAGTATTTCAAACATATCATGTAAATTCACAGAGAGGGGAACAGTCAAGTGTAGCTAGAGTACTACTGCTGAAAATGTTAATACCTCTTACAACCAGGACTCTCCTAAGTTTGCCAGGTCACGTGAATTTAAAATTAACCAAGACACAGAATCCTGGAATACCGTTGGAATTCTGCTGTTCTGGTACTCTTTTCTGCATTACCAACAGCTAAGAATTTTAGCCATGGGAAGAACTTTTCTCATTCTCCGTAAGGCCAAAAAGGAAAAGGCATTTGCCTGTGTTTATAATTGTTAACAAGCTTTTCAACGATTAAACTACCTTTGATAACACAAATGATATCATTGAATTGGAACTCCACTCTGCCACTTACAGTGATAAGGCAAGAAACCTCTCTTCCTCTTGGCTTGGGAAGCTCCCACTTGGAATTCCCTTCTTTTATTGCCATTAACTGACTAGCTTCTATTTCAATAATTGCTTTTTAGGAATACAGAGTTGGACTCCAAGAGAGATGGACCCACCAAACCCAGGAGGGTCCAAGCTGCTTTACACCTAGAAACTAGAGAGGATTGAGGATATTTTTCTTGTTAAAACCCAGAACTGGAGGATCCTAGGGGTTATGGAGGAGAAACAGTATTAATCAGCCGTGGGCCTTGAATTTTAAAATATTTCAAAGGAAAGTTTTTATAAGGGGTTTCATAGACTTGAAAGATAAGTGGATATGAAGACAGACCTCAGTGTGAAAAAGTGAAGGACTTGAACGACTTTAAGACGTGCCTTGTTTTCCATAAAGATGACAAAAAACTGCTGCAGACATTTGTAAAATATAAAGCACTAAAAAAGGAAGAAAATTAAAAAAAAATAAAAACCCGAAGCAGGACAACTATTAATAACAGACCCACAGATCTACATCTCCAAGCCTAAACTTTTTTCAGAAACCCAGGCTTGTATCACTGCCTGTCTACTGAGATTTCCATTTAGCTGGCTAGGAGACCTAAACAAACTGTCTGCAAAACGTGACCTAGAATCCGTCTTCTCATCCTTCCTGCTGTCACTCTTATGCAGGCCACTGTTTTCCTTCACTTGGACCAGAATGTAGCTCTCTAACTGACTTCCCCTCTTCTACTCTTTCTCACCTCTACTCCATTCTCTGTACCAGTGTTTCTCACACTTTAATGTGCATATGAATCACCTAGGGATCTTAATTGAGTTCCGATGTGGTGCTTCAGATTGCATTTTTAACAAGCTCAGAAGTGATTCTGATGCTGGTGGTTGGGGACACAGTTTGGTGAGACTCTACACTGAGTAAATCAGACGATGTCATTTAGCAACTTAAATAGCATAGTATTTCACTTAGGGTAAAATAGAAACAGCTTATCATTCTCTAACAAGGCTTGTATAATCTGGACCCTGACTACCTTTCCAGCCACTTTTCTCATCATTTTCC
GACTGGTTATGTATTTGTGTTAGGCCAAAGACACACAGTCCAAATGGATTATCAGAAATAAATGGAAAATTGGACAAGGAACTAAGACCAGATTGTATGAAGGAAAAATGTTTTATTCTTCAAGTGTTAACAATAGAAGTTACCACTAACAAATGCCAAATTACTATTTGATATGCCTAAATGGAACATGTATGCTAGCAAATGGCCATTACTCAGAACCAAGGACAAAAGTAAAATCCGGGTCAGAGTGAGGCATGAGGGCCCACTGGACGAGACTTTTCACCAAGCACACTGGATTCTCTTCCCTTCTTTATCTTGGCCTTTGTTCCCTTCATTAGTTTTGGCAAACCATGAAAGAAGATTATAAATGCTTCAATCCCAGTGGAGTTGGAAATAAAGTACATGAAAGAAACACTTAATAAAGAATGTTAATCTGTTTGTGTCATTTAAAAAAAAAAGGAAGGGGGTGTAGATAAAACATTTCCACAACTCTTCTTTAATAAATATCTTAAGTGTCCTTTTACAAAGCACACAGGTAAATTAATGTCATGGTTACAAGGACATCAAAAAAAAAATCTAACCACTACCTTTAATCACTATCTTTTGTTCTAAATTTTTTCTGACTATTTCTAAATCAAATCCAACCTTAAACCTATGACGATTATGCACTAAGTTTCTCTGAAAGCATATACTGTAAATTCTGAAAACAATTTCACAAGGCTGCTCCTCATATGGTTTATATAAGAGCATAATCATCTGATTAAGTGAGGGACAGCTCAAGGTGATTATTTTACAGAGGCCTCATTCACTACTATATACAAGCTCAAGAATGAAACTTCACATCCCTTACAATCCCTAGAGCAGTGTTTTATTTATAGGAGTTCCTCAATAAACACTTGCTGATTTGAATGCATTTAATACCTGAAAATGCTAGGACACAAACAATTTGCTGGGCTTTTTTCAAACTCCAAATCAACCCATTTTCATTACTCTCAACGCTCCTTCATGCCAGTTAACTAGTTGGATGTTTTCCATCACTCGAAAAATTGGCCATGTATATTCTGTTGCCAGGATAGTTTCCATTCTGCAGTGTCTCTCCTAAAAGGGGAGAAACTATTAAATCAAAATGGGGTAACCTCACAAGTATAACTATTACAACTTGTATAATAGCTCTTTTACTTCAAACAACAACGACAACAGAAAAAGACCTGTACCTTTTTAGTGGAACTTATGAATAGAATTATTAGCCCAGTAACTAAAGTTGTATGGTACACAATGGTAGAAGACAAGCTAAAACGACATTGGCCTGTAAAAGTTGCTTTCCTGACCTTTCTCCCTCTTCAAGATGGTTAAAGTCACACACGGACAAATGTTGATGTACATTTAACTTCTCAATGTTGATCCAAGGGGAGAAAAAATTGATCAATGTAGGTGTAATCTTCCCCTAAATGAGGAATATTAGCAAGGAAAAAACAAAAGGATATAGTGTCTGCCTGAAGGAATCCTCTTAGATATAAAATCACAACATTTGCTATGAAATAAACTAGAAAGTTTTAAATGCGTAATTACACGTGCCAGGAGTTATGCCCACGTTACTCCACAGGCCCACGCTAGTGGGTGCCAAAGTCAGAAAACCTGCAGCGGCGGTGAGTCACTCCCCAGCAGCACTCTGGGGAATAAGTGTTGGAGCCACAGCACGTACCCTATGGCGCAAGACCGCTGATTAGAACAGAGGGGAAAGGGGATGAGGAAAGAAGTTTCTTCAGCGCCCGCTCCGGGCACCAGCGCTGTCAAACCTGCCACTACGGAAGCCACAGAACCCGGTTACCCGAGTCACCCCGAGCCCCGCCCACTCAGGTTCCTCCCCGCCTGGGGCGGGGTTGGCGCGCGAGGGCCGAGGGGCGGCCCGTGTCCCGAGACGGCTCCTGGGAGGCGGGCTGCCTGTCTAAGTGGGGGTGGTGGGATTCCGGCGGTACCTGCGCTGGAAGTCCACGGCGTAGGGCTTCAAGTACGGGTCGATCTCCAGGAGTCTGGCCAGTTCGGGCACGTAGCCAGGGCGGCATTGAGCGCCGCCTCGTAGTCCTCGGGCCGAGCCGCGGGAGTCATCGGAGCCGCCATATTCCGCCGCAGTCCAAGTAGCCGAGGCCCGAGAGGTCGAGTGGGGCCTGAGCGGGCGCTGGAGCTCTAGCTGGGACGCGGCGGCTAGGGCGGAGCCGGAGGGCGCCTAGGCGTGTCGAGGCAAGCCGAGGCGAGCCGCGGCGGTCCGGGGCCCTTTATAGCCGGGACGGAAGGCCTCCTGCCCTTTCTCCCCCCGCCAGCGGGGAGGAGCGGATCCCGGGGTGATGCCGGGACGCACGTCCGGAGCGGGTAGGAGGCACCGAGGCCTCTCCGCCCACTCACGCGGCTGGCACCTGGAGGCCGCAGGGACCTGCCCTTTCCTCCCCTTAACGGTTTTTTCCTGCTGGCGGAGGTCATTCTAGGAGGTGGGTCCCAAGCTGACCTCGCTCAGCCTTGGCCTTCCTCACCCTGACATATTCTTGGCTTTTCTTTACCCACTTAAGCACCCACTGACAGCGACCCCTTCAAATTGGACATAAGGGGTTTTTTTGGAAAGGACCGTATTTCTCAAAGTTCTGAGACTTTTGAGGGGCAGTATTTCAAACATATCATGTAAATTCACAGAGAGGGGAACAGTCAAGTGTAGCTAGAGTACTACTGCTGAAAATGTTAATACCTCTTACAACCAGGACTCTCCTAAGTTTGCCAGGTCACGTGAATTTAAAATTAACCAAGACACAGAATCCTGGAATACCGTTGGAATTCTGCTGTTCTGGTACTCTTTTCTGCATTACCAACAGCTAAGAATTTTAGCCATGGGAAGAACTTTTCTCATTCTCCGTAAGGCCAAAAAGGAAAAGGCATTTGCCTGTGTTTATAATTGTTAACAAGCTTTTCAACGATTAAACTACCTTTGATAACACAAATGATATCATTGAATTGGAACTCCACTCTGCCACTTACAGTGATAAGGCAAGAAACCTCTCTTCCTCTTGGCTTGGGAAGCTCCCACTTGGAATTCCCTTCTTTTATTGCCATTAACTGACTAGCTTCTATTTCAATAATTGCTTTTTAGGAATACAGAGTTGGACTCCAAGAGAGATGGACCCACCAAACCCAGGAGGGTCCAAGCTGCTTTACACCTAGAAACTAGAGAGGATTGAGGATATTTTTCTTGTTAAAACCCAGAACTGGAGGATCCTAGGGGTTATGGAGGAGAAACAGTATTAATCAGCCGTGGGCCTTGAATTTTAAAATATTTCAAAGGAAAGTTTTTATAAGGGGTTTCATAGACTTGAAAGATAAGTGGATATGAAGACAGACCTCAGTGTGAAAAAGTGAAGGACTTGAACGACTTTAAGACGTGCCTTGTTTTCCATAAAGATGACAAAAAACTGCTGCAGACATTTGTAAAATATAAAGCACTAAAAAAGGAAGAAAATTAAAAAAAAATAAAAACCCGAAGCAGGACAACTATTAATAACAGACCCACAGATCTACATCTCCAAGCCTAAACTTTTTTCAGAAACCCAGGCTTGTATCACTGCCTGTCTACTGAGATTTCCATTTAGCTGGCTAGGAGACCTAAACAAACTGTCTGCAAAACGTGACCTAGAATCCGTCTTCTCATCCTTCCTGCTGTCACTCTTATGCAGGCCACTGTTTTCCTTCACTTGGACCAGAATGTAGCTCTCTAACTGACTTCCCCTCTTCTACTCTTTCTCACCTCTACTCCATTCTCTGTACCAGTGTTTCTCACACTTTAATGTGCATATGAATCACCTAGGGATCTTAATTGAGTTCCGATGTGGTGCTTCAGATTGCATTTTTAACAAGCTCAGAAGTGATTCTGATGCTGGTGGTTGGGGACACAGTTTGGTGAGACTCTACACTGAGTAAATCAGACGATGTCATTTAGCAACTTAAATAGCATAGTATTTCACTTAGGGTAAAATAGAAACAGCTTATCATTCTCTAACAAGGCTTGTATAATCTGGACCCTGACTACCTTTCCAGCCACTTTTCTCATCATTTTCCN
pathogenic
71,453