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_21600 | This sequence variant lies in MTFMT (mitochondrial methionyl-tRNA formyltransferase) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Combined oxidative phosphorylation defect type 15 | GCATGCCTATAGTCCTAGTTGCTCAGGAGGCTGAGGCAGCAGGATTGCTTGATCCCTGGAGTTTGAGACCAGCCTGGGCAACACAGCTAGCCCCTATCTCTTAAAAAAAATAAATAAAGATAGTTTATCACTGGCTATTAATTTGGCTGTTAGACATTAGCAAGGAAGATATGTCAGTTTGAAAGACGGGAGAACAAAATATGGCCTGTGTTTAGAGTCTAAATTTATTTTTCCCTAAAGCAAAGAAACGATACAGTTGCATATCAGGAATTTAATTACAATTACAGAAAAATTATATCATTAGTAATAGCATGAAAAAA... | GCATGCCTATAGTCCTAGTTGCTCAGGAGGCTGAGGCAGCAGGATTGCTTGATCCCTGGAGTTTGAGACCAGCCTGGGCAACACAGCTAGCCCCTATCTCTTAAAAAAAATAAATAAAGATAGTTTATCACTGGCTATTAATTTGGCTGTTAGACATTAGCAAGGAAGATATGTCAGTTTGAAAGACGGGAGAACAAAATATGGCCTGTGTTTAGAGTCTAAATTTATTTTTCCCTAAAGCAAAGAAACGATACAGTTGCATATCAGGAATTTAATTACAATTACAGAAAAATTATATCATTAGTAATAGCATGAAAAAA... |
Task1_train_21601 | This sequence variant lies in KBTBD13 (kelch repeat and BTB domain containing 13) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Nemaline myopathy 6 | GTGAGTGCACCAGTCGACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTC... | GTGAGTGCACCAGTCGACACTCTGTATCTAGCTGCTCTGGTGGGGCCTTGGAGAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTC... |
Task1_train_21602 | Here’s a variant in KBTBD13 (kelch repeat and BTB domain containing 13) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Nemaline myopathy 6 | GAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTTGGGTCCACACTGCTTTTATGAGCTGTAACACTCACCGTGAAAGTCTGC... | GAACCTGTATGTGGAAACTCTGTATCTAACTAATCTGATGGGGACGTGGAGAACTTTTGTATCTAGCTCAGGGATTGTAAACCCACCAATCAGCGCCCTGTCAAAACAGGCCACTTGGCTCTACCAATCAGCAGGATGTGAGTGGGGCCAGATAAGAGAATAAACGCAGGCTACCCGAGCCAGCAGTGGCAACCCGCTCATATCCCCTTCCACACTGTGGACGCTTTATTCTTTTCCTCTTTGCAATAAATCTTGCTGCTGCTCACTCTTTTGGGTCCACACTGCTTTTATGAGCTGTAACACTCACCGTGAAAGTCTGC... |
Task1_train_21603 | Here’s a variant in MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; RASopathy | TCAGGCAGCTGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGA... | TCAGGCAGCTGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGA... |
Task1_train_21604 | Here is a variant affecting MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; RASopathy | TGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAG... | TGTAACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAG... |
Task1_train_21605 | Consider this mutation in MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; RASopathy | AACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGC... | AACCTCACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGC... |
Task1_train_21606 | This gene mutation involves MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Non-small cell lung carcinoma | ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTG... | ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTG... |
Task1_train_21607 | This variant affects gene MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Extracranial arteriovenous malformation | ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTG... | ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTG... |
Task1_train_21608 | The gene MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neoplasm | ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTG... | ACTCAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTG... |
Task1_train_21609 | The gene MAP2K1 (mitogen-activated protein kinase kinase 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCA... | CAGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCA... |
Task1_train_21610 | Here’s a variant in MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Vascular malformation | AGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAG... | AGGTTTTAGCTGTGGGGTCCATCTACATTTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAG... |
Task1_train_21611 | This variant lies on Chromosome 15 and affects the gene MAP2K1 (mitogen-activated protein kinase kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cardio-facio-cutaneous syndrome | TTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCT... | TTGACATGTGTTTCTAAATGTGGTCCTCAGTAAGCTCCTTTGTGGGGAGACCTTGGAGAAAGGAAACCAGAGAGTGTGCACTGTGCACCCCCAGCCACACATGTTCTGGGTTCCCACACCTTAGGGACTGGGGACACTGCAAGACATAGCCGAACCTTGGATGAAAATATTGAGTAGCTGCCTCAGTTTGCTTGGACTGCTATGATAACATATCATAGACTAAGTAGCTTAGACAACAATAGTTTATTTTCCCACTGTTCTGGAGGCTGAAAGTCTAAGAGCAGGGTGCCAGCATGGTTGGGTTTTGGCAAGAGCCCTCT... |
Task1_train_21612 | This variant affects the gene MAP2K1 (mitogen-activated protein kinase kinase 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; RASopathy | TGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACC... | TGGCTCATTCTGGATTTTAGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACC... |
Task1_train_21613 | Gene MAP2K1 (mitogen-activated protein kinase kinase 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; RASopathy | AGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAG... | AGTAGGTTCTTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAG... |
Task1_train_21614 | The gene MAP2K1 (mitogen-activated protein kinase kinase 1), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; RASopathy | TTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTG... | TTTTGTTCCTCTCATTGACTTGCAGCATACTGAGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTG... |
Task1_train_21615 | A genomic change on Chromosome 15 affects MAP2K1 (mitogen-activated protein kinase kinase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; RASopathy | AGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAA... | AGTGAGAAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAA... |
Task1_train_21616 | Here is a variant affecting MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; RASopathy | AAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCT... | AAAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCT... |
Task1_train_21617 | An alteration has been detected in MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | AAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTT... | AAGACCTAATTTTTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTT... |
Task1_train_21618 | A change on Chromosome 15 affects gene MAP2K1 (mitogen-activated protein kinase kinase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cardiofaciocutaneous syndrome 3 | TTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTT... | TTTCACTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTT... |
Task1_train_21619 | A genetic alteration is present in MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cardiofaciocutaneous syndrome 3 | CTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCA... | CTTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCA... |
Task1_train_21620 | The gene MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cardio-facio-cutaneous syndrome | TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAG... | TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAG... |
Task1_train_21621 | This variant affects gene MAP2K1 (mitogen-activated protein kinase kinase 1) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Neoplasm | TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAG... | TTTATAAATGAGGAAATTGAAGCCCTGAGAGGTAAAGCATGTTGGTGATAGTCATCCCGGGTGGCTGGAGTGAAGTGGGCAGAGCCACAGTGGGAGGGGGCCTCCTCTCTAGCCTCCCACTTTGATTATCTGTCTGGCCCCAGACCTGGAGCTTTCTTTCCATGATAGGAGTACTTCTTTGGGTTGACTTCTCTGGTGACAGTATTGACTTGTGCTCCCCACTTTGGAACAGGACCAACTTGGAGGCCTTGCAGAAGAAGCTGGAGGAGCTAGAGCTTGATGAGCAGCAGCGAAAGCGCCTTGAGGCCTTTCTTACCCAG... |
Task1_train_21622 | Assess the clinical impact of this variant on gene MAP2K1 (mitogen-activated protein kinase kinase 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cardiofaciocutaneous syndrome 3 | GCAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCT... | GCAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCT... |
Task1_train_21623 | Here is a variant affecting MAP2K1 (mitogen-activated protein kinase kinase 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; RASopathy | CAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCTA... | CAGACAGCCAACGTCCTGCCCTCCTGCAGCTGATTGGGGCAGAGAGAGGCTAGAGCTGGCCTGGAATGGTGATTACCCCCAGGCTGAAGATGAAGAGGGGCCAAGTGGAGTTGGGGCACTGGGATATTAGAGGGTCATGATTTTTTTTTATTATTTTTATTTTTATTTATTTTTTTGAGGCAGAGTTTCACTCTTGTTGCCCAGACTGGAGTGCAATGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACGCTA... |
Task1_train_21624 | Gene SMAD6 (SMAD family member 6), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Radioulnar synostosis | GCTACCCCAACATATCCGCCGCCCCCTGCTCCTCAGAGGCTCAACCCTGGAAGGCACACATGCACACCCATTTTTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCG... | GCTACCCCAACATATCCGCCGCCCCCTGCTCCTCAGAGGCTCAACCCTGGAAGGCACACATGCACACCCATTTTTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCG... |
Task1_train_21625 | Here is a variant affecting SMAD6 (SMAD family member 6) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Craniosynostosis 7 | TTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGG... | TTATTAGCCTACCCTAGGATGGGGGTTTGGAACAACTTTAAAGTGCAAAGTGTGTTTGTAAGTTTGTGCACAAGCCAGGGAGAGGCAAAGCGCCCCGTTTGCGTCCGAGTCTCAGTGGGTCCGCCGAGCCTTGCGCGCCTGCTCGTGGCTCGTGTAACCCTGTGTGTGTGTGTGTGTGTGTCCGCGCGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGG... |
Task1_train_21626 | This genomic variant is located on Chromosome 15, within the SMAD6 (SMAD family member 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Aortic valve disease 1 | CGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAG... | CGCGCGTGTGTGCTCGCTCGCATCCGTGCTCTGGGCGCAACGCGAGGCAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAG... |
Task1_train_21627 | This variant affects the gene SMAD6 (SMAD family member 6) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Aortic valve disease 2 | CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGA... | CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGA... |
Task1_train_21628 | A variant has been detected on Chromosome 15 in SMAD6 (SMAD family member 6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGA... | CAGAAAGCGGGCCGCGGGCGCTGTCAGGCCCTGGGCGGGGGTGCCGGGGTGGTGTGGGGCGGGGGCCCGAGCTCGGCCCGCCCCGGGAGCCGGCCCCTTGGAGCCTCCGGCCCTGCAATGGGACGTGTTCTCCTTTAAGAGTTAAGAAACTTGAAACCTTGTTTGCGCAACAATCAGCGCCGCGGAGCCGCCAAAGTGTCTAGACTGGCATATGATGGGAGGCAGCCAATGACTCCGCGGCGCTCCTCCGGGGGCCCTCAGTGTGCGTTTGAGGAGAACAAAAAAGAGAGAGAGAGCCGAGCGGGGGAGCGATCGAGGGA... |
Task1_train_21629 | This genomic variant is located on Chromosome 15, within the SMAD6 (SMAD family member 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Aortic valve disease 2 | GGGGCACACTCATGAAACCTGTATCCAGCCCAAAGCCACAGCAGAGCAGTCAGCCTCCAGGAGGCCCCTGAGGCAGACAGCCTCCTGCTGGGTGGCTGGGCGGGCCTCCCAGTGTGTAAGGGGATGTCAGGGGCCCTGCCACCCTGTTCTTCTGGGGCTTCTAGGCAGGGGCAAGACCAAGGCAAAGGCGTCCAGAGCTGGCCTCACTCAGGCTCCCAGGTGAAGCTGTTAGAAGTGTTGTCCTCTGGGATTTGGTTGGACTTTGATCAGTTTTCCTCAGAAAAAGAGCCATGAATTGCTTTGCTTTGCTCTGTCAAGCC... | GGGGCACACTCATGAAACCTGTATCCAGCCCAAAGCCACAGCAGAGCAGTCAGCCTCCAGGAGGCCCCTGAGGCAGACAGCCTCCTGCTGGGTGGCTGGGCGGGCCTCCCAGTGTGTAAGGGGATGTCAGGGGCCCTGCCACCCTGTTCTTCTGGGGCTTCTAGGCAGGGGCAAGACCAAGGCAAAGGCGTCCAGAGCTGGCCTCACTCAGGCTCCCAGGTGAAGCTGTTAGAAGTGTTGTCCTCTGGGATTTGGTTGGACTTTGATCAGTTTTCCTCAGAAAAAGAGCCATGAATTGCTTTGCTTTGCTCTGTCAAGCC... |
Task1_train_21630 | The gene LOC130057352, SMAD3 (ATAC-STARR-seq lymphoblastoid silent region 6574| SMAD family member 3) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Aortic aneurysm | ACGGGAAGAGGAGAGTGAAACCTAAGACCACAGCGGCAGCGCGTTAACAGGAGGACCAGCAAGGAACGGAAGCCAGGTTGTCAAGCCTCAGTTGGCTTTCACGTATTCTCCTTTTCAGGCGGGTATTTAGGAAGAGAGGAGGGTGAGGAGCACAGCGCACTTCTGCAGCAGCAGCTGCGGATTGGCTTGTGGGAGGCGGTTCTCCGGAGCAAGGCAAGGGCCCCTGCCGCTTCTGGGCTGACTGTGGATTCCGCCACACCTCACAGGGCTTTGTAACTCCCCACCCACTTGAGGGTTCCAGATAACTTTTTTTTTTTAAC... | ACGGGAAGAGGAGAGTGAAACCTAAGACCACAGCGGCAGCGCGTTAACAGGAGGACCAGCAAGGAACGGAAGCCAGGTTGTCAAGCCTCAGTTGGCTTTCACGTATTCTCCTTTTCAGGCGGGTATTTAGGAAGAGAGGAGGGTGAGGAGCACAGCGCACTTCTGCAGCAGCAGCTGCGGATTGGCTTGTGGGAGGCGGTTCTCCGGAGCAAGGCAAGGGCCCCTGCCGCTTCTGGGCTGACTGTGGATTCCGCCACACCTCACAGGGCTTTGTAACTCCCCACCCACTTGAGGGTTCCAGATAACTTTTTTTTTTTAAC... |
Task1_train_21631 | Consider this mutation in SMAD3 (SMAD family member 3) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Aneurysm-osteoarthritis syndrome | TTGCCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGA... | TTGCCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGA... |
Task1_train_21632 | An alteration has been detected in SMAD3 (SMAD family member 3) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACAC... | CCACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACAC... |
Task1_train_21633 | A variant has been detected on Chromosome 15 in SMAD3 (SMAD family member 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | ACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTC... | ACAACTTGAGAGGGTGTTATGGATGTATACTACTAGCACCTAGTGGGTAGGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTC... |
Task1_train_21634 | This genomic variant is located on Chromosome 15, within the SMAD3 (SMAD family member 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Aneurysm-osteoarthritis syndrome | GGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTG... | GGGGCCAGGATGCTGCTAAACATCCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTG... |
Task1_train_21635 | The gene SMAD3 (SMAD family member 3), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACA... | CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACA... |
Task1_train_21636 | This sequence change occurs on Chromosome 15, altering SMAD3 (SMAD family member 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Aneurysm-osteoarthritis syndrome | CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACA... | CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACA... |
Task1_train_21637 | Chromosome 15 houses a mutation in gene SMAD3 (SMAD family member 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ehlers-Danlos syndrome | CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACA... | CCTGCAATCTGCAGATCCTCCCTCCCACCCATCCACCCACCCAACAAAGAATTATCTGGCCCCAGATGTCAGTAGTGCTGAAGTTGAAAAACCTGACCTAGGGTGTCCTAATCCTCCAGCTGACACTTCCTGGGTGTGTGTGGAGTGCAGGGGTGTTACTGGCCTGCCCCTTCGCCATTCGTGATAGTGTTCTCCTTGCTCTTAGAAAGGATCATGCACCTAGACTCCAAAAGGGGATTGGGACACTCTGTCCTGCAGGGGCAACCAGACCCCTTCCAGTGGGCAGAACAGCTTCTGACTTTTCTCTCTTGGGCTTTACA... |
Task1_train_21638 | Here is a genetic alteration in SMAD3 (SMAD family member 3) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GTCTGCTTGGTTGAATCTCTCAGGCCATCCTGCTTTGGGTTTAGAGAATCCAGTCCCTTTTCTTTCCACTCACGGACCAAAGTTTGCGGAGAGGCAGGGCTGTGTGCCCCCGCCTTCTGCTCCACACTCCCCCCTGCCAGCCGCCAGCTCCTGCGGCAGATGCAGAGGTGCCCACATGTCAGCTAGAGCCAGCGCCTTGCAAGCTACTCTCCCTTTCTCTTCATTTTTCCAGATGTTTGGAATCCATTTTGTTTTGCAGTCATGCTGCACTCAGGCCAAACCCATTTCAATATTGGCCTTGGGCCACCGTTTGTAATGAA... | GTCTGCTTGGTTGAATCTCTCAGGCCATCCTGCTTTGGGTTTAGAGAATCCAGTCCCTTTTCTTTCCACTCACGGACCAAAGTTTGCGGAGAGGCAGGGCTGTGTGCCCCCGCCTTCTGCTCCACACTCCCCCCTGCCAGCCGCCAGCTCCTGCGGCAGATGCAGAGGTGCCCACATGTCAGCTAGAGCCAGCGCCTTGCAAGCTACTCTCCCTTTCTCTTCATTTTTCCAGATGTTTGGAATCCATTTTGTTTTGCAGTCATGCTGCACTCAGGCCAAACCCATTTCAATATTGGCCTTGGGCCACCGTTTGTAATGAA... |
Task1_train_21639 | A variant was discovered in gene CLN6 (CLN6 transmembrane ER protein), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | TGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGTGTCTGGGGGGTTGTCTGTCTCATGCACCGCAGACACCAGCAGCCCAG... | TGACAGGAAGGCCAGTGTCTTAGAGGCCTGCTCAGCGGCCCTCTTCCCCACAACCTCTGCAACCACTCCCATGGGGTCTCATGGAGTGCCACGTCACAGTTTACAAAACGCCTAGCCTGGGTGAGAGGCGCTCCTCTCCACCCAACCTTGCCTGTGCTGGGCGTCAAAGGTGGGACAGAAACAGAAACAGGAAGGCAACGCACGTGTGAGTCAGAGGCCCAGAGGCATCCACACCGCCCAGGGCACCTCACTCACTCCGTGGGGGTAAGGGGTGTCTGGGGGGTTGTCTGTCTCATGCACCGCAGACACCAGCAGCCCAG... |
Task1_train_21640 | The gene CLN6 (CLN6 transmembrane ER protein), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCT... | AAAATGTCAGGGATGGGGGCAGGTGCTTCTGAAATGCCACTGTTTAACTGAAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCT... |
Task1_train_21641 | This variant lies on Chromosome 15 and affects the gene CLN6 (CLN6 transmembrane ER protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | AAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTG... | AAAACACACCGGAGTTCTGGGATTATACCCCTCCTACTTCTGGAGATTTGAAGTATCTTTCTTCAATACAAAATGATGGTGATAGTAAATGGTGATACAGGCTGAGCATCCCTTATCTGAAATGTTTCAAATTTCAGATTTTGGAATATTTGCATATACACAATGAGATATCTTGGGAATGCATATGCAAGTCTAAACATGAAATTCATTTCTTTCATTTTTCTTTGAGACAGGGTCTCACTCTGTCACTCAGGCTGGAGTATAGTGGCTCAAGAGATCCTCCCACCTCAGCCCCCAGAGTAGCTGGAACTACAGGTGTG... |
Task1_train_21642 | This variant affects gene CLN6 (CLN6 transmembrane ER protein) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Ceroid lipofuscinosis, neuronal, 6A | ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACAT... | ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACAT... |
Task1_train_21643 | An alteration has been detected in CLN6 (CLN6 transmembrane ER protein) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neuronal ceroid lipofuscinosis | ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACAT... | ATCCTAGGAACTGGACAGGATGATTCTGCCTACTCTCTTGAGCAGCAATGATACTGGGAATGGGCTGAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACAT... |
Task1_train_21644 | The variant affects gene CLN6 (CLN6 transmembrane ER protein), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | GAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTG... | GAAGCCACATTGTGGGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTG... |
Task1_train_21645 | A variant was discovered in gene CLN6 (CLN6 transmembrane ER protein), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGA... | GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGA... |
Task1_train_21646 | This gene mutation involves CLN6 (CLN6 transmembrane ER protein) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ceroid lipofuscinosis, neuronal, 6A | GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGA... | GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGA... |
Task1_train_21647 | Gene CLN6 (CLN6 transmembrane ER protein), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neuronal ceroid lipofuscinosis | GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGA... | GGGGGCAGAGACACCCTGGGAGACAGAGAGCTCCCACCCTCACACCACCCCCCTGGGAATACCCTGGCTGGTGGGGAGCTCACACAGGGGAAGAGGGACATGACTCCTTAGCAGCCAAAGTGGAGTCGTAAGAGCAGAGCCCGTAAGTCAGAAACCCTGGGTTTAGGCCCTGGTTCTTGCCAGCAAATGATGTAACCTCTTTGGGCCTCCATTTCCCCATCTGTACATTGGAAGTGACATCTGGCAGCTCATTGTCAAGACTGAGTAAGATGCTAGACATGGGAGCCCCACACAGGAGATAAAGTGGTGACCCTATCTGA... |
Task1_train_21648 | Consider a variant on Chromosome 15 in gene KIF23 (kinesin family member 23). Determine its clinical classification and disease relevance. | Pathogenic; Congenital dyserythropoietic anemia, type III | AAATCTTAACTGAAAGCACTCAGAAGTATTTCACATTTCTTTAATCATTTTATTCATATGGTTCTTATTATACCTATGTTCTTAGGATTGTTTTCTGTTTTGTTTAGAAGCCTAGAAAATGTGTAGGGCTTTCATTGATCTTATTGAAGATTTTAACAGAGTTGTGGACATAATAGATTACCTCTCAATAGCAGGGATAAATATTGGTTTTTGATCAAGAATATGAAATGAGTTGTTTGTCCTGAACCACCCCCAAGCAGGAAAGACTTGCAGCATTACCAGAATTTTTTCTTTTATCCTTTATTGAAAGGGAAACTCCC... | AAATCTTAACTGAAAGCACTCAGAAGTATTTCACATTTCTTTAATCATTTTATTCATATGGTTCTTATTATACCTATGTTCTTAGGATTGTTTTCTGTTTTGTTTAGAAGCCTAGAAAATGTGTAGGGCTTTCATTGATCTTATTGAAGATTTTAACAGAGTTGTGGACATAATAGATTACCTCTCAATAGCAGGGATAAATATTGGTTTTTGATCAAGAATATGAAATGAGTTGTTTGTCCTGAACCACCCCCAAGCAGGAAAGACTTGCAGCATTACCAGAATTTTTTCTTTTATCCTTTATTGAAAGGGAAACTCCC... |
Task1_train_21649 | A mutation found in THSD4 (thrombospondin type 1 domain containing 4) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Aortic aneurysm, familial thoracic 12 | CTGCTGCAGGGATGGTGGCCTCTCCAAGTCACCCAGCTGTTCACATCCTACTTGAACTCTGGCTCAGGCCAAAGGCATGTGAAAAGCATCTTAGTTAACTCAAAAGCCTTCATGGAGACAGCTGGTGTTGCTGGAAGCTTACATGGGCCCAGCTTTAGGGTTGCCAGCAGGTTGGCTTCCAGAGCCCTAGGAGACAGGCTTCTGTGGCCTGTCCGCCTCTCCCTGATTGTCAGAGCTCAGCCCACCCTGCTTGTTCACCCTGCCTGTTTTTTCCTACCAGTTTCCATCATTTTCTGCTTTAGGGGGCTTCTTGCTCCATA... | CTGCTGCAGGGATGGTGGCCTCTCCAAGTCACCCAGCTGTTCACATCCTACTTGAACTCTGGCTCAGGCCAAAGGCATGTGAAAAGCATCTTAGTTAACTCAAAAGCCTTCATGGAGACAGCTGGTGTTGCTGGAAGCTTACATGGGCCCAGCTTTAGGGTTGCCAGCAGGTTGGCTTCCAGAGCCCTAGGAGACAGGCTTCTGTGGCCTGTCCGCCTCTCCCTGATTGTCAGAGCTCAGCCCACCCTGCTTGTTCACCCTGCCTGTTTTTTCCTACCAGTTTCCATCATTTTCTGCTTTAGGGGGCTTCTTGCTCCATA... |
Task1_train_21650 | Given this context: Chromosome 15, gene THSD4 (thrombospondin type 1 domain containing 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Aortic aneurysm, familial thoracic 12 | GCAGCCTCAATCTCCCAGGCTCAAGCCATCCCCTGACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAACTTTGGTATTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCCATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTGTGCCCAGCCTAGGCTGACTTTCAAGCAATGCTCTAGTAAGAAACTCTACCCATAGTGATTCTGATGATTCTGTGTACGCTGCTGCGGGCTCACGCTGACTTCCTGT... | GCAGCCTCAATCTCCCAGGCTCAAGCCATCCCCTGACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAACTTTGGTATTTTTTGTAGAGACGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCCATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGCGCCACTGTGCCCAGCCTAGGCTGACTTTCAAGCAATGCTCTAGTAAGAAACTCTACCCATAGTGATTCTGATGATTCTGTGTACGCTGCTGCGGGCTCACGCTGACTTCCTGT... |
Task1_train_21651 | A mutation in NR2E3 (nuclear receptor subfamily 2 group E member 3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinal dystrophy | GGTGGGAAGGATGGACCTGGGAGCAGCGCAGGGGGCTGGTGTGGCAAGAGGCAGGCGGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCC... | GGTGGGAAGGATGGACCTGGGAGCAGCGCAGGGGGCTGGTGTGGCAAGAGGCAGGCGGAGCTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCC... |
Task1_train_21652 | Here is a genetic alteration in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinitis pigmentosa | CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGG... | CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGG... |
Task1_train_21653 | This variant affects the gene NR2E3 (nuclear receptor subfamily 2 group E member 3) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Retinal dystrophy | CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGG... | CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGG... |
Task1_train_21654 | A genetic alteration is present in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Enhanced S-cone syndrome | CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGG... | CTGTGAGGCCGAGTTCGGGGGGAAGGGGAGGACTCCTGAGAGCCCGTGGCCAGGCTCAAGGTGGCTGTGTCCTCACTGGCTCTAGTCCTGCAGGCCTGGCTCTCCAGAGGAGCCTGCCAGCTCCTCTTCTGCCCCCTCACAGGCCTGAAGGAGACCCTCCAGATGGGGATCCAGGCCTCTTTCCTCCAGGCCAGCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGG... |
Task1_train_21655 | The gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinitis pigmentosa 37 | GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCT... | GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCT... |
Task1_train_21656 | Here is a variant affecting NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Enhanced S-cone syndrome | GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCT... | GCCTCAGACCCTACGGGGGACGGTTCTGGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCT... |
Task1_train_21657 | With a mutation on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinal dystrophy | GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATG... | GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATG... |
Task1_train_21658 | With a mutation on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinitis pigmentosa | GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATG... | GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATG... |
Task1_train_21659 | Here is a variant affecting NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Enhanced S-cone syndrome | GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATG... | GGGAACGTCCTCTGTGCCAGGTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATG... |
Task1_train_21660 | Consider a variant on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3). Determine its clinical classification and disease relevance. | Pathogenic; Enhanced S-cone syndrome | GTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCC... | GTGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCC... |
Task1_train_21661 | This sequence change occurs on Chromosome 15, altering NR2E3 (nuclear receptor subfamily 2 group E member 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinal dystrophy | TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCA... | TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCA... |
Task1_train_21662 | Given this variant in gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Enhanced S-cone syndrome | TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCA... | TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCA... |
Task1_train_21663 | This alteration occurs within gene NR2E3 (nuclear receptor subfamily 2 group E member 3) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Retinitis pigmentosa 37 | TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCA... | TGTCTGGGGACTGCTAGCCTTCTGGGGGGGCTGGATCCTCAAATCGTGAGCCCCAAGCAGTCCCTTTCCAAGGGATTGGAGTGAGAACCTCGTGGGGCAGAGCCAGATCTACCTAGGACCCAAGGGGAGTGTCTCAGGCAGGACCCCCACAGGCAAAGACACACACACTGGCCACACACTTGCCTTCGGATGTGTGCCAAGCAGCTCAAAAGGATTTAAAGTCCAGCCAGGTGGGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCATGAGTTCGAGACCAGCCTGGCCA... |
Task1_train_21664 | The following genetic variant occurs in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinitis pigmentosa | CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCA... | CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCA... |
Task1_train_21665 | The gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinal dystrophy | CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCA... | CTCTACTACAAATACAAAAAAAATTAGCCGAGCGTGGTGGCAGGTGCCTGTAATCCCACCTGATTGGGAGGCTGAGGCAGGATAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGACCATGCTACTGCACTCCAGCCTGGGTGGCACAGCGAGACTCCGTATCAAAACAAAGAAAAAGATTTAAAGTCCTTGGGAGAGGTGGAGTCCACACCTCTCTTCAAGATGTGGCATGAAATGGTGAACAGCTGAGCACACAGGGCAGGAGGGCCCCGGGGGACCTTGGGCAGCCCGGGAACCAGCATGGGGTAGCA... |
Task1_train_21666 | A variant on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Enhanced S-cone syndrome | GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAA... | GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAA... |
Task1_train_21667 | A genetic alteration is present in NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Retinitis pigmentosa | GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAA... | GACAGCAGCAGCGGGAAGCACTATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAA... |
Task1_train_21668 | The gene NR2E3 (nuclear receptor subfamily 2 group E member 3), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGAT... | TATGGCATCTATGCCTGCAACGGCTGCAGCGGCTTCTTCAAGAGGAGCGTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGAT... |
Task1_train_21669 | This variant affects the gene NR2E3 (nuclear receptor subfamily 2 group E member 3) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Retinitis pigmentosa | GTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAA... | GTACGGCGGAGGCTCATCTACAGGTGAGTGCGGTGGGCCCTGCTGGGCGTCTGCCCCTGAGGGGTTCTGGAGGGGTGAGGGGGTGCTCAGGGGAAGAGGGGCTTGGGCAAAAATGTCCAAGCCCATGGCTCAGGGCATGGGAGGGACACTGACCCCTGGGGTCTCCTCTTCACCTGCAGGTGCCAGGTGGGGGCAGGGATGTGCCCCGTGGACAAGGCCCACCGCAACCAGTGCCAGGCCTGCCGGCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTGAGGCGGGGGCTGGCCCGGGGGGAGGTGACAAGAA... |
Task1_train_21670 | With a mutation on Chromosome 15 in gene NR2E3 (nuclear receptor subfamily 2 group E member 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinitis pigmentosa | CATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTC... | CATGGAGTCCAACACTGAGTCCCGGCCGGAGTCCCTGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCACGGGGCCCCACACCCATGTCTGCAGCCAGAGCCCTGGGCCACCACTTCATGGCCAGCCTTATAACAGCTGAAACCTGTGCTAAGCTGGAGCCAGAGGATGGTGAGTGGGAGAGCAGCTGAGGGCACAGCAGGGCTTGGCTTCCCGGGTCACAGCAGGGCTGCAGCGCCTTGCCTTGATCCTCCCTCCCCCGGGGCTCCAAGTACTCCCTGCCACCTCCCGAGAAGCAGGCGCTAAGATCACAACCTCCTC... |
Task1_train_21671 | The gene NR2E3 (nuclear receptor subfamily 2 group E member 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | GAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAAACATTCTTTAACTGACTTTATAGTTATTTCTTCTTCCTCCCACTCTAATT... | GAATTGAGCATGAAGATAGTGGTTTGGGGTTCTCTAATCCAGCATATTATTTCAGTTTTTAAAAACTGCAACACCCAGGAAGAAACACAATTACCATCGCCCCCTGATATGCACACAGACACCAAAGCGAAGTTCCACGAAGTAATTCCTACCCTTAGCTTTTACAATTTACCTGATGTTTCTCTTTTCTTTTTTTGAAAAGGCTGATTGTGACCCCCTGAATTTAATTTCAGACCCACTAGGTGAGGCAATACCTGCAGTTTGGAAAAAACATTCTTTAACTGACTTTATAGTTATTTCTTCTTCCTCCCACTCTAATT... |
Task1_train_21672 | Given a variant located on Chromosome 15 and affecting MYO9A (myosin IXA), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; MYO9A-related disorder | TACAGTTCGGCTCAGGTTAATGACTCATTTATCTAATCAGGGGACTTGTTTTGCATTTTTCTCTTTTTGTTGTTGTTGTTTTTGCCTTCATAAAACATCACTTTTGTCACTTAAAAACTGGGTCTACCTCCAACAAAAGATAAAAGACAACGAGAGTATTCTGGACAATAGGAGAAATTTCAATTAATTAGATCTTTGACAATTCAAACAGCTTAAAACAGTTCAAAGATAGAATATTTAATGAGTCAAATAAAGACCATTCTAAAATTTTTCTCTGATAATTGACAGACACTAAAGAATATTAGAGAGCTCAGTTACAG... | TACAGTTCGGCTCAGGTTAATGACTCATTTATCTAATCAGGGGACTTGTTTTGCATTTTTCTCTTTTTGTTGTTGTTGTTTTTGCCTTCATAAAACATCACTTTTGTCACTTAAAAACTGGGTCTACCTCCAACAAAAGATAAAAGACAACGAGAGTATTCTGGACAATAGGAGAAATTTCAATTAATTAGATCTTTGACAATTCAAACAGCTTAAAACAGTTCAAAGATAGAATATTTAATGAGTCAAATAAAGACCATTCTAAAATTTTTCTCTGATAATTGACAGACACTAAAGAATATTAGAGAGCTCAGTTACAG... |
Task1_train_21673 | A sequence alteration has been identified in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Tay-Sachs disease | CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGC... | CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGC... |
Task1_train_21674 | The gene HEXA (hexosaminidase subunit alpha), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Inborn genetic diseases | CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGC... | CACAGTGCCTAGAGAACAATATGTGTTTAATAATATTTAAATAATGGTTGTATAAAATTGAAGCAGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGC... |
Task1_train_21675 | A variant was discovered in gene HEXA (hexosaminidase subunit alpha), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Tay-Sachs disease | AGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGAC... | AGCAAGAAACCCAAAGGAGAATAGCTCTAGGGGAGGGAGGTGGATGAGTATGCATGGGGGAGAGGCTCTTCTGTGACCAGGTTGGGTCTGGAGCCCTCCCCACTGTCCAGAACACCTCCAAGCCCCTACATCTTTTTCCATATACCAACGCCTTGGAGATATAATGCAGAAGTGAAGTGAGCAGGCTGAGGATTAGGGCAGGTGTCTGGAATATGGTCAGGAGTGGGAGGGGAGTGACATAGCTCACAGGCAAGGCAGAACAGCACAAAGGCTATAGGTTTCATTCCCAGCCCTCAACTTAAAAGACCTCAGGGGCAGAC... |
Task1_train_21676 | A genetic alteration is present in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Tay-Sachs disease | TCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGG... | TCCTTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGG... |
Task1_train_21677 | The following genetic variant occurs in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not specified | TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCAC... | TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCAC... |
Task1_train_21678 | A genomic change on Chromosome 15 affects HEXA (hexosaminidase subunit alpha). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Tay-Sachs disease | TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCAC... | TTCCCCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCAC... |
Task1_train_21679 | A variant has been detected on Chromosome 15 in HEXA (hexosaminidase subunit alpha). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; GM2-ganglioside accumulation | CCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGG... | CCATTTCGGTGACTCTCAAACTGTCACTGTACACCAAATGCACCTGGGAATCTCAATTCCAGAGATTCTCACCTGGGGTGGGGCAAAGTATTGGCAAGAATCTGCAAGCTGAACAGGTGCCTCAGGTGATTCTGATACAGGTCTTGGAGATCCAGAAACGTTGGCGACATCTATTTATATCCTGCCCATCTCTGTACCCTAACCCCAAATAACTCAATCCCTTTAGAATATAGATGGATGTCTGAAAGGCAGCCAATGCTCTTGGTCTACTTAGCCCTCTGTTCCTGACTCTAAAATGCTGTAAATATGGTGGCACTGGG... |
Task1_train_21680 | Given this context: Chromosome 15, gene HEXA (hexosaminidase subunit alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Tay-Sachs disease | GGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGT... | GGGACTTAGGTGCTGTCCTGTCCATGAACATGGATGCGAAATCCTGTCCTTGGGTCTCAGTCTATAACCTGACCAATCTCCTTAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGT... |
Task1_train_21681 | A variant found in Chromosome 15 affects HEXA (hexosaminidase subunit alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Tay-Sachs disease | TAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGT... | TAGGGGACCTCTAGGCATGCTTCCCTTATCATCCAAGTAAGCAACATGCTTAGAGAACCAGCTGGAAGTTACCCAGTGAATGACATAATTGAGGCTTAGACACCATCATGCTTGACTCTCAGCCCAGGACTCTGCTCTGCACTAGGCTATGTCCCCCAAGTACTCAAGACCTAGCCAACGAAGGAATCAGGGAAATGACTATCTTACACAGGCACATCCCTGACAGAGGCAAAGGTGTCATGACATCCTGTAAGTCAGCCTGGTTCAAATCCTGCTTCTTAGTGACTTTGGGCAAGGTCCTGAACTCTGTGCTTCAGTGT... |
Task1_train_21682 | This variant impacts the gene HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Tay-Sachs disease | GAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCT... | GAAGTGATCAATACCTTGTTATGAGCCACAGCCAGGTTGGATGGCTCCCAGAGAGTTCTACGGCTCAGCTCCACCTTCATTAAAATGTGGGTAGCAATCCCACTCTCTTCCTCTCTCAAAGATATGGGAATAAGAATAAACCTTAAAGCCATCATTAACCACAATGACAGTGGCAGCAGCAGAGGTCCTTAAAATGTAAACTTTGCACACCCAACCATACTTGGTAAGGCTGCAGTGAAAACAGCAGAGGGAAGCCTTATTACAGGAATCATGGATGCTTGTGCTGGGTCTTGAGCAACTCACCTATGTTCTCCAGGCCT... |
Task1_train_21683 | The variant affects gene HEXA (hexosaminidase subunit alpha), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Tay-Sachs disease | TCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAA... | TCCTGAAGAGTCCTTGCATGTGACAGGAGACTGGGATCTTACTGATCAACAATAAAGGAGAAGGTAACCTTGGTCCCACAGACCCAGAAGACCCTCATCTATGATTTAGGAAGAAAAATCCAGCCTATCCAAGTAACCTAACAGCAGAAATAGTTCTTAATTAAGTTTGTAGTGAGGGAAGATAGAAACTCTGACACATAAACCCAGGGCTCATACCACAGCGGCCTTTGGTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGGTTGAGTGCAGAGGCACATCTTGGCTCACAGCAACCTCTGCCTCCTGGGCTCAA... |
Task1_train_21684 | A change on Chromosome 15 affects gene HEXA (hexosaminidase subunit alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Tay-Sachs disease | CCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGT... | CCTTGCGTTATGACGTCCACATTTTGCTCACATTGTTCTCCTTCTGGAATATTTTCCCCTGCTCACATCTCCAAAAAGCCAAATTGATTTCCCCAGATTCAGCTCTAGCGCCCTCTTCTCAAAGAAGCCCCTCAGCCTCTTTTGAGCTTACTAGAACCAAGGGTTTGGACTTTACAACTGAATACTAATTAGACATTGTCACCTATTAGTCTTGAATTCTGTGTCTTGACTCTTCAACTAGACAATTTTAAGCCTTCATAAACAGGGATTATTTTTCTCTATCCCGAACTTTTCCAAGACAATTCTGTGCCCAGGGCTGT... |
Task1_train_21685 | A variant has been detected on Chromosome 15 in HEXA (hexosaminidase subunit alpha). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Tay-Sachs disease | AAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGT... | AAAATCTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGT... |
Task1_train_21686 | Located on Chromosome 15, this mutation impacts HEXA (hexosaminidase subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Tay-Sachs disease | CTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAA... | CTGGGAAGACAGAGCTGACTTCTAAGAAGAATGTGCTCATGAACTCATAGGTATTATTGAGACTGGGATTCACTGGTCCAAAGGTGCCAGAGGGCTCAGACCCAGAGTAGCAAGGAGTCAGTAATCCAGGGATACCTAAGCCAAGAGAAAACCCCATATGAGTGTCACAAATACATAAACCCCCACGCACAGTCCTACACGTAAGGACACGAGTCACACAAAGCAAGACAAGTGTATTCATAAACATCACACACATTTAGGTAGGCACACTTAGGCACTCACAGACACTGGTAGTCACCACCATTTAGTCACAGTAAAAA... |
Task1_train_21687 | Consider this mutation in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGG... | CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGG... |
Task1_train_21688 | Consider this mutation in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Tay-Sachs disease | CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGG... | CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGG... |
Task1_train_21689 | A variant was discovered in gene HEXA (hexosaminidase subunit alpha), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Inborn genetic diseases | CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGG... | CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGG... |
Task1_train_21690 | The following genetic variant occurs in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Global developmental delay | CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGG... | CTGTTCTTGCCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGG... |
Task1_train_21691 | Given this context: Chromosome 15, gene HEXA (hexosaminidase subunit alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Tay-Sachs disease | CCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCA... | CCAGCAGGGCCACAGCCAGATTCAGACATTGACCCATAAACTTGGTCTGAGTGAAACGGGAACATACCTTTCTCATGAGCTCTGGAAAAGTGAAGCTCTCATATGGGAAGGAAGGATCATCTACCAGATGCCAGTGGAACACGTTCAATTTATTGTACGCCATGACATCCTGTAGGTTAAAGTGCACACTGTGAACCCATCACAGTCTCTCCGGTTTCAGCCTCAAACTTGCGATGTTGGGCGAGCTCTCAGGCCGCTCCACACACCCCTACAGGCTTGACCTGCCTCAGCTCTCAATTAAGTATTTATGGGGTCTATCA... |
Task1_train_21692 | The gene HEXA (hexosaminidase subunit alpha) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Tay-Sachs disease | TTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAG... | TTTCCACTCACATCTCCTCTTCCATTTCTACTGGGGCTATCTCAAGCCACCAGGATCCTAAGGCAAAACAAGATTTTTCTAGGATTCTCAATATTGGGATCCAACCCCAGAGATGAAAAAGGAGCCCTTTTTGAGGGTCCACACTTACTGTGCCCTCAGCAGATTTCCAAACAAGCTGGCTAAAAGTCTCCAGACCTAGGAAGATGTAGAGAGGCAGAGTAAAGACTCAGGGAGTGGAAAAAGAGATGTCTCTATTTGGAAGGTTCTCAATGTAGCAGAGCATAACATTTGGGTACACAGGGAAAATGGATGTAGTGTAG... |
Task1_train_21693 | The gene HEXA (hexosaminidase subunit alpha), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Tay-Sachs disease | ACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATA... | ACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATA... |
Task1_train_21694 | A variant found in Chromosome 15 affects HEXA (hexosaminidase subunit alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Tay-Sachs disease | GCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCA... | GCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAAGCACGTGTAGTCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCA... |
Task1_train_21695 | This variant affects gene HEXA (hexosaminidase subunit alpha) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Tay-Sachs disease | CCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAG... | CCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAG... |
Task1_train_21696 | A sequence alteration has been identified in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Tay-Sachs disease | AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGC... | AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGC... |
Task1_train_21697 | Here is a genetic alteration in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Tay-Sachs disease | AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGC... | AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGC... |
Task1_train_21698 | This sequence variant lies in HEXA (hexosaminidase subunit alpha) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Tay-Sachs disease | AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGC... | AGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTATCACTGCACTCAGCCTCAGTGTAGGCTGAGTGATAAAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGGAAAGGAATTATTCTCATGTATACAATAGTAGGAAACAACCTATAAAGCTTTTGAGAATCTTATAATTCACTGTGTACCTCCCTCTGTTTCATATTTTCGCAATTGAACTATAGAGCCTAGGCCTAGGTCTTAAGACTTTTCTTGTAACCTTCAGAGTGCCCAGCACTGGGATTGACATATACCAGTTAGACGGATTTTTTTTTCCATAAACCAGGC... |
Task1_train_21699 | Given a variant located on Chromosome 15 and affecting BBS4 (Bardet-Biedl syndrome 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Bardet-Biedl syndrome 4 | GGCATGATCTTGGCTCATTGCAGCCTTTGTCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCCAGTAGATGGGACTACAGATGAGTGTCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGAGTTTTATTTTTTAATTTCTCTCTTACTGCAAGGTTGATCATCATGTGTATATTTAAAAACCATTTGTATTTCCCT... | GGCATGATCTTGGCTCATTGCAGCCTTTGTCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCCAGTAGATGGGACTACAGATGAGTGTCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGAGTTTTATTTTTTAATTTCTCTCTTACTGCAAGGTTGATCATCATGTGTATATTTAAAAACCATTTGTATTTCCCT... |
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