ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
|---|---|---|---|---|
Task1_train_26600 | This alteration in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Glutaric aciduria, type 1 | CAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCT... | CAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACCACAGATGAGATCCT... |
Task1_train_26601 | Consider a variant on Chromosome 19 in gene GCDH (glutaryl-CoA dehydrogenase). Determine its clinical classification and disease relevance. | Pathogenic; Glutaric aciduria, type 1 | CCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGA... | CCAGCACTTTGGGAGGGTGAAGTGAGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGA... |
Task1_train_26602 | A variant found in Chromosome 19 affects GCDH (glutaryl-CoA dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Glutaric aciduria, type 1 | AGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTG... | AGAAGATCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTG... |
Task1_train_26603 | Chromosome 19 houses a mutation in gene GCDH (glutaryl-CoA dehydrogenase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glutaric aciduria, type 1 | TCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGA... | TCCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGA... |
Task1_train_26604 | The following genetic variant occurs in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAA... | CCCTTGAGCCCAAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAA... |
Task1_train_26605 | A variant on Chromosome 19 in gene GCDH (glutaryl-CoA dehydrogenase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Glutaric aciduria, type 1 | AAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAG... | AAGAGTTCGAAACCAGCCTGGGCAACGTAAGGAGACCCCATGTCTATTAGAAAAACAAAAAAAGGAAAGAGCCTATGTGACCTGCGCTAAGTGGACGTTGGCCCTCTTCCGTGGTGTCTCGGAGGTGTTCAGCTGCTTCAAGATGAAGCTGAACATCTCCTTCCCAGCCACTGGCTGCCAGAAACTCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAG... |
Task1_train_26606 | Given this context: Chromosome 19, gene GCDH (glutaryl-CoA dehydrogenase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Glutaric aciduria, type 1 | TCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTAT... | TCATTGAAGTGGACGATGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTAT... |
Task1_train_26607 | Mutation context: Chromosome 19, Gene GCDH (glutaryl-CoA dehydrogenase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Glutaric aciduria, type 1 | TGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAG... | TGAACGCAAACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAG... |
Task1_train_26608 | Chromosome 19 houses a mutation in gene GCDH (glutaryl-CoA dehydrogenase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glutaric aciduria, type 1 | AACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGAT... | AACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGAT... |
Task1_train_26609 | The following genetic variant occurs in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | AACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGAT... | AACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGAT... |
Task1_train_26610 | Chromosome 19 houses a mutation in gene GCDH (glutaryl-CoA dehydrogenase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glutaric aciduria, type 1 | ACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATG... | ACTTTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATG... |
Task1_train_26611 | Mutation context: Chromosome 19, Gene GCDH (glutaryl-CoA dehydrogenase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not specified | TTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCT... | TTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCT... |
Task1_train_26612 | Here is a mutation in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Glutaric aciduria, type 1 | TTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCT... | TTGTACTTTTTATGAGAAGCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCT... |
Task1_train_26613 | The gene GCDH (glutaryl-CoA dehydrogenase), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glutaric aciduria, type 1 | GCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGT... | GCGTATGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGT... |
Task1_train_26614 | A change on Chromosome 19 affects gene GCDH (glutaryl-CoA dehydrogenase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Glutaric aciduria, type 1 | TGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGC... | TGGCCACAGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGC... |
Task1_train_26615 | Here is a mutation in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Glutaric aciduria, type 1 | AGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGA... | AGAAGTTGCTGTTGACGCTCTGGGTGAAGAATGGAAGGGTTACGTGGTCGGAATCAGTGGTGGGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGA... |
Task1_train_26616 | A sequence alteration has been identified in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Glutaric aciduria, type 1 | GGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCC... | GGAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCC... |
Task1_train_26617 | This gene mutation involves GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Glutaric aciduria, type 1 | GAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCC... | GAACAATAAACAAGGTTTCCCCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCC... |
Task1_train_26618 | Here is a variant affecting GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Glutaric aciduria, type 1 | CCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAA... | CCTTGAAACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAA... |
Task1_train_26619 | An alteration has been detected in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Glutaric aciduria, type 1 | ACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGG... | ACAGGGTGTCTTGACCCATGGCCGTGTCCACTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGG... |
Task1_train_26620 | Chromosome 19 houses a mutation in gene GCDH (glutaryl-CoA dehydrogenase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glutaric aciduria, type 1 | CTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTC... | CTTGCTACTGAGTAAGGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTC... |
Task1_train_26621 | A variant affecting Chromosome 19, within the gene GCDH (glutaryl-CoA dehydrogenase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not specified | GGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTG... | GGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTG... |
Task1_train_26622 | A variant on Chromosome 19 in gene GCDH (glutaryl-CoA dehydrogenase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Glutaric aciduria, type 1 | GGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTG... | GGGGCATTCCTATTACAGACCAAGGAGAACTGGAGAAAGAAAGAGAAGATCAGTTCATGGTTGCATCGTGGATGCCAATCTGAGTGTTCTCAACTTGGTTATTGTAAAAAAAAGGAGAGAAGGGTATTCCTGGACTGACTGAGACTATGATGCCTCGTCACCTGGGGCCCAGTACAGCTAGCAGAATCCGTAAACTTTTCAGTCTCTCTAAAGAAAATGATGTCTGCCAGTATGTTGTAAAAAAGCCCTTAAACAAAGAAGGTAAGAAACCTAGGACCAAAGCACCCAAGATTCAGCGCCTTGTCACTCCACATGTCCTG... |
Task1_train_26623 | This genomic variant is located on Chromosome 19, within the GCDH (glutaryl-CoA dehydrogenase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not specified | TCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACT... | TCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACT... |
Task1_train_26624 | A sequence alteration has been identified in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Glutaric aciduria, type 1 | TCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACT... | TCCAGTCAGAAATAAGATTTTTTGAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACT... |
Task1_train_26625 | This variant affects gene GCDH (glutaryl-CoA dehydrogenase) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Glutaric aciduria, type 1 | GAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAA... | GAGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAA... |
Task1_train_26626 | This alteration in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Glutaric aciduria, type 1 | AGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAG... | AGTAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAG... |
Task1_train_26627 | The gene GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Glutaric aciduria, type 1 | TAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCA... | TAACAAATAAGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCA... |
Task1_train_26628 | A variant found in Chromosome 19 affects GCDH (glutaryl-CoA dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Glutaric aciduria, type 1 | AGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGAT... | AGATCAGATTCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGAT... |
Task1_train_26629 | Given a variant located on Chromosome 19 and affecting GCDH (glutaryl-CoA dehydrogenase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not specified | TCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAG... | TCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAG... |
Task1_train_26630 | A mutation on Chromosome 19 affecting GCDH (glutaryl-CoA dehydrogenase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Glutaric aciduria, type 1 | TCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAG... | TCGCAAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAG... |
Task1_train_26631 | Given this context: Chromosome 19, gene GCDH (glutaryl-CoA dehydrogenase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Glutaric aciduria, type 1 | AAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTAT... | AAAAAAAAAAAAAAACCCACAAGGCCCTGTGTGACCAGGCCTCTGCTGACCTTTCCACCTCATCTCTGGCCACTCATGTGATCCTCCCAGCCAGACTTAGCTACTTGAAATTCTCCAGAAGTACCACCAGTTCTTTACACATCTGTTCCCTCTCCCAGCACTGCTCTTCCCCACAGCCTCCTCCTGCTTAACTCCTCACACCCTTCCAGTTTGGCCAACTCCTTCCTGATTCCCTGGGTCCCCCTCCCCATCTTGGCATTGTGATCATGACTTTGGGGTAACCTGTCTCTTGAAAGCAGGGCCAGATCTAACTTAGTTAT... |
Task1_train_26632 | The following genetic variant occurs in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Glutaric aciduria, type 1 | GTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGAT... | GTCCCCCAGGCTGAAGTGCAGTGGTACAATCTTGGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGAT... |
Task1_train_26633 | The variant affects gene GCDH (glutaryl-CoA dehydrogenase), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glutaric aciduria, type 1 | GGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTG... | GGCTCACTGCAACCTGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTG... |
Task1_train_26634 | Consider this mutation in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Glutaric aciduria, type 1 | TGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGTA... | TGCGGTTCCCCAGTTCAAGCAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGTA... |
Task1_train_26635 | A sequence alteration has been identified in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Glutaric aciduria, type 1 | CAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGTAGTGCAGTGGCATGATCTTG... | CAATTCCTGTGCCTCGGCCTCCCAATTAGCTGGGATTGCAGGTGCTTGCTACCCGTGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCAGACCTCAAGTGATCCATCTGCCTTGGCCTCCCAAAGTGCTGAGATTACATGTGTGAGCCACCTCGACTGGCCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGTCAGGCTGGATTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGTAGTGCAGTGGCATGATCTTG... |
Task1_train_26636 | This mutation occurs in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Glutaric aciduria, type 1 | GCAGTGGCATGATCTTGGCTCACTGCAACCTCTCCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTG... | GCAGTGGCATGATCTTGGCTCACTGCAACCTCTCCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTG... |
Task1_train_26637 | This genomic variant is located on Chromosome 19, within the GCDH (glutaryl-CoA dehydrogenase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glutaric aciduria, type 1 | GATCTTGGCTCACTGCAACCTCTCCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCA... | GATCTTGGCTCACTGCAACCTCTCCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCA... |
Task1_train_26638 | A variant was discovered in gene GCDH (glutaryl-CoA dehydrogenase), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Glutaric aciduria, type 1 | ACTGCAACCTCTCCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTC... | ACTGCAACCTCTCCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTC... |
Task1_train_26639 | Given this context: Chromosome 19, gene GCDH (glutaryl-CoA dehydrogenase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | TCTCCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGC... | TCTCCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGC... |
Task1_train_26640 | A mutation found in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Glutaric aciduria, type 1 | TCTCCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGC... | TCTCCTGCCCGGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGC... |
Task1_train_26641 | Gene GCDH (glutaryl-CoA dehydrogenase), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Glutaric aciduria, type 1 | GGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCA... | GGGTTCAAGCGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCA... |
Task1_train_26642 | This variant affects gene GCDH (glutaryl-CoA dehydrogenase) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Glutaric aciduria, type 1 | AGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACC... | AGTCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACC... |
Task1_train_26643 | The gene GCDH (glutaryl-CoA dehydrogenase) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Glutaric aciduria, type 1 | TAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATG... | TAGCTGGGATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATG... |
Task1_train_26644 | Chromosome 19 houses a mutation in gene GCDH (glutaryl-CoA dehydrogenase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Glutaric aciduria, type 1 | GATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCA... | GATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCA... |
Task1_train_26645 | Consider this mutation in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Glutaric aciduria, type 1 | ATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAG... | ATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAG... |
Task1_train_26646 | The gene GCDH (glutaryl-CoA dehydrogenase) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not specified | ATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAG... | ATTACAGGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAG... |
Task1_train_26647 | With a mutation on Chromosome 19 in gene GCDH (glutaryl-CoA dehydrogenase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Glutaric aciduria, type 1 | GGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCA... | GGCACCCACCACCACATCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCA... |
Task1_train_26648 | Given this variant in gene GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | TCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAAC... | TCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAAC... |
Task1_train_26649 | Here is a genetic alteration in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Glutaric aciduria, type 1 | TCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAAC... | TCTGGCTATTTTTTTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAAC... |
Task1_train_26650 | This alteration in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Glutaric aciduria, type 1 | TTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCC... | TTTTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCC... |
Task1_train_26651 | This gene mutation involves GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Glutaric aciduria, type 1 | TTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCTC... | TTTTTTTTTTTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCTC... |
Task1_train_26652 | A genomic change on Chromosome 19 affects GCDH (glutaryl-CoA dehydrogenase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Glutaric aciduria, type 1 | AGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCTCAATGGGACCAAGACC... | AGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCTCAATGGGACCAAGACC... |
Task1_train_26653 | The variant affects gene GCDH (glutaryl-CoA dehydrogenase), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glutaric aciduria, type 1 | GGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCTCAATGGGACCAAGACCTGGTAAGGGT... | GGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCTCAATGGGACCAAGACCTGGTAAGGGT... |
Task1_train_26654 | A variant found in Chromosome 19 affects GCDH (glutaryl-CoA dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; GCDH-related disorder | GTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCTCAATGGGACCAAGACCTGGTAAGGGTTC... | GTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCTCAATGGGACCAAGACCTGGTAAGGGTTC... |
Task1_train_26655 | The following genetic variant occurs in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Glutaric aciduria, type 1 | GTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCTCAATGGGACCAAGACCTGGTAAGGGTTC... | GTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAATTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATGACAGGCGTGAGCCACTGCACCCCGCCACGAGGATAATTTTTGAGTAAGGGGATGTATCAGGGACCAGGCAGCCTTGTGACTTTGTCTTGTGCCTGCAGCCAAGGGGGAGCTCCTGGGCTGCTTCGGGCTCACAGAGCCCAACAGCGGAAGTGACCCCAGCAGCATGGAGACCAGAGCCCACTACAACTCATCCAACAAGAGCTACACCCTCAATGGGACCAAGACCTGGTAAGGGTTC... |
Task1_train_26656 | Given this context: Chromosome 19, gene GCDH, LOC126862860, SYCE2 (glutaryl-CoA dehydrogenase| BRD4-independent group 4 enhancer GRCh37_chr19:13010146-13011345| synaptonemal complex central element protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Glutaric aciduria, type 1 | ACAAGTAGGGGCTGTGTGGTGGGGGCGGGGGGATGGCAGCGGTGGCTGGAGGACCTTGTGTCCTTCCTGGAGAGAAAGGTCCTTCCTGCCTGGTGGCCCTGGGGACCTGAACCTTCTGCTGTCCCTCTTGTCCTTGATGGGCTGGGCTGAGGACAGCCCCACTGGTCCCTCATTGGGAGCTTGGCTGCATCAGGGAATCCCCACCCCGGGCTAGGTTTGCTTGGAGCATCGGGATGCCAGGATCCCCAGTCCTTGTTACCCTCATGTGCCACTCCCAGGGCTGCCCCCGAGATGGTTTCTCTGCTGAAGAGGAATAACTG... | ACAAGTAGGGGCTGTGTGGTGGGGGCGGGGGGATGGCAGCGGTGGCTGGAGGACCTTGTGTCCTTCCTGGAGAGAAAGGTCCTTCCTGCCTGGTGGCCCTGGGGACCTGAACCTTCTGCTGTCCCTCTTGTCCTTGATGGGCTGGGCTGAGGACAGCCCCACTGGTCCCTCATTGGGAGCTTGGCTGCATCAGGGAATCCCCACCCCGGGCTAGGTTTGCTTGGAGCATCGGGATGCCAGGATCCCCAGTCCTTGTTACCCTCATGTGCCACTCCCAGGGCTGCCCCCGAGATGGTTTCTCTGCTGAAGAGGAATAACTG... |
Task1_train_26657 | Consider this mutation in GCDH, LOC126862860, SYCE2 (glutaryl-CoA dehydrogenase| BRD4-independent group 4 enhancer GRCh37_chr19:13010146-13011345| synaptonemal complex central element protein 2) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Glutaric aciduria, type 1 | GTGTGGTGGGGGCGGGGGGATGGCAGCGGTGGCTGGAGGACCTTGTGTCCTTCCTGGAGAGAAAGGTCCTTCCTGCCTGGTGGCCCTGGGGACCTGAACCTTCTGCTGTCCCTCTTGTCCTTGATGGGCTGGGCTGAGGACAGCCCCACTGGTCCCTCATTGGGAGCTTGGCTGCATCAGGGAATCCCCACCCCGGGCTAGGTTTGCTTGGAGCATCGGGATGCCAGGATCCCCAGTCCTTGTTACCCTCATGTGCCACTCCCAGGGCTGCCCCCGAGATGGTTTCTCTGCTGAAGAGGAATAACTGTGGGAAAGCCCTG... | GTGTGGTGGGGGCGGGGGGATGGCAGCGGTGGCTGGAGGACCTTGTGTCCTTCCTGGAGAGAAAGGTCCTTCCTGCCTGGTGGCCCTGGGGACCTGAACCTTCTGCTGTCCCTCTTGTCCTTGATGGGCTGGGCTGAGGACAGCCCCACTGGTCCCTCATTGGGAGCTTGGCTGCATCAGGGAATCCCCACCCCGGGCTAGGTTTGCTTGGAGCATCGGGATGCCAGGATCCCCAGTCCTTGTTACCCTCATGTGCCACTCCCAGGGCTGCCCCCGAGATGGTTTCTCTGCTGAAGAGGAATAACTGTGGGAAAGCCCTG... |
Task1_train_26658 | This is a variant in FARSA (phenylalanyl-tRNA synthetase subunit alpha), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Rajab interstitial lung disease with brain calcifications 2 | AACAAGACCCCTCACCCCTAAGGAAAGCCACCAGATGGGGGCAACTGCCCACTTTATTAGACAATAGGTGGCCCACAGGTCTCCTCAGGGCCCACCCTCACAGTAGACACACCACACAGGACAACAGAAGGAACCTGCTACCCAGTCCTCTGTCCCTGGGATTCTGGTCCTGGGACAGGTGGGAAAGAGGAAGGTGGGGGCTGGCCTCACAGAGGCCTCATAAATACAAGGTCACTGGCCAGGGATGCAAAGGAGCGCAGCAGCAGGGACTCGGGGAGGATGACCTGTCCTAGAGTGGCCCATGTCACGCAGCCTCCTGT... | AACAAGACCCCTCACCCCTAAGGAAAGCCACCAGATGGGGGCAACTGCCCACTTTATTAGACAATAGGTGGCCCACAGGTCTCCTCAGGGCCCACCCTCACAGTAGACACACCACACAGGACAACAGAAGGAACCTGCTACCCAGTCCTCTGTCCCTGGGATTCTGGTCCTGGGACAGGTGGGAAAGAGGAAGGTGGGGGCTGGCCTCACAGAGGCCTCATAAATACAAGGTCACTGGCCAGGGATGCAAAGGAGCGCAGCAGCAGGGACTCGGGGAGGATGACCTGTCCTAGAGTGGCCCATGTCACGCAGCCTCCTGT... |
Task1_train_26659 | Here’s a variant in FARSA (phenylalanyl-tRNA synthetase subunit alpha) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Rajab interstitial lung disease with brain calcifications 2 | GTGCAGTGGCATGATCTCGGCTAACTGCCAGCTCCGCCTCCAGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCTGGCTAATTGTTTTTGTATTTTTGGTAGAGACGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGCGATCCGCCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAGAGACAAAGTCTTGCTCTGTTGCTTGGCCTGCAGTGCAGTGATGCAATCATAGCTCACTGCAGCCT... | GTGCAGTGGCATGATCTCGGCTAACTGCCAGCTCCGCCTCCAGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCTGGCTAATTGTTTTTGTATTTTTGGTAGAGACGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGCGATCCGCCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAGAGACAAAGTCTTGCTCTGTTGCTTGGCCTGCAGTGCAGTGATGCAATCATAGCTCACTGCAGCCT... |
Task1_train_26660 | This gene mutation involves FARSA (phenylalanyl-tRNA synthetase subunit alpha) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Rajab interstitial lung disease with brain calcifications 2 | TCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCTGGCTAATTGTTTTTGTATTTTTGGTAGAGACGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGCGATCCGCCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAGAGACAAAGTCTTGCTCTGTTGCTTGGCCTGCAGTGCAGTGATGCAATCATAGCTCACTGCAGCCTCAAACTCCCAGGCTCAAGCAATCCTTCACCTCAGCCTCCCGAGTAG... | TCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCTGGCTAATTGTTTTTGTATTTTTGGTAGAGACGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGCGATCCGCCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAGAGACAAAGTCTTGCTCTGTTGCTTGGCCTGCAGTGCAGTGATGCAATCATAGCTCACTGCAGCCTCAAACTCCCAGGCTCAAGCAATCCTTCACCTCAGCCTCCCGAGTAG... |
Task1_train_26661 | A variant affecting Chromosome 19, within the gene NFIX (nuclear factor I X), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Malan overgrowth syndrome | ACTGGCTTGGCACAAGCAAATGGATGGGGATTGAGCCTGAAAGGAGAGAGAGAGAGGGAGTTTGAGAGAGAGAAAAGGAGCAAAAAAAAAAAACACCCCAAAAACCCAACCAGTGCGCACACACACGCGCACACTCACACACACGCCCCATCCCATCCACGTCCTCCCTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGAT... | ACTGGCTTGGCACAAGCAAATGGATGGGGATTGAGCCTGAAAGGAGAGAGAGAGAGGGAGTTTGAGAGAGAGAAAAGGAGCAAAAAAAAAAAACACCCCAAAAACCCAACCAGTGCGCACACACACGCGCACACTCACACACACGCCCCATCCCATCCACGTCCTCCCTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGAT... |
Task1_train_26662 | This variant affects the gene NFIX (nuclear factor I X) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Malan overgrowth syndrome | GAGTTTGAGAGAGAGAAAAGGAGCAAAAAAAAAAAACACCCCAAAAACCCAACCAGTGCGCACACACACGCGCACACTCACACACACGCCCCATCCCATCCACGTCCTCCCTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTT... | GAGTTTGAGAGAGAGAAAAGGAGCAAAAAAAAAAAACACCCCAAAAACCCAACCAGTGCGCACACACACGCGCACACTCACACACACGCCCCATCCCATCCACGTCCTCCCTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTT... |
Task1_train_26663 | This variant lies on Chromosome 19 and affects the gene NFIX (nuclear factor I X). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Malan overgrowth syndrome | ACACACGCCCCATCCCATCCACGTCCTCCCTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTG... | ACACACGCCCCATCCCATCCACGTCCTCCCTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTG... |
Task1_train_26664 | This mutation is located in gene NFIX (nuclear factor I X) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Malan overgrowth syndrome | CTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTT... | CTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTT... |
Task1_train_26665 | A variant on Chromosome 19 in gene NFIX (nuclear factor I X) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; NFIX-related disorder | CTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTT... | CTCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTT... |
Task1_train_26666 | This genomic variant is located on Chromosome 19, within the NFIX (nuclear factor I X) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Malan overgrowth syndrome | TCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTT... | TCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTT... |
Task1_train_26667 | A variant has been detected on Chromosome 19 in NFIX (nuclear factor I X). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Marshall-Smith syndrome | TCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTT... | TCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTT... |
Task1_train_26668 | Given this context: Chromosome 19, gene NFIX (nuclear factor I X) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Malan overgrowth syndrome | TCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTT... | TCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTT... |
Task1_train_26669 | Gene NFIX (nuclear factor I X), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | TCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTT... | TCGATCCTCGATCTCTCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTT... |
Task1_train_26670 | Gene NFIX (nuclear factor I X), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Malan overgrowth syndrome | TCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTTTAAATTTTGCATTTT... | TCCCTCCCCCCCTTCTTCCTTTCCTCCCTCCCTCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTTTAAATTTTGCATTTT... |
Task1_train_26671 | A mutation in NFIX (nuclear factor I X), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTTTAAATTTTGCATTTTTTTCTTTTTTTTTTTTTTTAAACTGGAAGAGG... | TCGCTCCCTCTCTCTCTTTTGCACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTTTAAATTTTGCATTTTTTTCTTTTTTTTTTTTTTTAAACTGGAAGAGG... |
Task1_train_26672 | Assess the clinical impact of this variant on gene NFIX (nuclear factor I X), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Marshall-Smith syndrome | ACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTTTAAATTTTGCATTTTTTTCTTTTTTTTTTTTTTTAAACTGGAAGAGGATGCACAGGGGAAGAAATTGAA... | ACGCGTCTGCCAGCAACGGTCTGCAGCCGGTCAGAACTCGTCCTCTTCCCCGGGAATCTGCGAGCTCCCCCTTTTCCTCCGATCAGGCAGCTCGAAGTTTACACCCCTGTGCCGCTGCCAAAGCCGAAAGCCTTTTTCTTCAGCTGCCGCTTTTTCCCTCCTGGGTTTTGTTTTTGTTTTTGTTTTGCACGGGGGTGGGGTGGGGTGCGTTGTTGGTTGTGGGGAGATGGTGGGAGGCTGGTTTTGATTTTTAAATTTTGCATTTTTTTCTTTTTTTTTTTTTTTAAACTGGAAGAGGATGCACAGGGGAAGAAATTGAA... |
Task1_train_26673 | A mutation in CACNA1A (calcium voltage-gated channel subunit alpha1 A), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Developmental and epileptic encephalopathy, 42 | GGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGA... | GGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGA... |
Task1_train_26674 | Here is a mutation in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Episodic ataxia type 2 | GGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGA... | GGCTCAAGCGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCATCACTGTTATTTCTACAGTTGGGTCACGTTCTCTGGTTTGGCTGAGGCTGGTCTCTGAGGGGGCCTAGGTGGGGAGCAGGGGCCAGTGCCAGGGAGGGGAGGAGGGCTAGGGGCTTTGGGAGGTGAGGGGTGGAGGGGGAGAGAGTGGAGGTGATGGTTGGGGGAGAAATGCAAAGTTACAATCCCCCAGGGGATGTATCTGATTTGGGGTGCCGTGGAGACCCCAGGATGGGCAGCTTCAGCTAAGA... |
Task1_train_26675 | This variant affects gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Episodic ataxia type 2 | GAGAGACTCGTAGGAGGAGAGGGCTCTTCAGGACATCTCATGGTTGACGCCCTCCCTCATTTCCCAGAAAGTCCAGGGTTTGGGCAGGGTTGGCACCCTACGTGTTTAATCTGGGGTATGCAAGGGTGATGATTCTTATATCTTCTCTCCTGACTGAACCTGTGAGACCCCTGCTAGGACCCCAGGAGTTCAGTGCTCCAGAGTCTGGGGCCTGACCTAGCCCGTGTTCCAGTTCCAGGGAGAGGTGAGTATTGTGGCTGGAGGATTCGGGGTGACTTCTTACCAAGCTGCGGGGTCATACTCGGCCCAGACACGCACGT... | GAGAGACTCGTAGGAGGAGAGGGCTCTTCAGGACATCTCATGGTTGACGCCCTCCCTCATTTCCCAGAAAGTCCAGGGTTTGGGCAGGGTTGGCACCCTACGTGTTTAATCTGGGGTATGCAAGGGTGATGATTCTTATATCTTCTCTCCTGACTGAACCTGTGAGACCCCTGCTAGGACCCCAGGAGTTCAGTGCTCCAGAGTCTGGGGCCTGACCTAGCCCGTGTTCCAGTTCCAGGGAGAGGTGAGTATTGTGGCTGGAGGATTCGGGGTGACTTCTTACCAAGCTGCGGGGTCATACTCGGCCCAGACACGCACGT... |
Task1_train_26676 | Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 42 | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... |
Task1_train_26677 | Here is a genetic alteration in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Spinocerebellar ataxia type 6 | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... |
Task1_train_26678 | Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Migraine, familial hemiplegic, 1 | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... |
Task1_train_26679 | This variant affects the gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 52 | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... |
Task1_train_26680 | A variant affecting Chromosome 19, within the gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Episodic ataxia type 2 | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... |
Task1_train_26681 | Given a variant located on Chromosome 19 and affecting CACNA1A (calcium voltage-gated channel subunit alpha1 A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 42 | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... |
Task1_train_26682 | With a mutation on Chromosome 19 in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Episodic ataxia type 2 | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... | GCCTCTCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTC... |
Task1_train_26683 | Located on Chromosome 19, this mutation impacts CACNA1A (calcium voltage-gated channel subunit alpha1 A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Episodic ataxia type 2 | TCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTCCTCCC... | TCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTCCTCCC... |
Task1_train_26684 | Chromosome 19 houses a mutation in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 42 | TCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTCCTCCC... | TCTTGCCCCCAGCCAGGATTCCTGGGCTCTCTCTTCCTTCTCACCATTGCTTTCTTATCCCAACAGCTACAGTTGCTTGAGATGTCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTCCTCCC... |
Task1_train_26685 | A change on Chromosome 19 affects gene CACNA1A (calcium voltage-gated channel subunit alpha1 A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | TCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTCCTTCTCTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTTCC... | TCACCAACTGCCAAAACTTGCACTGACATTTCCCCATTATTGCATGGCTAATACAAACATGGGAAGTGGGTACTATCAATGGCCTCACTTTGCAGATCACCAAAATAGAGGCTTAGAAAGGTTAAACCACTTGCCTGAGGTGACACAGCTACCGAGTGTGCCAAATCAAATTGAAGCCTAATCCTTCTTCCCCTTCCTCCCTCCCTCGCTCCCTCCCTCCTTCCTTCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTCCTTCTCTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTTCC... |
Task1_train_26686 | A variant on Chromosome 19 in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Migraine, familial hemiplegic, 1 | GCTTGAGGACCCTGCAAGGAATGGGGCAGGGAGAGGGAAGGGGCAGGAAGGAGAGAGACAGGGACCCAAGGGGTGATGAGGAAGGTGGAGAGAGGGTGGAAGTGAGATGGCAGAACAGGAACAGAGGGAAATGAAAAAGAAATTTAAGTAGTCGCTGTTTTTTGAAAGGCTGACAACAATGTCAGTTATTTCTTAATTTTAATTTTAATTTTTTGAGATGGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAACGGCGTGATCTTGGGTCACTACAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTC... | GCTTGAGGACCCTGCAAGGAATGGGGCAGGGAGAGGGAAGGGGCAGGAAGGAGAGAGACAGGGACCCAAGGGGTGATGAGGAAGGTGGAGAGAGGGTGGAAGTGAGATGGCAGAACAGGAACAGAGGGAAATGAAAAAGAAATTTAAGTAGTCGCTGTTTTTTGAAAGGCTGACAACAATGTCAGTTATTTCTTAATTTTAATTTTAATTTTTTGAGATGGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAACGGCGTGATCTTGGGTCACTACAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTC... |
Task1_train_26687 | An alteration has been detected in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Episodic ataxia type 2 | GGGGCAGGAAGGAGAGAGACAGGGACCCAAGGGGTGATGAGGAAGGTGGAGAGAGGGTGGAAGTGAGATGGCAGAACAGGAACAGAGGGAAATGAAAAAGAAATTTAAGTAGTCGCTGTTTTTTGAAAGGCTGACAACAATGTCAGTTATTTCTTAATTTTAATTTTAATTTTTTGAGATGGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAACGGCGTGATCTTGGGTCACTACAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACATGCGCCACCAAGCCTG... | GGGGCAGGAAGGAGAGAGACAGGGACCCAAGGGGTGATGAGGAAGGTGGAGAGAGGGTGGAAGTGAGATGGCAGAACAGGAACAGAGGGAAATGAAAAAGAAATTTAAGTAGTCGCTGTTTTTTGAAAGGCTGACAACAATGTCAGTTATTTCTTAATTTTAATTTTAATTTTTTGAGATGGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAACGGCGTGATCTTGGGTCACTACAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACATGCGCCACCAAGCCTG... |
Task1_train_26688 | Chromosome 19 houses a mutation in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 42 | GGGGCAGGAAGGAGAGAGACAGGGACCCAAGGGGTGATGAGGAAGGTGGAGAGAGGGTGGAAGTGAGATGGCAGAACAGGAACAGAGGGAAATGAAAAAGAAATTTAAGTAGTCGCTGTTTTTTGAAAGGCTGACAACAATGTCAGTTATTTCTTAATTTTAATTTTAATTTTTTGAGATGGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAACGGCGTGATCTTGGGTCACTACAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACATGCGCCACCAAGCCTG... | GGGGCAGGAAGGAGAGAGACAGGGACCCAAGGGGTGATGAGGAAGGTGGAGAGAGGGTGGAAGTGAGATGGCAGAACAGGAACAGAGGGAAATGAAAAAGAAATTTAAGTAGTCGCTGTTTTTTGAAAGGCTGACAACAATGTCAGTTATTTCTTAATTTTAATTTTAATTTTTTGAGATGGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAACGGCGTGATCTTGGGTCACTACAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGACATGCGCCACCAAGCCTG... |
Task1_train_26689 | This variant affects the gene CACNA1A, LOC126862864 (calcium voltage-gated channel subunit alpha1 A| MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Episodic ataxia type 2 | CAGGCGTGAGCCACCATGCCCGGCCTCCAAGACCTTTCTTATTGCTAAGCTCTCAGGCCCTTTATCCTCCTGCTCCCCAGGGCTCCTCCTGGATAGATTTCCAGTCGGGCCACTTACTGTGGCCAGCCTTCTCCCGTGGACACGGTGAAGAGGGTCAGCAGAGCCCACAGCACATTGTCGTAATGGAATTCATACTTCTTCCACTCCCGGTCTCGCGCCTTCACCTCATTCTTCTCGTAGAGGAGGTATTTGCCTCTGCCACAGAGAGTGGGGACTGTTAGTAAATGGGAAAGAGGGGCTGTCTTGCACTTGTCTTTGGT... | CAGGCGTGAGCCACCATGCCCGGCCTCCAAGACCTTTCTTATTGCTAAGCTCTCAGGCCCTTTATCCTCCTGCTCCCCAGGGCTCCTCCTGGATAGATTTCCAGTCGGGCCACTTACTGTGGCCAGCCTTCTCCCGTGGACACGGTGAAGAGGGTCAGCAGAGCCCACAGCACATTGTCGTAATGGAATTCATACTTCTTCCACTCCCGGTCTCGCGCCTTCACCTCATTCTTCTCGTAGAGGAGGTATTTGCCTCTGCCACAGAGAGTGGGGACTGTTAGTAAATGGGAAAGAGGGGCTGTCTTGCACTTGTCTTTGGT... |
Task1_train_26690 | A variant has been detected on Chromosome 19 in CACNA1A, LOC126862864 (calcium voltage-gated channel subunit alpha1 A| MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | ACCTTTCTTATTGCTAAGCTCTCAGGCCCTTTATCCTCCTGCTCCCCAGGGCTCCTCCTGGATAGATTTCCAGTCGGGCCACTTACTGTGGCCAGCCTTCTCCCGTGGACACGGTGAAGAGGGTCAGCAGAGCCCACAGCACATTGTCGTAATGGAATTCATACTTCTTCCACTCCCGGTCTCGCGCCTTCACCTCATTCTTCTCGTAGAGGAGGTATTTGCCTCTGCCACAGAGAGTGGGGACTGTTAGTAAATGGGAAAGAGGGGCTGTCTTGCACTTGTCTTTGGTTATCAGAGACAGGGGGAGGGAAAGGAAGAGT... | ACCTTTCTTATTGCTAAGCTCTCAGGCCCTTTATCCTCCTGCTCCCCAGGGCTCCTCCTGGATAGATTTCCAGTCGGGCCACTTACTGTGGCCAGCCTTCTCCCGTGGACACGGTGAAGAGGGTCAGCAGAGCCCACAGCACATTGTCGTAATGGAATTCATACTTCTTCCACTCCCGGTCTCGCGCCTTCACCTCATTCTTCTCGTAGAGGAGGTATTTGCCTCTGCCACAGAGAGTGGGGACTGTTAGTAAATGGGAAAGAGGGGCTGTCTTGCACTTGTCTTTGGTTATCAGAGACAGGGGGAGGGAAAGGAAGAGT... |
Task1_train_26691 | Chromosome 19 houses a mutation in gene CACNA1A, LOC126862864 (calcium voltage-gated channel subunit alpha1 A| MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Migraine, familial hemiplegic, 1 | CCCTTTATCCTCCTGCTCCCCAGGGCTCCTCCTGGATAGATTTCCAGTCGGGCCACTTACTGTGGCCAGCCTTCTCCCGTGGACACGGTGAAGAGGGTCAGCAGAGCCCACAGCACATTGTCGTAATGGAATTCATACTTCTTCCACTCCCGGTCTCGCGCCTTCACCTCATTCTTCTCGTAGAGGAGGTATTTGCCTCTGCCACAGAGAGTGGGGACTGTTAGTAAATGGGAAAGAGGGGCTGTCTTGCACTTGTCTTTGGTTATCAGAGACAGGGGGAGGGAAAGGAAGAGTGGTCCACCAGCCTAGACTGCTTGGGA... | CCCTTTATCCTCCTGCTCCCCAGGGCTCCTCCTGGATAGATTTCCAGTCGGGCCACTTACTGTGGCCAGCCTTCTCCCGTGGACACGGTGAAGAGGGTCAGCAGAGCCCACAGCACATTGTCGTAATGGAATTCATACTTCTTCCACTCCCGGTCTCGCGCCTTCACCTCATTCTTCTCGTAGAGGAGGTATTTGCCTCTGCCACAGAGAGTGGGGACTGTTAGTAAATGGGAAAGAGGGGCTGTCTTGCACTTGTCTTTGGTTATCAGAGACAGGGGGAGGGAAAGGAAGAGTGGTCCACCAGCCTAGACTGCTTGGGA... |
Task1_train_26692 | A change on Chromosome 19 affects gene CACNA1A, LOC126862864 (calcium voltage-gated channel subunit alpha1 A| MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CCACTTACTGTGGCCAGCCTTCTCCCGTGGACACGGTGAAGAGGGTCAGCAGAGCCCACAGCACATTGTCGTAATGGAATTCATACTTCTTCCACTCCCGGTCTCGCGCCTTCACCTCATTCTTCTCGTAGAGGAGGTATTTGCCTCTGCCACAGAGAGTGGGGACTGTTAGTAAATGGGAAAGAGGGGCTGTCTTGCACTTGTCTTTGGTTATCAGAGACAGGGGGAGGGAAAGGAAGAGTGGTCCACCAGCCTAGACTGCTTGGGAAGCAGTGACTCCCCATCCTGCCACCATGTGTTCCTGTGCTTCATAGGGGATG... | CCACTTACTGTGGCCAGCCTTCTCCCGTGGACACGGTGAAGAGGGTCAGCAGAGCCCACAGCACATTGTCGTAATGGAATTCATACTTCTTCCACTCCCGGTCTCGCGCCTTCACCTCATTCTTCTCGTAGAGGAGGTATTTGCCTCTGCCACAGAGAGTGGGGACTGTTAGTAAATGGGAAAGAGGGGCTGTCTTGCACTTGTCTTTGGTTATCAGAGACAGGGGGAGGGAAAGGAAGAGTGGTCCACCAGCCTAGACTGCTTGGGAAGCAGTGACTCCCCATCCTGCCACCATGTGTTCCTGTGCTTCATAGGGGATG... |
Task1_train_26693 | The gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GTACCATCATAGTGCATTGCAGCCTTGAACTCCTGTGTTTAAACAATCCTCCCGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGTGTGCTACCATGCCCCGCTAACTTTTAAAATTTATTTTGTAGGATGGGCTCTCATTATGTTGCCCAACCTGGTCTCCAACTCCTGGCCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACTGCACCTGGCCTCTTACCTAACTTATTTGGTAATGAAACCTGATCTGATTGGACATGAAGCTCTTTATACTTGTTATTTACCCCATTT... | GTACCATCATAGTGCATTGCAGCCTTGAACTCCTGTGTTTAAACAATCCTCCCGCCTCAGCCTCCCGGGTAGCTGGGACTACAGGTGTGTGCTACCATGCCCCGCTAACTTTTAAAATTTATTTTGTAGGATGGGCTCTCATTATGTTGCCCAACCTGGTCTCCAACTCCTGGCCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACTGCACCTGGCCTCTTACCTAACTTATTTGGTAATGAAACCTGATCTGATTGGACATGAAGCTCTTTATACTTGTTATTTACCCCATTT... |
Task1_train_26694 | This alteration occurs within gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Episodic ataxia type 2 | TGTGGTCCTAGCTACCTGGGGGGCTGAGGTGGGAGGATCACTTGAGCCCGGGACGTTGAGGCTGCAGTGAGCCATGATCACGTTACTGCACCCCAACCTGGGCGACAGAGAGAGACATTGTCTCTTAAAAAAAAAAAAAAAAAAAGCCTGTGCAGGTGGGAAAAAGAGAGAAGCCAAAAACGCTCATTCCAGAAGCTGGGGTCGTGGTTACCGGTAAGGCAGGGTTTCTCAAGCTGGGCTCTGTGGACATTTGGGTCTGGATCATCCTCTAGAGTGGGGGCTGTCCTGGGCATCGGCGGGTGCTGAGCAACATCCCTGGC... | TGTGGTCCTAGCTACCTGGGGGGCTGAGGTGGGAGGATCACTTGAGCCCGGGACGTTGAGGCTGCAGTGAGCCATGATCACGTTACTGCACCCCAACCTGGGCGACAGAGAGAGACATTGTCTCTTAAAAAAAAAAAAAAAAAAAGCCTGTGCAGGTGGGAAAAAGAGAGAAGCCAAAAACGCTCATTCCAGAAGCTGGGGTCGTGGTTACCGGTAAGGCAGGGTTTCTCAAGCTGGGCTCTGTGGACATTTGGGTCTGGATCATCCTCTAGAGTGGGGGCTGTCCTGGGCATCGGCGGGTGCTGAGCAACATCCCTGGC... |
Task1_train_26695 | Given this context: Chromosome 19, gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Developmental and epileptic encephalopathy, 42 | TGTGGTCCTAGCTACCTGGGGGGCTGAGGTGGGAGGATCACTTGAGCCCGGGACGTTGAGGCTGCAGTGAGCCATGATCACGTTACTGCACCCCAACCTGGGCGACAGAGAGAGACATTGTCTCTTAAAAAAAAAAAAAAAAAAAGCCTGTGCAGGTGGGAAAAAGAGAGAAGCCAAAAACGCTCATTCCAGAAGCTGGGGTCGTGGTTACCGGTAAGGCAGGGTTTCTCAAGCTGGGCTCTGTGGACATTTGGGTCTGGATCATCCTCTAGAGTGGGGGCTGTCCTGGGCATCGGCGGGTGCTGAGCAACATCCCTGGC... | TGTGGTCCTAGCTACCTGGGGGGCTGAGGTGGGAGGATCACTTGAGCCCGGGACGTTGAGGCTGCAGTGAGCCATGATCACGTTACTGCACCCCAACCTGGGCGACAGAGAGAGACATTGTCTCTTAAAAAAAAAAAAAAAAAAAGCCTGTGCAGGTGGGAAAAAGAGAGAAGCCAAAAACGCTCATTCCAGAAGCTGGGGTCGTGGTTACCGGTAAGGCAGGGTTTCTCAAGCTGGGCTCTGTGGACATTTGGGTCTGGATCATCCTCTAGAGTGGGGGCTGTCCTGGGCATCGGCGGGTGCTGAGCAACATCCCTGGC... |
Task1_train_26696 | This variant affects the gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Episodic ataxia type 2 | TGTGGTCCTAGCTACCTGGGGGGCTGAGGTGGGAGGATCACTTGAGCCCGGGACGTTGAGGCTGCAGTGAGCCATGATCACGTTACTGCACCCCAACCTGGGCGACAGAGAGAGACATTGTCTCTTAAAAAAAAAAAAAAAAAAAGCCTGTGCAGGTGGGAAAAAGAGAGAAGCCAAAAACGCTCATTCCAGAAGCTGGGGTCGTGGTTACCGGTAAGGCAGGGTTTCTCAAGCTGGGCTCTGTGGACATTTGGGTCTGGATCATCCTCTAGAGTGGGGGCTGTCCTGGGCATCGGCGGGTGCTGAGCAACATCCCTGGC... | TGTGGTCCTAGCTACCTGGGGGGCTGAGGTGGGAGGATCACTTGAGCCCGGGACGTTGAGGCTGCAGTGAGCCATGATCACGTTACTGCACCCCAACCTGGGCGACAGAGAGAGACATTGTCTCTTAAAAAAAAAAAAAAAAAAAGCCTGTGCAGGTGGGAAAAAGAGAGAAGCCAAAAACGCTCATTCCAGAAGCTGGGGTCGTGGTTACCGGTAAGGCAGGGTTTCTCAAGCTGGGCTCTGTGGACATTTGGGTCTGGATCATCCTCTAGAGTGGGGGCTGTCCTGGGCATCGGCGGGTGCTGAGCAACATCCCTGGC... |
Task1_train_26697 | This variant lies on Chromosome 19 and affects the gene CACNA1A (calcium voltage-gated channel subunit alpha1 A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 42 | CATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTA... | CATCATAGCCTAGACATCCTGGGCTCCAGTGACCCTCCTGCCTCAGCCTCCCAAGTAGTTGGGACTGCAGGTGCATGCCACCACATCTGTTTAATTTTTTATATTTTATAGAGATGGGGTCTGCCTCTATTGCCCAGACTGGTCTCCAACTCCTGGTATCAAGTGATCCTCCCACCTTGGCCTCCCAACAGAGTGGCTTTTCAAACTTCCAAAGAATAGCATTAGGTAAATAGAGTTGGCTGAAAATGGCCAAAAATGCTCTAAATTTACCGAGCACTTATTATGTGTCAGCTGCTCTTCCAGGCCCTTTGCATACATTA... |
Task1_train_26698 | Consider a variant on Chromosome 19 in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A). Determine its clinical classification and disease relevance. | Pathogenic; Migraine, familial hemiplegic, 1 | CTGCTGCTCACTGGTGGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAG... | CTGCTGCTCACTGGTGGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAG... |
Task1_train_26699 | With a mutation on Chromosome 19 in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Migraine, familial hemiplegic, 1 | TGCTCACTGGTGGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGG... | TGCTCACTGGTGGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGG... |
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