BioReason
Collection
BioReason: Incentivizing Multimodal Biological Reasoning within a DNA-LLM Model
•
3 items
•
Updated
•
7
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 |
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.
from datasets import load_dataset
dataset = load_dataset("wanglab/variant_effect_non_snv")
example = dataset["train"][0]
print(example)
@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},
}