BioReason
Collection
BioReason: Incentivizing Multimodal Biological Reasoning within a DNA-LLM Model
•
3 items
•
Updated
•
17
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']
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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
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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},
}