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
Clinically, how would you classify the variant at chromosome 3, position 48595089, gene COL7A1 (collagen type VII alpha 1 chain): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Dominant_dystrophic_epidermolysis_bullosa_with_absence_of_skin', 'Epidermolysis_bullosa_dystrophica', 'Epidermolysis_bullosa_pruriginosa', 'Generalized_dominant_dystrophic_epidermolysis_bullosa', 'Nonsyndromic_congenital_nail_disorder_8', 'Pretibial_dystrophic_epidermolysis_bullosa', 'Recessive_dystrophic_epidermolysis_bullosa', 'Transient_bullous_dermolysis_of_the_newborn']
GCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCTCGCACTCGGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGAGGAGTGGACAGGTTCCTGCAGAGCCACAAGGCAGCAGCGCCGTGGGGGGTGGGGCTGCAGTTGGGGATGACTCACCCCCAATCCAGTGGGGGTGCCCAGACAAGCCCTCAGGCCATGGGTCCCGCCGGCCACTCCTGTGATTCAGCCATCTGTCTGGTGGGCCTCCTGGGCCCCACCCGGATCTCCTTGACAGGCAAGAAGCCCTGGCAAATGAGTGACTCTGGGCCGGTCTTAGGGAAACCAAGGTCCCCTTGGCCTGGATCCAAGTAACTCACCCCCTCTTTGTAGGGGATAAGCCGGAAGGAGGAGAGAACCTGTGTCATGCTTATGCATACATCCCAGTGTCCCACATCCCCTACCATGTCACAGGCAGATGCAATCCAGCTGTGCCTGCAGGGAGGGGGCCGCCCATCTGTGGAGGGCGGGACCACCCACAGTGACAGCTCATCTCTCAGGAATCGAGCCCTCCATGCCCCAGGCCAGGTCCCCCTACCTACATGTCCTCACCCACAGGCATCCTCTCCTTCCATCTACTTTTCTTGTAGGTCCCTGCCACCCATCTCCCCTACCAGGCCGAGGTCCCCTTGGGCCCCTTCCTCCTTTCCTCACTGCCCTCATGGTACCTGTAGCTTCCAGCTTCATAACTGCCCCCTACCTTACTCCTGTCCCCTTACCCAGGCTGACTTCACACCCTCCCCCAGCTTCGCTTCTGAGGCTGTGGACAGTCCTCCAACACACACCACGCCAGGGCCACTGTCCGAAGGAGGTGGGGCTCTGTATATGCATATCTCTCCATTAGATGGGTGACACTAAGGCAGAGAGGCACTGCTAAGAAGGGCAGGCCCCCATCTGGGTCCTGCTCCCCCTTTTTTTCCTGCTAATCCTGAATAACTCTGGGCAGCCCAGAAAGCACATCTATACTCACCAAGGCTGCTGGGCCCCTTCTAATATGCCCGGCCCCACAGCCTCCCCTGGGATCCACAGGGAGATATGGGGACAGCACTGGCTGGACTCCTCCACAGCCCGAGGACTCTGGTGTGGCCAGAGCTGGAGGCAGTGAAGACCATCCATGCTGCCTGCTTTCCTATTGCCCAAGGAAGGCTGGGGCTCTATCCCTTATTACTGACCCCCCAAACTATCCTGGGGCATAGTGCTATGACCTTATTCCAAGGTCAGGGTCTCCTCAGCCATGTCCCAGGACCCCCCATCCCTGCAAGGTGTGCTCCAGGTGGGGGGCTGCAGAGAACCAGGTATGTTATCACACAGGCAGCCCCTTCCCCCTAAGACTGTCACCTCCTCCCGTGCAGCCAGGGCGGGCAAGAGCAGGCCAGTGGCATGGACAGTACGGTACAGACATATGTGCACACGTGGGCCAGTCTTAGGGGAGACAGGAGGCCCAGCTGGGAGGGTGGGTGCTCAGGCAAACCTCATCAGAATTGAGGTGCCTCCAAAAGAAAGGACAGGCTGCTGTGAGAGGGTCTCTCAAAGGGTGCTGGGAGAGGCTGTTGAGAAGGTAGGAGTAAGGTTGGAATGACTCCACGTCTGGAGCTT
GCCAAGTGGGGATTGGGGTCCGGGGTCTAGGTCAGGGTACACCGTGTGGGCAGGAACTCACGAGGTCGGGTCACAGGCACGCCACCAGCAGTCGTGCACACTCTCCGGGAAACGAGGGGCAGTAGTGTCCTCAAGATGCTGAAGTCATTGACGAAGAAGAAGAAGTCACTGGTGGGCTGTGAGGCAACTCGCTTCAGCTCCTCAGGGTCAGCATTCTTGATCCCTGAAGTGACGACCCATCAGGACTCAGTCACCCACATGCTCTCTGACTGCCCCCACCCCCCAGCTGACCTGTCACTCCTGCTCGGTCCTTACCCACAGCAAATAGCTTGACCCCCTGCCCCTTCAGCCTTTGGGCAGCTGTGTCCACCAGGTCCTGGGACTTCCCGTCTGTGATCAGGATGCAGACCTGGGACAGGTGCAGGGGTCAAATCACGGTTCCCCTGGACACTTCATTTGGGGTCATCTTGGGAGGCATGGTAGGGGTAGGGATCACCTTGGGGACACCAGGTCGGGCCAGCTGGGGCAGGAAGACATGGTCAGCCACATGGAGAATTGCAGCCCCTGTGCGAGTGTTGCCCCCCTTGTAGCTAAGCTCACGGATGGCGCGGATCACATCACCCCCAGAGCCAAGTGCATCCAGGCCGAACTCTGTCCTGTTGGAGGGTAGGGGTGGCAACAGGCTAGGACTCAGGATCTCTTCTGGCCCTGGCCTTGAGGAGGCCTCTAGGGTGAGGGTTACGGGTATCAGGCTCTCTTGAGGGGTCCCTTCGTTCTGTCATTCTCCACACCCACTTGCCTCTGGAACCCCCAGGTTAACAAACTCCCCAGGGGCTCCTTTGTGCACCATCTGCAGGTGGGCCTGGGCAGACCTGAAGGAGCCCTTAGGGGCTCACAGTCTGTGGGGAACAAGATGCTGCTTAATTAAATAATTGCAGGAGGAGGGGTCCAGATGTAGGAAAGTGGATGCTGGCCAGATGGAGCACCTCTGGTGAACGGCTGCAAGGGTTAGAGGGCTAGAACGTGGAGAATCCAACAGGCGTGGGGGCCCCCTCCTGGGCTCCCCATCTCCAGATCAGAAAACACAGCCTCACTGTCTTGCACCTTCCTGTCTTGCAGTAGCCTGGAGGTGCCTCAGGGCACGAAGGTTCTACCTAGGGAATCCTTACCTCTGTCTCCAAAGGAGGTCCTGGCTAGGGGGTCTCTAGGTTCCCCAAAACTTGTTTCTGCAAAGACCTGGCCTGGGGTTTCCAGGGTCTCCTCCCTCTCTGGGGAAGGAGTCTTGGTGGGGATCTCGTGGTCCCCAGCCCCCAGGGCCCCTACTCACCGTGGGTCATCGCTGTACTGCACTGTGGCAAAGCGCACACCCTGTGCACTGGCTGCTCCAGAGAAAGGCAGCACCAGCCCTTCGAGAAAGCTGCGGACCTCGCGGAAATTGCTGCGGCCAATGGATGAGGAGCCATCCAGTAAGAACACAATGTCAGCGGCGTAAAGGCGCGTGCAGGTCACTGGGGCGGGCAGGAGAGATCAGGGCCTCTTCTGGGAGGCCAACCACCCGCCTACCCGCACGGTGGCCTCACTGGGACTTGGGATGGTGGGGAGAGTAGGCCTCATCTTATGCAAACCAGGGCCGAATCGGCCTGAGCCTGAGGGCCTTGGAGGGAGTTGAGCTCGGTGGGTCCCAGAGCAGACTCCCGCGGAGGGTTGGGGGTGTGCGGGGGAGGGAGAGTCGCCAGCACGGGTGTGGACTTGGGACTGAGGTCAGCCTCTAGGGGCCGGCGTGGATTGGCATAAGGCAGGGGACCCCGCACGCATCCAGGGAGCCAGAATTTGGGTAGGAACAGGATAGGAGGCGGTTTAGGGAACCCAGCACCGATCGCGGAGGGTTCGGGGAGTCCCAGAATTAGGAGGAATCCGCGGGGCGTCGTGGAGTTGGCTGGGTTGTGGGCGGGGGGTGTTGGGGATGAAGGCCGAGTGGAGCGGAGGGTGGCACGGTGCAGTGCCCCGGGCCGGGTCCTCCCTTGCGGTGCCCACCTCTCTCCCTGTGCTGGGCGCCTCTGCCAGGATCCCGGCGCAGAGCGCGGCCACCAGAAGCCGCAGCGTCATCCTAGGCAGTAAAAGCCGTCAGCTAGGACCCCCGCCTCTGTCCCTTGCTCCCCCGTGGCCTTGGCAGGTCCGAGCCCAGCGCCCCTCCAGCCCGAGTCCTGGTCTTGCCTGCGCGTCCGCCCGCTCCCGCCGCCGCCGCTGCAGTCTCTCGGGCAGAGCAGAGAAAAGTCCCTGATCTCGGGGGGCGGAGCGGCAGGCGGGAACCCAGGCACCCGCCCTCACCCATATCCCTGAGAGGTCGCCGCCCCCCCCACCCCTCCCCCAGACAAACGATATGACGCACTTAACTATAAACCCCCCGACCCCCCGTGGCTTCTGGGAATTTCCCAGAAGGTTCTGCATGGGCAGATGCTGAGGGAGTACCCCTAACTCCATCTAAGGTCACAGGTCTTGGCTGCTTTAGGTCAATCACAGTGACCAGGCTGAGGAGTGGACAGGTTCCTGCAGAGCCACAAGGCAGCAGCGCCGTGGGGGGTGGGGCTGCAGTTGGGGATGACTCACCCCCAATCCAGTGGGGGTGCCCAGACAAGCCCTCAGGCCATGGGTCCCGCCGGCCACTCCTGTGATTCAGCCATCTGTCTGGTGGGCCTCCTGGGCCCCACCCGGATCTCCTTGACAGGCAAGAAGCCCTGGCAAATGAGTGACTCTGGGCCGGTCTTAGGGAAACCAAGGTCCCCTTGGCCTGGATCCAAGTAACTCACCCCCTCTTTGTAGGGGATAAGCCGGAAGGAGGAGAGAACCTGTGTCATGCTTATGCATACATCCCAGTGTCCCACATCCCCTACCATGTCACAGGCAGATGCAATCCAGCTGTGCCTGCAGGGAGGGGGCCGCCCATCTGTGGAGGGCGGGACCACCCACAGTGACAGCTCATCTCTCAGGAATCGAGCCCTCCATGCCCCAGGCCAGGTCCCCCTACCTACATGTCCTCACCCACAGGCATCCTCTCCTTCCATCTACTTTTCTTGTAGGTCCCTGCCACCCATCTCCCCTACCAGGCCGAGGTCCCCTTGGGCCCCTTCCTCCTTTCCTCACTGCCCTCATGGTACCTGTAGCTTCCAGCTTCATAACTGCCCCCTACCTTACTCCTGTCCCCTTACCCAGGCTGACTTCACACCCTCCCCCAGCTTCGCTTCTGAGGCTGTGGACAGTCCTCCAACACACACCACGCCAGGGCCACTGTCCGAAGGAGGTGGGGCTCTGTATATGCATATCTCTCCATTAGATGGGTGACACTAAGGCAGAGAGGCACTGCTAAGAAGGGCAGGCCCCCATCTGGGTCCTGCTCCCCCTTTTTTTCCTGCTAATCCTGAATAACTCTGGGCAGCCCAGAAAGCACATCTATACTCACCAAGGCTGCTGGGCCCCTTCTAATATGCCCGGCCCCACAGCCTCCCCTGGGATCCACAGGGAGATATGGGGACAGCACTGGCTGGACTCCTCCACAGCCCGAGGACTCTGGTGTGGCCAGAGCTGGAGGCAGTGAAGACCATCCATGCTGCCTGCTTTCCTATTGCCCAAGGAAGGCTGGGGCTCTATCCCTTATTACTGACCCCCCAAACTATCCTGGGGCATAGTGCTATGACCTTATTCCAAGGTCAGGGTCTCCTCAGCCATGTCCCAGGACCCCCCATCCCTGCAAGGTGTGCTCCAGGTGGGGGGCTGCAGAGAACCAGGTATGTTATCACACAGGCAGCCCCTTCCCCCTAAGACTGTCACCTCCTCCCGTGCAGCCAGGGCGGGCAAGAGCAGGCCAGTGGCATGGACAGTACGGTACAGACATATGTGCACACGTGGGCCAGTCTTAGGGGAGACAGGAGGCCCAGCTGGGAGGGTGGGTGCTCAGGCAAACCTCATCAGAATTGAGGTGCCTCCAAAAGAAAGGACAGGCTGCTGTGAGAGGGTCTCTCAAAGGGTGCTGGGAGAGGCTGTTGAGAAGGTAGGAGTAAGGTTGGAATGACTCCACGTCTGGAGCTTNNNNNNNNNNNNN
pathogenic
68,298
Is the genetic change at chromosome 3, position 49033201, within gene QRICH1 (glutamine rich 1) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Intellectual_disability,_mild', 'Ververi-Brady_syndrome']
ATTTTTGTATTTTTTAGTAGAGATGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTTGGATTACAGGCGTGAGCCACGGTGCCCAGCCTCATGTTGTGTTTTCTACCCAATAATGATGGCCATTACAGTGGGGCCCTAAACTTGGGTTCACCCCCCTCCCCCGAACTGTGCTGTACCTCTATTAAGTACTTGGCATGCTGTATCCTCTAACAGTTATTCATCCATCCATTCAAGATTTATTCAAGGGTTACTAGTGCCAGGTCAGCACTAGGTGCTGATATTTAAAAAAATGGGCAGGAAAAGTATTTCCTACCCATGGAGCTTACAGATAGGAGGGGACACAGGTAGCAATTAAAGTTAAACAAATACAAAATAAAAAACAGTGATAAGTGCTACCGAGGAAACAGTCACAGGGAAGAGGTGGGGAATCTGGAAATGCTTCCCTGATAAGCTGTGTTTAAGTTGAGAAGAGGCATAATATGATGTCCTTGAGTGGAGAGGAGCTAGTGTGGCTAGGGAACTAAGAGCTCCACAGACATGAGGTTAGCAAGGGGGAGTGCATCAAAGGAGTTGTCTGCCATAAAAGAATTACTATGTAATGAGAAACCATTGAAGGGGCAAAAGGGAGAAAAAGCTGAGAGGAGTCTCACCTAGATTAATGATGGCAGTGACAAAAGGTCAAGGTCAGGAAGCAGGGCCATGCTCAATATGTGATGAAGGTAGATTCTCTGTACCTTCATACCCTTTTCATGAAAGGTGACTGTAGGGACCCGGGACCCCTTTTTCTATCAGTGCTAGGCACATCACACACCTTTGGAAAGCCAGAGCAAGGCTGCTTCTAAATTTAGCTTTCTGGAAGTGTTTTTACTTGGTTTGGGACTAGAGAATGCCTCTCCCCTATGATAAGTGATCACACAAGTGAGCATGCACACGCATACACACACATGCGCACACATGGACAGCAAGTCACAATAAAGCCTCACCATTTGAAGAGGTAGAAATCATAGAGCTTGATGGGACATCTCAATGGATTCTCTGGATTTTCCGTCTGTTCTGCATACATGTCATCTGTAACTATAAAACACACATCCCCACCACCACAGACCTGGCATCAGACTGCCTTACCTCAGGCCCAGATCAGGAAACTTAGGCTTTCAGCCAGCCCAACTAGGAAATACAGGGTCGGGGGAGGGAAGGTATGAGGCATGGGCAGTGACTACTAAGGGAAGAGGCAGCTATTCTGTCTGGGGCTTCTCTGCTTCTAGGAGGAAAGTTTGGAATTTTTGGCTGGGGAGAAGGGAGTGGAGAATTTTATCCAGCAAATCCCAACCTTTACACTTATCACTAGCCTCACAGGCACAAGGGCAGGACAGGGCAGGACAAGTAGCACCTGTTTTTGCCATCCCTGCCTCCTTTCCCTACCTTTCTGGCCAGTCTGGTGTATTCCAAGGGCCTTCAAGTACCGGATACTCGTGCTTTTATCCTTGGGATTAGAGGGGTTCTTCTTTGTCTGTCGCAAGACCTTGGAGAAGGCCAGCTTCATGTGCTGGTCCACTGTCTTCAATAGGAAGTACCTGGATCACAAGTAAAATGCAAGGCAGAGGGAGGGGTGCCGGGAGGATACCATGACTCATCCTCTGCCCACTGGTGCTTCAGAGGAGCCACTGCCCACATTCCCAAGATCTGGGCAGGCCCGTACCCAAGCAGTGTCCAGTGCAGGAACCACATCAAGATGGATGGTAGGGGTCTGGCAAGGGTGTTTGCCTCACTGGTTACCAAATAAAATGCAGCCAAGTGGGGTTAGGGCTTTCAGTAGCCCAGTTTCTCAAATATATGTCAGAGGAATTCAGAAGGCCTCTTGGATAGCTTCCACACTCTTCACTGGACAGATGCCAGCAGTGGAGCCTCTAGAACACTTACTTGGTATTAAAGAACATGAGGGTGGTCAGCAAGGTGGAGGGGGAGTGAGCCCCAAGCTGCTTGCACTCCCATAGCATCTCCTCAGTCACGTGGCTGGGCAAGACATAGCCTAGGAGGAATAGAGTACTGTCACAACAAGAGGATGGCAGGTGGTCTCTCAAAGGTACAATATGGGATGTGTGAAGCATAAGGACCACACAGGAGTATAAATTTCATCAGGGGACTCTCCCTAAAGTGTGGCAAAAATCATCTGGAAAGCTTCTTAAAACACAGATAGCTGGGTCCCAATCTGTTTCTGAGGTGGAACCTGATGATGAGCACTTCTAACACCACACTTGAGAACCACAGCCTTACATGATTGTTGTTACCCTCTAATCCAAGGCTAACACAGGGCAAAAAGACTGCCCTCAGAGACAGTGAAGTACAGAAAACTATAAACCAAACTCTGCATATATGCATAATTCTCTGAGAGTGTACAGAGCTTTGCATATTTTCAAAGGTGGTCCAGGACCCAAAGAACTGGCATGCACGCCCGTTTGCCCTTACCAAGTCTTCTCTCATCTCAACTGTCTCTAAAAAGCAAGGCCGGCCAGGCGCAGTGGCTGATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAACACAAAAAATAGCCGGGTGTGGTGGCGGGCTCCTGTAGTCCCAGCTAATCGGGAGGCTGAGACAGGAGAATGGTGTGAACCCAGAAGGTGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTCCCATCTCAAAAACAAAAAAACAAAAAAACAAAAAAAACAAAAAAAACGGCTATTGTCATTTCTTCTCTAGATAAAGAGACTGATACTCTTTGGGGGATTTTATTATTATTATTATTATTATTATTATTAGCTAAGATACAGGGTCTCTTCTACAATATTTATCTTTTTTTAAAAAAGGAAGACCAGGCATGGTGGCTCACGCCTGTAATCCGAGAACTTTGGGAGGCGGAGGTGGGAGAATTGTTTGAGCCCAAGAGTTGAAGACCAGCCTGGGCAACATAGCCAGACCTCATCTCCACTGAAAATCAAAAAAATTAGTCGTGTGATGGTGCACATCTGTGATCCCAGCTACCAGGGAGGCTGAGGTGGGAGGATTCCTTGGGCCTGGGAGGTCAAGGCTGCAGTGAGCCGTGATCGCACCACTGTACTTAAGCCTGGGTGACAGAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGGAAAAAAAAGAGATGGGGTTTCGCTCTGTCACCCAAGCTAGAGTACAGTGACACAATCATGGCTAACTGCAGCCTTGAGCTCTTGGACTCAAAGACTCCTCCTGCCAGTTTCCTGAGCAGTTAGAAATACAGGCGTGAACCACCACGCCTAGCCAATATGCCAGTATTTGAACTATTACAAGATCCCCCCCACAGGGCTGGTGTTACTGTAAGACCCTGGTTCATAAGTGAGCCCAGAGCTAGGTACAGGCAAAGGTCAATAATTTGAATAAGAGCCCTGGTCAGCCAGGTCTGCACCAAAGAAAGATGACATTTGAATGACTACCAAGCCCCTTCATGTGCTGAAGTCAGTCAGTATGCACATGTTTGTGCACTGGGTGCATAATGAGATAGGAGCAGGCAACAGTATTCTCCTGCAGGGTTTCGGGATTCTCCAAGCAAGCACAGTGTGTGACACTTCCTGGAAGCAGAAAAAAGAACATTCTGCCCGATACACTCCTCTTCTGTGTTCTATGCTCTTGCCAAAACAAAGCTGGCTCTCTAATAGTGCATTTCCATCTCTTTAAGGCAGTTCTGACTCTATTTTTTGTCTACTTTTCGGCTATTTTGTGACCCAGTGGCAATGGGAAAAGCTTTTCTGCTCTTAGACATATCTGAAGCCCCCAAGATCCAGGATGAGCAGAAAACAGCCCTTCTCAGCAAAGAAGGATTCAAGGAATCCTCTCACCTCAGCCTCCCTAGTAGCTGGGATCACAGGTGTGCACCATCACACTCGATTATTTTTTTTGATT
ATTTTTGTATTTTTTAGTAGAGATGGGGTTTTTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTTGGATTACAGGCGTGAGCCACGGTGCCCAGCCTCATGTTGTGTTTTCTACCCAATAATGATGGCCATTACAGTGGGGCCCTAAACTTGGGTTCACCCCCCTCCCCCGAACTGTGCTGTACCTCTATTAAGTACTTGGCATGCTGTATCCTCTAACAGTTATTCATCCATCCATTCAAGATTTATTCAAGGGTTACTAGTGCCAGGTCAGCACTAGGTGCTGATATTTAAAAAAATGGGCAGGAAAAGTATTTCCTACCCATGGAGCTTACAGATAGGAGGGGACACAGGTAGCAATTAAAGTTAAACAAATACAAAATAAAAAACAGTGATAAGTGCTACCGAGGAAACAGTCACAGGGAAGAGGTGGGGAATCTGGAAATGCTTCCCTGATAAGCTGTGTTTAAGTTGAGAAGAGGCATAATATGATGTCCTTGAGTGGAGAGGAGCTAGTGTGGCTAGGGAACTAAGAGCTCCACAGACATGAGGTTAGCAAGGGGGAGTGCATCAAAGGAGTTGTCTGCCATAAAAGAATTACTATGTAATGAGAAACCATTGAAGGGGCAAAAGGGAGAAAAAGCTGAGAGGAGTCTCACCTAGATTAATGATGGCAGTGACAAAAGGTCAAGGTCAGGAAGCAGGGCCATGCTCAATATGTGATGAAGGTAGATTCTCTGTACCTTCATACCCTTTTCATGAAAGGTGACTGTAGGGACCCGGGACCCCTTTTTCTATCAGTGCTAGGCACATCACACACCTTTGGAAAGCCAGAGCAAGGCTGCTTCTAAATTTAGCTTTCTGGAAGTGTTTTTACTTGGTTTGGGACTAGAGAATGCCTCTCCCCTATGATAAGTGATCACACAAGTGAGCATGCACACGCATACACACACATGCGCACACATGGACAGCAAGTCACAATAAAGCCTCACCATTTGAAGAGGTAGAAATCATAGAGCTTGATGGGACATCTCAATGGATTCTCTGGATTTTCCGTCTGTTCTGCATACATGTCATCTGTAACTATAAAACACACATCCCCACCACCACAGACCTGGCATCAGACTGCCTTACCTCAGGCCCAGATCAGGAAACTTAGGCTTTCAGCCAGCCCAACTAGGAAATACAGGGTCGGGGGAGGGAAGGTATGAGGCATGGGCAGTGACTACTAAGGGAAGAGGCAGCTATTCTGTCTGGGGCTTCTCTGCTTCTAGGAGGAAAGTTTGGAATTTTTGGCTGGGGAGAAGGGAGTGGAGAATTTTATCCAGCAAATCCCAACCTTTACACTTATCACTAGCCTCACAGGCACAAGGGCAGGACAGGGCAGGACAAGTAGCACCTGTTTTTGCCATCCCTGCCTCCTTTCCCTACCTTTCTGGCCAGTCTGGTGTATTCCAAGGGCCTTCAAGTACCGGATACTCGTGCTTTTATCCTTGGGATTAGAGGGGTTCTTCTTTGTCTGTCGCAAGACCTTGGAGAAGGCCAGCTTCATGTGCTGGTCCACTGTCTTCAATAGGAAGTACCTGGATCACAAGTAAAATGCAAGGCAGAGGGAGGGGTGCCGGGAGGATACCATGACTCATCCTCTGCCCACTGGTGCTTCAGAGGAGCCACTGCCCACATTCCCAAGATCTGGGCAGGCCCGTACCCAAGCAGTGTCCAGTGCAGGAACCACATCAAGATGGATGGTAGGGGTCTGGCAAGGGTGTTTGCCTCACTGGTTACCAAATAAAATGCAGCCAAGTGGGGTTAGGGCTTTCAGTAGCCCAGTTTCTCAAATATATGTCAGAGGAATTCAGAAGGCCTCTTGGATAGCTTCCACACTCTTCACTGGACAGATGCCAGCAGTGGAGCCTCTAGAACACTTACTTGGTATTAAAGAACATGAGGGTGGTCAGCAAGGTGGAGGGGGAGTGAGCCCCAAGCTGCTTGCACTCCCATAGCATCTCCTGTCACGTGGCTGGGCAAGACATAGCCTAGGAGGAATAGAGTACTGTCACAACAAGAGGATGGCAGGTGGTCTCTCAAAGGTACAATATGGGATGTGTGAAGCATAAGGACCACACAGGAGTATAAATTTCATCAGGGGACTCTCCCTAAAGTGTGGCAAAAATCATCTGGAAAGCTTCTTAAAACACAGATAGCTGGGTCCCAATCTGTTTCTGAGGTGGAACCTGATGATGAGCACTTCTAACACCACACTTGAGAACCACAGCCTTACATGATTGTTGTTACCCTCTAATCCAAGGCTAACACAGGGCAAAAAGACTGCCCTCAGAGACAGTGAAGTACAGAAAACTATAAACCAAACTCTGCATATATGCATAATTCTCTGAGAGTGTACAGAGCTTTGCATATTTTCAAAGGTGGTCCAGGACCCAAAGAACTGGCATGCACGCCCGTTTGCCCTTACCAAGTCTTCTCTCATCTCAACTGTCTCTAAAAAGCAAGGCCGGCCAGGCGCAGTGGCTGATGCCTGTAATCCCAGCACTTTGGAAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAAAACACAAAAAATAGCCGGGTGTGGTGGCGGGCTCCTGTAGTCCCAGCTAATCGGGAGGCTGAGACAGGAGAATGGTGTGAACCCAGAAGGTGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTCGGCAACAGAGCGAGACTCCCATCTCAAAAACAAAAAAACAAAAAAACAAAAAAAACAAAAAAAACGGCTATTGTCATTTCTTCTCTAGATAAAGAGACTGATACTCTTTGGGGGATTTTATTATTATTATTATTATTATTATTATTAGCTAAGATACAGGGTCTCTTCTACAATATTTATCTTTTTTTAAAAAAGGAAGACCAGGCATGGTGGCTCACGCCTGTAATCCGAGAACTTTGGGAGGCGGAGGTGGGAGAATTGTTTGAGCCCAAGAGTTGAAGACCAGCCTGGGCAACATAGCCAGACCTCATCTCCACTGAAAATCAAAAAAATTAGTCGTGTGATGGTGCACATCTGTGATCCCAGCTACCAGGGAGGCTGAGGTGGGAGGATTCCTTGGGCCTGGGAGGTCAAGGCTGCAGTGAGCCGTGATCGCACCACTGTACTTAAGCCTGGGTGACAGAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGGAAAAAAAAGAGATGGGGTTTCGCTCTGTCACCCAAGCTAGAGTACAGTGACACAATCATGGCTAACTGCAGCCTTGAGCTCTTGGACTCAAAGACTCCTCCTGCCAGTTTCCTGAGCAGTTAGAAATACAGGCGTGAACCACCACGCCTAGCCAATATGCCAGTATTTGAACTATTACAAGATCCCCCCCACAGGGCTGGTGTTACTGTAAGACCCTGGTTCATAAGTGAGCCCAGAGCTAGGTACAGGCAAAGGTCAATAATTTGAATAAGAGCCCTGGTCAGCCAGGTCTGCACCAAAGAAAGATGACATTTGAATGACTACCAAGCCCCTTCATGTGCTGAAGTCAGTCAGTATGCACATGTTTGTGCACTGGGTGCATAATGAGATAGGAGCAGGCAACAGTATTCTCCTGCAGGGTTTCGGGATTCTCCAAGCAAGCACAGTGTGTGACACTTCCTGGAAGCAGAAAAAAGAACATTCTGCCCGATACACTCCTCTTCTGTGTTCTATGCTCTTGCCAAAACAAAGCTGGCTCTCTAATAGTGCATTTCCATCTCTTTAAGGCAGTTCTGACTCTATTTTTTGTCTACTTTTCGGCTATTTTGTGACCCAGTGGCAATGGGAAAAGCTTTTCTGCTCTTAGACATATCTGAAGCCCCCAAGATCCAGGATGAGCAGAAAACAGCCCTTCTCAGCAAAGAAGGATTCAAGGAATCCTCTCACCTCAGCCTCCCTAGTAGCTGGGATCACAGGTGTGCACCATCACACTCGATTATTTTTTTTGATTNN
pathogenic
68,385
Does the chromosome 3 mutation at position 49046440 within gene QRICH1 (glutamine rich 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Ververi-Brady_syndrome']
AGTGGAGTGACCCGGGGCTGAACATCCTTCAGAACTTCATGTAGCCACTCCGTGAACCGAACATAATAAAGATCGGAGAAAATGTCATCTACCCTTCCATTTTCAAAAAGATACTAAAAGAAAAACAATTAATAGAAGTTATTGGTAGTCTCCTGAACAAGGATTTCAGGGGAAATAAATATATTTTTCTACCAGTACTACTATCCTTCCCTACCCATTCACACCTCAACAAACCAAGGCACCAGCATGTGACACTTCCATAGTATGCCTAAGCTCATGTGACTGATTCTCATGACATTCTTGAGAGTTGGGTAAATAAGGCAGATGTTGTGAATGCTATTTCACCCAAGAAAGGCATTATTTTGTGTTAGCAAAAATCATGAATAGGCTCTGGGGTCAGCCTTCCATTAGATATTGTATAAGTTAAACAACATGTGCAAGTCTTTTAATTTCTGAGACTCAGTTTCCTTGCCTGTAAATGGAGATGATGGTATCTGCCTTCCAGGACTGGGAGAGCAAAGAATGAAAGCATGTAAAGCAATTCACATAGTACTTAGGTTAGGACCACCAAGAGAGGAAAAAACTAGGAGGCAGACATTTCTCAAGACTAGGCAACAGAATAAGTCCCAACCAGTAAGCCCTATTCTATTATACTGTGGGTTTCTCCTCAAGAGCCTTCAAACACTAAGAAATCCACCTCTGCTCCCTTGAACTGCCAGTCTGCAAATTTCTGTTATGCTTCACCACAGATGTCCTGAAAACCTAACTACATTGGTATATTATTCTAGCTAGACTCCTTCAAATAAGTAGTTAGTGCAGGGAACAATGAGAAGAAAACCTCTATGCTGGCACAAGACTCTGTTTTGAATAAATTACCTTCATGAAAATCAGGTTTAACAAAAAGAAAAGTGTTACATAAATGCTTTGTGAATTACAAAAAAAAAAAAAAAAAAAAAAAGTCAAGGTAATTACCAATAATGTAATAGAAGTTTAGGTAGTAGGATGAATAATGTTTGTTTTCCTATTTTATTATTTATTTTATGTATTTATTTTTTAAGAGGCAAGGTCTTGCTTTGTAGACCAGATTGAAGTGTGATGGCACAATCATAGCTGAATGCAGCCTCGCACTCCTGAGCTCAAGGGATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTACAGGTGTGTGCCACCACACCCAGCTAATTTTTTTTCTTTTCGTTTTTCAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGACATAATCATGACTCACTACAGCCCCAACCTCTGGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCATTACCATACCCAGCTAATTTTTTGTAGAGATGGGGTTTCACTATGTTGCCTAGGCTGGTCTCAAACTCCTGGGGCTCAAGCGATCCTCCTGCCTTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGACATCTTGCCTGGCTCTTATTTTTTTTCTTTTCTTTTCTTTTTTTTTTAATTTTTGAGACAGAGTCTCGCTCTGTCACCCAGACTGGAGTAAAATGCTGTGATCTCAGCTCATTGCAACCTCTACCTCCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAATAGCAGGGATTATAGGCAGTGCACCACCACACCTGGCAAATTTTTCTATTTTTAGTGGATGGGGTTTCACCATGTTGGCTGGGCTGGTCGTCTTCAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCCACCAGCGCCCGGCCCCGGCTGTTATTTTCTAAAGTGAACGTGTAGGTTTTTAAAACTTAAAAAAAAAAAAAAAACAACAAATGTGTATTTTAAAACTCACTGTATACCTGAAAGAGAACTTCCTTATTTTAACTTCTTGCTTATCAATTTATTAACTAAACTAGCAAACATCCAATAGGAACACAGCTCAAACATGTTCTTGTGAAGATCTGTTTCCTACCTTTTGAATACACAGGAAAATATAGTAGAGCACATCTGGGTCATAGGGTTCACCTTCTCCATTTCGAGCTTCCCGTGTCATTAGACAGAGCCCATAATTCAACTCTGCCACAGCAGAGGAGATGAGATCTTCCTGGAATCGCAGCAGTTGGCGCCCTGCAACGGAAGCCTCAAAAATGAATGAAGGTCCTGGGGGTCCATATCTGGAAGGCTCAGAACAGATACTGCCCATCAGGGTGCTGGGATAGAAATGCTCACTTGTATCTACTAGAATGTTTCATGCCTGTAATGTCAGAACTGGCCTATAACATGAGTATATGAGCCTAATGCCAAGAAAGAAGGGCTTGAGTGCCTATCCCTGGTTCCCATTTCCTCCCAGAAGCCACTCTGCTTAGGTCTGGTAGGGTCAACTCCTGAAACCCGTATGTCTAAAAATGCCTGGTTTTGGGCAAACCCCACATATCCTGCTTATTATGTACACAAGGTCAGTACTGCTTGTTACTAGGCTTGAATTCAACATACTATTACAGATGTTGCTCTCTTGTCCCCAAGACAGGAGACACCACTTTTCTGGCATTTTGTCCTCCTGTTACTTTAGTACCATTGCATTTTAGACACAGCCCACTCTTCTTCCAAGACACTCACTCCCAATGGGTGCCAATCTGTTCTGAGCATCCTTCTCTAGTTCAGCATTCTTGGTCTGGGCCCAGTTTTTCCATACTTCAAGCCCTTCTTCTGGCTTCAAAGAATTTGGAAGCAGAAGTTCTGGGGAAGGCTGTGGCTGTGACTGTGGTTCAACTTCAGCAACCTGGACAGTTTGAGCCTATAGGAGAGAAACCATGAAAATGTGTCAATATTGTTTTATATTAGATCCTTCTGCAAAATTGCCAGAAAAATGTTATGTATAGTTCATTTATTTAAGAAAATATTTCTCTACTCATTGCTGTCCTACTTTTAAGAAGCTTTGGAGTTCTACCTCTTGCCCCAGGGACAGCAAAAGCAGCACTGCAACTGGGCTAGTGCAGTGCTTCTCAGCCTTGGCTGCACTTTTAAATGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTCCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCACCCTCCGCCTCCCGGGTTCAAGTGAGTCTCCTGTCTCAGCCTCCCGAGTACCTGGGTTTACAGGCATGCACCAACACGGCCAGCTAATTTTATAATTTTAGTCGAGACGGAGTTTCGCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTAATCTGCCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGTCAAATCTTTTATTTAAAAACACTAATAGCCAGACTTACCCCAGAATCTCTCTGAGGGGGAGCCAAGGTATCAATTGTTTAAAAACTCCTTGAGTAAGATTGCACCACTGCACTCCAGCCTGGTGATAGAGCGAGACTCTGTCTCGAAAAAAGAAAAAAGAAAAAACAAAACAAAACAAAAAAACTCCTCAAGTAAAAAAGTAATTCTAATGTTTGGTCACCACTGAGAACTACTGGCTCAAAGCACTGCTCCCACAGTCTTTAATGTGCAAACAAATCACTTGGGGATTTTATCAAAATGCATATTCTGATTGAAAAGGGTAGGAACTGAGACAACATTTCTTTCTTTCTTTTTTTTTTTTTTGGCGGGGAAAGAGTTTCGCTCTTGTTCTTGGATGCTGGAGTGCAATGGCAGGATCTCGGCTCACCTCAACCTCTGTCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGACTCCCATCTTCAGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCTTGGGCCATCGGCCGAGAGCACTGATTCTTAAACTGGGTCTCACCTTGAAATCATCTGGATTGCTTTAAAAAAAAAA
AGTGGAGTGACCCGGGGCTGAACATCCTTCAGAACTTCATGTAGCCACTCCGTGAACCGAACATAATAAAGATCGGAGAAAATGTCATCTACCCTTCCATTTTCAAAAAGATACTAAAAGAAAAACAATTAATAGAAGTTATTGGTAGTCTCCTGAACAAGGATTTCAGGGGAAATAAATATATTTTTCTACCAGTACTACTATCCTTCCCTACCCATTCACACCTCAACAAACCAAGGCACCAGCATGTGACACTTCCATAGTATGCCTAAGCTCATGTGACTGATTCTCATGACATTCTTGAGAGTTGGGTAAATAAGGCAGATGTTGTGAATGCTATTTCACCCAAGAAAGGCATTATTTTGTGTTAGCAAAAATCATGAATAGGCTCTGGGGTCAGCCTTCCATTAGATATTGTATAAGTTAAACAACATGTGCAAGTCTTTTAATTTCTGAGACTCAGTTTCCTTGCCTGTAAATGGAGATGATGGTATCTGCCTTCCAGGACTGGGAGAGCAAAGAATGAAAGCATGTAAAGCAATTCACATAGTACTTAGGTTAGGACCACCAAGAGAGGAAAAAACTAGGAGGCAGACATTTCTCAAGACTAGGCAACAGAATAAGTCCCAACCAGTAAGCCCTATTCTATTATACTGTGGGTTTCTCCTCAAGAGCCTTCAAACACTAAGAAATCCACCTCTGCTCCCTTGAACTGCCAGTCTGCAAATTTCTGTTATGCTTCACCACAGATGTCCTGAAAACCTAACTACATTGGTATATTATTCTAGCTAGACTCCTTCAAATAAGTAGTTAGTGCAGGGAACAATGAGAAGAAAACCTCTATGCTGGCACAAGACTCTGTTTTGAATAAATTACCTTCATGAAAATCAGGTTTAACAAAAAGAAAAGTGTTACATAAATGCTTTGTGAATTACAAAAAAAAAAAAAAAAAAAAAAAGTCAAGGTAATTACCAATAATGTAATAGAAGTTTAGGTAGTAGGATGAATAATGTTTGTTTTCCTATTTTATTATTTATTTTATGTATTTATTTTTTAAGAGGCAAGGTCTTGCTTTGTAGACCAGATTGAAGTGTGATGGCACAATCATAGCTGAATGCAGCCTCGCACTCCTGAGCTCAAGGGATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTACAGGTGTGTGCCACCACACCCAGCTAATTTTTTTTCTTTTCGTTTTTCAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGACATAATCATGACTCACTACAGCCCCAACCTCTGGGGCTCAAGCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCATTACCATACCCAGCTAATTTTTTGTAGAGATGGGGTTTCACTATGTTGCCTAGGCTGGTCTCAAACTCCTGGGGCTCAAGCGATCCTCCTGCCTTGAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGACATCTTGCCTGGCTCTTATTTTTTTTCTTTTCTTTTCTTTTTTTTTTAATTTTTGAGACAGAGTCTCGCTCTGTCACCCAGACTGGAGTAAAATGCTGTGATCTCAGCTCATTGCAACCTCTACCTCCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAATAGCAGGGATTATAGGCAGTGCACCACCACACCTGGCAAATTTTTCTATTTTTAGTGGATGGGGTTTCACCATGTTGGCTGGGCTGGTCGTCTTCAACTCCTGACCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCCACCAGCGCCCGGCCCCGGCTGTTATTTTCTAAAGTGAACGTGTAGGTTTTTAAAACTTAAAAAAAAAAAAAAAACAACAAATGTGTATTTTAAAACTCACTGTATACCTGAAAGAGAACTTCCTTATTTTAACTTCTTGCTTATCAATTTATTAACTAAACTAGCAAACATCCAATAGGAACACAGCTCAAACATGTTCTTGTGAAGATCTGTTTCCTACCTTTTGAATACACAGGAAATATAGTAGAGCACATCTGGGTCATAGGGTTCACCTTCTCCATTTCGAGCTTCCCGTGTCATTAGACAGAGCCCATAATTCAACTCTGCCACAGCAGAGGAGATGAGATCTTCCTGGAATCGCAGCAGTTGGCGCCCTGCAACGGAAGCCTCAAAAATGAATGAAGGTCCTGGGGGTCCATATCTGGAAGGCTCAGAACAGATACTGCCCATCAGGGTGCTGGGATAGAAATGCTCACTTGTATCTACTAGAATGTTTCATGCCTGTAATGTCAGAACTGGCCTATAACATGAGTATATGAGCCTAATGCCAAGAAAGAAGGGCTTGAGTGCCTATCCCTGGTTCCCATTTCCTCCCAGAAGCCACTCTGCTTAGGTCTGGTAGGGTCAACTCCTGAAACCCGTATGTCTAAAAATGCCTGGTTTTGGGCAAACCCCACATATCCTGCTTATTATGTACACAAGGTCAGTACTGCTTGTTACTAGGCTTGAATTCAACATACTATTACAGATGTTGCTCTCTTGTCCCCAAGACAGGAGACACCACTTTTCTGGCATTTTGTCCTCCTGTTACTTTAGTACCATTGCATTTTAGACACAGCCCACTCTTCTTCCAAGACACTCACTCCCAATGGGTGCCAATCTGTTCTGAGCATCCTTCTCTAGTTCAGCATTCTTGGTCTGGGCCCAGTTTTTCCATACTTCAAGCCCTTCTTCTGGCTTCAAAGAATTTGGAAGCAGAAGTTCTGGGGAAGGCTGTGGCTGTGACTGTGGTTCAACTTCAGCAACCTGGACAGTTTGAGCCTATAGGAGAGAAACCATGAAAATGTGTCAATATTGTTTTATATTAGATCCTTCTGCAAAATTGCCAGAAAAATGTTATGTATAGTTCATTTATTTAAGAAAATATTTCTCTACTCATTGCTGTCCTACTTTTAAGAAGCTTTGGAGTTCTACCTCTTGCCCCAGGGACAGCAAAAGCAGCACTGCAACTGGGCTAGTGCAGTGCTTCTCAGCCTTGGCTGCACTTTTAAATGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTCCTCTTGTTGCTCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACTGCACCCTCCGCCTCCCGGGTTCAAGTGAGTCTCCTGTCTCAGCCTCCCGAGTACCTGGGTTTACAGGCATGCACCAACACGGCCAGCTAATTTTATAATTTTAGTCGAGACGGAGTTTCGCCATGTTGGTCAGGCTGGTCTTGAACTCCCAACCTCAGGTAATCTGCCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACTGTGCCCGGTCAAATCTTTTATTTAAAAACACTAATAGCCAGACTTACCCCAGAATCTCTCTGAGGGGGAGCCAAGGTATCAATTGTTTAAAAACTCCTTGAGTAAGATTGCACCACTGCACTCCAGCCTGGTGATAGAGCGAGACTCTGTCTCGAAAAAAGAAAAAAGAAAAAACAAAACAAAACAAAAAAACTCCTCAAGTAAAAAAGTAATTCTAATGTTTGGTCACCACTGAGAACTACTGGCTCAAAGCACTGCTCCCACAGTCTTTAATGTGCAAACAAATCACTTGGGGATTTTATCAAAATGCATATTCTGATTGAAAAGGGTAGGAACTGAGACAACATTTCTTTCTTTCTTTTTTTTTTTTTTGGCGGGGAAAGAGTTTCGCTCTTGTTCTTGGATGCTGGAGTGCAATGGCAGGATCTCGGCTCACCTCAACCTCTGTCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGACTCCCATCTTCAGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCTTGGGCCATCGGCCGAGAGCACTGATTCTTAAACTGGGTCTCACCTTGAAATCATCTGGATTGCTTTAAAAAAAAAAN
pathogenic
68,387
Regarding the variant at chromosome 3 and position 49056907, affecting gene QRICH1 (glutamine rich 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Inborn_genetic_diseases', 'Ververi-Brady_syndrome']
TACCATACTCCTACCTGGGAAACAAAGCAACAACCTGTCTCAAAAATAAATAAACTACAGTTCAAACGTCATTTTGTCCACAAAGACCTCTGTTGACTTCTTAACCTAGAATTTCTAAATTCCCAGTTTGTCTTTGTGTATATGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTGCCTCTATGAAACCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTCTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAGT
TACCATACTCCTACCTGGGAAACAAAGCAACAACCTGTCTCAAAAATAAATAAACTACAGTTCAAACGTCATTTTGTCCACAAAGACCTCTGTTGACTTCTTAACCTAGAATTTCTAAATTCCCAGTTTGTCTTTGTGTATATGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTGCCTCTATGAAACCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTCTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAG
pathogenic
68,392
Is chromosome 3, position 49057049, gene QRICH1 (glutamine rich 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Inborn_genetic_diseases', 'Ververi-Brady_syndrome']
TGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTGCCTCTATGAAACCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTCTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAGTTTCACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGG
TGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTGCCTCTATGAAACCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTCTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAGTTTCACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGNN
pathogenic
68,393
Variant at chromosome position 49057049, chromosome 3, gene QRICH1 (glutamine rich 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Ververi-Brady_syndrome']
TGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTGCCTCTATGAAACCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTCTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAGTTTCACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGG
TGTCATAATTATTCTGCCTTATAAATAATTCGAAGGAAAAGAAATCCTGAGTTCTTACTTTTCACAACTAGACTCTAAGCTATATGAAGCAAAAAACCTTCTCTTATTCTATTTCTAGGCCCAACAGCTAGATATTTAGCAGGTCCTTAACAATGTCACCTAGGATAATATGATACTGCCTCTATGAAACCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTCTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAGTTTCACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGNNNN
pathogenic
68,394
A genetic variant on chromosome 3, position 49057238, affects the gene QRICH1 (glutamine rich 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Ververi-Brady_syndrome']
CCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTCTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAGTTTCACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGATGGAATTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACAAGGGACCGTTTTTTTCTCTAAAGATAGG
CCACCTGGTCAACCTTTGCTTAATTAATCACTTACAGCCCATGTTTCCAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTCTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAGTTTCACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGATGGAATTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACAAGGGACCGTTTTTTTCTCTAAAGATAGGN
pathogenic
68,395
Mutation found at chromosome 3 position 49057285, gene QRICH1 (glutamine rich 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Intellectual_disability', 'Ververi-Brady_syndrome']
CAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTCTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAGTTTCACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGATGGAATTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACAAGGGACCGTTTTTTTCTCTAAAGATAGGGTCTTGCTCTGTTGCCCAGGTTAGAGTACCGTGATAAGATGATAGGG
CAAGTGCAGTCCCTTATCTAACTTGTTTGTACCAGCTCCCACAAACATATGCATGCTCAGGAGCCTATGCCCACCGAGGCATAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTCTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAGTTTCACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGATGGAATTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACAAGGGACCGTTTTTTTCTCTAAAGATAGGGTCTTGCTCTGTTGCCCAGGTTAGAGTACCGTGATAAGATGATAGG
pathogenic
68,396
Determine whether the variant at chromosome 3, position 49057366, in gene QRICH1 (glutamine rich 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Intellectual_disability', 'Ververi-Brady_syndrome']
TAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTCTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAGTTTCACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGATGGAATTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACAAGGGACCGTTTTTTTCTCTAAAGATAGGGTCTTGCTCTGTTGCCCAGGTTAGAGTACCGTGATAAGATGATAGGGCACTTTAAACTTCAAACTCCTCAAGTGATCCTCCCACCTCAGCCTGCTAAATAGCTAGAACTACAGGAACACCACCACCAC
TAGCACCTTCATCAGTCCCATAAGACCAGAGGCCCTATATCCCACTCTAACGGGACCAGATATTTTACCAATCAGTTCTTTTAGACAGGGTCTCACTCTGTTCTCTAGGCTGAAATGCAATGGCATGATCATAGTAGCCTCAACCTCCCAGGCTCATGCAACCCTCGCATCTACGCTGGGACCACAGGTATGTGCCATCACACTAGACTATATTTTTTAAATTTTTGTAGAGATAGGGTCTTCCTATATTGCCCAGGCTGATCTCAAACTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCTCCCAGACTGCTGGGATTACAGGCAACTGCCACTGCACCCAGCACTAATAGTTTTTTTGTTTGTTTGTTTTGAGACAAAGTCTTGCTATGTTGCCCCAGGTTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCTTCCCAGGTTCAAGCAATTCTCCTGCTTCAGCCTCCTGAGTAGGATTACCTGGGATTATAGGTGTGTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTGATCTCAAACTCCTGACCTCTGGTGACTCACCCGCCTTGGCCTCCCAAAGTACTGGGGTAACATGCATGAGCCACCGTGCCTGGCCCCTACTTTTTTCTTTTGACAGAGTTTTGCTCCTGTTGTCCAGGCTGGAATGCAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGTGGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGAAGTGCACCACCTCGCCCGGCCGCCCCCGTAACACAAAAACTCTTGGGAGGTCCCACCACATAGACGGCATATTCAAGCCTCCCAATGGTGATCACTTTTAACAGGCTCCTTATGAGTTATTTTAGCTTTTCTAATTCACCCACACTGTGTGCCCAAAGATGAAAAACAGAATGAACAATCTCACAGCCTCTCCAGTGATGAGTTTGTAATCTATGTGATAAACTACAAGTGTTTTGCTAAAACCATTTACTTATGATACAAGGAAACAGCACTGGGACACACTTGAGGTGTCCCATTCATCTACACCTGTAACTTTACTCTTCCTGAGAAGAGATTACAAAGAAGTGTCCATGGTACTTAAACCCAAAATGTCTCCAAAACTCCAAAGCAATTCCTGGCCATCTCATTTACCTCCAGGTACCAGGATAAACTCTTTTTTCTGTTGCATAGCCTCACGTGATGTTTCTCCCCCTCTTCTCCCAAATACTAAATACTGCATCACTGTAAGAGTAACAGCAGTAAATAAGCCAGAGGTTGCGAGGCAAGCTCTGTGCTGCACTGGGCCCTGAGGGACCAGGCTGCCTGCCCTACTGATAAGTCTTCACTTACTGAACAAGTAACTTGGAGTTGCTGCTGCTGCTGCTGTGGTGGTGGTGTCTGTTCCTGGGGAGTTTGCTGCTGCGGCTGCTGTTGGGGGTCCCATATATGGACAGTTTGAGCCGTATTCTGGTACGTGCCTGCCACAGCCTGCACAGCCACTGGAATGTGGATGTTGCCATTCATGAACTGTGCTGGAAAGAGAGAGTTTGCAAGGGTCTGCACTACCTCTTCATGGGAGTTTTTCACTACAGATGTGGTGCCCACCATCTTCTCCTTGTCATCCTCCAGCTTAACAGCTGCCAGGGCTGTGGGTGAGCCACTGACGTGAACTGCGTTGTAGGCTTCCTGGGGAATGGCAATGTGGGTAATGCTCTGCTGCTGAGGGTCCCCCCGGGGCTGGGCAGAATAAACAGGGATGGTCCAGGTTTCTCCTGTAGGGCTAGTAATGGTCCCAGTGGCACTGTACAGGTGGGCACTGTCTACTGTCAGTAAGTCTGGCCTCAAAGACACATAACTGCTGCTGGCCCTGTGGAATGGCCAGCACGGTGGCCACCGGCTGCCCTGAGATGGCGTAGGACACAGTGATGGGCATGTCCACTTTGCGCTTCTTCACTGGTTGGAGGACACTGGCCGTGCCAACCCGCCGCTCCCCTTCCCGGGGTGAGCCCTGCTGGGATGGTGGTGGGGAAAGGGCACCCACGGTCTGGATTTGGATCTGCTGACCACCAGCAAGAGACTGGCCAGCCACCAGCTGAGCCTGGATTTGCTGATGTGGGATGTGCTCCTCCGGGATTTCTGCAGCCTGGATCTGCTGGGCTGCTTGCACGTGCTGCACCTGGATCTGAGCTGCTTGCAGCTGCGAGGGACTGGGACTCTGCAGAGACGGGGTCTGAATGGAGGGGGCTGCTGACTGTGGTGCCTGGCCTTGGATCTGCACCTGGACCTGGATGGGTTGCTCAGTAGGCTGGTGAACGGTGAGTTGTGGGGAGAGCTGAGCCGAGACCTGTTGCGGAGACTGCTGTACCTGCACCTGGACCTGTAAGCAACAAGATTCATCAGTGAGTGAACCAGGCAGCACTGAAAATCCAGTACCCAAGGAAAGAAAGAAAAGAGATCCCAGACAGGGGACCTGCAAAATGTGAGAAAACACTGGCATACTCAAGGCTTCTGAGAAGGACACAATACGTAAGACTAGATCCAGGATTGTCCAGCAGCACATTACAATAACAGGGACATATATCCACCCCAGAGAGCAAGCAAGACAATTAACTGGGGCCTAAAAAGGAAATACCAAAAAAAAAAATTTTTTTTTTTTAAGATGGACTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTGCTGGGATCAAGCGATTCTCCTGCCTCAGCTTCCTAGAGTAGCTGGGATTACAGACATGCTGGAGTCTAACAAGGAAATATCAAAACTTTGGTTCTTTTTTTTTTTCCCCAAATTCTCATTGTGTCGCCCAGGCTGGAATGCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACCTCTCAGGCTCAAGCAATTCTTGAAGCCAGCCTCCCGAGTATCTGGGATTATAGACATGTGCCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAAGCTAATCTTGAACTCCTGACCTCAACTGGTCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGAAACGGCCGGCATTTTTATTTCCATTTTCTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCAACCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGAATGCATCACCATGCCCAGCTGATTTTGCATTTTTAGTAGAGACAGGATTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAAGTGATCCGCCCACCTTGGCCTCCAAAACTGTTGAGATTACAGGCGTGAGCCACCACGGCCAGCATTTTAAAAATTGTTTTTGAAATGGAGTTTCACTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGCCTGCCACCACACCCGGCTAATTTTTTTTTTGTATTTTTAGTAGAGATGGAATTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACAAGGGACCGTTTTTTTCTCTAAAGATAGGGTCTTGCTCTGTTGCCCAGGTTAGAGTACCGTGATAAGATGATAGGGCACTTTAAACTTCAAACTCCTCAAGTGATCCTCCCACCTCAGCCTGCTAAATAGCTAGAACTACAGGAACACCACCACCACNN
pathogenic
68,397
A mutation at chromosome position 49076881 on chromosome 3 in gene QRICH1 (glutamine rich 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Ververi-Brady_syndrome']
GCTGGGCGTGGTGGCAGCTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCACCACTGCAGTCCAGCCTGGGCAACAGAGCGAGACTCCATCTTAAATAAAAAAGACCAAATATCTGTGGTGTTTTTAGTTTACAGTACTCGAAAATATTTTTAAGGCCAGGCATGGCAGCTCATATTTGTAATCTCAGCTCTTTGGGAGGCCAAGGCAGGAGAATATCTTGAGGCCAAGAGTTCAAGACCAGCCTGGGCAACATAGGGAGACTATATCTCTACAAAAAAAAAAAAAATTAATTAATTAGCTGCACGTGGTGGTACATGCCTGTGGTCCCAGCTACTTGGAGGTTGAGGCTGGATGATCGCTTAAGCCTTGGAGGTCAAAGCTGCAGTGAGGAGTGATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCTGTCCCTCAAAAAAAAAAAAAAAAAAAGTCAGGCGCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCCCGAGAAGGGCAGATTACCTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACAAGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTAGCACATGCTTGCAATCCCAGCTACTCAGGAAGCTGAGGTAGGAGAATCGCTTGAACCCAAGAGGTGCAGGTTGCAGTGAGCCGAGATGGCTCCATTGCATTCTAGCCTGGACAACAAGAGCGAAACTCCAACTCAAAGAAAAAACAAACAAACAAAAAAAAGGCTGGGCATGGTGGCTCACACCAGTAATCCCAGCACTTTGGCACTTTGGGAGGCCAAGGCACGCAGATCTCTTGAGGTCTGGAGTTCAAGCCCAACATGGGGAAACCCAGTCTGTATTAAAAATACAACAAAAATTGCTGAGGGTGGTAGTGCACACCTGTAGTCCCAGCTACTCAGGAGTCTGAGGCATGAGAATAGCTTGAACCCGGGGGACAGAGGCAAGAATGCACCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCTGTCTCAAAAAAGAAAAGAAAAAAACAACCCAGGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTTGGATAAGGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTATTAAAAGTATAAAAAATTAGCCGAGTGTGTTGGCAGGCACCTGGAATCCCAGCTACTCAGGAGGCTGGGGCAGGAGAATCCATCCTGGACCACAGTGCAAGACTCCATCTCAAAAAAAGAAGAAACAAACAAAGAAAACAACCCAAGTACAATGACATGGCAGCACCACAGTGTTGGTCAGCCTCGGAAAGCCAGTCCCCCACCATCACTGACATCGCCGCCGGCGGGGTCACGTGCCGGGACCGGGTTCCGGTGTGGAGAGCCCCTCATCCTGGGAAAAGGTGCTGCCAGAAAGGTGGCGCCCCCTCACTCATCACGCAAGTCACGTTGAACCTGATGCTAAACCAATCATAGATGACCCGCTTCTGGGTTGGGGTTTCCTAGGTAGCTAAGCAGATCCCTGGCTGCAATCTATTCAAAGTCAGTCCTTGACACTGGGGTTTGTTTAAAAAAAAAAAAAAGCTTAAAGAAAAAGGAGAAGAAAGAAAAAACTTTTAGTCCACATTAACTTTGAAAATCTTAGTGTTAAATAACCTATAACATCCACATAGATGTGATGAGCCCACTAACTAAAACACTGACAACAAATAAAGTACATTAAACAGGCTGCACCTCAGCATTTCCCATATACCTGAACCTGCTGCGGCTGCTGAACCTGGATCTGCTGTTCTTGCTGGGTTTGTGGCTGAACACTGGTGGTGACTGGACAGGCAAGTTCAAGCAAAGACCCAGCCACTTCAGTGCTGTCTGTGTATATGCAGTTCCCACCCTGTTGGTACACCATGGTAGTGGTGGCTGTCTGCTGGAACTCCTGAAGGGCTTCTGGCCCCTTAGAGGCCAGTGAGTCCAGAAATTCCTTCATCCTGTGTTGCGGGACAGACCGTGCCTTTACTCGGATGTACTCTTCAAAGGAGATGGTGTTCTCTAGGGAATTATTCATATTGCAGAGTCCTTAGGGTTCCTAGAAATAAACAGAAGTCAAAATTATGTTACTGTTTTTAGCAGGAAATGCCCAGAAGCAATTACCCTTGCACAAGAGTGGAATATATTCAGGGCAGCTGTATACATATAGAATCAAAAAATAAAGTTTTATTATACCACCTTATTTTTTCAATTAATGGATGTTTGAAAATTATTTCTATTAACATTTCTTAAATAAAACTATCACACTGAAAACAAAAAAACAAACACATGCTTCACAATACTGGATGAAACAGGCTGAAAACACACTTCCTACCCAGCACTAGGTCAATCCCATCTTCTCTGCAGAGCCAAGCACTGGACAGTAAATGTCACATGCAAAACTGCTCTGTGACCATCACAGAGAGGACACCAAGCAAGGAGGAAGCTAGGGGCAGGGATTCCTATGGATATGTTTTATTTCCAAGTATTTCCTACAGCAGAGATAGGTATGCCACCTAGTTGTGGCAAGACACAAGAGGCAGAGGATATGTTCTTCATCTCCCATCAGAAAAACCAAAAATCCTATTTTGCCATGTGGTGCTCACATTCTTTTGCAACACAGCTTACTACTGGTTAAAAGCATGGACTCTGGAGCCAGGCTGCCTGGGTTCAAATCCCAACTTTATGTCTCCTTTATTATGTAACTCTAGAAAAGTCAATTAACCTTAGTTTTCTTGTGAGTAAATGGGGACACAATAGTACTTACCTCACAGTTGACATAAGGATTAAATAAGGCATTTAGAAAATCATCTAGCACATAGATAGCACTACAGAAATGTAACTAATACTATTAAAATAATTCTGGAAAAAAGGTAAATAGTGCTTTAAATATCCAGGTCACTACTAAAATTCAGAAATAAATTCTACAAGTTTTCATCAGGTATTTAATTACCTTAAGAATTAACCTGCAGACGTACAGTTAACTCTCATCATCTGAGGGAAAAGTGTGCAATCTGTGGACTGCTGACCCCTGTCGCTGCTACCTTTGTACCATCCTCCCTTCAACAGCCCGACCTCCAGAACAAAAGTAGCAGCAGGATGAAAGAGTAACAGAAAACAAGCGAACGTTTTTGCCAAAAAGGATTATCAGACAATTCTGAATGTCTGGAAAGGTGATTTGTTCCCTTGAGCAATCAGGATAGATACACTAGACTGACCAGATGCTCTACCTTATGTTACAGATATAAAATATGTGGGTAAACGTCTCCTTTCTTCTACCTAGGCTCTAAGTTCTTGGTAGACAAGACTATGTCCTGGTTCTCTCCGAATAGCTCACCCATGGTAGTTGCTTCATATATACCTGCTGCATTTGAAATTCAATGTGGAAAACGAAGAATTATGGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTTGGCTCACTGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCCCCATCTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACACCTGTCCTTTTTTTTTTTTTTTTTTTTTGAGTTGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACTGGGTTTTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGACTTCAGG
GCTGGGCGTGGTGGCAGCTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGCACCACTGCAGTCCAGCCTGGGCAACAGAGCGAGACTCCATCTTAAATAAAAAAGACCAAATATCTGTGGTGTTTTTAGTTTACAGTACTCGAAAATATTTTTAAGGCCAGGCATGGCAGCTCATATTTGTAATCTCAGCTCTTTGGGAGGCCAAGGCAGGAGAATATCTTGAGGCCAAGAGTTCAAGACCAGCCTGGGCAACATAGGGAGACTATATCTCTACAAAAAAAAAAAAAATTAATTAATTAGCTGCACGTGGTGGTACATGCCTGTGGTCCCAGCTACTTGGAGGTTGAGGCTGGATGATCGCTTAAGCCTTGGAGGTCAAAGCTGCAGTGAGGAGTGATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGCAAGACCCTGTCCCTCAAAAAAAAAAAAAAAAAAAGTCAGGCGCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGCCCGAGAAGGGCAGATTACCTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACAAGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTAGCACATGCTTGCAATCCCAGCTACTCAGGAAGCTGAGGTAGGAGAATCGCTTGAACCCAAGAGGTGCAGGTTGCAGTGAGCCGAGATGGCTCCATTGCATTCTAGCCTGGACAACAAGAGCGAAACTCCAACTCAAAGAAAAAACAAACAAACAAAAAAAAGGCTGGGCATGGTGGCTCACACCAGTAATCCCAGCACTTTGGCACTTTGGGAGGCCAAGGCACGCAGATCTCTTGAGGTCTGGAGTTCAAGCCCAACATGGGGAAACCCAGTCTGTATTAAAAATACAACAAAAATTGCTGAGGGTGGTAGTGCACACCTGTAGTCCCAGCTACTCAGGAGTCTGAGGCATGAGAATAGCTTGAACCCGGGGGACAGAGGCAAGAATGCACCACTGCACTCCAGCCTGGGTGACAGAATGAGACTCTGTCTCAAAAAAGAAAAGAAAAAAACAACCCAGGTGTGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTTGGATAAGGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTATTAAAAGTATAAAAAATTAGCCGAGTGTGTTGGCAGGCACCTGGAATCCCAGCTACTCAGGAGGCTGGGGCAGGAGAATCCATCCTGGACCACAGTGCAAGACTCCATCTCAAAAAAAGAAGAAACAAACAAAGAAAACAACCCAAGTACAATGACATGGCAGCACCACAGTGTTGGTCAGCCTCGGAAAGCCAGTCCCCCACCATCACTGACATCGCCGCCGGCGGGGTCACGTGCCGGGACCGGGTTCCGGTGTGGAGAGCCCCTCATCCTGGGAAAAGGTGCTGCCAGAAAGGTGGCGCCCCCTCACTCATCACGCAAGTCACGTTGAACCTGATGCTAAACCAATCATAGATGACCCGCTTCTGGGTTGGGGTTTCCTAGGTAGCTAAGCAGATCCCTGGCTGCAATCTATTCAAAGTCAGTCCTTGACACTGGGGTTTGTTTAAAAAAAAAAAAAAGCTTAAAGAAAAAGGAGAAGAAAGAAAAAACTTTTAGTCCACATTAACTTTGAAAATCTTAGTGTTAAATAACCTATAACATCCACATAGATGTGATGAGCCCACTAACTAAAACACTGACAACAAATAAAGTACATTAAACAGGCTGCACCTCAGCATTTCCCATATACCTGAACCTGCTGCGGCTGCTGAACCTGGATCTGCTGTTCTTGCTGGGTTTGTGGCTGAACACTGGTGGTGACTGGACAGGCAAGTTCAAGCAAAGACCCAGCCACTTCAGTGCTGTCTGTGTATATGCAGTTCCCACCCTGTTGGTACACCATGGTAGTGGTGGCTGTCTGCTGAACTCCTGAAGGGCTTCTGGCCCCTTAGAGGCCAGTGAGTCCAGAAATTCCTTCATCCTGTGTTGCGGGACAGACCGTGCCTTTACTCGGATGTACTCTTCAAAGGAGATGGTGTTCTCTAGGGAATTATTCATATTGCAGAGTCCTTAGGGTTCCTAGAAATAAACAGAAGTCAAAATTATGTTACTGTTTTTAGCAGGAAATGCCCAGAAGCAATTACCCTTGCACAAGAGTGGAATATATTCAGGGCAGCTGTATACATATAGAATCAAAAAATAAAGTTTTATTATACCACCTTATTTTTTCAATTAATGGATGTTTGAAAATTATTTCTATTAACATTTCTTAAATAAAACTATCACACTGAAAACAAAAAAACAAACACATGCTTCACAATACTGGATGAAACAGGCTGAAAACACACTTCCTACCCAGCACTAGGTCAATCCCATCTTCTCTGCAGAGCCAAGCACTGGACAGTAAATGTCACATGCAAAACTGCTCTGTGACCATCACAGAGAGGACACCAAGCAAGGAGGAAGCTAGGGGCAGGGATTCCTATGGATATGTTTTATTTCCAAGTATTTCCTACAGCAGAGATAGGTATGCCACCTAGTTGTGGCAAGACACAAGAGGCAGAGGATATGTTCTTCATCTCCCATCAGAAAAACCAAAAATCCTATTTTGCCATGTGGTGCTCACATTCTTTTGCAACACAGCTTACTACTGGTTAAAAGCATGGACTCTGGAGCCAGGCTGCCTGGGTTCAAATCCCAACTTTATGTCTCCTTTATTATGTAACTCTAGAAAAGTCAATTAACCTTAGTTTTCTTGTGAGTAAATGGGGACACAATAGTACTTACCTCACAGTTGACATAAGGATTAAATAAGGCATTTAGAAAATCATCTAGCACATAGATAGCACTACAGAAATGTAACTAATACTATTAAAATAATTCTGGAAAAAAGGTAAATAGTGCTTTAAATATCCAGGTCACTACTAAAATTCAGAAATAAATTCTACAAGTTTTCATCAGGTATTTAATTACCTTAAGAATTAACCTGCAGACGTACAGTTAACTCTCATCATCTGAGGGAAAAGTGTGCAATCTGTGGACTGCTGACCCCTGTCGCTGCTACCTTTGTACCATCCTCCCTTCAACAGCCCGACCTCCAGAACAAAAGTAGCAGCAGGATGAAAGAGTAACAGAAAACAAGCGAACGTTTTTGCCAAAAAGGATTATCAGACAATTCTGAATGTCTGGAAAGGTGATTTGTTCCCTTGAGCAATCAGGATAGATACACTAGACTGACCAGATGCTCTACCTTATGTTACAGATATAAAATATGTGGGTAAACGTCTCCTTTCTTCTACCTAGGCTCTAAGTTCTTGGTAGACAAGACTATGTCCTGGTTCTCTCCGAATAGCTCACCCATGGTAGTTGCTTCATATATACCTGCTGCATTTGAAATTCAATGTGGAAAACGAAGAATTATGGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGCTTGATCTTGGCTCACTGCAAGCTCCACCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGAGGTTTCCCCATCTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCACACCTGTCCTTTTTTTTTTTTTTTTTTTTTGAGTTGGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCAGCTAATTTATGTATTTTTAGTAGAGACTGGGTTTTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGACTTCAGGN
pathogenic
68,398
For chromosome 3, position 49098499, gene QARS1 (glutaminyl-tRNA synthetase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
benign
GTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGCGGATCATGAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATAGAAAAAATTAGCTGGGAGTGGTGGCGGGCGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACATGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGCCGGGCGTGGTAGCATGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATGGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGGGCCGAGATCGTGCCACTGTACTCCAGCCTGGGCAACAGGGCGAGATACTGTTTCAAAAAAAGAAAAAAAAAAAAAAAAGGATGGCAGGGTGGCTGGGCACAGTGGCTCATGCCTATAATCCCAGCACTCTAGGAGGCTGAGACAGGAGGACTGCTTGAAGCCAGTAATTCAAGACCAACCTGGGCAACATAGTGAGAACTTGCCTCTACAAAAAGTTTTAAAATTAGCCAGGCATGGTAGTGTGCACATGTAGTCTCAGCTAAGGCAGGAGAATAGCTTGAGCCCAGTAGTTTGAGGCCACAGTGAGCTATGATTGCACCACTTCACACCACCCTGGGCAAGAGTAAGACCCCGTCTCTAAAATAAATAAAAAGAAAGGTTATTAGCTGCCTTAACGAAAGATATTAAAAATAATATCTTTCGGGTGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCTGGTGGTAAGCCCTGACCTCTGGTGATCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACCATGCCCTGCCTCAAAAAATAATAATTAAAAAAAAAAAAGAGGTCGGGTGCAGTGGCTCATGACTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAAGTCAGGAATTCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTCGAAGGGTTTTGCCAGGGCCACAGAGCAGTCCACTAATGCTGCATCCACCACGTGTAGTGATGCCTGCAGGCAGGGAACTCAGGCAACCATCCAACCAGGGAGGCCTACCTCCCTCACCCCAAACCTCATGAACCTACCAGGTTCAGGTCACTTAAAAATCCACCAGGCACCTCAGTAGGATCTTCAGGGTTCTTGTGCTGGAATCTGCAGCCAAAGTGAAGGTCATACCCCCAGCTGGGCAGCCATAGCAGGCAATGTGCATCTTGTACCTGCCCCCACCCCAGCTCTGTTCACTCACAGTCGCTCATAGAGGCGAACCTCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACATGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCATACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGTCAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCA
GTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGCGGATCATGAGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATAGAAAAAATTAGCTGGGAGTGGTGGCGGGCGCCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACATGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTGCCGGGCGTGGTAGCATGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATGGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGGGCCGAGATCGTGCCACTGTACTCCAGCCTGGGCAACAGGGCGAGATACTGTTTCAAAAAAAGAAAAAAAAAAAAAAAAGGATGGCAGGGTGGCTGGGCACAGTGGCTCATGCCTATAATCCCAGCACTCTAGGAGGCTGAGACAGGAGGACTGCTTGAAGCCAGTAATTCAAGACCAACCTGGGCAACATAGTGAGAACTTGCCTCTACAAAAAGTTTTAAAATTAGCCAGGCATGGTAGTGTGCACATGTAGTCTCAGCTAAGGCAGGAGAATAGCTTGAGCCCAGTAGTTTGAGGCCACAGTGAGCTATGATTGCACCACTTCACACCACCCTGGGCAAGAGTAAGACCCCGTCTCTAAAATAAATAAAAAGAAAGGTTATTAGCTGCCTTAACGAAAGATATTAAAAATAATATCTTTCGGGTGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCTGGTGGTAAGCCCTGACCTCTGGTGATCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACCATGCCCTGCCTCAAAAAATAATAATTAAAAAAAAAAAAGAGGTCGGGTGCAGTGGCTCATGACTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAAGTCAGGAATTCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTCGAAGGGTTTTGCCAGGGCCACAGAGCAGTCCACTAATGCTGCATCCACCACGTGTAGTGATGCCTGCAGGCAGGGAACTCAGGCAACCATCCAACCAGGGAGGCCTACCTCCCTCACCCCAAACCTCATGAACCTACCAGGTTCAGGTCACTTAAAAATCCACCAGGCACCTCAGTAGGATCTTCAGGGTTCTTGTGCTGGAATCTGCAGCCAAAGTGAAGGTCATACCCCCAGCTGGGCAGCCATAGCAGGCAATGTGCATCTTGTACCTGCCCCCACCCCAGCTCTGTTCACTCACAGTCGCTCATAGAGGCGAACCTCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACATGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCATACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGTCAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCANNN
benign
68,409
Considering the variant on chromosome 3, location 49098995, involving gene QARS1 (glutaminyl-tRNA synthetase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
benign
TGTACTCCAGCCTGGGCAACAGGGCGAGATACTGTTTCAAAAAAAGAAAAAAAAAAAAAAAAGGATGGCAGGGTGGCTGGGCACAGTGGCTCATGCCTATAATCCCAGCACTCTAGGAGGCTGAGACAGGAGGACTGCTTGAAGCCAGTAATTCAAGACCAACCTGGGCAACATAGTGAGAACTTGCCTCTACAAAAAGTTTTAAAATTAGCCAGGCATGGTAGTGTGCACATGTAGTCTCAGCTAAGGCAGGAGAATAGCTTGAGCCCAGTAGTTTGAGGCCACAGTGAGCTATGATTGCACCACTTCACACCACCCTGGGCAAGAGTAAGACCCCGTCTCTAAAATAAATAAAAAGAAAGGTTATTAGCTGCCTTAACGAAAGATATTAAAAATAATATCTTTCGGGTGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCTGGTGGTAAGCCCTGACCTCTGGTGATCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACCATGCCCTGCCTCAAAAAATAATAATTAAAAAAAAAAAAGAGGTCGGGTGCAGTGGCTCATGACTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAAGTCAGGAATTCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTCGAAGGGTTTTGCCAGGGCCACAGAGCAGTCCACTAATGCTGCATCCACCACGTGTAGTGATGCCTGCAGGCAGGGAACTCAGGCAACCATCCAACCAGGGAGGCCTACCTCCCTCACCCCAAACCTCATGAACCTACCAGGTTCAGGTCACTTAAAAATCCACCAGGCACCTCAGTAGGATCTTCAGGGTTCTTGTGCTGGAATCTGCAGCCAAAGTGAAGGTCATACCCCCAGCTGGGCAGCCATAGCAGGCAATGTGCATCTTGTACCTGCCCCCACCCCAGCTCTGTTCACTCACAGTCGCTCATAGAGGCGAACCTCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACATGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCATACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGTCAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCAGCCCTTCTAGGCTTTGCCTAGTCCATACCTAGCCAGGCTACCATGTCACAGATGGCCGTGAAGAACTTTGCTTCCTCCTTCTCAGGGTTGGTGTCATCAAAACGCAGAAAACAGATGCCATTGTTGGCCTAGGAAAGTTGCACCATCTGTGAACTCCCACATCATCCATCAGCCCCACAATCCTGTTTATCAAACTAGGATATTCACAGAGCACTCTCATGTCAGAATTTTCTTTTTTTTTGAGATGGAGTCTTGATTATCTTGCACCATCTTGGCTCACTGCAGCCTCCACCTCCTGGGTTTCTCCTGCCTCAGCTTCCCAGTAGCTGAAACTACAAGCGTGTGCCACCATGGCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATTGGTTTCGAACTCCTGACCTCAAGTGATCCACCCACTTTAGCCTCCCGAAGTGTTGAGATTACAGGCGTGAGCCACCCAACCCGGACT
TGTACTCCAGCCTGGGCAACAGGGCGAGATACTGTTTCAAAAAAAGAAAAAAAAAAAAAAAAGGATGGCAGGGTGGCTGGGCACAGTGGCTCATGCCTATAATCCCAGCACTCTAGGAGGCTGAGACAGGAGGACTGCTTGAAGCCAGTAATTCAAGACCAACCTGGGCAACATAGTGAGAACTTGCCTCTACAAAAAGTTTTAAAATTAGCCAGGCATGGTAGTGTGCACATGTAGTCTCAGCTAAGGCAGGAGAATAGCTTGAGCCCAGTAGTTTGAGGCCACAGTGAGCTATGATTGCACCACTTCACACCACCCTGGGCAAGAGTAAGACCCCGTCTCTAAAATAAATAAAAAGAAAGGTTATTAGCTGCCTTAACGAAAGATATTAAAAATAATATCTTTCGGGTGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCTGGTGGTAAGCCCTGACCTCTGGTGATCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACCATGCCCTGCCTCAAAAAATAATAATTAAAAAAAAAAAAGAGGTCGGGTGCAGTGGCTCATGACTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAAGTCAGGAATTCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTCGAAGGGTTTTGCCAGGGCCACAGAGCAGTCCACTAATGCTGCATCCACCACGTGTAGTGATGCCTGCAGGCAGGGAACTCAGGCAACCATCCAACCAGGGAGGCCTACCTCCCTCACCCCAAACCTCATGAACCTACCAGGTTCAGGTCACTTAAAAATCCACCAGGCACCTCAGTAGGATCTTCAGGGTTCTTGTGCTGGAATCTGCAGCCAAAGTGAAGGTCATACCCCCAGCTGGGCAGCCATAGCAGGCAATGTGCATCTTGTACCTGCCCCCACCCCAGCTCTGTTCACTCACAGTCGCTCATAGAGGCGAACCTCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACATGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCATACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGTCAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCAGCCCTTCTAGGCTTTGCCTAGTCCATACCTAGCCAGGCTACCATGTCACAGATGGCCGTGAAGAACTTTGCTTCCTCCTTCTCAGGGTTGGTGTCATCAAAACGCAGAAAACAGATGCCATTGTTGGCCTAGGAAAGTTGCACCATCTGTGAACTCCCACATCATCCATCAGCCCCACAATCCTGTTTATCAAACTAGGATATTCACAGAGCACTCTCATGTCAGAATTTTCTTTTTTTTTGAGATGGAGTCTTGATTATCTTGCACCATCTTGGCTCACTGCAGCCTCCACCTCCTGGGTTTCTCCTGCCTCAGCTTCCCAGTAGCTGAAACTACAAGCGTGTGCCACCATGGCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATTGGTTTCGAACTCCTGACCTCAAGTGATCCACCCACTTTAGCCTCCCGAAGTGTTGAGATTACAGGCGTGAGCCACCCAACCCGGACTNNNNNNN
benign
68,418
Variant on chromosome 3, at position 49099091, affecting QARS1 (glutaminyl-tRNA synthetase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
CTATAATCCCAGCACTCTAGGAGGCTGAGACAGGAGGACTGCTTGAAGCCAGTAATTCAAGACCAACCTGGGCAACATAGTGAGAACTTGCCTCTACAAAAAGTTTTAAAATTAGCCAGGCATGGTAGTGTGCACATGTAGTCTCAGCTAAGGCAGGAGAATAGCTTGAGCCCAGTAGTTTGAGGCCACAGTGAGCTATGATTGCACCACTTCACACCACCCTGGGCAAGAGTAAGACCCCGTCTCTAAAATAAATAAAAAGAAAGGTTATTAGCTGCCTTAACGAAAGATATTAAAAATAATATCTTTCGGGTGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCTGGTGGTAAGCCCTGACCTCTGGTGATCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACCATGCCCTGCCTCAAAAAATAATAATTAAAAAAAAAAAAGAGGTCGGGTGCAGTGGCTCATGACTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAAGTCAGGAATTCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTCGAAGGGTTTTGCCAGGGCCACAGAGCAGTCCACTAATGCTGCATCCACCACGTGTAGTGATGCCTGCAGGCAGGGAACTCAGGCAACCATCCAACCAGGGAGGCCTACCTCCCTCACCCCAAACCTCATGAACCTACCAGGTTCAGGTCACTTAAAAATCCACCAGGCACCTCAGTAGGATCTTCAGGGTTCTTGTGCTGGAATCTGCAGCCAAAGTGAAGGTCATACCCCCAGCTGGGCAGCCATAGCAGGCAATGTGCATCTTGTACCTGCCCCCACCCCAGCTCTGTTCACTCACAGTCGCTCATAGAGGCGAACCTCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACATGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCATACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGTCAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCAGCCCTTCTAGGCTTTGCCTAGTCCATACCTAGCCAGGCTACCATGTCACAGATGGCCGTGAAGAACTTTGCTTCCTCCTTCTCAGGGTTGGTGTCATCAAAACGCAGAAAACAGATGCCATTGTTGGCCTAGGAAAGTTGCACCATCTGTGAACTCCCACATCATCCATCAGCCCCACAATCCTGTTTATCAAACTAGGATATTCACAGAGCACTCTCATGTCAGAATTTTCTTTTTTTTTGAGATGGAGTCTTGATTATCTTGCACCATCTTGGCTCACTGCAGCCTCCACCTCCTGGGTTTCTCCTGCCTCAGCTTCCCAGTAGCTGAAACTACAAGCGTGTGCCACCATGGCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATTGGTTTCGAACTCCTGACCTCAAGTGATCCACCCACTTTAGCCTCCCGAAGTGTTGAGATTACAGGCGTGAGCCACCCAACCCGGACTCATGTCAGAATTAAAAATGTCTTCAAGAGCTTCTCTCACCTTCCTGTATCTAACCTAGCATCTTTCTAAGCCTAGGGACTGCACTGGCAACTCCCC
CTATAATCCCAGCACTCTAGGAGGCTGAGACAGGAGGACTGCTTGAAGCCAGTAATTCAAGACCAACCTGGGCAACATAGTGAGAACTTGCCTCTACAAAAAGTTTTAAAATTAGCCAGGCATGGTAGTGTGCACATGTAGTCTCAGCTAAGGCAGGAGAATAGCTTGAGCCCAGTAGTTTGAGGCCACAGTGAGCTATGATTGCACCACTTCACACCACCCTGGGCAAGAGTAAGACCCCGTCTCTAAAATAAATAAAAAGAAAGGTTATTAGCTGCCTTAACGAAAGATATTAAAAATAATATCTTTCGGGTGTTTCACCATGTTGGCCAGGGTGGTCTCGAACTCCTGACCTCTGGTGGTAAGCCCTGACCTCTGGTGATCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACCATGCCCTGCCTCAAAAAATAATAATTAAAAAAAAAAAAGAGGTCGGGTGCAGTGGCTCATGACTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAAGTCAGGAATTCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTCGAAGGGTTTTGCCAGGGCCACAGAGCAGTCCACTAATGCTGCATCCACCACGTGTAGTGATGCCTGCAGGCAGGGAACTCAGGCAACCATCCAACCAGGGAGGCCTACCTCCCTCACCCCAAACCTCATGAACCTACCAGGTTCAGGTCACTTAAAAATCCACCAGGCACCTCAGTAGGATCTTCAGGGTTCTTGTGCTGGAATCTGCAGCCAAAGTGAAGGTCATACCCCCAGCTGGGCAGCCATAGCAGGCAATGTGCATCTTGTACCTGCCCCCACCCCAGCTCTGTTCACTCACAGTCGCTCATAGAGGCGAACCTCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCATACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGTCAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCAGCCCTTCTAGGCTTTGCCTAGTCCATACCTAGCCAGGCTACCATGTCACAGATGGCCGTGAAGAACTTTGCTTCCTCCTTCTCAGGGTTGGTGTCATCAAAACGCAGAAAACAGATGCCATTGTTGGCCTAGGAAAGTTGCACCATCTGTGAACTCCCACATCATCCATCAGCCCCACAATCCTGTTTATCAAACTAGGATATTCACAGAGCACTCTCATGTCAGAATTTTCTTTTTTTTTGAGATGGAGTCTTGATTATCTTGCACCATCTTGGCTCACTGCAGCCTCCACCTCCTGGGTTTCTCCTGCCTCAGCTTCCCAGTAGCTGAAACTACAAGCGTGTGCCACCATGGCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATTGGTTTCGAACTCCTGACCTCAAGTGATCCACCCACTTTAGCCTCCCGAAGTGTTGAGATTACAGGCGTGAGCCACCCAACCCGGACTCATGTCAGAATTAAAAATGTCTTCAAGAGCTTCTCTCACCTTCCTGTATCTAACCTAGCATCTTTCTAAGCCTAGGGACTGCACTGGCAACTCCCCNN
benign
68,419
Evaluate this variant at chromosome 3, position 49099584, gene QARS1 (glutaminyl-tRNA synthetase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome']
ACTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAAGTCAGGAATTCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTCGAAGGGTTTTGCCAGGGCCACAGAGCAGTCCACTAATGCTGCATCCACCACGTGTAGTGATGCCTGCAGGCAGGGAACTCAGGCAACCATCCAACCAGGGAGGCCTACCTCCCTCACCCCAAACCTCATGAACCTACCAGGTTCAGGTCACTTAAAAATCCACCAGGCACCTCAGTAGGATCTTCAGGGTTCTTGTGCTGGAATCTGCAGCCAAAGTGAAGGTCATACCCCCAGCTGGGCAGCCATAGCAGGCAATGTGCATCTTGTACCTGCCCCCACCCCAGCTCTGTTCACTCACAGTCGCTCATAGAGGCGAACCTCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACATGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCATACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGTCAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCAGCCCTTCTAGGCTTTGCCTAGTCCATACCTAGCCAGGCTACCATGTCACAGATGGCCGTGAAGAACTTTGCTTCCTCCTTCTCAGGGTTGGTGTCATCAAAACGCAGAAAACAGATGCCATTGTTGGCCTAGGAAAGTTGCACCATCTGTGAACTCCCACATCATCCATCAGCCCCACAATCCTGTTTATCAAACTAGGATATTCACAGAGCACTCTCATGTCAGAATTTTCTTTTTTTTTGAGATGGAGTCTTGATTATCTTGCACCATCTTGGCTCACTGCAGCCTCCACCTCCTGGGTTTCTCCTGCCTCAGCTTCCCAGTAGCTGAAACTACAAGCGTGTGCCACCATGGCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATTGGTTTCGAACTCCTGACCTCAAGTGATCCACCCACTTTAGCCTCCCGAAGTGTTGAGATTACAGGCGTGAGCCACCCAACCCGGACTCATGTCAGAATTAAAAATGTCTTCAAGAGCTTCTCTCACCTTCCTGTATCTAACCTAGCATCTTTCTAAGCCTAGGGACTGCACTGGCAACTCCCCCAAATTTGAACTCACTGACTCCTCAGAGGGAGGGAGCTATTTATTCCAATAAGCTCAATAGATTCCTAGGTATCTGTCACACATGTGGTTCCTTTCCATGGCCTCTGCCCACCTGGGTACATTATTGGGAGCAGACAGCAAGGCAGGGATATGGTATCCACTCATGGGAACAGCAAGTGGTCATCTTGCTTGCCAGGTCCCTAGACACATGCTTACCTTGGCATAGCCAAAGTTGAAATTGATGGCTTTGGCATGTCCAATATGCAGGATTCCATTGGGTTCTGGCGGGAACCGGGTACGTACCTAAAATAAGGGGGATGGGAAAAGAGAAATAAAGTCTGAGCTCAGATGACCTTAAAGAAACAGATGTTCCCTCCCAGGAAGGCCATGGTGATGGGTGAGATGGGGCAGTATGGACGCAGCCCAGGCACTCAGGCAGGTGTTTGATGGCACAAGCTCACATGGCCACATCCCCACACACCTGCCCACCAGT
ACTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAAGTCAGGAATTCGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTCGAAGGGTTTTGCCAGGGCCACAGAGCAGTCCACTAATGCTGCATCCACCACGTGTAGTGATGCCTGCAGGCAGGGAACTCAGGCAACCATCCAACCAGGGAGGCCTACCTCCCTCACCCCAAACCTCATGAACCTACCAGGTTCAGGTCACTTAAAAATCCACCAGGCACCTCAGTAGGATCTTCAGGGTTCTTGTGCTGGAATCTGCAGCCAAAGTGAAGGTCATACCCCCAGCTGGGCAGCCATAGCAGGCAATGTGCATCTTGTACCTGCCCCCACCCCAGCTCTGTTCACTCACAGTCGCTCATAGAGGCGAACCTCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACATGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCAACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGTCAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCAGCCCTTCTAGGCTTTGCCTAGTCCATACCTAGCCAGGCTACCATGTCACAGATGGCCGTGAAGAACTTTGCTTCCTCCTTCTCAGGGTTGGTGTCATCAAAACGCAGAAAACAGATGCCATTGTTGGCCTAGGAAAGTTGCACCATCTGTGAACTCCCACATCATCCATCAGCCCCACAATCCTGTTTATCAAACTAGGATATTCACAGAGCACTCTCATGTCAGAATTTTCTTTTTTTTTGAGATGGAGTCTTGATTATCTTGCACCATCTTGGCTCACTGCAGCCTCCACCTCCTGGGTTTCTCCTGCCTCAGCTTCCCAGTAGCTGAAACTACAAGCGTGTGCCACCATGGCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATTGGTTTCGAACTCCTGACCTCAAGTGATCCACCCACTTTAGCCTCCCGAAGTGTTGAGATTACAGGCGTGAGCCACCCAACCCGGACTCATGTCAGAATTAAAAATGTCTTCAAGAGCTTCTCTCACCTTCCTGTATCTAACCTAGCATCTTTCTAAGCCTAGGGACTGCACTGGCAACTCCCCCAAATTTGAACTCACTGACTCCTCAGAGGGAGGGAGCTATTTATTCCAATAAGCTCAATAGATTCCTAGGTATCTGTCACACATGTGGTTCCTTTCCATGGCCTCTGCCCACCTGGGTACATTATTGGGAGCAGACAGCAAGGCAGGGATATGGTATCCACTCATGGGAACAGCAAGTGGTCATCTTGCTTGCCAGGTCCCTAGACACATGCTTACCTTGGCATAGCCAAAGTTGAAATTGATGGCTTTGGCATGTCCAATATGCAGGATTCCATTGGGTTCTGGCGGGAACCGGGTACGTACCTAAAATAAGGGGGATGGGAAAAGAGAAATAAAGTCTGAGCTCAGATGACCTTAAAGAAACAGATGTTCCCTCCCAGGAAGGCCATGGTGATGGGTGAGATGGGGCAGTATGGACGCAGCCCAGGCACTCAGGCAGGTGTTTGATGGCACAAGCTCACATGGCCACATCCCCACACACCTGCCCACCAGTN
pathogenic
68,429
Clinically, how would you classify the variant at chromosome 3, position 49099783, gene QARS1 (glutaminyl-tRNA synthetase 1): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome']
GCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTCGAAGGGTTTTGCCAGGGCCACAGAGCAGTCCACTAATGCTGCATCCACCACGTGTAGTGATGCCTGCAGGCAGGGAACTCAGGCAACCATCCAACCAGGGAGGCCTACCTCCCTCACCCCAAACCTCATGAACCTACCAGGTTCAGGTCACTTAAAAATCCACCAGGCACCTCAGTAGGATCTTCAGGGTTCTTGTGCTGGAATCTGCAGCCAAAGTGAAGGTCATACCCCCAGCTGGGCAGCCATAGCAGGCAATGTGCATCTTGTACCTGCCCCCACCCCAGCTCTGTTCACTCACAGTCGCTCATAGAGGCGAACCTCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACATGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCATACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGTCAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCAGCCCTTCTAGGCTTTGCCTAGTCCATACCTAGCCAGGCTACCATGTCACAGATGGCCGTGAAGAACTTTGCTTCCTCCTTCTCAGGGTTGGTGTCATCAAAACGCAGAAAACAGATGCCATTGTTGGCCTAGGAAAGTTGCACCATCTGTGAACTCCCACATCATCCATCAGCCCCACAATCCTGTTTATCAAACTAGGATATTCACAGAGCACTCTCATGTCAGAATTTTCTTTTTTTTTGAGATGGAGTCTTGATTATCTTGCACCATCTTGGCTCACTGCAGCCTCCACCTCCTGGGTTTCTCCTGCCTCAGCTTCCCAGTAGCTGAAACTACAAGCGTGTGCCACCATGGCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATTGGTTTCGAACTCCTGACCTCAAGTGATCCACCCACTTTAGCCTCCCGAAGTGTTGAGATTACAGGCGTGAGCCACCCAACCCGGACTCATGTCAGAATTAAAAATGTCTTCAAGAGCTTCTCTCACCTTCCTGTATCTAACCTAGCATCTTTCTAAGCCTAGGGACTGCACTGGCAACTCCCCCAAATTTGAACTCACTGACTCCTCAGAGGGAGGGAGCTATTTATTCCAATAAGCTCAATAGATTCCTAGGTATCTGTCACACATGTGGTTCCTTTCCATGGCCTCTGCCCACCTGGGTACATTATTGGGAGCAGACAGCAAGGCAGGGATATGGTATCCACTCATGGGAACAGCAAGTGGTCATCTTGCTTGCCAGGTCCCTAGACACATGCTTACCTTGGCATAGCCAAAGTTGAAATTGATGGCTTTGGCATGTCCAATATGCAGGATTCCATTGGGTTCTGGCGGGAACCGGGTACGTACCTAAAATAAGGGGGATGGGAAAAGAGAAATAAAGTCTGAGCTCAGATGACCTTAAAGAAACAGATGTTCCCTCCCAGGAAGGCCATGGTGATGGGTGAGATGGGGCAGTATGGACGCAGCCCAGGCACTCAGGCAGGTGTTTGATGGCACAAGCTCACATGGCCACATCCCCACACACCTGCCCACCAGTAATCTCCAGGTGCTGCTTTAGTAGATTCATGGTGTGTGGAGTGACCACATAGCCTGGGGTCTTGTAGTTCTCACCTGCCAGGACCAGAATAAGCCTAAGGACCAGGCTGCAGCCAAAGCCTCTGACCCCAGGGGCCTGACTATAGGAGCTGCTGCCAAGATCCAGCCCTCCCCAGGGTTTTGACATGCCCACTAACCAG
GCAGTGAGCCGAGATGGTGCCATTGCACTCCAGCCCCGGGCGACAGTGCAAGACTGTCTCAAAAAAAAAGGCAGCCTTCATACAAAATTTTGTGCCTGGAGTTATCCTCAGTGCCAGTTTCCTCACTAGTAGAATATGAATACCAACTCCCTCAGGTGGTGAGGATTAACTAAGGGAATGTATGCAGAGCACTTGGCACAATGAACGGCAGCCACTGTCACTGCTGCAGATGAGGGCAGGTGAGTAAAGTCAAGCACCTTTCCCTGATGGCTGTCTGGATCCACGGAGAAATATCCAAGACGCTCAAACTGGAACTTGTCGAAGGGTTTTGCCAGGGCCACAGAGCAGTCCACTAATGCTGCATCCACCACGTGTAGTGATGCCTGCAGGCAGGGAACTCAGGCAACCATCCAACCAGGGAGGCCTACCTCCCTCACCCCAAACCTCATGAACCTACCAGGTTCAGGTCACTTAAAAATCCACCAGGCACCTCAGTAGGATCTTCAGGGTTCTTGTGCTGGAATCTGCAGCCAAAGTGAAGGTCATACCCCCAGCTGGGCAGCCATAGCAGGCAATGTGCATCTTGTACCTGCCCCCACCCCAGCTCTGTTCACTCACAGTCGCTCATAGAGGCGAACCTCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACATGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCATACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGTCAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCAGCCCTTCTAGGCTTTGCCTAGTCCATACCTAGCCAGGCTACCATGTCACAGATGGCCGTGAAGAACTTTGCTTCCTCCTTCTCAGGGTTGGTGTCATCAAAACGCAGAAAACAGATGCCATTGTTGGCCTAGGAAAGTTGCACCATCTGTGAACTCCCACATCATCCATCAGCCCCACAATCCTGTTTATCAAACTAGGATATTCACAGAGCACTCTCATGTCAGAATTTTCTTTTTTTTTGAGATGGAGTCTTGATTATCTTGCACCATCTTGGCTCACTGCAGCCTCCACCTCCTGGGTTTCTCCTGCCTCAGCTTCCCAGTAGCTGAAACTACAAGCGTGTGCCACCATGGCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATTGGTTTCGAACTCCTGACCTCAAGTGATCCACCCACTTTAGCCTCCCGAAGTGTTGAGATTACAGGCGTGAGCCACCCAACCCGGACTCATGTCAGAATTAAAAATGTCTTCAAGAGCTTCTCTCACCTTCCTGTATCTAACCTAGCATCTTTCTAAGCCTAGGGACTGCACTGGCAACTCCCCCAAATTTGAACTCACTGACTCCTCAGAGGGAGGGAGCTATTTATTCCAATAAGCTCAATAGATTCCTAGGTATCTGTCACACATGTGGTTCCTTTCCATGGCCTCTGCCCACCTGGGTACATTATTGGGAGCAGACAGCAAGGCAGGGATATGGTATCCACTCATGGGAACAGCAAGTGGTCATCTTGCTTGCCAGGTCCCTAGACACATGCTTACCTTGGCATAGCCAAAGTTGAAATTGATGGCTTTGGCATGTCCAATATGCAGGATTCCATTGGGTTCTGGCGGGAACCGGGTACGTACCTAAAATAAGGGGGATGGGAAAAGAGAAATAAAGTCTGAGCTCAGATGACCTTAAAGAAACAGATGTTCCCTCCCAGGAAGGCCATGGTGATGGGTGAGATGGGGCAGTATGGACGCAGCCCAGGCACTCAGGCAGGTGTTTGATGGCACAAGCTCACATGGCCACATCCCCACACACCTGCCCACCAGTAATCTCCAGGTGCTGCTTTAGTAGATTCATGGTGTGTGGAGTGACCACATAGCCTGGGGTCTTGTAGTTCTCACCTGCCAGGACCAGAATAAGCCTAAGGACCAGGCTGCAGCCAAAGCCTCTGACCCCAGGGGCCTGACTATAGGAGCTGCTGCCAAGATCCAGCCCTCCCCAGGGTTTTGACATGCCCACTAACCAGNNNN
pathogenic
68,433
Does the variant impacting QARS1 (glutaminyl-tRNA synthetase 1) on chromosome 3, position 49100422, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Diffuse_cerebral_and_cerebellar_atrophy_-_intractable_seizures_-_progressive_microcephaly_syndrome']
TCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACATGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCATACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGTCAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCAGCCCTTCTAGGCTTTGCCTAGTCCATACCTAGCCAGGCTACCATGTCACAGATGGCCGTGAAGAACTTTGCTTCCTCCTTCTCAGGGTTGGTGTCATCAAAACGCAGAAAACAGATGCCATTGTTGGCCTAGGAAAGTTGCACCATCTGTGAACTCCCACATCATCCATCAGCCCCACAATCCTGTTTATCAAACTAGGATATTCACAGAGCACTCTCATGTCAGAATTTTCTTTTTTTTTGAGATGGAGTCTTGATTATCTTGCACCATCTTGGCTCACTGCAGCCTCCACCTCCTGGGTTTCTCCTGCCTCAGCTTCCCAGTAGCTGAAACTACAAGCGTGTGCCACCATGGCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATTGGTTTCGAACTCCTGACCTCAAGTGATCCACCCACTTTAGCCTCCCGAAGTGTTGAGATTACAGGCGTGAGCCACCCAACCCGGACTCATGTCAGAATTAAAAATGTCTTCAAGAGCTTCTCTCACCTTCCTGTATCTAACCTAGCATCTTTCTAAGCCTAGGGACTGCACTGGCAACTCCCCCAAATTTGAACTCACTGACTCCTCAGAGGGAGGGAGCTATTTATTCCAATAAGCTCAATAGATTCCTAGGTATCTGTCACACATGTGGTTCCTTTCCATGGCCTCTGCCCACCTGGGTACATTATTGGGAGCAGACAGCAAGGCAGGGATATGGTATCCACTCATGGGAACAGCAAGTGGTCATCTTGCTTGCCAGGTCCCTAGACACATGCTTACCTTGGCATAGCCAAAGTTGAAATTGATGGCTTTGGCATGTCCAATATGCAGGATTCCATTGGGTTCTGGCGGGAACCGGGTACGTACCTAAAATAAGGGGGATGGGAAAAGAGAAATAAAGTCTGAGCTCAGATGACCTTAAAGAAACAGATGTTCCCTCCCAGGAAGGCCATGGTGATGGGTGAGATGGGGCAGTATGGACGCAGCCCAGGCACTCAGGCAGGTGTTTGATGGCACAAGCTCACATGGCCACATCCCCACACACCTGCCCACCAGTAATCTCCAGGTGCTGCTTTAGTAGATTCATGGTGTGTGGAGTGACCACATAGCCTGGGGTCTTGTAGTTCTCACCTGCCAGGACCAGAATAAGCCTAAGGACCAGGCTGCAGCCAAAGCCTCTGACCCCAGGGGCCTGACTATAGGAGCTGCTGCCAAGATCCAGCCCTCCCCAGGGTTTTGACATGCCCACTAACCAGGCTTGTGGAACTTAAGGGCCTCCCCCCGGAGCTGCTCCATCAGAGACAGGGTCTGGTCAGCAGTCTCGCCTGTGGGGAACAAAACAAGGAAAACTTGTCCTCTAGATACATTTACCATATCCTACAGCCAGAACAGAACTGAGTAGACCCCTATTCCCTCAATTCCAGAGACAAGATATCTAGAGCCAGACATCTGAGGCCTCTCATGCCAGTCTCTGGGCAAAGGGAACAAAAGAAACACCAGGAATCCCAGTCTTGAGACAGAAGTCAGGGTACTGAGTAAGCCAAGGGCCTGAGGAGCCTGTAAGGACTCTTCTGAGGAGGTTCAGAAGTCAGGGAGCTGAATGCTGTGACAGGAGTCTCAAGCTTCTCACCATTCTCCACCACATCCTTTGCCGTCCTCCGGTCTGTTTCTTCTAGCCGAGCTTTTGCCACCTGAAAGAAGCCCCAGGTGCTTCAGAAAATGGCATCAAATTTTCTCTTGGATAGGGTCTTGGGATCCCTGTGGTCAGACACTTCCTTCCCCAGCCTGAAGTCTCACCATACCTCACCTCACCCTCAGGGACTCAGGGCCATGCCCATCCCTACCTTGAACTTCTTCTCCAGATCAGCCTCCAACTTGGGGCCCAGAAGGTGGAG
TCACACATCAAAGGCTGTGACACCCAGTGAATAAAGGCCTTTGGCTTCTCTCCAGCATCTGCCCGTCTGCAGGTCACCTCCAGACTCTCTACACAACCACTGGGGCCCTGGAAGTGGGGGGAGGGGAGCAGCAATTAGACCCGGGAACCACAACCAGGACTGCAGGCTATACTCACATCTTGGCCCCAGCAGGCACTGCAGTAGGAAGGCTGCAGCTGGCTCTCACCTTGACAACATGCTGCAGCTCAATGACGTAGCCTGTATGCCTCAGGCCCACAGGCTGGCCCCAAGCCAGGCGCTTAAATCCTGGCTCTGGCTCCTAGAGATAGGAAGTGGGGTAGACACATGAGGCTGCAAGGGTCAAACAAGTGGGGAAGCTTCCCTACCCCCGTGTCTGGCAAAGATTGGTTCATCTGAAGCAGGAAGTAGATGGACTGACAGAGATGAGGAGATGAAAGGTTCCCAGTACCAGACTCAGCAGCAAACGGGACCCTCCACCCCCACAATTTACCTCCTTGAAGTCAGTCCTCTCAATGAAGACAATGGGTGCAAAGGGAACCTGATGGAAGCCTTTGGTCTCATCAGCTGGGAAGTTGGGCACCTGGATGTCCAAGGACTATAGCAGGAGACAGGAGACAGGTATGAGTCATACTCAGCATTAGGACCCCCATGCCCAGAGCCAAGTGTACCCCCAGCTACACACACACATGTGACACACATGTTGAGGCAGGCCCACCTTGGCAGCAGGAAAGTTGGTGATGATGACCCGTAGTGACTCCAGCACAGCCATGGCTCGTGGGGCTGTGTCATTCAGCACATCACGCACACAGGCTTCTAGAAGATGTGGCTCCATTGTGGTTTGTGCCACAGTCACTCCCACCTGGCAGGAAAGTTCAGCATCAGTCACAGCTACAATCACAAACTGCCACACTCAACCCCCAATGTATCTACCCAACCTGCTGGGCTATACCCGGGCACAGAAGTTGTTGATGGCCTCAGGTGGGAAGCCCCGCCGTCGCAGGGCCGTGAGTGTAAAGAGCCGTGGGTCATCCCAGTCCCTGTGGATAAGAAGGTGGTGAGAAGGCCTTTGGGAGCATATGCCATTAACCTTTCATAAGCCAAACAGCCGCACCTACCGCACAGCACCAGTTGCTACAAGCTGGAGGATCTTCCTCTTAGAGACAACAGCATAGTGCAGGTTGAGGCGGCCATACTCCCACTGCACAGGGCAATAGACGTCCAGTGCATTGCAAAGCCAGAAGTAGGAAGAGCGTCTGGGGTGGGAGAGTAGGGTTAGCACTGGCCAGCTCTGGAACCAGGCAGAGACCACAGGAAGGGCTGCTGGAATTCCACTGGCCCTACCACCCCATGGACCCAGCTCCCTCACCGGGCCTGGAATTCCTTGGTGCAGAGTGAGTGAGTGATGTGCTCGATGGAGTCACAGAGGCAGTGTGTGTAGTCGTAGGTGGGATAGATGCACCTGTGGGGCATAGGCAGTGGGCCCTACCATCCAGCCCTACTCTGCCCTACCCCATGGCCCATCGCCCTGCTCGGCAGCCCCACCACCCCACCCCATTCTACACCCACCATTTGTCCCCTGTGCGGTGGTGTGGTGTATACTTGACTCGATAGGCTACAGGGTCCATCTTGCCATCCTCCATCACCAGCTTCATCCGTAGTGTGGCCTCGCCCTCTGAAAACTTGCCCTTGCGCATTGCCTGAGGGGAACAAGGACTCAGGCTGTCTCTAAGCACAGGAGCATCTCATTCTCAGCACCTTGGCCCACCCAAACCCAGATGCTCCTCTAGGACCCCACCTCAAAGAGCAGCAGTGACTCCTCCATGGGACGGTCTCTCCAGGGTGAAGGCAGAGTATTATGGCCTTTGAGCTCCTCTCCTCGCTGGTGGCACACATAAGCCAGACCCCTGTGGGGAAGCGGTGTGAGTGCCCAGCATGGCTGTGACCTAGTCAGTCTGCCTGGCTCTACGTCATGGCCCTGGCCTTACCTGCGGATGAGCTCCACAGCCCACGCATATAGCTGGTCAAAATAGACGCATATGTGACTTTGTAAGGTGTGTAGCCTGGGGCAAAATGAAACAAAGTATGAGCAGCCAGCCACAAACACCCAGTGGGCAGGCCATGGCCCAAGGAGAGGCCCACTAACCACCAGCCCTTCTAGGCTTTGCCTAGTCCATACCTAGCCAGGCTACCATGTCACAGATGGCCGTGAAGAACTTTGCTTCCTCCTTCTCAGGGTTGGTGTCATCAAAACGCAGAAAACAGATGCCATTGTTGGCCTAGGAAAGTTGCACCATCTGTGAACTCCCACATCATCCATCAGCCCCACAATCCTGTTTATCAAACTAGGATATTCACAGAGCACTCTCATGTCAGAATTTTCTTTTTTTTTGAGATGGAGTCTTGATTATCTTGCACCATCTTGGCTCACTGCAGCCTCCACCTCCTGGGTTTCTCCTGCCTCAGCTTCCCAGTAGCTGAAACTACAAGCGTGTGCCACCATGGCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGATTGGTTTCGAACTCCTGACCTCAAGTGATCCACCCACTTTAGCCTCCCGAAGTGTTGAGATTACAGGCGTGAGCCACCCAACCCGGACTCATGTCAGAATTAAAAATGTCTTCAAGAGCTTCTCTCACCTTCCTGTATCTAACCTAGCATCTTTCTAAGCCTAGGGACTGCACTGGCAACTCCCCCAAATTTGAACTCACTGACTCCTCAGAGGGAGGGAGCTATTTATTCCAATAAGCTCAATAGATTCCTAGGTATCTGTCACACATGTGGTTCCTTTCCATGGCCTCTGCCCACCTGGGTACATTATTGGGAGCAGACAGCAAGGCAGGGATATGGTATCCACTCATGGGAACAGCAAGTGGTCATCTTGCTTGCCAGGTCCCTAGACACATGCTTACCTTGGCATAGCCAAAGTTGAAATTGATGGCTTTGGCATGTCCAATATGCAGGATTCCATTGGGTTCTGGCGGGAACCGGGTACGTACCTAAAATAAGGGGGATGGGAAAAGAGAAATAAAGTCTGAGCTCAGATGACCTTAAAGAAACAGATGTTCCCTCCCAGGAAGGCCATGGTGATGGGTGAGATGGGGCAGTATGGACGCAGCCCAGGCACTCAGGCAGGTGTTTGATGGCACAAGCTCACATGGCCACATCCCCACACACCTGCCCACCAGTAATCTCCAGGTGCTGCTTTAGTAGATTCATGGTGTGTGGAGTGACCACATAGCCTGGGGTCTTGTAGTTCTCACCTGCCAGGACCAGAATAAGCCTAAGGACCAGGCTGCAGCCAAAGCCTCTGACCCCAGGGGCCTGACTATAGGAGCTGCTGCCAAGATCCAGCCCTCCCCAGGGTTTTGACATGCCCACTAACCAGGCTTGTGGAACTTAAGGGCCTCCCCCCGGAGCTGCTCCATCAGAGACAGGGTCTGGTCAGCAGTCTCGCCTGTGGGGAACAAAACAAGGAAAACTTGTCCTCTAGATACATTTACCATATCCTACAGCCAGAACAGAACTGAGTAGACCCCTATTCCCTCAATTCCAGAGACAAGATATCTAGAGCCAGACATCTGAGGCCTCTCATGCCAGTCTCTGGGCAAAGGGAACAAAAGAAACACCAGGAATCCCAGTCTTGAGACAGAAGTCAGGGTACTGAGTAAGCCAAGGGCCTGAGGAGCCTGTAAGGACTCTTCTGAGGAGGTTCAGAAGTCAGGGAGCTGAATGCTGTGACAGGAGTCTCAAGCTTCTCACCATTCTCCACCACATCCTTTGCCGTCCTCCGGTCTGTTTCTTCTAGCCGAGCTTTTGCCACCTGAAAGAAGCCCCAGGTGCTTCAGAAAATGGCATCAAATTTTCTCTTGGATAGGGTCTTGGGATCCCTGTGGTCAGACACTTCCTTCCCCAGCCTGAAGTCTCACCATACCTCACCTCACCCTCAGGGACTCAGGGCCATGCCCATCCCTACCTTGAACTTCTTCTCCAGATCAGCCTCCAACTTGGGGCCCAGAAGGTGGAGNNNN
pathogenic
68,444
Mutation found at chromosome 3 position 49122322, gene LAMB2 (laminin subunit beta 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome']
GGATACCCTTCTACAGGTCAGATGTGGTACTGGTGGGCTGGATCTTTAATGACACCTGCCACCGGCGCCTCCTTCTTGCACCCAGGCCCCAGCCGAAGGTCGCGTCCCTCCCCCATGCCCCAGGGACGTCGAGGCGGGTAAGGGGCTGTTTAGAGACCCGAGCCGGCCTGAAATGGCAGCGCGGGGTTACTGACCACAGATCAGCGCCCCGGTCGAGCTGCGACCCAGCTTCAGCCTCTGAACCCCGAGCCCGCCACCACCTCTCCCACGAAGTTGCCCTCGCTGGCCGCCAGTCCTCTCCCAGGTGGGAGGCTGGCCACAGGCATAGCGTAACGGCCCTGCCGGCATCAGTGGGCTGGCACGCTGCGGGGCACTAGGGGTAGGGACTGGCACGGCCCGTGACCTTGAACAGGCCGCCGCGGCCGCGCGTTGCGGCCTCCCCGCTGCGGCCAAGCCAGCGAGTTGCAGCCTGCTCCACTCACCGAGCGAGACCGCCGCAGCCAGCCCTCTTCGGGCCCTGGCAACCCGCTCTCCGTTCCGGTTCCGGCGCAGGTCGGTTCCGGTTCCGGCGCGCCCCTCCCCCGTCCCGGCGCCGCCGCCACCGCCTTAGCGGCTTGTTTTGTTTCGACTTCTAGCTAAGGCCGAGGGAGGCGGAGCGCCAAGCTGGTGACGCACTTCCGGCGGGAATGGGCTCGGAGCGACCCGCAGCTCCGGGGCGGGCCCGAGCGGAAGGAGGCGGTGCTCGGGTGGCTTAGCGGTGCATGGGTTCTGCTGGGGGCAACCTCGAGGTTCCCCTGGAGACTCCCCCGCCCGCCCCAAATCAGAGTCCAGACAACACAGTGGGGGTTCACACTGGTTTATTGGGGGCCCTGCCGGGCCAAGAGCTCTTCAGTGCATAGGCAGACATGCATGTGGGGCAGTGCTAGGAACTGGGGTAGGCCTTGGGCAGGGGTCACTGGCAGGTGTTGTAGATCTGCACCTGCAAGTTGATGGCTTGAAGCACGCTGCGCATCCTGGCCTCCAACCCGTCCAACTGGGCTGCCTTACTCTCCAGTGCCCGCTCATTTTCCTCATAGGTGCCTTCCAATTCTAGGAAGGGCAGGTGTCAGTTTAGGGGGGGTTTCCCGCAGTCTTGTGTCTCTGGTGCCCCATTTCTTACCCTGTAGCCGCTGCAGCTTGTCCTGAGCGGCTTGCAACAGGTCCCGAGCCTCATCCCGCAGTTGTTCTGCCCTTGCCTGTGCAGCCAGCACACCTTGGGCCTTGCGCTCAGCTAGGGCCTTCACCGTCTGGTACTGATCACCCAGAGGACCGCGTAGCAGCTGCAGATGTAGAGGGTTAGGTTAGCGTGGTAGCTCAGTGGAGGCCCATCTTCCACCCCTACCTTCTCCAGCTGGCTCTGCCTCAACCCACCTGCTCAGCCTCCTGGGCACGACCCTGGGCACTGCCTGCCGTTTCTTCTGCTGTAGAGGCTGCCAGACTATTTCCTGCCCGTTTCAATTTCAGAGCCTCCAGGAGAGCATCCAACTGCCGAGCCCTTTCACCTGCAGAGCTCAGTGCCCGCTCTGCACCTGCCATCCTCTCCTGTACCTGCCATGGGTGAGCCAAAGGTTACACAGATCTACGGTTCATGCCCATAACCTTGTCCCACTGATGTCCTAGGAAGACCTCACCTGGTACAGGGTCTGCTCTGTGTCCCGTGTGTCAGCCACTGCCCCCCGGATGGCACCCTGGGCAATACCCTGTGCCCGCTGGGCCTCCTCCAGTGCTGCCTGTACTGTCTCTGCCTTCTGTTTCTCATCCTCAGCCCAGCTCCTGGGGAGAAGGGGGAATCAGAACCTGGAGGTATCAAAACCAGGTGTCAGGGATAGGGGCCAGGGATGGGGTCAGACCTTGCCCGCCGTGCATCCTGCAGTAGCTGCTCGGCACGACGCACATCTCCTACAGTACGTGCCAGGATCGCATCCACATCTGCCAGGCTCCGGACTCGCTCTGCAATCGCACCCGCCAGGTGCTGGATCTGCTCAGCTGAAGCTGGGATGGAGAGCTCTAGCACCCGTGTGGCCACCATTTCAATGCTATCAGGATCAGCCCCCTCCTCTATAGGGACACAGCAAGAACTTAAGAACATAGATTCTCCAGCATGGGCATGAGGATACAGTTTTGGGGTATGGACTCAGGACATGTACATGGGATAGGGGTTTGTTACCAGGCATAAGGATATAATCACAAGGACAGGGACTATACAAGGGGCTCAGACTCAAGAACATGGACCTGGGACCACATATGGGCAATAACTCAGGAGCCAGTCAAGGGATCATAAACACTAATCCAGTGTAGTCCCTGAGGCTCAAGTATGAACCAAGGGAGATACAGACACCGGGAGTTGCCAAAGGGGACAACCACATGGCCTGGGACACGTGGGAGGCTCACGGTTGAGGAAGTCCTTCACACTCTGGATAAGTTCTTGAAGTTCCTGGTTGGCCTGTTCCACCTGTCCCCTGGAAGCATTAGCCTTGTCCAGGGCTGCCTGGGCCCGCTGCTGTGCCTCGCTTGCCTGCCGACGAGTCTCAGCCACTCTGCTGAGGATGCTACCACCTTCTGCCAGTGCCCGCTGCAGCTCTGCCTGTGTGTGCCGGGCCCGGCCCAGTGCTAGGTCTGCTGTAGCCGCTGCCCCATTGCAGCTGAGGCCCCCACAGCGCGGCTGCCCATCCTCATCTCGACAGCCGGCACCCCCACAAGGGCTTGTAGCACAGGGTGCATCCCCTGGTGCCCCACACACCTGCCAGGCACAGAACAAGTCAGGGCCCTGTGAGAGGAACATCTACACCCACCTGCCCCACCCAACACTTCAACCTCACCAGCTCATTTATGTCTGTCAGGCTCAGGGTGTGGGTATGGGCAGAGAGCTTGCCAAGTGCCCGCTGGTTGGCCATGTGTTTGCTGTTGAAGTCCTCCTTCTGAGCATCCATCAGTGCCTCTGTCCGATGCCGAGCACTTGCCGAGTTGCTCACAGGGCTAGGTACTGCCAGGGCTGAGGTATTGGCACGACGTTCTGCCTCTGCAGACTGGCTATGGGCATGCCGGATGCTGTCATAGGCACCTAAATTGGGCAGAGGCAGACAGTCAGCTGAAGACTGACCCTGGTCCACCTGCCTAGTTGGCTAACAACTCACCCAGGAAGTTTGAATGTTTGAGCAAGTCAAGATGCTGGTCGAGCTGCCGCAGTGTGAGATTAAGTGCAAGCCTATCTCGCTCCAGACCACTTAGTGCATGGTTGGCATTGAAGTTCTCATCTTGCACATCTGTCAGGTCTGCCTCGAGCTGAGTCAGGTGCTCAGTGGCCTCCCCAATTTCACGCCTGCAATGATGGAGAGGGGGGTGTTTAGAGAGGCTTCAGCCCTGGTCCACTGGGCCTCTGCCCCATCCCACCATGTATTCTTAGGCCCTTCCGCACCGCAGCTCCTCTGTGGCCTCCACAAGCTGTGCAGTGGAGGCGGCTGAGGTGTTGCGGGCACCTACGATGCCCTGCACAATGCCCAGCTTCTCCTGCATGTGCCAGAAGCTGCTCTCAAAGGCACCCAGCACACCCGTCTGTTGCAACTCCTGCGCCCGCTGCTCTAGGCGCTGTGTACGGGCTGCCAAGTCCTGCACCACTCGGTCCCAATCCCCGAAGCATGCATGGCAGGGATGGCAGGCAGGAAAGATTCCTGAGAAGCCACGGGCACACTGGTCACAGCGCACACCAGACACCCCTGGGCGGCAGCTGCAGTGACCTGTGAAGCGGTGACACTGAGGTGTATCTATTCCACGAGAGTCACAATCACAGGCTGCAAGAAAGAGCAGAGCACAGAGTTAGGGTCACTGTGGGGCATTCTGGGAAGTCCTCCATCTACCCTGGCCCCGCTGGCTCCCTCACCATGGCACTGCAACCCAGGGTCTCCCCAGTGGAGCTCTTGGCACTCAGAACAAGTCCGCCCTCCAAAGCCGGCACGGCAGTGGCACTGCCCTGTGAACTGGGGTGGGAACAAGGCAGGGTCAGAGCCTCTATAAGAGGCTAAGCCCTGGAGATAAGACAGACACCTGGCCCCATCTAACC
GGATACCCTTCTACAGGTCAGATGTGGTACTGGTGGGCTGGATCTTTAATGACACCTGCCACCGGCGCCTCCTTCTTGCACCCAGGCCCCAGCCGAAGGTCGCGTCCCTCCCCCATGCCCCAGGGACGTCGAGGCGGGTAAGGGGCTGTTTAGAGACCCGAGCCGGCCTGAAATGGCAGCGCGGGGTTACTGACCACAGATCAGCGCCCCGGTCGAGCTGCGACCCAGCTTCAGCCTCTGAACCCCGAGCCCGCCACCACCTCTCCCACGAAGTTGCCCTCGCTGGCCGCCAGTCCTCTCCCAGGTGGGAGGCTGGCCACAGGCATAGCGTAACGGCCCTGCCGGCATCAGTGGGCTGGCACGCTGCGGGGCACTAGGGGTAGGGACTGGCACGGCCCGTGACCTTGAACAGGCCGCCGCGGCCGCGCGTTGCGGCCTCCCCGCTGCGGCCAAGCCAGCGAGTTGCAGCCTGCTCCACTCACCGAGCGAGACCGCCGCAGCCAGCCCTCTTCGGGCCCTGGCAACCCGCTCTCCGTTCCGGTTCCGGCGCAGGTCGGTTCCGGTTCCGGCGCGCCCCTCCCCCGTCCCGGCGCCGCCGCCACCGCCTTAGCGGCTTGTTTTGTTTCGACTTCTAGCTAAGGCCGAGGGAGGCGGAGCGCCAAGCTGGTGACGCACTTCCGGCGGGAATGGGCTCGGAGCGACCCGCAGCTCCGGGGCGGGCCCGAGCGGAAGGAGGCGGTGCTCGGGTGGCTTAGCGGTGCATGGGTTCTGCTGGGGGCAACCTCGAGGTTCCCCTGGAGACTCCCCCGCCCGCCCCAAATCAGAGTCCAGACAACACAGTGGGGGTTCACACTGGTTTATTGGGGGCCCTGCCGGGCCAAGAGCTCTTCAGTGCATAGGCAGACATGCATGTGGGGCAGTGCTAGGAACTGGGGTAGGCCTTGGGCAGGGGTCACTGGCAGGTGTTGTAGATCTGCACCTGCAAGTTGATGGCTTGAAGCACGCTGCGCATCCTGGCCTCCAACCCGTCCAACTGGGCTGCCTTACTCTCCAGTGCCCGCTCATTTTCCTCATAGGTGCCTTCCAATTCTAGGAAGGGCAGGTGTCAGTTTAGGGGGGGTTTCCCGCAGTCTTGTGTCTCTGGTGCCCCATTTCTTACCCTGTAGCCGCTGCAGCTTGTCCTGAGCGGCTTGCAACAGGTCCCGAGCCTCATCCCGCAGTTGTTCTGCCCTTGCCTGTGCAGCCAGCACACCTTGGGCCTTGCGCTCAGCTAGGGCCTTCACCGTCTGGTACTGATCACCCAGAGGACCGCGTAGCAGCTGCAGATGTAGAGGGTTAGGTTAGCGTGGTAGCTCAGTGGAGGCCCATCTTCCACCCCTACCTTCTCCAGCTGGCTCTGCCTCAACCCACCTGCTCAGCCTCCTGGGCACGACCCTGGGCACTGCCTGCCGTTTCTTCTGCTGTAGAGGCTGCCAGACTATTTCCTGCCCGTTTCAATTTCAGAGCCTCCAGGAGAGCATCCAACTGCCGAGCCCTTTCACCTGCAGAGCTCAGTGCCCGCTCTGCACCTGCCATCCTCTCCTGTACCTGCCATGGGTGAGCCAAAGGTTACACAGATCTACGGTTCATGCCCATAACCTTGTCCCACTGATGTCCTAGGAAGACCTCACCTGGTACAGGGTCTGCTCTGTGTCCCGTGTGTCAGCCACTGCCCCCCGGATGGCACCCTGGGCAATACCCTGTGCCCGCTGGGCCTCCTCCAGTGCTGCCTGTACTGTCTCTGCCTTCTGTTTCTCATCCTCAGCCCAGCTCCTGGGGAGAAGGGGGAATCAGAACCTGGAGGTATCAAAACCAGGTGTCAGGGATAGGGGCCAGGGATGGGGTCAGACCTTGCCCGCCGTGCATCCTGCAGTAGCTGCTCGGCACGACGCACATCTCCTACAGTACGTGCCAGGATCGCATCCACATCTGCCAGGCTCCGGACTCGCTCTGCAATCGCACCCGCCAGGTGCTGGATCTGCTCAGCTGAAGCTGGGATGGAGAGCTCTAGCCACCATTTCAATGCTATCAGGATCAGCCCCCTCCTCTATAGGGACACAGCAAGAACTTAAGAACATAGATTCTCCAGCATGGGCATGAGGATACAGTTTTGGGGTATGGACTCAGGACATGTACATGGGATAGGGGTTTGTTACCAGGCATAAGGATATAATCACAAGGACAGGGACTATACAAGGGGCTCAGACTCAAGAACATGGACCTGGGACCACATATGGGCAATAACTCAGGAGCCAGTCAAGGGATCATAAACACTAATCCAGTGTAGTCCCTGAGGCTCAAGTATGAACCAAGGGAGATACAGACACCGGGAGTTGCCAAAGGGGACAACCACATGGCCTGGGACACGTGGGAGGCTCACGGTTGAGGAAGTCCTTCACACTCTGGATAAGTTCTTGAAGTTCCTGGTTGGCCTGTTCCACCTGTCCCCTGGAAGCATTAGCCTTGTCCAGGGCTGCCTGGGCCCGCTGCTGTGCCTCGCTTGCCTGCCGACGAGTCTCAGCCACTCTGCTGAGGATGCTACCACCTTCTGCCAGTGCCCGCTGCAGCTCTGCCTGTGTGTGCCGGGCCCGGCCCAGTGCTAGGTCTGCTGTAGCCGCTGCCCCATTGCAGCTGAGGCCCCCACAGCGCGGCTGCCCATCCTCATCTCGACAGCCGGCACCCCCACAAGGGCTTGTAGCACAGGGTGCATCCCCTGGTGCCCCACACACCTGCCAGGCACAGAACAAGTCAGGGCCCTGTGAGAGGAACATCTACACCCACCTGCCCCACCCAACACTTCAACCTCACCAGCTCATTTATGTCTGTCAGGCTCAGGGTGTGGGTATGGGCAGAGAGCTTGCCAAGTGCCCGCTGGTTGGCCATGTGTTTGCTGTTGAAGTCCTCCTTCTGAGCATCCATCAGTGCCTCTGTCCGATGCCGAGCACTTGCCGAGTTGCTCACAGGGCTAGGTACTGCCAGGGCTGAGGTATTGGCACGACGTTCTGCCTCTGCAGACTGGCTATGGGCATGCCGGATGCTGTCATAGGCACCTAAATTGGGCAGAGGCAGACAGTCAGCTGAAGACTGACCCTGGTCCACCTGCCTAGTTGGCTAACAACTCACCCAGGAAGTTTGAATGTTTGAGCAAGTCAAGATGCTGGTCGAGCTGCCGCAGTGTGAGATTAAGTGCAAGCCTATCTCGCTCCAGACCACTTAGTGCATGGTTGGCATTGAAGTTCTCATCTTGCACATCTGTCAGGTCTGCCTCGAGCTGAGTCAGGTGCTCAGTGGCCTCCCCAATTTCACGCCTGCAATGATGGAGAGGGGGGTGTTTAGAGAGGCTTCAGCCCTGGTCCACTGGGCCTCTGCCCCATCCCACCATGTATTCTTAGGCCCTTCCGCACCGCAGCTCCTCTGTGGCCTCCACAAGCTGTGCAGTGGAGGCGGCTGAGGTGTTGCGGGCACCTACGATGCCCTGCACAATGCCCAGCTTCTCCTGCATGTGCCAGAAGCTGCTCTCAAAGGCACCCAGCACACCCGTCTGTTGCAACTCCTGCGCCCGCTGCTCTAGGCGCTGTGTACGGGCTGCCAAGTCCTGCACCACTCGGTCCCAATCCCCGAAGCATGCATGGCAGGGATGGCAGGCAGGAAAGATTCCTGAGAAGCCACGGGCACACTGGTCACAGCGCACACCAGACACCCCTGGGCGGCAGCTGCAGTGACCTGTGAAGCGGTGACACTGAGGTGTATCTATTCCACGAGAGTCACAATCACAGGCTGCAAGAAAGAGCAGAGCACAGAGTTAGGGTCACTGTGGGGCATTCTGGGAAGTCCTCCATCTACCCTGGCCCCGCTGGCTCCCTCACCATGGCACTGCAACCCAGGGTCTCCCCAGTGGAGCTCTTGGCACTCAGAACAAGTCCGCCCTCCAAAGCCGGCACGGCAGTGGCACTGCCCTGTGAACTGGGGTGGGAACAAGGCAGGGTCAGAGCCTCTATAAGAGGCTAAGCCCTGGAGATAAGACAGACACCTGGCCCCATCTAACCNNNNNNNNNNN
pathogenic
68,506
For chromosome 3, position 49123646, gene LAMB2 (laminin subunit beta 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
benign
GATGTAGAGGGTTAGGTTAGCGTGGTAGCTCAGTGGAGGCCCATCTTCCACCCCTACCTTCTCCAGCTGGCTCTGCCTCAACCCACCTGCTCAGCCTCCTGGGCACGACCCTGGGCACTGCCTGCCGTTTCTTCTGCTGTAGAGGCTGCCAGACTATTTCCTGCCCGTTTCAATTTCAGAGCCTCCAGGAGAGCATCCAACTGCCGAGCCCTTTCACCTGCAGAGCTCAGTGCCCGCTCTGCACCTGCCATCCTCTCCTGTACCTGCCATGGGTGAGCCAAAGGTTACACAGATCTACGGTTCATGCCCATAACCTTGTCCCACTGATGTCCTAGGAAGACCTCACCTGGTACAGGGTCTGCTCTGTGTCCCGTGTGTCAGCCACTGCCCCCCGGATGGCACCCTGGGCAATACCCTGTGCCCGCTGGGCCTCCTCCAGTGCTGCCTGTACTGTCTCTGCCTTCTGTTTCTCATCCTCAGCCCAGCTCCTGGGGAGAAGGGGGAATCAGAACCTGGAGGTATCAAAACCAGGTGTCAGGGATAGGGGCCAGGGATGGGGTCAGACCTTGCCCGCCGTGCATCCTGCAGTAGCTGCTCGGCACGACGCACATCTCCTACAGTACGTGCCAGGATCGCATCCACATCTGCCAGGCTCCGGACTCGCTCTGCAATCGCACCCGCCAGGTGCTGGATCTGCTCAGCTGAAGCTGGGATGGAGAGCTCTAGCACCCGTGTGGCCACCATTTCAATGCTATCAGGATCAGCCCCCTCCTCTATAGGGACACAGCAAGAACTTAAGAACATAGATTCTCCAGCATGGGCATGAGGATACAGTTTTGGGGTATGGACTCAGGACATGTACATGGGATAGGGGTTTGTTACCAGGCATAAGGATATAATCACAAGGACAGGGACTATACAAGGGGCTCAGACTCAAGAACATGGACCTGGGACCACATATGGGCAATAACTCAGGAGCCAGTCAAGGGATCATAAACACTAATCCAGTGTAGTCCCTGAGGCTCAAGTATGAACCAAGGGAGATACAGACACCGGGAGTTGCCAAAGGGGACAACCACATGGCCTGGGACACGTGGGAGGCTCACGGTTGAGGAAGTCCTTCACACTCTGGATAAGTTCTTGAAGTTCCTGGTTGGCCTGTTCCACCTGTCCCCTGGAAGCATTAGCCTTGTCCAGGGCTGCCTGGGCCCGCTGCTGTGCCTCGCTTGCCTGCCGACGAGTCTCAGCCACTCTGCTGAGGATGCTACCACCTTCTGCCAGTGCCCGCTGCAGCTCTGCCTGTGTGTGCCGGGCCCGGCCCAGTGCTAGGTCTGCTGTAGCCGCTGCCCCATTGCAGCTGAGGCCCCCACAGCGCGGCTGCCCATCCTCATCTCGACAGCCGGCACCCCCACAAGGGCTTGTAGCACAGGGTGCATCCCCTGGTGCCCCACACACCTGCCAGGCACAGAACAAGTCAGGGCCCTGTGAGAGGAACATCTACACCCACCTGCCCCACCCAACACTTCAACCTCACCAGCTCATTTATGTCTGTCAGGCTCAGGGTGTGGGTATGGGCAGAGAGCTTGCCAAGTGCCCGCTGGTTGGCCATGTGTTTGCTGTTGAAGTCCTCCTTCTGAGCATCCATCAGTGCCTCTGTCCGATGCCGAGCACTTGCCGAGTTGCTCACAGGGCTAGGTACTGCCAGGGCTGAGGTATTGGCACGACGTTCTGCCTCTGCAGACTGGCTATGGGCATGCCGGATGCTGTCATAGGCACCTAAATTGGGCAGAGGCAGACAGTCAGCTGAAGACTGACCCTGGTCCACCTGCCTAGTTGGCTAACAACTCACCCAGGAAGTTTGAATGTTTGAGCAAGTCAAGATGCTGGTCGAGCTGCCGCAGTGTGAGATTAAGTGCAAGCCTATCTCGCTCCAGACCACTTAGTGCATGGTTGGCATTGAAGTTCTCATCTTGCACATCTGTCAGGTCTGCCTCGAGCTGAGTCAGGTGCTCAGTGGCCTCCCCAATTTCACGCCTGCAATGATGGAGAGGGGGGTGTTTAGAGAGGCTTCAGCCCTGGTCCACTGGGCCTCTGCCCCATCCCACCATGTATTCTTAGGCCCTTCCGCACCGCAGCTCCTCTGTGGCCTCCACAAGCTGTGCAGTGGAGGCGGCTGAGGTGTTGCGGGCACCTACGATGCCCTGCACAATGCCCAGCTTCTCCTGCATGTGCCAGAAGCTGCTCTCAAAGGCACCCAGCACACCCGTCTGTTGCAACTCCTGCGCCCGCTGCTCTAGGCGCTGTGTACGGGCTGCCAAGTCCTGCACCACTCGGTCCCAATCCCCGAAGCATGCATGGCAGGGATGGCAGGCAGGAAAGATTCCTGAGAAGCCACGGGCACACTGGTCACAGCGCACACCAGACACCCCTGGGCGGCAGCTGCAGTGACCTGTGAAGCGGTGACACTGAGGTGTATCTATTCCACGAGAGTCACAATCACAGGCTGCAAGAAAGAGCAGAGCACAGAGTTAGGGTCACTGTGGGGCATTCTGGGAAGTCCTCCATCTACCCTGGCCCCGCTGGCTCCCTCACCATGGCACTGCAACCCAGGGTCTCCCCAGTGGAGCTCTTGGCACTCAGAACAAGTCCGCCCTCCAAAGCCGGCACGGCAGTGGCACTGCCCTGTGAACTGGGGTGGGAACAAGGCAGGGTCAGAGCCTCTATAAGAGGCTAAGCCCTGGAGATAAGACAGACACCTGGCCCCATCTAACCAGGGATCTGCAGGAGGGTCCCATACCTCGTTGCAGGTGGGGCCTCTGGCCCGGCTTGGGTGGCAGGCACAAGGCTGGCAACCATGGCCACTGGTGAGGTTCCAGAAGTTGGGGGCACAGCGGTCACAGCTAGGGCCCTGGACATTGGGGAGGCATGGGCACTGCCCACTGCTTGGATCACAGTGGCACTGGTCAGGAGATGGGCACTGCTGCGGATTTGTGCCCAGCAGGTTGCATGTGCAGCCTGTGCCAACCAAGATGAGCACAGTAGTCAAGAGGAGGCCAAGAAGCAGAACCCCAATTCAGCCATGCCCTCCCACACTCATACTCACGGTGACAGCTCTGTCGGGCAGCCTGCCCATGGAAGCCAGGCTTGCAGTGGGCACAGTGTGGACCCTCTGTGTGGTGTAAACAGCGCAGGCATTGCCCCGTGTGGGGGTCACAGGCATCAGGATCCATTGGGTCAATGTTCCCACTGCACTCACACAGTTGGCACCGGCCACCTGGCCTTGATGGGTCCCCAAAGTGCCCAGGGGCACAAGCTTCACATCGCAGCCCTGCCCACGGTTAAGAGGAAGCTGTGAGTGCTCAGCCCAGCCAACTCACCCTGATCCCACGCCTGCCCCCATCCACTCACCCGTATAGCCTGCCCGGCAGTGGCACACAATCTGCTGGGAATATTCATCCTGGTGGCAAGAAGTAGCAAAGTGCCGTTGGCTCCCAGGGCCTTCAGGACAGGGACAGGGCCGGCACTGGCCCCCATATGGCAGCCGTGGGTCCCCGTGGAAACCAGCAATGCACCTGCAGGGAGGAGGAAGAAGAAATGTGTCATCCCTGGGAAGCCTGCCCACCAACCAACCCACTCATAGCTGCTCCAGTCTCACCTTTCACAGTGCTCACCCCCTGTGTGATCACGGCAGCCCAGGCAAGCGCCTGTGTGGGTGTTGCACTCATCTGCATGCCCATTGCAGACACATGGCCGGCAGCTAGGGAATCCCCACTGGCCACGCTGGCAGCGGTCACAGCGAAGCCCAAAGGCACCAGTTCGACAGAGACATTGCCCACTGGTCTTTTCACAGAGACTGCTGAGTGCCCCCTCGTGGCTGCACTGGCAGGCTAGGAGCAAGGCAGAGCTGAGCCAGAGCCAGGGGAGGGGGTCTGAGGGGAGTGTGGGTGGGGGAGGGTCTCAGGGGAGTGTGAGTAGTGGGAGTCTAGGTGGGAAGGTCAGGAAATGGAAGAGAACTACAACTGACCCAGGTTGAGAGTAGAGGGTCCAAGACTTAGTTTGAGGAAACCAGCAGCAGGTCCAGAAGGAGGAGAGAGAA
GATGTAGAGGGTTAGGTTAGCGTGGTAGCTCAGTGGAGGCCCATCTTCCACCCCTACCTTCTCCAGCTGGCTCTGCCTCAACCCACCTGCTCAGCCTCCTGGGCACGACCCTGGGCACTGCCTGCCGTTTCTTCTGCTGTAGAGGCTGCCAGACTATTTCCTGCCCGTTTCAATTTCAGAGCCTCCAGGAGAGCATCCAACTGCCGAGCCCTTTCACCTGCAGAGCTCAGTGCCCGCTCTGCACCTGCCATCCTCTCCTGTACCTGCCATGGGTGAGCCAAAGGTTACACAGATCTACGGTTCATGCCCATAACCTTGTCCCACTGATGTCCTAGGAAGACCTCACCTGGTACAGGGTCTGCTCTGTGTCCCGTGTGTCAGCCACTGCCCCCCGGATGGCACCCTGGGCAATACCCTGTGCCCGCTGGGCCTCCTCCAGTGCTGCCTGTACTGTCTCTGCCTTCTGTTTCTCATCCTCAGCCCAGCTCCTGGGGAGAAGGGGGAATCAGAACCTGGAGGTATCAAAACCAGGTGTCAGGGATAGGGGCCAGGGATGGGGTCAGACCTTGCCCGCCGTGCATCCTGCAGTAGCTGCTCGGCACGACGCACATCTCCTACAGTACGTGCCAGGATCGCATCCACATCTGCCAGGCTCCGGACTCGCTCTGCAATCGCACCCGCCAGGTGCTGGATCTGCTCAGCTGAAGCTGGGATGGAGAGCTCTAGCACCCGTGTGGCCACCATTTCAATGCTATCAGGATCAGCCCCCTCCTCTATAGGGACACAGCAAGAACTTAAGAACATAGATTCTCCAGCATGGGCATGAGGATACAGTTTTGGGGTATGGACTCAGGACATGTACATGGGATAGGGGTTTGTTACCAGGCATAAGGATATAATCACAAGGACAGGGACTATACAAGGGGCTCAGACTCAAGAACATGGACCTGGGACCACATATGGGCAATAACTCAGGAGCCAGTCAAGGGATCATAAACACTAATCCAGTGTAGTCCCTGAGGCTCAAGTATGAACCAAGGGAGATACAGACACCGGGAGTTGCCAAAGGGGACAACCACATGGCCTGGGACACGTGGGAGGCTCACGGTTGAGGAAGTCCTTCACACTCTGGATAAGTTCTTGAAGTTCCTGGTTGGCCTGTTCCACCTGTCCCCTGGAAGCATTAGCCTTGTCCAGGGCTGCCTGGGCCCGCTGCTGTGCCTCGCTTGCCTGCCGACGAGTCTCAGCCACTCTGCTGAGGATGCTACCACCTTCTGCCAGTGCCCGCTGCAGCTCTGCCTGTGTGTGCCGGGCCCGGCCCAGTGCTAGGTCTGCTGTAGCCGCTGCCCCATTGCAGCTGAGGCCCCCACAGCGCGGCTGCCCATCCTCATCTCGACAGCCGGCACCCCCACAAGGGCTTGTAGCACAGGGTGCATCCCCTGGTGCCCCACACACCTGCCAGGCACAGAACAAGTCAGGGCCCTGTGAGAGGAACATCTACACCCACCTGCCCCACCCAACACTTCAACCTCACCAGCTCATTTATGTCTGTCAGGCTCAGGGTGTGGGTATGGGCAGAGAGCTTGCCAAGTGCCCGCTGGTTGGCCATGTGTTTGCTGTTGAAGTCCTCCTTCTGAGCATCCATCAGTGCCTCTGTCCGATGCCGAGCACTTGCCGAGTTGCTCACAGGGCTAGGTACTGCCAGGGCTGAGGTATTGGCACGACGTTCTGCCTCTGCAGACTGGCTATGGGCATGCCGGATGCTGTCATAGGCACCTAAATTGGGCAGAGGCAGACAGTCAGCTGAAGACTGACCCTGGTCCACCTGCCTAGTTGGCTAACAACTCACCCAGGAAGTTTGAATGTTTGAGCAAGTCAAGATGCTGGTCGAGCTGCCGCAGTGTGAGATTAAGTGCAAGCCTATCTCGCTCCAGACCACTTAGTGCATGGTTGGCATTGAAGTTCTCATCTTGCACATCTGTCAGGTCTGCCTCGAGCTGAGTCAGGTGCTCAGTGGCCTCCCCAATTTCACGCCTGCAATGATGGAGAGGGGGTGTTTAGAGAGGCTTCAGCCCTGGTCCACTGGGCCTCTGCCCCATCCCACCATGTATTCTTAGGCCCTTCCGCACCGCAGCTCCTCTGTGGCCTCCACAAGCTGTGCAGTGGAGGCGGCTGAGGTGTTGCGGGCACCTACGATGCCCTGCACAATGCCCAGCTTCTCCTGCATGTGCCAGAAGCTGCTCTCAAAGGCACCCAGCACACCCGTCTGTTGCAACTCCTGCGCCCGCTGCTCTAGGCGCTGTGTACGGGCTGCCAAGTCCTGCACCACTCGGTCCCAATCCCCGAAGCATGCATGGCAGGGATGGCAGGCAGGAAAGATTCCTGAGAAGCCACGGGCACACTGGTCACAGCGCACACCAGACACCCCTGGGCGGCAGCTGCAGTGACCTGTGAAGCGGTGACACTGAGGTGTATCTATTCCACGAGAGTCACAATCACAGGCTGCAAGAAAGAGCAGAGCACAGAGTTAGGGTCACTGTGGGGCATTCTGGGAAGTCCTCCATCTACCCTGGCCCCGCTGGCTCCCTCACCATGGCACTGCAACCCAGGGTCTCCCCAGTGGAGCTCTTGGCACTCAGAACAAGTCCGCCCTCCAAAGCCGGCACGGCAGTGGCACTGCCCTGTGAACTGGGGTGGGAACAAGGCAGGGTCAGAGCCTCTATAAGAGGCTAAGCCCTGGAGATAAGACAGACACCTGGCCCCATCTAACCAGGGATCTGCAGGAGGGTCCCATACCTCGTTGCAGGTGGGGCCTCTGGCCCGGCTTGGGTGGCAGGCACAAGGCTGGCAACCATGGCCACTGGTGAGGTTCCAGAAGTTGGGGGCACAGCGGTCACAGCTAGGGCCCTGGACATTGGGGAGGCATGGGCACTGCCCACTGCTTGGATCACAGTGGCACTGGTCAGGAGATGGGCACTGCTGCGGATTTGTGCCCAGCAGGTTGCATGTGCAGCCTGTGCCAACCAAGATGAGCACAGTAGTCAAGAGGAGGCCAAGAAGCAGAACCCCAATTCAGCCATGCCCTCCCACACTCATACTCACGGTGACAGCTCTGTCGGGCAGCCTGCCCATGGAAGCCAGGCTTGCAGTGGGCACAGTGTGGACCCTCTGTGTGGTGTAAACAGCGCAGGCATTGCCCCGTGTGGGGGTCACAGGCATCAGGATCCATTGGGTCAATGTTCCCACTGCACTCACACAGTTGGCACCGGCCACCTGGCCTTGATGGGTCCCCAAAGTGCCCAGGGGCACAAGCTTCACATCGCAGCCCTGCCCACGGTTAAGAGGAAGCTGTGAGTGCTCAGCCCAGCCAACTCACCCTGATCCCACGCCTGCCCCCATCCACTCACCCGTATAGCCTGCCCGGCAGTGGCACACAATCTGCTGGGAATATTCATCCTGGTGGCAAGAAGTAGCAAAGTGCCGTTGGCTCCCAGGGCCTTCAGGACAGGGACAGGGCCGGCACTGGCCCCCATATGGCAGCCGTGGGTCCCCGTGGAAACCAGCAATGCACCTGCAGGGAGGAGGAAGAAGAAATGTGTCATCCCTGGGAAGCCTGCCCACCAACCAACCCACTCATAGCTGCTCCAGTCTCACCTTTCACAGTGCTCACCCCCTGTGTGATCACGGCAGCCCAGGCAAGCGCCTGTGTGGGTGTTGCACTCATCTGCATGCCCATTGCAGACACATGGCCGGCAGCTAGGGAATCCCCACTGGCCACGCTGGCAGCGGTCACAGCGAAGCCCAAAGGCACCAGTTCGACAGAGACATTGCCCACTGGTCTTTTCACAGAGACTGCTGAGTGCCCCCTCGTGGCTGCACTGGCAGGCTAGGAGCAAGGCAGAGCTGAGCCAGAGCCAGGGGAGGGGGTCTGAGGGGAGTGTGGGTGGGGGAGGGTCTCAGGGGAGTGTGAGTAGTGGGAGTCTAGGTGGGAAGGTCAGGAAATGGAAGAGAACTACAACTGACCCAGGTTGAGAGTAGAGGGTCCAAGACTTAGTTTGAGGAAACCAGCAGCAGGTCCAGAAGGAGGAGAGAGAAN
benign
68,522
Assess the variant on chromosome 3, position 49124514, impacting LAMB2 (laminin subunit beta 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome']
TAGGGGTTTGTTACCAGGCATAAGGATATAATCACAAGGACAGGGACTATACAAGGGGCTCAGACTCAAGAACATGGACCTGGGACCACATATGGGCAATAACTCAGGAGCCAGTCAAGGGATCATAAACACTAATCCAGTGTAGTCCCTGAGGCTCAAGTATGAACCAAGGGAGATACAGACACCGGGAGTTGCCAAAGGGGACAACCACATGGCCTGGGACACGTGGGAGGCTCACGGTTGAGGAAGTCCTTCACACTCTGGATAAGTTCTTGAAGTTCCTGGTTGGCCTGTTCCACCTGTCCCCTGGAAGCATTAGCCTTGTCCAGGGCTGCCTGGGCCCGCTGCTGTGCCTCGCTTGCCTGCCGACGAGTCTCAGCCACTCTGCTGAGGATGCTACCACCTTCTGCCAGTGCCCGCTGCAGCTCTGCCTGTGTGTGCCGGGCCCGGCCCAGTGCTAGGTCTGCTGTAGCCGCTGCCCCATTGCAGCTGAGGCCCCCACAGCGCGGCTGCCCATCCTCATCTCGACAGCCGGCACCCCCACAAGGGCTTGTAGCACAGGGTGCATCCCCTGGTGCCCCACACACCTGCCAGGCACAGAACAAGTCAGGGCCCTGTGAGAGGAACATCTACACCCACCTGCCCCACCCAACACTTCAACCTCACCAGCTCATTTATGTCTGTCAGGCTCAGGGTGTGGGTATGGGCAGAGAGCTTGCCAAGTGCCCGCTGGTTGGCCATGTGTTTGCTGTTGAAGTCCTCCTTCTGAGCATCCATCAGTGCCTCTGTCCGATGCCGAGCACTTGCCGAGTTGCTCACAGGGCTAGGTACTGCCAGGGCTGAGGTATTGGCACGACGTTCTGCCTCTGCAGACTGGCTATGGGCATGCCGGATGCTGTCATAGGCACCTAAATTGGGCAGAGGCAGACAGTCAGCTGAAGACTGACCCTGGTCCACCTGCCTAGTTGGCTAACAACTCACCCAGGAAGTTTGAATGTTTGAGCAAGTCAAGATGCTGGTCGAGCTGCCGCAGTGTGAGATTAAGTGCAAGCCTATCTCGCTCCAGACCACTTAGTGCATGGTTGGCATTGAAGTTCTCATCTTGCACATCTGTCAGGTCTGCCTCGAGCTGAGTCAGGTGCTCAGTGGCCTCCCCAATTTCACGCCTGCAATGATGGAGAGGGGGGTGTTTAGAGAGGCTTCAGCCCTGGTCCACTGGGCCTCTGCCCCATCCCACCATGTATTCTTAGGCCCTTCCGCACCGCAGCTCCTCTGTGGCCTCCACAAGCTGTGCAGTGGAGGCGGCTGAGGTGTTGCGGGCACCTACGATGCCCTGCACAATGCCCAGCTTCTCCTGCATGTGCCAGAAGCTGCTCTCAAAGGCACCCAGCACACCCGTCTGTTGCAACTCCTGCGCCCGCTGCTCTAGGCGCTGTGTACGGGCTGCCAAGTCCTGCACCACTCGGTCCCAATCCCCGAAGCATGCATGGCAGGGATGGCAGGCAGGAAAGATTCCTGAGAAGCCACGGGCACACTGGTCACAGCGCACACCAGACACCCCTGGGCGGCAGCTGCAGTGACCTGTGAAGCGGTGACACTGAGGTGTATCTATTCCACGAGAGTCACAATCACAGGCTGCAAGAAAGAGCAGAGCACAGAGTTAGGGTCACTGTGGGGCATTCTGGGAAGTCCTCCATCTACCCTGGCCCCGCTGGCTCCCTCACCATGGCACTGCAACCCAGGGTCTCCCCAGTGGAGCTCTTGGCACTCAGAACAAGTCCGCCCTCCAAAGCCGGCACGGCAGTGGCACTGCCCTGTGAACTGGGGTGGGAACAAGGCAGGGTCAGAGCCTCTATAAGAGGCTAAGCCCTGGAGATAAGACAGACACCTGGCCCCATCTAACCAGGGATCTGCAGGAGGGTCCCATACCTCGTTGCAGGTGGGGCCTCTGGCCCGGCTTGGGTGGCAGGCACAAGGCTGGCAACCATGGCCACTGGTGAGGTTCCAGAAGTTGGGGGCACAGCGGTCACAGCTAGGGCCCTGGACATTGGGGAGGCATGGGCACTGCCCACTGCTTGGATCACAGTGGCACTGGTCAGGAGATGGGCACTGCTGCGGATTTGTGCCCAGCAGGTTGCATGTGCAGCCTGTGCCAACCAAGATGAGCACAGTAGTCAAGAGGAGGCCAAGAAGCAGAACCCCAATTCAGCCATGCCCTCCCACACTCATACTCACGGTGACAGCTCTGTCGGGCAGCCTGCCCATGGAAGCCAGGCTTGCAGTGGGCACAGTGTGGACCCTCTGTGTGGTGTAAACAGCGCAGGCATTGCCCCGTGTGGGGGTCACAGGCATCAGGATCCATTGGGTCAATGTTCCCACTGCACTCACACAGTTGGCACCGGCCACCTGGCCTTGATGGGTCCCCAAAGTGCCCAGGGGCACAAGCTTCACATCGCAGCCCTGCCCACGGTTAAGAGGAAGCTGTGAGTGCTCAGCCCAGCCAACTCACCCTGATCCCACGCCTGCCCCCATCCACTCACCCGTATAGCCTGCCCGGCAGTGGCACACAATCTGCTGGGAATATTCATCCTGGTGGCAAGAAGTAGCAAAGTGCCGTTGGCTCCCAGGGCCTTCAGGACAGGGACAGGGCCGGCACTGGCCCCCATATGGCAGCCGTGGGTCCCCGTGGAAACCAGCAATGCACCTGCAGGGAGGAGGAAGAAGAAATGTGTCATCCCTGGGAAGCCTGCCCACCAACCAACCCACTCATAGCTGCTCCAGTCTCACCTTTCACAGTGCTCACCCCCTGTGTGATCACGGCAGCCCAGGCAAGCGCCTGTGTGGGTGTTGCACTCATCTGCATGCCCATTGCAGACACATGGCCGGCAGCTAGGGAATCCCCACTGGCCACGCTGGCAGCGGTCACAGCGAAGCCCAAAGGCACCAGTTCGACAGAGACATTGCCCACTGGTCTTTTCACAGAGACTGCTGAGTGCCCCCTCGTGGCTGCACTGGCAGGCTAGGAGCAAGGCAGAGCTGAGCCAGAGCCAGGGGAGGGGGTCTGAGGGGAGTGTGGGTGGGGGAGGGTCTCAGGGGAGTGTGAGTAGTGGGAGTCTAGGTGGGAAGGTCAGGAAATGGAAGAGAACTACAACTGACCCAGGTTGAGAGTAGAGGGTCCAAGACTTAGTTTGAGGAAACCAGCAGCAGGTCCAGAAGGAGGAGAGAGAACAGTAATGGGAAGGAGAGAGAAGCATAGGAGGGAACAAGGGGCAGAAGAGTACCTTGACAGCCTGTGGGGCCAAAGCCATAGTAGCCAGGGGCACAGAGGTCACAGCGGCGCCCAACCACTCCAGGCTTGCACAGGCACTGACCACCATGAGGGTTGCACTCAGAACTCAGTGAACCTTGAGGGTTGCACTGACATGCTGTGGGGAGGAGGGTTGGGCCAAGTCAGGCTGGGTCCCCACCTCTGCCCCATCAACCCACATCACAGACACTCACGCAGGGCACCATTGTAGATGAGGGTGGACAGGCTGATGAGGAGGGGTGCGCAGGCCTCAGAGGGAGAAGTCTTGCTGGGCACCAGACCCTCCTCATGGCATTGGTAGCGTTCAAAGGTGGCCTGGCGCTCCAGGGCAGCAGCATCACCCCCACTAAACATCTCTAGCACCAGGACACGGGGCAGCAGCACCAGCTGAAGGAGTGAGCAAGGAAGATCGCAGTTCAGACCTGGGACCACGTAGGCATTGCCAGAGCACTTGCCTTAGCACTGCCACAAGCCTGCCCACCCTGGCACCACCATGGGCCTGCCTCTTCTGCCACAGACCCCTGCTATCCCTCAAGTCCCACACCACGGGCCCTGCCATCTTGGTTGGTGTGGGCAAGAGGAGATTATTCACCGAGTCAATGAGCAGGCCAGGTCCAGAGTAGGGAGTCTCAGGCTGGGCACTTCCCCCTGTCCGTACCAGCTTCAGATGCAGCTTGTAGGAGATACCAGGCTCAAGGCAGACAGGATTAGGAAATATCAAGTACCTGGGGGCGAGTGGGGACAGGTGCAGTGGGTCATCTAGGGGCCCTGTACAAATCATCTGGGCCT
TAGGGGTTTGTTACCAGGCATAAGGATATAATCACAAGGACAGGGACTATACAAGGGGCTCAGACTCAAGAACATGGACCTGGGACCACATATGGGCAATAACTCAGGAGCCAGTCAAGGGATCATAAACACTAATCCAGTGTAGTCCCTGAGGCTCAAGTATGAACCAAGGGAGATACAGACACCGGGAGTTGCCAAAGGGGACAACCACATGGCCTGGGACACGTGGGAGGCTCACGGTTGAGGAAGTCCTTCACACTCTGGATAAGTTCTTGAAGTTCCTGGTTGGCCTGTTCCACCTGTCCCCTGGAAGCATTAGCCTTGTCCAGGGCTGCCTGGGCCCGCTGCTGTGCCTCGCTTGCCTGCCGACGAGTCTCAGCCACTCTGCTGAGGATGCTACCACCTTCTGCCAGTGCCCGCTGCAGCTCTGCCTGTGTGTGCCGGGCCCGGCCCAGTGCTAGGTCTGCTGTAGCCGCTGCCCCATTGCAGCTGAGGCCCCCACAGCGCGGCTGCCCATCCTCATCTCGACAGCCGGCACCCCCACAAGGGCTTGTAGCACAGGGTGCATCCCCTGGTGCCCCACACACCTGCCAGGCACAGAACAAGTCAGGGCCCTGTGAGAGGAACATCTACACCCACCTGCCCCACCCAACACTTCAACCTCACCAGCTCATTTATGTCTGTCAGGCTCAGGGTGTGGGTATGGGCAGAGAGCTTGCCAAGTGCCCGCTGGTTGGCCATGTGTTTGCTGTTGAAGTCCTCCTTCTGAGCATCCATCAGTGCCTCTGTCCGATGCCGAGCACTTGCCGAGTTGCTCACAGGGCTAGGTACTGCCAGGGCTGAGGTATTGGCACGACGTTCTGCCTCTGCAGACTGGCTATGGGCATGCCGGATGCTGTCATAGGCACCTAAATTGGGCAGAGGCAGACAGTCAGCTGAAGACTGACCCTGGTCCACCTGCCTAGTTGGCTAACAACTCACCCAGGAAGTTTGAATGTTTGAGCAAGTCAAGATGCTGGTCGAGCTGCCGCAGTGTGAGATTAAGTGCAAGCCTATCTCGCTCCAGACCACTTAGTGCATGGTTGGCATTGAAGTTCTCATCTTGCACATCTGTCAGGTCTGCCTCGAGCTGAGTCAGGTGCTCAGTGGCCTCCCCAATTTCACGCCTGCAATGATGGAGAGGGGGGTGTTTAGAGAGGCTTCAGCCCTGGTCCACTGGGCCTCTGCCCCATCCCACCATGTATTCTTAGGCCCTTCCGCACCGCAGCTCCTCTGTGGCCTCCACAAGCTGTGCAGTGGAGGCGGCTGAGGTGTTGCGGGCACCTACGATGCCCTGCACAATGCCCAGCTTCTCCTGCATGTGCCAGAAGCTGCTCTCAAAGGCACCCAGCACACCCGTCTGTTGCAACTCCTGCGCCCGCTGCTCTAGGCGCTGTGTACGGGCTGCCAAGTCCTGCACCACTCGGTCCCAATCCCCGAAGCATGCATGGCAGGGATGGCAGGCAGGAAAGATTCCTGAGAAGCCACGGGCACACTGGTCACAGCGCACACCAGACACCCCTGGGCGGCAGCTGCAGTGACCTGTGAAGCGGTGACACTGAGGTGTATCTATTCCACGAGAGTCACAATCACAGGCTGCAAGAAAGAGCAGAGCACAGAGTTAGGGTCACTGTGGGGCATTCTGGGAAGTCCTCCATCTACCCTGGCCCCGCTGGCTCCCTCACCATGGCACTGCAACCCAGGGTCTCCCCAGTGGAGCTCTTGGCACTCAGAACAAGTCCGCCCTCCAAAGCCGGCACGGCAGTGGCACTGCCCTGTGAACTGGGGTGGGAACAAGGCAGGGTCAGAGCCTCTATAAGAGGCTAAGCCCTGGAGATAAGACAGACACCTGGCCCCATCTAACCAGGGATCTGCAGGAGGGTCCCATACCTCGTTGCAGGTGGGGCCTCTGGCCCGGCTTGGGTGGCAGGCACAAGGCTGGCAACCATGGCCACTGGTGAGGTTCCAGAAGTTGGGGGCACAGCGGTCACAGCTAGGGCCCTGGACATTGGGGGAGGCATGGGCACTGCCCACTGCTTGGATCACAGTGGCACTGGTCAGGAGATGGGCACTGCTGCGGATTTGTGCCCAGCAGGTTGCATGTGCAGCCTGTGCCAACCAAGATGAGCACAGTAGTCAAGAGGAGGCCAAGAAGCAGAACCCCAATTCAGCCATGCCCTCCCACACTCATACTCACGGTGACAGCTCTGTCGGGCAGCCTGCCCATGGAAGCCAGGCTTGCAGTGGGCACAGTGTGGACCCTCTGTGTGGTGTAAACAGCGCAGGCATTGCCCCGTGTGGGGGTCACAGGCATCAGGATCCATTGGGTCAATGTTCCCACTGCACTCACACAGTTGGCACCGGCCACCTGGCCTTGATGGGTCCCCAAAGTGCCCAGGGGCACAAGCTTCACATCGCAGCCCTGCCCACGGTTAAGAGGAAGCTGTGAGTGCTCAGCCCAGCCAACTCACCCTGATCCCACGCCTGCCCCCATCCACTCACCCGTATAGCCTGCCCGGCAGTGGCACACAATCTGCTGGGAATATTCATCCTGGTGGCAAGAAGTAGCAAAGTGCCGTTGGCTCCCAGGGCCTTCAGGACAGGGACAGGGCCGGCACTGGCCCCCATATGGCAGCCGTGGGTCCCCGTGGAAACCAGCAATGCACCTGCAGGGAGGAGGAAGAAGAAATGTGTCATCCCTGGGAAGCCTGCCCACCAACCAACCCACTCATAGCTGCTCCAGTCTCACCTTTCACAGTGCTCACCCCCTGTGTGATCACGGCAGCCCAGGCAAGCGCCTGTGTGGGTGTTGCACTCATCTGCATGCCCATTGCAGACACATGGCCGGCAGCTAGGGAATCCCCACTGGCCACGCTGGCAGCGGTCACAGCGAAGCCCAAAGGCACCAGTTCGACAGAGACATTGCCCACTGGTCTTTTCACAGAGACTGCTGAGTGCCCCCTCGTGGCTGCACTGGCAGGCTAGGAGCAAGGCAGAGCTGAGCCAGAGCCAGGGGAGGGGGTCTGAGGGGAGTGTGGGTGGGGGAGGGTCTCAGGGGAGTGTGAGTAGTGGGAGTCTAGGTGGGAAGGTCAGGAAATGGAAGAGAACTACAACTGACCCAGGTTGAGAGTAGAGGGTCCAAGACTTAGTTTGAGGAAACCAGCAGCAGGTCCAGAAGGAGGAGAGAGAACAGTAATGGGAAGGAGAGAGAAGCATAGGAGGGAACAAGGGGCAGAAGAGTACCTTGACAGCCTGTGGGGCCAAAGCCATAGTAGCCAGGGGCACAGAGGTCACAGCGGCGCCCAACCACTCCAGGCTTGCACAGGCACTGACCACCATGAGGGTTGCACTCAGAACTCAGTGAACCTTGAGGGTTGCACTGACATGCTGTGGGGAGGAGGGTTGGGCCAAGTCAGGCTGGGTCCCCACCTCTGCCCCATCAACCCACATCACAGACACTCACGCAGGGCACCATTGTAGATGAGGGTGGACAGGCTGATGAGGAGGGGTGCGCAGGCCTCAGAGGGAGAAGTCTTGCTGGGCACCAGACCCTCCTCATGGCATTGGTAGCGTTCAAAGGTGGCCTGGCGCTCCAGGGCAGCAGCATCACCCCCACTAAACATCTCTAGCACCAGGACACGGGGCAGCAGCACCAGCTGAAGGAGTGAGCAAGGAAGATCGCAGTTCAGACCTGGGACCACGTAGGCATTGCCAGAGCACTTGCCTTAGCACTGCCACAAGCCTGCCCACCCTGGCACCACCATGGGCCTGCCTCTTCTGCCACAGACCCCTGCTATCCCTCAAGTCCCACACCACGGGCCCTGCCATCTTGGTTGGTGTGGGCAAGAGGAGATTATTCACCGAGTCAATGAGCAGGCCAGGTCCAGAGTAGGGAGTCTCAGGCTGGGCACTTCCCCCTGTCCGTACCAGCTTCAGATGCAGCTTGTAGGAGATACCAGGCTCAAGGCAGACAGGATTAGGAAATATCAAGTACCTGGGGGCGAGTGGGGACAGGTGCAGTGGGTCATCTAGGGGCCCTGTACAAATCATCTGGGCC
pathogenic
68,530
Variant at chromosome position 49125271, chromosome 3, gene LAMB2 (laminin subunit beta 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome']
TCCTCCTTCTGAGCATCCATCAGTGCCTCTGTCCGATGCCGAGCACTTGCCGAGTTGCTCACAGGGCTAGGTACTGCCAGGGCTGAGGTATTGGCACGACGTTCTGCCTCTGCAGACTGGCTATGGGCATGCCGGATGCTGTCATAGGCACCTAAATTGGGCAGAGGCAGACAGTCAGCTGAAGACTGACCCTGGTCCACCTGCCTAGTTGGCTAACAACTCACCCAGGAAGTTTGAATGTTTGAGCAAGTCAAGATGCTGGTCGAGCTGCCGCAGTGTGAGATTAAGTGCAAGCCTATCTCGCTCCAGACCACTTAGTGCATGGTTGGCATTGAAGTTCTCATCTTGCACATCTGTCAGGTCTGCCTCGAGCTGAGTCAGGTGCTCAGTGGCCTCCCCAATTTCACGCCTGCAATGATGGAGAGGGGGGTGTTTAGAGAGGCTTCAGCCCTGGTCCACTGGGCCTCTGCCCCATCCCACCATGTATTCTTAGGCCCTTCCGCACCGCAGCTCCTCTGTGGCCTCCACAAGCTGTGCAGTGGAGGCGGCTGAGGTGTTGCGGGCACCTACGATGCCCTGCACAATGCCCAGCTTCTCCTGCATGTGCCAGAAGCTGCTCTCAAAGGCACCCAGCACACCCGTCTGTTGCAACTCCTGCGCCCGCTGCTCTAGGCGCTGTGTACGGGCTGCCAAGTCCTGCACCACTCGGTCCCAATCCCCGAAGCATGCATGGCAGGGATGGCAGGCAGGAAAGATTCCTGAGAAGCCACGGGCACACTGGTCACAGCGCACACCAGACACCCCTGGGCGGCAGCTGCAGTGACCTGTGAAGCGGTGACACTGAGGTGTATCTATTCCACGAGAGTCACAATCACAGGCTGCAAGAAAGAGCAGAGCACAGAGTTAGGGTCACTGTGGGGCATTCTGGGAAGTCCTCCATCTACCCTGGCCCCGCTGGCTCCCTCACCATGGCACTGCAACCCAGGGTCTCCCCAGTGGAGCTCTTGGCACTCAGAACAAGTCCGCCCTCCAAAGCCGGCACGGCAGTGGCACTGCCCTGTGAACTGGGGTGGGAACAAGGCAGGGTCAGAGCCTCTATAAGAGGCTAAGCCCTGGAGATAAGACAGACACCTGGCCCCATCTAACCAGGGATCTGCAGGAGGGTCCCATACCTCGTTGCAGGTGGGGCCTCTGGCCCGGCTTGGGTGGCAGGCACAAGGCTGGCAACCATGGCCACTGGTGAGGTTCCAGAAGTTGGGGGCACAGCGGTCACAGCTAGGGCCCTGGACATTGGGGAGGCATGGGCACTGCCCACTGCTTGGATCACAGTGGCACTGGTCAGGAGATGGGCACTGCTGCGGATTTGTGCCCAGCAGGTTGCATGTGCAGCCTGTGCCAACCAAGATGAGCACAGTAGTCAAGAGGAGGCCAAGAAGCAGAACCCCAATTCAGCCATGCCCTCCCACACTCATACTCACGGTGACAGCTCTGTCGGGCAGCCTGCCCATGGAAGCCAGGCTTGCAGTGGGCACAGTGTGGACCCTCTGTGTGGTGTAAACAGCGCAGGCATTGCCCCGTGTGGGGGTCACAGGCATCAGGATCCATTGGGTCAATGTTCCCACTGCACTCACACAGTTGGCACCGGCCACCTGGCCTTGATGGGTCCCCAAAGTGCCCAGGGGCACAAGCTTCACATCGCAGCCCTGCCCACGGTTAAGAGGAAGCTGTGAGTGCTCAGCCCAGCCAACTCACCCTGATCCCACGCCTGCCCCCATCCACTCACCCGTATAGCCTGCCCGGCAGTGGCACACAATCTGCTGGGAATATTCATCCTGGTGGCAAGAAGTAGCAAAGTGCCGTTGGCTCCCAGGGCCTTCAGGACAGGGACAGGGCCGGCACTGGCCCCCATATGGCAGCCGTGGGTCCCCGTGGAAACCAGCAATGCACCTGCAGGGAGGAGGAAGAAGAAATGTGTCATCCCTGGGAAGCCTGCCCACCAACCAACCCACTCATAGCTGCTCCAGTCTCACCTTTCACAGTGCTCACCCCCTGTGTGATCACGGCAGCCCAGGCAAGCGCCTGTGTGGGTGTTGCACTCATCTGCATGCCCATTGCAGACACATGGCCGGCAGCTAGGGAATCCCCACTGGCCACGCTGGCAGCGGTCACAGCGAAGCCCAAAGGCACCAGTTCGACAGAGACATTGCCCACTGGTCTTTTCACAGAGACTGCTGAGTGCCCCCTCGTGGCTGCACTGGCAGGCTAGGAGCAAGGCAGAGCTGAGCCAGAGCCAGGGGAGGGGGTCTGAGGGGAGTGTGGGTGGGGGAGGGTCTCAGGGGAGTGTGAGTAGTGGGAGTCTAGGTGGGAAGGTCAGGAAATGGAAGAGAACTACAACTGACCCAGGTTGAGAGTAGAGGGTCCAAGACTTAGTTTGAGGAAACCAGCAGCAGGTCCAGAAGGAGGAGAGAGAACAGTAATGGGAAGGAGAGAGAAGCATAGGAGGGAACAAGGGGCAGAAGAGTACCTTGACAGCCTGTGGGGCCAAAGCCATAGTAGCCAGGGGCACAGAGGTCACAGCGGCGCCCAACCACTCCAGGCTTGCACAGGCACTGACCACCATGAGGGTTGCACTCAGAACTCAGTGAACCTTGAGGGTTGCACTGACATGCTGTGGGGAGGAGGGTTGGGCCAAGTCAGGCTGGGTCCCCACCTCTGCCCCATCAACCCACATCACAGACACTCACGCAGGGCACCATTGTAGATGAGGGTGGACAGGCTGATGAGGAGGGGTGCGCAGGCCTCAGAGGGAGAAGTCTTGCTGGGCACCAGACCCTCCTCATGGCATTGGTAGCGTTCAAAGGTGGCCTGGCGCTCCAGGGCAGCAGCATCACCCCCACTAAACATCTCTAGCACCAGGACACGGGGCAGCAGCACCAGCTGAAGGAGTGAGCAAGGAAGATCGCAGTTCAGACCTGGGACCACGTAGGCATTGCCAGAGCACTTGCCTTAGCACTGCCACAAGCCTGCCCACCCTGGCACCACCATGGGCCTGCCTCTTCTGCCACAGACCCCTGCTATCCCTCAAGTCCCACACCACGGGCCCTGCCATCTTGGTTGGTGTGGGCAAGAGGAGATTATTCACCGAGTCAATGAGCAGGCCAGGTCCAGAGTAGGGAGTCTCAGGCTGGGCACTTCCCCCTGTCCGTACCAGCTTCAGATGCAGCTTGTAGGAGATACCAGGCTCAAGGCAGACAGGATTAGGAAATATCAAGTACCTGGGGGCGAGTGGGGACAGGTGCAGTGGGTCATCTAGGGGCCCTGTACAAATCATCTGGGCCTCCCCCATCCTTCTCCCAGCAACCAGGCCATTGGCCAAAGCAGAGACTATGGCTGGGTTGCGTTGGGCTGCGCTAGGCCAACAAACAGCTGGGCAGCCCAACAAAGAATCTGCACAGAATAGTCTCATAAAGGTGGCCCTCTAGAATCATACATCCACCTGTGCAGACTCACTGGAAATACTCATAAAGCCTGGAAATCCCAAGAACTTGCCAATTCTCCTCAACAACCACCTCACGCTTCCTCTGACCCCGACCTACAACCTACAATGGCTGCTCCTCTTCATCAACACTATGTCGCCCCCTCTCTCTTTGTCTCCAAGGCTTTCCTTTCCCATTGTGCTGCAAACTCATACTTGGGTTCTTTTATCCCATCCCAAAAATTGTTCTTCAATCCCTCATCTTTTTTCTTTTTATTTTCTGATTTATTTATTTATTTGTTTATTTGAGATGCGGTCTCTGTTGCCCAGGATGGATGGAGTACAGTGCGTGACCTTGGCTCACTGCAGCCTTGACCTCCTGGGTTCAAGATATCCTCCCACCTCAGCCTCCCAAGCAGCTGGAACCACAAGCACACACCACCATGCTTAGCTAATTATTTTATTTTTTGTAGAGACAGGGTCTCGCCATGTTGCCTAGGCTGGTCTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTGTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGTCTAGAGGAATTTTTTTTCTAAACACAAGTCACAG
TCCTCCTTCTGAGCATCCATCAGTGCCTCTGTCCGATGCCGAGCACTTGCCGAGTTGCTCACAGGGCTAGGTACTGCCAGGGCTGAGGTATTGGCACGACGTTCTGCCTCTGCAGACTGGCTATGGGCATGCCGGATGCTGTCATAGGCACCTAAATTGGGCAGAGGCAGACAGTCAGCTGAAGACTGACCCTGGTCCACCTGCCTAGTTGGCTAACAACTCACCCAGGAAGTTTGAATGTTTGAGCAAGTCAAGATGCTGGTCGAGCTGCCGCAGTGTGAGATTAAGTGCAAGCCTATCTCGCTCCAGACCACTTAGTGCATGGTTGGCATTGAAGTTCTCATCTTGCACATCTGTCAGGTCTGCCTCGAGCTGAGTCAGGTGCTCAGTGGCCTCCCCAATTTCACGCCTGCAATGATGGAGAGGGGGGTGTTTAGAGAGGCTTCAGCCCTGGTCCACTGGGCCTCTGCCCCATCCCACCATGTATTCTTAGGCCCTTCCGCACCGCAGCTCCTCTGTGGCCTCCACAAGCTGTGCAGTGGAGGCGGCTGAGGTGTTGCGGGCACCTACGATGCCCTGCACAATGCCCAGCTTCTCCTGCATGTGCCAGAAGCTGCTCTCAAAGGCACCCAGCACACCCGTCTGTTGCAACTCCTGCGCCCGCTGCTCTAGGCGCTGTGTACGGGCTGCCAAGTCCTGCACCACTCGGTCCCAATCCCCGAAGCATGCATGGCAGGGATGGCAGGCAGGAAAGATTCCTGAGAAGCCACGGGCACACTGGTCACAGCGCACACCAGACACCCCTGGGCGGCAGCTGCAGTGACCTGTGAAGCGGTGACACTGAGGTGTATCTATTCCACGAGAGTCACAATCACAGGCTGCAAGAAAGAGCAGAGCACAGAGTTAGGGTCACTGTGGGGCATTCTGGGAAGTCCTCCATCTACCCTGGCCCCGCTGGCTCCCTCACCATGGCACTGCAACCCAGGGTCTCCCCAGTGGAGCTCTTGGCACTCAGAACAAGTCCGCCCTCCAAAGCCGGCACGGCAGTGGCACTGCCCTGTGAACTGGGGTGGGAACAAGGCAGGGTCAGAGCCTCTATAAGAGGCTAAGCCCTGGAGATAAGACAGACACCTGGCCCCATCTAACCAGGGATCTGCAGGAGGGTCCCATACCTCGTTGCAGGTGGGGCCTCTGGCCCGGCTTGGGTGGCAGGCACAAGGCTGGCAACCATGGCCACTGGTGAGGTTCCAGAAGTTGGGGGCACAGCGGTCACAGCTAGGGCCCTGGACATTGGGGAGGCATGGGCACTGCCCACTGCTTGGATCACAGTGGCACTGGTCAGGAGATGGGCACTGCTGCGGATTTGTGCCCAGCAGGTTGCATGTGCAGCCTGTGCCAACCAAGATGAGCACAGTAGTCAAGAGGAGGCCAAGAAGCAGAACCCCAATTCAGCCATGCCCTCCCACACTCATACTCACGGTGACAGCTCTGTCGGGCAGCCTGCCCATGGAAGCCAGGCTTGCAGTGGGCACAGTGTGGACCCTCTGTGTGGTGTAAACAGCGCAGGCATTGCCCCGTGTGGGGGTCACAGGCATCAGGATCCATTGGGTCAATGTTCCCACTGCACTCACACAGTTGGCACCGGCCACCTGGCCTTGATGGGTCCCCAAAGTGCCCAGGGGCACAAGCTTCACATCGCAGCCCTGCCCACGGTTAAGAGGAAGCTGTGAGTGCTCAGCCCAGCCAACTCACCCTGATCCCACGCCTGCCCCCATCCACTCACCCGTATAGCCTGCCCGGCAGTGGCACACAATCTGCTGGGAATATTCATCCTGGTGGCAAGAAGTAGCAAAGTGCCGTTGGCTCCCAGGGCCTTCAGGACAGGGACAGGGCCGGCACTGGCCCCCATATGGCAGCCGTGGGTCCCCGTGGAAACCAGCAATGCACCTGCAGGGAGGAGGAAGAAGAAATGTGTCATCCCTGGGAAGCCTGCCCACCAACCAACCCACTCATAGCTGCTCCAGTCTCACCTTTCACAGTGCTCACCCCGTGTGATCACGGCAGCCCAGGCAAGCGCCTGTGTGGGTGTTGCACTCATCTGCATGCCCATTGCAGACACATGGCCGGCAGCTAGGGAATCCCCACTGGCCACGCTGGCAGCGGTCACAGCGAAGCCCAAAGGCACCAGTTCGACAGAGACATTGCCCACTGGTCTTTTCACAGAGACTGCTGAGTGCCCCCTCGTGGCTGCACTGGCAGGCTAGGAGCAAGGCAGAGCTGAGCCAGAGCCAGGGGAGGGGGTCTGAGGGGAGTGTGGGTGGGGGAGGGTCTCAGGGGAGTGTGAGTAGTGGGAGTCTAGGTGGGAAGGTCAGGAAATGGAAGAGAACTACAACTGACCCAGGTTGAGAGTAGAGGGTCCAAGACTTAGTTTGAGGAAACCAGCAGCAGGTCCAGAAGGAGGAGAGAGAACAGTAATGGGAAGGAGAGAGAAGCATAGGAGGGAACAAGGGGCAGAAGAGTACCTTGACAGCCTGTGGGGCCAAAGCCATAGTAGCCAGGGGCACAGAGGTCACAGCGGCGCCCAACCACTCCAGGCTTGCACAGGCACTGACCACCATGAGGGTTGCACTCAGAACTCAGTGAACCTTGAGGGTTGCACTGACATGCTGTGGGGAGGAGGGTTGGGCCAAGTCAGGCTGGGTCCCCACCTCTGCCCCATCAACCCACATCACAGACACTCACGCAGGGCACCATTGTAGATGAGGGTGGACAGGCTGATGAGGAGGGGTGCGCAGGCCTCAGAGGGAGAAGTCTTGCTGGGCACCAGACCCTCCTCATGGCATTGGTAGCGTTCAAAGGTGGCCTGGCGCTCCAGGGCAGCAGCATCACCCCCACTAAACATCTCTAGCACCAGGACACGGGGCAGCAGCACCAGCTGAAGGAGTGAGCAAGGAAGATCGCAGTTCAGACCTGGGACCACGTAGGCATTGCCAGAGCACTTGCCTTAGCACTGCCACAAGCCTGCCCACCCTGGCACCACCATGGGCCTGCCTCTTCTGCCACAGACCCCTGCTATCCCTCAAGTCCCACACCACGGGCCCTGCCATCTTGGTTGGTGTGGGCAAGAGGAGATTATTCACCGAGTCAATGAGCAGGCCAGGTCCAGAGTAGGGAGTCTCAGGCTGGGCACTTCCCCCTGTCCGTACCAGCTTCAGATGCAGCTTGTAGGAGATACCAGGCTCAAGGCAGACAGGATTAGGAAATATCAAGTACCTGGGGGCGAGTGGGGACAGGTGCAGTGGGTCATCTAGGGGCCCTGTACAAATCATCTGGGCCTCCCCCATCCTTCTCCCAGCAACCAGGCCATTGGCCAAAGCAGAGACTATGGCTGGGTTGCGTTGGGCTGCGCTAGGCCAACAAACAGCTGGGCAGCCCAACAAAGAATCTGCACAGAATAGTCTCATAAAGGTGGCCCTCTAGAATCATACATCCACCTGTGCAGACTCACTGGAAATACTCATAAAGCCTGGAAATCCCAAGAACTTGCCAATTCTCCTCAACAACCACCTCACGCTTCCTCTGACCCCGACCTACAACCTACAATGGCTGCTCCTCTTCATCAACACTATGTCGCCCCCTCTCTCTTTGTCTCCAAGGCTTTCCTTTCCCATTGTGCTGCAAACTCATACTTGGGTTCTTTTATCCCATCCCAAAAATTGTTCTTCAATCCCTCATCTTTTTTCTTTTTATTTTCTGATTTATTTATTTATTTGTTTATTTGAGATGCGGTCTCTGTTGCCCAGGATGGATGGAGTACAGTGCGTGACCTTGGCTCACTGCAGCCTTGACCTCCTGGGTTCAAGATATCCTCCCACCTCAGCCTCCCAAGCAGCTGGAACCACAAGCACACACCACCATGCTTAGCTAATTATTTTATTTTTTGTAGAGACAGGGTCTCGCCATGTTGCCTAGGCTGGTCTTGAATTCCTGGGCTCAAGTGATCCTCCTGCCTCAGTGTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGTCTAGAGGAATTTTTTTTCTAAACACAAGTCACAGNN
pathogenic
68,537
Clinical significance of chromosome 3, position 49129278, gene LAMB2 (laminin subunit beta 2): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome']
CCTGCCTCAGTGTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGTCTAGAGGAATTTTTTTTCTAAACACAAGTCACAGTTGGCAAAATGTCTATAATGGGCACAGCCAGGTTCAATATGTTATTCTCTTTCCTTCTGTTTGAATATTTACATGGTCAAAAACTAAAAGCAATAGGTCAAGTGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGAAAGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCAAGGCATGGTGGCGGGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCAGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAACAAACAAACAAACAAACAAAACATGAAACAATGAAACAGGGCTGGGCACGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGAAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTCGGGATGCTGACACATGAGAATTGCTTGAACCCGGGAGGTGGAGATTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAAAAGAAACATGAAACATGAAACAAATACTACCCAAAATGTAATAAAACATTAATCAGACCAGGCACATCCCTGCTCAGAGTGCTCTGATGCCACAACCCCACCACTACCACCCTCTACCACCACCACTGTGGACCCTCCTGATAGTGACACCAGGTGATTTCCCATTAATTCCTGCCTTGGCCTCTGGGCCTTAGACCCCTGAGAGAGCAGGCCTTGATCTGTCTACTTCCTTTCTGTGAACAGAGCCATGCCCAACAGGGCCTGGCAACCAGCATTCTGGAGGTATTTGAAAGAAGGAACAGATGAATGAGCTGTGGGGTCTTCCAGGTGCCCTGCAGGGAGCTTAGGGCTGGCCCCACAACCCCCTGCCATTGTGAGTGCTACCACCAGTGCCCTCACCTGGCATGTGGTTGCAGAGTCCCTTGGATGCGATCATCCTTGGGCACCAAATGCCCACACAGGCTGTGGGCAGGCACAGGCCCTGGACGCTGCACAATCAGTTCCAACTCTGCCCATTGCTCAGGGACCTGGGAAAACGGGATGATGGAGGAGATGCTCCCACACCCAGAGGTTCAGCCCCAGATTAGATAACAGGGTCTAACCTGGGGCTCTAAGCGCAGCAGCAGGTCATAGTCCATAGCCTTCGGCACAGAGGCCACCAGGAACTCCAGGGTCTGACCTTCCTGTAGCCGCACGAAGCCTGAGCCAGTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAA
CCTGCCTCAGTGTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGTCTAGAGGAATTTTTTTTCTAAACACAAGTCACAGTTGGCAAAATGTCTATAATGGGCACAGCCAGGTTCAATATGTTATTCTCTTTCCTTCTGTTTGAATATTTACATGGTCAAAAACTAAAAGCAATAGGTCAAGTGCAGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGAAAGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCAAGGCATGGTGGCGGGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCAGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAACAAACAAACAAACAAACAAAACATGAAACAATGAAACAGGGCTGGGCACGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGAAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTCGGGATGCTGACACATGAGAATTGCTTGAACCCGGGAGGTGGAGATTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAAAAGAAACATGAAACATGAAACAAATACTACCCAAAATGTAATAAAACATTAATCAGACCAGGCACATCCCTGCTCAGAGTGCTCTGATGCCACAACCCCACCACTACCACCCTCTACCACCACCACTGTGGACCCTCCTGATAGTGACACCAGGTGATTTCCCATTAATTCCTGCCTTGGCCTCTGGGCCTTAGACCCCTGAGAGAGCAGGCCTTGATCTGTCTACTTCCTTTCTGTGAACAGAGCCATGCCCAACAGGGCCTGGCAACCAGCATTCTGGAGGTATTTGAAAGAAGGAACAGATGAATGAGCTGTGGGGTCTTCCAGGTGCCCTGCAGGGAGCTTAGGGCTGGCCCCACAACCCCCTGCCATTGTGAGTGCTACCACCAGTGCCCTCACCTGGCATGTGGTTGCAGAGTCCCTTGGATGCGATCATCCTTGGGCACCAAATGCCCACACAGGCTGTGGGCAGGCACAGGCCCTGGACGCTGCACAATCAGTTCCAACTCTGCCCATTGCTCAGGGACCTGGGAAAACGGGATGATGGAGGAGATGCTCCCACACCCAGAGGTTCAGCCCCAGATTAGATAACAGGGTCTAACCTGGGGCTCTAAGCGCAGCAGCAGGTCATAGTCCATAGCCTTCGGCACAGAGGCCACCAGGAACTCCAGGGTCTGACCTTCCTGTAGCCGCACGAAGCCTGAGCCAGTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAN
pathogenic
68,555
Variant chromosome 3, position 49129644, gene LAMB2 (laminin subunit beta 2): benign or pathogenic? Disease(s)?
pathogenic; ['LAMB2-related_disorder', 'LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome']
GAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCAGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAACAAACAAACAAACAAACAAAACATGAAACAATGAAACAGGGCTGGGCACGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGAAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTCGGGATGCTGACACATGAGAATTGCTTGAACCCGGGAGGTGGAGATTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAAAAGAAACATGAAACATGAAACAAATACTACCCAAAATGTAATAAAACATTAATCAGACCAGGCACATCCCTGCTCAGAGTGCTCTGATGCCACAACCCCACCACTACCACCCTCTACCACCACCACTGTGGACCCTCCTGATAGTGACACCAGGTGATTTCCCATTAATTCCTGCCTTGGCCTCTGGGCCTTAGACCCCTGAGAGAGCAGGCCTTGATCTGTCTACTTCCTTTCTGTGAACAGAGCCATGCCCAACAGGGCCTGGCAACCAGCATTCTGGAGGTATTTGAAAGAAGGAACAGATGAATGAGCTGTGGGGTCTTCCAGGTGCCCTGCAGGGAGCTTAGGGCTGGCCCCACAACCCCCTGCCATTGTGAGTGCTACCACCAGTGCCCTCACCTGGCATGTGGTTGCAGAGTCCCTTGGATGCGATCATCCTTGGGCACCAAATGCCCACACAGGCTGTGGGCAGGCACAGGCCCTGGACGCTGCACAATCAGTTCCAACTCTGCCCATTGCTCAGGGACCTGGGAAAACGGGATGATGGAGGAGATGCTCCCACACCCAGAGGTTCAGCCCCAGATTAGATAACAGGGTCTAACCTGGGGCTCTAAGCGCAGCAGCAGGTCATAGTCCATAGCCTTCGGCACAGAGGCCACCAGGAACTCCAGGGTCTGACCTTCCTGTAGCCGCACGAAGCCTGAGCCAGTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAG
GAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCAGTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAACAAACAAACAAACAAACAAAACATGAAACAATGAAACAGGGCTGGGCACGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGAAGATCGAGGCCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTCGGGATGCTGACACATGAGAATTGCTTGAACCCGGGAGGTGGAGATTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAAAAGAAACATGAAACATGAAACAAATACTACCCAAAATGTAATAAAACATTAATCAGACCAGGCACATCCCTGCTCAGAGTGCTCTGATGCCACAACCCCACCACTACCACCCTCTACCACCACCACTGTGGACCCTCCTGATAGTGACACCAGGTGATTTCCCATTAATTCCTGCCTTGGCCTCTGGGCCTTAGACCCCTGAGAGAGCAGGCCTTGATCTGTCTACTTCCTTTCTGTGAACAGAGCCATGCCCAACAGGGCCTGGCAACCAGCATTCTGGAGGTATTTGAAAGAAGGAACAGATGAATGAGCTGTGGGGTCTTCCAGGTGCCCTGCAGGGAGCTTAGGGCTGGCCCCACAACCCCCTGCCATTGTGAGTGCTACCACCAGTGCCCTCACCTGGCATGTGGTTGCAGAGTCCCTTGGATGCGATCATCCTTGGGCACCAAATGCCCACACAGGCTGTGGGCAGGCACAGGCCCTGGACGCTGCACAATCAGTTCCAACTCTGCCCATTGCTCAGGGACCTGGGAAAACGGGATGATGGAGGAGATGCTCCCACACCCAGAGGTTCAGCCCCAGATTAGATAACAGGGTCTAACCTGGGGCTCTAAGCGCAGCAGCAGGTCATAGTCCATAGCCTTCGGCACAGAGGCCACCAGGAACTCCAGGGTCTGACCTTCCTGTAGCCGCACGAAGCCTGAGCCAGTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGN
pathogenic
68,558
Chromosome 3, position 49129967, gene LAMB2 (laminin subunit beta 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome']
CTGACACATGAGAATTGCTTGAACCCGGGAGGTGGAGATTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAAAAGAAACATGAAACATGAAACAAATACTACCCAAAATGTAATAAAACATTAATCAGACCAGGCACATCCCTGCTCAGAGTGCTCTGATGCCACAACCCCACCACTACCACCCTCTACCACCACCACTGTGGACCCTCCTGATAGTGACACCAGGTGATTTCCCATTAATTCCTGCCTTGGCCTCTGGGCCTTAGACCCCTGAGAGAGCAGGCCTTGATCTGTCTACTTCCTTTCTGTGAACAGAGCCATGCCCAACAGGGCCTGGCAACCAGCATTCTGGAGGTATTTGAAAGAAGGAACAGATGAATGAGCTGTGGGGTCTTCCAGGTGCCCTGCAGGGAGCTTAGGGCTGGCCCCACAACCCCCTGCCATTGTGAGTGCTACCACCAGTGCCCTCACCTGGCATGTGGTTGCAGAGTCCCTTGGATGCGATCATCCTTGGGCACCAAATGCCCACACAGGCTGTGGGCAGGCACAGGCCCTGGACGCTGCACAATCAGTTCCAACTCTGCCCATTGCTCAGGGACCTGGGAAAACGGGATGATGGAGGAGATGCTCCCACACCCAGAGGTTCAGCCCCAGATTAGATAACAGGGTCTAACCTGGGGCTCTAAGCGCAGCAGCAGGTCATAGTCCATAGCCTTCGGCACAGAGGCCACCAGGAACTCCAGGGTCTGACCTTCCTGTAGCCGCACGAAGCCTGAGCCAGTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGC
CTGACACATGAGAATTGCTTGAACCCGGGAGGTGGAGATTACAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAAAAAGAAACATGAAACATGAAACAAATACTACCCAAAATGTAATAAAACATTAATCAGACCAGGCACATCCCTGCTCAGAGTGCTCTGATGCCACAACCCCACCACTACCACCCTCTACCACCACCACTGTGGACCCTCCTGATAGTGACACCAGGTGATTTCCCATTAATTCCTGCCTTGGCCTCTGGGCCTTAGACCCCTGAGAGAGCAGGCCTTGATCTGTCTACTTCCTTTCTGTGAACAGAGCCATGCCCAACAGGGCCTGGCAACCAGCATTCTGGAGGTATTTGAAAGAAGGAACAGATGAATGAGCTGTGGGGTCTTCCAGGTGCCCTGCAGGGAGCTTAGGGCTGGCCCCACAACCCCCTGCCATTGTGAGTGCTACCACCAGTGCCCTCACCTGGCATGTGGTTGCAGAGTCCCTTGGATGCGATCATCCTTGGGCACCAAATGCCCACACAGGCTGTGGGCAGGCACAGGCCCTGGACGCTGCACAATCAGTTCCAACTCTGCCCATTGCTCAGGGACCTGGGAAAACGGGATGATGGAGGAGATGCTCCCACACCCAGAGGTTCAGCCCCAGATTAGATAACAGGGTCTAACCTGGGGCTCTAAGCGCAGCAGCAGGTCATAGTCCATAGCCTTCGGCACAGAGGCCACCAGGAACTCCAGGGTCTGACCTTCCTGTAGCCGCACGAAGCCTGAGCCAGTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCN
pathogenic
68,565
Variant at chromosome position 49130417, chromosome 3, gene LAMB2 (laminin subunit beta 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['LAMB2-related_infantile-onset_nephrotic_syndrome', 'Pierson_syndrome']
GCTGTGGGGTCTTCCAGGTGCCCTGCAGGGAGCTTAGGGCTGGCCCCACAACCCCCTGCCATTGTGAGTGCTACCACCAGTGCCCTCACCTGGCATGTGGTTGCAGAGTCCCTTGGATGCGATCATCCTTGGGCACCAAATGCCCACACAGGCTGTGGGCAGGCACAGGCCCTGGACGCTGCACAATCAGTTCCAACTCTGCCCATTGCTCAGGGACCTGGGAAAACGGGATGATGGAGGAGATGCTCCCACACCCAGAGGTTCAGCCCCAGATTAGATAACAGGGTCTAACCTGGGGCTCTAAGCGCAGCAGCAGGTCATAGTCCATAGCCTTCGGCACAGAGGCCACCAGGAACTCCAGGGTCTGACCTTCCTGTAGCCGCACGAAGCCTGAGCCAGTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTCTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCG
GCTGTGGGGTCTTCCAGGTGCCCTGCAGGGAGCTTAGGGCTGGCCCCACAACCCCCTGCCATTGTGAGTGCTACCACCAGTGCCCTCACCTGGCATGTGGTTGCAGAGTCCCTTGGATGCGATCATCCTTGGGCACCAAATGCCCACACAGGCTGTGGGCAGGCACAGGCCCTGGACGCTGCACAATCAGTTCCAACTCTGCCCATTGCTCAGGGACCTGGGAAAACGGGATGATGGAGGAGATGCTCCCACACCCAGAGGTTCAGCCCCAGATTAGATAACAGGGTCTAACCTGGGGCTCTAAGCGCAGCAGCAGGTCATAGTCCATAGCCTTCGGCACAGAGGCCACCAGGAACTCCAGGGTCTGACCTTCCTGTAGCCGCACGAAGCCTGAGCCAGTCCAGGATGGAGTTTCCCCGGGGGTCACCAGGCGCTCCACCACATCGAGCACCTGGGAGATAATGCAGCCAGGGATGGAGGCTCAGGTGAGGCTTTGCCTCTTCTGCCACAGCCAGCCCCAAACCCCATTTCTCCTGCCAAAGCTAGATATCACCCCTATCCCCTCAACAAGGTACTGCCCATAACCCCACCTCTCCAGTCATAGACGTGTCCACCCACATCCAGCCCTCTGCTTAGGGGGAGGCCCCACACCTGCCCTCGGGTGTCCTCAGCCTCCCAAATTAGGTGGTCCAGGAAGGGCCGGAAGTAGCCAGGTTGCACCTGCTCACAGCGTCGCCCAACCATGTGCTGGCGGCAGTGGCATTGACCTGTGCCCTCATCACACCTGGAGGGAACTCTGTGGTTACTCAAGAAGAACCTTCTCTTCTGCTCAGGATCTTTCCCCATCCCTTCCCAGGCCCCCTTTACAACACTTACTGGGGATCCAAAGCACCACCCACGTCGCAGTCACAGGGGCGGCAGCCGAGCAGGTCGTGGCTCAGGCCCCAGTGGCCAGGCTGCACGAAAGGAGTTGCTGGGGGCCAGAAACAGACCTCCAGACCCCATCACCACCCAGCAGGAAATCCCAACCACACGTCTTAGCCTCAATCACCCCTCAGTGAAAACATGCCCCCCAGACCACTGGCCCACATCCTTGGCCTCCCAGACCTGAGGCTTCTCAGCCAGGACTGGATCCTAAGCTCTCAGCACCCACCCACTGGCATAGATGTGACACCCCAGCCCTGTGCTCTAAGGACAAATCATGCCCCTAGAACTCCAGCCCCTTCCAGTCGCACCAGGCAGCGGTCACATCCACGTCCAGTCACTAGACGTTTGCAGTAACAGGATCCACTGTTGGGGTCACAAGGAGTGCTCCCAGGCACTGTGCCCCGTGCATTACATTGACATCCTGCAGGGAAGGAGAACCATCAGCACTTTGGGAAACTGTGGCAGTGCTCATGTTCAGCTGAGTCAGGAGTAAGAGGACAGGGGTTAAAGGTCAGCATAGAAGTTAGGGCAGGAGACACATACGCCGGCAGCCCAGACGGTCACTGATGCTGAGCCCAAAGAAGCCATCACGGCATTGCTGGCAGCGAGTGCCCACCACATGTTCTTTGCAGCGACACTGGCCGGAGACCAGTCCCAGTGCAGGGTCATCATGGGAATCACAGCGACCACCGTCTTGAGAACCCATGGGGTCACAATCACAGGCTGACGGCAAAAAGAGATACAGGGTCACTCACCCTATCTCAACTAGCTCACTGCCAGTCCTCTCCTAAGCCTAAGGGATCCCACCCTGGATCCCTGGTCAAGTTCTATCCCAAGCCCCTAACCCCAATTTCCTGCAATTTAGACAGCAGTCCAGCTCTCTAGTTCCTGCCCCAGGCTCAGCTTTCTCTCCCCGTGCCCAATCCCAGCCTCACAGCGGCACACAGCCGGATCCCGCAGGTCCTTGGTTGGGTCACGGTAGAAGAAGGGCCGACAGAGCTCACAGTGGCGCCCAGCTGTGTTATGCTGACATCCATCACACACACCTCCACTCACATTGCCAGATGCCAGGTATACGGCCATGTCGAAGTGGCAGCTGTGGGTGTGCCCATGGCACTCACACTGGCAGGGGAGGAAGGGCAGGGCAAAGGCCACATGAGGAACCAGGTCACAAGGGTAAGAAGTAGGCCACCTTAGATCCCTATCACAGGCCAGAATTTGTGGGTAGGGGCTCAGGGACTTCAAGGCCTCAGCATCATACTGGTTCCCTACCCAGAGCAGACTGCAGAGGAGGATTGAGGGGGTCCCAAGGGGCATCAAGGTCTGCATACTCTTTGGATACAGCCTGGGTTTTAGGGGCTTGACCAACTAGCTCTAGGTTCTACCCAGGGCACAGCCAGGCTGCAGAGTGCTGGAGCTATGGAGGCCAAGATCTCACTCACTCCTACAGGCATGACTATGGCCGTCCTCAGCCGGACGCCAGGGCAGGTCACGATAGAAATCCTGACACTGCTCGCAGTTGAGGCCACGTGTGTTGTGTTTGCAGATGCAAGCTCCGTGCACCTATAGAGGTTGGCAGGTAGGTTGTCAGCACTGCTCAGCCATGTCCGCCCCTGCCCCTAGCCCTATCCCAACCGTCTGAAGCCCCTTACCATGCCCTCAGCATGGGCTGGTGCCCCTGGGGCGGGTGCACACTCTGAGGCGTGTCCGTAGCAGAAGCAGTTGCCACGTACAACCAGCTCATAGAGGGCATAGTAGTACTTCTCTCGGATCTCCCTCCGTGGGTCGAGTAGGTTGTCTCCCAACGTGTGTAGACGAGTCAGGTTCACCCGTAGGTTGGTGATCTTCAACAGGTCTGAGGCGGGGGAAGGGGGGCCAACTGACCAGGCAGGCCCTTGCTGCCCCATGTCCACCCAGGGGCTCAGCTGCCAAGGTCACCTTGAAAGACCTCCTATACACTGCCACCCGAGCTAAACTGGGCTTGGCACCTGCCCTAGGAAGCACCCAAAATAGTTACTGAGGCCCCAAATAGTCCCTAGCCGGACACGGACTGTGCCAGACTCAAAGGGTGGAGCACTCACTCTGAATCCGTGAGCTGTAGGGGTCTGGGATAGGGATGGCAGGGTCCAGCACACGATAGATGACCTGGAGAAGCAGGGAGTTCATAGTCACACTGGACCTTGCCTCAGGCCCATCATCCCCAGCTTCCAGCCCCCAGCCCAGATGCCAGCCCTCACCTCGCCTTCAGTGGATGGCTCAATCTCTGAGTAGCGGGACTCACAGACTACATCATCCCAGTGCCGTGGGGGTGCTAGTGGGACTCCTGGGAAGTCAGCCCCACAGTCATAGGAGAAATATCGGTACACATGCCAGGTGCGGCCAAAGTCTGCTGAGCGTTCCACCAGCATGGCAGCAGGGCGAAATGTCTGGGTAGGGGGGCATAGCTGATCAGCAGGCACCAGGACCCAAGCCCAACCCAGAGCCATCAAGAGCCCTGCTCAGCCCAAGACTGCCCTCAAATAGCTCACAGAGAGTGGGGGTGACTGGTGGAAGCCAGATAATGACCAGCAAAGGTAGCCACCTCTAATGGGGAGACTCAGGGTTCATGGGGCTCAGGGAGACAGCGCCTGACCCAGCCTGGGATTGGAAAGGCAGAAGAGCATGTGCAAAGGCCTGGAGGCAAATGGAAGGTGTGAAGGGATGAAGGAGCCTCCTGCATCCATGCTCAAGGAGGCTGTGTTAAGGAGCTGAGGCTCTGTCCAGGGGCAATGGAGAGCCAAGCAGGGTGATTCGGGCAGGCTCCCAGATATGCAGGCACCTTGAAGGTCATAATGAGGTGTGTGAAATGAAACTCAGCCTCCAGGTCCAGCTGGATGGTGACCGCAGGGATACCTGGGACAGGAATCGGAAGTCAAGGACTCAAAGCTACTGGTGGGCAGCCCTGCTCACTTTTGCCCCACCCATGGCCTCACCATTCTCTGACTGCCACCAGGCTGCCCGCCGCTGTGGTGCAAAGCTGGTGACTACATTCTGGATGCGATGGCTGTGTGGGTTGTCTCTAGCAGAGAAGGGGCGCCGGGAGTCACAAAGGAAGCACTTCTTTTCGTCCTGGGTTGGATGGGGATTAGAATCAGTGCCTCAGGCAGTGCCAGCCCCACCCTGACTCGNN
pathogenic
68,568
Gene AMT (aminomethyltransferase) variant at chromosome position 49417643 on chromosome 3: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_1', 'Glycine_encephalopathy_2']
GCCCTGAGTTTTCTGAATCTCTGGTTTTGCTTTGTTGGCAAGGAGCCAGGGAATCCTGACCTGAGCCAGACCTTAAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAAC
GCCCTGAGTTTTCTGAATCTCTGGTTTTGCTTTGTTGGCAAGGAGCCAGGGAATCCTGACCTGAGCCAGACCTTAAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACNN
pathogenic
68,592
Considering the genetic mutation at chromosome 3, position 49417695, impacting AMT (aminomethyltransferase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Glycine_encephalopathy']
ATCCTGACCTGAGCCAGACCTTAAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCT
ATCCTGACCTGAGCCAGACCTTAAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTN
pathogenic
68,593
Mutation at chromosome 3, position 49417717, within AMT (aminomethyltransferase): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Glycine_encephalopathy']
AAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTG
AAGCTCTATGGTTATTTAGCTGGCCATTCAGGTATAAGGCAGGGTGGTGTACCTGCTGGCACTATCCAGATGGAGGCACCAAACACCCACATACCTGGCCCAACCAGACTTCTCCCGTGAGCCAGGCAAAGGAAATTGTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCT
pathogenic
68,594
Is chromosome 3, position 49417854, gene AMT (aminomethyltransferase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_2']
GTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAG
GTCATCTGCCAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGA
pathogenic
68,596
Considering the variant on chromosome 3, location 49417863, involving gene AMT (aminomethyltransferase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Glycine_encephalopathy']
CAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAA
CAACTGTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAN
pathogenic
68,598
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 49417868, gene AMT (aminomethyltransferase): what disease(s) if pathogenic?
pathogenic; ['Glycine_encephalopathy']
GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTA
GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGT
pathogenic
68,599
The chromosome 3, position 49417868 genetic variant in gene AMT (aminomethyltransferase): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Glycine_encephalopathy']
GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTA
GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGACCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAN
pathogenic
68,600
Is the genetic mutation found on chromosome 3 at position 49417868, within the gene AMT (aminomethyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Glycine_encephalopathy']
GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTA
GTCCTACTCATATTCCTCTCAGTCCTTCTTGGGGGTAAGCTGATTACCTGAAGGACAGCTGAACCCCTGGGGTAGCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAN
pathogenic
68,601
Classify the chromosome 3 variant at position 49417942 affecting gene AMT (aminomethyltransferase) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Glycine_encephalopathy']
GCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACC
GCCTCCTATCCACCACTGCTTAAGTGCCTATGGGAATGTGGGTCTGCACCTTGTCCCCTCATAGGATGGTACCAAGCATTTAGTGCACAGTGGCCCCATCATAGCCTGCAGCCTCATCATTTCCCATCTGGACCTGGTACAAATGCACGTCACAGGCTCAGCTCCTCCCCACTAGCATTTTCTCTACCTTCAAGAACCAGGCAGCCCTGCCATGTCACAATAGGCCAGGGGAGTTTCCAAAGATGTGGGTGGCAAATGCCCCTATAGAAACACCAGTACCTGAAAGCACTGTAGCCCTGGACCTGCCTCCTTCCCTCGGGGCCATACTTCTGTTTCCATCTGCTGGGCCACCAGCCACTTTAGTGACCCCTGCCTACTTCCTTCCTGTTGGATATCATACTTCCATCTGGCTGCCTTTGCTTAAGCCATCTTTGTGGTAGAGGGGCCCTGGAATTGCAGCTGTACTGAGGATGATGTTATTCACAGCCCCTGGCCCACCCACTAATACTACTGCACAGAGTCAGGATCTCACATTTCACCCCAGGCTCAACTGAGGATGTGGCTTATTAAACACGGAAGTGCATCGGTTGTTGTGGTTATTCAGACAGAACAAGGGTGTGCATGCACAGGGGCAGTGAGAGAGGGAACATCCTGGAAGCTGTTGCCCCTTGGGACCCAGATGCAATAACTTGCAGGGAGGGGAGAGGTGATGCAGCTCCCTGGAGGAGCAGGGATGGGGTGCCCAACAGGGGCAATATCTCCATTTTTATAGACTGGCCCCTTTCAAGGAGAACCTATTCCAAGCTTGTCTTGGAGGCCAGGAAGGCAGGCATTGGGTTGGCATTTCAGGAACCCTGTGAACAGAGAACAATGAAGCTAGAGACTGGCAAGTAAGAAGGAAGTTTAATTTTTTTTTCAGGATTCAGTGGAGTCCATTAATGCATACCAGGGGCAAAGATCAGCCCAGGGTAAGGCAAGTCTGGGAGGAAGCCCACCCTGCCCTACAGCAGCCCTGGAACTCAGAATAGGTGGTGAGTCTGCCATGGTTTGCTACTGGGCAGCACACTAGACCAACTTGGGAATGTGGAAGAGTGAGTCTATGTTCCCTCAGCCATCCCCAAGTTTACACACAGGCATAGCAGCCCTACTGTGAGTCAGCAATCATTCCTGACTTGCAGTAAGGACAATTTGCATTTACGGAAAGCAAACTGGAGGGGGTAGCCTAAGTCCGCACTGCCCATGTTATTACCCTTTGCAATGTGAAAAACCATGGTGAGGTAGGTTGGGCAGGTTTTATCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCN
pathogenic
68,606
Is the genetic mutation found on chromosome 3 at position 49419238, within the gene AMT (aminomethyltransferase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Glycine_encephalopathy', 'Inborn_genetic_diseases']
TCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCT
TCCTCTCCACAAAGGTGAGCCTTTGCTCCACAGCCAGCACCTGGCAGAGTGGGAGAGATGGCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
68,620
Classify the chromosome 3 variant at position 49419298 affecting gene AMT (aminomethyltransferase) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Glycine_encephalopathy']
GCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGA
GCAGAACCAAAGCTTCTCATTACCCTCCAGCAGGCAAGAGTAGGTCAGTGGGATCATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGG
pathogenic
68,622
Does the chromosome 3 mutation at position 49419352 within gene AMT (aminomethyltransferase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_2']
CATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACT
CATGGACTGAAACAAGACATTGTGTGAGCTGGTCCGTCACTCAGAAGCAGGGTCCTGAAGGAAGCTGGAATGGCATGAGTTAGGTGGGGGGAATAGGTGGTGTGGCCCCTCAACCAGACAATTAGAATCAGCCTCCACCTTAACTGCCCACCCCCAGTGAGTTCTGCCTCAGCTTCTTGACTAACCCCTTGTAGGGGCAAAACTCCTGGAAGGGACAGCCCCACCCTGAGCCAGCTTCACTTGAGGGTATAGTAGTTTGTGGGCACAAAGGGCATCTTGCTGACTACAGCCATCTGCTGCTTCCGCCGCACCTCTACCAGCAGCATTGTCCCTGGACGACTGTACTCGCAGGGCACATAACCCATCGCCACATTCTTCTTCAGAGAGGGGGAGGGGCAGCCACTAGTCACAGTACCTGTCAAGCAAGCATAAGCCACGCATCAGCACCACCCTGCCAGTGCCCCCACCCTCCTGGGAAGAGACAAGGGTTTCCCAGCTTCCCTGGTCCACCTACCAATCTTGGTACCCTCCATGTTCAGGATGGGACTGTGTGCCCGCATGGGGGCCCCCTCACACATCAACCCCACACGCCTCCGCTGCACCCTGCCCTTCAGCTGGGGAACAATGACCTTGGCTCCAGGGAAGTCCATAGCAGCTCGGCGGCGCTTCCCTGGAGAATGACACATGAGACATAAGCCACAGCCCATAGAAGCCCTGGCCACAGGAGGTCCTTATGAGGTCCTCAAGTAACACACTATCTAGCATCAAGGCCCCTTTGCTTGGGCTACTCCAGGCTCTATTCCTCCCTTCACTGCCGTCAGCCAACCAACCACCTCCTATCCCCTGGAGGCCATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTNN
pathogenic
68,624
Variant on chromosome 3, at position 49420203, affecting AMT (aminomethyltransferase): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Glycine_encephalopathy']
CATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAG
CATGCTGCCCACCTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGCCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGNNNNNN
pathogenic
68,629
For chromosome 3, position 49420215, gene AMT (aminomethyltransferase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_1', 'Glycine_encephalopathy_2', 'Neurodevelopmental_delay']
CTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCG
CTGCCGAGCGTCTTCAGTTTCTTTTTTTTTTTTTTGAGATGGAGTCACTCTGTCGCCCAGGCCTAGAATGCAGTGGCACGATCTCAGCTCACTGCAAACTCTGCCTCCCAGGTTCAAGCAATTTACCTGCCTCAGTCTCCCGAGTAGCTGGGATAACAGGCACCCGCCACCACGCCTGGCTAATTTTTATATTTTCAGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTATTCTCGAATTCCTGACCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCAGCATCTTCAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGGGTCTCGCTCTATCGCCCTGGCTGGAGGTGCAGTGGCGCAATCTCGGCTCACTGCAAACTCCGCCGCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACAATGCCCAGCTAATTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGCATCCGGCCAACATCTGCAGTTTCTAATGGGCAAAGGCACAGTGGCACCTTCAGGGAAGGGAGGCTCAGGAAGGCTTCAGGCTACATAACCTTTGGATGAGTCATGGGCTGGCTAGTCTTATCAAGGGTCACCCTGACCTCCAGGACCCTATCCTTTAGTGCTGGCCCAGCTCACCCAGTGTCCAACTGAGGCTGCCCTCCACAGGTGTAGTGTGTTCATCAATGTCATTCCCATACAGGCAGAGGCCTGCCTCCAGGCGCAGGCTGTCCCTGGCTGCCAGCCCTGCCAGCTTCACCTCTGGGTTTTTCAGAATAGCTGTTGCCAGGTGAACTGCCCCCGCTACCGGCACCGAGATCTGTATGAAACACCAGAGGGCAGATGGGAAGCTCCCTGTACCACATACCCCCAACCCCTCACATGCATCCTGTGCCCTGTACTGCCCCCACACCACTTCTTGACACACCTCCACACCATCCTCTCCTGTGTAGCCACAGCGGGTCACGCGGCAGCCAGACACGCCAAACACCTCCATCACAGCACTGGTCATGAAGGGCAGTTTCCTCAGGTCATCTGCCACGCCGGCCTGTAGTACCTGGGCTGCAGTGGGGCCTGGGCCCAGGGAGCCAGTGACCAAGTATCCAGGTCCCAGCATCCCTCAAAGCTGGACTAAAGCCTTATTCAGGGACCAGAACAAGCCCTGAGCATGTCTTACTCTGCAAGTGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGNNNNNNNNNNNNNNN
pathogenic
68,631
Located at chromosome 3 position 49421565, the variant affecting gene AMT (aminomethyltransferase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_1']
TGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCC
TGGGAGAAGATGCCCTTGTCCCTAGCCCATGGAGCCTTGTGGTAGGTAGGAGGAGGGCAAGATACAAAACTTAAAATTATGGCACACAAATATCACACCTTCCACACATTCTTCTTGGTATGGCCTCTGTGCTAAGCAGTCAATGAAGCCAGGAAGGCAAAGGTTGGCTCCAACCCCAGCCCAGCCCTCTCACCTTGCAGAGCTAGCAGGGCATTATCCAACACCTCCAGGCCCACATCTCTGCCCTGGTTCTGAAGCTCCCTGACCTTGTCCTAAAAGACAGAAACACAAGAGCATCTGGGGCCACTTACTGAGCAGCTACCATGGGCTGGACGCTGCAGAGCTGGACAGTAGTAGGACAGTGGAGAGGAGGAGGAGGAGGGAGGAAAAAAAAAGGTAGTAGGCTGGTTCCCATCTTACAAGGTCACATAGCTACTAAGTGATAGAGATGACCCAAGCCCAGTTCTGCCACCTCACACCAGAGGGGCCAAGACCCCCTCCCCATGCCTGGTAATCCCCCACCACCAAACCCTGGCGTGCTCCAGAGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAG
pathogenic
68,639
Variant chromosome 3, position 49422110, gene AMT (aminomethyltransferase): benign or pathogenic? Disease(s)?
pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_2']
AGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGG
AGAGGGCCTGCTCTTGAGTCTCATAGCTGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGNN
pathogenic
68,644
The mutation in gene AMT (aminomethyltransferase) at chromosome 3, position 49422137—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_2']
TGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGG
TGTTCATTCACTGAAAGAGCCATTTTCCAGGTCCCTTGTCTGTGCCAACCCTGTCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGN
pathogenic
68,647
Benign or pathogenic: chromosome 3, position 49422190, gene AMT (aminomethyltransferase) variant? Disease(s) if pathogenic?
pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_2']
TCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATA
TCTTGGACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATANNNN
pathogenic
68,649
Is the genetic variant on chromosome 3, position 49422196, gene AMT (aminomethyltransferase), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_1']
ACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGG
ACAACAAGGATACTGCTCTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGN
pathogenic
68,650
Does the variant on chromosome 3 at location 49422213 affecting gene AMT (aminomethyltransferase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Glycine_encephalopathy']
CTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCA
CTATGAACAAGGAAGACAAGGTGTCTAGAACACAGAGGGGGTATACCTGCATGAGGGCCAAATCTTTCTCCCAGCAGCCAGCGTTGGACACCACATACAGGTGGCCCTCAGAAGTATTGGTTACAATCAAGTCATCTAAGATGCCTCCAGCCTCGTTGGTAAACAGCGACAGTGTCCCCTAGGACCAAAGTGGAGCGTTTTGGCTTCCAGGTCCAGGAGGGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCATTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCANNNNN
pathogenic
68,651
Is chromosome 3, position 49422432, gene AMT variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Glycine_encephalopathy']
GGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAG
GGCAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGNNNN
pathogenic
68,655
Clinical impact (benign or pathogenic) of the variant at chromosome 3, location 49422434, gene AMT: what disease(s) if pathogenic?
pathogenic; ['Glycine_encephalopathy']
CAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCC
CAAGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCCN
pathogenic
68,656
A mutation at chromosome position 49422436 on chromosome 3 in gene AMT: benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Glycine_encephalopathy', 'Glycine_encephalopathy_1', 'Glycine_encephalopathy_2']
AGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCCCA
AGGCCAAGGGTGAGCCAGACACAACCCTGGACCCACTTAGTTACCAAAAGGTTATGAACCCTAATGTGAAGGACTCAGGGTGTGCAAGGTACAAGTCTGGGCCCAAGTCCAAGGTCTTTGATCCTCATGCATCAAGTAAGTTTTCATCCCCTCCCTACCTTGGGGTGCTTCCCTGATCTGGTGCAACCTCTGCACCCCTCCCCACTCTGTACTGAGAGTCCCATCTGACACTTAATCTATGACACCTAGGACCTGCTGCTTCACCTACCCAAACCTGGGACGACTTAGCCCATGTGGCAACCCACAGGACAAAAGCTTCAAAGGTCATCTTGATGATCGCAGGCTCTCCTAAGTACTCCATAGCAATGCCCCCAAAAAACTTCCTTAGCCTCCCCACTGGATGGACAAAAAGCCTGAGGTTGAGGGGGTCACATGAATCACCTGGGGATCTTGTTAAAATGAAGGTTCTGATTCAGCAGGTCTGCAGCAGTGCCTGAGACTATATTCCTAACAAGCTCCAAAGATGCTGGTTTAGAGACCACACTTTGTTGTTGTTATTTTTCTTTTTAGACTGAGTCTCACTCTGTTGCCCAGGCCAGAGTGCAGTGGTGCAACCTCAGCTTGCTGCAACCTCAGCCTCCCGAGTAGCTGGGACTACAAGCACGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTAGAAACGAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCCAAGTGCCAGGATTACAGGTGTTTGAGTCACGTCGCCTGGCCAGGGACCACATGTTGAATAGAGAGGGGTTAAGCAGAAGGGATGGCCAGAGAGCAGCATATTAACCTTGGTTTCTGGCCTCCTAGCCTGATGTAGTAAGACTGGGATATTCCCCTCCCTACAAATGTCTGTGTCTCTGGAAATGACTCAGGGATTCTGTCCAAGACTGCAAGCCCTGAGAAGCTGTGTTTGACTCATCTCTGTGCCCCTAAGCCTGAGGTAGGGACTCAGCCCATTTGCTGGCTCATGACTAAGAAAACTCATAGAGCAGAAATAAAAGGGCCCACCTGGTTTGGTCTTAGCTCTGCAATGTCTCCAACCACTAGACTCTCCATCAGCTTCACCCGGTCACTACCAAGTATCTTGGTCTGGGGAAGAGATTGAAAGCCTCAGGCCATTGCAACAGCTACAATCCAAAAGGCTACTAAGCAAGGATGCATCCTCCCTGCCATCCACAGTGCAGTCCAGCCCACCCAAAGTGACTAACCAGTCTTTTGGTTCTACACGTGGCAAAGGACCACCTTCTGATTTCCTGACCTCCCCCAGTCACTCTGTGTGGGGGGACTGCCAGGGAACTGGACAGGACCTAGCACCTTCCTGAAATAACCCCTTTTCAAACCAACATCCAGCCCAATACATGAGAGTGGGTGTCAGCCCTGGAAAACCCGGGACATTAAGGCACACCATTTAATGGGGGCAAGCTAGAAGGATGAGATGATGAGACCCTCTGAGCTCATTTCCTTGGGGCCATTGACCTATCCATGACACCCCCATGACCTCTAGCTCTTCTGAGAAGGCTGTCCTTGGAATCCAGTTCACAGCAAACAAAGCCAAGGAGTGGACCACTGTAAACAGGGAGGAAGGCCTGATCAGATGGCCAGTGTGCTCCCCTGGCTCACCTGCAGCATATGAGACACGTCAAAGAGCGAGCAGTGCTGGCGTGTGTGCAGGTGCGAGTCAGTGTGACTGTCCCGGTACTGCACTGGCAGACTCCAACCCGCAAACGCCACCATTTTCCCGCCGTGGGCCAGGTGGAAGTCATAGAGCGGTGTCCTGCGGAGCACCTCCTGTGGGCGGCTGGGCTTAGTGCCACCAGGGCCCTAGCCCCCAGCCGCTTCCCTCCCCCACCCTCCAAGATCAGCACCCTCTATCCCACCTGTGCGCAACTAAGTGGACGACACAAGGCCGGGGGGAATGCCTGCAGGCGAAAGCCCAGACGGGCCACCACACTTAACAGCCCTCTGCATCGTCGCCTGCAACGAGTGCAGACGGCGCACAGAGGCCACCACACTGCCAGGCACGCCGGGAGATGTAGTCCAGGCCTCTGCTCGGACAGGTCTCTCTCCGGAGCAAAGGATCTGAAGGGGGCGTGGGCAGCCCCAAGGGCAGGCTGGGATTTAGAGCAGAGAATGCAGGAACCCGCAACCACAGGGAAGAAGCCTCCAGCTCTTTCGGCTGACTCTTCAGGGCAGCTCGGGCAATCCAGAGCTGATTGGGCTGCCCAGAACAAAGCTAGGGGCTAGACCGCCCCCTGCAGAACCGCCCTGTCTCCAGAGGGTCAAAGTTCTGGAAAGGGCTGAAAGGTCTGAATCATACCTTTAGGACCTCAAGAGAGTAAGGTCAAGTGGGGGTGGGGAAGGTGGGCCAGCCTGGCAGGTAGGCAGCACCACAGTAGTCTGTCCTCATGTGGACCCCTAGTTCCACAGCTCTCCCACCAGGCAGACACAGGCAGCCAGCAGTCATGCATTCCACAAGTATTTATTGATCTTACTGCATACCAGGCCCTCAGATGGGGACACAGCCACGAATGAAGCATGGTCCCTGCTACCACAAGGTCCTCTTCACTTACACACACACTGAGGACTACTGCTTCGTCACGCTTTCCGAAGCAGCTGAGTGGGGCTATGTAAGTGACCTTGCAGATGAAGTCGCCACCTGCAAGAACTCACAGGTGAGAACAGAGGGTGGCCACCAAAAGGTCACTGAACTCCCCCGAGAAAACTGTTGAGCCACACACATGTCCAACTTTCCAGGTCCAAGACATACTGCAGTACTGCTTTGTAATAGCCACCAGGTGCAAAGCCAGGAAGAACCAGAGGGAAACAGGTTTTTCTCACATGAGGGAAGAGCAGCCTGCATCACTTAATGGTTGGACTGAGTTAATGCAGGACTTAGGCCTCTTAAAAGGCAACAATGAGAACCCTTACTTGGACCCACTCCCCACCACGGTTGATCTCTCATTATGCTGAGCATATCTCTTGGAAAGGGGCAGGGCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGTGTTTGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTACAAATACAAAATTAGCCAGGCATGGTGATGCATGACTGTAATCCCAGCTACTCGGGAGACTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTTAGCCAAGATTGCACTATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCAACCTCAAAAAAAACAACAAAAAAGGAGAGGGGCAACTGGGAGAAAGGATAGAGATGTGCTTTGGGCTATGTCAGATGGCAGAAGGGTCCCAGTTCTTTTTTTTTTGTTTGTTTGTTTAAGATGGAGTTTCGCTCTTCTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGGTCCGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCAGGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCCTAGAAGGGTCCCAGTTCTTATGCTCAGGCCCTGGTTTTGCTAGAGACACGTGCCCAGGCCCTATGGGCACACCCACTTGAACATATATTCAGGAGCCAGCTCAGAAACCAAGAGACTCAGGCTGCCCAAATCTTCAGGTTTCCTTCCTAGGCAGGCAGCAGAAGAGTTCAGACAGGAAATTTCTCTCTGTGGCATAACACAAATGGAAAGAAAACCACTAGGGGACACACAGGAAGAAATAAGGTTTCTGTTTCTTCCTCAAGTGTCCCAAGTGCCATGGCAGCAATGGCCTTCCAGGTCCATACATGGAGCAGGTTTTAGTAGGTCAGCCC
pathogenic
68,657
Does the variant on chromosome 3 at location 49530786 affecting gene DAG1 (dystroglycan 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
benign
GCACATCTTAGAGTTGATGCAATGTGGTATCACAAAAGAAACACTATTTGCTAACCCTTAATGAGTGGCTCAGAGAGCAATTAGGAAATGATAACCCTGATAATAATAACGCCTTTTTTTTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGGTTGCAGTGGCGTGATCTCAGTTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTTATGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACATCCGACTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCGCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCATGCCTGGCCCAATAATAATAATTCCTAACAATGTCAGTAATCTCATGGTTAAAAAAAATTTTTTTTTTGAAATAGAGATGGGGGTCTCACTGTGTTGGCCAGGGTGGTCTCTAATGCCTGCTGGCCTCAAGCAATCCTCCCGCCTTGGCCTCCCAAAGTACTGGGATTATAGGTATGAGCTACCATGCCCAGCTTTCTCATACATTTTTGCTGGGTGTAGGAAACCTGTTTAAATTAGTTTAAAGGGGGGAAATTATCTAGTTTCTGATAAGGCTGCTGCCTGGACACCTGGGTACAAGCCTGGGGTCTCCTTTCCAAATCACTCAAGTACTTTGTTTTTTGGCAGGAGGAAGCCCAGGGAACCAGAGGCACTGGGGAATCCAGCAGTCAGTGGCTTTAGCTTTCCTGCCACAGGGAGGGGGAAGCATTTTAGGGTCCCCCTATTGATAAGCAGTGGTCATGAAGGGCAGTCCTAAGCTGAGTCTGGGAGTGTGATGTACTGTGTTTTGGCCAATTTGTCTCTGGTACTTGTTATAGGACAATGGAGATGAGAGTGCCTTCAGGCCAACCAGAGAATGGGGGGTGTCACTTTTCTTGCATTGGGGCAGGAGTAGGTGTTTCCCAAAAGTGAAAGGAGCCACAGATGGGGCTGGGGCAAGAGCTAAGTCATATTTTCCTCTTGTCAGCTGTTGGTGGAGGTTTCTATGGTGGCATTTCCTTGGGTGCTCTGAGTATGACCAGTTATATCTCTGTGGAAAGGGACTTCCACAACAAAAGAAGTCTGGGAGATGCTGTTGAGTTGGAATAAGGTGATGAGCTCCTTAGGCCTGCTTCTGTGCCTGGTCTCTCCAAGGGCAGAAGAGGTCTCTGTGTATTTCCTGTACTTGATTGACTGTAGAACCTCTCTCTTTTAGAGAGACCAGAGCTCCTTGGGATTCCTTTAGTAAGCACTATTCTAGAATAGTTGATTCTAGTCTCTGCTCCCTGGGTACCACAGTTTGTCTTGAGATTTGAGAAGCAGGGTAAATGAAAACATTAGATACAACTAACTCTCTTTGCTACACAAATGTGCCCCACTACACTTGAATGTAACGTGATGTTGTAATGTGAGTCCTTCAGAGCGTTGAGCCTTCCCTTGTACCCAGACCTGTGTGCATCTCCACTTTGGGGCAGGAATGGTCCTCCAGGCCAGGCATGTGACCTGAGCAAAGATGTGGTGTCTGCAGAGGGCCGGGGAGAAGTCTGAGGCAAGGGTGGAAAGGAATGCTGAGGGCTGGAATGTGACTTGATTCTTCAGGTAGAATGGGCAAGTAGGTGGCAGGGCGTGTCACTGTTATAAAATCCACAACAGTCGTGAGCTCCATGGCATCAGTTCTTGGGAATGAGACATGTGCTTGAGTGCCAGCACTGCTGTCTCCCCACTGTGTGGCCTTGGGTGAGATATTTGCCTCCCAAGTTAGCCCATCTCATAGCCCTAGTCTTGTGACAGGTAAATAAACTCAGTTGTGTCTCTCTAGGGGGGAGGAATCAGCTTCCCCAGCAGGCATTCTGAATTATACCTTAAACCTGTCACACAATTCAGGTTAACTGTTGTGATCATATTCAGGTTATGCAGTGACAATAGTATTTTTAATTTATGCTTGTGTCTCTTCTAGGTATCAGCGGCAGGGAAGGAGGCTTTGCCATCTTGGCTGCACTGGGACTCACAGAGCCACACCCTGGAGGGCCTCCCCCTTGACACTGATAAGGGTGTGCATTACATTTCAGTGAGCGCTACACGGCTGGGGGCCAACGGGAGCCACATCCCCCAGACCTCCAGTGTGTTCTCCATCGAGGTCTACCCTGAAGACCACAGTGAGCTGCAGTCGGTGAGGACAGCCTCCCCAGACCCTGGTGAGGTGGTATCATCTGCCTGTGCTGCGGATGAACCTGTGACTGTTTTGACGGTGATTTTGGATGCCGACCTCACCAAGATGACCCCAAAGCAAAGGATTGACCTCCTGCACAGGATGCGGAGCTTCTCAGAAGTAGAGCTTCACAACATGAAATTAGTGCCGGTGGTGAATAACAGACTATTTGACATGTCGGCCTTCATGGCTGGCCCGGGAAATGCAAAAAAGGTGGTGGAGAATGGGGCCCTTCTCTCCTGGAAGCTGGGCTGCTCCCTGAACCAGAACAGTGTGCCTGACATTCATGGTGTAGAGGCCCCTGCCAGGGAGGGCGCAATGTCTGCTCAGCTTGGCTACCCTGTGGTGGGTTGGCACATCGCCAATAAGAAGCCCCCTCTTCCCAAACGCGTCCGGAGGCAGATCCATGCTACACCCACACCTGTCACTGCCATTGGGCCCCCAACCACGGCTATCCAGGAGCCCCCATCCAGGATCGTGCCAACCCCCACATCTCCAGCCATTGCTCCTCCAACAGAGACCATGGCTCCTCCAGTCAGGGATCCTGTTCCTGGGAAACCCACGGTCACCATCCGGACTCGAGGCGCCATTATTCAAACCCCAACCCTAGGCCCCATCCAGCCTACTCGGGTGTCAGAAGCTGGCACCACAGTTCCTGGCCAGATTCGCCCAACGATGACCATTCCTGGCTATGTGGAGCCTACTGCAGTTGCTACCCCTCCCACAACCACCACCAAGAAGCCACGAGTATCCACACCAAAACCAGCAACGCCTTCAACTGACTCCACCACCACCACGACTCGCAGGCCAACCAAGAAACCACGGACACCCCGGCCAGTGCCCCGGGTCACCACCAAAGTTTCCATCACCAGATTGGAAACTGCCTCACCGCCTACTCGTATTCGCACCACCACCAGTGGAGTGCCCCGTGGCGGAGAACCCAACCAGCGCCCAGAGCTCAAGAACCATATTGACAGGGTAGATGCCTGGGTTGGCACCTACTTTGAGGTGAAGATCCCGTCAGACACTTTCTATGACCATGAGGACACCACCACTGACAAGCTGAAGCTGACCCTGAAACTGCGGGAGCAGCAGCTGGTGGGCGAGAAGTCCTGGGTACAGTTCAACAGCAACAGCCAGCTCATGTATGGCCTTCCCGACAGCAGCCACGTGGGCAAACACGAGTATTTCATGCATGCCACAGACAAGGGGGGCCTGTCGGCTGTGGATGCCTTCGAGATCCACGTCCACAGGCGCCCCCAAGGGGATAGGGCTCCTGCAAGGTTCAAGGCCAAGTTTGTGGGTGACCCGGCACTGGTGTTGAATGACATCCACAAGAAGATTGCCTTGGTAAAGAAACTGGCCTTCGCCTTTGGAGACCGAAACTGTAGCACCATCACCCTGCAGAATATCACCCGGGGCTCCATCGTGGTGGAATGGACCAACAACACACTGCCCTTGGAGCCCTGCCCCAAGGAGCAGATCGCTGGGCTGAGCCGCCGGATCGCTGAGGATGATGGAAAACCTCGGCCTGCCTTCTCCAACGCCCTAGAGCCTGACTTTAAGGCCACAAGCATCACTGTGACGGGCTCTGGCAGTTGTCGGCACCTACAGTTTATCCCTGTGGTACCACCCAGGAGAGTGCCCTCAGAGGCGCCGCCCACAGAAGTGCCTGACAGGGACCCTGAGAAGAGCAGTGAGGATGATGTCTACCTGCACACAGTCATTCCGGCCGTGGTGGTCGCAGCCATCCTGCTCATTGCTGGCATCATTGCCATGATCTGC
GCACATCTTAGAGTTGATGCAATGTGGTATCACAAAAGAAACACTATTTGCTAACCCTTAATGAGTGGCTCAGAGAGCAATTAGGAAATGATAACCCTGATAATAATAACGCCTTTTTTTTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGGTTGCAGTGGCGTGATCTCAGTTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAATTCTTATGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGTGCCTGCCACCACATCCGACTAATTTTTGTACTTTTAGTAGAGATGGGGTTTCGCCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCATGCCTGGCCCAATAATAATAATTCCTAACAATGTCAGTAATCTCATGGTTAAAAAAAATTTTTTTTTTGAAATAGAGATGGGGGTCTCACTGTGTTGGCCAGGGTGGTCTCTAATGCCTGCTGGCCTCAAGCAATCCTCCCGCCTTGGCCTCCCAAAGTACTGGGATTATAGGTATGAGCTACCATGCCCAGCTTTCTCATACATTTTTGCTGGGTGTAGGAAACCTGTTTAAATTAGTTTAAAGGGGGGAAATTATCTAGTTTCTGATAAGGCTGCTGCCTGGACACCTGGGTACAAGCCTGGGGTCTCCTTTCCAAATCACTCAAGTACTTTGTTTTTTGGCAGGAGGAAGCCCAGGGAACCAGAGGCACTGGGGAATCCAGCAGTCAGTGGCTTTAGCTTTCCTGCCACAGGGAGGGGGAAGCATTTTAGGGTCCCCCTATTGATAAGCAGTGGTCATGAAGGGCAGTCCTAAGCTGAGTCTGGGAGTGTGATGTACTGTGTTTTGGCCAATTTGTCTCTGGTACTTGTTATAGGACAATGGAGATGAGAGTGCCTTCAGGCCAACCAGAGAATGGGGGGTGTCACTTTTCTTGCATTGGGGCAGGAGTAGGTGTTTCCCAAAAGTGAAAGGAGCCACAGATGGGGCTGGGGCAAGAGCTAAGTCATATTTTCCTCTTGTCAGCTGTTGGTGGAGGTTTCTATGGTGGCATTTCCTTGGGTGCTCTGAGTATGACCAGTTATATCTCTGTGGAAAGGGACTTCCACAACAAAAGAAGTCTGGGAGATGCTGTTGAGTTGGAATAAGGTGATGAGCTCCTTAGGCCTGCTTCTGTGCCTGGTCTCTCCAAGGGCAGAAGAGGTCTCTGTGTATTTCCTGTACTTGATTGACTGTAGAACCTCTCTCTTTTAGAGAGACCAGAGCTCCTTGGGATTCCTTTAGTAAGCACTATTCTAGAATAGTTGATTCTAGTCTCTGCTCCCTGGGTACCACAGTTTGTCTTGAGATTTGAGAAGCAGGGTAAATGAAAACATTAGATACAACTAACTCTCTTTGCTACACAAATGTGCCCCACTACACTTGAATGTAACGTGATGTTGTAATGTGAGTCCTTCAGAGCGTTGAGCCTTCCCTTGTACCCAGACCTGTGTGCATCTCCACTTTGGGGCAGGAATGGTCCTCCAGGCCAGGCATGTGACCTGAGCAAAGATGTGGTGTCTGCAGAGGGCCGGGGAGAAGTCTGAGGCAAGGGTGGAAAGGAATGCTGAGGGCTGGAATGTGACTTGATTCTTCAGGTAGAATGGGCAAGTAGGTGGCAGGGCGTGTCACTGTTATAAAATCCACAACAGTCGTGAGCTCCATGGCATCAGTTCTTGGGAATGAGACATGTGCTTGAGTGCCAGCACTGCTGTCTCCCCACTGTGTGGCCTTGGGTGAGATATTTGCCTCCCAAGTTAGCCCATCTCATAGCCCTAGTCTTGTGACAGGTAAATAAACTCAGTTGTGTCTCTCTAGGGGGGAGGAATCAGCTTCCCCAGCAGGCATTCTGAATTATACCTTAAACCTGTCACACAATTCAGGTTAACTGTTGTGATCATATTCAGGTTATGCAGTGACAATAGTATTTTTAATTTATGCTTGTGCTCTTCTAGGTATCAGCGGCAGGGAAGGAGGCTTTGCCATCTTGGCTGCACTGGGACTCACAGAGCCACACCCTGGAGGGCCTCCCCCTTGACACTGATAAGGGTGTGCATTACATTTCAGTGAGCGCTACACGGCTGGGGGCCAACGGGAGCCACATCCCCCAGACCTCCAGTGTGTTCTCCATCGAGGTCTACCCTGAAGACCACAGTGAGCTGCAGTCGGTGAGGACAGCCTCCCCAGACCCTGGTGAGGTGGTATCATCTGCCTGTGCTGCGGATGAACCTGTGACTGTTTTGACGGTGATTTTGGATGCCGACCTCACCAAGATGACCCCAAAGCAAAGGATTGACCTCCTGCACAGGATGCGGAGCTTCTCAGAAGTAGAGCTTCACAACATGAAATTAGTGCCGGTGGTGAATAACAGACTATTTGACATGTCGGCCTTCATGGCTGGCCCGGGAAATGCAAAAAAGGTGGTGGAGAATGGGGCCCTTCTCTCCTGGAAGCTGGGCTGCTCCCTGAACCAGAACAGTGTGCCTGACATTCATGGTGTAGAGGCCCCTGCCAGGGAGGGCGCAATGTCTGCTCAGCTTGGCTACCCTGTGGTGGGTTGGCACATCGCCAATAAGAAGCCCCCTCTTCCCAAACGCGTCCGGAGGCAGATCCATGCTACACCCACACCTGTCACTGCCATTGGGCCCCCAACCACGGCTATCCAGGAGCCCCCATCCAGGATCGTGCCAACCCCCACATCTCCAGCCATTGCTCCTCCAACAGAGACCATGGCTCCTCCAGTCAGGGATCCTGTTCCTGGGAAACCCACGGTCACCATCCGGACTCGAGGCGCCATTATTCAAACCCCAACCCTAGGCCCCATCCAGCCTACTCGGGTGTCAGAAGCTGGCACCACAGTTCCTGGCCAGATTCGCCCAACGATGACCATTCCTGGCTATGTGGAGCCTACTGCAGTTGCTACCCCTCCCACAACCACCACCAAGAAGCCACGAGTATCCACACCAAAACCAGCAACGCCTTCAACTGACTCCACCACCACCACGACTCGCAGGCCAACCAAGAAACCACGGACACCCCGGCCAGTGCCCCGGGTCACCACCAAAGTTTCCATCACCAGATTGGAAACTGCCTCACCGCCTACTCGTATTCGCACCACCACCAGTGGAGTGCCCCGTGGCGGAGAACCCAACCAGCGCCCAGAGCTCAAGAACCATATTGACAGGGTAGATGCCTGGGTTGGCACCTACTTTGAGGTGAAGATCCCGTCAGACACTTTCTATGACCATGAGGACACCACCACTGACAAGCTGAAGCTGACCCTGAAACTGCGGGAGCAGCAGCTGGTGGGCGAGAAGTCCTGGGTACAGTTCAACAGCAACAGCCAGCTCATGTATGGCCTTCCCGACAGCAGCCACGTGGGCAAACACGAGTATTTCATGCATGCCACAGACAAGGGGGGCCTGTCGGCTGTGGATGCCTTCGAGATCCACGTCCACAGGCGCCCCCAAGGGGATAGGGCTCCTGCAAGGTTCAAGGCCAAGTTTGTGGGTGACCCGGCACTGGTGTTGAATGACATCCACAAGAAGATTGCCTTGGTAAAGAAACTGGCCTTCGCCTTTGGAGACCGAAACTGTAGCACCATCACCCTGCAGAATATCACCCGGGGCTCCATCGTGGTGGAATGGACCAACAACACACTGCCCTTGGAGCCCTGCCCCAAGGAGCAGATCGCTGGGCTGAGCCGCCGGATCGCTGAGGATGATGGAAAACCTCGGCCTGCCTTCTCCAACGCCCTAGAGCCTGACTTTAAGGCCACAAGCATCACTGTGACGGGCTCTGGCAGTTGTCGGCACCTACAGTTTATCCCTGTGGTACCACCCAGGAGAGTGCCCTCAGAGGCGCCGCCCACAGAAGTGCCTGACAGGGACCCTGAGAAGAGCAGTGAGGATGATGTCTACCTGCACACAGTCATTCCGGCCGTGGTGGTCGCAGCCATCCTGCTCATTGCTGGCATCATTGCCATGATCTGCN
benign
68,675
Does the genetic variant at chromosome 3, position 49722697, impacting gene GMPPB (GDP-mannose pyrophosphorylase B), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Abnormality_of_the_musculature', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2T', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A14', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B14']
GAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCC
GAGCTGTGAGTGGGCTGGTGGGGCAGGTCAGGGAAATCTGGGGCTGGGTCGGGTCAGGAGCCTTAAGAACAGCAAAGTCCTAGGCTGGGAATATTCAAGAGGCATCACATCCTCAGCTACCTCTGACTTGACACTACCTACCACTCCCCAGATGCGGATTATATCAGTGCCGATGAGCTGGCCCAAGTGGAACAGATGCTGGCGCACCTGACCTCTGCATCTGCCCAGGCAGCAGCTGCCTCCCTGGTGAGTGGGAACACGGTGCACAGGTCCATGCCACTTGAATATGTGTGCACTCCTACACAGGCACAACGGACATCCACATAGCCAGGCATCCAACTCCAGCCCACCCTTCACTCTCCTCCCTGCAGCCCACCAGTGAGGAGGACCTCTGCCCCATCTGCTATGCCCACCCCATCTCTGCTGTGTTCCAGCCCTGTGGCCACAAGTCCTGCAAGTAAGTGGGCCCCACAGCTTGGTGGTGGGGAGAGCAGTAGGTACATGCAGGGCAGTCCTCATCCCCTCCCCTGTTGTAGAGCCTGTATCAACCAGCACCTGATGAACAACAAGGACTGCTTCTTCTGCAAAACCACCATCGTGTCTGTAGAGGACTGGGAGAAGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCNN
pathogenic
68,735
Mutation found at chromosome 3 position 49723316, gene GMPPB: benign or pathogenic? If pathogenic, indicate the relevant disease(s).
benign
AGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGA
AGGGAGCCAATACGAGTACTACCTCCTCAGCTGCCTAGCCCTCACAGCCTGTGCCATCCTGGAACCTCCACCTTTGAACCCAGAGCCAGGCTGGGCCCTATTTATGAGCTCCCTTTGCCCTTCTCCTGTATCCCACACCACCACATCCAACCTCCTTGCCTGCCTGTATCCTCATTGGTGGGAGCCCAGCCATGGCCCTAATTGTGCCTGAGCTTGACTTTCAGTCAGGGCCACAGTGAGCATTAAATTATTATTCCATACAGCCCTGGCCCTGGCCCTTCTTGAGGGAGTGGGGTTTGTGGGGTGTGCCCAGCAGGGATCCTGCCAGATGATGTCCACATGAGAAGGCAGGTGTCCAACAGCTTCAGCTTCACCCAGTGCCCCCCAGACAAATAATGACAAGTCCAGGGTCTTCTGATGTGTCAGGCCAGCACTCCCCTTGCTGATGGGAAAACCGGGGCTCGGCCAGCCCCACTGCATCCCCTCACATGATGATACGAGGCTCTGGCACTGACTCGCCAATAGACTTGTGGGGCAGCACGCTGGCTCCGTTGAGGTAGAGCTCATCATTAACTATGACGTCCTCACCCAGCACTGTCACGTTCTCCATGCGTACCTCCAGGAGAGGATAGGCCTTGTCAGGGAGGCAGGCACACTCCCCGCCCCTCTCCCCACCCAGCCCAGCCCACAGGCTTACCCACTGACCCACGCGGCAGCGCCAGCCCACAATGCAGGACTCAAGCCAGGAATGGGAACGGATCCGGGCATCCCGCAGCACCGTGCACCGCCGGATACACACACCATCTTCGACCACCACGCCAGGTCCCAGGCTCACATTGGGGCCAATGCTGCAGTTCTGGCCGATGCGGGCACTTGGGTCCTGAGAGCGGTGGGAAAAATACAAGTGGGCCACTTGTCTCCCAAGACTGAGGGGGTTAATGATGGGCTGGGCAAGGGCCTCACCACCAGCACGTTGCCCACAATGCCAGGGCCTGAGCACAGCCGCTCAGGCTGCTTCTGCCTCAGTGACTGCAGGAAGAGGCACATGCCAGTGAGGAAGTCCTTGGGCTGCCCAATGTCCATCCAGAAGCCTGTAGGGAGGGATGCATCAGGGGCCTCAGCCCAGCCACAGACCACCCCCACCCTGTGGCCTCCCTGCCTCACCCTGTAACTCCATGGCATATAGCTGCCCCTCCTTGGCCATAATGGGGAAGACCTCCTTCTCAATGGACGTAGGCTGCAGCTGTGGGAGTGGGCAGCTTGTGAGCAGGGTCATGGCGGTGATGGCCTGCCCCACCCCAGCCCACCAACAGCTGTCTCCTACACACCTGGATGCGCTGCAGCACTGCAGGGCTCAGGATGTACATGCCTGCGTTGATCTTATTGGACACAAACACCTGTGGCTTCTCCACGAACCGGTGAATGCGGCCTGTGTCAGCCTCACACACCACCACACCGTACTTGGAGGGTTCCTCCACCTTGGTCACCTGAATGCAAGGAAGGGGACCTCGGACCTAGTCCAGTGTTCCTAAGCCTTGATACACATGCCGTTCCAGATCTCAAGAGACTCTGCCCCAAGTGCTTAAAGATACATACTGCACAGCTCTGTATCCATAACATCCGAAGGCAGATGAAGGCTAGGGGGCATGGGAGGCTGGGCATGGAGGGTGAAAGTGTCAAGAGAGAGAAGACCTGGCGCCTTACCAGGATGGAGCCCTCCTGGCCATGGTGCCGGTGGAACTGCACCATGGCTTGGAAGGGGAAATCGCAGATCACGTCACTGTTGAGGACGAAGAAAGGGTCTGCAGTCTCAGAGAGTAGGTCACGGGCCAGCGCCAGGGGCCCAGCTGGGGGAAGGGGACAGGTCACCACCTTGCTGGAGGTCTGAGTCCCTGGATTCAGGCTCAGCAGGCCCACTCCAGGCTGGGTCTTACCCTTTTCCTGGCCTTAAACCCTCCCCCAAGGGACCTTTCTGCCTCTACTGACCTGTCCCCAAAGGCTCCTCTTCATGGGACATGGAGATTCGGATTCCCAGCTGGAAGGAAGAGGCCCCCCAGTCAGGTTCTACCAGGATGGGAAGTTGGGCGGGGACCGAGAATAAGGGCCAAGAGTCTGTGCCTCACCCTCTGCTCCTGTGCCTTCATTTCCTTCTCCAGCACCTGCGACATGTAGCTCACGGCCAGGATCACGTGGTCCACGCCTGCCTGTCAGAACGCAGGCCGACGGGCGGGCTCAGTCAGAAGGTACGGGAGCCCCTGACCCCTAGTCGCTGGCCATCCCTAGTCCCGCCAGATCCGAACGCGACTCTGATCCCGACCCAGGGTCTTACCGCGGCTAGCGCCTCCACTTGGTGCAGCAAGATGGGCTTATTGCAGAAGTCCACCAGTGGCTTCGGGGTGCTCAGCGTCAGCGGCCGTAGCCGCGTCCCATAGCCCCCCACTAAGATCAGTGCCTTCATCGCGCCTGCGGACGTTGAGGGGGTGTCCCGGGCTCTGAGGTGCCTGCAGCCCGCCTGGCCGGTCCCTGCCGCGCACTCCCAACGCCGTGCCCGGCCCCGCGCCCTTCACCAACCCGCCTGACAGACTCTGGCTCCACCTCGTCCGCCCGGTCGCCCTGACGCCGGATCCAGGGCCGCCACAACACAGAACGCGACACCGGGTAGACGGCTGCTGGCCCCGAACTCAGGCCGGACCCGGCGCGGGCAGTGACGCGACCACCGCGGGCCAATCGGCTGCCGCGTACGTGGCACGGCCGCCGGCGTCGGAACGTTGGAGCGCAGCGCTGCGACAGACGTAGCCAATGAGCGCCCGAGTACGCCGGGCTGCCATGGAGACCCGGGCCGGGACCCGCGGGTCAGCTGGCCATTGGCGGATCCAAAGGCGGAACTGGCGCCAAGGGCGAGGCCTTGTTCCCTGCTTCGCCGCGGTCCAGCAGCCGCCGGCCCCGCCCCACGGCCCCGGCCTCGCCCCGAGGGTGACCAGGGAAGGCTCCCGGGCCACGGGATTTTCACAAAGACAGACTCGCCTCCGTTTCTAGCGGCTTTATTTTTGACATACACGACCTCAGACACAAGCGGGGCGGGCAGCGCTAGGTGTACAGAAAGGAGCGGGCTCGGACCGAGCACCCCCTCCCCCGCACGCAAGGTCCAAAGCAAACGCAACTGCGGCGGGAGCCACCGGCGCAGGCCTCGGGCGGTGGAGACAGGCTTAGCTTCCAGGAAAGAGCAGCAGAGAGCGATTCCCAGAACGCGAGGGCTTACAGTTCCCCGAGAAGCAAAAGAACCAGGTCCTTCCCAGGGTTCTCCATTATTTTTTCCTCATTAAAATATATTTTAAGTCAGCACAAACATAACCAAATTGTACAGCTTTAAAGTTCAAAGCAGTCTGCATCTAGGGAACGTGCATGTGGTCAGGAGTGAGCGCGTGAGCAGCGGCTACGTAACTAGCACAGGTGCCAGGCCCCTTGATGGGAATCCCCATGCTCACTGCACAGGCCCAGAGAGGGAGGGGTGGGGTCCCTGGCAAGTTGCTACACTGGTCCCCTTCCTCTTTTAAGCACCACCCGTCCCACCCCACCCTCAGGGGCTGGTGTCAGCTTGGCCCAGGGAAGCACTATAGAGAGGGCTCACCTGAGCACCCCAACCCATGATCCCATGTTGCACTTTGTTCCCAAGTTGGGGCTAAGAAGGCTGGGCCTGGCAGGGACAGGGCTCTCTGGCATGGGGCAGGGAGAAAGCAGTGGCAGACAGTATGCACACACACTTGCCCACTACCATTAAATAACAGGGCTGGGTCTCCAGGTGTCCAAAGTGCTGAAAAGAGGGGCCCTGCTCTAAGGGAGCAGCAGCAAATCCCAGGCCTTCCCACTCTTTGTAGTGCCAGGAAAATACTGAATGTAAGTGGGTGCAGCTTTGCTCGCTGTGAGGAGCAGCAGAATGCGGCAGCCTCTCCTCCCAGAATCGAGGAATCTGGGAGGCACAGGACATCCCCAAAAGGTCCCAAACAGTTCCAGACCCTATGTCTTACCCTCCACCCTACCAGGGAATGACTATCTACACTAATGAAGGGCTACTGCCCCCATGGCTGAAGCCACAGAN
benign
68,741
Evaluate this variant at chromosome 3, position 50193396, gene GNAT1 (G protein subunit alpha transducin 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Retinal_dystrophy']
TTTCTCAGCCCTGACCCTACTGAACATGTCTCCCCACTCCCAGGCAGTGCCAGGGCCTCTCCTGGAGGGTTGCGGGGACAGAAGGACAGCCGGAGTGCAGAGTCAGCGGTTGAGGGATTGGGGCTATGCCAGCCCGATTAGAAGGGTTGGGGGGGCTGAGCTGGATTCACCTGTCCTTGTCTCTGATTGGCTCTTGGACACCCCTAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCTGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACA
TTTCTCAGCCCTGACCCTACTGAACATGTCTCCCCACTCCCAGGCAGTGCCAGGGCCTCTCCTGGAGGGTTGCGGGGACAGAAGGACAGCCGGAGTGCAGAGTCAGCGGTTGAGGGATTGGGGCTATGCCAGCCCGATTAGAAGGGTTGGGGGGGCTGAGCTGGATTCACCTGTCCTTGTCTCTGATTGGCTCTTGGACACCCCTAGCCCCCAAATCCCACTAAGCAGCCCCACCAGGGATTGCACAGGTCCGTAGAGAGCCAGTTGATTGCAGGTCCTCCTGGGGCCAGAAGGGTGCCTGGGAGGCCAGGTTCTGGGGATCCCCTCCATCCAGAAGAACCACCTGCTCACTCTGTCCCTTCGCCTGCTGCTGGGACCATGGGGGCTGGGGCCAGTGCTGAGGAGAAGCACTCCAGGGAGCTGGAAAAGAAGCTGAAAGAGGACGCTGAGAAGGATGCTCGAACCGTGAAGCTGCTGCTTCTGGGTAGGGGTGTGGGCCCAGGTGGGGCCACTGCCACCAGGTCATTGGTCTGGAGGCAGGCAGGCAGCCCTTCTGTGAAGCAAGGATTCCCTGGGAAGCAGTATGAGCCTGTGACAGAGTAGGGCACAGGGTGGGAGCCCTGGCCAAGCAAGGCCAGGCCTGACAGGTGGTGTCCTAGTCCCCCAGGGCTGGACATCCCACAAAGCCCCTCTCCAGACGGCTCTGCCTCAGGTGACCCACCCTCCCCAGAAGTGCGTGCCAACCACACTCTTGCACGGGTGTGTGATGCCGACTTTTCCGTGGCTGGGTTCCCGCAAGCTTCATGCAGCCTTTGGTTTGATACGCCTGCTAGGCAATGCTCAGAAGCCAGGAGCCTCACTGGGAGCCCGTTATTGGGCTGCTACTTTGGGAAGGGGATGGCCATAGTCCTCCTGGGAGTGGGGAGCCTCTAGGACCACCCAGATCCACAACGAATGGCCCTCAGGTGCCAGAGGGCTGTGGCTGATAGACCTACAAAGCAGCCAGAGGGGCTGGCGGGTACTGAGGCCCAGTGGGAGTAGATAAAGCCGCGTCCACTGGACCATGGGCACTGAGGAGAGATGGGGCTGATCCAGGCCTGCCTCAAGGTCACTGCCTGACCTCTCAAGGGGAAAAAGCAGCTTCAAGAGGGGCTCCACCCAAGCTCCCCAGGGTCTGGTCAACCAGCTGGAGGTGGGTGAGGGACCAAGCCAGTCCCACTTTCCCCCAAGGCAGAGAGGCTAAGCCGGAAATCTCATTAACTGTGCCCAACGCCCTCGCAGGGGCAAGCTCAGAAAGGATGTCAACTCTGCCCTCCCTCCTACCCAAAAGAGCTAATTCCCTCTGAGCCTCCTGGAGACACCTGCACCCCTTCAGGTGAAATGCAAGGGGTTTACCCGCCTCAAATAACCCAGTGCTTGCGGTACCAGAGGCTCCCACGAGGTGGCGATGACGCTCCGGGATTTCTTCATTGCAGTCTCACAGCATAATAAAGGCTGCCTGTGCCGGGGTCTTGGGGACTCCCCTGTCCCAGAACAGTTGAGGTCGTTGAGTCCCCTCGTTGGCTTCCTTTCTTCACTTTCCTGGCATTTGCAAACCTTGTGACTTCAGGATGTCAGGACTTAATTTGGATGGGGGGGTAGGTGTGGCTACGGGGTCGGGGCTGGCGCTCAGGCCTCTTCGCTGCGGGTCCACCCTGCCAACTCGGGAGGTCCCCGTCCTCCTGGCCTCCTTGCTGGAGGGGGCAGGCTGGTCAGCGCAGCTCTGAGGCGCCGCGTCTCTTTCAGGTGCCGGTGAGTCCGGGAAGAGCACCATCGTCAAGCAGATGAAGTGAGTGCCCCTGCCTGTCCCGAGGCCCCTGGGTCTGGGTCCTTCCCCACTTCCCCACGAGGCGCTGATTCTGCTCTCCTCGGCCTCAGGATTATCCACCAGGACGGGTACTCGCTGGAAGAGTGCCTCGAGTTTATCGCCATCATCTACGGCAACACGTTGCAGTCCATCCTGGCCATCGTACGCGCCATGACCACACTCAACATCCAGTACGGAGACTCGCACGCCAGGTGTGCCAGGAGGCGGGCTGAGCGGGCCTCTGGGGACTCGAGGCTCGCGGCTGGGCCCGAGTCCCTGGCCGCCACCAGCCACTCTCACCCTGCCCCCAGGACGACGCCCGGAAGCTGATGCACATGGCAGACACTATCGAGGAGGGCACGATGCCCAAGGAGATGTCGGACATCATCCAGCGGCTGTGGAAGGACTCCGGTATCCAGGCCTGTTTTGAGCGCGCCTCGGAGTACCAGCTCAACGACTCGGCGGGCTAGTGAGCGCGCGGGCAGCGCGGGGCGCGGGGCGCGGGGCGCAGGGGGCCCTCCACGCCTCCCCACCCACCTACGGCCGGGTCTCGCGCAGCTACCTCTCCGACCTGGAGCGCCTGGTAACCCCGGGCTACGTGCCCACCGAGCAGGACGTGCTGCGCTCGCGAGTCAAGACCACTGGCATCATCGAGACGCAGTTCTCCTTCAAGGATCTCAACTTCCGGTACGACCCATACGCTAGCCCAGGAGGTCACTGCCCCAGGCCCCGTCCTGCCCCGGGGACCCCATCCCTGCGATAGACCCTGCCCCTTCCCTGATACCCCGCCAGCAGAAAGGGTGGTAGTCCCGGCCGAGAGCTCCCCGACCAGCACAGGGCGAAGGGATGTTGCCTGTGGGGCCCGGGGCGCAGGTTCAGGCCCCCGCGGCCCCGCAGGATGTTCGATGTGGGCGGGCAGCGCTCGGAGCGCAAGAAGTGGATCCACTGCTTCGAGGGCGTGACCTGCATCATCTTCATCGCGGCGCTGAGCGCCTACGACATGGTGCTAGTGGAGGACGACGAAGTGGTGCGTGCCAGGCAGGGCCTGTGTTCCAGGGGGGCGAGGAGGAGCTGCTGGTCCCTGGAGGCGGAGACCGCGCGCTGGGCTGGGGGAGGGCACGGGAGGGGATGCCTGTCCCGGGCGGCCTGAGGAGGCCCGGAGGCGTTCAGCAGGCCCATCTGGGGCAGTGCGGGGAGCCCTCTGAGAGCCAGCTGAGCGGGAAGCCCCGCGTGCCCGGGAGCCCAGAGAGCAGGTGCTGCGGGTCGGACGCTACCCCGGGTGCCCAACAGCTGCTGCCCTCCTCAGAACCGCATGCACGAGAGCCTGCACCTGTTCAACAGCATCTGCAACCACCGCTACTTCGCCACGACGTCCATCGTGCTCTTCCTTAACAAGAAGGACGTCTTCTTCGAGAAGATCAAGAAGGCGCACCTCAGCATCTGTTTCCCGGACTACGATGGTGAGAAGTCCGCAAGGCCGCCAGGCGGCGCCCCCGCCCCACGATCGCGGCGCGCACCCCCCGCACGGGGAAGGAAGGGCTGAGCAGAGTGAGAGCTCCCGCCCCCGCAGGACCCAACACCTACGAGGACGCCGGCAACTACATCAAGGTGCAGTTCCTCGAGCTCAACATGCGGCGCGACGTGAAGGAGATCTATTCCCACATGACGTGCGCCACCGACACGCAGAACGTCAAATTTGTCTTCGACGCTGTCACCGACATCATCATCAAGGAGAACCTCAAAGACTGTGGCCTCTTCTGAGGTAGGTCGCTGCCCTCTCCAGGCTCTTGCCTCAATACCCCAGCCCCGTCCAGCTCCCCACCCCACACCACGGCCCTGGAGCCTCACCCCCAAATCCTGGAGCCTACTGCCTCCAGGCCCCACCCCAGCTCCTCAGGCTCCACCCCACCGACAGAGGCCCCGCCCCACCCCACAAGTCCCACCCATTGAATTTCTTTTGGCCCCGCCCCAAGACCTCAGGTGTCACAGCTTCCAGGGCCGCCCCACCACACACAATGCCTAAACCCATTTATTTTGGGTCTCAGGGATGCTGACTGGGTTTCCTTTTCACAGGTGCCTGAATTCATGCGTGTCAGTCACCCTGAGACCTGGTAGCCCTAGCTGCCTTGCAGCCCCAAACCCCAGGACCCTATCAGCCCCCTGGGACTCCCTGGCCCCAACCTGCCACCTCACCAAAGCTCTGAGCCCTGCTAGCCTTGAGGCGCGGACCCTCCCCCATACCTCCCACAN
pathogenic
68,786
The chromosome 3, position 50345137 genetic variant in gene ZMYND10 (zinc finger MYND-type containing 10): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_22']
GTAGGCCCAGGCCCAGTCGGACTGCTCACCTGTCCACACAGTCTGTGATGTAGCGTAGTACTGAGAGGGCCTTCAGTGCAATCTCAAATTCCATCAGCTCTGCCTGCTTCTGCAGCTCCTGGGAGGTCACACAGTGTTCACGCTGGGCCACCCTCACCTGCGCAGGCCTTGGGGAACCCAGACCTAGGCTTTCACAACCCTAGGTAACCTCAACCCACCTGCATGGGGTTGCTGTCCTGGGATCCCTCCCCCTCAGGGGGGCCACCACAGCCACTCTGGGCCACCAGCAGGGTCAGTTTGCGGTGGCAATAGTCTACCAAGTCCAAGACAGTGTCTTCTGCTGACTCACACACCTCCTGGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGACCAGCAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGA
GTAGGCCCAGGCCCAGTCGGACTGCTCACCTGTCCACACAGTCTGTGATGTAGCGTAGTACTGAGAGGGCCTTCAGTGCAATCTCAAATTCCATCAGCTCTGCCTGCTTCTGCAGCTCCTGGGAGGTCACACAGTGTTCACGCTGGGCCACCCTCACCTGCGCAGGCCTTGGGGAACCCAGACCTAGGCTTTCACAACCCTAGGTAACCTCAACCCACCTGCATGGGGTTGCTGTCCTGGGATCCCTCCCCCTCAGGGGGGCCACCACAGCCACTCTGGGCCACCAGCAGGGTCAGTTTGCGGTGGCAATAGTCTACCAAGTCCAAGACAGTGTCTTCTGCTGACTCACACACCTCCTGGGAAAAGGAGGAGGGAAACTTTCTGTGTCTGATGCCTTCCCCACACAGACACAATCTCCCTTCCTGCCAGGCCCTGACCCGGAACTGTGGCCCATGGGCAGAGATAGTCCCTCACCTTGTGGAAGAACACTGTCTCCAAGAGGTTGATGATGGAGGCCTCGTGGTGCACCTGTCAGATAAAGAGAAGGACAGGGCCTGAGGAAGGGATAGGGGCTACCAGCTCTCCTCCCCGGTCCAGAGCCCTCTGAAGGAGTGAGAAGAGGTATGAACCAGGGGCCCAGCTCACCACCATGTAGATGGGGAAGGTGTTCTGGGGCTTGAAGTCCTCCACCCTGCAGAACACAGGGAACACCTTCTGCTTCCACATCTCCACTGCGATCAGCTCCTCCACCAGTGTTGGGACCTTTGAAGGGTAGGGTAAAGGACAGGGATGAGATGGGCCTACCTTTGCCTGGCAACCCTCCCATCCCCGGCTCAGCTCAACCCTGATATCCCCAAACACTGCTGGGCCCCTAAACTATTCCAGACCCATGAGTATCCTTCCTGACTTCTCTCTTGCACCTTGGACCTTCATTACCAGCTGCTCCCAACACCTCTGTGGATGTCCCTCATGCTTATGTGACTGGCTCCTGCCCAGTTCCCAGACTGCCTTGCCCTGCCTGCACCTGCACCCTTATCCTCTGCCCGCCCATTCAGGCATCCCTTTCAAGCCAGCCCTTCTCCTCATGCCCTCCCTCTAGTCCCTGTCTGTGGTCCTCCAAAGCTCTTGTGTGCCTTGGCCTCACTCCTACTCAGGACCCTTCACAGTGCCCTGTTCCTATCCTATCCCCTAGTATGAGTTCCATCTTTCTTTTGCAAAGGACCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCTCTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGCACCACCATGCTCTGCAAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGATGATCCACCCGTCTTGGCCTCCCAAAATGCTGGGATAACAGGCATGAGCTACCATGCCCGGCTTTTTTTTTTTTTTTTTTGGTCAATTGATATCTCAGGTCATCTGCTGGTGACACTCCCTGGTCCATGTTCCAGCCAGGCATCTCCCTGGTTTCTAACTTCCCCCTTTCATGTTGGGAAGGCTGCTTCCTTCCATGCCGAAGTTCCACCTCCAGTTAGGTTATCTCCCCTCCCTCCCGCCCTCCCCAACCCCTCCCCACCCCTTCCCCACCACCAGCCTTACAGTCAATTCACAGATGCCTTTAGCATTTGGGCCTTCCCCTTGAAGCCTAAGCTGTTCTAGGACCTACAGCTTTCTCCCTAATCAACTCATGCCCTGCACCCAGCCTGGTGTGCCAGAGTCCTGTCCAATAGGGATACAAAATGAAACATGTAACACATTCCTCTTTGTCCTTCAGGGAGAACAGGTGTACCAGGCCAGAGGGGAAGGGCACACAGGGGACTCCGGAGGGGTAGAGTAGGTGAGGTATGGGGGAAGGCAGGAACCCTGCCTGTGACCTCGGGGTACCTTCCCATGGGTGAAGCTCCTGAATGGGCTCGCCCTGGCTGACTGTGGCATCGAGGATGGCTTGCATGTTCAGCTTCTCCAGGTTCTCATGCTGCTGGTTCCACCTGCCTCAGAGGGTAAGTGCATGTGCGTCCACGTGTGTGCATTAGGAGTGGGGATGGGGGCTGGATCCTACTGAAGCCTAACCTGATCCTGAGGGGACACAGGGGGCTCAGGAGCAGTAATACTCCTGTCTCGGAACGCTCTGCTCCCCCATTTGGGAGCCCCTCCACACTGGGCAGCCCCTCCCCCGAGTCAGGCCCCAGCTCCCCGACTCAAGGACAATGACTCCGGGACTCCGCCTGACCCGGGTGCCTCACCCTTCGGAGCCCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGANNNNN
pathogenic
68,841
Does the variant on chromosome 3 at location 50347546 affecting gene NPRL2 (NPR2 like, GATOR1 complex subunit) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
benign
CCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGACAAGCCTCCTAGTAGGAGGGACTACCCACAGCAATGTGTCCATCCAGTCACTACCAGCCTCACTTCCAGCAGATGATGATGTTGGGGTCATTTTCAAGCCGCTCATCCAGCTCATGGTAGCTCATGCCTGGGTGGGGTGGTGGAGGAGAGGTCAGTGGCCTTGGCCTGGCCACCCTGCCCTGAACCCACCCTGACTGCCCGCCTGCCTCCACCTGTCTTGCAGCAGATCTCGTCATAGCTGTGGCAGCCTGTATAAAGCCGGGCAGGGTGGCTCTGCTCTTCCCGAGTCACCCGCACAGGATACTTCTGTAGTCGCCTGATGAGGTTCTTCATAAGCCCGAACTGGATCAGCTTCCTAGGGTGAGGATCAGAGGACGGGGTGACGCCCTGGCCAGGCCTTCTTTCAGGCAGGCCAACCCTTTCCTGTAGTCTCCCTTCAATTTTGTCTCTGTAGCCCATCATCTCCAGGAAGCCTGCTTGGATTGGCAGTGCCCCATGATCCAGGGCTCCTGAGAGACATAAAGGGTCTAGCTTCCCTCAGGTAACTCCCAAATGCCCCAGCAAATTCTCCTCTGACCGTTCATCAACATGCTGCAGCTGCTGGGGGTGGCGGCCAATGAGGTCTCGCACGGTAGTGCCAGGGCTCAGGCTGCAGTATAGCTGGAACACATCCCGGAGACTGGCCCTCTTGTGCCCTGTGGGTGCCAGGGATCAGCTCATCATGTGGCCCTGCCCTCCCCAAGATGGCTTCCCCCAGAACCCACCACTACCTTGCTTGGTCACGTAGGATAGACATGCCTCTTGCAGGGACTTGTCATCTACCAGGTCCTGGACCTTGGGCGTTGGGCAGTATACATTGGAGTACTAGAGGGTAGCAGAAGGCATAGGGGCCTGAGTGAGGGGCTTGGGAAGCTGACACAGCCCTGGTCTGGTCCAGCCACATGATCCACTCTCCACTTAACCAAACCCAACTCACCTACCTGGAGGATGGACACCAGTGTCACAACGCCGTAGTACCTGAGAGAGAGAGCTGTGCTCAGCTTCTGAGGACCATGCCTTCCCAACCCTCACACCCAGGGCCCCTGAGGTCTTCCCTGGCTGGTGACCTTGTCCCAGGTATGACTGTAGGCCCACTCACAGCAGGTTCTGGATAGCAATGCGCACCAGGTTGAGCTCCACATCTGCCTCTGCTGAAATCTTCTGGATGTGGCGGAACCCATCAATGTAGGGCAGGATCTGGGCAGAGTGGGACAAGGTCAGAAGAAACAGGATGAGGCCAGGGCTGTGGCCAGCCCCAGGTGATGATACCCAGGGAGGGATGGCATACTTGTTGTGTAGTGAGGTCCCACTGTGAGTTGAAGAAATCCTCCTTGTCTTTGGTAAAGACAGGTACATCATACTCCTGGGCCACCGGAGGGTCTGGCCGCTGCTCAATCACCTTCAAGTGGATGGTGTTGGACTCATCTGCAGGGGGCCCCATCCATATCCTCAGTGCCACTTCTTCCAAGAGGTCCTCAATTACCATCCAGGCCTCCCAGCATCCCTTGGGGCAAGCAGGTGCCTCTGGGTAGGGCTAATCTTTCTCTTTTTATGGAGTGAGAAACGGAGGCCCACAAAGGGGAAGGAATTGCCCAAGGGGCAGAGCTGGAGAGCTCTGCTTTCCCCCTACCCCCAGTCCCAGCTCCATCATGCATTGGACCCTGGACATGGGCACCTCAGCCCATGGCTATTTCCTGCCCACCAATGTGTTCATGAGTCTTGCCCTTCTCCCTGACTAGCTGGGTTCACTTTCCCATCTCTCCTCTACCCCTCTGCTGTCCTTGCAGAGGCTGGCCATACCAATGGGCAGAGTGCACCGGCCTGAGGCATTTAGCTCCTCCAGCAAGATGGTCATGATGGGCACCAACTTCTGCTTGCTCTCCTCCATGGACACGAAGCTGCTCTCTAGCTAGACAGAGCATGGAAAGCATGGTGGGCACATCCCAGGACCCCTGGCTGGTTGGCTGCCCTGAGTCCTGAGCTGGTTTGCAGGGTCCCAGGTTTGGGG
CCATCTCGCGTAGCGGGAAGCTGCGCAGACCCCGCACCAGCACTTCAGCTTCCCCGGGCAGCAGCAGTTCCAGGTCTCCCATATCGAGGCCGGGGTCCGGCGGATCCTGGGCAGCAGCCGGGGTGGGGATGCTGTCACATTCGGGGACGACGGACCCCGACGGTGCCAAAGTCTGGGACAGGACAGTTGCGGGACGGTTGGGGAGCGTCAGTTCTCGCAGCCATGGAAACGGGTTAGCCGCGCCTGCGCAGTGCGGCCTGGGCCCCGCCCCTGGAGGTGGCTCGCGCCTAAATCCGGGCGGGTCTCTAGCCCGCCTCGCCTACGCGACTGCCAATCGCCATAGTATTTGGATTCCCAGCGCTTTCTCGGGCTGTGGCCCACGAGTCTCTCCTGAGCTCCAGATCCTTGTGGTCTGGACTCTGTCCTCAGACGCCAAGTCCGCCTGCACAGGGATGGGGGTAACCCCGACCCCAACAGCCCCTCCTGCGGCTGTGGCATCTTGACCTACCCGCTGCTCTTCCTCCTCCTTATGGCTTCTTGGTTCCTCTATTTCTCGCGTCCCGGCTCCACTAGTTGGCTCCTGAAATACTGCCAGGGCGCACGACTTCTCTCCATCCTCCCTATGTCCAGACTGTCATCACCTGTCATGGGTGAACTGCGGCAGCCTTTTCTGTAGACCTACTTCCACGCTTGATCCTCATGGACAGCCCGGAGCCTTAAAAGTGTATATCAGGCCGGGCGCGGTGGCTGACACCTGTAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTAGACAGGTGTGGTAGCACACACCTGTAGTCCCAGCTACATGGGAGACTGAGGCAGGAGAATCGCTTGAGCACAGGAGGTGGAGTTTGCAGTGAGGCAAGATTGCACCACCGCACTCCAGCCTGGACAACAAAGGGAGACCGTCTCAAAAAAAAAAAAAAAGCATATAGACATTACTCCCTTGCGTGAGAGGGGCTCTGTGGCTACTTCTGGCCCTCAAAATGTTAGGTGGGATGCCGCTTACTAGCAGCTCTGCAAGATCTACTTCTTGTCCTCTCCTGTACCTCGGGACTTGGATTCTTTCCTCTCCTCCTTGCTTCCCTGAACCTCCCTCATACATTCCAAAGAGGTTTTTGCCTCAGAGTTTTGCACTTTGCCTGGAATACTTTTCCTTCAGGGCTCAGTTTACACCTCAGCATGGCCTTTCTTGGCCATTTAATCCAGAGCAGTCCCTGCCTCCAACCCAACTCACTCTTGATCACATCTTTTTTTGAAATTGAGTCTCCTGTCACCTAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTTGTATTTTTTTTTAGTGGAGATGGGGTTTCACTATGTTGGCCAGGCTGTTTTTGAACATCTGACCTCAGGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCGCGCCTGGCTACATCTGCTTCTTTCTAGGTTTATTTATTATTATTATTATTATTGAGATGGGGTCTTGCTCTGTCACCCAGGCTGGGGTGCAGTGATGGGATCACAGCTAAATGTAGCCTCCAACTCGTGGCCTCAAATGATCCCCCCACTTCAGCCTCCTGAGTAGCTGGGGCTACAGGTGAGTCACCGCATCAGGACGATTTTTTTTTTTTTTTTTTTTTTTTTTTGTAATTAACCGGCACTTTTATTTGTCGATTGTCGGTCCTGCCCACCAGATGGCGATCTAGCCCACGGCTCGTGGCTATTTCATTCACTGCTGGGTCTCCCACGGCTGGCCCAGAAACAGCACTCAATAAAGGCTGTTTGAAATGGATGTCTTTATTTACAGAACTAAGAGTCAACCTCTAGACAGTATGAAAGCCTCCTAGTAGGAGGGACTACCCACAGCAATGTGTCCATCCAGTCACTACCAGCCTCACTTCCAGCAGATGATGATGTTGGGGTCATTTTCAAGCCGCTCATCCAGCTCATGGTAGCTCATGCCTGGGTGGGGTGGTGGAGGAGAGGTCAGTGGCCTTGGCCTGGCCACCCTGCCCTGAACCCACCCTGACTGCCCGCCTGCCTCCACCTGTCTTGCAGCAGATCTCGTCATAGCTGTGGCAGCCTGTATAAAGCCGGGCAGGGTGGCTCTGCTCTTCCCGAGTCACCCGCACAGGATACTTCTGTAGTCGCCTGATGAGGTTCTTCATAAGCCCGAACTGGATCAGCTTCCTAGGGTGAGGATCAGAGGACGGGGTGACGCCCTGGCCAGGCCTTCTTTCAGGCAGGCCAACCCTTTCCTGTAGTCTCCCTTCAATTTTGTCTCTGTAGCCCATCATCTCCAGGAAGCCTGCTTGGATTGGCAGTGCCCCATGATCCAGGGCTCCTGAGAGACATAAAGGGTCTAGCTTCCCTCAGGTAACTCCCAAATGCCCCAGCAAATTCTCCTCTGACCGTTCATCAACATGCTGCAGCTGCTGGGGGTGGCGGCCAATGAGGTCTCGCACGGTAGTGCCAGGGCTCAGGCTGCAGTATAGCTGGAACACATCCCGGAGACTGGCCCTCTTGTGCCCTGTGGGTGCCAGGGATCAGCTCATCATGTGGCCCTGCCCTCCCCAAGATGGCTTCCCCCAGAACCCACCACTACCTTGCTTGGTCACGTAGGATAGACATGCCTCTTGCAGGGACTTGTCATCTACCAGGTCCTGGACCTTGGGCGTTGGGCAGTATACATTGGAGTACTAGAGGGTAGCAGAAGGCATAGGGGCCTGAGTGAGGGGCTTGGGAAGCTGACACAGCCCTGGTCTGGTCCAGCCACATGATCCACTCTCCACTTAACCAAACCCAACTCACCTACCTGGAGGATGGACACCAGTGTCACAACGCCGTAGTACCTGAGAGAGAGAGCTGTGCTCAGCTTCTGAGGACCATGCCTTCCCAACCCTCACACCCAGGGCCCCTGAGGTCTTCCCTGGCTGGTGACCTTGTCCCAGGTATGACTGTAGGCCCACTCACAGCAGGTTCTGGATAGCAATGCGCACCAGGTTGAGCTCCACATCTGCCTCTGCTGAAATCTTCTGGATGTGGCGGAACCCATCAATGTAGGGCAGGATCTGGGCAGAGTGGGACAAGGTCAGAAGAAACAGGATGAGGCCAGGGCTGTGGCCAGCCCCAGGTGATGATACCCAGGGAGGGATGGCATACTTGTTGTGTAGTGAGGTCCCACTGTGAGTTGAAGAAATCCTCCTTGTCTTTGGTAAAGACAGGTACATCATACTCCTGGGCCACCGGAGGGTCTGGCCGCTGCTCAATCACCTTCAAGTGGATGGTGTTGGACTCATCTGCAGGGGGCCCCATCCATATCCTCAGTGCCACTTCTTCCAAGAGGTCCTCAATTACCATCCAGGCCTCCCAGCATCCCTTGGGGCAAGCAGGTGCCTCTGGGTAGGGCTAATCTTTCTCTTTTTATGGAGTGAGAAACGGAGGCCCACAAAGGGGAAGGAATTGCCCAAGGGGCAGAGCTGGAGAGCTCTGCTTTCCCCCTACCCCCAGTCCCAGCTCCATCATGCATTGGACCCTGGACATGGGCACCTCAGCCCATGGCTATTTCCTGCCCACCAATGTGTTCATGAGTCTTGCCCTTCTCCCTGACTAGCTGGGTTCACTTTCCCATCTCTCCTCTACCCCTCTGCTGTCCTTGCAGAGGCTGGCCATACCAATGGGCAGAGTGCACCGGCCTGAGGCATTTAGCTCCTCCAGCAAGATGGTCATGATGGGCACCAACTTCTGCTTGCTCTCCTCCATGGACACGAAGCTGCTCTCTAGCTAGACAGAGCATGGAAAGCATGGTGGGCACATCCCAGGACCCCTGGCTGGTTGGCTGCCCTGAGTCCTGAGCTGGTTTGCAGGGTCCCAGGTTTGGGGN
benign
68,844
A genetic variant on chromosome 3, position 50350595, affects the gene NPRL2 (NPR2 like, GATOR1 complex subunit). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Epilepsy,_familial_focal,_with_variable_foci_2']
TCACAACGCCGTAGTACCTGAGAGAGAGAGCTGTGCTCAGCTTCTGAGGACCATGCCTTCCCAACCCTCACACCCAGGGCCCCTGAGGTCTTCCCTGGCTGGTGACCTTGTCCCAGGTATGACTGTAGGCCCACTCACAGCAGGTTCTGGATAGCAATGCGCACCAGGTTGAGCTCCACATCTGCCTCTGCTGAAATCTTCTGGATGTGGCGGAACCCATCAATGTAGGGCAGGATCTGGGCAGAGTGGGACAAGGTCAGAAGAAACAGGATGAGGCCAGGGCTGTGGCCAGCCCCAGGTGATGATACCCAGGGAGGGATGGCATACTTGTTGTGTAGTGAGGTCCCACTGTGAGTTGAAGAAATCCTCCTTGTCTTTGGTAAAGACAGGTACATCATACTCCTGGGCCACCGGAGGGTCTGGCCGCTGCTCAATCACCTTCAAGTGGATGGTGTTGGACTCATCTGCAGGGGGCCCCATCCATATCCTCAGTGCCACTTCTTCCAAGAGGTCCTCAATTACCATCCAGGCCTCCCAGCATCCCTTGGGGCAAGCAGGTGCCTCTGGGTAGGGCTAATCTTTCTCTTTTTATGGAGTGAGAAACGGAGGCCCACAAAGGGGAAGGAATTGCCCAAGGGGCAGAGCTGGAGAGCTCTGCTTTCCCCCTACCCCCAGTCCCAGCTCCATCATGCATTGGACCCTGGACATGGGCACCTCAGCCCATGGCTATTTCCTGCCCACCAATGTGTTCATGAGTCTTGCCCTTCTCCCTGACTAGCTGGGTTCACTTTCCCATCTCTCCTCTACCCCTCTGCTGTCCTTGCAGAGGCTGGCCATACCAATGGGCAGAGTGCACCGGCCTGAGGCATTTAGCTCCTCCAGCAAGATGGTCATGATGGGCACCAACTTCTGCTTGCTCTCCTCCATGGACACGAAGCTGCTCTCTAGCTAGACAGAGCATGGAAAGCATGGTGGGCACATCCCAGGACCCCTGGCTGGTTGGCTGCCCTGAGTCCTGAGCTGGTTTGCAGGGTCCCAGGTTTGGGGGACTTTGGAGACATGGGAACACCTTCCCCAACTCTGCCTGTCGGTAAACCCAAGCCCATCTCATTGCAGACCTCTAGTGTGGTCAGATAGCCAGCCAGCTTTTTAACAATGGGCTCGAGGGCGCAGGTCTTGGCCTGGGCATCACACACGAAGCCCAGGTTGAAGAGGAGAGCATTGCGGCTGTACTTCTTGTGTTCGATGCACACAGGACAGCCGATCAGCTTCTTTTCCATAGCTGTGCTGGATAATTGGAACACAGTCAGGCCCCCAAGCCTGTCCCTTCCTCCTCCTGGGACAACCCCTGCCACCCACCGCTCACCCCGAGCTAGGGTCTCACACAGTGATAAGCTTGTTCTGCAGCTCTGGCTTGGTGATGATGTACACTTGGACTGTGTCAAACAGCTCTCGGGAGATGAAGTCTTCAGGGACCTGGGGAGGGGAGTGGCAATGGGCCCCTCAGTGGACATCTGTACTGGGTGTAGTACAAATGGTGACCTCCTCATGCCCCCCAAGCCCAAGTCCTCTTCTCCAGCGTTCCCCTCTCTCCCATCCACTCAGGCCTATTACTTCTTTCTGTTTCCAAACATACGCTATGATCTCACCTCCTTCCTGGCTTCTGCATATGCTGTTCCCTCTACCTGGAACACTTTCTCCTGCCTTACCTAAACTTCCTATGCATCATTTACTCTTCACTCAGTTCAGGGATACTCATGGGTCACCCAACTCACCTTCTGTGGGACCTGGAACCCCCCAACCGGATCCCTACAGCCCGATATCCTACAAACACTGCCAATGTGACGTATGTCTTCCCTGCCACATTGGGAGCCGGGGGCCTGGGTCTGACTATCCTCTAGCCTCACAGTTGTCTGCGAATGAAGCAGCATGCCTGCGTGCAGCACGGGAAACTACTGCCTTCAGGCAGCCAGTTGAGCTCTCGAGAACGTCCCTCTTCCCGCCCAGTCCCGCGAGCCCGGGTGGCACCTGATAGGTGATCTTGGGTCCCAGCGTGGGGTGGAACTCGCTGAAGAATATGCATTCGATGCGGCAGCCGCTGCCCATGGCAATAACCGGGCCCAGGCCCGTAGCTCCTCGTTCCTCGCGCAGAGGCGTCCCCACCTCCTGTGAACACTTGTCAGAGACAGCCTCGAGGCCTGTGTCGCTGGGGCACGCAAGCTTGCCAATCCCTCTGCCCAATGGCGCCTGCGCAGCGCGACTCAGAGGCGTGGCTGGGGCGGGGGACGGCTCGTCCCAGGAAGTCCTGGGTGGGTAGACGTCGCACCCGGAAGTAAAGCGGCTCCGTGACGGAGCGGCGGTGCGCGCGGCAGGGCCCGGAGTATCCCGCTTTCTTTGGAGGAAACCACCGCATCAGATCTGCGCTGCGGCAGAGGCAGGCAAGTCCCTAGCGTGGAGGGGCAGCATGCTGGCAGCACTTGGGGAGGCGGTGCGCTAAGGGATTCACGCTGTAACTGGGACCGCAGCAGGGAACTACAATTTCCATAGTGCTCCGCGCCCTCCCAGCTGGCTCTACTGCCGGCGACGGCGTGGTACACGCTGGGATTTGTAGTCTTACATGGCTTTGCGCCTCCTACCTGGAAGGCGGGCCAGCGATTGGTACCAGTTCAGACATGGGTACACGTTGACAGGCCGCCGGCCGTCGACTGGCATGTTGTGACCATTCCTGGTGCTGGTCTTGGTACTGTTCTTTCCTACCATAACTTATTGGAAGAGGGTGGCATTCCTGCCTTGCAGCCTTTTCTCCAGTGAGGAGTGAACAGTGGGCACCTGAGATCCTGGCCCACGCTACTATGCTTTCAGGCTACAACCACTAGCACGGCTGACGATGGCCCTTTCTGCGGAGACCGAGTCACACATCTACCGAGCTCTGCGTACTGCTTCTGGCGCTGCCGCCCACCTTGTGGCCCTGGGCTTTACCATCTTTGTGGCTGTGCTTGCCAGGCCTGGCTCCAGTAAGTAGAATTCATAGCTGACTTCTGGGAAGGGAAGGGCCACTGTTCCTGGGGAGGAAGGGCAGTGGGACTTCCGGGAACAGGCCTGGCTGGTTGAGGGAATTCTGTGCTGGAGCGATGAGTGAGGTGGAGCAGGTAGGTATGGCCAGGGCACACAGAATTCCTGGTTTGTCTTTCCTTCTCTGGGTGCTCCATTTGGCTGCCTCTCAGGAGGTGTAAGGGAAGGAGGGAGGACTGCCAGAGGAGTGGCAAAGCATGGCCTCTGATCCAGGAAGAGGCCAGGAAGAGAGGATAGGTGTGGGGTCAGCTTGTTGCAGAGCAAGAAGGGGCTCACAGTTTGGCAGCACCTCCTTGGGTGATGGGCTGCTGGTATTCCTCAACCCTTAAGGATTGGTATGGCTGGTTTCTTCTTGCCTCAGCCCCATGAGGCCTCCTCTTCTCATTCCAGGCCTGTTCTCCTGGCACCCGGTGCTTATGTCTTTGGCTGTAAGTAGTGGGCCTGGGCAGTTCTTAGGGGTGGGAGCATGGGCATGGTTGGTGGCCCTGGCAGCCTCTGAATCTTTGTCCACATTTAATATCTGTTTGGAAGAGTTGCATGCTCCAACTACTCCTGCCCATGGTATATATTTCAGACTTGAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTAGAGGCCGAGGCGGGCACATCACCTGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCATGAACCCAGGAGACGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAACCTCTAACCTAGGCGACAGAGCGAGGCTCTGTCCCAAAAAAAAAAAAAAACCCAAAAACAAAAAAACCCCCCAAAAAACCAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGTTACTCAGGAGCCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGCGGAGATTGCAGTGAGCCGAGATCAG
TCACAACGCCGTAGTACCTGAGAGAGAGAGCTGTGCTCAGCTTCTGAGGACCATGCCTTCCCAACCCTCACACCCAGGGCCCCTGAGGTCTTCCCTGGCTGGTGACCTTGTCCCAGGTATGACTGTAGGCCCACTCACAGCAGGTTCTGGATAGCAATGCGCACCAGGTTGAGCTCCACATCTGCCTCTGCTGAAATCTTCTGGATGTGGCGGAACCCATCAATGTAGGGCAGGATCTGGGCAGAGTGGGACAAGGTCAGAAGAAACAGGATGAGGCCAGGGCTGTGGCCAGCCCCAGGTGATGATACCCAGGGAGGGATGGCATACTTGTTGTGTAGTGAGGTCCCACTGTGAGTTGAAGAAATCCTCCTTGTCTTTGGTAAAGACAGGTACATCATACTCCTGGGCCACCGGAGGGTCTGGCCGCTGCTCAATCACCTTCAAGTGGATGGTGTTGGACTCATCTGCAGGGGGCCCCATCCATATCCTCAGTGCCACTTCTTCCAAGAGGTCCTCAATTACCATCCAGGCCTCCCAGCATCCCTTGGGGCAAGCAGGTGCCTCTGGGTAGGGCTAATCTTTCTCTTTTTATGGAGTGAGAAACGGAGGCCCACAAAGGGGAAGGAATTGCCCAAGGGGCAGAGCTGGAGAGCTCTGCTTTCCCCCTACCCCCAGTCCCAGCTCCATCATGCATTGGACCCTGGACATGGGCACCTCAGCCCATGGCTATTTCCTGCCCACCAATGTGTTCATGAGTCTTGCCCTTCTCCCTGACTAGCTGGGTTCACTTTCCCATCTCTCCTCTACCCCTCTGCTGTCCTTGCAGAGGCTGGCCATACCAATGGGCAGAGTGCACCGGCCTGAGGCATTTAGCTCCTCCAGCAAGATGGTCATGATGGGCACCAACTTCTGCTTGCTCTCCTCCATGGACACGAAGCTGCTCTCTAGCTAGACAGAGCATGGAAAGCATGGTGGGCACATCCCAGGACCCCTGGCTGGTTGGCTGCCCTGAGTCCTGAGCTGGTTTGCAGGGTCCCAGGTTTGGGGGACTTTGGAGACATGGGAACACCTTCCCCAACTCTGCCTGTCGGTAAACCCAAGCCCATCTCATTGCAGACCTCTAGTGTGGTCAGATAGCCAGCCAGCTTTTTAACAATGGGCTCGAGGGCGCAGGTCTTGGCCTGGGCATCACACACGAAGCCCAGGTTGAAGAGGAGAGCATTGCGGCTGTACTTCTTGTGTTCGATGCACACAGGACAGCCGATCAGCTTCTTTTCCATAGCTGTGCTGGATAATTGGAACACAGTCAGGCCCCCAAGCCTGTCCCTTCCTCCTCCTGGGACAACCCCTGCCACCCACCGCTCACCCCGAGCTAGGGTCTCACACAGTGATAAGCTTGTTCTGCAGCTCTGGCTTGGTGATGATGTACACTTGGACTGTGTCAAACAGCTCTCGGGAGATGAAGTCTTCAGGGACCTGGGGAGGGGAGTGGCAATGGGCCCCTCAGTGGACATCTGTACTGGGTGTAGTACAAATGGTGACCTCCTCATGCCCCCCAAGCCCAAGTCCTCTTCTCCAGCGTTCCCCTCTCTCCCATCCACTCAGGCCTATTACTTCTTTCTGTTTCCAAACATACGCTATGATCTCACCTCCTTCCTGGCTTCTGCATATGCTGTTCCCTCTACCTGGAACACTTTCTCCTGCCTTACCTAAACTTCCTATGCATCATTTACTCTTCACTCAGTTCAGGGATACTCATGGGTCACCCAACTCACCTTCTGTGGGACCTGGAACCCCCCAACCGGATCCCTACAGCCCGATATCCTACAAACACTGCCAATGTGACGTATGTCTTCCCTGCCACATTGGGAGCCGGGGGCCTGGGTCTGACTATCCTCTAGCCTCACAGTTGTCTGCGAATGAAGCAGCATGCCTGCGTGCAGCACGGGAAACTACTGCCTTCAGGCAGCCAGTTGAGCTCTCGAGAACGTCCCTCTTCCCGCCCAGTCCCGCGAGCCCGGGTGGCACCTGATAGGTGATCTTGGGTCGAGCGTGGGGTGGAACTCGCTGAAGAATATGCATTCGATGCGGCAGCCGCTGCCCATGGCAATAACCGGGCCCAGGCCCGTAGCTCCTCGTTCCTCGCGCAGAGGCGTCCCCACCTCCTGTGAACACTTGTCAGAGACAGCCTCGAGGCCTGTGTCGCTGGGGCACGCAAGCTTGCCAATCCCTCTGCCCAATGGCGCCTGCGCAGCGCGACTCAGAGGCGTGGCTGGGGCGGGGGACGGCTCGTCCCAGGAAGTCCTGGGTGGGTAGACGTCGCACCCGGAAGTAAAGCGGCTCCGTGACGGAGCGGCGGTGCGCGCGGCAGGGCCCGGAGTATCCCGCTTTCTTTGGAGGAAACCACCGCATCAGATCTGCGCTGCGGCAGAGGCAGGCAAGTCCCTAGCGTGGAGGGGCAGCATGCTGGCAGCACTTGGGGAGGCGGTGCGCTAAGGGATTCACGCTGTAACTGGGACCGCAGCAGGGAACTACAATTTCCATAGTGCTCCGCGCCCTCCCAGCTGGCTCTACTGCCGGCGACGGCGTGGTACACGCTGGGATTTGTAGTCTTACATGGCTTTGCGCCTCCTACCTGGAAGGCGGGCCAGCGATTGGTACCAGTTCAGACATGGGTACACGTTGACAGGCCGCCGGCCGTCGACTGGCATGTTGTGACCATTCCTGGTGCTGGTCTTGGTACTGTTCTTTCCTACCATAACTTATTGGAAGAGGGTGGCATTCCTGCCTTGCAGCCTTTTCTCCAGTGAGGAGTGAACAGTGGGCACCTGAGATCCTGGCCCACGCTACTATGCTTTCAGGCTACAACCACTAGCACGGCTGACGATGGCCCTTTCTGCGGAGACCGAGTCACACATCTACCGAGCTCTGCGTACTGCTTCTGGCGCTGCCGCCCACCTTGTGGCCCTGGGCTTTACCATCTTTGTGGCTGTGCTTGCCAGGCCTGGCTCCAGTAAGTAGAATTCATAGCTGACTTCTGGGAAGGGAAGGGCCACTGTTCCTGGGGAGGAAGGGCAGTGGGACTTCCGGGAACAGGCCTGGCTGGTTGAGGGAATTCTGTGCTGGAGCGATGAGTGAGGTGGAGCAGGTAGGTATGGCCAGGGCACACAGAATTCCTGGTTTGTCTTTCCTTCTCTGGGTGCTCCATTTGGCTGCCTCTCAGGAGGTGTAAGGGAAGGAGGGAGGACTGCCAGAGGAGTGGCAAAGCATGGCCTCTGATCCAGGAAGAGGCCAGGAAGAGAGGATAGGTGTGGGGTCAGCTTGTTGCAGAGCAAGAAGGGGCTCACAGTTTGGCAGCACCTCCTTGGGTGATGGGCTGCTGGTATTCCTCAACCCTTAAGGATTGGTATGGCTGGTTTCTTCTTGCCTCAGCCCCATGAGGCCTCCTCTTCTCATTCCAGGCCTGTTCTCCTGGCACCCGGTGCTTATGTCTTTGGCTGTAAGTAGTGGGCCTGGGCAGTTCTTAGGGGTGGGAGCATGGGCATGGTTGGTGGCCCTGGCAGCCTCTGAATCTTTGTCCACATTTAATATCTGTTTGGAAGAGTTGCATGCTCCAACTACTCCTGCCCATGGTATATATTTCAGACTTGAGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTAGAGGCCGAGGCGGGCACATCACCTGAGGTCAGGAGATCGAGACCATCTTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCATGAACCCAGGAGACGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCTAACCTCTAACCTAGGCGACAGAGCGAGGCTCTGTCCCAAAAAAAAAAAAAAACCCAAAAACAAAAAAACCCCCCAAAAAACCAAAAATTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGTTACTCAGGAGCCTGAGGCAGGAGAATTGCTTGAACCCGGAAGGCGGAGATTGCAGTGAGCCGAGATCAGN
pathogenic
68,851
Clinical classification of chromosome 3, position 50375941, gene CACNA2D2 (calcium voltage-gated channel auxiliary subunit alpha2delta 2): benign or pathogenic? Disease(s) if pathogenic?
benign
ATGGGAAGGGGGCACCACAGGGGTAGAGAGCTGAACAGGAAGAGAGAGGAAAGAGGGGAGGGGAGGGAGAAAGAGGGGAGGGGAAGGGAAAAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAAGGACTGGAGGGAGAGGAGGGGAGGGGAAAGAGGGGGAGGAGAAGGGGAGGAAGGGAGAGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGAGGTGGGATTGGGGAGGAGGTAAGGGGAAGGAGGAAGGAATTGAAGGGAGGGGGAATAGGTGAAGGGAAGGGAGAGGAGGTGGAGGGAGGAAAGGGGAGGGGGGAAGGTGAGGGGAGGGGGGATGGTGAGGGTGGGGGGAAGGGGAGGGGGAAGGAAAAGGGGAAAGGGAAGGGGAGGGGAAAGGGGAGAGGAGAGGGACAGGAGGAGGGGGAGGAGAAAGGGGAGGGTAGGGGGAGGAGGAGGGGGAAGGGGAGGGGAGGGGAAGGGGAGTGGAGGTGGGTGGGGAGGGGAGGGGGAAGGTAAGGGGAGGGGGTGTCTTCCAAGAATGCAGCCCCCAGGAGTGTGTGGGGCAGGCAGGCTAAGGAGGGAAGACACGGAGTAGGAGAAACCAAAAACAGCAACCTCAACAGAAACCATGAAAGAATGGTCTGGAACCGAATCTGAGAAAAGGCAAGCATGCAGATTTCCACAGACTTTCGAGGTGCCCCAGCCTGCGGGCACCTGAGGGTGGGCAGACTGGGCAGGAGGGACTGCCTCGCCGGCAAGCGGCGCTGGCTATGCTGCCTGGGGCCGGCCAGGGTGCGGGGCAGAGGCAGGGTGCAGGGCGCAGGCAGGGGCCGGGCCACTTACACTTGACCTGCAGGATCTGGTCACTGAGATTGGCTTGGAGGTAGAAGGTGCTGTAGGGTGGGAGCACCAGCCCCAGGCTGAGGGGGGAGAAGCTCGGGTCACGGCTGGGGGGAGGCGGGCCACACTGGCACCCCCTCCCCATGGCCTTGGAGCTGGGCAGAGGCCCCAGCTGCAGCATCCCCTCCTCCCACCACCAGGGACCCCTCTCCCCGCTTAGCTGCAGGAGGTTCATGGTCTAGGGGCCGGCACCCTGGAGGCTCTCCACTTCTCAAACTCTCCTGGGGGCCACCGGGCAACCAGCCCCAAAGCAAATCCCCACACCATCTCCCCTCCCAGCAGCCTCTCACAACAGCCCCCTGCCCAGCCAACCTCCCTCTGACCCACAAGGGGCAGACGCTGCCGTGAGCTGGCTGCAATGCCAGTGTTGCCGTGGGAGTGGGGTCACCAGCCCCCAGATACTCAAAGCCAGCAGAAAGCAGGGCTGGCGCAGATATGGTGGGGGCAGGGGGTGGCAGTTGTGGGCTGGCATGGGCTGTGAGGATGCCCCGGCATTTCAGGATGGACTAGCTGTGTGGGGCAGGCAGAGGTCAGCCTGCACTGACCCAGCCTGACACACAAGGGACCTCCTCTGCCCTGAGACTGTGAGGCAGGCTGACAGCATGCCAAGGGCAGTATCCTGGGATGAGGAGACTTTGGATGACTGTGCTGTGCTCTCAGACCTGCTGCTTGTTCCTTAAAAGCCAGGGAGTCTCTTGGCAGACTAAGCATCTCAGGGTGAGTAGTGAGCAGCCCTGGCCACTGGTGCCCCACTGGGATGGTGGTCACAGTGGGAGAGGGAGGGGACAGCTGGGCTCAGATTCTGGGGCCACCCCACCCTCTCTGCCCGCCCAGCCCTGGCCTCACTTACCTGTAGTTAGTGCTCCTTATAGGCACCCAGGTGTAGTTCCGTGTCACCTCATCTATGTACCTCTGGGAGAGGAGGCTGGGTCAGGTACTTGGGCTAGCAGGCAGGGGGCGCTGGGGTAGAAGGGTGCCCACCCTGACTCCCTGGCCCCCAGCCCTGCCTCCTTACCTCATCCAGGGACTTGACCAACGTTCTGATCTGCTTGTGGCCCTTGTTGCCATCAATCATGCTCCGACGGATCTGGAAGGGCCAGAGATGTGAGGGGCAGGGCCCCTACACTCCTCTGCTCTGTCCCCCACCCCTGTTCTCCTCCTCTCCTTACCTCTTCCTTGTTCTCATCCTCTAGCTCCGCATCCAGGAAGTCCAGAGTCACAGGCTCCCGGAAGTTGGTGGTCTGTTGGAGGCAGGGTGGGAAGTCAGAAGTCCCCATTGTGGAAGGTTTGCCCACCCTCCAGGCCACCCGTCTGGCTCACCTGGGGCTTGAGATTGGGGTGCAGCAACACGTAGCCGTTCAGGTCAATGGCAAACACATAGCCGTTGGCTCCAAGCTGGAGGCACAGATTGGGGGCTCAGGGTCTGGAGGGATGGGCTGGGGTTCCCTGGGCTCCGGAGTTCTTCCCTATTTGGCCTCCCACCGCACCGAGAGATTCTGTTTGCCTGCCTTGGGCTAAGGGCCCCCCCATGCCACGTGGCCCTAAGCCTGTCTCTCCAGCCAGGCCCGCAGGCGGGTTGCCCCTTGTGCACCAGCCCTTGCCAAGGCTAACCGGCGTGTGGGCTGCTGCTCTGCAGTCCTCATCCTCTCCCCCTGGTTCTCATGAGCTGTCAGTTGTCCTGACCTCTCTGCCACCACCGGCCCCACAGGTCTGCTGCTTCTGTACCCCTGTGGCCCTCCTCTAGCCACTACTGCCCCTGATTTGTGCCTCCTCCTTGTCCCCACGTCAAGAGAGAGCAGCGGGACGAGTGGACCCTTCGGAATCCTACCTGGGGCTTCCCTTCCAGGTGGAAGGGAAGTAGGAGTAAGTGGGACCTGGACCTAGCCCTTACCTCCCCCAGTCAGTTTCTTACTGTACCTGGAGGCCAACTGCCACAGCCCCTGCCCACTCAGGGCCAAGCAGAGGCTTCAGGGGGGCTCAGGCTTAATGATGCTGTTGTACATACCACACCTCTCCCCCTTCCACAGGCCAAGATGCAGACTCCCTGACCGCAGGCGCTGGGCCAGCCACAATGCCATCTTGCCCCTACCCTGGTTTATGATTGTTTTTCACCTTTGGGCCCTTGGCCAGAGAATTCCCTCTGCCTCCAATGTACGCCATCCCCTCCTTTCCTTTCTGCCTGGGACACTCCTGCCTATGTGCATGGGCCAGGTCTGGCCTGCTGCCCATTACTATGTGGCCATGAGCTAAGAATGGTTTTATGTTTTTAAATGGCTGGAAAAAACATCAAAGGAAGAATTCTATTTTGTGACATGTGAAAATTATCTGAAATTCAAATATCAGTATCCACAAATAAAATTAAATTGGAACATAGCCATGCCCATTGTTTATGTTTTGTTTGTGGCTGCTTTCACAATACAACAGTGCAACCGAGTAAGAGATGGGTATGTAGGTCTGCAAAGCCTAAAATATTCAGTCTGGCCCTTTACAGAAAGTTTGCCAACCCAAGGTCACCTTGTTCTAGACCCAAGGTCACCTCCTGGGGAAGCCTTCCCCGACCCCTGAACTCAGAGGTCTCCATGGAGGCGCTGTAATACCCATCAGTCTTCTCTGCTGAGCCTGCCTGTGTCCACATGGGAGGCAGGGTACGCGGATGGGCAGGGGGATGCTCACCGTGTAGTTGGGGGTCAGCCTCTTGATGTCATTCAGAGCCACGTCAATGCCCATCACGCCCAGGATCAGCTGGTTCTGGGAGCAGAAGCATGGGGGGCTCCTCAGTGAGCTCAATTCCATGGGGAACCACCCTCCACAAGGCCTCAAGCTGCTCTCACAGGCAGTGTGCAGGCCTGCCCTGCCCCTCTTCCACCCTCAGACCTGCTGTGGGCATGCCCATTCCTCCCCAGGCACACCCATAGCCCCAACCCTCCCCTTTCCTCACCTTCTTTTCCCCAGGGCCATCCTGTGTCAGGTTGAAAACAGGGAGGGTCCCTGTTACCACCAACCCCAGTCCCTGAAGGGAGAGGAAGATGATGGAGTCACCTGTGGCCAGCACTGACCCCACCCTGAGTGTTCAGAGCAGGGACTGAGGTGCAGGCCACCTCTTTCTCCTGTGCTTGGTTTACCCCATAAGGGGGCCCTCCAGGGTCTTGACCCTGTGGGCACATCTCCGGGGGAAGGGTGCCAGCCCCACCCCTT
ATGGGAAGGGGGCACCACAGGGGTAGAGAGCTGAACAGGAAGAGAGAGGAAAGAGGGGAGGGGAGGGAGAAAGAGGGGAGGGGAAGGGAAAAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAAGGACTGGAGGGAGAGGAGGGGAGGGGAAAGAGGGGGAGGAGAAGGGGAGGAAGGGAGAGGGAGGAGGGGAGGGGGAGGAGGAGAGGGGAGGTGGGATTGGGGAGGAGGTAAGGGGAAGGAGGAAGGAATTGAAGGGAGGGGGAATAGGTGAAGGGAAGGGAGAGGAGGTGGAGGGAGGAAAGGGGAGGGGGGAAGGTGAGGGGAGGGGGGATGGTGAGGGTGGGGGGAAGGGGAGGGGGAAGGAAAAGGGGAAAGGGAAGGGGAGGGGAAAGGGGAGAGGAGAGGGACAGGAGGAGGGGGAGGAGAAAGGGGAGGGTAGGGGGAGGAGGAGGGGGAAGGGGAGGGGAGGGGAAGGGGAGTGGAGGTGGGTGGGGAGGGGAGGGGGAAGGTAAGGGGAGGGGGTGTCTTCCAAGAATGCAGCCCCCAGGAGTGTGTGGGGCAGGCAGGCTAAGGAGGGAAGACACGGAGTAGGAGAAACCAAAAACAGCAACCTCAACAGAAACCATGAAAGAATGGTCTGGAACCGAATCTGAGAAAAGGCAAGCATGCAGATTTCCACAGACTTTCGAGGTGCCCCAGCCTGCGGGCACCTGAGGGTGGGCAGACTGGGCAGGAGGGACTGCCTCGCCGGCAAGCGGCGCTGGCTATGCTGCCTGGGGCCGGCCAGGGTGCGGGGCAGAGGCAGGGTGCAGGGCGCAGGCAGGGGCCGGGCCACTTACACTTGACCTGCAGGATCTGGTCACTGAGATTGGCTTGGAGGTAGAAGGTGCTGTAGGGTGGGAGCACCAGCCCCAGGCTGAGGGGGGAGAAGCTCGGGTCACGGCTGGGGGGAGGCGGGCCACACTGGCACCCCCTCCCCATGGCCTTGGAGCTGGGCAGAGGCCCCAGCTGCAGCATCCCCTCCTCCCACCACCAGGGACCCCTCTCCCCGCTTAGCTGCAGGAGGTTCATGGTCTAGGGGCCGGCACCCTGGAGGCTCTCCACTTCTCAAACTCTCCTGGGGGCCACCGGGCAACCAGCCCCAAAGCAAATCCCCACACCATCTCCCCTCCCAGCAGCCTCTCACAACAGCCCCCTGCCCAGCCAACCTCCCTCTGACCCACAAGGGGCAGACGCTGCCGTGAGCTGGCTGCAATGCCAGTGTTGCCGTGGGAGTGGGGTCACCAGCCCCCAGATACTCAAAGCCAGCAGAAAGCAGGGCTGGCGCAGATATGGTGGGGGCAGGGGGTGGCAGTTGTGGGCTGGCATGGGCTGTGAGGATGCCCCGGCATTTCAGGATGGACTAGCTGTGTGGGGCAGGCAGAGGTCAGCCTGCACTGACCCAGCCTGACACACAAGGGACCTCCTCTGCCCTGAGACTGTGAGGCAGGCTGACAGCATGCCAAGGGCAGTATCCTGGGATGAGGAGACTTTGGATGACTGTGCTGTGCTCTCAGACCTGCTGCTTGTTCCTTAAAAGCCAGGGAGTCTCTTGGCAGACTAAGCATCTCAGGGTGAGTAGTGAGCAGCCCTGGCCACTGGTGCCCCACTGGGATGGTGGTCACAGTGGGAGAGGGAGGGGACAGCTGGGCTCAGATTCTGGGGCCACCCCACCCTCTCTGCCCGCCCAGCCCTGGCCTCACTTACCTGTAGTTAGTGCTCCTTATAGGCACCCAGGTGTAGTTCCGTGTCACCTCATCTATGTACCTCTGGGAGAGGAGGCTGGGTCAGGTACTTGGGCTAGCAGGCAGGGGGCGCTGGGGTAGAAGGGTGCCCACCCTGACTCCCTGGCCCCCAGCCCTGCCTCCTTACCTCATCCAGGGACTTGACCAACGTTCTGATCTGCTTGTGGCCCTTGTTGCCATCAATCATGCTCCGACGGATCTGGAAGGGCCAGAGATGTGAGGGGCAGGGCCCCTACACTCCTCTGCTCTGTCCCCCACCCGTTCTCCTCCTCTCCTTACCTCTTCCTTGTTCTCATCCTCTAGCTCCGCATCCAGGAAGTCCAGAGTCACAGGCTCCCGGAAGTTGGTGGTCTGTTGGAGGCAGGGTGGGAAGTCAGAAGTCCCCATTGTGGAAGGTTTGCCCACCCTCCAGGCCACCCGTCTGGCTCACCTGGGGCTTGAGATTGGGGTGCAGCAACACGTAGCCGTTCAGGTCAATGGCAAACACATAGCCGTTGGCTCCAAGCTGGAGGCACAGATTGGGGGCTCAGGGTCTGGAGGGATGGGCTGGGGTTCCCTGGGCTCCGGAGTTCTTCCCTATTTGGCCTCCCACCGCACCGAGAGATTCTGTTTGCCTGCCTTGGGCTAAGGGCCCCCCCATGCCACGTGGCCCTAAGCCTGTCTCTCCAGCCAGGCCCGCAGGCGGGTTGCCCCTTGTGCACCAGCCCTTGCCAAGGCTAACCGGCGTGTGGGCTGCTGCTCTGCAGTCCTCATCCTCTCCCCCTGGTTCTCATGAGCTGTCAGTTGTCCTGACCTCTCTGCCACCACCGGCCCCACAGGTCTGCTGCTTCTGTACCCCTGTGGCCCTCCTCTAGCCACTACTGCCCCTGATTTGTGCCTCCTCCTTGTCCCCACGTCAAGAGAGAGCAGCGGGACGAGTGGACCCTTCGGAATCCTACCTGGGGCTTCCCTTCCAGGTGGAAGGGAAGTAGGAGTAAGTGGGACCTGGACCTAGCCCTTACCTCCCCCAGTCAGTTTCTTACTGTACCTGGAGGCCAACTGCCACAGCCCCTGCCCACTCAGGGCCAAGCAGAGGCTTCAGGGGGGCTCAGGCTTAATGATGCTGTTGTACATACCACACCTCTCCCCCTTCCACAGGCCAAGATGCAGACTCCCTGACCGCAGGCGCTGGGCCAGCCACAATGCCATCTTGCCCCTACCCTGGTTTATGATTGTTTTTCACCTTTGGGCCCTTGGCCAGAGAATTCCCTCTGCCTCCAATGTACGCCATCCCCTCCTTTCCTTTCTGCCTGGGACACTCCTGCCTATGTGCATGGGCCAGGTCTGGCCTGCTGCCCATTACTATGTGGCCATGAGCTAAGAATGGTTTTATGTTTTTAAATGGCTGGAAAAAACATCAAAGGAAGAATTCTATTTTGTGACATGTGAAAATTATCTGAAATTCAAATATCAGTATCCACAAATAAAATTAAATTGGAACATAGCCATGCCCATTGTTTATGTTTTGTTTGTGGCTGCTTTCACAATACAACAGTGCAACCGAGTAAGAGATGGGTATGTAGGTCTGCAAAGCCTAAAATATTCAGTCTGGCCCTTTACAGAAAGTTTGCCAACCCAAGGTCACCTTGTTCTAGACCCAAGGTCACCTCCTGGGGAAGCCTTCCCCGACCCCTGAACTCAGAGGTCTCCATGGAGGCGCTGTAATACCCATCAGTCTTCTCTGCTGAGCCTGCCTGTGTCCACATGGGAGGCAGGGTACGCGGATGGGCAGGGGGATGCTCACCGTGTAGTTGGGGGTCAGCCTCTTGATGTCATTCAGAGCCACGTCAATGCCCATCACGCCCAGGATCAGCTGGTTCTGGGAGCAGAAGCATGGGGGGCTCCTCAGTGAGCTCAATTCCATGGGGAACCACCCTCCACAAGGCCTCAAGCTGCTCTCACAGGCAGTGTGCAGGCCTGCCCTGCCCCTCTTCCACCCTCAGACCTGCTGTGGGCATGCCCATTCCTCCCCAGGCACACCCATAGCCCCAACCCTCCCCTTTCCTCACCTTCTTTTCCCCAGGGCCATCCTGTGTCAGGTTGAAAACAGGGAGGGTCCCTGTTACCACCAACCCCAGTCCCTGAAGGGAGAGGAAGATGATGGAGTCACCTGTGGCCAGCACTGACCCCACCCTGAGTGTTCAGAGCAGGGACTGAGGTGCAGGCCACCTCTTTCTCCTGTGCTTGGTTTACCCCATAAGGGGGCCCTCCAGGGTCTTGACCCTGTGGGCACATCTCCGGGGGAAGGGTGCCAGCCCCACCCCTTNN
benign
68,872
Is the genetic mutation found on chromosome 3 at position 51986652, within the gene ACY1, considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['ACY1-related_disorder', 'Aminoacylase_1_deficiency']
CAGGAGTTCAAGACTAGCTTGAGCAACATGGCAAGACTCTGTCTCTACAGAAAAAATACAAAAATTAGTCAGGAATGGTGGCACACCTGTAGTCCCAGCTACTCCAGAGGTTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGAGATCGCACCACTTCACTCCTGCCTTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAAAAAAAACTTAGTGGCTGGGAATTGTGTACATGGGTCCAAATTCCTCCTCTGTGATTAATCAGCTGAGAGATGGTGGGTGAATCTCTTCATGTCTCTGTGCCATAGTTTCCCATATTTAAGGAAGATAACACCTTCCTCCAACCCTGTGTCCAGACATCCCCCTGGACTTCCAGAAAGGGTCACTGAGTAGCCAAAAATATCTTCTTTCTTGGGGATGGAAATGCAAGCATCTCTGAGGGATATGGAGTGTGTCGGGGAGGCAGCAGCCCATTTCTGGGTATGCTCCACTCTCCGGGCTGCCTGGGCTGGTGGGAAGCTGTGGGTAGGCAGAAGCAGCCCCAAGACACTCTGTGCCTCCAGGAGCTGCTGTGGCTTTCTTTGAGGAGACAGCCCGCCAGCTGGGCCTGGGCTGTCAGAAAGTAGAGGTGAGCCTGGGGCCCTAAGCGGGGAAGGGAGGTGGGCCTGGGCACTTCCTCACCCTGCTCAGACCACCTACCCTCCTGACCATCTCCAGGTGGCACCTGGCTATGTGGTGACCGTGTTGACCTGGCCAGGCACCAACCCTACACTCTCCTCCATCTTGCTCAACTCCCACACGGATGTGGTGCCTGTCTTCAAGGTGTGTAAGGGGCTGGGGAGGTGGGCAGTGCAGGCCTTGGGGACAGACATGATGCAGACCCCAGGATTCAACCTCAAGTTGCTCATGGTCCTGGCCCCAGTCCTGACACTAACTCTCAACATCCTTATGACATTACACCACTCAAGCAGCCTTCATCCAGCAGCAAGTTCTGGGCCAGAGTGGGGTGGGGACTGGGGGGTGGGAAGCAGGAGACAGCAATGGGGGATGGCAATCAGCTGCCTTCTTCAGCCCCCGTCTTTCCTCTCCCACCACTCCACCTGTCACTCCAACCCTATGGTGGGCTCCTAGGGCAGGGCCACTGTTGACCAGAGTGGATTAATGGCTAAATTTGGGGTTTGGGCCCCTCTTCCCATCCCTGCCCCCAGGAACATTGGAGTCACGACCCCTTTGAGGCCTTCAAGGATTCTGAGGGCTACATCTATGCCAGGGGTGCCCAGGACATGAAGTGCGTCAGCATCCAGTGAGTGTCCTCCATTCCTACTCCTCCACAATGTCCCCACTGGTCCAGTGGATTGAAGCAGGACCTGAGGGGGTGATTGGAGAAACTCAAGGCCAAGGAACACCGTGACCTCTTGGACAGGAACTACTGCCATGACCATTGCATGGATAGGGAGATTCAGACCAGAGAGGGGCAGGGACTTTCTGGAGTCCCTATCAGGGTGTGGCAGGGTAAAGTCCAGGACACAGGACTCCAGCCTGCTGGCCCTGCCTGTGGGGCCAGCCTGCGCATCTGGTGGCTCCCCCAGCACCTGGCTTATGCCCCCTCAGGTACCTGGAAGCTGTGAGGAGGCTGAAGGTGGAGGGCCACCGGTTCCCCAGAACCATCCACATGACCTTTGTGCCTGGTAGGAGTGGCTCAGATACCTTTGGGAAAGGGGAGGGTGGGGCGGGGCAGCCTCCTCATCTCACGTCCCTGCTGCTTTTACAGATGAGGAGGTTGGGGGTCACCAAGGCATGGAGCTGTTCGTGCAGCGGCCTGAGTTCCACGCCCTGAGGGCAGGCTTTGCCCTGGATGAGGGTGAGCAGGTTGGCAAGCCAATGAGCAGCCAGGCAGGGAGTAGGAGGCTGCTAGTGGGGACTGAGCTGCTCCACCCTCTGAACCCCCTTTCCCTCCTCAGGCATAGCCAATCCCACTGATGCCTTCACTGTCTTTTATAGTGAGCGGAGTCCCTGGTGTAAGTATGAGCTTGGAGGGAGGGCTCACTCTACAGGCGGGAGGCTAGGCCAGAAAGGGCACGGTCCTATGCAGGGTTGCACAGCAAAGTTGAGGCCTGAGAAGGCCTTGAACCCAGGGCCTCTACCTCCCAGCTCTTTCCTATCTGAGCTTCTCTGAGGGCAAGCCCTGAATGGGCAGAAACCAGCTGTATGCTACGGGCCCTGAGTGGGGACAGGACCCTGCCAGAGGAGCCTGGAATGAGGGGGAGACCTGGGCCCACCCCAGGCTGATTGTGTCTCCAGCCCCTCAGGCTGAAGACACTGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGGCCAGGCCATGCCTCACGCTTCATGGAGGACACAGCAGCAGAGAAGCTGGTACGTGGCACCCCAGGAGGGAGTCTGGGAGTTCAGGAGGCTCTATCCTGAGGCCACTGTCCCATTTAACCTCATATTCTCATAGCACAAGGTTGTAAACTCCATCCTGGCATTCCGGGAGAAGGAATGGCAGAGGTGAGGCAGCCTGGGAGGCAGTGGGGTGGCTCTGGGAGGCGGTACCACAGAGGATAGAGTCTGAGCCACCTCTTTTATCTGTTGCTGCCGCTACCCTGCCCCCACACCACAGGCTGCAGTCAAACCCCCACCTGAAAGAGGGGTCCGTGACCTCCGTGAACCTGACTAAGCTAGAGGGTGGCGTGGCCTATAACGTGATACCTGCCACCATGAGCGCCAGCTTTGACTTCCGTGTGGCACCGGATGTGGACTTCAAGGTGCCACCTCCACCTGGGTTTGGAGGAGGGATCCTGGGTCCTCAGTCTTGTCCTAGAGGCCTCTGGAAAGCCTGAAGGATCAGCTCGTCTCCCTTCTCTTAGGCTTTTGAGGAGCAGCTGCAGAGCTGGTGCCAGGCAGCTGGCGAGGGGGTCACCCTAGAGTTTGCTCAGGTATGGACTTGGGACATGTGATGGGAGAGTGTGGGAGCCGGGGGAGACCCAAGTGTGCAACAGTGGAGTGTGTGCTTGGTGTGTCTGCATATGTCTGGGCATTTCTTTATCTGTGACAGACACATTTTATTCCAACAAGCATTCATTGTAGAGGCCACTGTGGGTGCTGGGGAATGCTGTGGGGAGTAAAATTAGGCACAGTTCATGCCCTTGTATGGTGAAACGGGGAGATATAAATCAAACATTTATGTGATATTACTTTTTTCTGAGAGAATCTCACTCCGTCACCCAGGCTGCAGTGCAGTGGCACAATCTCGGCTCACCTCCGCCTCCCGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCAGAGTAGTTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCGCAAAATGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCGTACTTTCATATAACCCATGTGGTACAGGAAAGGGTGGCCCCTTGCACTCTGAAAACCTGTAACTGGAGTATCCAACTAGTCTGAGAGGTCTGGGGGAGCCATCTTGAGGAAGGGGCACTTGGGCTAGGATCTGAAGGATGGACAGGAGGTAAGTAGACGGAGGGTGGGAAGGTCCCAGACCTAGGACATTTGAGGGGCTGAAAGAGGACCTGTGGCTGGACTGGCTACCCAGATGTCTGGGTAGGTGAAGGAGTGGGGGTGGGGAGGTGTTATGTACTAGGCACAGCCCACTCTATGGGAAATAGGGCAAGATGCCCAGGCCCATGTCCTGATCCTGCCATTCTTCCTGTCCCTCAGAAGTGGATGCACCCCCAAGTGACACCTACTGATGACTCAAACCCTTGGTGGGCAGCTTTTAGCCGGGTCTGCAAGGATATGTGAGCACGCTGGCCAGCTCTCCTCACAGCCCAGCCCCCTACTCCTCTCCTTCCTGCTGCCCCCTCCCTTCTCCCTCCTTCTCCCACCTCTTTCCC
CAGGAGTTCAAGACTAGCTTGAGCAACATGGCAAGACTCTGTCTCTACAGAAAAAATACAAAAATTAGTCAGGAATGGTGGCACACCTGTAGTCCCAGCTACTCCAGAGGTTGAGGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCGAGATCGCACCACTTCACTCCTGCCTTGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAGGAAAAGAAAAAAAAAAAACTTAGTGGCTGGGAATTGTGTACATGGGTCCAAATTCCTCCTCTGTGATTAATCAGCTGAGAGATGGTGGGTGAATCTCTTCATGTCTCTGTGCCATAGTTTCCCATATTTAAGGAAGATAACACCTTCCTCCAACCCTGTGTCCAGACATCCCCCTGGACTTCCAGAAAGGGTCACTGAGTAGCCAAAAATATCTTCTTTCTTGGGGATGGAAATGCAAGCATCTCTGAGGGATATGGAGTGTGTCGGGGAGGCAGCAGCCCATTTCTGGGTATGCTCCACTCTCCGGGCTGCCTGGGCTGGTGGGAAGCTGTGGGTAGGCAGAAGCAGCCCCAAGACACTCTGTGCCTCCAGGAGCTGCTGTGGCTTTCTTTGAGGAGACAGCCCGCCAGCTGGGCCTGGGCTGTCAGAAAGTAGAGGTGAGCCTGGGGCCCTAAGCGGGGAAGGGAGGTGGGCCTGGGCACTTCCTCACCCTGCTCAGACCACCTACCCTCCTGACCATCTCCAGGTGGCACCTGGCTATGTGGTGACCGTGTTGACCTGGCCAGGCACCAACCCTACACTCTCCTCCATCTTGCTCAACTCCCACACGGATGTGGTGCCTGTCTTCAAGGTGTGTAAGGGGCTGGGGAGGTGGGCAGTGCAGGCCTTGGGGACAGACATGATGCAGACCCCAGGATTCAACCTCAAGTTGCTCATGGTCCTGGCCCCAGTCCTGACACTAACTCTCAACATCCTTATGACATTACACCACTCAAGCAGCCTTCATCCAGCAGCAAGTTCTGGGCCAGAGTGGGGTGGGGACTGGGGGGTGGGAAGCAGGAGACAGCAATGGGGGATGGCAATCAGCTGCCTTCTTCAGCCCCCGTCTTTCCTCTCCCACCACTCCACCTGTCACTCCAACCCTATGGTGGGCTCCTAGGGCAGGGCCACTGTTGACCAGAGTGGATTAATGGCTAAATTTGGGGTTTGGGCCCCTCTTCCCATCCCTGCCCCCAGGAACATTGGAGTCACGACCCCTTTGAGGCCTTCAAGGATTCTGAGGGCTACATCTATGCCAGGGGTGCCCAGGACATGAAGTGCGTCAGCATCCAGTGAGTGTCCTCCATTCCTACTCCTCCACAATGTCCCCACTGGTCCAGTGGATTGAAGCAGGACCTGAGGGGGTGATTGGAGAAACTCAAGGCCAAGGAACACCGTGACCTCTTGGACAGGAACTACTGCCATGACCATTGCATGGATAGGGAGATTCAGACCAGAGAGGGGCAGGGACTTTCTGGAGTCCCTATCAGGGTGTGGCAGGGTAAAGTCCAGGACACAGGACTCCAGCCTGCTGGCCCTGCCTGTGGGGCCAGCCTGCGCATCTGGTGGCTCCCCCAGCACCTGGCTTATGCCCCCTCAGGTACCTGGAAGCTGTGAGGAGGCTGAAGGTGGAGGGCCACCGGTTCCCCAGAACCATCCACATGACCTTTGTGCCTGGTAGGAGTGGCTCAGATACCTTTGGGAAAGGGGAGGGTGGGGCGGGGCAGCCTCCTCATCTCACGTCCCTGCTGCTTTTACAGATGAGGAGGTTGGGGGTCACCAAGGCATGGAGCTGTTCGTGCAGCGGCCTGAGTTCCACGCCCTGAGGGCAGGCTTTGCCCTGGATGAGGGTGAGCAGGTTGGCAAGCCAATGAGCAGCCAGGCAGGGAGTAGGAGGCTGCTAGTGGGGACTGAGCTGCTCCACCCTCTGAACCCCCTTTCCCTCCTCAGGCATAGCCAATCCCACTGATGCCTTCACTGTCTTTTATAGTGAGCGGAGGTCCCTGGTGTAAGTATGAGCTTGGAGGGAGGGCTCACTCTACAGGCGGGAGGCTAGGCCAGAAAGGGCACGGTCCTATGCAGGGTTGCACAGCAAAGTTGAGGCCTGAGAAGGCCTTGAACCCAGGGCCTCTACCTCCCAGCTCTTTCCTATCTGAGCTTCTCTGAGGGCAAGCCCTGAATGGGCAGAAACCAGCTGTATGCTACGGGCCCTGAGTGGGGACAGGACCCTGCCAGAGGAGCCTGGAATGAGGGGGAGACCTGGGCCCACCCCAGGCTGATTGTGTCTCCAGCCCCTCAGGCTGAAGACACTGCCTTCCCCCTACACCTCCCCAGGGGTGCGGGTTACCAGCACTGGGAGGCCAGGCCATGCCTCACGCTTCATGGAGGACACAGCAGCAGAGAAGCTGGTACGTGGCACCCCAGGAGGGAGTCTGGGAGTTCAGGAGGCTCTATCCTGAGGCCACTGTCCCATTTAACCTCATATTCTCATAGCACAAGGTTGTAAACTCCATCCTGGCATTCCGGGAGAAGGAATGGCAGAGGTGAGGCAGCCTGGGAGGCAGTGGGGTGGCTCTGGGAGGCGGTACCACAGAGGATAGAGTCTGAGCCACCTCTTTTATCTGTTGCTGCCGCTACCCTGCCCCCACACCACAGGCTGCAGTCAAACCCCCACCTGAAAGAGGGGTCCGTGACCTCCGTGAACCTGACTAAGCTAGAGGGTGGCGTGGCCTATAACGTGATACCTGCCACCATGAGCGCCAGCTTTGACTTCCGTGTGGCACCGGATGTGGACTTCAAGGTGCCACCTCCACCTGGGTTTGGAGGAGGGATCCTGGGTCCTCAGTCTTGTCCTAGAGGCCTCTGGAAAGCCTGAAGGATCAGCTCGTCTCCCTTCTCTTAGGCTTTTGAGGAGCAGCTGCAGAGCTGGTGCCAGGCAGCTGGCGAGGGGGTCACCCTAGAGTTTGCTCAGGTATGGACTTGGGACATGTGATGGGAGAGTGTGGGAGCCGGGGGAGACCCAAGTGTGCAACAGTGGAGTGTGTGCTTGGTGTGTCTGCATATGTCTGGGCATTTCTTTATCTGTGACAGACACATTTTATTCCAACAAGCATTCATTGTAGAGGCCACTGTGGGTGCTGGGGAATGCTGTGGGGAGTAAAATTAGGCACAGTTCATGCCCTTGTATGGTGAAACGGGGAGATATAAATCAAACATTTATGTGATATTACTTTTTTCTGAGAGAATCTCACTCCGTCACCCAGGCTGCAGTGCAGTGGCACAATCTCGGCTCACCTCCGCCTCCCGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCAGAGTAGTTGGGATTACAGGCACCTGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGACAGTGTTTCACCATGTTGGCCAGGCTTGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCGCAAAATGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCGTACTTTCATATAACCCATGTGGTACAGGAAAGGGTGGCCCCTTGCACTCTGAAAACCTGTAACTGGAGTATCCAACTAGTCTGAGAGGTCTGGGGGAGCCATCTTGAGGAAGGGGCACTTGGGCTAGGATCTGAAGGATGGACAGGAGGTAAGTAGACGGAGGGTGGGAAGGTCCCAGACCTAGGACATTTGAGGGGCTGAAAGAGGACCTGTGGCTGGACTGGCTACCCAGATGTCTGGGTAGGTGAAGGAGTGGGGGTGGGGAGGTGTTATGTACTAGGCACAGCCCACTCTATGGGAAATAGGGCAAGATGCCCAGGCCCATGTCCTGATCCTGCCATTCTTCCTGTCCCTCAGAAGTGGATGCACCCCCAAGTGACACCTACTGATGACTCAAACCCTTGGTGGGCAGCTTTTAGCCGGGTCTGCAAGGATATGTGAGCACGCTGGCCAGCTCTCCTCACAGCCCAGCCCCCTACTCCTCTCCTTCCTGCTGCCCCCTCCCTTCTCCCTCCTTCTCCCACCTCTTTCC
pathogenic
68,921
For chromosome 3, position 52346755, gene DNAH1 (dynein axonemal heavy chain 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Spermatogenic_failure_18']
CACCTTCCCCTCCAGGATTGTCTGCCCTGCCATTGTGGGCGTCATCAGCCCAACACTCCCTGCACCTCCCCTGTCTCCAGCACTTGTCCCACTTCTCCCTGCTGCCTGGAGGGCTCTGGACCAGGGGAAGGGAAGAAGGCTCTTTTTGAACTTATTAGTGAGAATAGCACAGAAGTTGCAAGGTGAATGTGTACTAGGAAACAATGCTTCAGCAGTAGGTGGAAGGGGCTCTGCTGATCAGACCTAGAGGATAGTCCTTCTTCCTCCAGTAGCAAGAGAGGAGACCGAGTCTCAGAGCAGGACCCCGGGGCCCAAGAACCCTCCTTGCTTTCAGCTCACCTGCCAGCCTTCCTAGACTCAGCTTCCTGCATGTCATGTACTCCGGATGCAGGCTGGGGTGTGGACAGTGGGCATTCCAAGAGGTTCTGGTACCTACCCTTTCCTTCCTTGGTGCCCCAGGGCAGGCTGTGGACAGACCTTAAGCTTGTGTGCAGCACGGGCAGGAGTGGATGAGGAGAGGGTTCTTGGTTCTCATCTACTTCTCAGAGGAGCCTGTGACTAGGGGGTCCTGGAAGGAATTCCTTTACCCATCTCAGAGTAGGCACCTCACTGAAGAGCTTCAGTGCCACTCCGGCAAACTATGGAAAGGCGGGGCTCTGGGAACGCCAGTCACTCTTCAGGGAGAAGGCAGGAGTCATGGCCCTCCTTCAAGCACCCTGTGGATCTGTCCTGTCCCCTGGTTTGGCCAGGCAGGGTCTGATACTGGCCCTTGGCCCCTATCCCTGCAGGGCTGGTGAGTGTCCCCAAGTACCACTTCTGGGAGCAGAAGGAGGACTTCACTTTCGTGTCCCTGCTCACACGGCCAGAGGTCATCACGGCCCTCAGCAAGGTGAGGGCCGAGTGCAACAAGGTGACCGCCATGTCCCTGTTCCACTCGAGCCTCTCCAAGTACAGCCACCTGGAGGAATTTGAGCAGATCCAGTCACAGACCTTCTCCCAGGTTTGTGGGCATCAAGGGCACAGGGGGCAAACGCAGGGCAGACCCTTGGAACTGGCAGGCACAGGTCGGGGCTGCAGCGGAAGGCCAGGGTCAGTGGGCCACATGGTGAGGCTGTGAGCCCCTGCTTTTCTCAAAACCTGGCCTCAGCCTCTTCCTAGACCTTATTGGAGGCTGGGGTGGGGACCAAGGGTAATGACTCATCTTGGAGAGAAAGGGAAAACCAGGGCAGGCTCTCTTTCCAATCCCTTTCCATCCCAACTCTGGTTGCCTCTGAAGCAGATCCCTTGTCTTAGAAGGGGGAGCAGGAACCTCAGGCACCCCCATGTTGACCTGTGGATTGGGGTATGAGGGAGGTGGGGGTGCACCCCCTCTGCACTCAACTCTGTCTCTGTCTGTCTCTCCACCTTATTCTCTATCTTTCCCTCTCAGCCCATTTTTGTCTTGTTCTCTGTCTCTCTGCTTCTCTCATCTCAATCTCTGGGTCTCTGTCTCTCGCTCACGGCTGGAGGGAAAGTCCTGCTTCTGCTGTCCTGTCCTCCCTCCCTCCTTTCTTCCCTCCTTCCCTGCCCAGCAGCTCTGGGCCCCCAGGGTCACATGAGGCTGTTGGTTGGCAGGGCTTGGCAGTAAGTTGGGGTAGGGGACATCCCTCCACAGTCAGATGAGCCCTGAGCCGCCCCAAGCACCCTGGTGCATAGAGTCCCTGAGTGCAGCTATAGGTCGTGGGTCCCCAGGGTGGCCATATGATGATGCCTGTGGCCACTCTAGGTGCAGATGTTCCTCAAGGACAGCTGGATCAGCTCGCTAAAGGTGGCCATGCGCAGCAGCCTGCGCGACATGAGCAAGGGCTGGTACAACCTCTACGAGACCAACTGGGAGGTGTACCTCATGTCCAAGCTGCGCAAGCTGATGGAGCTGGTGAAGTACATGCTGCAGGACACACTGCGCTTCCTGGTGCAGGACTCACTTGCCAGCTTCTCACAGTTCATCAGCGACACCTGTTGCAGCGTGCTCAACTGCACCGATGACATGGTCTGGGGTGACGACTTAATTAACAGCCCCTACAGGTGGGGCCCGGCGGGGCGGAGGCACCTGTTGACACCAGGTGATGTGTCACCTGCTGGGGATGGAGCAGGGTCAGGGACCAGGGCCAGGGTGCCCATCCATGCCAGGTCCCAGGCAGTAAGGAGAGCCGAGCTCCCTGCAGGCTGCTGGGCAATGTCCTGCCAGCCCTGGCTTGCATTGCTTCTGGTGACCTTCATTCACTCAATCATTGAGTTACTCAGTGGAGAAATATTCTTTGAACACTTGCCATGAACCAGGCATGGTTCTAGGGGAACAAGAGAGGCCCAGTCCCTGGTCTCATGGGAAAGACAGGCAGCAAGCAGATAAATACATACACACAGTCATTGCCGGTTTTGGCAGGGGCCATGATAGACACTGGGGGTGGGTCAGGGAGGAGGTGGCATCTGTGCCAAGACCTGAGATGTAAGAAGAAACAAGTTATGAGGCGATGTGAGGTGGAGGCAGGTACAGGCGGAGAGATCAGCATGGGCAGAGGCACCGAGGGGAGGATAGGCCTGGCGCAGTTGAGGAAGGAAAGGCTGGCCAGTGTGGCTGGAGTCAGGGAGGGGAGGGAGGGCTGCTCAGGATGGAGTGGGAGAGCTTGCAGGGACCAGGCCAGATCTCTTGGGGCCTCCTGAGGTCTCAGCTGGGGGCTGGATTTATTCTAAGTACAGTCAGAAGCCATCAGAGGGTTCCAGCTGGGATCCAGGCTTGGTTCTTGCTGTGTAGCGAAGATGGGAAGCCAAGGAAGATGGGCTCCCGGGGAGAGAGTGGGGGCTACAATGCCTAGGCCCTGGCAACCTCAGCACAGGGGTGGGGGGCCTCCCTCTCGTGTGGTGCTCATGGACCTCAGGTCACCTGAGGAGCAGAGGAACCTGTTTGGTTGGCCTGGGTCTTCCTCTCTGGTAACTTGGAGGTGTGTGGGACGAAGGAGAAGGCAAGTATTGTGCATGGAGAGGCTCAAGAGTCATAGCGCTGGCAGGAAGGGCAGAGGGCTGCTCCTGCACACAGGCCTCCTAGGCCTCTGCCCACAGTCAGCTCGCCATTGCCTGCAGGCCCCGGAAGAATCCCCTGTTCATCATGGACCTGGTGCTGGACAGCTCTGGGGTGCACTATAGCACCCCACTGGAGCAGTTTGAGGCATCTCTGCTGAACCTCTTCGACAAGGGCATCCTGGCCACCCATGCCGTGCCCCAGCTGGAGAAGGTACGTGCTGCAGCCTGAGCAGGCCCCAGGCACCTGCTGCCCTGGCTGCTGATGGCTCCCTGAGCTCAGGGTGCTGCCACAGTTCAACTGTATCACAGGCCTCCTGTCGGGCAGGCAGCATGCTCAGCCCTGTAAATCTCAAATATCCCATTTAATCCTCATCACAAGCTGCACTGTGACCTATTAACACTCGCATTCTGTAGGTGGGGCTTGGAGAAGTGTAATAGCCTAAGATTGTGTAGCTGCTAATGTCAGATTTTGTAGGTGAGGCTTGGAGAAGTGTAATAGTTAGCCTAAGATTGCATAGCTGCTAAGTGTTGGAACTGCGATCTGAACCCTGGGCTTGCTGGTCCTCTGCTGCCACAGCCAGATCTGATGTAGACCCCACGCTCTTGATCCCACCCAGCTCTTGGCCTCTCTCTTCATCTCCAGAGGTGGACACAGGCCGGCTTCCACATACAGACCCTCTGTCCAACGTCCCCACCAGTCACTGCCACTGCACACACACCCAGCTGCACACAGCCCACTTCCAGACCCAAGAGCCTCTGTAGCCCTAGCCCTTCTTGTCGCCTTTGCTGGTCAGTTAGAGCCTTCATGACCCAGCTGTCTTTTCTGCACCTTTTCTTGGTCCTGGGCTGAGTCAGGCCCAGGCAGAGTCATGCCCAGGCAGAGGAAGATGCTGCCCCTTGGTGGGCCTCACAGGGGCGTCTGGCCTTGTAAAGAGACAGCACAGCAAACCCCCTTCTCCCGCTGCATCCCTCCTTTTGTATTTGGTCACCCTGCCACCCTCTAGGCTTCAGGCCACATCCTGCCCCTGCTTGCCCTGCT
CACCTTCCCCTCCAGGATTGTCTGCCCTGCCATTGTGGGCGTCATCAGCCCAACACTCCCTGCACCTCCCCTGTCTCCAGCACTTGTCCCACTTCTCCCTGCTGCCTGGAGGGCTCTGGACCAGGGGAAGGGAAGAAGGCTCTTTTTGAACTTATTAGTGAGAATAGCACAGAAGTTGCAAGGTGAATGTGTACTAGGAAACAATGCTTCAGCAGTAGGTGGAAGGGGCTCTGCTGATCAGACCTAGAGGATAGTCCTTCTTCCTCCAGTAGCAAGAGAGGAGACCGAGTCTCAGAGCAGGACCCCGGGGCCCAAGAACCCTCCTTGCTTTCAGCTCACCTGCCAGCCTTCCTAGACTCAGCTTCCTGCATGTCATGTACTCCGGATGCAGGCTGGGGTGTGGACAGTGGGCATTCCAAGAGGTTCTGGTACCTACCCTTTCCTTCCTTGGTGCCCCAGGGCAGGCTGTGGACAGACCTTAAGCTTGTGTGCAGCACGGGCAGGAGTGGATGAGGAGAGGGTTCTTGGTTCTCATCTACTTCTCAGAGGAGCCTGTGACTAGGGGGTCCTGGAAGGAATTCCTTTACCCATCTCAGAGTAGGCACCTCACTGAAGAGCTTCAGTGCCACTCCGGCAAACTATGGAAAGGCGGGGCTCTGGGAACGCCAGTCACTCTTCAGGGAGAAGGCAGGAGTCATGGCCCTCCTTCAAGCACCCTGTGGATCTGTCCTGTCCCCTGGTTTGGCCAGGCAGGGTCTGATACTGGCCCTTGGCCCCTATCCCTGCAGGGCTGGTGAGTGTCCCCAAGTACCACTTCTGGGAGCAGAAGGAGGACTTCACTTTCGTGTCCCTGCTCACACGGCCAGAGGTCATCACGGCCCTCAGCAAGGTGAGGGCCGAGTGCAACAAGGTGACCGCCATGTCCCTGTTCCACTCGAGCCTCTCCAAGTACAGCCACCTGGAGGAATTTGAGCAGATCCAGTCACAGACCTTCTCCCAGGTTTGTGGGCATCAAGGGCACAGGGGGCAAACGCAGGGCAGACCCTTGGAACTGGCAGGCACAGGTCGGGGCTGCAGCGGAAGGCCAGGGTCAGTGGGCCACATGGTGAGGCTGTGAGCCCCTGCTTTTCTCAAAACCTGGCCTCAGCCTCTTCCTAGACCTTATTGGAGGCTGGGGTGGGGACCAAGGGTAATGACTCATCTTGGAGAGAAAGGGAAAACCAGGGCAGGCTCTCTTTCCAATCCCTTTCCATCCCAACTCTGGTTGCCTCTGAAGCAGATCCCTTGTCTTAGAAGGGGGAGCAGGAACCTCAGGCACCCCCATGTTGACCTGTGGATTGGGGTATGAGGGAGGTGGGGGTGCACCCCCTCTGCACTCAACTCTGTCTCTGTCTGTCTCTCCACCTTATTCTCTATCTTTCCCTCTCAGCCCATTTTTGTCTTGTTCTCTGTCTCTCTGCTTCTCTCATCTCAATCTCTGGGTCTCTGTCTCTCGCTCACGGCTGGAGGGAAAGTCCTGCTTCTGCTGTCCTGTCCTCCCTCCCTCCTTTCTTCCCTCCTTCCCTGCCCAGCAGCTCTGGGCCCCCAGGGTCACATGAGGCTGTTGGTTGGCAGGGCTTGGCAGTAAGTTGGGGTAGGGGACATCCCTCCACAGTCAGATGAGCCCTGAGCCGCCCCAAGCACCCTGGTGCATAGAGTCCCTGAGTGCAGCTATAGGTCGTGGGTCCCCAGGGTGGCCATATGATGATGCCTGTGGCCACTCTAGGTGCAGATGTTCCTCAAGGACAGCTGGATCAGCTCGCTAAAGGTGGCCATGCGCAGCAGCCTGCGCGACATGAGCAAGGGCTGGTACAACCTCTACGAGACCAACTGGGAGGTGTACCTCATGTCCAAGCTGCGCAAGCTGATGGAGCTGGTGAAGTACATGCTGCAGGACACACTGCGCTTCCTGGTGCAGGACTCACTTGCCAGCTTCTCACAGTTCATCAGCGACACCTGTTGCAGCGTGCTCAACTGCACCGATGACATGGTCTGGGGTGACGACTTAATAGCCCCTACAGGTGGGGCCCGGCGGGGCGGAGGCACCTGTTGACACCAGGTGATGTGTCACCTGCTGGGGATGGAGCAGGGTCAGGGACCAGGGCCAGGGTGCCCATCCATGCCAGGTCCCAGGCAGTAAGGAGAGCCGAGCTCCCTGCAGGCTGCTGGGCAATGTCCTGCCAGCCCTGGCTTGCATTGCTTCTGGTGACCTTCATTCACTCAATCATTGAGTTACTCAGTGGAGAAATATTCTTTGAACACTTGCCATGAACCAGGCATGGTTCTAGGGGAACAAGAGAGGCCCAGTCCCTGGTCTCATGGGAAAGACAGGCAGCAAGCAGATAAATACATACACACAGTCATTGCCGGTTTTGGCAGGGGCCATGATAGACACTGGGGGTGGGTCAGGGAGGAGGTGGCATCTGTGCCAAGACCTGAGATGTAAGAAGAAACAAGTTATGAGGCGATGTGAGGTGGAGGCAGGTACAGGCGGAGAGATCAGCATGGGCAGAGGCACCGAGGGGAGGATAGGCCTGGCGCAGTTGAGGAAGGAAAGGCTGGCCAGTGTGGCTGGAGTCAGGGAGGGGAGGGAGGGCTGCTCAGGATGGAGTGGGAGAGCTTGCAGGGACCAGGCCAGATCTCTTGGGGCCTCCTGAGGTCTCAGCTGGGGGCTGGATTTATTCTAAGTACAGTCAGAAGCCATCAGAGGGTTCCAGCTGGGATCCAGGCTTGGTTCTTGCTGTGTAGCGAAGATGGGAAGCCAAGGAAGATGGGCTCCCGGGGAGAGAGTGGGGGCTACAATGCCTAGGCCCTGGCAACCTCAGCACAGGGGTGGGGGGCCTCCCTCTCGTGTGGTGCTCATGGACCTCAGGTCACCTGAGGAGCAGAGGAACCTGTTTGGTTGGCCTGGGTCTTCCTCTCTGGTAACTTGGAGGTGTGTGGGACGAAGGAGAAGGCAAGTATTGTGCATGGAGAGGCTCAAGAGTCATAGCGCTGGCAGGAAGGGCAGAGGGCTGCTCCTGCACACAGGCCTCCTAGGCCTCTGCCCACAGTCAGCTCGCCATTGCCTGCAGGCCCCGGAAGAATCCCCTGTTCATCATGGACCTGGTGCTGGACAGCTCTGGGGTGCACTATAGCACCCCACTGGAGCAGTTTGAGGCATCTCTGCTGAACCTCTTCGACAAGGGCATCCTGGCCACCCATGCCGTGCCCCAGCTGGAGAAGGTACGTGCTGCAGCCTGAGCAGGCCCCAGGCACCTGCTGCCCTGGCTGCTGATGGCTCCCTGAGCTCAGGGTGCTGCCACAGTTCAACTGTATCACAGGCCTCCTGTCGGGCAGGCAGCATGCTCAGCCCTGTAAATCTCAAATATCCCATTTAATCCTCATCACAAGCTGCACTGTGACCTATTAACACTCGCATTCTGTAGGTGGGGCTTGGAGAAGTGTAATAGCCTAAGATTGTGTAGCTGCTAATGTCAGATTTTGTAGGTGAGGCTTGGAGAAGTGTAATAGTTAGCCTAAGATTGCATAGCTGCTAAGTGTTGGAACTGCGATCTGAACCCTGGGCTTGCTGGTCCTCTGCTGCCACAGCCAGATCTGATGTAGACCCCACGCTCTTGATCCCACCCAGCTCTTGGCCTCTCTCTTCATCTCCAGAGGTGGACACAGGCCGGCTTCCACATACAGACCCTCTGTCCAACGTCCCCACCAGTCACTGCCACTGCACACACACCCAGCTGCACACAGCCCACTTCCAGACCCAAGAGCCTCTGTAGCCCTAGCCCTTCTTGTCGCCTTTGCTGGTCAGTTAGAGCCTTCATGACCCAGCTGTCTTTTCTGCACCTTTTCTTGGTCCTGGGCTGAGTCAGGCCCAGGCAGAGTCATGCCCAGGCAGAGGAAGATGCTGCCCCTTGGTGGGCCTCACAGGGGCGTCTGGCCTTGTAAAGAGACAGCACAGCAAACCCCCTTCTCCCGCTGCATCCCTCCTTTTGTATTTGGTCACCCTGCCACCCTCTAGGCTTCAGGCCACATCCTGCCCCTGCTTGCCCTGCTNNNN
pathogenic
68,993
Variant at chromosome 3, position 52371934, gene DNAH1 (dynein axonemal heavy chain 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
benign
GCTGTGGCATGGTGTACCTGGAGCCCAGCATCCTGGGGCTCATGCCCTTCATCGAGTGCTGGCTGAGGAAGCTGCCTCCCTTGCTGAAGCCCTATGAGGAGCATTTCAAGGCCCTCTTTGTCAGCTTCCTGGAGGTGAGTGAGGCCACGGGTATGTCTGACCCTGGCAGGGCAGCAGGGCACTGTGGCTGCCAGCCATGAGAACTGGGTGCCTACTCCCTGCAGGAATCCATCTCCTTCGTTCGGTCCTCAGTGAAGGAGGTGATCGCCTCAACCAACTGCAACCTGACCATGAGCCTCCTCAAGCTGCTGGACTGCTTCTTCAAGCCCTTTCTGCCTAGAGAGGTACAGCCCTGAGAGTGGGGCTAGATGCACCTGGTCCCTCTCCCCACACTGCTCTCCTTGCTCTCTGGGGCCTGAAAGAGAGAATTGGATTGGTGCAACATGGTGCAACATGGACAAGACCACCTGTCCAATTGGCTGTAGAGAAACAAAGCTGTGTAGCAGAGGTCAAGACATGCCCCTGCCCCACTTCCTCAGGCCGCTTGATACTGTTCCTGTCTCAGCCTGATACTGTTCCCTTCATCCCCAGGGCCTCAAGAAAATACCCTCTGAAAAGCTGAGTCGCATCGTAGAGTTGATCGAGCCCTGGTTCATCTTCTCCCTGATCTGGAGCGTGGGTGCCACTGGGGACAGCAGTGGCCGCACCAGTTTCAGCCACTGGCTAAGGCTCAAGATGGAGAACGAACAGGTGAGAGCCGGCGGCCCCCAGGGACCAGGAGCCTCAGTCCTACTGGGCCTCACAGCCTGCTTCTCCTCCTGGTTCCCGGCAGCTGACTCTGCTTTTCCCAGAAGAGGGGCTGGTGTTCGATTACAGGCTGGAGGACGCGGGCATCAGTGGCACCAACGACAGTGAGGATGAAGAGGAGGAATACAAGCAGGTGGCCGCAGGCCCTCCCCAGAGACTGCACAGGGAGGGACCACTGGGTGGCTGCTGTTCCCGCAATGAATTATGGCCACACAGGGAGCCGTCACATTGATGGCCACCAGGTCTCAGGCAGCGGTTATTTGCATCATCTCATGAATCCTCATGGCCCTGTAGAGTGGTTATTATTGTGCTTGTTTTCCAGATGTGGCAGAGCTGTACTTGAACCTAGGGCTGGGCTAAGAGGGGAGACATTCGAGTACCTCCCTTTCCAGCCATATGCACTGCCTCTTCCACATTGATGCGGAGCCCAGGGACTGGCCACCTCAGTTCCACTTAAAAGCCCCATTTTCCCAGAGACTGGGCTCCCGAGGGCTGGGGGGCAAGCTCTTGAAGCCTGCTTCAGTGTCCTCATCGCTACTATCAGCTAGCAAGGGCTCCATGAGCTCACCCTCATCCCAAGGTCAAGACCCCAGCCCAGGAGGACAGAGGTGGAAAGGCGTCTGCAGAGACCTGTCCATTACTGTGCAGCGTCCTGCTGGGGGCTCCCAGGGCACATTTGGGTCTAACGTTTAAGACTGTGCCCAGTGGGATGCATTGGTTTGGCCATAGTGATCCCCCCATCAGGGGACGTCTGCAAGCTGGGTCAGGGCTGCTGTGAGTGAAGGGATTTGTGCAGGCGGGGACAGTGTTGGGAAGACTGGACCTAGTGGCCTCTCAGCTTCCAGCTGACACCAGTGCCCATGGTTCTGGCCCCCACATTTCTCGGGTAGCCTGAAACTAAACAGAAAACCCCTTTGCATTCTGGGTTGTTCAATTCTCGGAGCTTCTCCTTTCTGCAGAGACTCAGGGCCTGGCAGTCCTTAGGGAGCCCCCAACCTGGGCAGGGAGAGCCCTCTTATGCAGTTGTGCTCAGAGTCCCCATTCTTGGCTGTTTGTGCTGGGAGTCCCCCTCCCCATGCAGAAAGCAGGGCACAGGACTTTCCATTTCCGCCGGAAGCAGCCCTGCACCTGGACCCGCTTGCCAAAGCCCAGCCGTGCAGCTCCTGGCCCTTCTGCACTTGGCCATGGGGCCGCAGCCAGGAGTGGGGCAGGGAGGGGTTCCAGGCCCACTGCTGAGCCACCTATGATTCCAGGTTGCCTGGGTGAAGTGGATGGACTCCTCAGCTCCATTCACCATGGTACCAGACACCAACTACTGCAACATCATTGTGCCCACCATGGACACCGTGCAGATGTCCCATTTACTGGACATGCTGCTCACCAACAAGAAGCCCGTGAGCACCCCCCCAGGCCCTGCCTCCACTGTCCCCAAGGCCTATATTGGGGGTTGACCAGCCTCCCACATGGATGCAGGGGCAGCTCCTCCTGTGCACCAGGCCCACCGCATGCTCCTGTGCCATCCCCGCTCTGCCAGGTGCTGTGCATTGGGCCAACAGGCACGGGGAAGACGCTCACCATCTCTGACAAGCTCCTCAAGAACCTGGCACTGGATTACATCAGCCACTTCCTCACCTTCTCAGCCCGCACTTCAGCCAACCAGACCCAGGACTTCATTGACAGCAAGCTGGACAAGAGGCAGGGCACCCCTCCCTCCTTCCTCACCCCTGCATCCTCCCAGCCTGGCCGATCCAGCTGCTGTCCCACCTCTCCACCAAATTATGCTCCTGGGTTTGCCAGGAACCTCCCAGGGGGAGCTGACAGCCCCCCAATGGGCCCAGGGTTCCCTCACAGACTGCTCCAGAGCCTTCCCTGTATCAAAAATTCCTACAAAGCCAGTCAGCGAGTGGGTGCTCGCCCTGGCTGTGCCCTTGGACAGGGCCCTGGGTCTGTCTGTGAGAAGCCTGTTGTCCATCTGCCTGGGAGGCGAGACTCACTTTGAGGGAGCTCAGACTCAGGTCAGCCTGTCCCAGCTGTCCCAGGACACTCAGAACAAGGATGAGGGTGGGTCAAGGCATCTAGCAATTTGGAGGAGGCTAAAATTTAGCAAGGGCTTCCCAGAGGCAAAGCTGCCACCCGTTCGCCCCTGGATTCTCAGAGGACCTGGTGCCTGTGGGTGCTGGGCTCACACAGCCCCTCCCCTCAGGCGGAAGGGTGTGTTTGGACCACCTCTGGGGCGCAACTTTATCTTCTTCATCGATGACCTGAACATGCCGGCCCTGGAGACCTACGGTGCACAGCCACCCATCGAGCTGTTGCGCCAGTGGATGGACCACGGCGGCTGGTACGACCGCAAGATCATTGGTGAGTGTGGCCGGCCTGGCTCACAGGGCAAGGGCTACGCGTGCTGTGCAGGGGCACAGGAGGCACAGCACTGAAGGCCTACAATACTTTAAGGCACCCACAAAAATGTTTTAATTTCTCTTAAAATTAAAGGGGAGGAGGGGGGCCGGCTGGGGGAGGGGCGGAGAGACGCCGCCGCCACGGCTGCCGCAGCCTCTGGAAGCCTGGAAAAGGGGAAGCGAGAGCAAGTGAATGTCTCAGTCCCCAGGTGGCGGTGGTGGCCGCGGGGGCGCGACGGCGGGGCGGGGGCGCTGCTGCTGCGGGGGCAGGAAGCGGCAAGGGCGGTGGCGGCCCGCTCCAGCCATGCCGAATAAAACAAGAAGGAGAAAGAATCACCAAAAGCAGGGAAGAGTGGAAAAAGTTCAAAAGAAGGACAAGACACAGTAGAATCAGAGCAAATTTCCGTCAGGAAAAACAGCCTTGTTGCTGTCCCGTCTACAGTGTCTGCTAAAATAAAAGTACCCGTCTCTCAGCCCATAGTGAAGAAAGACAAACAGCAAAATTCTTCAAGGTTTAGCGCAAGCAGTAATAGAGAACTTCAAAAACTACCATCCTTAAAAGATGTTCCTCCTGCTGATCAAAAGAAGTTTTTTATCCAGAAGTTATGTCAGTGTTGCGTCCTTTTTGACTTTGTTTCTGATCCACTAAGTGAACTAAAGTAGAAGGAATTAAAACGAGCTGCTTTAAGTGAAATGGTAGAATATATCACCCATAATTGGAATGTGATCACAGAGCCTGTTTACCCAGAAGTAGTCCATATGTTTGCAGTTAACATGTTTCGAATATTACCACCTTCCTCCAATCCTACGGGAGCAGAATTTGACTCAGAGGAAGATGAACCAACGTTAGAAGCAGGCTGGCTTCATCTACACTTATTTATGAATTTTTC
GCTGTGGCATGGTGTACCTGGAGCCCAGCATCCTGGGGCTCATGCCCTTCATCGAGTGCTGGCTGAGGAAGCTGCCTCCCTTGCTGAAGCCCTATGAGGAGCATTTCAAGGCCCTCTTTGTCAGCTTCCTGGAGGTGAGTGAGGCCACGGGTATGTCTGACCCTGGCAGGGCAGCAGGGCACTGTGGCTGCCAGCCATGAGAACTGGGTGCCTACTCCCTGCAGGAATCCATCTCCTTCGTTCGGTCCTCAGTGAAGGAGGTGATCGCCTCAACCAACTGCAACCTGACCATGAGCCTCCTCAAGCTGCTGGACTGCTTCTTCAAGCCCTTTCTGCCTAGAGAGGTACAGCCCTGAGAGTGGGGCTAGATGCACCTGGTCCCTCTCCCCACACTGCTCTCCTTGCTCTCTGGGGCCTGAAAGAGAGAATTGGATTGGTGCAACATGGTGCAACATGGACAAGACCACCTGTCCAATTGGCTGTAGAGAAACAAAGCTGTGTAGCAGAGGTCAAGACATGCCCCTGCCCCACTTCCTCAGGCCGCTTGATACTGTTCCTGTCTCAGCCTGATACTGTTCCCTTCATCCCCAGGGCCTCAAGAAAATACCCTCTGAAAAGCTGAGTCGCATCGTAGAGTTGATCGAGCCCTGGTTCATCTTCTCCCTGATCTGGAGCGTGGGTGCCACTGGGGACAGCAGTGGCCGCACCAGTTTCAGCCACTGGCTAAGGCTCAAGATGGAGAACGAACAGGTGAGAGCCGGCGGCCCCCAGGGACCAGGAGCCTCAGTCCTACTGGGCCTCACAGCCTGCTTCTCCTCCTGGTTCCCGGCAGCTGACTCTGCTTTTCCCAGAAGAGGGGCTGGTGTTCGATTACAGGCTGGAGGACGCGGGCATCAGTGGCACCAACGACAGTGAGGATGAAGAGGAGGAATACAAGCAGGTGGCCGCAGGCCCTCCCCAGAGACTGCACAGGGAGGGACCACTGGGTGGCTGCTGTTCCCGCAATGAATTATGGCCACACAGGGAGCCGTCACATTGATGGCCACCAGGTCTCAGGCAGCGGTTATTTGCATCATCTCATGAATCCTCATGGCCCTGTAGAGTGGTTATTATTGTGCTTGTTTTCCAGATGTGGCAGAGCTGTACTTGAACCTAGGGCTGGGCTAAGAGGGGAGACATTCGAGTACCTCCCTTTCCAGCCATATGCACTGCCTCTTCCACATTGATGCGGAGCCCAGGGACTGGCCACCTCAGTTCCACTTAAAAGCCCCATTTTCCCAGAGACTGGGCTCCCGAGGGCTGGGGGGCAAGCTCTTGAAGCCTGCTTCAGTGTCCTCATCGCTACTATCAGCTAGCAAGGGCTCCATGAGCTCACCCTCATCCCAAGGTCAAGACCCCAGCCCAGGAGGACAGAGGTGGAAAGGCGTCTGCAGAGACCTGTCCATTACTGTGCAGCGTCCTGCTGGGGGCTCCCAGGGCACATTTGGGTCTAACGTTTAAGACTGTGCCCAGTGGGATGCATTGGTTTGGCCATAGTGATCCCCCCATCAGGGGACGTCTGCAAGCTGGGTCAGGGCTGCTGTGAGTGAAGGGATTTGTGCAGGCGGGGACAGTGTTGGGAAGACTGGACCTAGTGGCCTCTCAGCTTCCAGCTGACACCAGTGCCCATGGTTCTGGCCCCCACATTTCTCGGGTAGCCTGAAACTAAACAGAAAACCCCTTTGCATTCTGGGTTGTTCAATTCTCGGAGCTTCTCCTTTCTGCAGAGACTCAGGGCCTGGCAGTCCTTAGGGAGCCCCCAACCTGGGCAGGGAGAGCCCTCTTATGCAGTTGTGCTCAGAGTCCCCATTCTTGGCTGTTTGTGCTGGGAGTCCCCCTCCCCATGCAGAAAGCAGGGCACAGGACTTTCCATTTCCGCCGGAAGCAGCCCTGCACCTGGACCCGCTTGCCAAAGCCCAGCCGTGCAGCTCCTGGCCCTTCTGCACTTGGCCATGGGGCCGCAGCCAGGAGTGGGGCAGGGAGGGGTTCCAGGCCCACTGCTGAGCCACCTGATTCCAGGTTGCCTGGGTGAAGTGGATGGACTCCTCAGCTCCATTCACCATGGTACCAGACACCAACTACTGCAACATCATTGTGCCCACCATGGACACCGTGCAGATGTCCCATTTACTGGACATGCTGCTCACCAACAAGAAGCCCGTGAGCACCCCCCCAGGCCCTGCCTCCACTGTCCCCAAGGCCTATATTGGGGGTTGACCAGCCTCCCACATGGATGCAGGGGCAGCTCCTCCTGTGCACCAGGCCCACCGCATGCTCCTGTGCCATCCCCGCTCTGCCAGGTGCTGTGCATTGGGCCAACAGGCACGGGGAAGACGCTCACCATCTCTGACAAGCTCCTCAAGAACCTGGCACTGGATTACATCAGCCACTTCCTCACCTTCTCAGCCCGCACTTCAGCCAACCAGACCCAGGACTTCATTGACAGCAAGCTGGACAAGAGGCAGGGCACCCCTCCCTCCTTCCTCACCCCTGCATCCTCCCAGCCTGGCCGATCCAGCTGCTGTCCCACCTCTCCACCAAATTATGCTCCTGGGTTTGCCAGGAACCTCCCAGGGGGAGCTGACAGCCCCCCAATGGGCCCAGGGTTCCCTCACAGACTGCTCCAGAGCCTTCCCTGTATCAAAAATTCCTACAAAGCCAGTCAGCGAGTGGGTGCTCGCCCTGGCTGTGCCCTTGGACAGGGCCCTGGGTCTGTCTGTGAGAAGCCTGTTGTCCATCTGCCTGGGAGGCGAGACTCACTTTGAGGGAGCTCAGACTCAGGTCAGCCTGTCCCAGCTGTCCCAGGACACTCAGAACAAGGATGAGGGTGGGTCAAGGCATCTAGCAATTTGGAGGAGGCTAAAATTTAGCAAGGGCTTCCCAGAGGCAAAGCTGCCACCCGTTCGCCCCTGGATTCTCAGAGGACCTGGTGCCTGTGGGTGCTGGGCTCACACAGCCCCTCCCCTCAGGCGGAAGGGTGTGTTTGGACCACCTCTGGGGCGCAACTTTATCTTCTTCATCGATGACCTGAACATGCCGGCCCTGGAGACCTACGGTGCACAGCCACCCATCGAGCTGTTGCGCCAGTGGATGGACCACGGCGGCTGGTACGACCGCAAGATCATTGGTGAGTGTGGCCGGCCTGGCTCACAGGGCAAGGGCTACGCGTGCTGTGCAGGGGCACAGGAGGCACAGCACTGAAGGCCTACAATACTTTAAGGCACCCACAAAAATGTTTTAATTTCTCTTAAAATTAAAGGGGAGGAGGGGGGCCGGCTGGGGGAGGGGCGGAGAGACGCCGCCGCCACGGCTGCCGCAGCCTCTGGAAGCCTGGAAAAGGGGAAGCGAGAGCAAGTGAATGTCTCAGTCCCCAGGTGGCGGTGGTGGCCGCGGGGGCGCGACGGCGGGGCGGGGGCGCTGCTGCTGCGGGGGCAGGAAGCGGCAAGGGCGGTGGCGGCCCGCTCCAGCCATGCCGAATAAAACAAGAAGGAGAAAGAATCACCAAAAGCAGGGAAGAGTGGAAAAAGTTCAAAAGAAGGACAAGACACAGTAGAATCAGAGCAAATTTCCGTCAGGAAAAACAGCCTTGTTGCTGTCCCGTCTACAGTGTCTGCTAAAATAAAAGTACCCGTCTCTCAGCCCATAGTGAAGAAAGACAAACAGCAAAATTCTTCAAGGTTTAGCGCAAGCAGTAATAGAGAACTTCAAAAACTACCATCCTTAAAAGATGTTCCTCCTGCTGATCAAAAGAAGTTTTTTATCCAGAAGTTATGTCAGTGTTGCGTCCTTTTTGACTTTGTTTCTGATCCACTAAGTGAACTAAAGTAGAAGGAATTAAAACGAGCTGCTTTAAGTGAAATGGTAGAATATATCACCCATAATTGGAATGTGATCACAGAGCCTGTTTACCCAGAAGTAGTCCATATGTTTGCAGTTAACATGTTTCGAATATTACCACCTTCCTCCAATCCTACGGGAGCAGAATTTGACTCAGAGGAAGATGAACCAACGTTAGAAGCAGGCTGGCTTCATCTACACTTATTTATGAATTTTTCNN
benign
69,067
Does the variant impacting DNAH1 (dynein axonemal heavy chain 1) on chromosome 3, position 52372093, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
benign
ACCCTGGCAGGGCAGCAGGGCACTGTGGCTGCCAGCCATGAGAACTGGGTGCCTACTCCCTGCAGGAATCCATCTCCTTCGTTCGGTCCTCAGTGAAGGAGGTGATCGCCTCAACCAACTGCAACCTGACCATGAGCCTCCTCAAGCTGCTGGACTGCTTCTTCAAGCCCTTTCTGCCTAGAGAGGTACAGCCCTGAGAGTGGGGCTAGATGCACCTGGTCCCTCTCCCCACACTGCTCTCCTTGCTCTCTGGGGCCTGAAAGAGAGAATTGGATTGGTGCAACATGGTGCAACATGGACAAGACCACCTGTCCAATTGGCTGTAGAGAAACAAAGCTGTGTAGCAGAGGTCAAGACATGCCCCTGCCCCACTTCCTCAGGCCGCTTGATACTGTTCCTGTCTCAGCCTGATACTGTTCCCTTCATCCCCAGGGCCTCAAGAAAATACCCTCTGAAAAGCTGAGTCGCATCGTAGAGTTGATCGAGCCCTGGTTCATCTTCTCCCTGATCTGGAGCGTGGGTGCCACTGGGGACAGCAGTGGCCGCACCAGTTTCAGCCACTGGCTAAGGCTCAAGATGGAGAACGAACAGGTGAGAGCCGGCGGCCCCCAGGGACCAGGAGCCTCAGTCCTACTGGGCCTCACAGCCTGCTTCTCCTCCTGGTTCCCGGCAGCTGACTCTGCTTTTCCCAGAAGAGGGGCTGGTGTTCGATTACAGGCTGGAGGACGCGGGCATCAGTGGCACCAACGACAGTGAGGATGAAGAGGAGGAATACAAGCAGGTGGCCGCAGGCCCTCCCCAGAGACTGCACAGGGAGGGACCACTGGGTGGCTGCTGTTCCCGCAATGAATTATGGCCACACAGGGAGCCGTCACATTGATGGCCACCAGGTCTCAGGCAGCGGTTATTTGCATCATCTCATGAATCCTCATGGCCCTGTAGAGTGGTTATTATTGTGCTTGTTTTCCAGATGTGGCAGAGCTGTACTTGAACCTAGGGCTGGGCTAAGAGGGGAGACATTCGAGTACCTCCCTTTCCAGCCATATGCACTGCCTCTTCCACATTGATGCGGAGCCCAGGGACTGGCCACCTCAGTTCCACTTAAAAGCCCCATTTTCCCAGAGACTGGGCTCCCGAGGGCTGGGGGGCAAGCTCTTGAAGCCTGCTTCAGTGTCCTCATCGCTACTATCAGCTAGCAAGGGCTCCATGAGCTCACCCTCATCCCAAGGTCAAGACCCCAGCCCAGGAGGACAGAGGTGGAAAGGCGTCTGCAGAGACCTGTCCATTACTGTGCAGCGTCCTGCTGGGGGCTCCCAGGGCACATTTGGGTCTAACGTTTAAGACTGTGCCCAGTGGGATGCATTGGTTTGGCCATAGTGATCCCCCCATCAGGGGACGTCTGCAAGCTGGGTCAGGGCTGCTGTGAGTGAAGGGATTTGTGCAGGCGGGGACAGTGTTGGGAAGACTGGACCTAGTGGCCTCTCAGCTTCCAGCTGACACCAGTGCCCATGGTTCTGGCCCCCACATTTCTCGGGTAGCCTGAAACTAAACAGAAAACCCCTTTGCATTCTGGGTTGTTCAATTCTCGGAGCTTCTCCTTTCTGCAGAGACTCAGGGCCTGGCAGTCCTTAGGGAGCCCCCAACCTGGGCAGGGAGAGCCCTCTTATGCAGTTGTGCTCAGAGTCCCCATTCTTGGCTGTTTGTGCTGGGAGTCCCCCTCCCCATGCAGAAAGCAGGGCACAGGACTTTCCATTTCCGCCGGAAGCAGCCCTGCACCTGGACCCGCTTGCCAAAGCCCAGCCGTGCAGCTCCTGGCCCTTCTGCACTTGGCCATGGGGCCGCAGCCAGGAGTGGGGCAGGGAGGGGTTCCAGGCCCACTGCTGAGCCACCTATGATTCCAGGTTGCCTGGGTGAAGTGGATGGACTCCTCAGCTCCATTCACCATGGTACCAGACACCAACTACTGCAACATCATTGTGCCCACCATGGACACCGTGCAGATGTCCCATTTACTGGACATGCTGCTCACCAACAAGAAGCCCGTGAGCACCCCCCCAGGCCCTGCCTCCACTGTCCCCAAGGCCTATATTGGGGGTTGACCAGCCTCCCACATGGATGCAGGGGCAGCTCCTCCTGTGCACCAGGCCCACCGCATGCTCCTGTGCCATCCCCGCTCTGCCAGGTGCTGTGCATTGGGCCAACAGGCACGGGGAAGACGCTCACCATCTCTGACAAGCTCCTCAAGAACCTGGCACTGGATTACATCAGCCACTTCCTCACCTTCTCAGCCCGCACTTCAGCCAACCAGACCCAGGACTTCATTGACAGCAAGCTGGACAAGAGGCAGGGCACCCCTCCCTCCTTCCTCACCCCTGCATCCTCCCAGCCTGGCCGATCCAGCTGCTGTCCCACCTCTCCACCAAATTATGCTCCTGGGTTTGCCAGGAACCTCCCAGGGGGAGCTGACAGCCCCCCAATGGGCCCAGGGTTCCCTCACAGACTGCTCCAGAGCCTTCCCTGTATCAAAAATTCCTACAAAGCCAGTCAGCGAGTGGGTGCTCGCCCTGGCTGTGCCCTTGGACAGGGCCCTGGGTCTGTCTGTGAGAAGCCTGTTGTCCATCTGCCTGGGAGGCGAGACTCACTTTGAGGGAGCTCAGACTCAGGTCAGCCTGTCCCAGCTGTCCCAGGACACTCAGAACAAGGATGAGGGTGGGTCAAGGCATCTAGCAATTTGGAGGAGGCTAAAATTTAGCAAGGGCTTCCCAGAGGCAAAGCTGCCACCCGTTCGCCCCTGGATTCTCAGAGGACCTGGTGCCTGTGGGTGCTGGGCTCACACAGCCCCTCCCCTCAGGCGGAAGGGTGTGTTTGGACCACCTCTGGGGCGCAACTTTATCTTCTTCATCGATGACCTGAACATGCCGGCCCTGGAGACCTACGGTGCACAGCCACCCATCGAGCTGTTGCGCCAGTGGATGGACCACGGCGGCTGGTACGACCGCAAGATCATTGGTGAGTGTGGCCGGCCTGGCTCACAGGGCAAGGGCTACGCGTGCTGTGCAGGGGCACAGGAGGCACAGCACTGAAGGCCTACAATACTTTAAGGCACCCACAAAAATGTTTTAATTTCTCTTAAAATTAAAGGGGAGGAGGGGGGCCGGCTGGGGGAGGGGCGGAGAGACGCCGCCGCCACGGCTGCCGCAGCCTCTGGAAGCCTGGAAAAGGGGAAGCGAGAGCAAGTGAATGTCTCAGTCCCCAGGTGGCGGTGGTGGCCGCGGGGGCGCGACGGCGGGGCGGGGGCGCTGCTGCTGCGGGGGCAGGAAGCGGCAAGGGCGGTGGCGGCCCGCTCCAGCCATGCCGAATAAAACAAGAAGGAGAAAGAATCACCAAAAGCAGGGAAGAGTGGAAAAAGTTCAAAAGAAGGACAAGACACAGTAGAATCAGAGCAAATTTCCGTCAGGAAAAACAGCCTTGTTGCTGTCCCGTCTACAGTGTCTGCTAAAATAAAAGTACCCGTCTCTCAGCCCATAGTGAAGAAAGACAAACAGCAAAATTCTTCAAGGTTTAGCGCAAGCAGTAATAGAGAACTTCAAAAACTACCATCCTTAAAAGATGTTCCTCCTGCTGATCAAAAGAAGTTTTTTATCCAGAAGTTATGTCAGTGTTGCGTCCTTTTTGACTTTGTTTCTGATCCACTAAGTGAACTAAAGTAGAAGGAATTAAAACGAGCTGCTTTAAGTGAAATGGTAGAATATATCACCCATAATTGGAATGTGATCACAGAGCCTGTTTACCCAGAAGTAGTCCATATGTTTGCAGTTAACATGTTTCGAATATTACCACCTTCCTCCAATCCTACGGGAGCAGAATTTGACTCAGAGGAAGATGAACCAACGTTAGAAGCAGGCTGGCTTCATCTACACTTATTTATGAATTTTTCTTAAGATTTTTAGAGTCTGCAGATTTCCAATCTAATATAGCGAAGAAATATATTGATCAGAAGTTTGTATTGCAGCTTTTAAAGCTCTTTGACAGTGAAGATCCTCAGGAGAGAGATTTTCTTAAAACCACCCTTCACAGAATCTATGGGAAATTCCTA
ACCCTGGCAGGGCAGCAGGGCACTGTGGCTGCCAGCCATGAGAACTGGGTGCCTACTCCCTGCAGGAATCCATCTCCTTCGTTCGGTCCTCAGTGAAGGAGGTGATCGCCTCAACCAACTGCAACCTGACCATGAGCCTCCTCAAGCTGCTGGACTGCTTCTTCAAGCCCTTTCTGCCTAGAGAGGTACAGCCCTGAGAGTGGGGCTAGATGCACCTGGTCCCTCTCCCCACACTGCTCTCCTTGCTCTCTGGGGCCTGAAAGAGAGAATTGGATTGGTGCAACATGGTGCAACATGGACAAGACCACCTGTCCAATTGGCTGTAGAGAAACAAAGCTGTGTAGCAGAGGTCAAGACATGCCCCTGCCCCACTTCCTCAGGCCGCTTGATACTGTTCCTGTCTCAGCCTGATACTGTTCCCTTCATCCCCAGGGCCTCAAGAAAATACCCTCTGAAAAGCTGAGTCGCATCGTAGAGTTGATCGAGCCCTGGTTCATCTTCTCCCTGATCTGGAGCGTGGGTGCCACTGGGGACAGCAGTGGCCGCACCAGTTTCAGCCACTGGCTAAGGCTCAAGATGGAGAACGAACAGGTGAGAGCCGGCGGCCCCCAGGGACCAGGAGCCTCAGTCCTACTGGGCCTCACAGCCTGCTTCTCCTCCTGGTTCCCGGCAGCTGACTCTGCTTTTCCCAGAAGAGGGGCTGGTGTTCGATTACAGGCTGGAGGACGCGGGCATCAGTGGCACCAACGACAGTGAGGATGAAGAGGAGGAATACAAGCAGGTGGCCGCAGGCCCTCCCCAGAGACTGCACAGGGAGGGACCACTGGGTGGCTGCTGTTCCCGCAATGAATTATGGCCACACAGGGAGCCGTCACATTGATGGCCACCAGGTCTCAGGCAGCGGTTATTTGCATCATCTCATGAATCCTCATGGCCCTGTAGAGTGGTTATTATTGTGCTTGTTTTCCAGATGTGGCAGAGCTGTACTTGAACCTAGGGCTGGGCTAAGAGGGGAGACATTCGAGTACCTCCCTTTCCAGCCATATGCACTGCCTCTTCCACATTGATGCGGAGCCCAGGGACTGGCCACCTCAGTTCCACTTAAAAGCCCCATTTTCCCAGAGACTGGGCTCCCGAGGGCTGGGGGGCAAGCTCTTGAAGCCTGCTTCAGTGTCCTCATCGCTACTATCAGCTAGCAAGGGCTCCATGAGCTCACCCTCATCCCAAGGTCAAGACCCCAGCCCAGGAGGACAGAGGTGGAAAGGCGTCTGCAGAGACCTGTCCATTACTGTGCAGCGTCCTGCTGGGGGCTCCCAGGGCACATTTGGGTCTAACGTTTAAGACTGTGCCCAGTGGGATGCATTGGTTTGGCCATAGTGATCCCCCCATCAGGGGACGTCTGCAAGCTGGGTCAGGGCTGCTGTGAGTGAAGGGATTTGTGCAGGCGGGGACAGTGTTGGGAAGACTGGACCTAGTGGCCTCTCAGCTTCCAGCTGACACCAGTGCCCATGGTTCTGGCCCCCACATTTCTCGGGTAGCCTGAAACTAAACAGAAAACCCCTTTGCATTCTGGGTTGTTCAATTCTCGGAGCTTCTCCTTTCTGCAGAGACTCAGGGCCTGGCAGTCCTTAGGGAGCCCCCAACCTGGGCAGGGAGAGCCCTCTTATGCAGTTGTGCTCAGAGTCCCCATTCTTGGCTGTTTGTGCTGGGAGTCCCCCTCCCCATGCAGAAAGCAGGGCACAGGACTTTCCATTTCCGCCGGAAGCAGCCCTGCACCTGGACCCGCTTGCCAAAGCCCAGCCGTGCAGCTCCTGGCCCTTCTGCACTTGGCCATGGGGCCGCAGCCAGGAGTGGGGCAGGGAGGGGTTCCAGGCCCACTGCTGAGCCACCTATGATTCCAGGTTGCCTGGGTGAAGTGGATGGACTCCTCAGCTCCATTCACCATGGTACCAGACACCAACTACTGCAACATCATTGTGCCCACCATGGACACCGTGCAGATGTCCCATTTACTGGACATGCTGCTCACCAACAAGAAGCCCGTGAGCACCCCCCAGGCCCTGCCTCCACTGTCCCCAAGGCCTATATTGGGGGTTGACCAGCCTCCCACATGGATGCAGGGGCAGCTCCTCCTGTGCACCAGGCCCACCGCATGCTCCTGTGCCATCCCCGCTCTGCCAGGTGCTGTGCATTGGGCCAACAGGCACGGGGAAGACGCTCACCATCTCTGACAAGCTCCTCAAGAACCTGGCACTGGATTACATCAGCCACTTCCTCACCTTCTCAGCCCGCACTTCAGCCAACCAGACCCAGGACTTCATTGACAGCAAGCTGGACAAGAGGCAGGGCACCCCTCCCTCCTTCCTCACCCCTGCATCCTCCCAGCCTGGCCGATCCAGCTGCTGTCCCACCTCTCCACCAAATTATGCTCCTGGGTTTGCCAGGAACCTCCCAGGGGGAGCTGACAGCCCCCCAATGGGCCCAGGGTTCCCTCACAGACTGCTCCAGAGCCTTCCCTGTATCAAAAATTCCTACAAAGCCAGTCAGCGAGTGGGTGCTCGCCCTGGCTGTGCCCTTGGACAGGGCCCTGGGTCTGTCTGTGAGAAGCCTGTTGTCCATCTGCCTGGGAGGCGAGACTCACTTTGAGGGAGCTCAGACTCAGGTCAGCCTGTCCCAGCTGTCCCAGGACACTCAGAACAAGGATGAGGGTGGGTCAAGGCATCTAGCAATTTGGAGGAGGCTAAAATTTAGCAAGGGCTTCCCAGAGGCAAAGCTGCCACCCGTTCGCCCCTGGATTCTCAGAGGACCTGGTGCCTGTGGGTGCTGGGCTCACACAGCCCCTCCCCTCAGGCGGAAGGGTGTGTTTGGACCACCTCTGGGGCGCAACTTTATCTTCTTCATCGATGACCTGAACATGCCGGCCCTGGAGACCTACGGTGCACAGCCACCCATCGAGCTGTTGCGCCAGTGGATGGACCACGGCGGCTGGTACGACCGCAAGATCATTGGTGAGTGTGGCCGGCCTGGCTCACAGGGCAAGGGCTACGCGTGCTGTGCAGGGGCACAGGAGGCACAGCACTGAAGGCCTACAATACTTTAAGGCACCCACAAAAATGTTTTAATTTCTCTTAAAATTAAAGGGGAGGAGGGGGGCCGGCTGGGGGAGGGGCGGAGAGACGCCGCCGCCACGGCTGCCGCAGCCTCTGGAAGCCTGGAAAAGGGGAAGCGAGAGCAAGTGAATGTCTCAGTCCCCAGGTGGCGGTGGTGGCCGCGGGGGCGCGACGGCGGGGCGGGGGCGCTGCTGCTGCGGGGGCAGGAAGCGGCAAGGGCGGTGGCGGCCCGCTCCAGCCATGCCGAATAAAACAAGAAGGAGAAAGAATCACCAAAAGCAGGGAAGAGTGGAAAAAGTTCAAAAGAAGGACAAGACACAGTAGAATCAGAGCAAATTTCCGTCAGGAAAAACAGCCTTGTTGCTGTCCCGTCTACAGTGTCTGCTAAAATAAAAGTACCCGTCTCTCAGCCCATAGTGAAGAAAGACAAACAGCAAAATTCTTCAAGGTTTAGCGCAAGCAGTAATAGAGAACTTCAAAAACTACCATCCTTAAAAGATGTTCCTCCTGCTGATCAAAAGAAGTTTTTTATCCAGAAGTTATGTCAGTGTTGCGTCCTTTTTGACTTTGTTTCTGATCCACTAAGTGAACTAAAGTAGAAGGAATTAAAACGAGCTGCTTTAAGTGAAATGGTAGAATATATCACCCATAATTGGAATGTGATCACAGAGCCTGTTTACCCAGAAGTAGTCCATATGTTTGCAGTTAACATGTTTCGAATATTACCACCTTCCTCCAATCCTACGGGAGCAGAATTTGACTCAGAGGAAGATGAACCAACGTTAGAAGCAGGCTGGCTTCATCTACACTTATTTATGAATTTTTCTTAAGATTTTTAGAGTCTGCAGATTTCCAATCTAATATAGCGAAGAAATATATTGATCAGAAGTTTGTATTGCAGCTTTTAAAGCTCTTTGACAGTGAAGATCCTCAGGAGAGAGATTTTCTTAAAACCACCCTTCACAGAATCTATGGGAAATTCCTAN
benign
69,070
Is the genetic variant on chromosome 3, position 52381706, gene DNAH1 (dynein axonemal heavy chain 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Spermatogenic_failure_18']
TGGCCAGCTGGACTCGGAGCTGAGGCATGAGGAGGCCCAGGCAGCACTGTGCAATCCACCCCATCCTCAGCCAGCCAGCAGTTGCACTTGCCAGCAGCCCCCACACACTGTCCCTGGGCCATGGTGGGAGAGCCAGGCTCCAGTCAGGGCCCCAGGAACTGGGGCCCACCCTCCCTTGCCTGGTGGTTTGAGAGATAGCTGAGGGCTTGGGGGCCAAGGACAGGCACCGATGCTGGGGCTACTGCAGGACCAAGTGCAGCTGCTGCGACTGTGGTATCACGAGAACTGCCGCGTGTTCCGGGACCGACTGGTGAATGAGGAGGACCGCAGCTGGTTCGACCAGCTCCTCAAGCGCTGCATGGAGCAGTGGGAGGTGACCTTCAACAAGGTCTGCCCCTTCCAGCCCATTCTTTACGGGGACTTCATGTCACCAGGCTCCGATGTCAAGTCCTACGAGCTCATCACCAGTGAGAGTAAGGTGAGGGGCCCAGGCAGGCGCCCTGCCCCTGGTGGGGTCCTCTTCAATCTGCCTCCCTGGGGCCCAGGCCCCCTGCAGTCACCACTAACAGACTACCACACTATAACCAGGGGGCCAGGACGCGGGGTAAGACAGCCAGCTCCAGGAGACTCCCGGCATGCCCTTGCTCTCTCTGGGTACCGGTTTCTTCACTTATCTCTGAAAACCAGCCTGTGGTCCAGCTGAGATGGGCTCTAGACACAGGGGCAATCATCCCTCCACAAGGGGCCGGGGGCGGGGCCTGGGGCCATGGGTCTCAGTCAGGACCCCAGGGAGGCAGGGAAGAGGCCTCACTTGGTGGCCCCAGTGCTGCATGGCTGAAGCAGGCCTCCTGACAGTTTCTCTCCACACGCATCCTCTCCTAATTCCAAGAGCTCCCACCAGGGTCACAGGGTCAGCACACCCTGGTAAGCCCCAGAAGGAGCAGGCAGGGCTCTGACCCAACTCTCAGGCCTCCATGTGTCCCTGGGTCAGGCCTCGTGCAGGGGGGCCTGGCTTCTTAAGGCCCAGCGTCCCCACCATGCACAGGAGGAACAGGGTATGCTGTGGCAGGTGAGCTCCCCGTCAGGGAGGGCCCCAGTACACGGTGCTCTGATCAGCCGAGCCCATGATTGGAGTCGCCCCAAAAGTGACAGCAAGCAAGTTCCTACAAGGGACTGCCCCCAAGCCATCCCTAGATTGGGCTGGTTGAGATTCCAAAGAAAGAAGCATTGAATTACAGGGTAATTAGTCCAGAGCATTTATTAGGGGAACTCACATACAGGGGAGAGCAGAGATGTTCTAGCTCAGTATGTGTGCAACAAGGGAGTCATATGAGTTATGGAGTTCACATGAGGACTGAAGGATTTGGGTGGGCTGGGGCTAGCTTCTATGTGTTTAACAATATGCTTGATCCCCCCGTGGGTTTTATTTTTGCTTTTGTTTTTGTTTGTGTGTGTGTGTATGTGACTGGGTCTTGCTCCATCACCTAGGCTGGAGGGCAGTGGCATGAACTTGGCTTACTGCAGCCTCTACCTCATGGGCTCTATCAGTCGTCCCACCTCAGCGTCCTGAGTAGCTGGGACCACAGGCACGCACCACCACGCCCAGCTAATTTTTATTTTTATTTTTTATTTTTTGGTAGAGGCAGAGTTTCGCCATGTTGCCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTTGGCTTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTAGGCCAATCCCTCAGTGTTTTGAGCAACAATCTAAGCAAGTTTATCAGTGTCTGGGAATGTTCAGCTTGGGCTCGAGCCTGCAGGGGAAACATGCAGCTGGCCGGGTCACAGGTGGTCAAGGCACCTGTGCTTCTCAGTCAGGACAGAGAAGAAAGCGGGTGGGTGGGGGGAATCGGGGAGACCCTACAGTAAGAGAGACCCCGCCTTCCCCATCCTCGCCTTGGTGCACAGATGATGCAGGTGATAGAGGAGTACATAGAGGACTACAACCAGATCAACACGGCCAAGCTGAAGCTGGTCCTCTTCATGGACGCCATGAGCCACATCTGTCGCATCAGCCGCACCCTACGCCAGGCGCTGGGCAATGCACTCCTGCTGGGCGTGGGTGGCAGCGGCCGCAGCTCCCTCACAAGGCTCGCCTCGCACATGTGAGCGCCTCCAGGGCGTGCTGGGCAGTGGGCGGCCAGGGCTGGCTGGTCGGTTTGACTGACCCATGCTTTTGCACAGTGGTAGAGGCCTCGGGCAACCCTGAAGTAGGCCCGTGCAGCCTACAGGCTTCTGGAAAGACTAGTAGCAGGATCTGGGCTCCAGGGAGAGGCAGCAGCAGTGCCTGTGGTGCTGTAGGGAGGGAAGTGTGGTGCAGGCATCCCAGAGGGATTACTAGGGGAGGTGGCCAGGGCTGCTCTCAGAATCAGAGCTGGGAGGATGGAAGGGAAGGGCATTTGGACTGAGGGAACAACTTGGGCAAAGGTCTGAAGGCAAAAAAGCAGGTTCAGGGCCTGAAGGGTCTGCAGGTCTGCCCAGGATGGGAGCAGAATTCCAGGTGGTCAGGGTAGGGTGTGGTCACCCACCACCCTTCAGCGTCTGGCCCCAAGTCCCTGGCATGCTTCAACCCAAACTTCTGCCTCCAGGGCCGAGTACGAGTGCTTCCAGATTGAACTATCCAAGAACTACGGCATGTCCGAGTGGCGAGATGATGTGAAGAAGGTCCTGCTCAAGGCGGGCCTACAGAACCTACCCATCACCTTCCTCTTCTCAGACACCCAGGTGCCACTGCCACAGCAGAGGGCAGGGCTCGGGGGGGCTGGACACAACCCCATCTGAGCATAGCATCCCGGAAGGTGGCCAGTCCTTCATGCCCAGCTCACAGTCAGGGCAGATCTCAGAAGAGACCACCAGGACCAGGTGGGGCCACAGATGGGCAGGTTGAGAGCATGAGACCAAACCCAACCTCTCAGAGCTAAGGTGGGGTATAGATCATCACTCATGCCCCGAAGGTAAAGAAGGCCCTGGTAGCATAGCACCCCACTCACTGGCCAATGGTGTCCCACCTCAAGGACCACAGGGCTTGTCCCCAAAGTGCTAGGGACCCATGGCTTCCCTGCTCCCTCTTGGGATGGCATGAGGCTTCTCCCTAGATCTCTGAGAGGTTGTCTAGGGTCACACGACAGAACAGGCTTCAACCTGGCTGGTGGTCAGGGTTGGGCCCAGGGGCCCAGCCTGAAGCCCCTGAATGTGCCCCATCCTAGACAAAGGCCCCTCTGCTCCCAGCCCTGTCCCAACCCCAGAGCTCCCTTCAAGGCAGCCACTGTGAGTCAGGAAAGGGAGGATGCCATCTAACACAAGCCAGGCCCAGGCTGTATGAGATGGGCAAGGACCTATCTCTGCCCGTGGCCATGGTTTCCTCTTGTGAGTAAACTGAGACATGGAGAGGGGCGAAGAGGAAGATGCCACAACCCCCAGTGAGGACCCAGTGTCCTGCCACAACCCAGTGGTTTTCAGAGCTTCTACATGGGGGCAAGTCCTAGACTATGACTACAGGCTAGTCTGTTATGAGGTCACTTTTGTGACTCTGGGCTTCTCTGAGCCTTAGTGGTACAGTCTGTCAAATGGAGCTGTTGTGAAGGTCCAGCGAGACTGTGGTCATATAGTCCAACATGCAGGGGCTTAGCTCCCCACTCCTTCACCCCTCCCCAGATCAAGAACGAATCCTTCCTGGAAGATATCAACAACGTCCTAAACTCTGGTGACATTCCCAATCTGTATACTGCGGACGAGCAGGACCAGATCGTCAGCACCATGCGGCCCTATATCCAGGAGCAGGGCCTACAGCCCACCAAGGCCAACCTCATGGCTGCTTACACAGGGCGTGTGCGCAGCAACATCCACATGGTGCTGTGCATGAGGTACAGGCAGCTGTCGCCAGGCTGCGCTGGGGCAGCGGAGCTGGGTGTGTACATGGGCTGGCCCCGGGGACACTGGATGCCATGCGCTGGGGCCTGAGATGAGGAGACGCGGCCCTGGGCCTGGCCATCATGCCATTGGGCCCAGGCTGCTGTGCTGCT
TGGCCAGCTGGACTCGGAGCTGAGGCATGAGGAGGCCCAGGCAGCACTGTGCAATCCACCCCATCCTCAGCCAGCCAGCAGTTGCACTTGCCAGCAGCCCCCACACACTGTCCCTGGGCCATGGTGGGAGAGCCAGGCTCCAGTCAGGGCCCCAGGAACTGGGGCCCACCCTCCCTTGCCTGGTGGTTTGAGAGATAGCTGAGGGCTTGGGGGCCAAGGACAGGCACCGATGCTGGGGCTACTGCAGGACCAAGTGCAGCTGCTGCGACTGTGGTATCACGAGAACTGCCGCGTGTTCCGGGACCGACTGGTGAATGAGGAGGACCGCAGCTGGTTCGACCAGCTCCTCAAGCGCTGCATGGAGCAGTGGGAGGTGACCTTCAACAAGGTCTGCCCCTTCCAGCCCATTCTTTACGGGGACTTCATGTCACCAGGCTCCGATGTCAAGTCCTACGAGCTCATCACCAGTGAGAGTAAGGTGAGGGGCCCAGGCAGGCGCCCTGCCCCTGGTGGGGTCCTCTTCAATCTGCCTCCCTGGGGCCCAGGCCCCCTGCAGTCACCACTAACAGACTACCACACTATAACCAGGGGGCCAGGACGCGGGGTAAGACAGCCAGCTCCAGGAGACTCCCGGCATGCCCTTGCTCTCTCTGGGTACCGGTTTCTTCACTTATCTCTGAAAACCAGCCTGTGGTCCAGCTGAGATGGGCTCTAGACACAGGGGCAATCATCCCTCCACAAGGGGCCGGGGGCGGGGCCTGGGGCCATGGGTCTCAGTCAGGACCCCAGGGAGGCAGGGAAGAGGCCTCACTTGGTGGCCCCAGTGCTGCATGGCTGAAGCAGGCCTCCTGACAGTTTCTCTCCACACGCATCCTCTCCTAATTCCAAGAGCTCCCACCAGGGTCACAGGGTCAGCACACCCTGGTAAGCCCCAGAAGGAGCAGGCAGGGCTCTGACCCAACTCTCAGGCCTCCATGTGTCCCTGGGTCAGGCCTCGTGCAGGGGGGCCTGGCTTCTTAAGGCCCAGCGTCCCCACCATGCACAGGAGGAACAGGGTATGCTGTGGCAGGTGAGCTCCCCGTCAGGGAGGGCCCCAGTACACGGTGCTCTGATCAGCCGAGCCCATGATTGGAGTCGCCCCAAAAGTGACAGCAAGCAAGTTCCTACAAGGGACTGCCCCCAAGCCATCCCTAGATTGGGCTGGTTGAGATTCCAAAGAAAGAAGCATTGAATTACAGGGTAATTAGTCCAGAGCATTTATTAGGGGAACTCACATACAGGGGAGAGCAGAGATGTTCTAGCTCAGTATGTGTGCAACAAGGGAGTCATATGAGTTATGGAGTTCACATGAGGACTGAAGGATTTGGGTGGGCTGGGGCTAGCTTCTATGTGTTTAACAATATGCTTGATCCCCCCGTGGGTTTTATTTTTGCTTTTGTTTTTGTTTGTGTGTGTGTGTATGTGACTGGGTCTTGCTCCATCACCTAGGCTGGAGGGCAGTGGCATGAACTTGGCTTACTGCAGCCTCTACCTCATGGGCTCTATCAGTCGTCCCACCTCAGCGTCCTGAGTAGCTGGGACCACAGGCACGCACCACCACGCCCAGCTAATTTTTATTTTTATTTTTTATTTTTTGGTAGAGGCAGAGTTTCGCCATGTTGCCCAGGCTGGTGTTGAACTCCTGGGCTCAAGTGATCCTCCCGCCTTGGCTTCCCACAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTAGGCCAATCCCTCAGTGTTTTGAGCAACAATCTAAGCAAGTTTATCAGTGTCTGGGAATGTTCAGCTTGGGCTCGAGCCTGCAGGGGAAACATGCAGCTGGCCGGGTCACAGGTGGTCAAGGCACCTGTGCTTCTCAGTCAGGACAGAGAAGAAAGCGGGTGGGTGGGGGGAATCGGGGAGACCCTACAGTAAGAGAGACCCCGCCTTCCCCATCCTCGCCTTGGTGCACAGATGATGCAGGTGATAGAGGAGTACATAGAGGACTACAACCAGATCAACACGGCCAAGCTGAAGCTGGCCTCTTCATGGACGCCATGAGCCACATCTGTCGCATCAGCCGCACCCTACGCCAGGCGCTGGGCAATGCACTCCTGCTGGGCGTGGGTGGCAGCGGCCGCAGCTCCCTCACAAGGCTCGCCTCGCACATGTGAGCGCCTCCAGGGCGTGCTGGGCAGTGGGCGGCCAGGGCTGGCTGGTCGGTTTGACTGACCCATGCTTTTGCACAGTGGTAGAGGCCTCGGGCAACCCTGAAGTAGGCCCGTGCAGCCTACAGGCTTCTGGAAAGACTAGTAGCAGGATCTGGGCTCCAGGGAGAGGCAGCAGCAGTGCCTGTGGTGCTGTAGGGAGGGAAGTGTGGTGCAGGCATCCCAGAGGGATTACTAGGGGAGGTGGCCAGGGCTGCTCTCAGAATCAGAGCTGGGAGGATGGAAGGGAAGGGCATTTGGACTGAGGGAACAACTTGGGCAAAGGTCTGAAGGCAAAAAAGCAGGTTCAGGGCCTGAAGGGTCTGCAGGTCTGCCCAGGATGGGAGCAGAATTCCAGGTGGTCAGGGTAGGGTGTGGTCACCCACCACCCTTCAGCGTCTGGCCCCAAGTCCCTGGCATGCTTCAACCCAAACTTCTGCCTCCAGGGCCGAGTACGAGTGCTTCCAGATTGAACTATCCAAGAACTACGGCATGTCCGAGTGGCGAGATGATGTGAAGAAGGTCCTGCTCAAGGCGGGCCTACAGAACCTACCCATCACCTTCCTCTTCTCAGACACCCAGGTGCCACTGCCACAGCAGAGGGCAGGGCTCGGGGGGGCTGGACACAACCCCATCTGAGCATAGCATCCCGGAAGGTGGCCAGTCCTTCATGCCCAGCTCACAGTCAGGGCAGATCTCAGAAGAGACCACCAGGACCAGGTGGGGCCACAGATGGGCAGGTTGAGAGCATGAGACCAAACCCAACCTCTCAGAGCTAAGGTGGGGTATAGATCATCACTCATGCCCCGAAGGTAAAGAAGGCCCTGGTAGCATAGCACCCCACTCACTGGCCAATGGTGTCCCACCTCAAGGACCACAGGGCTTGTCCCCAAAGTGCTAGGGACCCATGGCTTCCCTGCTCCCTCTTGGGATGGCATGAGGCTTCTCCCTAGATCTCTGAGAGGTTGTCTAGGGTCACACGACAGAACAGGCTTCAACCTGGCTGGTGGTCAGGGTTGGGCCCAGGGGCCCAGCCTGAAGCCCCTGAATGTGCCCCATCCTAGACAAAGGCCCCTCTGCTCCCAGCCCTGTCCCAACCCCAGAGCTCCCTTCAAGGCAGCCACTGTGAGTCAGGAAAGGGAGGATGCCATCTAACACAAGCCAGGCCCAGGCTGTATGAGATGGGCAAGGACCTATCTCTGCCCGTGGCCATGGTTTCCTCTTGTGAGTAAACTGAGACATGGAGAGGGGCGAAGAGGAAGATGCCACAACCCCCAGTGAGGACCCAGTGTCCTGCCACAACCCAGTGGTTTTCAGAGCTTCTACATGGGGGCAAGTCCTAGACTATGACTACAGGCTAGTCTGTTATGAGGTCACTTTTGTGACTCTGGGCTTCTCTGAGCCTTAGTGGTACAGTCTGTCAAATGGAGCTGTTGTGAAGGTCCAGCGAGACTGTGGTCATATAGTCCAACATGCAGGGGCTTAGCTCCCCACTCCTTCACCCCTCCCCAGATCAAGAACGAATCCTTCCTGGAAGATATCAACAACGTCCTAAACTCTGGTGACATTCCCAATCTGTATACTGCGGACGAGCAGGACCAGATCGTCAGCACCATGCGGCCCTATATCCAGGAGCAGGGCCTACAGCCCACCAAGGCCAACCTCATGGCTGCTTACACAGGGCGTGTGCGCAGCAACATCCACATGGTGCTGTGCATGAGGTACAGGCAGCTGTCGCCAGGCTGCGCTGGGGCAGCGGAGCTGGGTGTGTACATGGGCTGGCCCCGGGGACACTGGATGCCATGCGCTGGGGCCTGAGATGAGGAGACGCGGCCCTGGGCCTGGCCATCATGCCATTGGGCCCAGGCTGCTGTGCTGCTN
pathogenic
69,087
Is the genetic variant on chromosome 3, position 52393014, gene DNAH1 (dynein axonemal heavy chain 1), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Spermatogenic_failure_18']
TGGAGAACGGGGTCATCAACCAGTTTTCCCAGCGCTGGACCCACTTCATTGACCCTCAGAGCCAGGCCAACAAATGGATCAAGAACATGGTGAGCCCACCCACCAGGCACCACCACCCCACCCCAGCCAGGCATAGCAAGGGCAGTGGTGAGCCGCAGAGCCTCAGGCTGGCTCTCAGTCCCTGCAACCCCTTCTTTTCCCCTTCCCTTACAGGAGAAGGACAATGGGCTGGATGTGTTCAAGTTGAGTGACCGCGACTTCCTGCGCAGCATGGAGAACGCCATCCGCTTTGGCAAGCCATGTCTCCTGGAGAACGTGGGCGAGGAGCTAGACCCAGCCCTGGAGCCAGTGCTGCTCAAGCAGGTGGGTCTGCAGTGGTGATGGCAGGGTGGCAGTAGGCCTGGACAGGGCAGTCCCCTTCCCCTGCCCCACTGGTGATGCTCAGGCCACAGTACCCACCGGTCCCACCCACCACAGACGTACAAGCAGCAGGGAAACACGGTGCTGAAGCTGGGGGACACGGTGATCCCCTACCATGAGGACTTCAGGATGTACATCACCACCAAGCTGCCCAACCCACACTACACGCCCGAGATCTCCACCAAACTCACCCTCATCAACTTCACCCTGTCGCCCAGGTGAGCCCCCACTCTTGGGGACGCCCAAGCATCAGCTCTGCCTCTGCCTGCCCAGCTGCTCCTCTCCCACCCCCAGGCCGGGAGTCAGTGGGACTTTCCCCCACTCAAAGTCTCCACCAGTTTCACCCCAGGCACTCACATTCGAAGCCTTTCTAGCACTTCCACCAGCTCCTCCTACCCACTACTGTTTCCACCTAAGAACCTTCATCCCCACCTCATCCAGATCCCTGGTCAGGGTCCCCAGCCTCTGTGTCTAGCACCAGCCTCACCTCCTCCAGGGACCCCTTCTCTCCTACTGAGCCCTCGCCAGGCCCTGTGCCCTCATCCTCAGAGCTGACCCAGAGCCCTGAGTCGGGCACACTCTGGCTCTTTGAATCCAAATGCCCTGCTTCTTATCCTTGCTGCCACGAGCCTGGGCACTGTGGTTTTCGCTGGCCATCCATACACAGCCCACAGCCCATAGGCCTGCTTTGTGCTAAGGCCTCCATTTCAGTGGTCAGTGTGAACCTCTCCACAAAGCAGGGGGCAAAAACACCCTGAAGGCCTGCCCTGGGTATCACAGCCCCCACTTGCCAAGGAGGTATTGTCCAGAGACCCCAGCCGCTCACACATCCAACTGCTCAGCCCCTTCTAGGATTCCAGGCTGCCACCCAAGGTCTCACTGAGAACTGATGTCTTTGAAGGCAGGCTCTGCACTAGCCCTGCAGCCTGAGATGGAGGCTAGGCCTCCTAGGCCAACACTGGCAAGGATGCTGGGCTCTTGGAGCCCCAGAAGCACAGGTGGATGGGTGACCAGGTTCACGACTAGCCCTCCGGGGCCCACCAGGTATTACAGACTTGGTGTCCCCTGCCCCCGGCAGTGGCCTAGAGGACCAGCTACTGGGCCAGGTAGTGGCAGAGGAGCGACCCGACCTGGAGGAGGCCAAGAACCAGCTGATTATCAGTAATGCCAAGATGCGCCAGGAGCTGAAGGACATTGAGGACCAGATCCTGTACCGGCTCAGCTCCTCCGAGGGCAACCCTGTAGATGACATGGAACTCATCAAGGTGCTGGAAGCCTCCAAGATGAAGGCTGCTGAGATCCAGGTCAGCTGCTGCCTGCCCACCCACCTGCCCCGGGAGTGCCCCGGGCCTGCCCCCCACCTCTCCCTGCCTGCCCTAGGCCTGCCCCCCAAACCCCCTACCTTCTGCTCTTTGACCCCTCCCCCCACCCACTACACCCACAGGCCAAAGTCAGGATTGCAGAGCAGACGGAGAAGGACATCGACCTGACGCGCATGGAGTACATACCCGTGGCCATCCGCACCCAGATCCTCTTCTTCTGTGTGTCCGACCTGGCCAACGTGGACCCCATGTACCAGTACTCCCTTGAGTGGTTTCTCAACATCTTCCTCTCGGGCATCGCCAACTCAGAGAGAGCAGGTAGCACCGGCATGCCAGGCTCCTACCCTGCACAGATATGACCCATGTGGACACATTTCCACTGTGGGGCACACACAAACTCACAACTGTGTTCACTGGCGTACACTCTCCTCTTAGACTCACAATACATAAGAATGCACACAGCACGCCTACCCTCCTCCGAGCCCCTTCACTGGGAACACCAAGTGCCCAAGAGGAGGCCCAGGCTGCCCCTACGGCTGCTGGGGAGACTGGCTAGGCTGGGCTGGACCCCGGGGCTCTTCCTTCCTCTCACCTCTCCGCGCTGCCATCACTTCTCCACTCCACAGACAACCTGAAGAAGCGCATCTCCAACATCAACCGCTACCTGACCTACAGCCTCTACAGCAACGTCTGCCGCAGCCTCTTTGAGAAGCACAAGCTGATGTTTGCCTTCCTGCTGTGTGTTCGCATCATGATGAACGAGGGCAAAATCAACCAGGTGCTGGCAGAGACACCCAGGACAGACTGCCTGAGGGGTGGCCCTGTGGCAGGGCCTGAGAACAGGGTGGAAGGAAAGGGAAAGCCAGGCATGAAGGCACCGCGAGAGCAAAGTGGCAGAGGAAACAATTCCTTGATTAAAAGCAGCCAGGGCCGGGCACGGTGACTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACTTGAGGCCAGGAGTTCAAGACCACCCTGGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGTGGAGGTTGCAGTGGGCTGAGATCGTGCCACTGCACTCCAGCCTGGAAGACAGAGCGATATTCTGTCTCAAAATAAATAAATAAAAGCAGCCAGAAGACCCTGGGTTAATTGTGCTCCAACCAATGGCTCAAGGTTCAAGAAGGCCAATGTTGTGAGCACAGGCCTTCTCGAGCCTTGAGTGTGCTGGTGAGCACAAAGACTGTCCCCAGGGACGGACTGTCCTGAGCCTCCCACACCTGCTTGGCCAGGAACTCACACTCTCATGAAGCCCTATGCATTTCGTGGTGCAGCGGAAAGCCCTGCCGAGACAGTGAGAGTGACAGCCACCACTGTCAGAGCCCTAACTGCGTGCCTGGCACAGGACTCTGGCCTGGGAAGCAGTCAGCCTTCTGATTCTTTCTACTCCCAAATGAGGAGGCAGAGGCCCAGAGAAGTCACATCTCTTGCCCTAAGGGCACACAGCCAGGAAAAGGCAGGGTGGGAACACTAACCCAGACCTGTTTGACTACCATCCCCAAGGGAGACTCAGTTTCTCCAGGTGAGGGTGGTTAGAGAGGCACTACTGGGTGGGGGTGCCCAGAGCAGGAGGAGCTGGCCAGGGCCTGGGCATCAGCCTCCTCCTGTCCCCTGCCAGAGTGAGTGGCGATACCTCCTGTCTGGGGGCTCCATCTCGATCATGACTGAGAATCCGGCACCGGACTGGCTGTCAGACCGGGCTTGGCGAGACATCCTAGCACTCTCGAACCTGCCAACCTTTTCCTCCTTCTCTTCCGACTTCGTGAAGCACCTCTCAGAATTCCGGGTCATCTTCGACAGCCTTGAGCCCCACCGGTTAGCTGGGCCCCAGAATATGGCAGGATGAGCCCATCGAGGGGATGAGTCCCTAGGAAAGGCTTGTCTGGGCGCCTTCTCTAAGGGGCCACCCAGGGTTGCCCTGTGGCTGTGGCCACATCTCCTCTGTGCCTCCAGTGCCATACCCCTGGGATAGCCCACTCTCCCCAGCTGTCCGGCTGGCCGAATCCCTGGGGCCACCAACCTCCTTCCAACAGGCTGGCTCTCAGGGAGGTGTGGGCCACTGTTGCAGGGAGCCTTTGCCTGGCATCTGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAGGC
TGGAGAACGGGGTCATCAACCAGTTTTCCCAGCGCTGGACCCACTTCATTGACCCTCAGAGCCAGGCCAACAAATGGATCAAGAACATGGTGAGCCCACCCACCAGGCACCACCACCCCACCCCAGCCAGGCATAGCAAGGGCAGTGGTGAGCCGCAGAGCCTCAGGCTGGCTCTCAGTCCCTGCAACCCCTTCTTTTCCCCTTCCCTTACAGGAGAAGGACAATGGGCTGGATGTGTTCAAGTTGAGTGACCGCGACTTCCTGCGCAGCATGGAGAACGCCATCCGCTTTGGCAAGCCATGTCTCCTGGAGAACGTGGGCGAGGAGCTAGACCCAGCCCTGGAGCCAGTGCTGCTCAAGCAGGTGGGTCTGCAGTGGTGATGGCAGGGTGGCAGTAGGCCTGGACAGGGCAGTCCCCTTCCCCTGCCCCACTGGTGATGCTCAGGCCACAGTACCCACCGGTCCCACCCACCACAGACGTACAAGCAGCAGGGAAACACGGTGCTGAAGCTGGGGGACACGGTGATCCCCTACCATGAGGACTTCAGGATGTACATCACCACCAAGCTGCCCAACCCACACTACACGCCCGAGATCTCCACCAAACTCACCCTCATCAACTTCACCCTGTCGCCCAGGTGAGCCCCCACTCTTGGGGACGCCCAAGCATCAGCTCTGCCTCTGCCTGCCCAGCTGCTCCTCTCCCACCCCCAGGCCGGGAGTCAGTGGGACTTTCCCCCACTCAAAGTCTCCACCAGTTTCACCCCAGGCACTCACATTCGAAGCCTTTCTAGCACTTCCACCAGCTCCTCCTACCCACTACTGTTTCCACCTAAGAACCTTCATCCCCACCTCATCCAGATCCCTGGTCAGGGTCCCCAGCCTCTGTGTCTAGCACCAGCCTCACCTCCTCCAGGGACCCCTTCTCTCCTACTGAGCCCTCGCCAGGCCCTGTGCCCTCATCCTCAGAGCTGACCCAGAGCCCTGAGTCGGGCACACTCTGGCTCTTTGAATCCAAATGCCCTGCTTCTTATCCTTGCTGCCACGAGCCTGGGCACTGTGGTTTTCGCTGGCCATCCATACACAGCCCACAGCCCATAGGCCTGCTTTGTGCTAAGGCCTCCATTTCAGTGGTCAGTGTGAACCTCTCCACAAAGCAGGGGGCAAAAACACCCTGAAGGCCTGCCCTGGGTATCACAGCCCCCACTTGCCAAGGAGGTATTGTCCAGAGACCCCAGCCGCTCACACATCCAACTGCTCAGCCCCTTCTAGGATTCCAGGCTGCCACCCAAGGTCTCACTGAGAACTGATGTCTTTGAAGGCAGGCTCTGCACTAGCCCTGCAGCCTGAGATGGAGGCTAGGCCTCCTAGGCCAACACTGGCAAGGATGCTGGGCTCTTGGAGCCCCAGAAGCACAGGTGGATGGGTGACCAGGTTCACGACTAGCCCTCCGGGGCCCACCAGGTATTACAGACTTGGTGTCCCCTGCCCCCGGCAGTGGCCTAGAGGACCAGCTACTGGGCCAGGTAGTGGCAGAGGAGCGACCCGACCTGGAGGAGGCCAAGAACCAGCTGATTATCAGTAATGCCAAGATGCGCCAGGAGCTGAAGGACATTGAGGACCAGATCCTGTACCGGCTCAGCTCCTCCGAGGGCAACCCTGTAGATGACATGGAACTCATCAAGGTGCTGGAAGCCTCCAAGATGAAGGCTGCTGAGATCCAGGTCAGCTGCTGCCTGCCCACCCACCTGCCCCGGGAGTGCCCCGGGCCTGCCCCCCACCTCTCCCTGCCTGCCCTAGGCCTGCCCCCCAAACCCCCTACCTTCTGCTCTTTGACCCCTCCCCCCACCCACTACACCCACAGGCCAAAGTCAGGATTGCAGAGCAGACGGAGAAGGACATCGACCTGACGCGCATGGAGTACATACCCGTGGCCATCCGCACCCAGATCCTCTTCTTCTGTGTGTCCGACCTGGCCAACGTGGACCCCATGTACCAGTACTCCCTTGAGTGGTTTCTCAACATCTTCCTCTCGGGCATCGCCAACTCAGAGCAGGTAGCACCGGCATGCCAGGCTCCTACCCTGCACAGATATGACCCATGTGGACACATTTCCACTGTGGGGCACACACAAACTCACAACTGTGTTCACTGGCGTACACTCTCCTCTTAGACTCACAATACATAAGAATGCACACAGCACGCCTACCCTCCTCCGAGCCCCTTCACTGGGAACACCAAGTGCCCAAGAGGAGGCCCAGGCTGCCCCTACGGCTGCTGGGGAGACTGGCTAGGCTGGGCTGGACCCCGGGGCTCTTCCTTCCTCTCACCTCTCCGCGCTGCCATCACTTCTCCACTCCACAGACAACCTGAAGAAGCGCATCTCCAACATCAACCGCTACCTGACCTACAGCCTCTACAGCAACGTCTGCCGCAGCCTCTTTGAGAAGCACAAGCTGATGTTTGCCTTCCTGCTGTGTGTTCGCATCATGATGAACGAGGGCAAAATCAACCAGGTGCTGGCAGAGACACCCAGGACAGACTGCCTGAGGGGTGGCCCTGTGGCAGGGCCTGAGAACAGGGTGGAAGGAAAGGGAAAGCCAGGCATGAAGGCACCGCGAGAGCAAAGTGGCAGAGGAAACAATTCCTTGATTAAAAGCAGCCAGGGCCGGGCACGGTGACTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACTTGAGGCCAGGAGTTCAAGACCACCCTGGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGTGGAGGTTGCAGTGGGCTGAGATCGTGCCACTGCACTCCAGCCTGGAAGACAGAGCGATATTCTGTCTCAAAATAAATAAATAAAAGCAGCCAGAAGACCCTGGGTTAATTGTGCTCCAACCAATGGCTCAAGGTTCAAGAAGGCCAATGTTGTGAGCACAGGCCTTCTCGAGCCTTGAGTGTGCTGGTGAGCACAAAGACTGTCCCCAGGGACGGACTGTCCTGAGCCTCCCACACCTGCTTGGCCAGGAACTCACACTCTCATGAAGCCCTATGCATTTCGTGGTGCAGCGGAAAGCCCTGCCGAGACAGTGAGAGTGACAGCCACCACTGTCAGAGCCCTAACTGCGTGCCTGGCACAGGACTCTGGCCTGGGAAGCAGTCAGCCTTCTGATTCTTTCTACTCCCAAATGAGGAGGCAGAGGCCCAGAGAAGTCACATCTCTTGCCCTAAGGGCACACAGCCAGGAAAAGGCAGGGTGGGAACACTAACCCAGACCTGTTTGACTACCATCCCCAAGGGAGACTCAGTTTCTCCAGGTGAGGGTGGTTAGAGAGGCACTACTGGGTGGGGGTGCCCAGAGCAGGAGGAGCTGGCCAGGGCCTGGGCATCAGCCTCCTCCTGTCCCCTGCCAGAGTGAGTGGCGATACCTCCTGTCTGGGGGCTCCATCTCGATCATGACTGAGAATCCGGCACCGGACTGGCTGTCAGACCGGGCTTGGCGAGACATCCTAGCACTCTCGAACCTGCCAACCTTTTCCTCCTTCTCTTCCGACTTCGTGAAGCACCTCTCAGAATTCCGGGTCATCTTCGACAGCCTTGAGCCCCACCGGTTAGCTGGGCCCCAGAATATGGCAGGATGAGCCCATCGAGGGGATGAGTCCCTAGGAAAGGCTTGTCTGGGCGCCTTCTCTAAGGGGCCACCCAGGGTTGCCCTGTGGCTGTGGCCACATCTCCTCTGTGCCTCCAGTGCCATACCCCTGGGATAGCCCACTCTCCCCAGCTGTCCGGCTGGCCGAATCCCTGGGGCCACCAACCTCCTTCCAACAGGCTGGCTCTCAGGGAGGTGTGGGCCACTGTTGCAGGGAGCCTTTGCCTGGCATCTGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAGGCNNNN
pathogenic
69,120
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 3, position 52396924, gene DNAH1 (dynein axonemal heavy chain 1). What disease(s) is it linked to if pathogenic?
pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Primary_ciliary_dyskinesia', 'Spermatogenic_failure_18']
ACAGGCTGGCTCTCAGGGAGGTGTGGGCCACTGTTGCAGGGAGCCTTTGCCTGGCATCTGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAGGCAAGTGCTGGAACCCTGGCAGGACTGGCACCTTGAGCTTGTCCCCACCCTGGGTCCCAGGGCCCTGGCTGCATCTGGATAGACTACTTGGCCAGGCCAGGACCCCTGCTTGCTCCCTAAAGGCTCTGAGGTTCCAGCCCCCACCAGGAAGCCCACTGGGGACCACTCTGAGAACCCCAGATCCCCCTCCCTTGCCCCGATCTCTCTGCAGCCCCAGGTGGTCTCAGCATCTCCCCCTGCCCTTGCAGACAGCCAATCTGTCAGTGGTGTTCAAAGACTCCAACTCCACCACACCCCTCATCTTTGTGCTGTCACCCGGCACAGACCCTGCTGCCGACCTCTACAAGTTTGCCGAAGAAATGAAGTTCTCCAAAAAGCTCTCTGCCATCTCCCTGGGCCAGGGGCAGGTCAGGGCTAGGCAGGGAGGAAGGGAGTGGGCTGGGGGGTGGGCAAGCTGGCCCCCTGCTCAGTGCTCTTGCCCCTGCAGGGCCCTCGGGCAGAAGCCATGATGCGCAGCTCCATAGAGAGGGGCAAATGGGTCTTCTTCCAGAACTGCCACCTGGCACCAAGCTGGATGCCAGCCCTAGAACGCCTCATCGAGCACATCAACCCCGACAAGGTGTGTTGCCCTGCCCATCACAGACCCAGTGGGGCCGCCTCTGCATCCATCAGGGACTAATGAGGCAGAAATAAGAGAATCATGCCAAGCACTCTGCCCAGCCTCTAGCACGTGGCAAGTGCTCAGCAACTGACATGTGCCACACATCGACATCATTAATCCTCTCAATCCACCCCCACCCCCAGTTACCTGTACAAGCGGTGATGTGACTTGTCCAGGGACACCCAGCACAGACCGTGACCTGGGACTTGCCAAAGCCCTTTTTTTTTTTTTTTTTTCAGACGGAGTCTCACTCTGTCACCGGGGCTGGGGTGCAGTGGTGCAATCTCGGTTCACTGCAACCTCCACCTCCTGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGTAGTAACCCGCCACTATGCCCAGCTAATTTTTTGTATTTTTAGTGGAGATGGCATTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCGTGATTCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCCAGCCAAAAGCCCAATTCTTAACCAGTTGTCTGTGCAGCCTCGCCTGACCCACCTCAGGGTCCCTGGGCAGGAGGGAGCCTGGTGTCAGGGTGGCCACCAGATATGGGTCTCAATGCTCACGTGGAGCCATGGCCACCAGGTACACAGGGACTTCCGCCTCTGGCTCACCAGCCTGCCCAGCAACAAGTTCCCAGTGTCCATCCTGCAGAACGGCTCCAAGATGACCATTGAGCCGCCACGCGGTGTCAGGGCCAACCTGCTGAAGTCCTATAGTAGCCTTGGTGAAGACTTCCTCAACTCCTGCCACAAGGTGAGGCACACTTGGTGCAGGCCTACCCTACCTGCCCCCGTCCCCGCTCCTCACCTCCCCTGCCTCCCACCTCCCCCAGGTGATGGAGTTCAAGTCTCTGCTGCTGTCTCTGTGCTTGTTCCATGGGAACGCCCTGGAGCGCCGTAAGTTTGGGCCCCTGGGCTTCAACATCCCCTATGAGTTCACGGATGGAGATCTGCGCATCTGCATCAGCCAGCTCAAGATGTTCCTGGACGAATATGATGACATCCCCTACAAGGTGGGCCTGGGGCAGACTGGGGCCTGGGGGACTGGGCACTTAGGGGAGCCCTCACCCACCCACCCCATAGGTCCTCAAGTACACGGCAGGGGAGATCAATTACGGGGGCCGTGTCACTGATGACTGGGACCGGCGCTGCATCATGAACATCTTGGAGGACTTCTACAACCCTGACGTGCTCTCCCCTGAGCACAGCTACAGCGCCTCGGGCATCTACCACCAGATCCCGCCTACCTACGACCTCCACGTGAGTCCAGCCCAAAGGGCTGCACAGGAGGGGCCTGCCAGCCTGGGGTTCTGGGGTACCATGAGCACCTTGGTGCTGGGTGGGAGGAGATGCAGCCCCCACCCTCCATCAGCTGTCTTTTCATCAGTCAATCCATCCCATCCCACAAAGACAGCCTTGGCGAGGGAGTCAGACCCTGCCCACTGGGGCTTGCCTCTGTGAGTGAACTCCTGGTCAGCCACTCCCTGGGTGGAATTACTCAGTGAAGGCTTGGGGCAGCTCCTCCAAGGCAGTAACCAGGCCCAGACTCCACAGTCAGGGAGGGCTGCCACAGAAATGATGCTTCCCCTAAGATGTGTGAGGAGAAGCCATGAGCCAGGGCTGGGTTGTGTGGGTCATCAGTGCAAAGGGCCTGTGGCAGGAGGGAGCCTGACAAATTTGGGCCACTGAATAGAGGGGCAGGGAATGGATGGCAGTAACAAGGAGGCTGGGAGGGAAGCAAGGGCCACACCACACAGTGCCTCAGAGGCCTGGAGTCCCAAGAGCAGGGACATGCATAAGGGTTATGAGCAGGAGTGACAAGTGGGGAATGTGACAAGTGGGGATGTGCTCCATTGGAGGGTAACTCTGAGGGCTGGGGCAGAGCAAGCCAGGGGCTTCCATGTTGGCCTCCTCTCTCCTAGGGCTACCTCTCCTACATCAAGAGCCTCCCACTCAATGATATGCCTGAGATCTTTGGCCTGCATGACAATGCCAACATCACCTTTGCCCAGAACGAGACGTTCGCCCTCCTGGGCACCATCATCCAGCTGCAACCCAAATCATCTTCTGCAGGCAGCCAGGGCCGGGAGGAGGTGGGTGGTGTCAGAGTAAGGGGCCCAAGGGCTGGACGGGCTGGGCTTCACCATCCTGCCCACTCCCCTGTGGGAAGGACCCCTATGCATGTGGAATCCCACAGGGGATAAGGGGGCCCAGCCTTGACCCCACAGTATTCCTTTGCCCCTGCAGATAGTGGAGGACGTCACCCAAAACATTCTGCTCAAGGTGCCTGAGCCTATCAACTTGCAATGGGTGATGGCCAAGTACCCAGTGCTGTATGAGGAATCAATGAACACAGTACTAGTACAAGAGGTCATTAGGTAATCACCCCGCCATACCCCTGCCCCGAGTCAGCGGCCACTGGACTGTAGAGAAATGACAACAGGGGTTACTATGGGCCAGGTGCCATGCCAAGTGCTACACATCCTCTAACTCAGCTATTTTTTGTTGTTGTTGTTGACACGGAGTCTCTCTCTGTTGCCATGCTGGAGTGCAGCGGTATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAATAGCTGGGACTATAGGCGCACACCACCTAATTAGCGCGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCAACTCAGCCATATTTTTATTATTCACATTTTGTAGACGAGTAAACTGTGACCCCAAAATGTTCCGTAAGCTATCCAAGTCCAACTTCACACATGTGCTAAGGGCCAGAGCTGGGATTTGTACCCAGGCCACCTGACCCAGCTCTCTGCTCTTAGCCTCTATGTTTTGCCATTGTTTTTCACTCTGTGGCCTTGAGCTGCGGAGCATAGCTACTGCCACGTGACCCCAGCCCACTACCTATTCTCTTGCCACTGGCCTCACAGGTACAATCGGCTGCTGCAGGTGATCACACAGACACTGCAAGACCTACTCAAGGCACTCAAGGGGCTGGTAGTGATGTCCTCTCAGCTGGAGCTGATGGCTGCCAGCCTGTACAACAATACTG
ACAGGCTGGCTCTCAGGGAGGTGTGGGCCACTGTTGCAGGGAGCCTTTGCCTGGCATCTGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAGGCAAGTGCTGGAACCCTGGCAGGACTGGCACCTTGAGCTTGTCCCCACCCTGGGTCCCAGGGCCCTGGCTGCATCTGGATAGACTACTTGGCCAGGCCAGGACCCCTGCTTGCTCCCTAAAGGCTCTGAGGTTCCAGCCCCCACCAGGAAGCCCACTGGGGACCACTCTGAGAACCCCAGATCCCCCTCCCTTGCCCCGATCTCTCTGCAGCCCCAGGTGGTCTCAGCATCTCCCCCTGCCCTTGCAGACAGCCAATCTGTCAGTGGTGTTCAAAGACTCCAACTCCACCACACCCCTCATCTTTGTGCTGTCACCCGGCACAGACCCTGCTGCCGACCTCTACAAGTTTGCCGAAGAAATGAAGTTCTCCAAAAAGCTCTCTGCCATCTCCCTGGGCCAGGGGCAGGTCAGGGCTAGGCAGGGAGGAAGGGAGTGGGCTGGGGGGTGGGCAAGCTGGCCCCCTGCTCAGTGCTCTTGCCCCTGCAGGGCCCTCGGGCAGAAGCCATGATGCGCAGCTCCATAGAGAGGGGCAAATGGGTCTTCTTCCAGAACTGCCACCTGGCACCAAGCTGGATGCCAGCCCTAGAACGCCTCATCGAGCACATCAACCCCGACAAGGTGTGTTGCCCTGCCCATCACAGACCCAGTGGGGCCGCCTCTGCATCCATCAGGGACTAATGAGGCAGAAATAAGAGAATCATGCCAAGCACTCTGCCCAGCCTCTAGCACGTGGCAAGTGCTCAGCAACTGACATGTGCCACACATCGACATCATTAATCCTCTCAATCCACCCCCACCCCCAGTTACCTGTACAAGCGGTGATGTGACTTGTCCAGGGACACCCAGCACAGACCGTGACCTGGGACTTGCCAAAGCCCTTTTTTTTTTTTTTTTTTCAGACGGAGTCTCACTCTGTCACCGGGGCTGGGGTGCAGTGGTGCAATCTCGGTTCACTGCAACCTCCACCTCCTGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGTAGTAACCCGCCACTATGCCCAGCTAATTTTTTGTATTTTTAGTGGAGATGGCATTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCGTGATTCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCCAGCCAAAAGCCCAATTCTTAACCAGTTGTCTGTGCAGCCTCGCCTGACCCACCTCAGGGTCCCTGGGCAGGAGGGAGCCTGGTGTCAGGGTGGCCACCAGATATGGGTCTCAATGCTCACGTGGAGCCATGGCCACCAGGTACACAGGGACTTCCGCCTCTGGCTCACCAGCCTGCCCAGCAACAAGTTCCCAGTGTCCATCCTGCAGAACGGCTCCAAGATGACCATTGAGCCGCCACGCGGTGTCAGGGCCAACCTGCTGAAGTCCTATAGTAGCCTTGGTGAAGACTTCCTCAACTCCTGCCACAAGGTGAGGCACACTTGGTGCAGGCCTACCCTACCTGCCCCCGTCCCCGCTCCTCACCTCCCCTGCCTCCCACCTCCCCCAGGTGATGGAGTTCAAGTCTCTGCTGCTGTCTCTGTGCTTGTTCCATGGGAACGCCCTGGAGCGCCGTAAGTTTGGGCCCCTGGGCTTCAACATCCCCTATGAGTTCACGGATGGAGATCTGCGCATCTGCATCAGCCAGCTCAAGATGTTCCTGGACGAATATGATGACATCCCCTACAAGGTGGGCCTGGGGCAGACTGGGGCCTGGGGGACTGGGCACTTAGGGGAGCCCTCACCCACCCACCCCATAGGTCCTCAAGTACACGGCAGGGGAGATCAATTACGGGGGCCGTGTCACTGATGACTGGCGACCGGCGCTGCATCATGAACATCTTGGAGGACTTCTACAACCCTGACGTGCTCTCCCCTGAGCACAGCTACAGCGCCTCGGGCATCTACCACCAGATCCCGCCTACCTACGACCTCCACGTGAGTCCAGCCCAAAGGGCTGCACAGGAGGGGCCTGCCAGCCTGGGGTTCTGGGGTACCATGAGCACCTTGGTGCTGGGTGGGAGGAGATGCAGCCCCCACCCTCCATCAGCTGTCTTTTCATCAGTCAATCCATCCCATCCCACAAAGACAGCCTTGGCGAGGGAGTCAGACCCTGCCCACTGGGGCTTGCCTCTGTGAGTGAACTCCTGGTCAGCCACTCCCTGGGTGGAATTACTCAGTGAAGGCTTGGGGCAGCTCCTCCAAGGCAGTAACCAGGCCCAGACTCCACAGTCAGGGAGGGCTGCCACAGAAATGATGCTTCCCCTAAGATGTGTGAGGAGAAGCCATGAGCCAGGGCTGGGTTGTGTGGGTCATCAGTGCAAAGGGCCTGTGGCAGGAGGGAGCCTGACAAATTTGGGCCACTGAATAGAGGGGCAGGGAATGGATGGCAGTAACAAGGAGGCTGGGAGGGAAGCAAGGGCCACACCACACAGTGCCTCAGAGGCCTGGAGTCCCAAGAGCAGGGACATGCATAAGGGTTATGAGCAGGAGTGACAAGTGGGGAATGTGACAAGTGGGGATGTGCTCCATTGGAGGGTAACTCTGAGGGCTGGGGCAGAGCAAGCCAGGGGCTTCCATGTTGGCCTCCTCTCTCCTAGGGCTACCTCTCCTACATCAAGAGCCTCCCACTCAATGATATGCCTGAGATCTTTGGCCTGCATGACAATGCCAACATCACCTTTGCCCAGAACGAGACGTTCGCCCTCCTGGGCACCATCATCCAGCTGCAACCCAAATCATCTTCTGCAGGCAGCCAGGGCCGGGAGGAGGTGGGTGGTGTCAGAGTAAGGGGCCCAAGGGCTGGACGGGCTGGGCTTCACCATCCTGCCCACTCCCCTGTGGGAAGGACCCCTATGCATGTGGAATCCCACAGGGGATAAGGGGGCCCAGCCTTGACCCCACAGTATTCCTTTGCCCCTGCAGATAGTGGAGGACGTCACCCAAAACATTCTGCTCAAGGTGCCTGAGCCTATCAACTTGCAATGGGTGATGGCCAAGTACCCAGTGCTGTATGAGGAATCAATGAACACAGTACTAGTACAAGAGGTCATTAGGTAATCACCCCGCCATACCCCTGCCCCGAGTCAGCGGCCACTGGACTGTAGAGAAATGACAACAGGGGTTACTATGGGCCAGGTGCCATGCCAAGTGCTACACATCCTCTAACTCAGCTATTTTTTGTTGTTGTTGTTGACACGGAGTCTCTCTCTGTTGCCATGCTGGAGTGCAGCGGTATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAATAGCTGGGACTATAGGCGCACACCACCTAATTAGCGCGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCAACTCAGCCATATTTTTATTATTCACATTTTGTAGACGAGTAAACTGTGACCCCAAAATGTTCCGTAAGCTATCCAAGTCCAACTTCACACATGTGCTAAGGGCCAGAGCTGGGATTTGTACCCAGGCCACCTGACCCAGCTCTCTGCTCTTAGCCTCTATGTTTTGCCATTGTTTTTCACTCTGTGGCCTTGAGCTGCGGAGCATAGCTACTGCCACGTGACCCCAGCCCACTACCTATTCTCTTGCCACTGGCCTCACAGGTACAATCGGCTGCTGCAGGTGATCACACAGACACTGCAAGACCTACTCAAGGCACTCAAGGGGCTGGTAGTGATGTCCTCTCAGCTGGAGCTGATGGCTGCCAGCCTGTACAACAATACT
pathogenic
69,135
Mutation at chromosome 3, position 52396982, within DNAH1 (dynein axonemal heavy chain 1): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Primary_ciliary_dyskinesia', 'Spermatogenic_failure_18']
TGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAGGCAAGTGCTGGAACCCTGGCAGGACTGGCACCTTGAGCTTGTCCCCACCCTGGGTCCCAGGGCCCTGGCTGCATCTGGATAGACTACTTGGCCAGGCCAGGACCCCTGCTTGCTCCCTAAAGGCTCTGAGGTTCCAGCCCCCACCAGGAAGCCCACTGGGGACCACTCTGAGAACCCCAGATCCCCCTCCCTTGCCCCGATCTCTCTGCAGCCCCAGGTGGTCTCAGCATCTCCCCCTGCCCTTGCAGACAGCCAATCTGTCAGTGGTGTTCAAAGACTCCAACTCCACCACACCCCTCATCTTTGTGCTGTCACCCGGCACAGACCCTGCTGCCGACCTCTACAAGTTTGCCGAAGAAATGAAGTTCTCCAAAAAGCTCTCTGCCATCTCCCTGGGCCAGGGGCAGGTCAGGGCTAGGCAGGGAGGAAGGGAGTGGGCTGGGGGGTGGGCAAGCTGGCCCCCTGCTCAGTGCTCTTGCCCCTGCAGGGCCCTCGGGCAGAAGCCATGATGCGCAGCTCCATAGAGAGGGGCAAATGGGTCTTCTTCCAGAACTGCCACCTGGCACCAAGCTGGATGCCAGCCCTAGAACGCCTCATCGAGCACATCAACCCCGACAAGGTGTGTTGCCCTGCCCATCACAGACCCAGTGGGGCCGCCTCTGCATCCATCAGGGACTAATGAGGCAGAAATAAGAGAATCATGCCAAGCACTCTGCCCAGCCTCTAGCACGTGGCAAGTGCTCAGCAACTGACATGTGCCACACATCGACATCATTAATCCTCTCAATCCACCCCCACCCCCAGTTACCTGTACAAGCGGTGATGTGACTTGTCCAGGGACACCCAGCACAGACCGTGACCTGGGACTTGCCAAAGCCCTTTTTTTTTTTTTTTTTTCAGACGGAGTCTCACTCTGTCACCGGGGCTGGGGTGCAGTGGTGCAATCTCGGTTCACTGCAACCTCCACCTCCTGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGTAGTAACCCGCCACTATGCCCAGCTAATTTTTTGTATTTTTAGTGGAGATGGCATTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCGTGATTCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCCAGCCAAAAGCCCAATTCTTAACCAGTTGTCTGTGCAGCCTCGCCTGACCCACCTCAGGGTCCCTGGGCAGGAGGGAGCCTGGTGTCAGGGTGGCCACCAGATATGGGTCTCAATGCTCACGTGGAGCCATGGCCACCAGGTACACAGGGACTTCCGCCTCTGGCTCACCAGCCTGCCCAGCAACAAGTTCCCAGTGTCCATCCTGCAGAACGGCTCCAAGATGACCATTGAGCCGCCACGCGGTGTCAGGGCCAACCTGCTGAAGTCCTATAGTAGCCTTGGTGAAGACTTCCTCAACTCCTGCCACAAGGTGAGGCACACTTGGTGCAGGCCTACCCTACCTGCCCCCGTCCCCGCTCCTCACCTCCCCTGCCTCCCACCTCCCCCAGGTGATGGAGTTCAAGTCTCTGCTGCTGTCTCTGTGCTTGTTCCATGGGAACGCCCTGGAGCGCCGTAAGTTTGGGCCCCTGGGCTTCAACATCCCCTATGAGTTCACGGATGGAGATCTGCGCATCTGCATCAGCCAGCTCAAGATGTTCCTGGACGAATATGATGACATCCCCTACAAGGTGGGCCTGGGGCAGACTGGGGCCTGGGGGACTGGGCACTTAGGGGAGCCCTCACCCACCCACCCCATAGGTCCTCAAGTACACGGCAGGGGAGATCAATTACGGGGGCCGTGTCACTGATGACTGGGACCGGCGCTGCATCATGAACATCTTGGAGGACTTCTACAACCCTGACGTGCTCTCCCCTGAGCACAGCTACAGCGCCTCGGGCATCTACCACCAGATCCCGCCTACCTACGACCTCCACGTGAGTCCAGCCCAAAGGGCTGCACAGGAGGGGCCTGCCAGCCTGGGGTTCTGGGGTACCATGAGCACCTTGGTGCTGGGTGGGAGGAGATGCAGCCCCCACCCTCCATCAGCTGTCTTTTCATCAGTCAATCCATCCCATCCCACAAAGACAGCCTTGGCGAGGGAGTCAGACCCTGCCCACTGGGGCTTGCCTCTGTGAGTGAACTCCTGGTCAGCCACTCCCTGGGTGGAATTACTCAGTGAAGGCTTGGGGCAGCTCCTCCAAGGCAGTAACCAGGCCCAGACTCCACAGTCAGGGAGGGCTGCCACAGAAATGATGCTTCCCCTAAGATGTGTGAGGAGAAGCCATGAGCCAGGGCTGGGTTGTGTGGGTCATCAGTGCAAAGGGCCTGTGGCAGGAGGGAGCCTGACAAATTTGGGCCACTGAATAGAGGGGCAGGGAATGGATGGCAGTAACAAGGAGGCTGGGAGGGAAGCAAGGGCCACACCACACAGTGCCTCAGAGGCCTGGAGTCCCAAGAGCAGGGACATGCATAAGGGTTATGAGCAGGAGTGACAAGTGGGGAATGTGACAAGTGGGGATGTGCTCCATTGGAGGGTAACTCTGAGGGCTGGGGCAGAGCAAGCCAGGGGCTTCCATGTTGGCCTCCTCTCTCCTAGGGCTACCTCTCCTACATCAAGAGCCTCCCACTCAATGATATGCCTGAGATCTTTGGCCTGCATGACAATGCCAACATCACCTTTGCCCAGAACGAGACGTTCGCCCTCCTGGGCACCATCATCCAGCTGCAACCCAAATCATCTTCTGCAGGCAGCCAGGGCCGGGAGGAGGTGGGTGGTGTCAGAGTAAGGGGCCCAAGGGCTGGACGGGCTGGGCTTCACCATCCTGCCCACTCCCCTGTGGGAAGGACCCCTATGCATGTGGAATCCCACAGGGGATAAGGGGGCCCAGCCTTGACCCCACAGTATTCCTTTGCCCCTGCAGATAGTGGAGGACGTCACCCAAAACATTCTGCTCAAGGTGCCTGAGCCTATCAACTTGCAATGGGTGATGGCCAAGTACCCAGTGCTGTATGAGGAATCAATGAACACAGTACTAGTACAAGAGGTCATTAGGTAATCACCCCGCCATACCCCTGCCCCGAGTCAGCGGCCACTGGACTGTAGAGAAATGACAACAGGGGTTACTATGGGCCAGGTGCCATGCCAAGTGCTACACATCCTCTAACTCAGCTATTTTTTGTTGTTGTTGTTGACACGGAGTCTCTCTCTGTTGCCATGCTGGAGTGCAGCGGTATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAATAGCTGGGACTATAGGCGCACACCACCTAATTAGCGCGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCAACTCAGCCATATTTTTATTATTCACATTTTGTAGACGAGTAAACTGTGACCCCAAAATGTTCCGTAAGCTATCCAAGTCCAACTTCACACATGTGCTAAGGGCCAGAGCTGGGATTTGTACCCAGGCCACCTGACCCAGCTCTCTGCTCTTAGCCTCTATGTTTTGCCATTGTTTTTCACTCTGTGGCCTTGAGCTGCGGAGCATAGCTACTGCCACGTGACCCCAGCCCACTACCTATTCTCTTGCCACTGGCCTCACAGGTACAATCGGCTGCTGCAGGTGATCACACAGACACTGCAAGACCTACTCAAGGCACTCAAGGGGCTGGTAGTGATGTCCTCTCAGCTGGAGCTGATGGCTGCCAGCCTGTACAACAATACTGTGCCTGAGCTCTGGAGTGCCAAGGCCTACCCATCGCTCAAGCCTCTGTCATCATGGGT
TGGGACCAGTACCTAGACCAGTTCCAGAAGCTGCTAGTCCTCCGCTGCCTGCGTGGGGACAAGGTTACCAACGCCATGCAGGACTTTGTGGCCACCAACCTGGAGCCACGCTTCATTGAACCCCAGGCAAGTGCTGGAACCCTGGCAGGACTGGCACCTTGAGCTTGTCCCCACCCTGGGTCCCAGGGCCCTGGCTGCATCTGGATAGACTACTTGGCCAGGCCAGGACCCCTGCTTGCTCCCTAAAGGCTCTGAGGTTCCAGCCCCCACCAGGAAGCCCACTGGGGACCACTCTGAGAACCCCAGATCCCCCTCCCTTGCCCCGATCTCTCTGCAGCCCCAGGTGGTCTCAGCATCTCCCCCTGCCCTTGCAGACAGCCAATCTGTCAGTGGTGTTCAAAGACTCCAACTCCACCACACCCCTCATCTTTGTGCTGTCACCCGGCACAGACCCTGCTGCCGACCTCTACAAGTTTGCCGAAGAAATGAAGTTCTCCAAAAAGCTCTCTGCCATCTCCCTGGGCCAGGGGCAGGTCAGGGCTAGGCAGGGAGGAAGGGAGTGGGCTGGGGGGTGGGCAAGCTGGCCCCCTGCTCAGTGCTCTTGCCCCTGCAGGGCCCTCGGGCAGAAGCCATGATGCGCAGCTCCATAGAGAGGGGCAAATGGGTCTTCTTCCAGAACTGCCACCTGGCACCAAGCTGGATGCCAGCCCTAGAACGCCTCATCGAGCACATCAACCCCGACAAGGTGTGTTGCCCTGCCCATCACAGACCCAGTGGGGCCGCCTCTGCATCCATCAGGGACTAATGAGGCAGAAATAAGAGAATCATGCCAAGCACTCTGCCCAGCCTCTAGCACGTGGCAAGTGCTCAGCAACTGACATGTGCCACACATCGACATCATTAATCCTCTCAATCCACCCCCACCCCCAGTTACCTGTACAAGCGGTGATGTGACTTGTCCAGGGACACCCAGCACAGACCGTGACCTGGGACTTGCCAAAGCCCTTTTTTTTTTTTTTTTTTCAGACGGAGTCTCACTCTGTCACCGGGGCTGGGGTGCAGTGGTGCAATCTCGGTTCACTGCAACCTCCACCTCCTGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGTAGTAACCCGCCACTATGCCCAGCTAATTTTTTGTATTTTTAGTGGAGATGGCATTTCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCTCGTGATTCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCGCCCAGCCAAAAGCCCAATTCTTAACCAGTTGTCTGTGCAGCCTCGCCTGACCCACCTCAGGGTCCCTGGGCAGGAGGGAGCCTGGTGTCAGGGTGGCCACCAGATATGGGTCTCAATGCTCACGTGGAGCCATGGCCACCAGGTACACAGGGACTTCCGCCTCTGGCTCACCAGCCTGCCCAGCAACAAGTTCCCAGTGTCCATCCTGCAGAACGGCTCCAAGATGACCATTGAGCCGCCACGCGGTGTCAGGGCCAACCTGCTGAAGTCCTATAGTAGCCTTGGTGAAGACTTCCTCAACTCCTGCCACAAGGTGAGGCACACTTGGTGCAGGCCTACCCTACCTGCCCCCGTCCCCGCTCCTCACCTCCCCTGCCTCCCACCTCCCCCAGGTGATGGAGTTCAAGTCTCTGCTGCTGTCTCTGTGCTTGTTCCATGGGAACGCCCTGGAGCGCCGTAAGTTTGGGCCCCTGGGCTTCAACATCCCCTATGAGTTCACGGATGGAGATCTGCGCATCTGCATCAGCCAGCTCAAGATGTTCCTGGACGAATATGATGACATCCCCTACAAGGTGGGCCTGGGGCAGACTGGGGCCTGGGGGACTGGGCACTTAGGGGAGCCCTCACCCACCCACCCCATAGGTCCTCAAGTACACGGCAGGGGAGATCAATTACGGGGGCCGTGTCACTGATGACTGGGACCGGCGCTGCATCATGAACATCTTGGAGGACTTCTACAACCCTGACGTGCTCTCCCGAGCACAGCTACAGCGCCTCGGGCATCTACCACCAGATCCCGCCTACCTACGACCTCCACGTGAGTCCAGCCCAAAGGGCTGCACAGGAGGGGCCTGCCAGCCTGGGGTTCTGGGGTACCATGAGCACCTTGGTGCTGGGTGGGAGGAGATGCAGCCCCCACCCTCCATCAGCTGTCTTTTCATCAGTCAATCCATCCCATCCCACAAAGACAGCCTTGGCGAGGGAGTCAGACCCTGCCCACTGGGGCTTGCCTCTGTGAGTGAACTCCTGGTCAGCCACTCCCTGGGTGGAATTACTCAGTGAAGGCTTGGGGCAGCTCCTCCAAGGCAGTAACCAGGCCCAGACTCCACAGTCAGGGAGGGCTGCCACAGAAATGATGCTTCCCCTAAGATGTGTGAGGAGAAGCCATGAGCCAGGGCTGGGTTGTGTGGGTCATCAGTGCAAAGGGCCTGTGGCAGGAGGGAGCCTGACAAATTTGGGCCACTGAATAGAGGGGCAGGGAATGGATGGCAGTAACAAGGAGGCTGGGAGGGAAGCAAGGGCCACACCACACAGTGCCTCAGAGGCCTGGAGTCCCAAGAGCAGGGACATGCATAAGGGTTATGAGCAGGAGTGACAAGTGGGGAATGTGACAAGTGGGGATGTGCTCCATTGGAGGGTAACTCTGAGGGCTGGGGCAGAGCAAGCCAGGGGCTTCCATGTTGGCCTCCTCTCTCCTAGGGCTACCTCTCCTACATCAAGAGCCTCCCACTCAATGATATGCCTGAGATCTTTGGCCTGCATGACAATGCCAACATCACCTTTGCCCAGAACGAGACGTTCGCCCTCCTGGGCACCATCATCCAGCTGCAACCCAAATCATCTTCTGCAGGCAGCCAGGGCCGGGAGGAGGTGGGTGGTGTCAGAGTAAGGGGCCCAAGGGCTGGACGGGCTGGGCTTCACCATCCTGCCCACTCCCCTGTGGGAAGGACCCCTATGCATGTGGAATCCCACAGGGGATAAGGGGGCCCAGCCTTGACCCCACAGTATTCCTTTGCCCCTGCAGATAGTGGAGGACGTCACCCAAAACATTCTGCTCAAGGTGCCTGAGCCTATCAACTTGCAATGGGTGATGGCCAAGTACCCAGTGCTGTATGAGGAATCAATGAACACAGTACTAGTACAAGAGGTCATTAGGTAATCACCCCGCCATACCCCTGCCCCGAGTCAGCGGCCACTGGACTGTAGAGAAATGACAACAGGGGTTACTATGGGCCAGGTGCCATGCCAAGTGCTACACATCCTCTAACTCAGCTATTTTTTGTTGTTGTTGTTGACACGGAGTCTCTCTCTGTTGCCATGCTGGAGTGCAGCGGTATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAATAGCTGGGACTATAGGCGCACACCACCTAATTAGCGCGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCAACTCAGCCATATTTTTATTATTCACATTTTGTAGACGAGTAAACTGTGACCCCAAAATGTTCCGTAAGCTATCCAAGTCCAACTTCACACATGTGCTAAGGGCCAGAGCTGGGATTTGTACCCAGGCCACCTGACCCAGCTCTCTGCTCTTAGCCTCTATGTTTTGCCATTGTTTTTCACTCTGTGGCCTTGAGCTGCGGAGCATAGCTACTGCCACGTGACCCCAGCCCACTACCTATTCTCTTGCCACTGGCCTCACAGGTACAATCGGCTGCTGCAGGTGATCACACAGACACTGCAAGACCTACTCAAGGCACTCAAGGGGCTGGTAGTGATGTCCTCTCAGCTGGAGCTGATGGCTGCCAGCCTGTACAACAATACTGTGCCTGAGCTCTGGAGTGCCAAGGCCTACCCATCGCTCAAGCCTCTGTCATCATGGGTNN
pathogenic
69,137
The genetic variant at chromosome 3, position 52398902, affecting gene DNAH1 (dynein axonemal heavy chain 1): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Ciliary_dyskinesia,_primary,_37', 'Primary_ciliary_dyskinesia', 'Spermatogenic_failure_18']
CACCCACCCCATAGGTCCTCAAGTACACGGCAGGGGAGATCAATTACGGGGGCCGTGTCACTGATGACTGGGACCGGCGCTGCATCATGAACATCTTGGAGGACTTCTACAACCCTGACGTGCTCTCCCCTGAGCACAGCTACAGCGCCTCGGGCATCTACCACCAGATCCCGCCTACCTACGACCTCCACGTGAGTCCAGCCCAAAGGGCTGCACAGGAGGGGCCTGCCAGCCTGGGGTTCTGGGGTACCATGAGCACCTTGGTGCTGGGTGGGAGGAGATGCAGCCCCCACCCTCCATCAGCTGTCTTTTCATCAGTCAATCCATCCCATCCCACAAAGACAGCCTTGGCGAGGGAGTCAGACCCTGCCCACTGGGGCTTGCCTCTGTGAGTGAACTCCTGGTCAGCCACTCCCTGGGTGGAATTACTCAGTGAAGGCTTGGGGCAGCTCCTCCAAGGCAGTAACCAGGCCCAGACTCCACAGTCAGGGAGGGCTGCCACAGAAATGATGCTTCCCCTAAGATGTGTGAGGAGAAGCCATGAGCCAGGGCTGGGTTGTGTGGGTCATCAGTGCAAAGGGCCTGTGGCAGGAGGGAGCCTGACAAATTTGGGCCACTGAATAGAGGGGCAGGGAATGGATGGCAGTAACAAGGAGGCTGGGAGGGAAGCAAGGGCCACACCACACAGTGCCTCAGAGGCCTGGAGTCCCAAGAGCAGGGACATGCATAAGGGTTATGAGCAGGAGTGACAAGTGGGGAATGTGACAAGTGGGGATGTGCTCCATTGGAGGGTAACTCTGAGGGCTGGGGCAGAGCAAGCCAGGGGCTTCCATGTTGGCCTCCTCTCTCCTAGGGCTACCTCTCCTACATCAAGAGCCTCCCACTCAATGATATGCCTGAGATCTTTGGCCTGCATGACAATGCCAACATCACCTTTGCCCAGAACGAGACGTTCGCCCTCCTGGGCACCATCATCCAGCTGCAACCCAAATCATCTTCTGCAGGCAGCCAGGGCCGGGAGGAGGTGGGTGGTGTCAGAGTAAGGGGCCCAAGGGCTGGACGGGCTGGGCTTCACCATCCTGCCCACTCCCCTGTGGGAAGGACCCCTATGCATGTGGAATCCCACAGGGGATAAGGGGGCCCAGCCTTGACCCCACAGTATTCCTTTGCCCCTGCAGATAGTGGAGGACGTCACCCAAAACATTCTGCTCAAGGTGCCTGAGCCTATCAACTTGCAATGGGTGATGGCCAAGTACCCAGTGCTGTATGAGGAATCAATGAACACAGTACTAGTACAAGAGGTCATTAGGTAATCACCCCGCCATACCCCTGCCCCGAGTCAGCGGCCACTGGACTGTAGAGAAATGACAACAGGGGTTACTATGGGCCAGGTGCCATGCCAAGTGCTACACATCCTCTAACTCAGCTATTTTTTGTTGTTGTTGTTGACACGGAGTCTCTCTCTGTTGCCATGCTGGAGTGCAGCGGTATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAATAGCTGGGACTATAGGCGCACACCACCTAATTAGCGCGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCAACTCAGCCATATTTTTATTATTCACATTTTGTAGACGAGTAAACTGTGACCCCAAAATGTTCCGTAAGCTATCCAAGTCCAACTTCACACATGTGCTAAGGGCCAGAGCTGGGATTTGTACCCAGGCCACCTGACCCAGCTCTCTGCTCTTAGCCTCTATGTTTTGCCATTGTTTTTCACTCTGTGGCCTTGAGCTGCGGAGCATAGCTACTGCCACGTGACCCCAGCCCACTACCTATTCTCTTGCCACTGGCCTCACAGGTACAATCGGCTGCTGCAGGTGATCACACAGACACTGCAAGACCTACTCAAGGCACTCAAGGGGCTGGTAGTGATGTCCTCTCAGCTGGAGCTGATGGCTGCCAGCCTGTACAACAATACTGTGCCTGAGCTCTGGAGTGCCAAGGCCTACCCATCGCTCAAGCCTCTGTCATCATGGGTCATGGACCTGCTGCAACGCCTGGACTTTCTGCAGGCCTGGATCCAAGATGGCATCCCAGCTGTCTTCTGGATCAGTGGATTCTTCTTCCCCCAGGCTTTCTTAACAGGCACTCTGCAGAATTTTGCCCGCAAATTTGTCATCTCCATTGACACCATCTCCTTTGATTTCAAGGTCTGGGCACAGCCAGGGCCAGGTCAGGTGACAGGCTAGGGTACAGCCCAGGGAGGAGAGGCTCTGAGGCCACGGTTGGTTGGCAGTTGGGGGACCCCTAAGCCAGGGCATGGAAAGACCCAAGCCAGAAGAGGCCATGAGTCCCAGGAACGGGTCTGGGCTGGGTCCATCAGAAATCCACAGGGGCAGGGCACAGACCACAGGCCATGGGCTAAAGTGGTAGGTACGTGATGATGGGCAGGCAGGCAGCATTAGGCAGCTCTCTCAGAAGGGAGTTTTGTGCCTCCTAACCCAGATTCTGGGTATTGTTATGTGTGTGGGGTGTGTCTGTGTCTACCCACAGGTGATGTTTGAGGCACCATCAGAGTTAACACAAAGACCCCAAGTAGGGTGCTATATCCATGGATTATTCCTGGAAGGTGCCCGCTGGGATCCAGAGGCCTTCCAGCTGGCTGAGTCTCAGCCCAAGGAGCTGTACACAGAGATGGCCGTTATCTGGCTCTTGCCAACACCCAACCGCAAGGCCCAGGACCAGGACTTTTACCTGTGCCCCATCTACAAGACACTGACTCGTGCTGGTATGAGGCCTGGGATGGGAGCCTACACTATGGGCGGGGACCCAGGACTAACCCAGCCCAGCCCAAGCCAGTCACTTATCCAGGTTAGCTGAACAAGGAAGGACAACAGAGATTTGGGCCAGGCCAGCAAGCAGCAGGCAGGTTAATGCCCAAGGCCTGCCGTCTGGCTGTGGGGAGCACCCCTGAACTCCTATCCTGCATGCCTCCCTCAGCAGGCCCACCTTGGGCCCCAAGAGCCTACAAGCCCCAGCCTGTCATTGGGAGTTCAGAGGGGTAACTGAGGCCCAGGGCAGGAACTTGTTTGGACTAGGTCCATCAGAGAATGAAAAGTGGCATCAACTCTGCCATCCCTATCTTCAGTCCCCAATACAGTAACCCTGGGCAGGCTTGAACCCTGGCCAGACCCCCTCATCAGGTAGGCTTCCTCTTGGGTCAGGGCCCCCTCCCTGTCCTCAGCTTAGTCTGCCCACTGCCCTGCCCCTACGCTATCCCTGCTAGTAGTAATAGGGCATGACCTAACCCGTCCCCCTCCTTGCCCATTCCAGGAACACTATCAACCACAGGACACTCTACCAACTATGTCATTGCTGTGGAGATCCCCACCCATCAGCCCCAGCGACACTGGATAAAGCGTGGTGTGGCCCTCATCTGTGCCCTGGACTACTAGACTCAGACAGAAGGGCTGGGGCCATTAAAGCTGAATTTTCTAAGCAGTCCAGCTGTGCCTTAGCTGCTTGCATGAGGACCCCTCTGCAGGACTCACTGCCAGGGGGCTGGTGAGGGGCTGCAGCAGCCTCAGCAGACGATGCAGTCGGCAGAGGAGAGCGGGACAGAGGCGGCAGCTTTGACCTGCTTTACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCC
CACCCACCCCATAGGTCCTCAAGTACACGGCAGGGGAGATCAATTACGGGGGCCGTGTCACTGATGACTGGGACCGGCGCTGCATCATGAACATCTTGGAGGACTTCTACAACCCTGACGTGCTCTCCCCTGAGCACAGCTACAGCGCCTCGGGCATCTACCACCAGATCCCGCCTACCTACGACCTCCACGTGAGTCCAGCCCAAAGGGCTGCACAGGAGGGGCCTGCCAGCCTGGGGTTCTGGGGTACCATGAGCACCTTGGTGCTGGGTGGGAGGAGATGCAGCCCCCACCCTCCATCAGCTGTCTTTTCATCAGTCAATCCATCCCATCCCACAAAGACAGCCTTGGCGAGGGAGTCAGACCCTGCCCACTGGGGCTTGCCTCTGTGAGTGAACTCCTGGTCAGCCACTCCCTGGGTGGAATTACTCAGTGAAGGCTTGGGGCAGCTCCTCCAAGGCAGTAACCAGGCCCAGACTCCACAGTCAGGGAGGGCTGCCACAGAAATGATGCTTCCCCTAAGATGTGTGAGGAGAAGCCATGAGCCAGGGCTGGGTTGTGTGGGTCATCAGTGCAAAGGGCCTGTGGCAGGAGGGAGCCTGACAAATTTGGGCCACTGAATAGAGGGGCAGGGAATGGATGGCAGTAACAAGGAGGCTGGGAGGGAAGCAAGGGCCACACCACACAGTGCCTCAGAGGCCTGGAGTCCCAAGAGCAGGGACATGCATAAGGGTTATGAGCAGGAGTGACAAGTGGGGAATGTGACAAGTGGGGATGTGCTCCATTGGAGGGTAACTCTGAGGGCTGGGGCAGAGCAAGCCAGGGGCTTCCATGTTGGCCTCCTCTCTCCTAGGGCTACCTCTCCTACATCAAGAGCCTCCCACTCAATGATATGCCTGAGATCTTTGGCCTGCATGACAATGCCAACATCACCTTTGCCCAGAACGAGACGTTCGCCCTCCTGGGCACCATCATCCAGCTGCAACCCAAATCATCTTCTGCAGGCAGCCAGGGCCGGGAGGAGGTGGGTGGTGTCAGAGTAAGGGGCCCAAGGGCTGGACGGGCTGGGCTTCACCATCCTGCCCACTCCCCTGTGGGAAGGACCCCTATGCATGTGGAATCCCACAGGGGATAAGGGGGCCCAGCCTTGACCCCACAGTATTCCTTTGCCCCTGCAGATAGTGGAGGACGTCACCCAAAACATTCTGCTCAAGGTGCCTGAGCCTATCAACTTGCAATGGGTGATGGCCAAGTACCCAGTGCTGTATGAGGAATCAATGAACACAGTACTAGTACAAGAGGTCATTAGGTAATCACCCCGCCATACCCCTGCCCCGAGTCAGCGGCCACTGGACTGTAGAGAAATGACAACAGGGGTTACTATGGGCCAGGTGCCATGCCAAGTGCTACACATCCTCTAACTCAGCTATTTTTTGTTGTTGTTGTTGACACGGAGTCTCTCTCTGTTGCCATGCTGGAGTGCAGCGGTATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAATAGCTGGGACTATAGGCGCACACCACCTAATTAGCGCGCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCAACTCAGCCATATTTTTATTATTCACATTTTGTAGACGAGTAAACTGTGACCCCAAAATGTTCCGTAAGCTATCCAAGTCCAACTTCACACATGTGCTAAGGGCCAGAGCTGGGATTTGTACCCAGGCCACCTGACCCAGCTCTCTGCTCTTAGCCTCTATGTTTTGCCATTGTTTTTCACTCTGTGGCCTTGAGCTGCGGAGCATAGCTACTGCCACGTGACCCCAGCCCACTACCTATTCTCTTGCCACTGGCCTCACAGGTACAATCGGCTGCTGCAGGTGATCACACAGACACTGCAAGACCTACTCAAGGACTCAAGGGGCTGGTAGTGATGTCCTCTCAGCTGGAGCTGATGGCTGCCAGCCTGTACAACAATACTGTGCCTGAGCTCTGGAGTGCCAAGGCCTACCCATCGCTCAAGCCTCTGTCATCATGGGTCATGGACCTGCTGCAACGCCTGGACTTTCTGCAGGCCTGGATCCAAGATGGCATCCCAGCTGTCTTCTGGATCAGTGGATTCTTCTTCCCCCAGGCTTTCTTAACAGGCACTCTGCAGAATTTTGCCCGCAAATTTGTCATCTCCATTGACACCATCTCCTTTGATTTCAAGGTCTGGGCACAGCCAGGGCCAGGTCAGGTGACAGGCTAGGGTACAGCCCAGGGAGGAGAGGCTCTGAGGCCACGGTTGGTTGGCAGTTGGGGGACCCCTAAGCCAGGGCATGGAAAGACCCAAGCCAGAAGAGGCCATGAGTCCCAGGAACGGGTCTGGGCTGGGTCCATCAGAAATCCACAGGGGCAGGGCACAGACCACAGGCCATGGGCTAAAGTGGTAGGTACGTGATGATGGGCAGGCAGGCAGCATTAGGCAGCTCTCTCAGAAGGGAGTTTTGTGCCTCCTAACCCAGATTCTGGGTATTGTTATGTGTGTGGGGTGTGTCTGTGTCTACCCACAGGTGATGTTTGAGGCACCATCAGAGTTAACACAAAGACCCCAAGTAGGGTGCTATATCCATGGATTATTCCTGGAAGGTGCCCGCTGGGATCCAGAGGCCTTCCAGCTGGCTGAGTCTCAGCCCAAGGAGCTGTACACAGAGATGGCCGTTATCTGGCTCTTGCCAACACCCAACCGCAAGGCCCAGGACCAGGACTTTTACCTGTGCCCCATCTACAAGACACTGACTCGTGCTGGTATGAGGCCTGGGATGGGAGCCTACACTATGGGCGGGGACCCAGGACTAACCCAGCCCAGCCCAAGCCAGTCACTTATCCAGGTTAGCTGAACAAGGAAGGACAACAGAGATTTGGGCCAGGCCAGCAAGCAGCAGGCAGGTTAATGCCCAAGGCCTGCCGTCTGGCTGTGGGGAGCACCCCTGAACTCCTATCCTGCATGCCTCCCTCAGCAGGCCCACCTTGGGCCCCAAGAGCCTACAAGCCCCAGCCTGTCATTGGGAGTTCAGAGGGGTAACTGAGGCCCAGGGCAGGAACTTGTTTGGACTAGGTCCATCAGAGAATGAAAAGTGGCATCAACTCTGCCATCCCTATCTTCAGTCCCCAATACAGTAACCCTGGGCAGGCTTGAACCCTGGCCAGACCCCCTCATCAGGTAGGCTTCCTCTTGGGTCAGGGCCCCCTCCCTGTCCTCAGCTTAGTCTGCCCACTGCCCTGCCCCTACGCTATCCCTGCTAGTAGTAATAGGGCATGACCTAACCCGTCCCCCTCCTTGCCCATTCCAGGAACACTATCAACCACAGGACACTCTACCAACTATGTCATTGCTGTGGAGATCCCCACCCATCAGCCCCAGCGACACTGGATAAAGCGTGGTGTGGCCCTCATCTGTGCCCTGGACTACTAGACTCAGACAGAAGGGCTGGGGCCATTAAAGCTGAATTTTCTAAGCAGTCCAGCTGTGCCTTAGCTGCTTGCATGAGGACCCCTCTGCAGGACTCACTGCCAGGGGGCTGGTGAGGGGCTGCAGCAGCCTCAGCAGACGATGCAGTCGGCAGAGGAGAGCGGGACAGAGGCGGCAGCTTTGACCTGCTTTACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCN
pathogenic
69,143
Is the variant located on chromosome 3 at position 52402645, gene BAP1 (BRCA1 associated deubiquitinase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['BAP1-related_tumor_predisposition_syndrome']
GAGGAGAGCGGGACAGAGGCGGCAGCTTTGACCTGCTTTACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCA
GAGGAGAGCGGGACAGAGGCGGCAGCTTTGACCTGCTTTACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAN
pathogenic
69,212
Located at chromosome 3 position 52402658, 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']
CAGAGGCGGCAGCTTTGACCTGCTTTACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCC
CAGAGGCGGCAGCTTTGACCTGCTTTACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCNNNNNNNNNNNNNNNNNNN
pathogenic
69,213
Does the chromosome 3 mutation at position 52402683 within gene BAP1 (BRCA1 associated deubiquitinase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
benign
TACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGC
TACCTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCNNN
benign
69,220
Evaluate if the mutation on chromosome 3 at position 52402686 in BAP1 (BRCA1 associated deubiquitinase 1) is benign or pathogenic. Disease name(s) if pathogenic?
benign
CTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTG
CTGTCCAAAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTG
benign
69,222
Variant on chromosome 3, at position 52402693, affecting BAP1 (BRCA1 associated deubiquitinase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
AAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAG
AAAGCAACAAGGAAGAGATGCCCAGCGCCCTCCCAGGGAGAACACACCAGGCGAGATTAGATTAGAGGCAGCCCCGCCTCTTTGACCCACAGTCCCAGCACCTCTCCAGGCTGCAAAGCCACAGATTTGGTGAAAGCCATGGCCCTCTCCCCAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGNN
benign
69,227
Evaluate if the mutation on chromosome 3 at position 52402844 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']
CAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACG
CAGAAAGTGCACCCTGTCTACAGTCCACCTGAAGTCCCTCCTCAGCTCAGGTCCTAAATCCCAGGCCTAGGATTCCAAGGATCTCTGGCCCAAGACAGCTGGACACTCAAGGATCATATACTTCTTACCTTTCTGGTCCCAGGGCCCTAGGCCCATGAGGTCTAGTAAGGCCCAGCCTCCATATCTCAGGCCAGCAACCACAGGAGGGTTCATTTCTCAGGAGATTCTTAGGAGAGTTTTATTCATTCATTGATCCAGTATTTACAGGGGCTAGAGGGGTCAAGCTGTGCTCAGCCCAGAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGNN
pathogenic
69,245
Is the genetic change at chromosome 3, position 52403142, within 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']
GAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAA
GAGGCAGCTGCCACACTTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAANNNN
pathogenic
69,256
Is the chromosome 3, position 52403158 variant in BAP1 (BRCA1 associated deubiquitinase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCT
TTGCCAGCACCCCCCACTCAGTCACTATGTACAGATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCCTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTN
pathogenic
69,260
Clinical classification of chromosome 3, position 52403192, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTG
ATAAAGGGGCCTGCTTGGATCACCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGN
pathogenic
69,268
Gene mutation in BAP1 (BRCA1 associated deubiquitinase 1) at chromosome 3, position 52403214—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome']
CCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTT
CCTTTTTCAAAGCCATCTGGCAGAGGCCATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTN
pathogenic
69,275
Considering the variant on chromosome 3, location 52403241, 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', 'Hereditary_cancer-predisposing_syndrome']
CATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTG
CATGGGGCTGTGTTGGGGCCTGGGCTCCAGAGGCACTGCTGGGCCCATTACCCCTTGGCATCAGGTCCTCTGGAACACAGGGGCTCCAACGGGTTGTCTTGATCCTGCTGTCCCCCACCCTGAGTGCCTTGCAGAGGCTGAGGAAACTGGAGTAGCAGGAAGAGCTGAGTGGTGCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGN
pathogenic
69,284
Gene BAP1 (BRCA1 associated deubiquitinase 1) variant at chromosome 3, position 52403414—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCA
GCCAGCTTCCTATAAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAN
pathogenic
69,306
Variant in BAP1 (BRCA1 associated deubiquitinase 1), chromosome 3, position 52403427—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'BAP1_Cancer_Syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Melanoma,_uveal,_susceptibility_to,_2']
AAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGG
AAGCAACCCTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGN
pathogenic
69,311
Variant in gene BAP1 (BRCA1 associated deubiquitinase 1), located at chromosome 3 position 52403435: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAG
CTGTCTCTGCTACCCCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCGAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAA
pathogenic
69,313
A genetic alteration at chromosome 3, position 52403449, in gene BAP1 (BRCA1 associated deubiquitinase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAA
CCTGAGAGGGAGACATGGTAATACTGAGGGGCTGGACAGAGGCTCTTCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAA
pathogenic
69,318
Regarding the variant found on chromosome 3 at position 52403495 in gene BAP1 (BRCA1 associated deubiquitinase 1): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome']
TCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGA
TCTGAGCCTCAAGCGCCAGGGACAGAGACCTAGAGCCCAATTTAGGCCCATAGCTAGGGCCACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGCAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAN
pathogenic
69,328
The mutation impacting BAP1 (BRCA1 associated deubiquitinase 1) on chromosome 3 at position 52403556: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['BAP1-related_tumor_predisposition_syndrome']
ACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGG
ACAACACTGAAGGCGAAGAGCCCTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGN
pathogenic
69,337
Chromosome 3, position 52403578, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACT
CTAGAACCTTGCTATGGAGAGCAGTCTTGAACAGCCTGGCTAGAACAAGGAAGACAGTTCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTNN
pathogenic
69,343
Does the variant impacting BAP1 (BRCA1 associated deubiquitinase 1) on chromosome 3, position 52403636, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAA
TCACAGGCCACTGAACAGTTCCCACATGCTCTGCTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAA
pathogenic
69,358
Gene mutation in BAP1 (BRCA1 associated deubiquitinase 1) at chromosome 3, position 52403669—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACA
CTCAGGCCATGGGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACANN
pathogenic
69,364
Is the genetic variant on chromosome 3, position 52403680, 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']
GGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGG
GGATCCCAGCAGCCTGCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGN
pathogenic
69,365
Clinical significance of chromosome 3, position 52403695, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['BAP1-related_tumor_predisposition_syndrome']
GCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAA
GCTCACCCCAACCCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGT
pathogenic
69,370
For chromosome 3, position 52403707, 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']
CCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAAC
CCCACTGGGACACCCTACTCCCAACCCAGCCCAGTGCTGGGTCCCTGAGTTTGGCACTCTCCTAAGAGGAATGAAGAGAGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACN
pathogenic
69,374
Clinical classification of chromosome 3, position 52403785, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTG
AGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCT
pathogenic
69,394
The mutation impacting BAP1 (BRCA1 associated deubiquitinase 1) on chromosome 3 at position 52403785: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Kury-Isidor_syndrome', 'Melanoma,_uveal,_susceptibility_to,_2']
AGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTG
AGAAGACCTGGCTTCCTTACAACAGGGACAGGCTGGTGGCTGGGGCTAGAGCAGCAGGGCCCAGAGCCCAGGGCCCACCCAGGCCCCCAGCTAGGACCCTGTAGTTGGGACCGTGGCATGATACAAGGACCTGGGCCCACCAGGACAGCTCCTAGGAGAGAAAGCATAGTCAGGTAGGAACTTATGTCAACATGGTGGCATGTTGGGTTGGAGCCCAGAAAAATAGATGTCTCTGATAGGTAAAATATATATTCTGCTGCCCAGGCAGAAGGGCCAGGTCCTGCTGCTCCACAGCCGGCTGTGGAGGAAGCTGCAGTACCTCGCTGTGCCCCAACTCCAGATGCTGCCTCCTGAGCACTATGGGGCTGATCTGCCGTGTCAGGCCTCAGGGCACGATGGAAGGAATGTGGCCTGGTTCCTCCCATTCCCAGGGCCTGGACTCTCCAGCTGGGACTATTCAGTAATACTGGGAAAAGGGGAAGTGGGGCAGGGAAGGACCCTGGTGAGGGCCACACGGCAAGAGTGGGCTGCAGAGTCAGGGCCAGCAGTCCTCACTGGCGCTTGGCCTTGTAGGGGCGAGAGCGTTTCCGCCGGTCAGGCTTCCGCTGCTTGTGGAGCCGGCCGATGCTGACCCCTTGGCGCCGCCGCACGGAGATGTTCTGCTCCACTAGGTTGGCCAGCATGCCTGCGAAGAGGTAGAGACCCTTGAGCAGGTGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGNN
pathogenic
69,395
Chromosome 3, position 52404499, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTA
TGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCAATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGT
pathogenic
69,438
Classify the chromosome 3 variant at position 52404499 affecting gene BAP1 (BRCA1 associated deubiquitinase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTA
TGCTGGCTGCCTCAGGCCAGGAGCTGAGGCTCTCATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTANN
pathogenic
69,439
Mutation at chromosome 3, position 52404533, within BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGA
ATGGCCCTCCCTGTGCCCCAAGGTCTGCTCAAGCCTCAGGAGAGGCCAGGGGAGGGGAGCTGAAGGACACGGCCCTCAGCAGGGCATTCCAGTTAAGACAGCAGCGCATCCCCTCACCTTCCTGAGCCAGCATGGAGATAAAGGTGCAGATGAACTCATCGTAGTTGTGGGTCCTTCTCTGGTCATCAATCTGTAGGAGAGAAGAAGACTGAGAGCACTGGAGCCAATCTTGCCAGAGCAGCCACCAGTGGACCTCGGGAGAGGCCAGATCAGGCAACTGGAGAAATCACCCACCTTGAACTTCTTCCTCTTCTCTACCTCCTCCTTGAGGCACGCCTCATAGTTTGCAATCTCAGCCTCCACACACTTCAGCAGTGCCAGCAGCTCCTGCCAAAACCCAGCATTGCACCTCTGATCGGGGCGGGCCAGCAACAAAGCCCCACGAGCAATAGGCAGCTAGAGGCAAGGATGAGCAGCGAGTCCATGCCTATCAAGGCCCCTGCCACCACCCAACCCAGAAAGTCTTCTGGCACATGGCTCCAGCCACCAATCTTCACACCAAAGTTCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGG
pathogenic
69,452
Mutation at chromosome 3, position 52405098, within BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, indicate the disease(s).
benign
TCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACC
TCCAATCAAGAACTTGGCACCTGGGCAGGAGGAGCTCAGGCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACAC
benign
69,468
Evaluate the clinical significance of the mutation at chromosome 3, position 52405137 in gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATG
GCCTTACCCTCTGCCAGGATTAAAGGAGAAAACCACAACGGAGGCTCACCTTGGGTGAGTATTTCTCCCCACTCAAGGGCTCGCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGN
pathogenic
69,475
Gene BAP1 (BRCA1 associated deubiquitinase 1) variant at chromosome 3, position 52405219—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
GCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCC
GCCAGGCCTCACCATCCCCGTCTTCTCTCTGCTGTCCGTGGCTTCCACGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCN
pathogenic
69,489
Located at chromosome 3 position 52405266, 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']
CGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCG
CGACCTCCTTCTCCACTGGGCTGCTGGACCCCTGGCTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTC
pathogenic
69,500
Mutation found at chromosome 3 position 52405301, gene BAP1 (BRCA1 associated deubiquitinase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
benign
CTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAAT
CTGCCTTGGATTGGTCTGATGGAGGGCGAGGAACCCTTCCCACCCTCTGGGAAGAGAGGTCACAAGAAAATCATCAGAGTGCAGGACACTTTGTGGTCACTTGGCCACTTCCCTCCTCCCTCCTGGGTGCACCAAGTGGCCAGTGAGCCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCCCATCCTCAGCCAGGTGCAGCAGGCCTGTGCTGATGACAGGACCCAGATCACGGACAGCACGGTTGTAGCGTATGCAGTCAACACGCAGCAGGCTGTCATCCTCTCCAAAAAGCACCTTGGAGATGTGGGAGGTGACAGGGCTGGAGGGCCGCGTCGGGTTGGCTGAGCGGATAGGCGAGCGCAGTGGCGAGTTGAAAGCACTGCCGATCTCAGAGGCCGTGTCTGTACTCTCATTGCTGGGGGTGGGTGAGGGCTGCGAGTGTGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATNN
benign
69,507
Is chromosome 3, position 52405753, gene BAP1 (BRCA1 associated deubiquitinase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
benign
TGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCC
TGTGGGCACTGCCACAGCCGGACTCCCAGCCCCGCTGCTAGTCTTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGC
benign
69,515
Gene BAP1 (BRCA1 associated deubiquitinase 1) variant at chromosome 3, position 52405796—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCAT
TTGATGGACAGAGGAATTGAGAGGTCCTTCTGGGACTCTTTGAGCTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATNN
pathogenic
69,531
The mutation in gene BAP1 (BRCA1 associated deubiquitinase 1) at chromosome 3, position 52405840—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['BAP1-related_tumor_predisposition_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAGC
CTTCTCAGCCAAGACGTTGATGGTGTTGGGCTGCAGCACTGACAGTTGCCCATCAGCAGAACCGCTCAATGCCCCTGGCTTCCCTGTTCCCTTCCCCTTATACCTGTGGGGCCCGAGAAGATGTGAAGCAAGGGAACGGGCCAGGTGACCATACCCAGCAGTACCCAGAATGGCTTAAATACATCCCGACCTCCAGGGGCTGACCCTAAAACTCCTTATACTTGGTCCAAGCAACTTGAACTAGCCATGCTAAGCCTGGCATCAAGTTCTGACAGCTGCAGCCAAGTGTCCTCAAAAGACACTTCCTCTATTCCAGCCATCCCACTCCTGGCCTTTTGCCAATGCCCTGTGTTCCAGCAAAGCTGCCTCCCCACCACCCACATCTCCTCCATCCCTGCCCCAACCAATCCTTCAAGGCCTGGCTAAAAGGCCACTTCCAATAGGACATGATATAAGCTTACGTGCTCAGCCTTACCCCCCAGCCCACCAAAAACTTCCTGGGGACCTGGGGTCAGCCCCATCATGCCAGCCTCCCCCAGGGCCCCAAACTCCGCAGGTGCTCAACATTATCTGCTGCAGGGCATTCTCAGACACAGACTGAGATATTCAGGATGGGATCCGAAGCACCTAGAACCTGGTAGCCTTAGAAAGCTGGGCTGACCTAAGGGCAGAGTTGGTGTTCTGCACGTCATCCTCCTCGTCATCCTCATAGTCATCCTCATCATCTGAGTACTGCTGGGGTGGGCGGACTGGAACTCGGCTGCGGCCCACACCTGCCGCCAGGTCTTCTTCCTCCTGGGACAAAGACCAGGGCAGTTACAAACAAGTGCTGCTCGGCCCAGGCTGAGCCTAGACACTCACAGCCAGAGAGAAAGCCAACATGGTTTTCCAGACTGAGTCAGCGGAACCCCTCCAGCTGTTCCATGGCCTGTCCTTGGCTTGTGGGGAGGCTGCCACCCACTTACACTGGATAGAACCCCACGGAGGGGTTTTAAGAGAAACAGAGTGCCCTGAAACACATGCCTTTATTTTGCCAGTAAAACCCAACCCATGAAGTTGTACCAAGGAGCGTGACCTAAACATTTAATCCCACAGCCACGTAACTAGATTAAATTCAAAGGAGCTCTCCCTGCCTCCCTAAGCTCCTGCTGTTGTGGGGGCCTTTTCATATCAGGCAGAGGAACCTAGCAACCCAGGCCCAGGCAGCTTGACCCAGCCATGCCAAGGATGAACACCAAGGAACCACATGGGAAAATTGCCTGTTGCAGCCTCTCAAGAGAATCAAGTAGAGAATCCTGCAAGGGTGCTCCCAGCTTACCTGCATGGGGGACTTGGCATAATTGTGATTGTCTAGAAAGGCCGGCAGCCGCTGGACAATGGGAGTGGGGTTGGGGTGAACCCCATTGAGGCTGCTGCCTGGAGGCTTCACCACTAGCTTGGGTTTGTTGGGAGGGCTGTGGGATGGGGCTTGTGCGCATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAGGGCAAGAACACAGGCAGGACCTCCAGTAGGATCTCCAAGAAAAGCTCACAGTCTCCCCGGCCCTGTGAACCAGCACTTCCCAGAGAAGAACAGCCCAGCCAGCTGGTGCAATGGGAGTCAGCAAGCTCTAAGTCATGATCCCGCAATGAGACAGGGCAAAGAATGAGATGGGAAAAAAGAAGCAGGAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCGCCTCTAGAGAAAACAAGAAAGGGAGTGTACATTACAGAGAAGGGCCCAGGGGCCTGTGGTAACAGCGGCCCTTTACAGGTGCCTTTCTTTAGGGAAGGACTGCTCTCCCTCTACCTTCTGACGGGGGAAGAACACTGCCCAAGGACATCCCCAGAAAAAGACTTTCCCTGTTTAGGCCTCCCATGTCAGACATTAGCGGGTGGCTCTGAGGTCCACAAGAGGTCCCAAACCCCCCAGTACCTGTGTGGTTGCCCTCAGAGGCTGCAGGGGCCCTGTTTGCTTCCAGCACCAGCGGGGACTTGTTGCTGGCTGACTTGGGACTCCTCAGGCAGCTGTGACTCTTGAGACTTGTGGGTCTGAATCAGCTCTGGCTGTGTTACTCTTATCAGCTAACAACAGAATCCAGGGCTCAGAGGAGAAAGGGTAGACCCGGGCTTCTACCTTAAATAGCTAAGGGCTGAGGACCTAAAGGAATAATGGCCTTGGCTCTACCCATTCACTCACAGGGAAATAAAACACCCAAACCCAAACTTCCTTTTAGAAGCTATTCTCCCTCCCCACTCCAAGTCCCACCTTTCCCACAATGGGGGCAAAGAAAAGATGTGGTTAGCTGAAGCCCAGATCTACAAGAGAGTATGTTCACGAATCAGAGACAAATGCTGTGGGGGAAGGGAGGAGGAATGCAGGGAGGGTTGGGCTGGGCAGAGGCCAGGAAGAAAGGGCACCTACCTGCTGCAGAGCCTCTAGTACTGTCTGACGGTTCACCTTCAGCACATGCAGCCTGGCCTCATACTTGATCCTGCGGTCGGGCACCACTGCCATCAGGTTGAAGCGGATGTCGTGGTAGGGCTCCCTGCAGTCACAGCCGCAGCCGTGAGAGCAGCTCCCGCCCCGGCCCCGCCATCAGGTTGAGGCAGATATCCTGGCAGGGCTCCCTGCAGTCACACCTGCAGCTGTAGGTATAGGCCCCACCCCAACAGGCAGGCAGCGACTAGCCATACATGCCAGGCACCTGAGCTGGTACCTTCCAACAAGCTGTATGAGGGGCCTATCTGGAAGTGAACCAGCAGACCTGGGCTGCCTAAGGCTCCACTGAGGCCTGCCCCTCCCCCAGCCCACCCAGGAGCAGGCCACAGGCAGCCCAGGCAGGAAATAAGACAACAAGTTGAGAACCCATGATCTAAGCCTGATCTTGCCAGATTCACCATATGGCCTTGCAATTTACAAATCACCTGGATACTCTCTGTCCCTCCCAAAGTAGGTACAGCTCCAGAGAGTAGAACAGGGCAGGCACAGGGCCCTTACCCTGCAGTGGCGAGGCCGATACGCTCCATGATGACCCGCCGGGCCTTGTCTGTCCACTCCTCGTCCTCCCCCCAGGGCCCTAGTGGAGACCAAGACAAGGAATCAGCGAGAAGGAAACCCTGAGTTTGGGCAGGCCAGGAGTGGGAAGGAAGACAGAGAAGAGCAGTTGAGCCAGGGAATCAGGAGCTGGTCGGGCAATATGGTGTAGGGTGAAACCCCAGCCAGAGCCGGGTGTCGGTACCGACAACCCCTGCCACTGGGTACCACATACCAGAGGGCCCTGAGCCCCAGCTCCCTAGGAGGTAGGCAGAGACACCCAACAGGCCTCCAGCTCATGGTGCCTACCATGGTCAATGGGGTAGACCTTCAGCCCATCCAGCTCAAAGAGCCGGCCTGTGATAGGCACATAGCTGACAAAGTGGAACGCCTCCATGGTCCGCACTGCACTAAGGCCATTCTGCTTCTCAGGGAGGTGGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCAGCTCCCACAGCTCCCACACACCTGGCATGGCTATTATGGGCCTTGGCCAACTCCGGGGCATTGCCAATCGCATATCCTTTGCTCTACGGGGAAGAAAATAAGGCCGTATCAGAATAATTTCTCCTCAGGTAGGACTATGGGTGGAAGGCAAAGCTTCAGAGAGCAGCCTGGAGGCATTCCAGGAATCGGAAGGAACACAGACGAACTTTCTTAAAAGGCTGGTGGGGGCAGAAAAGAGCTCTGGAGCCCCAAAGAGATGGACTGTGCTGGCCTTGCATGGTAATTAGTGGACACTAGGAAGCAACATGGCCTGAGAGGAAAAGTCCTGACAGAGAAGGTTCTGACATGGTCTGACTTAAGGAAACTCTCCTCCCTCCCTAGGCCTGTGTCCTTTCCCCGCAACTGCATCTAAAAACAATGGCCTTACACAATTTATTTAAGAGTCAAATGTAACATAAACAATCATTTGAAAAAGAAACAGCCTAATAGTACCCAATATCATGTGGTAG
pathogenic
69,541