Datasets:

Modalities:
Text
Formats:
parquet
ArXiv:
Libraries:
Datasets
pandas
License:
Dataset Viewer
Auto-converted to Parquet
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
Mutation found at chromosome 1 position 1040717, gene AGRN (agrin): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Congenital_myasthenic_syndrome', 'Congenital_myasthenic_syndrome_8']
TGGTGCAGGGAGGTGACTGGGTCCTTGGCCATGGGGTTGGGACCTGGGGGGAACCATTGGTCCACAGGTCCAGCCGAAGCCCAGGAGAACAGCTGGCTGGGCATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCG
TGGTGCAGGGAGGTGACTGGGTCCTTGGCCATGGGGTTGGGACCTGGGGGGAACCATTGGTCCACAGGTCCAGCCGAAGCCCAGGAGAACAGCTGGCTGGGCATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTG
pathogenic
67
Evaluate if the mutation on chromosome 1 at position 1040819 in AGRN is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Congenital_myasthenic_syndrome_8']
ATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAG
ATCAGCAGGTGCCCGTTGGATTTGGACTGGGAGTCCCAGGGCCTTGGACAAGGCAGGGCCAAAGGGAGAGGGAGATGCTGAGGGGAGAGAGAAGGGGAACCAGAAGGGAAGTGAAAGGGCCAGGGGTGCATGTGGTTTGAGTTTGATTTGAGCCAGGACGGGGGAAGGCCAGTGGTGATGACAGCCCTCATGACTATACTTACAGTGGCAGCAGACGGGCCACATAGCGCTGTGTGCTGGGCACCCTCTAAGCTTTGCAGATACTGGCCCATTTAACCCCACAATCCTGGGAGGTAGGTCCTATTGCTCCTATTCACCGAAGGGGATACTGAGGCCCAGGCAGGTGATAACCTGCCCACATTCTCACAGTGGGTAATGCAGAGCTGAGCAGCCTGGCTGTAAGACCTGAGGTGGGAGAGTAGCAGAAGAGGGGTGGGGGCACAGCCAAGGTTTGGGGAGGAAGACAGGGATCTGGTGGGGGGAGCATGGGTAGGTTGCAGGGATGGCAGGCGGATGGCCCTCACTCAGCCTTCTGGGGTGGGGGCAGGGACACCCAGACAGACAGCGCCAGAGCCTGGGGTGGGCTGTTGCTATAGCAACAGCTGGCTCCAGCTCCCAGTGCACCCACCCTCCTTGGAGATGGGGGGGGTTCCTCCTGCCCCATTTCACGAGCCTGCTGGGAAGTGATGGGTGGTAGCCACCCCTCTGACATGACTTATTAATGATAATTGGACCCAATTAAACATTTATTAAATCCAGACAGCTGCAGCCGCTAACGGACCCTTCCCTGATCCTGGGTGGGCCATGCTGGGGGTGGGGGTGCTCAGGATGGGCTGCCGCAGGGGCTCTGGGTTTTAACGTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCA
pathogenic
69
A genetic variant on chromosome 1, position 1041678, affects the gene AGRN (agrin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Congenital_myasthenic_syndrome_8', 'Presynaptic_congenital_myasthenic_syndrome']
GTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCCTGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGA
GTGCCTGAGGCAGCTTTGTTGGCCACGTTGAGGTCTGGTGATGGGACGTGTGTCAGGCGCTGTGGTCTGCAGCTGTAAGAACTAAAATGAGCAACAGTTCCTGCACCTCTCCAAGAAGGAAGTTCGCTTTGACAGAGAGTGAGGGCGATGGAGGAGGCAAGAGTGAGGTGGGGGGCCGGGGGATGCCCAGGGAGGAGGGGGCGTGTGGGTGCCCCAGGGATCCCAGGGAGCGATGGGAGGCTGCAGAAGGGCACAGGCCTGCCGCGGGTGGGGGGCTGGCCAGGGAGAATAGGAGATAGTAGAGGCGGAGGCCAGGAATTTGCACTTCTCCAGGGAAGCTGGGGAAGAGTTGGGGAGAGGGAGGCAAGAAGATTCCCCACCCATCTTAGGCGCAGGGAGCGGTCAGGGAGGCGCCAGAGGTGGGCCAGAGCTGTGACCTGGCCTCACACCCCGTCCCGGTGGGGCTCTCAGGCCCCTGAGGGCCAGACGCGGGACCTGGGTGCGACCCGGGCGGGAGGCGGCAGGGCTCAGCTGTGCTGGACGCTGCAGCAGCGCGGGAAGGGGCTCCCCCGGCTCCATGGGGTGAATCGGTGAGGGGCTCCGGTGCCGATGTGGAAGGAGCTCCTGAGCAGAACTGGGGCCTGGACTGCTTGTGCCCGAGTTGGTTTCGAGGCGTCTCTGCTTTTCGCTGGAGGCCCACGAGGTGGGTGGGAAGTGGGTGCTCGCCCGTCGCAGAAACAGAGTCGGGTGCCGCCTGCGGCAGACGCCCCTCTCCGCGCCTGCAGGTGCGGGGTGGGGGAGAAAGGTCATCCCTGGAGAGGCCCGGGGCTGGCGGGAATCCTCGGCGGGCGGGGTCTGCGAGGGGCAGGGCCGGTCCTGTGAGCGCACGCACGCGTGTCCGTGTCCGTGGTGGACCCCCGATGCGGCGCGGGGGCGGGTGAATGCGCGGGCTGCGAGCACGGCAAGGTCTCTCAGGCTTGTGGACGTGGGTACGGGCGTCTCGGCACCCTGAGCTTTCTCCCCTACCCGCCCCAGCGTGCCGGGGAATGCTGTGCGGCTTCGGCGCCGTGTGCGAGCCCAACGCGGAGGGGCCGGGCCGGGCGTCCTGCGTCTGCAAGAAGAGCCCGTGCCCCAGCGTGGTGGCGCCTGTGTGTGGGTCGGACGCCTCCACCTACAGCAACGAATGCGAGCTGCAGCGGGCGCAGTGCAGCCAGCAGCGCCGCATCCGCCTGCTCAGCCGCGGGCCGTGCGGTGAGCGGGGCGGGGCCGGTGCCTGGGGCGGGGAGGGGCGGGGCCTATGAGATGGAGCGAGGCTGGGAGGGGCTTCGGGGCCAGTGGGGCGGGGGCAGGGGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGGCGGGGCCTGCGGGGCCCGGCGGGGAGGAGCGGGGCTGGGAGGGGCCTGGGGGGCGGAGCGGGGCGGGAGCGGGGCGGGAGCGGGGGCGGGGGCGGCCCGTCTGACCGGCAAAGCCCCGCCCGCAGGCTCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCCTGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
80
A genetic variant at chromosome 1, position 1043223, affecting gene AGRN (agrin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
benign
TCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCCTGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGACCCTGTGGTGAGTGAGGCCCTGGGGCCGGGCGGGCCAGGGTCCTGTGCCTCCCTCAGCCTGGGCCTGCCGACCCCTGCCTGGCTCTGTCTCCTGCAGAGACCTGTGGAGATGCCGTGTGTGCTTTTGGGGCTGTGTGCTCCGCAGGGCAGTGTGTGTGTCCCCGGTGTGAGCACCCCCCGCCCGGCCCCGTGTGTGGCAGCGACGGTGTCACCTACGGCAGTGCCTGCGAGCTACGGGAAGCCGCCTGCCTCCAGCAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCGAGCAGGGTAGGCCGGGGGACGCTGGCGAAAACTGCTGGGCTCTGGCTTTGGACAAGAAGCCCCTGGGTGACTCTGCTCCCCTTCCCCGCAGCCGAGTGCGGTTCCGGAGGCTCTGGCTCTGGGGAGGACGGTGACTGTGAGCAGGAGCTGTGCCGGCAGCGCGGTGGCATCTGGGACGAGGACTCGGAGGACGGGCCGTGTGTCTGTGACTTCAGCTGCCAGAGTGTCCCAGGCAGCCCGGTGAGCTCTGTACCCCTGGCTCTCGGCGGGCGGCGGGGACGGGGCTGCGGCCGCTCACACTGACACCACCCTCCAGGTGTGCGGCTCAGATGGGGTCACCTACAGCACCGAGTGTGAGCTGAAGAAGGCCAGGTGTGAGTCACAGCGAGGGCTCTACGTAGCGGCCCAGGGAGCCTGCCGAGGTGAGCCGGCTGCACGTGGGGTCTCAGGCACAGGCGGGGCGGCGTCTGGGTTTCCGTGTCTGGATGTGGGCGTGCCCGTGTGCTGCGTTGGGCCCCTGTGGACGTGTGTATTGTGTTGTAAGTGAGCATCGTCCAGTGTTGGTGCCTGTGCACATTTGTGCAGCTGCGTGTGTGGGCGTGTGTGTCCATCAGTCAGTGGGCGTGCACCAGGCCAGGCCTCAGTGCTGAGAGGCAGCGTGAACCATGCGGGGCCCCACCGTGTGGGCACTTTCTCTGCATACGTCCATCCGGTCGATGTATCACATCAATTAGGTAAAAGTGGTGCCCGGTGTGTGTGATGCGCGTGCACAGATGTGTGTCTGCAGAGGGGCGTTAACTGTACGGTTTGGAGGAATGTGGGTGAGAACGCATGCTGACGTCTTCAGATGTCTGTTTCTCGATTTGCAAGGAAGCTCGCGTGTGTGTGTGCACAGAGCTGCGTGTCCGTGATCTTTGGATGCTCTGTGTGTTGTGTGTTCCTGGATCTGCATTTACAGACATGTTCTTGCGTAAGATGTGGGAGCCTCACCTGTGTCCTCAGCCCCAGGCTCCCGGGCTCCTCTGGGAGCTGGGATCGGGACGGCTGAGTGGTGACAGTGGGGGTAGGTGGAGGCAGACTGGCTGGGTCCAGGGTGGGTGTCCAGCACTGCATGAAATCTGAGTCCCGTACCCTTTCCTGCAGGCCCCACCTTCGCCCCGCTGCCGCCTGTGGCCCCCTTACACTGTGCCCAGACGCCCTACGGCTGCTGCCAGGACAATATCACCGCAGCCCGGGGCGTGGGCCTGGCTGGC
TCGCGGGACCCCTGCTCCAACGTGACCTGCAGCTTCGGCAGCACCTGTGCGCGCTCGGCCGACGGGCTGACGGCCTCGTGCCTGTGCCCCGCGACCTGCCGTGGCGCCCCCGAGGGGACCGTCTGCGGCAGCGACGGCGCCGACTACCCCGGCGAGTGCCAGCTCCTGCGCCGCGCCTGCGCCCGCCAGGAGAATGTCTTCAAGAAGTTCGACGGCCCTTGTGGTGAGCGCGGCGGCGGGCGCACGGCTCGAGCTCTGTGGGCGCGCGGCGACAGCGTCCTGACTCCTGCCCTCGACCCCCAGACCCCTGTCAGGGCGCCCTCCCTGACCCGAGCCGCAGCTGCCGTGTGAACCCGCGCACGCGGCGCCCTGAGATGCTCCTACGGCCCGAGAGCTGCCCTGCCCGGCAGGCGCCAGTGTGTGGGGACGACGGAGTCACCTACGAAAACGACTGTGTCATGGGCCGATCGGGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGGCCAGTGCCAGGGTCGAGGTGAGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTCCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCCGGGGGAGGGCTGCGGCCAGTGCCAGGGTCGAGGTGGGCGGCTCCCCTCTGGGAGGGCCGCCTGCTCCCCTGCTCCCTGCACATCCCAGGGCAGGGATGGAGGGTGCTCCAGCCTCTCCGTGACTCCCTCACCCCTGCGTCCTAGACCAGTGCCCGGAGCCCTGCCGGTTCAATGCCGTGTGCCTGTCCCGCCGTGGCCGTCCCCGCTGCTCCTGCGACCGCGTCACCTGTGACGGGGCCTACAGGCCCGTGTGTGCCCAGGACGGGCGCACGTATGACAGTGATTGCTGGCGGCAGCAGGCTGAGTGCCGGCAGCAGCGTGCCATCCCCAGCAAGCACCAGGGCCCGTGTGGTGAGCGCCCCGGGGTGGAGGCCAGGCGGGGTGGGCTGCTCCTGCGTCAGTCCCTGCCTGGACATCACATGCCATCTTCATCCATCATGTTCCTCTTGGGGTCCTGGGAGTGGGCCGGTCCCTCTGGGAAGGCTCTGGGGAGGGTGGAGCCTGTGTGCGGAGGGTACCTGGATACCTGGGGGCTGGTGAGGCAGAGGCGGGGCCTTGTCCAGGCTCCCTGGTCCCTGACCTCAGCCACGCCCTCCCTGGGAGTCCTCTGGCCTGTCCGCATGTCTCCACGCTGTAAGCACAGGCTGTTGGGGTGGGCAGGCTGGACACAACACCAGGGTCCTCACTCTTGGGACATGGGCAGCCGTCGGCCGTTTTGGAGGCAGTGTCAGGACTTGAAGGGCCAGGGGGAGGCAGTGGCCGTCGTGTCCCGTCGTGTTCGTCTTGGTCAGTTCGCCCATCTTCTGGTCTTTCTCTCTGCGTCTGTCTCTTCTCTTTGGTCTCTTCTTCCCTGTCGGCTCCGCCTCTTGTGTCTTCCAGCCTGACCTGCTGGCAGGATGAGGTGCCGTGCCTGCCCTCCAGGAGCCCGCAGCCCGAGGTCTGCCCCTGGTGCGGCAGGGGGGGTGGCTTGCTGCTGCCTGGCCTTGTGGTCCTCAGAGCAAGTGGACAGACACCTCCTCCCCCGTGCAGCCCTGGGTGTGACTCTGGGGGTGCAGGCTCCTCCCACCCACAGAGAGCCCCCCCACATGCATGGGTGTCCTGGGGATGCTGGTGGTCAGGGGTCAGTGGCCTGGGCAGGCTGGGGAAGCCTGGCCCTCCCATAGCCTGCTGTGGACAATCAGGAAGCCCCAAGCTTGGGGGCAGCCTCGCCCGCAGCCACCGGGGACTCCTGGGTGTGTGTTCCGCTCGCCTCTGCCGCGTGTCTGTCCCTTTCTCTGCCGTGTCTGCTGTGCATCTGGCCCTTCTCCTGTGTTCTCTCTTCCTCCACCATCCCCTCCCTGGAAGAGGGACTGCTGCGTGGGGCTGGGGGCTTTGCCTGCAGCGGAGGGGGGGCTTGTGGGACCACTGAGCCCGTGTCCTTCCCAGACCAGGCCCCGTCCCCATGCCTCGGGGTGCAGTGTGCATTTGGGGCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATGCCTGCAGGCGTGCTCGAGCCTCTACGATCCTGTGTGCGGCAGCGACGGCGTCACATACGGCAGCGCGTGCGAGCTGGAGGCCACGGCCTGTACCCTCGGGCGGGAGATCCAGGTGGCGCGCAAAGGACCCTGTGGTCAGTGGCGGGTGAGGGGTCTGGTGGGGGTCGGGGAGAGAGAGGTTCCTGGTCGCCTGGTGATGGAAGCTCCTCCCCAGACCGCTGCGGGCAGTGCCGCTTTGGAGCCCTGTGCGAGGCCGAGACCGGGCGCTGCGTGTGCCCCTCTGAATGCGTGGCTTTGGCCCAGCCCGTGTGTGGCTCCGACGGGCACACGTACCCCAGCGAGTGCATGCTGCACGTGCACGCCTGCACACACCAGATCAGCCTGCACGTGGCCTCAGCTGGACCCTGTGGTGAGTGAGGCCCTGGGGCCGGGCGGGCCAGGGTCCTGTGCCTCCCTCAGCCTGGGCCTGCCGACCCCTGCCTGGCTCTGTCTCCTGCAGAGACCTGTGGAGATGCCGTGTGTGCTTTTGGGGCTGTGTGCTCCGCAGGGCAGTGTGTGTGTCCCCGGTGTGAGCACCCCCCGCCCGGCCCCGTGTGTGGCAGCGACGGTGTCACCTACGGCAGTGCCTGCGAGCTACGGGAAGCCGCCTGCCTCCAGCAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCGAGCAGGGTAGGCCGGGGGACGCTGGCGAAAACTGCTGGGCTCTGGCTTTGGACAAGAAGCCCCTGGGTGACTCTGCTCCCCTTCCCCGCAGCCGAGTGCGGTTCCGGAGGCTCTGGCTCTGGGGAGGACGGTGACTGTGAGCAGGAGCTGTGCCGGCAGCGCGGTGGCATCTGGGACGAGGACTCGGAGGACGGGCCGTGTGTCTGTGACTTCAGCTGCCAGAGTGTCCCAGGCAGCCCGGTGAGCTCTGTACCCCTGGCTCTCGGCGGGCGGCGGGGACGGGGCTGCGGCCGCTCACACTGACACCACCCTCCAGGTGTGCGGCTCAGATGGGGTCACCTACAGCACCGAGTGTGAGCTGAAGAAGGCCAGGTGTGAGTCACAGCGAGGGCTCTACGTAGCGGCCCAGGGAGCCTGCCGAGGTGAGCCGGCTGCACGTGGGGTCTCAGGCACAGGCGGGGCGGCGTCTGGGTTTCCGTGTCTGGATGTGGGCGTGCCCGTGTGCTGCGTTGGGCCCCTGTGGACGTGTGTATTGTGTTGTAAGTGAGCATCGTCCAGTGTTGGTGCCTGTGCACATTTGTGCAGCTGCGTGTGTGGGCGTGTGTGTCCATCAGTCAGTGGGCGTGCACCAGGCCAGGCCTCAGTGCTGAGAGGCAGCGTGAACCATGCGGGGCCCCACCGTGTGGGCACTTTCTCTGCATACGTCCATCCGGTCGATGTATCACATCAATTAGGTAAAAGTGGTGCCCGGTGTGTGTGATGCGCGTGCACAGATGTGTGTCTGCAGAGGGGCGTTAACTGTACGGTTTGGAGGAATGTGGGTGAGAACGCATGCTGACGTCTTCAGATGTCTGTTTCTCGATTTGCAAGGAAGCTCGCGTGTGTGTGTGCACAGAGCTGCGTGTCCGTGATCTTTGGATGCTCTGTGTGTTGTGTGTTCCTGGATCTGCATTTACAGACATGTTCTTGCGTAAGATGTGGGAGCCTCACCTGTGTCCTCAGCCCCAGGCTCCCGGGCTCCTCTGGGAGCTGGGATCGGGACGGCTGAGTGGTGACAGTGGGGGTAGGTGGAGGCAGACTGGCTGGGTCCAGGGTGGGTGTCCAGCACTGCATGAAATCTGAGTCCCGTACCCTTTCCTGCAGGCCCCACCTTCGCCCCGCTGCCGCCTGTGGCCCCCTTACACTGTGCCCAGACGCCCTACGGCTGCTGCCAGGACAATATCACCGCAGCCCGGGGCGTGGGCCTGGCTGGCNN
benign
90
Clinical classification of chromosome 1, position 1048791, gene AGRN (agrin): benign or pathogenic? Disease(s) if pathogenic?
benign
GGGATCAAGGACTTGGGGTGGGTGGGCAGGCGCCGAGAGGCTCCACCAGAGCCTGGGCTCAGAGCGCGTCTCCCCAGGGCTCGAGCCCTTGGAGGGCAGCAGCGTGGCCACCCCTGGGCCACCTGTCGAGAGGGCTTCCTGCTACAACTCCGCGTTGGGCTGCTGCTCTGATGGGAAGACGCCCTCGCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGG
GGGATCAAGGACTTGGGGTGGGTGGGCAGGCGCCGAGAGGCTCCACCAGAGCCTGGGCTCAGAGCGCGTCTCCCCAGGGCTCGAGCCCTTGGAGGGCAGCAGCGTGGCCACCCCTGGGCCACCTGTCGAGAGGGCTTCCTGCTACAACTCCGCGTTGGGCTGCTGCTCTGATGGGAAGACGCCCTCGCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGNN
benign
166
Gene AGRN (agrin) variant at chromosome 1, position 1048977—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Congenital_myasthenic_syndrome_8']
GCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCAGGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGG
GCTGGACGCAGAGGGCTCCAACTGCCCCGGTGAGTGGACGGCTGGGCGAGGGGAGTGTGAGGATAGCCTGGGCTCGGCCGAGGTGCTGCCCCCTCGCCTGGGCAGCAGGTCAGTGCCGGGGGTTATGGTCTTGGGACTCGGCCCCCTCAAACATGTGCGTGCCGGGGACCCCACGCCTAACCCGTCTCTCTCGTTGCAAGCCGGTGTGGCACACTGCTCTGAGGAGTCCTCCTGGTAACCGACACCAGCCCCACCCTGGGGTCCCCACTAACCTCATGACCATCTGACTAACATCCACCTTCCCTTGCACCCTTGTGGCTTGCTGCTGGGGCCTGTGCCTGGGCCAGCCTGGATGCCAGGCAGATGCCAGGCAGGGCCTCACTGTACCTCCCCCACAGCCACCAAGGTGTTCCAGGGCGTCCTGGAGCTGGAGGGCGTCGAGGGCCAGGAGCTGTTCTACACGCCCGAGATGGCTGACCCCAAGTCAGAACTGTTCGGGGAGACAGCCAGGAGCATTGAGAGCACCGTAAGACGGGGGCGCAGCCCCCACCTACCCACTGGCCTTCCTCCCCAGATACCCAGAGCAGCACCAGGGCAGCCCGGCTTGGGCGGCCCCCCAAGTCCTTGCCTACTCCCTGCCACAGCTGGACGACCTCTTCCGGAATTCAGACGTCAAGAAGGATTTTCGGAGTGTCCGCTTGCGGGACCTGGGGCCCGGCAAATCCGTCCGCGCCATTGTGGATGTGCACTTTGACCCCAGTGAGACCTGCACCCTGGACCCTTCCTGGGAGGCAATGGGTGGGGGATGCCTGGGGCTCTGCCATGCTCAGAGCTCCCTCCTCCCCAGCCACAGCCTTCAGGGCACCCGACGTGGCCCGGGCCCTGCTCCGGCAGATCCAGGTGTCCAGGCGCCGGTCCTTGGGGGTGAGGCGGCCGCTGCAGGAGCACGTGCGATTTATGGACTTTGGTGAGCGCCAGGCCACGAGCCACAGCTTACCTGCCCCCTCCTCTGCCCATGCCCCTGCCCCTCACCCCTTCCTGGCCCTGCTCCCAGGAAACCCTAACAGCTCCCTGTGCCGGCAGACTGGTTTCCTGCGTTTATCACGGGGGCCACGTCAGGAGCCATTGCTGCGGGAGCCACGGCCAGAGCCACCACTGCATCGCGCCTGCCGTCCTCTGCTGTGACCCCTCGGGCCCCGCACCCCAGTCACACAAGCCAGCCCGTTGCCAAGACCACGGCAGCCCCCACCACACGTCGGCCCCCCACCACTGCCCCCAGCCGTGTGCCCGGACGTCGGCCCCCGGCCCCCCAGCAGCCTCCAAAGCCCTGTGACTCACAGCCCTGCTTCCACGGGGGGACCTGCCAGGACTGGGCATTGGGCGGGGGCTTCACCTGCAGCTGCCCGGCAGGCAGGGGAGGCGCCGTCTGTGAGAAGGGTAAGGATGTCCACTGCAGAGGAGGGCGGGGAGGCAGCAGGGTGGGGGCAAGGATTGGGGGTGGGGCTAAGCCACCATCAGGCTTTGAGTTGGGGGCAGGAGCCCGGATTAAGGCGGGGTTTCGGCCAGATGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGACACTCTGTCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCACCTCGTGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGCAGGCGGAGGTTGCGGTGAGCCAGGATCGCGCCACTGCACTCCAGCCGGGGCAAAAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGCGGTTTCAGGGATAAAAGTGGGGAATCCTCGGAGCTTTTCCAGCCGGCCCTCCCGGTCGCCCTTTGCAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCACACGCTGCGCCTGGCACTGGAATTCCGGGCGCTGGAGCCTCGGGCTGCTGCTGTACAATGGCAACGCCCGGGGCAAGGACTTCCTGGCATTGGCGCTGCTAGATGGCCGCGTGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAGCTCAGGTAGGCGGGGTGGGGACGGGGCCGGGCGATGGTCCTGAGCACCTGCTCCTGCCCTCAGGTTTGACACAGGTTCGGGGCCGGCGGTGCTGACCAGTGCCGTGCCGGTAGAGCCGGGCCAGTGGCACCGCCTGGAGCTGTCCCGGCACTGGCGCCGGGGCACCCTCTCGGTGGATGGTGAGACCCCTGTTCTGGGCGAGAGTCCCAGTGGCACCGACGGCCTCAACCTGGACACAGACCTCTTTGTGGGCGGCGTACCCGAGGACCAGGCTGCCGTGTGAGTCCCTTGGAGGGTGGTGTGGCCCCGACCCCGGCCCTTTGGGGTCCCGGTGTACGAGGTGGCTTTGCCTGTGGCCCCTGAGCCCTGACCCGGTGTCCCTCCTGGTGGCAGGGCGCTGGAGCGGACCTTCGTGGGCGCCGGCCTGAGGGGGTGCATCCGTTTGCTGGACGTCAACAACCAGCGCCTGGAGCTTGGCATTGGGCCGGGGGCTGCCACCCGAGGCTCTGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACCCCTGCCATGGCGGGGCCCCATGCCAGAACCTGGAGGCTGGAAGGTTCCATTGCCAGTGCCCGCCCGGCCGCGTCGGTGAGGGTGGGGCCGGGGCGGGTGGGAGTGGGACCCCGGGGCCTGTGGGCGGTACCCAACCGACGCCTCCTGGGACCTCGGTCCCGGTCCCGTCTTCCTCCATCCAGGACCAACCTGTGCCGATGAGAAGAGCCCCTGCCAGCCCAACCCCTGCCATGGGGCGGCGCCCTGCCGTGTGCTGCCCGAGGGTGGTGCTCAGTGCGAGTGCCCCCTGGGGCGTGAGGGCACCTTCTGCCAGACAGGTCGGGGGCGTGGGGCTCTCGGGGCAGGGGGGGGGGGGGGGTTGAACGTTTGGGCGGGTACAGGTTCCAGGTAGCATTGCAGTTAGGATGCGGCTCAGTCTAGTCTGGGTTTTGAGTTAGGATCCACACACGGCTGGCATGGGGTGCAGGAGGCCCCGGGGGTCAGGACTGAGGCCTTGGTGACTCTCCCTACAGCCTCGGGGCAGGACGGCTCTGGGCCCTTCCTGGCTGACTTCAACGGCTTCTCCCACCTGGAGCTGAGAGGCCTGCACACCTTTGCACGGGACCTGGGGTCGGTGGGGCAGGAGCAGGGGGAAGGGCCGGCCCCCACCTCCGTCTCTCCTGTGGGGAGGGGACAGCAAAGACACCCCGACTCCCCATGACCCCAGGGAGAAGATGGCGCTGGAGGTCGTGTTCCTGGCACGAGGCCCCAGCGGCCTCCTGCTCTACAACGGGCAGAAGACGGACGGCAAGGGGGACTTCGTGTCGCTGGCACTGCGGGACCGCCGCCTGGAGTTCCGCTACGACCTGGGCAAGGGGGCAGCGGTCATCAGGTGGGCCGGCAAGGGTGGCTCTGGGAGGCCTGGGGCACTGGCCCGGGGCCGGGGCACCAGCAGGTCGCTCAGGCCCTGGGTGGTCGCGTGGCCGGTGGTGGACAGAGCCCACTCACGCTGCCCCTCCTCACCAGGAGCAGGGAGCCAGTCACCCTGGGAGCCTGGACCAGGGTCTCACTGGAGCGAAACGGCCGCAAGGGTGCCCTGCGTGTGGGCGACGGCCCCCGTGTGTTGGGGGAGTCCCCGGTGAGTGCTCTGGGCCGCGAGGGGACTCCCGCTGCTGCCTGCTCTTCCTCCTCGGGCGGCAGCCCCGCCCCTGCCGGCGCTCACGGAGCTGTTTTTCTGTCCTGTTCTCTTGGCCGCCTGCCCTGTCCTCTGCCTCCTCTGCCTCCCTGCTCTCTGCTCTCGCTCTGCAACCCCACCCGCTCTTCGGNN
pathogenic
172
Does the variant impacting DVL1 (dishevelled segment polarity protein 1) on chromosome 1, position 1338096, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Autosomal_dominant_Robinow_syndrome_2']
TCCTGGCCCCCACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCAGGGGGCAGCCGGGTGGGGCAGCGGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGC
TCCTGGCCCCCACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCGGGGGCAGCCGGGTGGGGCAGCGGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCN
pathogenic
327
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 1338107, gene DVL1 (dishevelled segment polarity protein 1): what disease(s) if pathogenic?
pathogenic; ['Autosomal_dominant_Robinow_syndrome_2']
ACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCAGGGGGCAGCCGGGTGGGGCAGCGGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCT
ACGAAGGCAAGCCCACGCGAGCTCTGCATGCGGCAGGACCGCCAGCTCCCCACCTCAGGCAGGGCTGGGGCATGCGCCACGAGTCACATGATGTCCACGAAGAACTCGCAGGGGTTCCCCATAGCCTTCTGGAAGGACTGGCGGCTGCCTGTCAATTCCGGGGGGACGGCAGCCAGCTCCCGGACAGGGGGTCCCCCGGGTGGCCCCCCCACCACTGTATAGGCCTTGGTCGTGGGGTGGGGCGGGGGGAGCCCCGGGGCGGTAGCCGAGGCCTGACTGCGTGGGCTGCTGCCACGGCTGAGCTGGCCGGCCGGACGCTCTCGCCAGCTGCTCCCCACCCCACTCGGTGCCGTGTGATCCGATTCACTGCCACTGCCCCCAGCTCCCGCCGCCCGACGCTCCTTCTCACGGCCCGGGGCCCGGCGGCTGCTCCGGGTGGACCCACTGCTTTTGCTCCCTGGGAGTGAGAACAGGATGGGGAAGGAGCCTGTCAGCACCAGGCCCGGCCACGTCCAGAACAACCGCCCCCGCCAGGTGACCGGGCAGGAACGGTGGCCCGTGCAGGACGGGTGGGTGGGGCAGCCATGCAGGCGCGAGGACAGGGCCGGCACCCCCAGGGTCGCAGGGGCAGCTGCGGCAGGCATGGGCTGGTGGGGGCAGTGGGAGGCAGGCAGGGTCCTGGGGCAAGCTGGGCGCCCCCACACCTCACCCCGATGCTTGAGCTGAGGGCCTGGTCTTGCGGCTGAAAGACTGAGGTGCCAGCGAGGGCCCCTCATGCCCGGTGCCCCCGTGGCCATCCTGGATTCCCCACCCAAGGCCCCACTGTCCCCCCGGCCCAGGACCCTGGCCGACGGATGACTCAGCTCAGCCCTGTCCTGGGCTCCCAAGACGCAGTGGGAGCTGGAGGGCGTGGCTGGCTGGGGACATGCTGAGGGACCCCGGGCGGGACCCTGGCTTACCGGCCCAAGGTCCGCTCCGCTAGTCCTTCAGTCTAAGGCTTGTTTAGCACAAGACAAGGGATAGCACGAGTTACACGCCCGGCTGCCTGGCACCTGCCCAGCACCCACCCGCCACCAGTGGGGACTGACCGCGGGCTGGGCGGGGCTGAAGTGGGCGCAAGCGCCGGTCGAGGGTCAGTAGACACCCAGCGTGGCTTCTCTGCGGTCCCACACCCTCTGGCCGCCTCTCCTCTCTCGCCCTCCTTCCTGGGCCCTCCACGAAGCCACCTGCACCCCTCCCTGGCCTGCAGACGCCCCTGCTGGCCTCACCAACCCCACCCACTGGGGCCTCTGCTCCACCAGGCAACACCTCAGGAACACTCTGGATCCCCGGCCCCTAAACACACCCCAGCCAGGGGCACAAGGCTAGGATGCACGGCACCATCCACGTCAGGCTCCCTACCCGGGCTGCAGCTGCCACCCTCCTGTGTCCTGGGGCCTAGAAAGTGACCCTGTCAGACTCCTTGGCCACCCCTGCCCTGTCCTTGTCACATGGCCCATGGCCACATGGTCTCAGGGCCTCCTGCCTCTACCATAGGAGAACCACCAGCCGCCACCCCTACCAGGCACAGCCGCCCAGGCCGCCAGGCTCCTGGAGGCCCCTCATCCCAATCCCACCCAGATGAGGTGGGGTCCAGGCTGCCCCTGTGTGAGACGCTTCCCTGTCCTCCCCATTCACACTGGCTCCTGGATCCCCCTGGCACTTGCCTTTTCCAGAAGGAGCCCACCCAGGGCCCAAGTACACAGCAGGAGCATGGGATTGGGGTCAGCAGAGAAGCAGGGCGGAGCAGCAGCGGGGTGGGGTGGAGCTGGGGGTGGAGCAGCAGCGGGGTGGGGTGGAACTGGGGGCGGAGCAGCAGTGGAGTGGGGCGGAGCTGGGGGCGGAGCCGGGGAAGGGCAGGTAGGGGCGGCGTTCTCACCTTCACTCTGCTGACTCCCGGTGCTGCCGCTGCCATAGCTAAAGCCCGGGTCCTGGTAGGCAGGCGGGAAGCAGGGTGGGGGTCCCGGGTACTGGTAGGGGTAGCCCTGACCCAGAGGCCAGGGGGCAGCCGGGCCAGCGTGTCCTGATCCGAAGTCCCACTGGAGCCACTGTTGAGGTTCAGGGTGGCGAGATCTGGCGGGGGAGGGTAGGTGAGGGCCGCGGAGGGGCCTCCGGCGTTCCCCTCCCCCCCGCCCTGAAGCCCGAAGCCCCCACTCACTGCTGCAGAGATCCCCGAAGACGTAGTAGCACTGCTCGGAGAAGGTGATCTTGTTGACCGTGTGCCGCAGGAAGCCGTGCTTCAGCAAGCTGCTGGCGTACTTCCGGGCCTCCCGCCGCTCCTTGAAGCCCTCCACGTGTGTGTACAGCCAGTCCACCACGTCCGCCCCTGGCCGGCACCAGCGGTCAGCCCGCAGCCTCGAGGCAAGCAGCCCTGCCCCTGGCACTATCCGCCCGCGGGGACGGCCACTCACCGATGACGGCATTGGCGATGGTGATCTTGAGCCACATGCGGTCGCGGATCTCCAGTCCCGAGTCTGGCAGCTGCATGACCCGGACGACGGCGCTCATGTCACTCTTCACCGTCAGCGGCGCCTCTTCCAGCTCTGCAAAGCACAGACAGCCCCGCTTCAGCCCCAGCATCTGAAGGCGGGGGACTCAGGGCCCTGCACCCCCAGGGGAGCCTCTGGGCAGAGCCTGCGCCAGGGCGCAAGCTGGACGGTGCGTGACAGCAGGGCCCCGGCCCACTGCAGGATGCACCCCCGTGAGGCTGGGGCGTGAGCAGGGGGGTTGGACATTTAGTCTCCCACTTCTACAGACACTTTTCATCAGGATCCTAGGCACAAACTGGGCTGACACCCCACCCTGCAGACCAGGAAGTAATGAGAACAGGGCAGGCCCCTTCCCCTCCCCGCATGCCCCACCCGAGAGCGCAGGCTGTTAGTCGTGTTAATGGCAGGAAGCAGAATGGAGACCTGGCCCCTGCCTCTGACGCCGTGGGTGCTCCCCGCATAGGGGCCCTACGTACATCCCCTGTTCCCAACACACAGACCATGAGCAGGATGGGCTGCACAAGGTGGGCACGGGTGCCTGTGCACACGTCTGTGCAGGGAGTTGGGGACAGGCAACACACACGTGTCACAGCCCCATGACGGCCACAGGCGGCCATGCTGGAGGCTGGCAGAGACGCCCCCTCCAAGCCTCGGTTTCTGCTGGGGCCCTCAGGAGCTGCCACTTACGTGGAGCACCAGGCACGGAGCTGGTTAGTGAGGAGGAGCTGGTGCGCGTGACGGCGCTGGAGCAGGGACTCGTACCGTAGCGGGGCAGGGCTCCTGTCAGTGCCGCCGTGTGGGACAGCCAGGCGGCGGGGTCGATGGGCCGCACCGGGTCAGCTGGGTGGCCGCCACGTGGCGATGACAGGCGGACAGATGGACAGGGTGGGAGGGCAGGGTGCAGGGCACAGAGGAGAGAGGCCTTCAGGCTAGGTAGGCGCCCCCTCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTNNNNNNNNNNNNN
pathogenic
328
Gene DVL1 (dishevelled segment polarity protein 1) variant at chromosome 1, position 1341593—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
benign
TCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTGAGGG
TCCCCATCCCGCCCCGTGTGCCCCGAGGGCCACTCACCCCGTGGGACGGTGAAGTAGCTTCGGGGCGTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTG
benign
354
Is the chromosome 1, position 1341659 variant in DVL1 (dishevelled segment polarity protein 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
benign
GTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTGAGGGCAGGGCTTTGCCTGACCCCTGCCCTGCACCCCTAGTCAGGCTCACAGTCCACCTACAAGGACTCTC
GTTGGGTCCCAGCACTTGGCCACAGTGAGGCTGATGGGCCTGCAGGAACGGTGGTCACACAGCAAGGCCCCCATGGTCCCACCTCCCTGCCTGGCCCCTCCCGCTCCAGCGCCCCCAGCCCTCACCCCGTCTGGGAAACGATCTCCCGCAGCACCCGCACGGCATCGTCATTGCTCATGTTCTCAAAGTTCACGTCATTCACCTGCAGGGGTGGGGATTAGGGTGGTGCAGGCAGGATGTGCAGCTCAGTCCACCGCCCCCGCAGACCCACCCACAGCCGCATGTCCCCCAGCAGCCCCCGCAGACCCACCCGCAGCCGCATGTCCCCCAGCAGCCCCTACAGACCCACCCGCAGCCGCACGTCACCCCAAAGTCCCCACGGACCCACCCGCAGCTACATGTCACCCCGCAGCCCCCACAGACACACCTGCAGCAACATGTCGCCGGGCTCGATGCGGCCGTCAGCGGCCACAGCCCCGCCCTTCATGATGGAGCCAATGTAGATGCCGCCGTCTCCACGGTCGTTGCTCTGCCCCACGATGCTGATGCCCAGAAAGTGATGTCTTTCTGCAGGAAGAGCCATGAGCCGCGGCCAAGCCCCTGCCCCTGCCCCCAACCCTCGCCCCGAGGCCTCACCCATGTTGAGCGTGACAGTGACGATGTTGAGGGACATGGTGGAGTCGGTTATGCTGCTGAAGGAGGAGGCCTATGGAGGAGAGGGGGCGTGTGTAAAAGGCACGGGGCTGCCCGACACTGACTTCGCCTCCCCAGCCCCGCCCTGCTCCACCCGGCTGCCTACCCGGTCCGCCTGCCGAAGGCGCTGCTTCCTCCGCCGGCGTTTGTGCTTCCGGATGAGTCTGGATGAGGTGCTCTGCTCCGTGGAGCTGCTGAGCCTGGGAACAGACTGTCAGAGCTCAGAGGAGCTGGAGACATGGGTAGGGGGGTGGGAACCCGCTCCCCCAATACTGAGTGGGAATCGGGGGTCTAGGCCAGGCTTGTTCCAAAGCAGGCTCAGTGCCTGACGTCCACGCCCCAGGCCCTGCACACGTGATATGCATATGAGCACACACGAAAATCCCAGAGACAGGCAAACTGGGCACAGACACATGTAGCCAGATCCACTACTGACACACCTGCACACATGCACACCTGCACACACATGCACACCTGCACACACGCACCCCTGCACAAGGCACACATGCACACACCTGCACACACACCTGCACACACGCAACCCTGCACACATGCACCCCTGCGCACAGGCACACATGCACACCCCTGCACACGCACGCATGAACACACGCACACCTGCACACGCATGCACACCTGCACACACGCACCCCTGCACACTACACACCTGCACAGGCACACATGCACACCTGCATACTCACCTGCACACGCACCCCTGCACAATGCACCCCTGCACACACGCACCCCTGCACACACATGCACACCTGCACACACGCACCCCTGCACACAGGCACACCTGCACACACCTGCACACGCACGCCTGCACATGCACACCTGCACGCACACCTTCACATACACCTGTACAAGCACACCTGCACACACGCACATCTGCACACGCACACCTGCACACACGCACACGCACACATGCACACACCTGCGCACACGCGTGCATTGTGAAAACGCTCACGTGCACACTGTGAAAACGCACCTCACACACACATACATGCACACACAGACATGCGCATCATGTACATAAACGTTTGCACACAGGTACATGCACAGACACATCCGCAATGTGAAAACGCCTCACACAGACACACATGCACAAGCAGACACGTGCATCATGTACACGTTTGCACGCGGGCACACACACAGGCGCGCACACACGTGCACAGTGAAAACACCTCATGTGGAACACGTGCACAAGCACACGTGCATCATGTACACAGACATTTGCAGGCACACACATGCACACACACGCACACACGTGCAATGTGAAAACACCTCATGCAGACACATGCACATCATGTACAGACATTTGCAAGTGGGCACACAGGCATACACGCCCACAGACACTCCCACACCTGCTCGTGCTGCCATCCTCGTCCGAGTCCACAAAGCTGCTGGACTCAAGCTCGCTGCTGAGGGCGGTGGACGCGCTGTCTGGGGGCAGCCCCACATCCCGCCGTCGGTCTCCCCTTGGGTGCCCATTGGTCCGGGCGGCTGTGGGGGCAGCAGGTTGGGAACTGACTGCAGGGTCTCCCAGAGGTCATGGGTTTGGGGCTGCCTGGGCAGTGCTGCATGCCTGTGGGTCTGGGAGCTGGCAGCTCAACTGTAGGCTCGCTGGGCCTGTGCCTCCACCCAAGCACCGCCACTGGCTGGGGGACAGGAACTGCTGTAGTAGGAACATGGCTCATGGGGGTCCCAGGGAGGCTGGGGGTCCACAGCTGGGCAGACATGACCACTGTACCCTCCTCGCGGTTCCGGCGTCGGGCACGCTCCCGCCGGTGACTGACCATGGACTCCGTGCCTGTCTCGTTGTCCATCCCGTCACGGCTGCTGGCCACATTTGGGCTGTGCAACAAGAGCAGGGTGGGTGGGGAGGCCGTGGCCCCAGCCCCTCAGATGCCGCCCAGCCCAGCCTCCCCTCGCCTGTGGGACCCCAGCCCCAGCAGGTGCCACGCCCGCCTACTGGCCCAGGCAGGCCTCCCTCCCCTGTTGGCCAGCAACCCCCATGACAGGCTTGGGGTAGCAGGGCCCAGCGCCCACGGTGTCCTTACTGGAAGGAGGGGGGCCGGGAGTCCCCGATGCCGCCTGTCCGCTCAAGAGGCGGGGGCAGGTCTGTGTGGCTGTCCGTGCCCTGGGACCCCGCATCCGAGTGAGCACCCTCAGCCAGGACCAGCTGTGGAGGGAGCAGGCATGCTCAGGGGAGCCCACCCGCCTTCAGGACGCCTCCTCAGGGCACCCAGGGAACAGGGGGCCAGCAAGCTGCCCTATCCGCACCCAGCCTGCCAGGGCCTCCCCACACCCACCGCCTCCCCCAGGAAGAGCCCCACCCTGGAATGCTCCCCAGGCGAGCCTTCGGGGCCAAGACACAGGGGCTCACCCAGGAGACCACGCGGCCGTTGAAGCAGGGAAGCTTGGCATTGTCATCAAAGATCTCCTCCTTCACCACCCTGTGGGCATATGCTGCCGTGAGGCCCCACCTGGGGGGCCCAACCCTGCGGTTCTAGAGGTGAGGCCTGGAGAGCAGGCGCTCCTCCTGCCCACACAATGTCACTCTGTGGACACCCCTGCTAGCGCATTCTCCTCTTGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGCCAGTCACTCTGCGGACACCCCTGCTAACGCACTCTCCTCTCGGGAACCGTCCTTCCTCTCCGTCACATCCTGGGCCCCCACCCCCCCAGCATGGGGACAGTGGCTGTGGACATCCTCACAGGGGCAGCTCAGCCAAAGGCTCTCAGTCCCCTGCAGCGTTGGTCCCCAGCCCCCAGGTAGGAGGACAGCTAGGGTGAGGCCTCCTTGGGAAAGCCCCCGTGCCCAGCTGCCCTCGGTTCATGTATGTGGTGGCCCCAGACGCTGTCTCCAACCACCCCCACCTCATCTGTTCCTGGGGCTTGGAGCCCCCCCCCCCCAGGGCTTCCCCCACACTGGGACTCCTCAGGGCCAGGCCCCAGCCTCCTCAGCAGCAGCAGCTGCACCTACCGGGCCCCAAGGCTCCCCAGGCTATTCCCTGTCCCTTGCCCCAGACCTCAGGTCCACCGCTCCACCTCCCAGCCAGCTCCAGACCAGCCGCCCACCCCTCAACAGCCAGGGCATCAGGCCACCTGCACCCACCCCTGCACTCAGACCTGTCATTCCCAACCAGGAGCCCAAATCCCCCAGCAGCCTCCTCTCCATCATGCCAGCCATGCCCTATGGCCCTACTCCACCCTCCTGGCGTCTCAGGAGCAGCCTCAGGTCCCAGGCCCTGTGCCTGCCTGCCCAGGGTCAGGCTCTGTGAGGGCAGGGCTTTGCCTGACCCCTGCCCTGCACCCCTAGTCAGGCTCACAGTCCACCTACAAGGACTCTCNN
benign
355
Clinical classification of chromosome 1, position 1435798, gene VWA1 (von Willebrand factor A domain containing 1): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Neuromuscular_disease', 'Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7', 'VWA1-related_disorder']
CCACGTCCCTCCTCCGGGGTGGAGACAGCGGGGGGAGGGCAGGACACAAGAATGAGTCCTGAAGACTGAGGGGCACGGGGAGAGCTGATGGGGAGGGTCTCCTAGCTGGAGGGACTCCAGGCAGAGCCGGGAGCAAGGCAGGTGGCTGAGCTCGGCCCAGGCTGGGTGGAGGCCAGGCCTCCTGTGCCTTCTCCCGCTGATGGCGAGCTGAAGGGAGGAGGGCGGCCGCTTCCTTGAGGGCCTGAGTCACAGCCAAGAAGACCCGCTCACTTTTTCCAGAAGTGAGGGAAACTTCCCCGTCAGCCCTGCAAGGCTGGCTGAGGTGTGACTGTGGCCCGCCTGCTGGGCGAGGGTGGGGGACAAGCGGGCCACTGGCTGTGAGCCTCCCCAGGGTGGGGGACCCTCGGCCCAGCTCCCTGCCTGACTACCTGGACGTGCCTCCGCAGGGTCTGCAGCCAGCTTCCGGTCAGACCCCAGGTCCTCCAGCGGCTGCGGCCTTCAGCGTCATCTCCACGGCAGCCCCTGTGTACTGGGGGCTGGGGGGCCTGGCGAGGCCCCTCGAAGTGGTACAGCTTGCACTCTGGGGACCCAAAGTCCCCCCACCGGGCCCAGGCGGAAGCACCAGGCATTTCTGGTCCCAGCCGAGGTCTGAGGTCTGTGGAGCGCAGCCAGCACCTCCACTGCCAAGATCCCCGGCAGGGGGGGTGGGGGGCGCCGGCGGGGACACAGCTCTCCCTTGTTCCTGCCGCCAGCTCCTCAGCCTCAGCCTGCTGCTTCCTTTTTTAGGCAAAGTCGAGTGCTGGCCGTCCGCACGGCCCCGCGGTGTCTCACCTGCCTGAAAGGGAGGAAGGAAGCCTGTGGAGCCCCATCCGTTCTCCCGCGGCGCATCCTCCAGGAGAGGGTGGGGAAGGAGGAGACATCCTGGCAGACACCCCCCCACGTCCCCCACCTCCCAGCTCTGAGCTGAGGAGGCCCTGGAAGAGGGCCATGGCTACTCCGAGGGAGGGCCGGGGTAGGGTTCTCCTGTCCAGGGGACACTGCTGGCCCAGCCCCACCCAAGCAGGGGAAATCTGCCCTGGGAGCCACTGTCCCTCAGGACGCCCCCTGCAACCAGCCACCTCTCGTCTGGGCCTCACCAAGACCCCAAGACTCAAGAGCTCCTGTCTCACCAGTGGGACCCTCCAGTCCTGCTGGGGGTGTGTCCTGGGTCCTGGAGTCTGGGCCCCTCACTGGGTAGGGTATATGGGTAACAGGCCCAGTGTGGTCCCACTGGACAGGGCCTCAACCAACCATCTCCCACTCCCATGCCTCTTCCTCCAAGAAGCCCAGGTGGCGTGGGTGCTTCGAGTCTCTCTCGAATTCCTGTCTTCTGTCCCCTTTCAAGCCACTGTGTCCTTGTAAGTTCCACCCCATGGTCCTTCCCATCCCTGCTGGTCAGTCCCTGGGATACATGTCCTGTTACTCCAGACACCTATCCGCCTCCAGCGCGGAGGCCAAGGCGAAACCACGGTCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATG
CCACGTCCCTCCTCCGGGGTGGAGACAGCGGGGGGAGGGCAGGACACAAGAATGAGTCCTGAAGACTGAGGGGCACGGGGAGAGCTGATGGGGAGGGTCTCCTAGCTGGAGGGACTCCAGGCAGAGCCGGGAGCAAGGCAGGTGGCTGAGCTCGGCCCAGGCTGGGTGGAGGCCAGGCCTCCTGTGCCTTCTCCCGCTGATGGCGAGCTGAAGGGAGGAGGGCGGCCGCTTCCTTGAGGGCCTGAGTCACAGCCAAGAAGACCCGCTCACTTTTTCCAGAAGTGAGGGAAACTTCCCCGTCAGCCCTGCAAGGCTGGCTGAGGTGTGACTGTGGCCCGCCTGCTGGGCGAGGGTGGGGGACAAGCGGGCCACTGGCTGTGAGCCTCCCCAGGGTGGGGGACCCTCGGCCCAGCTCCCTGCCTGACTACCTGGACGTGCCTCCGCAGGGTCTGCAGCCAGCTTCCGGTCAGACCCCAGGTCCTCCAGCGGCTGCGGCCTTCAGCGTCATCTCCACGGCAGCCCCTGTGTACTGGGGGCTGGGGGGCCTGGCGAGGCCCCTCGAAGTGGTACAGCTTGCACTCTGGGGACCCAAAGTCCCCCCACCGGGCCCAGGCGGAAGCACCAGGCATTTCTGGTCCCAGCCGAGGTCTGAGGTCTGTGGAGCGCAGCCAGCACCTCCACTGCCAAGATCCCCGGCAGGGGGGGTGGGGGGCGCCGGCGGGGACACAGCTCTCCCTTGTTCCTGCCGCCAGCTCCTCAGCCTCAGCCTGCTGCTTCCTTTTTTAGGCAAAGTCGAGTGCTGGCCGTCCGCACGGCCCCGCGGTGTCTCACCTGCCTGAAAGGGAGGAAGGAAGCCTGTGGAGCCCCATCCGTTCTCCCGCGGCGCATCCTCCAGGAGAGGGTGGGGAAGGAGGAGACATCCTGGCAGACACCCCCCCACGTCCCCCACCTCCCAGCTCTGAGCTGAGGAGGCCCTGGAAGAGGGCCATGGCTACTCCGAGGGAGGGCCGGGGTAGGGTTCTCCTGTCCAGGGGACACTGCTGGCCCAGCCCCACCCAAGCAGGGGAAATCTGCCCTGGGAGCCACTGTCCCTCAGGACGCCCCCTGCAACCAGCCACCTCTCGTCTGGGCCTCACCAAGACCCCAAGACTCAAGAGCTCCTGTCTCACCAGTGGGACCCTCCAGTCCTGCTGGGGGTGTGTCCTGGGTCCTGGAGTCTGGGCCCCTCACTGGGTAGGGTATATGGGTAACAGGCCCAGTGTGGTCCCACTGGACAGGGCCTCAACCAACCATCTCCCACTCCCATGCCTCTTCCTCCAAGAAGCCCAGGTGGCGTGGGTGCTTCGAGTCTCTCTCGAATTCCTGTCTTCTGTCCCCTTTCAAGCCACTGTGTCCTTGTAAGTTCCACCCCATGGTCCTTCCCATCCCTGCTGGTCAGTCCCTGGGATACATGTCCTGTTACTCCAGACACCTATCCGCCTCCAGCGCGGAGGCCAAGGCGAAACCACGGTCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCT
pathogenic
369
Mutation found at chromosome 1 position 1437308, gene VWA1 (von Willebrand factor A domain containing 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7']
TCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGG
TCTGGACGTGTTTTTTTGGTGCCACCGCCAGCCCCTGGGGTTCTCTTGGGCCTGGCTGCTGGGACCCCAGCACCCAGAGTCACGGCAGTGGTGGGCATGGGGAGGGCCTAGCCTGGTACCTCCCTGCTCGGCTCCCGCGGCTGGGGGTCGGAGAGGGGTGGAGAGCGTGGGCCGCACAGCCTCGGCCGGGAGAGGGAGACTGGAGTGTGTGTGTGTGCGTGCCTGCGCGTGCGTGCCTCGGTCGTATCTCGGCTGGTGCTGCGTGTCCCTGCGTGTCGGGGTCCGCTCGTGCGCGCCTCTCCGGGGTCTGTGCGCGTGGCCCTCCGCTCGCGCCGGAGGGCGTGGGCGTGGCCTCGGCGTGGGTGTGGCCGCTCGGGGAGGGGCCTCCCGGGGGCGGGGCCGGCCTGGTCCGCGCGGTGACGCGCCCTGCAGCCCCGAGCGAGCGAGCGAGCGAGCGAGTTGCCGAGCGCGCCCCGTCCCTCGCGCGCGATGCTCCCCTGGACGGCGCTCGGCCTGGCCCTGAGCTTGCGGCTGGCGCTGGCGCGGAGCGGCGCGGAGCGCGGTGAGTGCGGCGGGCGGCCGGGCCGGGGCTGGGGCTTCTGGTGACCGCTCTGCGCCGCTGCCCGCGCAAGGCCGTCGCTGTCCCCTGCTCCGGACGGGCGGGCGGGCTGGGAGGCTGCGGGAGCCGGGCGGGGGCGCGGGCGGAGCGTCCTGCTCACCTGAGGCTGGCGGCCCAGGTGCTCCAGGCGACACCGTCCGTGAGCGCCGGGGCATAGGGGCCGTCCCGGCCCGCATCTCTGCGGGATCGCGGGCCTGGACAGGAAGAGGGAGATGTCTGTCAAGGGGGCACCCCTGCCTCAGTTTCCCTACCCTTGCGAGGGCCCTTAGTGGAGGGATGGTAGGGAAGTTGGAGTCGCCCCACCGCACTGGGGAAAACCGCAAGGCCGGGACTAGAATTGAGGCACGCTGGTGCCCTGGCTTGGTGGGGAGGGGCGGTGTAGGGGGCATCAGCCTCCACCCCGGAGGTGCCCGGAGGAAGGGGGAAGCCTGCGAGGGGCTGTTCCGGCTTTCAGGCTGCTGGGGGTTATATCTTGTTGTGTGAGTCCAGGTGGGCTGGAGGATGGAGGCCAGGGGAGGGGCCACCATCTAGTAAGCGGGGTCTGGGCTCCAGCCAGGCCATCCGGCGTGGTCATTGCTGTGCCTCCGACACCTTCCCCTGCTGCTGTGTGCATGCCCAGGGTGCCTCACCTGCAGGCTGAGCTGCGTGGCTGAACTCCAGCCTCAGGCTGCTCCTCTGAAAGCCATGCCTGGAGGGAACAGCCCCACGGCTCAGGCCTGTCCTGGGGGCCTAGGCCAGGACTCTTGGCTCCACCTGCTTGCAGGGTCTGTGAGGAATGGGAAGGTGTGGGGGCTTGGAGCGGAGAGTCGCCCTCTCACAGATGGGATAACACAAGCCCAGAGAGAGCCCTAGATCCCATGGCCAGTGTGCAGTGAAACCCCCAAAAGTACAGGCCTCTTGCTTAGAGTTCCTCTTTCCCCCAACCTAGGACCTTTGGGAGAAGGCAAGCATCCACTTAAGGAAAGCTGGGGCCCTGGGGGACCCTGCCTTGCTGTGGGGCTGTCTGGGGGGCCCACACCTGAGGCTGAGCATTCCTCCTTTCCCCCAGGTCCACCAGCATCAGCCCCCCGAGGGGACCTGATGTTCCTGCTGGACAGCTCAGCCAGCGTCTCTCACTACGAGTTCTCCCGGGTTCGGGAGTTTGTGGGGCAGCTGGTGGCTCCACTGCCCCTGGGCACCGGGGCCCTGCGTGCCAGTCTGGTGCACGTGGGCAGTCGGCCATACACCGAGTTCCCCTTCGGCCAGCACAGCTCGGGTGAGGCTGCCCAGGATGCGGTGCGTGCTTCTGCCCAGCGCATGGGTGACACCCACACTGGCCTGGCGCTGGTCTATGCCAAGGAACAGCTGTTTGCTGAAGCATCAGGTGCCCGGCCAGGGGTGCCCAAAGTGCTGGTGTGGGTGACAGATGGCGGCTCCAGCGACCCTGTGGGCCCCCCATGCAGGAGCTCAAGGACCTGGGCGTCACCGTGTTCATTGTCAGCACCGGCCGAGGCAACTTCCTGGAGCTGTCAGCCGCTGCCTCAGCCCCTGCCGAGAAGCACCTGCACTTTGTGGACGTGGATGACCTGCACATCATTGTCCAAGAGCTGAGGGGCTCCATTCTCGGTATGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGGN
pathogenic
371
Is chromosome 1, position 1439536, gene VWA1 (von Willebrand factor A domain containing 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7']
TGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGGCCCGGTGAGGCAGGGCCGGGGGCTTCGGGCCCGGAGTCGGGGGCTGGGCCGGCCCCCACGCAGCTCGCCGCCCTCCCCGCCCCAGAGGAGGCCGGGCCAGAGCGCATCGTCATCTCCCACGCCCGGCCGCGCAGCCTCCGCGTGAGTTGGGCCCCAGCGCTGGGCTCAGCCGCGGCGCTCGGCTACCACGTGCAGTTCGGGCCGCTGCGGGGCGGGGAGGCGCAGCGGGTGGAGGTGCCCGCGGGCCGCAACTGCACCACGCTGCAGGGCCTGGCGCCGGGCACCGCCTACCTGGTGACCGTGACCGCCGCCTTCCGCTCGGGCCGCGAGAGCGCGCTGTCCGCCAAGGCCTGCACGCCCGACGGCCCGCGCCCGCGCCCACGCCCCGTGCCCCGCGCCCCGACCCCGGGGACCGCCAGCCGTGAGCCGTAAGCCGGCGTCCCCGCCCAGCCGAGAGGGCCGGCGCCTACCTGAGGGCCCCTGTGTCCCGAACCCGGAGCGGAGGCGCCCAACCCGGCAGACGGGTGCAGGCCCGGCCTTTCCCCACGCGGACTCCGCGCGACCCCGGCCCTCTCCCTGCGGCCGCAGGGCTTCCCCGCCTGGCGCCTGCCCTCCAGGGCTGGGGCCTCGCCTGGCGGGACCCCGCAGCAGCCCCGGCCCCATCCCCGCCCAGAGCCGGGCGTCGTGTGGGTCCGTGGGTGATAATTGAGAGCGTCAGACCCAGGACTGTTCAGGGAGGAGCCCCGGTCAGACTCCCACGTGTGAAGACCGGGCCCCAAGTGGCAAGGGCTGGCCTGGGGCGGGCAGCTTGGGTCCTGGACGTTGATAGGAAGCGGAAGGGGAATCGCGGGAAGCTGGCCCAGGTCAGGTCCGCAAAGGCTTCTGAAGAAGAGGAAGGGCGAGTAGGGGCACCTGGACGCTGATGGTGGCCAGGATGCTCAGCTGGCCAGGAGGGCAGCACCTGCTGGGGACGGTGGCCCTGCCTTCATGCCCAGGACACCAGCTGGGTCCAGCTAGCAGCCACTGGGAATCAGAGGAATGGGGCAGAGCTGGGCATTCAGGACCTTGAGGACACGTGACCCCACCCGCCCACCGCCACTATCAGGCCCCGGGACCGCACTGACAGGAAACCTTCCGTCGTGAGGGAGCACTTCCCAGGGGCCGCAGGGACGACACTCTCCAGGGAGGCCCCAGCAACCACACCATCTTCTTGCTGTGAGAGGTCTCACCCCGGGCTACCTCCTGTCACTACTCACTGCCCTGGGGTCCGTGGGCAAGTTGCCCAGGGTGGGGGTGCCTAGCCAGGTGCAGTCCCCGCCCCGCCTAGTCCTCGGCGTCACGCAATGCTCACCTCGCCTCTTCCCCACTAACATCCCAGACTTTAAAATTCAGTAAATCAGATGTACACCGAGCCTGCAGTCTCGCTAGGATGCTTTACTCCTCCACAAACAGCAGCCGCCGACAGGACAGCTTGTGAACGTCTCCGCCTTTTGGGGTGTCCGGGGAGAGGAGGTGGAGCTGTCCCCTCCCAGTGTCAGGCCTCCTTGGTCCTCATGTGCACCTTTTATTCAGAGAGCTTGGGCCCCCTTCCTTTGGAGCTGGGCCCAGGGCAGGTGGCTGGAATGCAGAGGACAAGGGGGCTGGGGCCTCTGCAGGGCCATTCCCACCGCAGTCTCTGCCACGGCCCGGAGCCCTGGGCCCAGGGCCACGCGGGCTCCCTCTGCTGGCAAAGCCACACCCTGCACCGCATGGGGTCCACTGCCCCTTTCCCCACGTGGACTCTGCGTGACCCCAGGAACTGCAGCATTGAGGTGGTCTCAGTCCCTCCCTCAGGTCTGGTGGGCATTGTGCCAGGGGCCACCTTCGGGACAGCTGGCCTTGGCACCGTCTCCCAAGAACCCAGCTCTGTGCATCCCGTGGCCCCACCAGAAACCCAAGGCCACACCGCCCACCAGCTGGGTGTGGTCACCATTCATGGAGGGCCGGCTGGGGCCAGGCTCACCACGCAGAGTTTGCCCTCCGGTGTGATGATGCATGAGACACAGTAGGCCCCCCTGCCTGTGTGTGCAGGGGGTGTCTGTGGGGGGGCCCTGCTGGCTGGACTTTGGGTTTCTCCTGAGCTCCCCTTAGCCCCCAAGTCAGGCCACGGAGGCCTGAGTAGGACCCATGGGCTGTGTGTGTCACTGCAGGTGGCGTGCTCACAACTGCACTGCTGGTCGGCAGGTGGC
TGCGGGAGGAGGCAGGGCCCAGGGAGCCCTAGCTGGGAGCCGCAGAAGGAGAGGCTGGGTTGAGACTTTGGGAAGATCTCATGTCCCCAGAGCAGCGGCCAGGGCCTCCGGGGCTGTGGTACCCCTAGGGTGCAGGGCTGAGTGATGCAGCTTGTCTATGCACACTCTTCACTGGGCGACCCGTGTACCCTGCTGAGACGGGGGCAGGCTTGAGTAGCCACCTCCAGGTGTAGCTCCCTGCTGATGTGTCCAGCCCAGACCTCGAGGCCCCAGGGAGTGCAGAGCCCGGGTGTAGGCCCAGGAAGAAGCTTCCAAGTCTGGGGACTCTGCAGATGGGCAGCATGTGCTCCTGAGCATGCCCACCATACCTGGAGAGGGGTGAGCCAGAAAGGTCAGGGACTGCCCCCCCAGAGAGCACAGGGCACCTCTCCTGGGTGGGGACAGCCGCCGAGGGCTTTGAACTAGTTCGGACTGCAGGCCCACTGTGAGGGTTTCCTGAGAGGCCGGACCAGGGAAGGCCTGAGGCAGGAGCTGAGCAGCTCCCATTGGCTTTTTTTCTGGACCTCCCTGCCCCAGCCAAGCCCTGAAGGAGCTGGGGCTGGAGATGAGGAACCGGCCACTGGCTCAGCCTGCTGCAGCCACTGAAAAATGCCAACCCTGGGGATCTCACCAAGTCTCCGTCTGTGGGTTAATCATCCACCCAGAGCCGGAAGGGGTTGGACTGTGGGTTGGAGAGGGGTGGACGGCCCTCCCCAAGGTTTCCCCAGGGACGTCTGGCCCCTAGTGGCCCCAGGTCACCCAGTGCAGCTGCGCCTGGAGGGGACCAGGAGGAAAGGCTGCCTTAAGCAGCCAAAGGAAAAGCCTGAGGCTGCAGTGCCGAGGGGCCAGGCAGCAGGGTGGGGGCTCCTGGGAAAGAGGCCGGGTCTGAGGGTGGGGGATGGGAAGAAAGTGGCCCAGGCACCCAGCACTGCAGGAGGAAGATCCTGATAGCTTTAACCCAGCGCAGACATTTATGAGCCTCGCCACAGCAGGGTCACTCAGAGGGCTATGTGGGGCTTGGTGTCACAGGTCCAGGAGTCCCCCTCTGGAGAACCCCACCCCACACTCTCCTGGGGACCCAGGGCAGGCAGCGCCTCCAGAACCCCAGGGCCTGCCCCTGTGGTCTCCCATCTCCTAGCTGCAGCTCAGAGAGCCGGGCTGACCTCAGACCCCGGCCTGGCCACTCAGGCTGGGGCTGGTCCTCTGCTCTCAGGCACCACCGTGGACTCTGCCGTCTTTGAGGACCTTTGTCCTGGTCACTGATCTGGCCACTGCACCTCTCCACAAAGGACTGGGTTTGGGGCTAAGGGAGGCAGGGGCGCTTCTGACAGGGCCTGAGGGGGCTGCACCCTTTCCTCCGTCCTCCCCCAGCCAAGGCACGTTCTGAGAATCCCCAGCATCTGCGGGGCATGGCTCCAGCAGCTCCTTGGCCGCGGGGCCCCGTCTTTCCTAGTGGGGCCTCCAATCTCCAGATCTTCCCCATCAGCCAGGGCCGCCCTCCAGCAGCGGAGGAGGAACTGACCGCTGTTCCCTGACCCCCTGCACCACCCACAGACGCGATGCGGCCGCAGCAGCTCCATGCCACGGAGATCACGTCCAGCGGCTTCCGCCTGGCCTGGCCACCCCTGCTGACCGCAGACTCGGGCTACTATGTGCTGGAGCTGGTGCCCAGCGCCCAGCCGGGGGCTGCAAGACGCCAGCAGCTGCCAGGGAACGCCACGGACTGGATCTGGGCCGGCCTCGACCCGGACACGGACTACGACGTGGCGCTAGTGCCTGAGTCCAACGTGCGCCTCCTGAGGCCCCAGATCCTGCGGGTGCGCACGCGGCCCGGTGAGGCAGGGCCGGGGGCTTCGGGCCCGGAGTCGGGGGCTGGGCCGGCCCCCACGCAGCTCGCCGCCCTCCCCGCCCCAGAGGAGGCCGGGCCAGAGCGCATCGTCATCTCCCACGCCCGGCCGCGCAGCCTCCGCGTGAGTTGGGCCCCAGCGCTGGGCTCAGCCGCGGCGCTCGGCTAGCTACCACGTGCAGTTCGGGCCGCTGCGGGGCGGGGAGGCGCAGCGGGTGGAGGTGCCCGCGGGCCGCAACTGCACCACGCTGCAGGGCCTGGCGCCGGGCACCGCCTACCTGGTGACCGTGACCGCCGCCTTCCGCTCGGGCCGCGAGAGCGCGCTGTCCGCCAAGGCCTGCACGCCCGACGGCCCGCGCCCGCGCCCACGCCCCGTGCCCCGCGCCCCGACCCCGGGGACCGCCAGCCGTGAGCCGTAAGCCGGCGTCCCCGCCCAGCCGAGAGGGCCGGCGCCTACCTGAGGGCCCCTGTGTCCCGAACCCGGAGCGGAGGCGCCCAACCCGGCAGACGGGTGCAGGCCCGGCCTTTCCCCACGCGGACTCCGCGCGACCCCGGCCCTCTCCCTGCGGCCGCAGGGCTTCCCCGCCTGGCGCCTGCCCTCCAGGGCTGGGGCCTCGCCTGGCGGGACCCCGCAGCAGCCCCGGCCCCATCCCCGCCCAGAGCCGGGCGTCGTGTGGGTCCGTGGGTGATAATTGAGAGCGTCAGACCCAGGACTGTTCAGGGAGGAGCCCCGGTCAGACTCCCACGTGTGAAGACCGGGCCCCAAGTGGCAAGGGCTGGCCTGGGGCGGGCAGCTTGGGTCCTGGACGTTGATAGGAAGCGGAAGGGGAATCGCGGGAAGCTGGCCCAGGTCAGGTCCGCAAAGGCTTCTGAAGAAGAGGAAGGGCGAGTAGGGGCACCTGGACGCTGATGGTGGCCAGGATGCTCAGCTGGCCAGGAGGGCAGCACCTGCTGGGGACGGTGGCCCTGCCTTCATGCCCAGGACACCAGCTGGGTCCAGCTAGCAGCCACTGGGAATCAGAGGAATGGGGCAGAGCTGGGCATTCAGGACCTTGAGGACACGTGACCCCACCCGCCCACCGCCACTATCAGGCCCCGGGACCGCACTGACAGGAAACCTTCCGTCGTGAGGGAGCACTTCCCAGGGGCCGCAGGGACGACACTCTCCAGGGAGGCCCCAGCAACCACACCATCTTCTTGCTGTGAGAGGTCTCACCCCGGGCTACCTCCTGTCACTACTCACTGCCCTGGGGTCCGTGGGCAAGTTGCCCAGGGTGGGGGTGCCTAGCCAGGTGCAGTCCCCGCCCCGCCTAGTCCTCGGCGTCACGCAATGCTCACCTCGCCTCTTCCCCACTAACATCCCAGACTTTAAAATTCAGTAAATCAGATGTACACCGAGCCTGCAGTCTCGCTAGGATGCTTTACTCCTCCACAAACAGCAGCCGCCGACAGGACAGCTTGTGAACGTCTCCGCCTTTTGGGGTGTCCGGGGAGAGGAGGTGGAGCTGTCCCCTCCCAGTGTCAGGCCTCCTTGGTCCTCATGTGCACCTTTTATTCAGAGAGCTTGGGCCCCCTTCCTTTGGAGCTGGGCCCAGGGCAGGTGGCTGGAATGCAGAGGACAAGGGGGCTGGGGCCTCTGCAGGGCCATTCCCACCGCAGTCTCTGCCACGGCCCGGAGCCCTGGGCCCAGGGCCACGCGGGCTCCCTCTGCTGGCAAAGCCACACCCTGCACCGCATGGGGTCCACTGCCCCTTTCCCCACGTGGACTCTGCGTGACCCCAGGAACTGCAGCATTGAGGTGGTCTCAGTCCCTCCCTCAGGTCTGGTGGGCATTGTGCCAGGGGCCACCTTCGGGACAGCTGGCCTTGGCACCGTCTCCCAAGAACCCAGCTCTGTGCATCCCGTGGCCCCACCAGAAACCCAAGGCCACACCGCCCACCAGCTGGGTGTGGTCACCATTCATGGAGGGCCGGCTGGGGCCAGGCTCACCACGCAGAGTTTGCCCTCCGGTGTGATGATGCATGAGACACAGTAGGCCCCCCTGCCTGTGTGTGCAGGGGGTGTCTGTGGGGGGGCCCTGCTGGCTGGACTTTGGGTTTCTCCTGAGCTCCCCTTAGCCCCCAAGTCAGGCCACGGAGGCCTGAGTAGGACCCATGGGCTGTGTGTGTCACTGCAGGTGGCGTGCTCACAACTGCACTGCTGGTCGGCAGG
pathogenic
377
The chromosome 1, position 2406525 genetic variant in gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
AAAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGC
AAAGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCNNNNNNNNNNNNN
pathogenic
758
Classify the chromosome 1 variant at position 2406527 affecting gene PEX10 (peroxisomal biogenesis factor 10) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7']
AGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAG
AGGACTGGGTGCTGATGGATGGAGCCACGGCGGCATCTGCCCACCCGGCCGCAGCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCA
pathogenic
759
Variant at chromosome position 2406580, chromosome 1, gene PEX10 (peroxisomal biogenesis factor 10): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B', 'Zellweger_spectrum_disorders']
GCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCC
GCCCCCAGTGCCTCTCCTGGTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCNN
pathogenic
764
Considering the variant on chromosome 1, location 2406599, involving gene PEX10 (peroxisomal biogenesis factor 10), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
GTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACG
GTGGTCCTCCCAGTCTAGAGGGTCACGGCCCCCCCGCCCTCCTCCGTCTCTGGCAAGCTGACCTTGACTAACCCAGGAATACAGGGTCATCCTCATTCCTAAGTAAGTCAAACAGCAAGACATGGTTTGCGCGGGTCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGNN
pathogenic
765
Is chromosome 1, position 2406734, gene PEX10 (peroxisomal biogenesis factor 10) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
TCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCG
TCTTTGCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGN
pathogenic
771
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome 1, position 2406739—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
GCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCG
GCCGGAAGCCGGTCCTGCTGGCCAGGTGTTTTACGTCAGCAGGGAAATGTGGCACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGNN
pathogenic
772
Regarding the variant found on chromosome 1 at position 2406791 in gene PEX10 (peroxisomal biogenesis factor 10): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['PEX10-related_disorder', 'Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B', 'Zellweger_spectrum_disorders']
CACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTC
CACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACT
pathogenic
775
Is the genetic variant on chromosome 1, position 2406792, gene PEX10 (peroxisomal biogenesis factor 10), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
ACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCC
ACACGCCCTCGAGGCATTTTAACACTGCGCTTCAGGAAATCTCAAGTTCCATCTTGTGTTAGTAACGTACCCACATTTTGCTGGAGTTAGTTTATTAAAGATGCCTACGGTGAACTCTCTGGCGCAGGTTAAATGCAGTTTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCNNNNNNNNNNNN
pathogenic
776
A genetic variant at chromosome 1, position 2406931, affecting gene PEX10 (peroxisomal biogenesis factor 10)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Peroxisome_biogenesis_disorder,_complementation_group_7', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)', 'Peroxisome_biogenesis_disorder_6B']
TTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTG
TTTGAAAACCTGGAAACATCAAATGGAGGCGGGAAATAGGCTGGGGCCGAGCTGAGGGGCTGAACACAGCAGTGACCGTGGGTCAGCAGGTCGCCTGCCCAGCAGGCCCCCCAGGAGAGGGCTCGGGCGCCCCTGGCAGCCCCCATACCCCCAGGACCTGGCTCGTGAGTGCGTCTGGGTCAGGAAGAGACCTCTCTGTGCGTCTCAGGCTGAGATGCAGATTTCTGTTTTCTAAAACTGGAAGCGACCTTGACGTGTATTGAAGGTGTGTGTGCCAAATGCTTCCGACGGAGGTGCTGGCCTTGGTTGGTTTCTCTCTGCCCCGTGTGGTCATCAAGTCCTGGGGGATGTGCTCTGCCCAGCCGCCCTCGGGGAGAGCAGCGCCGCCTCCCATGGGGCCGTGGGGCTGCTGTTCTCACTGCACTGGCTGAAGCAACCCGCCAGCCTCCGTGCCCCACCCCACCCAGCACGCACTCATTCAGTCCATTGCCTTAACACAAGCCTGATGGGGCTGTTTTCTCACAATATAAACGAATAAAGTGTCTTCTGGCCTACTTCTGAATTACTTCTCAACTGTATGGTTTGGGGAAGGGAGGGAAACCTAAAATCCCGTCCAAATAAGTGAAATTCCTGAAGAAGTGGCTGAGTCCTACCAGGTTGGGGTTAGGGAAATGTTCTGGGTTCAGGCGCCCCTCCCAGGGCTGAGAAAGCGCAGCCAGGGACAGCTTTCTGTTCTCTCCCAGGGTGGCTAGGTTAGTATCTTACATGACAAAAAACTGAGAGTGTTCTAACTTCTGTGCAAGCAAGGTTAATCCTGAGACTAAATCTTGGCGTTCAGACTCCCGTAGAGGTCATCTGTGTCCAGGCCCACCCGGGCGCCGGCTCAGCGGTAGTGCCGAAGGTAGATGAGCTTCTGGGGAGGGAACTTCTCCCGGCAGAGGGGACACTCCGCCTGCGGAGAGGAGAAAGGGGGTCACAGCAGCTGGGGCCACTGGGCCATGCCCATCCCCATCGGCATTTCTTTTCCTGTCCACATTCTCTGCACATGACACACAACATAAATGTTGTATTTCCTTCAACTAATGACCAAGAAAGCCAGCCTTTTTTCAGAAGGCCGAGTCCCAGTGGGGGCTGGGGCGGGGCTGGGGGCGTAGGGCTCAGGGTGTGGGGCTCGGCCGGGAGGTTCCCTCCTGCTCCCGCAGCTGACACAGCCCACGAAGCCCAGCTCCTGGGAAAGCGTGCGCTCTCACCCTGCCGGCATCTTCGGTGGGTGTGAGTCAGTGTGCTAGGGTTTTCAAGTGTGGTGAGGACCCCGGGAGGAAGGGTGTGCTGGGATGCGTGGTGCAAGCGTGGGGCCTTTCAGGGCTGGCCACTACCCCAACCTGCATTCGGCAAAGCCTCAATACACGTGAATTTGGAACTTTAACCCCCTCAACGAACCCACATCTGACCTACCTGGGAGCCTTTAAAAAGATGCCCACCTCTGTACCCTCAAAACTGGAGGGTGCTCAGAGCCAGACTCCCCACTTCTGCTGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGNN
pathogenic
781
Gene PEX10 (peroxisomal biogenesis factor 10) variant at chromosome 1, position 2408464—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Peroxisome_biogenesis_disorder', 'Peroxisome_biogenesis_disorder_6A_(Zellweger)']
TGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCGTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGA
TGCAGCCAGGTGCATCTTGCCGGCACAGCCGCTGACCACCCCAGGACGGCAGCAGGCTCCCACCTCACCTTGCTGCTGCACCACGCGGTGATGCACTCCCAGCAGAACAGGTGGCCGCAGGGCGTGGCTGTTGGGTGCCTGCGCTCCTCCAGGCACAGGGTGCACAGGGGGTTTCTGGAAACGGCTCTCTCCTCCAAGGAGGCCCTGGGGAAGGTGGGGCAGAGCGTCAAGGTGGGTGCACCTTACAGGTCCTTGTGAAGTGCCCAGGACACCCCCAGCCCCCATGTGTGGCCCCCGCACGCACCTGCGGTGAGACAGGCCGCGGTGCAGCCTCCACTCCTTCCTGGCTCGCTGCCGCTGCCTGAAACCGTACAGCTGCAGCCCCATGGACAGCACCAGGTGCAGCAGTGAGATGACCCCCAGCAGCCTGTAGCTAACACGGGCCCTCAGGTCCTCTCCGGGCAGGCTGCGGACACGGAGCTGTAAGGCAGATGGCGCCACACTCATCAGGACCCTGAGGGGATCTGGCCTCAGCGCCTGCTGGGAGGGTCACACGTTCAGTTGGCACAGAGCACGTTAGAACCAGGCCTCTCACTGGCATGGGGAGTGCCCGGCAGAAACGATCAAGCCAGGGGGCAGGTTCAGGGAGTCTGAGGTGCCTGCTTCGTAGCCTAGCATGACGGAGAGGCCTGAGCTCCAGACCAGCCTTGGCATTACCAGTGCAGAAAGAGTCTTAGCTATGAGGCTGGCAGAGCAGGTGAGGATGTGGGGATGTCCAGGGACCACCTCTCAGAAAAGGAGGCGGGGAGCGGAAATGTGGGGCTGCAGACGCTGCCCACCAGCTACCCTGCTACAGGGACCGAAGCCCCAGTGTAACAAGGCACGTGGCCCCAGGGACACTGCTGCCACCCTCCTGCTGGTGACACAGGTAGCTTCTGACCGTGCCACTGAAGGACAGCTGGCTGCCCTCGGCTTCCCGTGTCACTTTCCACTGGCTGGGAAATGGAGACAGCCAGACAGCCTCGGCCCAGGGCCGGGAACCACATACAGAGGTGGCAGGTCACACCGCCAGCATGGGCCCTGGGTGTCCAGCCACTTCCTGGCTGTCCTAGGAGAGAGGGAGCCTCCCATCTGGTTTGAGCCCCACTTCCATGCCCCTGTCACAGCAGCTCATCAAATCCCTCACCAACATGGACGGGGCAAGAAACCACATCAAATACGCAAGTGAGGCTGGGTACGCTGAGGACGAAGACCTGACCATTGGCTCTGCGACGAGGTCACGGTGGCCTCCTGTTTAGGGTGTGTGTGGAGGCGGGGTTGCCTGGCAAGTAGGGGCTGAGGGGACCAGTGCAGCTCTAGGGACAAAAGGAAGGGGGTTCCTCAGAGGGCTGTTCTGGAAGGAGCTCATGCAGTAGTGGCTCTGGTGGGCCAGGGACTAACGCTGTGGCAGGTGGACATGGTGGTGGGACCACGGGGGAGGCTTCGTTGCTGAATCTGGAAGCAGGGGCATCAGCTGGGGGTCAGGATAGGCAGAGGTGCCAACGGCTGTGGAGGGGAGAAGGTGGGAACGGCCGTCTGATGGGGCAGACTGCTGGGCCAGGCAGGGGCGAGGGGTGAGGGGCTGGGGCCGGGGCTGCAGTCCATGCTCCCACACTGTCTGGGAGAAGCTGTTTGTTCCCCACAGCAGTGACATAGGCAGTCACGGGCCCAGGTTCAGGGATCTGTGGTGAGGCGTGACCCGGGGCCCCCCGGTCAGTAAAGAGCTAAGCGCAGGGCCCGGTGTCCATGAGGGGCTGCAGCAGGAGTTCATTCTACACTTAGGGTCTGGACTTCCTTGGATCTTTCAGCCAAGTGTAATTAAACAAAATCTGCTTTTTTTCCAAGCAGAGGATTTGGGTTCCTGCCTTGACACAGATGCTGGATGTAGAACCCTGTTGGCTGAGAGGCCTGGAGGGCCAGCTCTGTGCATGCACCCAAGTCCAGTGGGGGTGACAAGGACGGCCTAAGCAGCTGTGCCCTCAGCGCCTGCTACTTACGTACGTGATCCCCTGAGCCTCTTGGCCAGGTGGTAGAAGACACCGTGGATGTAAAACCAGGCAACATGTAGCCGCTGGAGGCAGGCGAGGCCCTGTCTGAGGACGAAGACCGCCCGCAGCAGCGCCCTCCTCTGCTGCTCAGTCAGGGTGGCCGTGTGGTGACGCATCCAGCGCCGCGCCCCTGAGCAGCCACGCCCACCTGGCCCCAGGCTCCCCTGCAAGGGTCGCCCACTGTCGGGGTCAGCCTGCAGCTCCTGCTCCAGGGGGAGCAGGGCCTTGTCCAGCAGGTAGGGCAGGACGGCATGCAGTGTCACCAGCACGCCACGGCGCAGCGAGGAGGGCACATGTATCCGCGATGGGTCCACCTGGATGATGCTGACGTACTCCTCCCCCAGGGTCTGGTAGCCTGCGAGGAAGAGGATGGGTATGTGGACCCTGAGACTGCTGCCGCGGGGACAGGCTCCCGGCGCCCCTGCCAGCCGACCCTCTGCTGGCTCCTGTCAACAGCCCCATCTTGTCGCCCTTGAGCCCACTGTCACCCCGTGCTGGCTGAGGCCAACATGACCTTCTGTCGCTAAGCCCACTGTGAGCTCAGGCAGCACATGACAGGCCCGGCCAATGGCTGCCCTTGGCTCCCAGGGCCTTGGCTGGCCAGTGTCCCTCCCTCTCTTGGCTTCTCCCCAAGAGTCTCTGCTCTTTCCCCTTTCTCCCTAGCTGTCCCCGCCACCTCCCCCAGCCCAAGCACTCGGATCCAGTCCCATGGCTCTCCACCAACCACACAGCTGGCACCACCCGATTTATGCCCAGCCTGGACCTTACTTGTGAGTGCCAGCCATGCAGGTCCGCCACCTACCTGACATCGCCATGTATGCTCAGATGAGCACCCCAATTCCACCCCTGCCGAGACAGCTTTCAGCGCCCCCACCCAGAAAAGCCTGCTCCCCGTTTCCATCTCTGTGGATGGCAACGCCAGGCCTCCGGTTCCTGAGGTCAAGCCCAAGGGGCACCCTGCATGCACCTTCCCTGTGTGTTCCACCCCCTCGCTGCCGCCCCTGCTCTGTACCACCACCATCCTGTGGGGGACTGTCACAGCCTCTGTAGTCTCCCTGAGCCCAACTTTGTCCCCTGAGGTCTGGTCTTAGCTAGTGGTCGGCCTCTCCCCTGCCCACGTCCCTGGAATGCCCCAAGCCTCGCACAGGGAAAGCTATGGGCTTACAAAACTCACGAGCCCCCCGGGGTCATTCTCCCAAACCGCCAAGGACGTGTTCTTCTCAGGGCCTTTCCCGGCTGCTTGCTCTGCCGGTCTGGAAAATGCTCTTCCCTAAGACGTGGTCTTTATCTCTGAGAGCCCCTCACTTCCCAAGATGCTCTGTGACGCAGCCACATCTGTCTCCCGCCCACCGAGCACACTCTCCATGGCGGCAGGATGCCCGGGGCGAGCCCCTCGTAGGGAACCAGGCTGGCACTCGGTGGTCCTTGCTACATGCTGAGCTGGGGTTGGGAGCCTGAGAGCTTCTGTCAACAACTCCCTCTAAAGGGTGGTGACCAGCCTGGGCCACAGACCCACCACTGCTCCACCAGGGCACTGTCACACGGGCACTGCACCCTATGACATGGCTCAGCACTGTGACTCACTGGTGCCACCAGGGCTGGCCACTGAGAAATGGGTCTCAGTGGCACCCGGGGTAAAGTCTTAAACAAAGAACCCCAGGGACACACAAAGGCTGGAAAAGTCGGCTCCCTGCTGGGAGCAGATGCCTCGCCTCCCTCGGAGCAGTACCTCCTGCACTTCCCTGAAGCAACCTCACCCGGGCCAGCTCCAGGAGCTTCTCACACTGCCTGGCAGCCCCCTGGCCACCGTCCCCAGACTTGGTGTGTGTGGCTGCCCTCAGTCCTGAGGTCCCGTGGGAGCTTCTACCTGCAAGTGTGGTGAGGCCAAAGTAGGCCACATCTGAGAGCAGCTCAACCTCCTTCCTCCACTCCAGCCACTTCCTCGCACCTGAGAGGAGAAACAGTATTAGTCCGGGGGAGCTGGTGGGCATCCTCTGAGGATGAGGGAN
pathogenic
785
End of preview. Expand in Data Studio

🧬 BioReason
Incentivizing Multimodal Biological Reasoning within a DNA-LLM Model

arXiv GitHub Website HuggingFace Dataset


Variant Effect Coding Non-SNVs Dataset

36,088 core non-SNV entries from ClinVar 2024-02-28 release, filtered for coding variants with ≥2-star review status, using stratified train/test splits for balanced disease representation in pathogenic/benign classification.

Usage

from datasets import load_dataset

dataset = load_dataset("wanglab/variant_effect_non_snv")
example = dataset["train"][0]
print(example)

Citation

@misc{fallahpour2025bioreasonincentivizingmultimodalbiological,
      title={BioReason: Incentivizing Multimodal Biological Reasoning within a DNA-LLM Model}, 
      author={Adibvafa Fallahpour and Andrew Magnuson and Purav Gupta and Shihao Ma and Jack Naimer and Arnav Shah and Haonan Duan and Omar Ibrahim and Hani Goodarzi and Chris J. Maddison and Bo Wang},
      year={2025},
      eprint={2505.23579},
      archivePrefix={arXiv},
      primaryClass={cs.LG},
      url={https://arxiv.org/abs/2505.23579}, 
}
Downloads last month
90

Collection including wanglab/variant_effect_non_snv