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 |
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Task1_train_18800 | Given this context: Chromosome 12, gene OAS1 (2'-5'-oligoadenylate synthetase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | GCTTAAAGTTCATGTTACTCTCATCTTTGTCCCAACATGAGATCTCATCAAACGTATGCAGCACGTTGGGAGATAGATATTTATAATTTGCAGGAACATTTGGACAGGAAGTGTAACCTCTCAGAGGCTCCCTTGCCACATCAGGAGAATTGGTAAAACCACACTACCTGTATCATATCATTATTTTAAGTGATAAATGATCATCTACATTCAGCTCTGATGAGTAATAGGTGTTCAAAAATAGGAACTTCCAGCCAAGTGTGGTGGCTCATGCTTGTAATTCCAACACTTTTGGAGGCTGAGGCAGGAGGGTCGCTTGA... | GCTTAAAGTTCATGTTACTCTCATCTTTGTCCCAACATGAGATCTCATCAAACGTATGCAGCACGTTGGGAGATAGATATTTATAATTTGCAGGAACATTTGGACAGGAAGTGTAACCTCTCAGAGGCTCCCTTGCCACATCAGGAGAATTGGTAAAACCACACTACCTGTATCATATCATTATTTTAAGTGATAAATGATCATCTACATTCAGCTCTGATGAGTAATAGGTGTTCAAAAATAGGAACTTCCAGCCAAGTGTGGTGGCTCATGCTTGTAATTCCAACACTTTTGGAGGCTGAGGCAGGAGGGTCGCTTGA... |
Task1_train_18801 | A variant found in Chromosome 12 affects TBX5 (T-box transcription factor 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Holt-Oram syndrome | ACTGGGCACTGGATTCACAAAGGCTTGTGTTGACCACTGAGGCTGTGAGGTTCAACAGGCCACTTTGTAGATTAAAATTAGTGTCTTTTAGAGCAAAACAGCTACTACTTTCTGAGTCAACCCTGAGATAACATATGATGTGTATGATTTTTTGACATCTCTGCACCAAGCCTATGAGACAAGTCGTACCCTGAGCCCATATTTACAGATTTTTAAAAATGAGGCTTGGAAAGGTTAAGCAACTTGTCACTACTTATGAAAATTTTTAAATTGCAAAGGTGAACTTCATCCTGATTGATTCTACAGACCACAGATGTAAA... | ACTGGGCACTGGATTCACAAAGGCTTGTGTTGACCACTGAGGCTGTGAGGTTCAACAGGCCACTTTGTAGATTAAAATTAGTGTCTTTTAGAGCAAAACAGCTACTACTTTCTGAGTCAACCCTGAGATAACATATGATGTGTATGATTTTTTGACATCTCTGCACCAAGCCTATGAGACAAGTCGTACCCTGAGCCCATATTTACAGATTTTTAAAAATGAGGCTTGGAAAGGTTAAGCAACTTGTCACTACTTATGAAAATTTTTAAATTGCAAAGGTGAACTTCATCCTGATTGATTCTACAGACCACAGATGTAAA... |
Task1_train_18802 | Mutation context: Chromosome 12, Gene TBX5 (T-box transcription factor 5). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | ACAAACCTAGGGGGGTGGCCAGGCCAGATGGGAAGGTCATGGCTAACCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGG... | ACAAACCTAGGGGGGTGGCCAGGCCAGATGGGAAGGTCATGGCTAACCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGG... |
Task1_train_18803 | Given this context: Chromosome 12, gene TBX5 (T-box transcription factor 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | ACCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTG... | ACCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTG... |
Task1_train_18804 | The gene TBX5 (T-box transcription factor 5) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Aortic valve disease 2 | CCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGA... | CCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGA... |
Task1_train_18805 | With a mutation on Chromosome 12 in gene TBX5 (T-box transcription factor 5), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cardiovascular phenotype | CCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGA... | CCAGGCAAAAGAGTCCAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGA... |
Task1_train_18806 | Here is a variant affecting TBX5 (T-box transcription factor 5) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Holt-Oram syndrome | CAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAG... | CAAACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAG... |
Task1_train_18807 | This variant affects the gene TBX5 (T-box transcription factor 5) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cardiovascular phenotype | ACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGA... | ACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGA... |
Task1_train_18808 | A variant has been detected on Chromosome 12 in TBX5 (T-box transcription factor 5). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Aortic valve disease 2 | ACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGA... | ACCTTATAGTGATGGCAACAGGAGACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGA... |
Task1_train_18809 | This gene mutation involves TBX5 (T-box transcription factor 5) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Aortic valve disease 2 | GACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCC... | GACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCC... |
Task1_train_18810 | Here is a variant affecting TBX5 (T-box transcription factor 5) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Holt-Oram syndrome | GACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCC... | GACTTGGACATGTTCTCCACTGCAAAGAGAACTTGCCTGATTTGTGTTTTACAAAGATCTCTTTGGTGGCTGCCTAAAGAAAGTCCCTGGAGGAGACCAGAACTGAATTTGGGTCTCCATTAGTTAGGAGGCTGGTGGTGGCTAGAATTAGCACCCTGGCAGAAGGGGGCTGAATTCCGAGTTATGCTGGAAGGTATAATCAGTAGGAGGTGGTAACTGGTAAAGTTTGAAGGGATGATTCAACACACCTTAAATCTATTATTCACCCCCTGCCCTTGACCTTGTAAAAAGGAGGGAAGAAGTAAGAGATGATGAAACCC... |
Task1_train_18811 | A variant has been detected on Chromosome 12 in TBX5 (T-box transcription factor 5). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CGTCCCACTTCCCAGCGTCAAGGACCACGCAGGACCCCACCCAAGGGTCCCATCCTCCAGAAGGAGCCAGCCCAGAGATGCATGTGGAACCTTTAGAAATGGCTCCGGTTTTCCCTGGTGCTGGTAAGGCATCTGCTGGGGACTGGCAGATACACAGCCAGGGCGGGTCAGCCAATGCCTACACAAGCTGAATTTACAGAGCACCTCCTGGGAAGCCCAGCAAGAAGGACTCGTGGGCAAAACACCCGGGTTTAACAGAGTGGCTCTGCATTTGCCTGGGAATGCCTTCCGAGCGCTCCAAGCAGGCTGCACAGAGAGTG... | CGTCCCACTTCCCAGCGTCAAGGACCACGCAGGACCCCACCCAAGGGTCCCATCCTCCAGAAGGAGCCAGCCCAGAGATGCATGTGGAACCTTTAGAAATGGCTCCGGTTTTCCCTGGTGCTGGTAAGGCATCTGCTGGGGACTGGCAGATACACAGCCAGGGCGGGTCAGCCAATGCCTACACAAGCTGAATTTACAGAGCACCTCCTGGGAAGCCCAGCAAGAAGGACTCGTGGGCAAAACACCCGGGTTTAACAGAGTGGCTCTGCATTTGCCTGGGAATGCCTTCCGAGCGCTCCAAGCAGGCTGCACAGAGAGTG... |
Task1_train_18812 | A variant found in Chromosome 12 affects TBX5 (T-box transcription factor 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CTAGTAATTAATTATCTTCTACGATGAGATTTGGGGACATTTTTTCAAAAATCAGTGTTTTGTGTTTTGTTTTTCTTTGGGGAAGAGGGGTGATGACCCTACTAAGAATCCACTAAAACCTACACATTCTTTTGGGTGGTGAGCAGGCTGCACATTCAATACCCTGCATTCAGTTTCAGGAAATTCACCAGTCCCCTCTCTTGGGTCCAATCCAGACTCCAAGTTTAGGACCCTGGTTTACATTCGCCTGCTCTGGGCACAGTGTGGAAAGGGAGAAAGCTGGTTGTTGGAAAAAAAACAGATCTCCCCGGGAGTATCAA... | CTAGTAATTAATTATCTTCTACGATGAGATTTGGGGACATTTTTTCAAAAATCAGTGTTTTGTGTTTTGTTTTTCTTTGGGGAAGAGGGGTGATGACCCTACTAAGAATCCACTAAAACCTACACATTCTTTTGGGTGGTGAGCAGGCTGCACATTCAATACCCTGCATTCAGTTTCAGGAAATTCACCAGTCCCCTCTCTTGGGTCCAATCCAGACTCCAAGTTTAGGACCCTGGTTTACATTCGCCTGCTCTGGGCACAGTGTGGAAAGGGAGAAAGCTGGTTGTTGGAAAAAAAACAGATCTCCCCGGGAGTATCAA... |
Task1_train_18813 | Located on Chromosome 12, this mutation impacts TBX5 (T-box transcription factor 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Aortic valve disease 2 | GGGGTGATGACCCTACTAAGAATCCACTAAAACCTACACATTCTTTTGGGTGGTGAGCAGGCTGCACATTCAATACCCTGCATTCAGTTTCAGGAAATTCACCAGTCCCCTCTCTTGGGTCCAATCCAGACTCCAAGTTTAGGACCCTGGTTTACATTCGCCTGCTCTGGGCACAGTGTGGAAAGGGAGAAAGCTGGTTGTTGGAAAAAAAACAGATCTCCCCGGGAGTATCAAGCTAAAAAGTGGCACTGGCACCATAGTTCTCTTATGAGTTCATTTCCCATCTGGAAAAGAGGGGGCAGGTGAGCTGGGCTCTCCCT... | GGGGTGATGACCCTACTAAGAATCCACTAAAACCTACACATTCTTTTGGGTGGTGAGCAGGCTGCACATTCAATACCCTGCATTCAGTTTCAGGAAATTCACCAGTCCCCTCTCTTGGGTCCAATCCAGACTCCAAGTTTAGGACCCTGGTTTACATTCGCCTGCTCTGGGCACAGTGTGGAAAGGGAGAAAGCTGGTTGTTGGAAAAAAAACAGATCTCCCCGGGAGTATCAAGCTAAAAAGTGGCACTGGCACCATAGTTCTCTTATGAGTTCATTTCCCATCTGGAAAAGAGGGGGCAGGTGAGCTGGGCTCTCCCT... |
Task1_train_18814 | The gene TBX5 (T-box transcription factor 5) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Holt-Oram syndrome | GGGTTTCCCTTGAAGTTATAGGGAGGAGAAAGGCGAAGGGAGGAGGTAACAGCAGGCGGGCAACTGTAGGTAACCTAAGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGC... | GGGTTTCCCTTGAAGTTATAGGGAGGAGAAAGGCGAAGGGAGGAGGTAACAGCAGGCGGGCAACTGTAGGTAACCTAAGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGC... |
Task1_train_18815 | Here is a variant affecting TBX5 (T-box transcription factor 5) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Holt-Oram syndrome | AGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGA... | AGCGGAAAACAAACCAGGACGCATGCGCCTCTAGAGAACGGGTTTTGAAGATGCTTCAAAGGGACCTCCATTTCAACTCTTGCTAACCGCCCTTTTCGGAGCCAGACACCTATTATTAATATTTGTGGGGAGAGGAGGCTTATTAGGTACAATGCTAGGCGCTGATCCTAGAGGATCTGTCTAGCCAGGTGCTTCCGCCGATCCTCGCGTTGCTAAGGTGTCACGTGTACACAAGGTGTGTGCGCCCCAGAGATGCACACGCGTGGGTGCGCCCAGGCTTCCCGACCTTGCTTTGGTCCTCTGCCGCTGGAGGAAGGGGA... |
Task1_train_18816 | Here is a variant affecting TBX5 (T-box transcription factor 5) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Holt-Oram syndrome | TCTCTATATTCCCTCTCCTTTTGCCCCTTTCCTTCCTTCTTCTCTTCCAAGCCACCTTTTCTTCTTCACCTCTCCCACAATTTCTCCTCGTCCCTCTCTCTACACAACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAG... | TCTCTATATTCCCTCTCCTTTTGCCCCTTTCCTTCCTTCTTCTCTTCCAAGCCACCTTTTCTTCTTCACCTCTCCCACAATTTCTCCTCGTCCCTCTCTCTACACAACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAG... |
Task1_train_18817 | This alteration occurs within gene TBX5 (T-box transcription factor 5) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | AACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACTGCAGAATTATCTGGAGCACCCAACAGCCTCTGCCCAGGGATCCCTATGTAGGCTGAATCCCTGAGG... | AACAAACCATCTCACCTTCCAGCCTTGGTTATGATCATTTCCGTGCCCACTTCGTGGAATTTTAGCCACAGTTCTCTTTCATGGAGAAACACTTTGATTCCCTCCATGCCCTGCAAGAAGGAGAAAAAAGTCACACTAACAAGCCCTGGCAGTAGTGGGCATTCCTTCCCCAAACTCCCCCAAAACACAGAGACTGCTCCTCCTTCCCGCTGGAGCCTGTGGTCTCAGAGAGTAAAAAGTGGCTTCAGCCCACTGCAGAATTATCTGGAGCACCCAACAGCCTCTGCCCAGGGATCCCTATGTAGGCTGAATCCCTGAGG... |
Task1_train_18818 | Here is a mutation in MED13L (mediator complex subunit 13L) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cardiac anomalies - developmental delay - facial dysmorphism syndrome | AGCGTTGTACTGCTCCAAAACAAACCTGCCAAAGAGAACACACAGAGCAGGGGCGTGAGCCTCAAGAGGGAAGGCTGGTTCTCAGATTCTAATACATTCCAGATCTTAGCAGGAAGGAGGTCTCAAAGGCATTCCTTAACTTGCCCCAGGCTCTTTCCCTCATCCTTTGTCTCATGTTCCTCCTTCCTTCTAGATATGGACTATCCAGTACAGTAGCCAGCAGCCACACATGGCCATTGAGCTCCGCCAGTGAGGCCAGTAGGAACTTGCGTGGACTGCAGGTAAAGTAGGCACTGGAGCCCAAACACTTAGGGGCCAGG... | AGCGTTGTACTGCTCCAAAACAAACCTGCCAAAGAGAACACACAGAGCAGGGGCGTGAGCCTCAAGAGGGAAGGCTGGTTCTCAGATTCTAATACATTCCAGATCTTAGCAGGAAGGAGGTCTCAAAGGCATTCCTTAACTTGCCCCAGGCTCTTTCCCTCATCCTTTGTCTCATGTTCCTCCTTCCTTCTAGATATGGACTATCCAGTACAGTAGCCAGCAGCCACACATGGCCATTGAGCTCCGCCAGTGAGGCCAGTAGGAACTTGCGTGGACTGCAGGTAAAGTAGGCACTGGAGCCCAAACACTTAGGGGCCAGG... |
Task1_train_18819 | A variant has been detected on Chromosome 12 in MED13L (mediator complex subunit 13L). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Transposition of the great arteries, dextro-looped | AGCGTTGTACTGCTCCAAAACAAACCTGCCAAAGAGAACACACAGAGCAGGGGCGTGAGCCTCAAGAGGGAAGGCTGGTTCTCAGATTCTAATACATTCCAGATCTTAGCAGGAAGGAGGTCTCAAAGGCATTCCTTAACTTGCCCCAGGCTCTTTCCCTCATCCTTTGTCTCATGTTCCTCCTTCCTTCTAGATATGGACTATCCAGTACAGTAGCCAGCAGCCACACATGGCCATTGAGCTCCGCCAGTGAGGCCAGTAGGAACTTGCGTGGACTGCAGGTAAAGTAGGCACTGGAGCCCAAACACTTAGGGGCCAGG... | AGCGTTGTACTGCTCCAAAACAAACCTGCCAAAGAGAACACACAGAGCAGGGGCGTGAGCCTCAAGAGGGAAGGCTGGTTCTCAGATTCTAATACATTCCAGATCTTAGCAGGAAGGAGGTCTCAAAGGCATTCCTTAACTTGCCCCAGGCTCTTTCCCTCATCCTTTGTCTCATGTTCCTCCTTCCTTCTAGATATGGACTATCCAGTACAGTAGCCAGCAGCCACACATGGCCATTGAGCTCCGCCAGTGAGGCCAGTAGGAACTTGCGTGGACTGCAGGTAAAGTAGGCACTGGAGCCCAAACACTTAGGGGCCAGG... |
Task1_train_18820 | Mutation context: Chromosome 12, Gene MED13L (mediator complex subunit 13L). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | AAATATTGTATTATTTTGCTTGTAAAAAGTCAGTAGATGTCTCACATAAGGACCTTTAAACATAACAGTAATTATCACAGAAAAATTAACAATGATTCCTTAATATTATCACCCCATCTGTAGGATAATGAGGAAGATAATGCTCCATTATCTCAAAAATGTCTTTTTATAATTGGTTTACTAAAATCATGAGCCAACATGATCTGTACATGACAAATGATTAAAGGCATGAAATGTCTACTGTCCCACTTGAAGTCACATGATTCATCACTGGGTTCAGGTGATACCAGGACACTACATCCATCATAAAGTTCCTCATC... | AAATATTGTATTATTTTGCTTGTAAAAAGTCAGTAGATGTCTCACATAAGGACCTTTAAACATAACAGTAATTATCACAGAAAAATTAACAATGATTCCTTAATATTATCACCCCATCTGTAGGATAATGAGGAAGATAATGCTCCATTATCTCAAAAATGTCTTTTTATAATTGGTTTACTAAAATCATGAGCCAACATGATCTGTACATGACAAATGATTAAAGGCATGAAATGTCTACTGTCCCACTTGAAGTCACATGATTCATCACTGGGTTCAGGTGATACCAGGACACTACATCCATCATAAAGTTCCTCATC... |
Task1_train_18821 | This sequence change occurs on Chromosome 12, altering MED13L (mediator complex subunit 13L). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CTTCATCACATAAAGTTGTATAATAGAGCCAGTTAAGAATACAAAGAATCTTTGGGATGGCAAATGAAAGATGTAATAGATCTAAATAATGACCTAAATGATTTAAACGATTACACAGCAAAAGCTTGCATGTGACCTTTTTGGGGAAACCTGTATGTATGAAAGAGATTAAACTGCTGAATGGGTTCTTAAAACTGCTATGTCATTTATTGGCAACTGTATGTGCTAAGCTAACCCCTTATGCGCCAAGGTGTTCTAGGTGTGTTGTGCCAGGATCTAGCTGAGTAAGCTAGAGTACAATCGGAGCACAGCAGCAGCAC... | CTTCATCACATAAAGTTGTATAATAGAGCCAGTTAAGAATACAAAGAATCTTTGGGATGGCAAATGAAAGATGTAATAGATCTAAATAATGACCTAAATGATTTAAACGATTACACAGCAAAAGCTTGCATGTGACCTTTTTGGGGAAACCTGTATGTATGAAAGAGATTAAACTGCTGAATGGGTTCTTAAAACTGCTATGTCATTTATTGGCAACTGTATGTGCTAAGCTAACCCCTTATGCGCCAAGGTGTTCTAGGTGTGTTGTGCCAGGATCTAGCTGAGTAAGCTAGAGTACAATCGGAGCACAGCAGCAGCAC... |
Task1_train_18822 | This gene mutation involves MED13L (mediator complex subunit 13L) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | GCCATTACCAGTCAGCATAATATATGATAATTTGGGAGATCGCTCTACTTGGTTATTTTAATTACCTGTAAGTGTCAATGTGGTCACCAGTAACCACACAAAAACCATTTTAAATACCCCTTGATCAATATGTTTGCTAATCTATGGAAGTCCCTGAACCTGACTGATACTAAATGATAAGACTGAGGAGGGAAAAAGTTGAGGCAAAAGGGGGTTTTACTCCCACATACCAAAAAATCAAGGGAAAATTATCACAATACTAAGAGAAAGAATTCCAACTTATAAATGAATTTTAAGATTAAATATCTGGATTAAAATAT... | GCCATTACCAGTCAGCATAATATATGATAATTTGGGAGATCGCTCTACTTGGTTATTTTAATTACCTGTAAGTGTCAATGTGGTCACCAGTAACCACACAAAAACCATTTTAAATACCCCTTGATCAATATGTTTGCTAATCTATGGAAGTCCCTGAACCTGACTGATACTAAATGATAAGACTGAGGAGGGAAAAAGTTGAGGCAAAAGGGGGTTTTACTCCCACATACCAAAAAATCAAGGGAAAATTATCACAATACTAAGAGAAAGAATTCCAACTTATAAATGAATTTTAAGATTAAATATCTGGATTAAAATAT... |
Task1_train_18823 | This variant affects the gene HSPB8 (heat shock protein family B (small) member 8) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2L | TTACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTAT... | TTACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTAT... |
Task1_train_18824 | A genetic alteration is present in HSPB8 (heat shock protein family B (small) member 8) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2L | TACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATT... | TACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATT... |
Task1_train_18825 | This alteration in HSPB8 (heat shock protein family B (small) member 8) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neuronopathy, distal hereditary motor, type 2A | ACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTT... | ACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTT... |
Task1_train_18826 | This variant affects gene HSPB8 (heat shock protein family B (small) member 8) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | ACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTT... | ACACATTTCTGAGAAACATAGAAAAGTCGGAACATATAAAAGATATTATTAATAGCTTCCGTGGGGTGACAGGATTATAAGTAGTTTTGATGGCTTTTTTTTTTAATTTTTTCTTTTGTTATTGTTGTTTTTTTTAAATTTAGAGACCAGATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCATTATAGCTTACTGTAACCTCAAACTCCTGGGCTCAAGCAATCTTCCCACCTCAGCCTCCCAAATAGCTAGGACTACAGGCACACACCATCACACCTGGATAATAATAATAATAGTAATTATTATTATTATTT... |
Task1_train_18827 | Here is a variant affecting CIT (citron rho-interacting serine/threonine kinase) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Microcephaly 17, primary, autosomal recessive | TAGTGCTGAGGTTACACTGTCAATGTACCTTGCTTCAATTTATTTCTAAATCCATGATTTTTTTTTAATTTCACGAATGCAGCATATAAATTTGTTTTAAGACAGGGTCTTGTTCTGTCGCCCAGGCTGGAATGCAATGGTGCAAACACGGTCATTGCAGCCTCAACCTCCTTCGCTCCAGCGATCCTACTGTCTTGGCCTCCCATGTGGCTGGAGCTACAAGCATGTACTACCATGTCTGGCTAATTTTTTGATTTTTTGTAGAGACTAGGTCTCATTTTGTTGCCCAGGCTGGTCTCAAACTCCAGCAATCCTCCCGC... | TAGTGCTGAGGTTACACTGTCAATGTACCTTGCTTCAATTTATTTCTAAATCCATGATTTTTTTTTAATTTCACGAATGCAGCATATAAATTTGTTTTAAGACAGGGTCTTGTTCTGTCGCCCAGGCTGGAATGCAATGGTGCAAACACGGTCATTGCAGCCTCAACCTCCTTCGCTCCAGCGATCCTACTGTCTTGGCCTCCCATGTGGCTGGAGCTACAAGCATGTACTACCATGTCTGGCTAATTTTTTGATTTTTTGTAGAGACTAGGTCTCATTTTGTTGCCCAGGCTGGTCTCAAACTCCAGCAATCCTCCCGC... |
Task1_train_18828 | Here is a genetic alteration in CIT (citron rho-interacting serine/threonine kinase) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive primary microcephaly | GTCAGTCAAAGCCAGTCTGCCAATAGATTCATATGTGAATGTCCTCACTCAGAGGACAAGGAAAACTTCTCTCCAGGCACTGGGTTCTCAACTAATATGAAACCAAGACACATAAACTTATTTATTTTAGGTCAGGAATAAAAGCAGCAAATTCCCCAAAAACGGGCCAGTAGAAGTTTAAGATAAGTGGGAGTTCATCCCTCTTACCCTTTTCTCTTACGTGAGCCTGTTTATCTCCATTCAAGGTAACATGATAGTCCTCTTTTAAGGGCTGAATCAGGAACAAAAATTGTTTCCAGGATACACTTGTTAAATTTAGG... | GTCAGTCAAAGCCAGTCTGCCAATAGATTCATATGTGAATGTCCTCACTCAGAGGACAAGGAAAACTTCTCTCCAGGCACTGGGTTCTCAACTAATATGAAACCAAGACACATAAACTTATTTATTTTAGGTCAGGAATAAAAGCAGCAAATTCCCCAAAAACGGGCCAGTAGAAGTTTAAGATAAGTGGGAGTTCATCCCTCTTACCCTTTTCTCTTACGTGAGCCTGTTTATCTCCATTCAAGGTAACATGATAGTCCTCTTTTAAGGGCTGAATCAGGAACAAAAATTGTTTCCAGGATACACTTGTTAAATTTAGG... |
Task1_train_18829 | A genomic change on Chromosome 12 affects CIT (citron rho-interacting serine/threonine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Microcephaly 17, primary, autosomal recessive | CCAGGCGGCAGGCCTTGTCTGCAGAACAGCATCCCTCCCTCCTCTCGGGCACTTCTTTTCCTTCCCTTCACTGCTTGTGCTGGCTTCTCTCATGCCCTTAAATTCCAAATGGCTCAGTTAAGGACCCTACTTTTCTTTTCTATGCATCCTCTTAAGGAATGAATAGGCGGCTTTAGTTAGCGCCTGTATGTGTATAATTTTATAAGCCCCCAGCCCACACTTCCACACGGTCATTTCAGGCCATTCACCTGGAGGAAGGTATACCTATTTGAATATCTCTATTGTTTGCCTGCCGTGTGGCCTGTTGGATTATTTTCTTT... | CCAGGCGGCAGGCCTTGTCTGCAGAACAGCATCCCTCCCTCCTCTCGGGCACTTCTTTTCCTTCCCTTCACTGCTTGTGCTGGCTTCTCTCATGCCCTTAAATTCCAAATGGCTCAGTTAAGGACCCTACTTTTCTTTTCTATGCATCCTCTTAAGGAATGAATAGGCGGCTTTAGTTAGCGCCTGTATGTGTATAATTTTATAAGCCCCCAGCCCACACTTCCACACGGTCATTTCAGGCCATTCACCTGGAGGAAGGTATACCTATTTGAATATCTCTATTGTTTGCCTGCCGTGTGGCCTGTTGGATTATTTTCTTT... |
Task1_train_18830 | A mutation on Chromosome 12 affecting CIT (citron rho-interacting serine/threonine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Microcephaly 17, primary, autosomal recessive | CCTTCCCTTCACTGCTTGTGCTGGCTTCTCTCATGCCCTTAAATTCCAAATGGCTCAGTTAAGGACCCTACTTTTCTTTTCTATGCATCCTCTTAAGGAATGAATAGGCGGCTTTAGTTAGCGCCTGTATGTGTATAATTTTATAAGCCCCCAGCCCACACTTCCACACGGTCATTTCAGGCCATTCACCTGGAGGAAGGTATACCTATTTGAATATCTCTATTGTTTGCCTGCCGTGTGGCCTGTTGGATTATTTTCTTTTTACACGCACTATTTCCCATCAAAAACATAAGCATCACAAGGTCAGGGCTACACGTAAT... | CCTTCCCTTCACTGCTTGTGCTGGCTTCTCTCATGCCCTTAAATTCCAAATGGCTCAGTTAAGGACCCTACTTTTCTTTTCTATGCATCCTCTTAAGGAATGAATAGGCGGCTTTAGTTAGCGCCTGTATGTGTATAATTTTATAAGCCCCCAGCCCACACTTCCACACGGTCATTTCAGGCCATTCACCTGGAGGAAGGTATACCTATTTGAATATCTCTATTGTTTGCCTGCCGTGTGGCCTGTTGGATTATTTTCTTTTTACACGCACTATTTCCCATCAAAAACATAAGCATCACAAGGTCAGGGCTACACGTAAT... |
Task1_train_18831 | Here is a variant affecting GATC, LOC112163529 (glutamyl-tRNA amidotransferase subunit C| BRD4-independent group 4 enhancer GRCh37_chr12:120883528-120884727) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cardiomyopathy, mitochondrial | TCTCTCCTAAGTTCCTCATCAAATCTGATGGCTATGTTCACAGAGTTAGTTGACAAAAATCCAGAGTCCTCAATTTCTGGACTTGCGAAATCCTTCAAGGTGACTGTCAAGGTCAAGAAGAATTTTCAGGCTTTTCTTTGCCATGGCCCATGAACTCCAGTCCTTCAATAGGAATCTCTTTCTCCTTTATTGCTTTCTGGTAGGAGGAGAAAACACATTATAAAGACCTACATGAAGCTTAAGTTGCAAGCTTTGTAAATAAAATATGACAGTACAAAAGTAAAATCAAGCTGATTATAAAGACTTATAACCATGATTCA... | TCTCTCCTAAGTTCCTCATCAAATCTGATGGCTATGTTCACAGAGTTAGTTGACAAAAATCCAGAGTCCTCAATTTCTGGACTTGCGAAATCCTTCAAGGTGACTGTCAAGGTCAAGAAGAATTTTCAGGCTTTTCTTTGCCATGGCCCATGAACTCCAGTCCTTCAATAGGAATCTCTTTCTCCTTTATTGCTTTCTGGTAGGAGGAGAAAACACATTATAAAGACCTACATGAAGCTTAAGTTGCAAGCTTTGTAAATAAAATATGACAGTACAAAAGTAAAATCAAGCTGATTATAAAGACTTATAACCATGATTCA... |
Task1_train_18832 | The gene ACADS (acyl-CoA dehydrogenase short chain) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Deficiency of butyryl-CoA dehydrogenase | GAACAGGCCCTGAGGTGCAGCCCGCAGGTGGGCAGGATGCGCCTGGGCCTGGGGCCTCCGACCGCTCCCCGCTGTCCTCCTAGTCTCTCTACCTGGGGCCCATCTTGAAGTTTGGCTCCAAGGAGCAGAAGCAGGCGTGGGTCACGCCTTTCACCAGTGGTGACAAAATTGGCTGCTTTGCCCTCAGCGAACCAGGTACCTGCCCTGTCCCCTCACCTGTCCTTAGGGTGACAGGCCCAGAGGGGAGGAGAGGAAGGTGCTAGGCCAACTGCCCACTGCTTCGGAGGCCAGAGGGGAGGCTCCCCGTGTGGTTGGTAGGG... | GAACAGGCCCTGAGGTGCAGCCCGCAGGTGGGCAGGATGCGCCTGGGCCTGGGGCCTCCGACCGCTCCCCGCTGTCCTCCTAGTCTCTCTACCTGGGGCCCATCTTGAAGTTTGGCTCCAAGGAGCAGAAGCAGGCGTGGGTCACGCCTTTCACCAGTGGTGACAAAATTGGCTGCTTTGCCCTCAGCGAACCAGGTACCTGCCCTGTCCCCTCACCTGTCCTTAGGGTGACAGGCCCAGAGGGGAGGAGAGGAAGGTGCTAGGCCAACTGCCCACTGCTTCGGAGGCCAGAGGGGAGGCTCCCCGTGTGGTTGGTAGGG... |
Task1_train_18833 | Given this variant in gene HNF1A (HNF1 homeobox A) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Monogenic diabetes | CGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGG... | CGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGG... |
Task1_train_18834 | Here is a mutation in HNF1A (HNF1 homeobox A) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Monogenic diabetes | CGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGG... | CGAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGG... |
Task1_train_18835 | Chromosome 12 houses a mutation in gene HNF1A (HNF1 homeobox A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Monogenic diabetes | GAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGC... | GAGACTAGTCTGGCCAACATGGTAAAACCCCATCTCTACCAAAAATACAAAAATTAGCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGC... |
Task1_train_18836 | A variant found in Chromosome 12 affects HNF1A (HNF1 homeobox A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Monogenic diabetes | GCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTG... | GCTGGGCGTGGTGGTACATACCTGTAGTTCCAGATACTCGGGAGGCTCAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTG... |
Task1_train_18837 | Given this context: Chromosome 12, gene HNF1A (HNF1 homeobox A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Maturity onset diabetes mellitus in young | CACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAA... | CACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCCCATCTCAAAAAAAAAAAAAAAGAAAGAAAAAAATATATATGTCTATACCATTGCATGGTCAAGCCATATTTTGTTTATATATTCATCAGGTGATGAATATTTATGTTTTTTCCACTTTTTGGCTCTTGTGAATAATGCTGCTATGAGCATTCACGCACAAGTTTTTGTATAGACATCTGTTTTTAATTCTTTGGGGTTTTGCATTCATTTTAATTTTAAAAACATATTGCATAAAAATGTTATTTACCTTGATGACTGGGTTTTTTGGCATTCCCTTAAAA... |
Task1_train_18838 | Assess the clinical impact of this variant on gene HNF1A (HNF1 homeobox A), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Monogenic diabetes | TGGCCAGGCTGGTCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCA... | TGGCCAGGCTGGTCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCA... |
Task1_train_18839 | With a mutation on Chromosome 12 in gene HNF1A (HNF1 homeobox A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Monogenic diabetes | TCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGC... | TCTTGAACTCCTAACCTCAAAAGACCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGC... |
Task1_train_18840 | This variant affects gene HNF1A (HNF1 homeobox A) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | CACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTC... | CACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTC... |
Task1_train_18841 | A genomic change on Chromosome 12 affects HNF1A (HNF1 homeobox A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Monogenic diabetes | AAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTG... | AAAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTG... |
Task1_train_18842 | This sequence change occurs on Chromosome 12, altering HNF1A (HNF1 homeobox A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Monogenic diabetes | AAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGA... | AAGTGCTGGGATTACAGGTGTGAGTCACTGCACCCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGA... |
Task1_train_18843 | The gene HNF1A (HNF1 homeobox A), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Monogenic diabetes | CCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGC... | CCAGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGC... |
Task1_train_18844 | This gene mutation involves HNF1A (HNF1 homeobox A) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Monogenic diabetes | AGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGG... | AGCCTATCTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGG... |
Task1_train_18845 | Gene HNF1A (HNF1 homeobox A) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Monogenic diabetes | CTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCA... | CTGTGACATATTGGTAATATAAGTTCAGGAGAGGGAGAGAGAAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCA... |
Task1_train_18846 | This variant lies on Chromosome 12 and affects the gene HNF1A (HNF1 homeobox A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Monogenic diabetes | AAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGA... | AAAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGA... |
Task1_train_18847 | The gene HNF1A (HNF1 homeobox A) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Monogenic diabetes | AAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGAT... | AAGAGGCAGGGATTGAGACAGAGCAGGAGAGGAGGAGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGAT... |
Task1_train_18848 | This variant lies on Chromosome 12 and affects the gene HNF1A (HNF1 homeobox A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Monogenic diabetes | AGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAAC... | AGAGAAAATTTATATGGCTCAGGCAGTCTGATCCCTTCTGTTCCCCCACAGGGAGACCCACAGCAGAGACATGACTCACAGGTGGCATCAGGTCCCTTTGAGTCTCTCTGGTGGGAGAATCTCAACCCACAGAGTAGGATTCCAGTGTTCACATGCATTTTTGGTACTATGAGGCCTCTGAATGTCAACCCTGTCACCTGAGACTCTGTTGAAAAACCAGCCGCGGCCGGGCGCGGTGGCTCACGCCAGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGATCAGGAGATCGAGACCATCCTGGCTAAC... |
Task1_train_18849 | This is a variant in HNF1A (HNF1 homeobox A), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Monogenic diabetes | AAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAA... | AAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAA... |
Task1_train_18850 | A genetic alteration is present in HNF1A (HNF1 homeobox A) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Monogenic diabetes | AGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAAC... | AGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAAC... |
Task1_train_18851 | A mutation in HNF1A (HNF1 homeobox A), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Monogenic diabetes | CCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTA... | CCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTA... |
Task1_train_18852 | Here is a mutation in HNF1A (HNF1 homeobox A) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Monogenic diabetes | CCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTA... | CCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTA... |
Task1_train_18853 | The gene HNF1A (HNF1 homeobox A) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Monogenic diabetes | CACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAG... | CACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAG... |
Task1_train_18854 | Assess the clinical impact of this variant on gene HNF1A (HNF1 homeobox A), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Monogenic diabetes | GCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTAC... | GCCTGGGTGACAGAGGGAGACTCTGTCAAATAAATGTATGTATGTATGTATGTATGTATGTATGATGTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTAC... |
Task1_train_18855 | A variant was discovered in gene HNF1A (HNF1 homeobox A), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Monogenic diabetes | GTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAG... | GTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAG... |
Task1_train_18856 | An alteration has been detected in HNF1A (HNF1 homeobox A) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Monogenic diabetes | GTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAG... | GTATGTATGTATGCATGCATGCATGCATGCAATAGACAACTCTAGTCCTTACTCTATAGCTACCCCTCATCCCAATTATTGGGGTGTTCACACTCTACTGTGCTGTAATACACACTTGGAAAAACAGTACATTTTAATACTATTTTAATTTGTATGAGAAGAAACAAAGATTTATTCTGAAAATCTGTTAGAACTAGATTTAGTTTCTGAGAGAAATAGTGTTCTCCTAAAACCATCACTAGACGAAATTTTACAATATTCGATAAAATGCATTAAAAAATTTCTAACAGTTAGAAATGTCATCAAGGACTTCAGCCTAG... |
Task1_train_18857 | The gene HNF1A (HNF1 homeobox A), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Monogenic diabetes | AAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGG... | AAGCAATGTGAGGAGTCCAGGGCTGCTTCAGGCATGGCTAGATCAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGG... |
Task1_train_18858 | This is a variant in HNF1A (HNF1 homeobox A), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Monogenic diabetes | CAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGG... | CAAGGGGCTCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGG... |
Task1_train_18859 | A change on Chromosome 12 affects gene HNF1A (HNF1 homeobox A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Monogenic diabetes | TCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACA... | TCAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACA... |
Task1_train_18860 | Consider a variant on Chromosome 12 in gene HNF1A (HNF1 homeobox A). Determine its clinical classification and disease relevance. | Pathogenic; Monogenic diabetes | CAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACAC... | CAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACAC... |
Task1_train_18861 | This gene mutation involves HNF1A (HNF1 homeobox A) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Monogenic diabetes | CAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACAC... | CAAATGAGGTTCACACAGCATTTCTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACAC... |
Task1_train_18862 | This alteration in HNF1A (HNF1 homeobox A) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Monogenic diabetes | CTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGA... | CTTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGA... |
Task1_train_18863 | Given this context: Chromosome 12, gene HNF1A (HNF1 homeobox A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Monogenic diabetes | TTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAA... | TTGACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAA... |
Task1_train_18864 | A mutation found in HNF1A (HNF1 homeobox A) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Monogenic diabetes | GACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAAC... | GACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAAC... |
Task1_train_18865 | Here is a mutation in HNF1A (HNF1 homeobox A) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Monogenic diabetes | GACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAAC... | GACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAAC... |
Task1_train_18866 | This alteration occurs within gene HNF1A (HNF1 homeobox A) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Monogenic diabetes | ACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACT... | ACTCTTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACT... |
Task1_train_18867 | The gene HNF1A (HNF1 homeobox A), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTA... | TTTTCTTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTA... |
Task1_train_18868 | A change on Chromosome 12 affects gene HNF1A (HNF1 homeobox A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Diabetes mellitus | TTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGA... | TTTTTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGA... |
Task1_train_18869 | A variant was discovered on Chromosome 12, affecting HNF1A (HNF1 homeobox A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Monogenic diabetes | TTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGT... | TTTGTTGGCTTCATTCTCAGACAGGCTCTCCTCATATAGGCAAAGATGGGTTCTGGAAGCCCTGGGCTGCCATCCTACCAGCTTAGCAACCTTGGAAGGAAAAGAGCTCTTCTTTTCAGCTACTTTCAGTTGAATGACTCTTTTTATACTTGATAATGTAAACTTTTATTTATTTTATTTTTTGAGATGAGGTCTTGCCATGTTGCCCAGGCTAGTTTTGAACTTCCGGGCTCAAGTGATCCCTGCCTCAGCCTCTTAAGTAGCTGGAATGGCAGGCACACATCACTGTGTCTGCTATAACAGAAACTTTTAAATGAAGT... |
Task1_train_18870 | This is a variant in HNF1A (HNF1 homeobox A), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Monogenic diabetes | CCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACC... | CCCATCCACTCAACTCCATTCACTCCACATGACTCCACATTTCATCCATTCCACTCTACTTCATCCACTCACTCCACTCTATACCATTCCACTCCACTCTATTCACATACTCCACCATTCCAGTCTACTCCATTCACTCCACTCCAACCCACTCACTCCACTCCATACCATTCCACTCCACTGTGTTCACACAACTCCATCCATTCCACTCTAGCCACTCCATTCATTCCACTCCACGCCACACTATTCCTCACCATTCCATCCACTCCACCCTATACCATTCCACTCCACTCTATTCCTCCCCACCCGTCCTCTCCACC... |
Task1_train_18871 | This mutation occurs in HNF1A (HNF1 homeobox A) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Maturity onset diabetes mellitus in young | TCTCCCACTAGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTG... | TCTCCCACTAGCCTAGACAAAGAGCTAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTG... |
Task1_train_18872 | A change on Chromosome 12 affects gene HNF1A (HNF1 homeobox A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Monogenic diabetes | TAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCA... | TAAAGGCTCAGAGAGGGGGAATGACTTGCCAGAGCCACTTAAATTAGTGGCAGGTCCCAGTGGAGGGCTGTTTCCTGACCACCCTGCCCCCTCCTCCAAACCACGGGCTCTGGGAAGGAGAGGTGGTGCCCTTGGGAGGTCTTGGGCAGGGGTGGGATATAACTGGGGGGCCCAGCTGATTCCCTCCCCTTCCACTCCAGGCCTGGCCTCCACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAGCCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCA... |
Task1_train_18873 | A variant on Chromosome 12 in gene C12orf43, HNF1A (chromosome 12 open reading frame 43| HNF1 homeobox A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Monogenic diabetes | GTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCA... | GTTTCTGGCCTCCTCCAGGCTCCCCTGCATCAAGCGCAGCTGAGCAGTTCCCTGTAATGGGGAGAGGGTCTGTCCCTTTATCTGGAGCCTCCAGTTTTGAAAATCAGCCCTGGATCTCCAACTGCTGCCCAGTCTGGCTGTTCAGCAGGCCCCATGCCCCCCTTTCCCCAGTCTTGAGGCCTGGGACTAGGGCTGTCAGGCACGTCTGCCACGTCTGCCCCTCTCTCCCCTGCGGCCAGCCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCA... |
Task1_train_18874 | A mutation on Chromosome 12 affecting KDM2B (lysine demethylase 2B) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | ACTGAGTGTGCCTGCGTCTCCTGCCCCCCCCTTCTACCTCCTCCATCTCTTCTGCCTCTGCCACCTCTGAGACAGCAAGACCAACCCCTCCTCCTCTGCCTACACAATGTGAAGATGATGAGCATGAAGACCTTTATGATGATCCACTTCCACTTAATGAATGATAAATATATTTTCCTTATGATCTTCTTAATATTTTCTTTTCTCTAGCTTATTTTATTGTGAGAATACAGTATATAATACATATAAGATATGTGTTAATGGACTGTTTTTGTTACTGGTAAGGCTTCTGGTCAACAATAGGGCTAACAGTAGTTAAG... | ACTGAGTGTGCCTGCGTCTCCTGCCCCCCCCTTCTACCTCCTCCATCTCTTCTGCCTCTGCCACCTCTGAGACAGCAAGACCAACCCCTCCTCCTCTGCCTACACAATGTGAAGATGATGAGCATGAAGACCTTTATGATGATCCACTTCCACTTAATGAATGATAAATATATTTTCCTTATGATCTTCTTAATATTTTCTTTTCTCTAGCTTATTTTATTGTGAGAATACAGTATATAATACATATAAGATATGTGTTAATGGACTGTTTTTGTTACTGGTAAGGCTTCTGGTCAACAATAGGGCTAACAGTAGTTAAG... |
Task1_train_18875 | A genetic alteration is present in LOC130008987, ORAI1 (ATAC-STARR-seq lymphoblastoid silent region 4981| ORAI calcium release-activated calcium modulator 1) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Combined immunodeficiency due to ORAI1 deficiency | CCTCCTAGGAGACATTCCCTAGCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGG... | CCTCCTAGGAGACATTCCCTAGCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGG... |
Task1_train_18876 | An alteration has been detected in LOC130008987, ORAI1 (ATAC-STARR-seq lymphoblastoid silent region 4981| ORAI calcium release-activated calcium modulator 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Myopathy, tubular aggregate, 2 | TAGCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGGGCGGATCTCCTGACGTCAG... | TAGCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGGGCGGATCTCCTGACGTCAG... |
Task1_train_18877 | This genomic variant is located on Chromosome 12, within the LOC130008987, ORAI1 (ATAC-STARR-seq lymphoblastoid silent region 4981| ORAI calcium release-activated calcium modulator 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Myopathy with tubular aggregates | GCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGGGCGGATCTCCTGACGTCAGGA... | GCACAGTCCTGCATACACCCCCACCTCACCTCTGCTCCCCAAAATTGGCCTTCCAACGCTCCAACAGCCAAATATCCCTGCTTAAAGGTCTTGGCATGAGCAGTTCCCTCGCCGTCCTGGAAAGCTAGATCCTGTCTGTTTGCATGGCGGGCTCTGGTCTCAGCTTAAATGTGACCTAAGTCAGAAAGGTGTGATCTCACTTATTTCCTGCCCCTCTCCACACTCCACTAAAATATAATATTCGGGCCGGGCATGGAGGCTCATGCCTGTAATCGCAGCACTTTGTGAGGCCGAGGCGGGCGGATCTCCTGACGTCAGGA... |
Task1_train_18878 | The following genetic variant occurs in ORAI1 (ORAI calcium release-activated calcium modulator 1) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Combined immunodeficiency due to ORAI1 deficiency | CTGGTGTGTCAGCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGA... | CTGGTGTGTCAGCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGA... |
Task1_train_18879 | Located on Chromosome 12, this mutation impacts ORAI1 (ORAI calcium release-activated calcium modulator 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Myopathy, tubular aggregate, 2 | GCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGACCACTGATGGT... | GCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGACCACTGATGGT... |
Task1_train_18880 | This variant affects gene ORAI1 (ORAI calcium release-activated calcium modulator 1) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Combined immunodeficiency due to ORAI1 deficiency | GCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGACCACTGATGGT... | GCCCTGGGGCTGGGGAGGAGACAGCCCCAGGGTGTACTGGCCACCCAGCCTGCACCAGGGCTGGGCCCGTCGCTTCTGGGAAGCCTGCTCTGTATGTCAGGTCGTGCGCTGTGTTCTCAGAAGGGCCTGAGTGTGCCCTGGGAGGGCAGCCACCACCCCTCTGCATGTCCCCAGAGCAGGGCATGAAGGAGAAGCCTCTGCTTGGGTGTGAGGATGTGGGGCCAGCAGGCATGATGGCTGGCGATTGCTTTTTTTAATGCTTTTATTTTAACCATAGTAAAATACGCATAACAAAATTTACCATTTTGACCACTGATGGT... |
Task1_train_18881 | The gene ORAI1 (ORAI calcium release-activated calcium modulator 1), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Myopathy, tubular aggregate, 2 | AGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTCAATTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTGATTTTATTTTTTTTAGAGACAAGGTCTTGCTCTGGTGCCCAGACTGGAGGGCCATGGGGCA... | AGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCACCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGTGCCACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAGGTGATCCACCCGCCTCAATTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTGATTTTATTTTTTTTAGAGACAAGGTCTTGCTCTGGTGCCCAGACTGGAGGGCCATGGGGCA... |
Task1_train_18882 | Gene SETD1B (SET domain containing 1B, histone lysine methyltransferase), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual developmental disorder with seizures and language delay | TTTTTTTTTTTTTTTTTTTTCGGAGATGGAGTCTCACTCTGTCACCCTGGCTGGAGTGCAATGGCGTGATCTCAGCCCTCTGCAGCCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTGTCCTAAGTAGCTGGGACTATAGGCACCCACTACCATGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCTTCAGCCTACCAAAGTGCTGGGATTACAGATGTGAGCCACTATGCCTGGTCTCTTTTTTCCTTTTTA... | TTTTTTTTTTTTTTTTTTTTCGGAGATGGAGTCTCACTCTGTCACCCTGGCTGGAGTGCAATGGCGTGATCTCAGCCCTCTGCAGCCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGTGTCCTAAGTAGCTGGGACTATAGGCACCCACTACCATGCCTGGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCTTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCTTCAGCCTACCAAAGTGCTGGGATTACAGATGTGAGCCACTATGCCTGGTCTCTTTTTTCCTTTTTA... |
Task1_train_18883 | A mutation on Chromosome 12 affecting SETD1B (SET domain containing 1B, histone lysine methyltransferase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | ACTCCTGCTCCTGCCGGGCCAGCCACAGACCCCCGTCTTCCCCAGCACCCATGACCCCCGGACGGTGACCCTGGACTTCCGGAACGCGGGGATCCCAGCCCCTCCACCACCCCTTCCCCCCCAGCCACCCCCACCCCCACCTCCCCCACCTGTAGAGCCCACCAAGCTGCCCTTTAAGGAGCTAGACAACCAGTGGCCCTCCGAGGCCATTCCTCCGGGCCCCCGTGGGCGCGATGAGGTCACTGAGGAATACATGGAGTTGGCCAAGAGCCGGGGGCCGTGGCGCCGGCCACCTAAGAAGCGCCATGAGGACCTGGTGC... | ACTCCTGCTCCTGCCGGGCCAGCCACAGACCCCCGTCTTCCCCAGCACCCATGACCCCCGGACGGTGACCCTGGACTTCCGGAACGCGGGGATCCCAGCCCCTCCACCACCCCTTCCCCCCCAGCCACCCCCACCCCCACCTCCCCCACCTGTAGAGCCCACCAAGCTGCCCTTTAAGGAGCTAGACAACCAGTGGCCCTCCGAGGCCATTCCTCCGGGCCCCCGTGGGCGCGATGAGGTCACTGAGGAATACATGGAGTTGGCCAAGAGCCGGGGGCCGTGGCGCCGGCCACCTAAGAAGCGCCATGAGGACCTGGTGC... |
Task1_train_18884 | Gene SETD1B (SET domain containing 1B, histone lysine methyltransferase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Intellectual developmental disorder with seizures and language delay | GGGCGGGGCCTAGGAGAAGGAAGGAGTTTGCCTTAGTCCCATGGGCCCTGGAGCACCTCCAAAGGGTTTAATTAGGGATGTGACGGAGCTGTATTTCCGCAAGTTCATTCATTTTTTGTTTTTTGCTTGGGTTTTTTTTTTAGGGGGGGACAAAGCCTTGCTCTGTCACATAGGCTGAAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGG... | GGGCGGGGCCTAGGAGAAGGAAGGAGTTTGCCTTAGTCCCATGGGCCCTGGAGCACCTCCAAAGGGTTTAATTAGGGATGTGACGGAGCTGTATTTCCGCAAGTTCATTCATTTTTTGTTTTTTGCTTGGGTTTTTTTTTTAGGGGGGGACAAAGCCTTGCTCTGTCACATAGGCTGAAGTGCAGTGGCACAGTCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGG... |
Task1_train_18885 | Gene SETD1B (SET domain containing 1B, histone lysine methyltransferase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | CTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTAATTCGCCTGCCTTGGTCTCCCAAACTGCTGGGATTATAAGCATAAGCCACATCGCATGGCCTCATTCATTCTTTTTTTAATCCAGTAAATATCTGTTGAGTACATGCTGTGTACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAA... | CTGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTAATTCGCCTGCCTTGGTCTCCCAAACTGCTGGGATTATAAGCATAAGCCACATCGCATGGCCTCATTCATTCTTTTTTTAATCCAGTAAATATCTGTTGAGTACATGCTGTGTACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAA... |
Task1_train_18886 | A mutation found in SETD1B (SET domain containing 1B, histone lysine methyltransferase) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Intellectual developmental disorder with seizures and language delay | ACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAAAAAAATTGAGACGGGGTCTCACTCTGTAGCCCAAGCTGATCTGGAACTCCTGGGCTCAAGCGATCCTCCCGTCTCAGCCTCCCAAAGTGTTGAGATTATAGGTGTGAGCCACGGTACCCAGCTGGAATTTATATTTTAATGGGGACTCATAGGAAATAATCAAGTGAAGAAAGAAGCACGTAATTCCAGGCAGGGAAAATGCGATGGAGAAAACAGGAGAGGGGTTAGG... | ACCGGGCACTGTTCTGGGTCTATAGCAGTGAACAAAACCAAATCCTATTCCTCGTGGAATTTAATTATTTATTTTTATTTTTAAATTAAAAAAAAATTGAGACGGGGTCTCACTCTGTAGCCCAAGCTGATCTGGAACTCCTGGGCTCAAGCGATCCTCCCGTCTCAGCCTCCCAAAGTGTTGAGATTATAGGTGTGAGCCACGGTACCCAGCTGGAATTTATATTTTAATGGGGACTCATAGGAAATAATCAAGTGAAGAAAGAAGCACGTAATTCCAGGCAGGGAAAATGCGATGGAGAAAACAGGAGAGGGGTTAGG... |
Task1_train_18887 | Given this variant in gene SETD1B (SET domain containing 1B, histone lysine methyltransferase) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Intellectual developmental disorder with seizures and language delay | CAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTAGAACTTTCTGCAAGGGGGAGGTG... | CAGGAGGGCCTGGAAGCCCCGGCACGGGAATCAGCTCGGCCTCCTTCCCAAGCTCAGGTTGGCCAAGGGTTATAGGGAGAGGAGGACATGTGAGGTCTTTTACCAGGAGCTCTACTCCTCTGAGCCTCAGTTTCTCATCTGTCAAATGGGCATAGTGAGACTTCTGTGGCATTTAGAGGACTCAAAGAAGTGGTTGGTTCAGTTCATTGGTAATTTCGGAGTTATTTCTCTGCGTTAGCCTTTTCTCCGTGCCTTCATTGGTCAGGCTCAGTCCTGCTCGGGCCGAGCTGTCCACTAGAACTTTCTGCAAGGGGGAGGTG... |
Task1_train_18888 | A variant was discovered in gene HPD (4-hydroxyphenylpyruvate dioxygenase), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hawkinsinuria | ACCACTGCACTCCAGCCTAGAAGACAGAGCAAGACTGCATCTCAAAAAAGAAGGATATATATATATATACACACACATATATATATTTGAGAGACAGGGTCTTTGTTCTGTCACCCAGGCTGCAGTGCAGTGGCATGATCTTAGCTCACTGCAGCCTCAACCTCCCCAGGCTCAGCTGATCCTCCTACTTCAGACTTCTGGGTAACTAGAACCACAGGTGTGCACCACCACACCTGGCTAATTTTTTGATTTTTTTGTAAAGATGAGGTCTTATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG... | ACCACTGCACTCCAGCCTAGAAGACAGAGCAAGACTGCATCTCAAAAAAGAAGGATATATATATATATACACACACATATATATATTTGAGAGACAGGGTCTTTGTTCTGTCACCCAGGCTGCAGTGCAGTGGCATGATCTTAGCTCACTGCAGCCTCAACCTCCCCAGGCTCAGCTGATCCTCCTACTTCAGACTTCTGGGTAACTAGAACCACAGGTGTGCACCACCACACCTGGCTAATTTTTTGATTTTTTTGTAAAGATGAGGTCTTATGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGG... |
Task1_train_18889 | Here is a mutation in DIABLO (diablo IAP-binding mitochondrial protein) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GCTTGAGGTGCAGTGGAGCCATCTAGGCTCACTGCAGCCTCCACCCCCTGGGTTCAAGCCATTCTCCTGCACAGGCGTGTGCCACTACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGGTGGCCAGGGTAGTGTCAAACTCTTGACCTCAAGTGACCCACCTCAAGTGATCCGCCCTCCTTGGCCCCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCAACCAGTTTCTTAATAAGAACTAGTACTAAGCTATAACTTTGGTGAGCCGGCTGGGTGCGGTGGCTCGCACCTGTAATCCCAG... | GCTTGAGGTGCAGTGGAGCCATCTAGGCTCACTGCAGCCTCCACCCCCTGGGTTCAAGCCATTCTCCTGCACAGGCGTGTGCCACTACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGGTGGCCAGGGTAGTGTCAAACTCTTGACCTCAAGTGACCCACCTCAAGTGATCCGCCCTCCTTGGCCCCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCAACCAGTTTCTTAATAAGAACTAGTACTAAGCTATAACTTTGGTGAGCCGGCTGGGTGCGGTGGCTCGCACCTGTAATCCCAG... |
Task1_train_18890 | Chromosome 12 houses a mutation in gene VPS33A (VPS33A core subunit of CORVET and HOPS complexes). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Mucopolysaccharidosis-plus syndrome | CAGTCTCCTGCAGGAGTAGCAGCAGCTGTGGCTGCTGGTCTCCAAGATCATCAAGAGATACACCTGGAGAAGGCTGAGGTCACCAGAGAGGGGGCTGAAACAGTGTTTTCAGCTGAGTACGGAGTGGCCACAGACTGCTAGAAAAGTACACGTGGCAGTTACCATGGAAACGAAGTGGCCAGATGCTGAAGAAGCAAGAGTTGCCCCTGCTCACTGTGGGACCAGTTGGATGTTGGGCCCTTGATGGACAGAAGAGAAAACGGAAACCTCAATGGAGGCACCCACCACTGCTGTGTCTGGAGTTAACGTGTGTGCTAAGA... | CAGTCTCCTGCAGGAGTAGCAGCAGCTGTGGCTGCTGGTCTCCAAGATCATCAAGAGATACACCTGGAGAAGGCTGAGGTCACCAGAGAGGGGGCTGAAACAGTGTTTTCAGCTGAGTACGGAGTGGCCACAGACTGCTAGAAAAGTACACGTGGCAGTTACCATGGAAACGAAGTGGCCAGATGCTGAAGAAGCAAGAGTTGCCCCTGCTCACTGTGGGACCAGTTGGATGTTGGGCCCTTGATGGACAGAAGAGAAAACGGAAACCTCAATGGAGGCACCCACCACTGCTGTGTCTGGAGTTAACGTGTGTGCTAAGA... |
Task1_train_18891 | Given this variant in gene ZCCHC8 (zinc finger CCHC-type containing 8) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TTCTTTAATTAAAAAAAAAAAGGAAACACTTAAGGTGACTTCTCTAACTTAAGATACTATACCTTTTCCATCATAGAGTGCAAGCCCCGAATTCTCCAATTCAGCCTCTTTGAGCCACCCTGGTGGGTACCCTAGCTGGCGCATCCGATAGATAAAAGGTGGAAGACTCTTGTCTGTCACACCTAGTGCATCTTGAAGTTCCTCACTAAGTAAAAATAAAGGAGGAAGAAAAATACTGAATTCTTATTTGCATGAAAACACATAGTATTCTGGTATTTTAAAACATTTCTTGCTTATATTACATACCATGACGTCTAACA... | TTCTTTAATTAAAAAAAAAAAGGAAACACTTAAGGTGACTTCTCTAACTTAAGATACTATACCTTTTCCATCATAGAGTGCAAGCCCCGAATTCTCCAATTCAGCCTCTTTGAGCCACCCTGGTGGGTACCCTAGCTGGCGCATCCGATAGATAAAAGGTGGAAGACTCTTGTCTGTCACACCTAGTGCATCTTGAAGTTCCTCACTAAGTAAAAATAAAGGAGGAAGAAAAATACTGAATTCTTATTTGCATGAAAACACATAGTATTCTGGTATTTTAAAACATTTCTTGCTTATATTACATACCATGACGTCTAACA... |
Task1_train_18892 | A variant on Chromosome 12 in gene EIF2B1, LOC126861664 (eukaryotic translation initiation factor 2B subunit alpha| CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124105924-124107123) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Vanishing white matter disease | GGAATTGTGTGGGGCTGTCAGATTTCTGTTACGTTGGCGACCAGGGTGGGGAATTTGCTCTATTTGCAGAAGCCAATCTGAGAGCTTATAGTTCTTGAGTTAAAACTGCTGGTTTCACTACAACACTATTGCTGAAAAATTTAGTAGTTTATTGGTTTCTTCTGCACTTAGGGTTCTGATATTGAAGATGAGGACATGGAAGAACTTCTTAATGACACAAGACTCTTGAAAAAACTTAAGAAAGGCAAAATAACTGAAGAAGAATTTGAGAAGGGCTTGTTGACAACTGGCAAAAGAACAATCAAGACAGTGGATTTAGG... | GGAATTGTGTGGGGCTGTCAGATTTCTGTTACGTTGGCGACCAGGGTGGGGAATTTGCTCTATTTGCAGAAGCCAATCTGAGAGCTTATAGTTCTTGAGTTAAAACTGCTGGTTTCACTACAACACTATTGCTGAAAAATTTAGTAGTTTATTGGTTTCTTCTGCACTTAGGGTTCTGATATTGAAGATGAGGACATGGAAGAACTTCTTAATGACACAAGACTCTTGAAAAAACTTAAGAAAGGCAAAATAACTGAAGAAGAATTTGAGAAGGGCTTGTTGACAACTGGCAAAAGAACAATCAAGACAGTGGATTTAGG... |
Task1_train_18893 | A variant was discovered on Chromosome 12, affecting EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Vanishing white matter disease | ATAAGCTCTTTTTTCTGAGGCTATTTTATAGTTATTTTTAAACATAAAGATACAGAAGTCTTCTTGACTTCTGATTTTCAAAACCATTCCTCAGTATCTTCAGGCATTTGACCTCCTGAATGTGCTTGGCCCTGGGCTTCAGTTATCCTTTGATGTCCTGCAGGGGTGGCTAATGTGCTGGGGTTTTTCTGTGTTAATAGTCACAGTATTGTTTTATTGGTGAATAGCTGAAAAACAGAGGGATTAAGTCATATTCCGGGAAAGAGAATTATAGTTTTTATGCCTCCTGTTGAATAAATGGTGTCCTGATTGCCTGGGTC... | ATAAGCTCTTTTTTCTGAGGCTATTTTATAGTTATTTTTAAACATAAAGATACAGAAGTCTTCTTGACTTCTGATTTTCAAAACCATTCCTCAGTATCTTCAGGCATTTGACCTCCTGAATGTGCTTGGCCCTGGGCTTCAGTTATCCTTTGATGTCCTGCAGGGGTGGCTAATGTGCTGGGGTTTTTCTGTGTTAATAGTCACAGTATTGTTTTATTGGTGAATAGCTGAAAAACAGAGGGATTAAGTCATATTCCGGGAAAGAGAATTATAGTTTTTATGCCTCCTGTTGAATAAATGGTGTCCTGATTGCCTGGGTC... |
Task1_train_18894 | This variant affects the gene EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Vanishing white matter disease | CCTGGGCAGCTGGAACTACAGGCAAGCACCACCACGCCCAGCTAATTTTTCTAATTTTTTGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCAAGGCCTCAAGTGATCCTCCCACCCTGGCCTCTCAAATTGCTAGGATTACAGGTATAAGGCATCACACCTGACCAAATTACATTGTCTTCATTTATGTAGATCAATCTAAAAAAGATTTGACTGAAACTGGACTGCCCATTGCTATGACTTACGGGAAATGGGCAACAACTCAATACCATGATGAAGTCCTGAAGTGAAGCAGGATTAGAAGGAA... | CCTGGGCAGCTGGAACTACAGGCAAGCACCACCACGCCCAGCTAATTTTTCTAATTTTTTGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCAAGGCCTCAAGTGATCCTCCCACCCTGGCCTCTCAAATTGCTAGGATTACAGGTATAAGGCATCACACCTGACCAAATTACATTGTCTTCATTTATGTAGATCAATCTAAAAAAGATTTGACTGAAACTGGACTGCCCATTGCTATGACTTACGGGAAATGGGCAACAACTCAATACCATGATGAAGTCCTGAAGTGAAGCAGGATTAGAAGGAA... |
Task1_train_18895 | This gene mutation involves EIF2B1 (eukaryotic translation initiation factor 2B subunit alpha) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Vanishing white matter disease | CCTCCCACCTCAGCCACCCCAGTAGCTGGGACTACAGATGTGCGCCACTGTGACTAGCTAATTTATTTTATTTTTTGTAGAGACAGGGCCTCTCTCCCTATGTTGCTCAGGCTAGTGTTGAATTCCTGGCCTCAAGGGAACCTCCGGCTAGGATTATACACATAAGCCACCACAGTAGGCCCATAACCTCTTTTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGGATCTCACTCCAATTGCCCAGGCTGAAGTGCAGTGGTATGATCTCAGCTCACTGCAGCCTCAACTTCCTGGGTTCAGGTGATTCTCCCACCTGAG... | CCTCCCACCTCAGCCACCCCAGTAGCTGGGACTACAGATGTGCGCCACTGTGACTAGCTAATTTATTTTATTTTTTGTAGAGACAGGGCCTCTCTCCCTATGTTGCTCAGGCTAGTGTTGAATTCCTGGCCTCAAGGGAACCTCCGGCTAGGATTATACACATAAGCCACCACAGTAGGCCCATAACCTCTTTTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGGATCTCACTCCAATTGCCCAGGCTGAAGTGCAGTGGTATGATCTCAGCTCACTGCAGCCTCAACTTCCTGGGTTCAGGTGATTCTCCCACCTGAG... |
Task1_train_18896 | Assess the clinical impact of this variant on gene DHX37 (DEAH-box helicase 37), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | AATTGGCCGGGCGCCGTGGCTAATGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCCGGTCAACATGGTGAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTGGAATCCTGGAAGCGGAGGTTGCAGTGAGCTGAGATTGAACCATTGCATTCTAGCCCAGGCCGACAACAGTGAGACTCAGTCTCAAAAACAAAACAAACAAACAAACAAACAAATT... | AATTGGCCGGGCGCCGTGGCTAATGCCTGCAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCCGGTCAACATGGTGAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTGGAATCCTGGAAGCGGAGGTTGCAGTGAGCTGAGATTGAACCATTGCATTCTAGCCCAGGCCGACAACAGTGAGACTCAGTCTCAAAAACAAAACAAACAAACAAACAAACAAATT... |
Task1_train_18897 | Assess the clinical impact of this variant on gene DHX37 (DEAH-box helicase 37), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; 46,XY sex reversal 11 | GTCAAATGGGGCAGCTGCTGTGGAAAACAGTTTGGTGGCTCCTCGGTAAGTTAAACCCAGAGTTACCATACGGCCCAGCGGTTCTCTTAGGTTCCACTGCAAGAGCAATGAAACCGGAGCCAGACAAATCCTTGCACCTGAGTGTTCAGAGCAGCACTATCCACAATAGCCAAGAGGTGAAAACAACCAAACGTCCACCAGCTGATGAACAGACAAACAAAACTCGGCACATCCATATGGTGTGATATCATTCAGCCACGGCCAGGAACGGGGTGCTGACACCTGCCACCCGGGGTGAGCCTTGAAAACTCACCGTGCTG... | GTCAAATGGGGCAGCTGCTGTGGAAAACAGTTTGGTGGCTCCTCGGTAAGTTAAACCCAGAGTTACCATACGGCCCAGCGGTTCTCTTAGGTTCCACTGCAAGAGCAATGAAACCGGAGCCAGACAAATCCTTGCACCTGAGTGTTCAGAGCAGCACTATCCACAATAGCCAAGAGGTGAAAACAACCAAACGTCCACCAGCTGATGAACAGACAAACAAAACTCGGCACATCCATATGGTGTGATATCATTCAGCCACGGCCAGGAACGGGGTGCTGACACCTGCCACCCGGGGTGAGCCTTGAAAACTCACCGTGCTG... |
Task1_train_18898 | Gene DHX37 (DEAH-box helicase 37) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; DHX37-related disorder | TCTTATCTCTCAGATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGAT... | TCTTATCTCTCAGATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGAT... |
Task1_train_18899 | Consider a variant on Chromosome 12 in gene DHX37 (DEAH-box helicase 37). Determine its clinical classification and disease relevance. | Pathogenic; 46,XY sex reversal 11 | TCTTATCTCTCAGATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGAT... | TCTTATCTCTCAGATCTGTACAGCAAAATATTGAGGATAAAATAAGATACCTAAGATTTGCTTCTAAACAGTGGGGGGGAGGGGGGCCAGGAGGAGAGTACAGATCCAACAGGCTAGGGCAAGAGTTGACAATTATTACAACTGGGTCTTGGGTACCTGGGGGCTCATTATACTATCCTTTCTACTTATGTATATGCGCCCCCCCCAACGCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTGTTGCCCAGGCTGAAGTGCAATGGCGTGATCTCGGCTCATGGCAACCTCCGCCTCTCGGGTTCAAGGGAT... |
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