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_6500 | This is a variant in GLB1 (galactosidase beta 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... |
Task1_train_6501 | The following genetic variant occurs in GLB1 (galactosidase beta 1) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Infantile GM1 gangliosidosis | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... |
Task1_train_6502 | Here is a genetic alteration in GLB1 (galactosidase beta 1) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; GM1 gangliosidosis type 2 | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... |
Task1_train_6503 | The gene GLB1 (galactosidase beta 1) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; GM1 gangliosidosis type 3 | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... | AGGAGTTGAAGACCACCATGGGAAACATAGTGAGACCTCATCTCTAAAAACAAAGCAAAACAAAAAAATTAGCTGGTGTGGTAGCAGTGCCTGTAATCCCAACTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCACTTTAAGGTTTCAGTGAACTATGATTGAGCCACTACATTCCAGCCAGGTGACAGAGCAAGACCCCAGCTCTAAAAAATTGTTTTAATAAATAAAAATAAAAATTATATATGTCCATGTGAGGCTTAGGAAAAATAAGAATATTTTGCTGAAAAGTAGTAAGAGACATATTTATTTTTTG... |
Task1_train_6504 | A variant found in Chromosome 3 affects CRTAP (cartilage associated protein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Osteogenesis imperfecta type 7 | TGCCACTATCAATGAATGAGAGTTCCTGTTGCTCCACATCCTTGTCAGCATGTGACGTTGTCAGTGTTTTGGATTTTGTAGTGGTATCTCATTGCTGTTTTGGCCTATATTTTTCAAAAATGACAACGGCATGACAAGAAAAGCCGAGGAACCAGTTTAAAGGATATGAAATAGACTAGATGTAACAGTGATCACGGATGGACTGCATCCTAAGAGAAAAAAGTGCCATGAAAGACATAATTGGAACAGCTGACATAACCGGAAATGGAACATGATTAAAGTCTTCTATCAGTATTAAATTTCCTAAATTTGATTGTCTG... | TGCCACTATCAATGAATGAGAGTTCCTGTTGCTCCACATCCTTGTCAGCATGTGACGTTGTCAGTGTTTTGGATTTTGTAGTGGTATCTCATTGCTGTTTTGGCCTATATTTTTCAAAAATGACAACGGCATGACAAGAAAAGCCGAGGAACCAGTTTAAAGGATATGAAATAGACTAGATGTAACAGTGATCACGGATGGACTGCATCCTAAGAGAAAAAAGTGCCATGAAAGACATAATTGGAACAGCTGACATAACCGGAAATGGAACATGATTAAAGTCTTCTATCAGTATTAAATTTCCTAAATTTGATTGTCTG... |
Task1_train_6505 | This variant affects gene MLH1 (mutL homolog 1) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Lynch syndrome 1 | CCCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAAT... | CCCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAAT... |
Task1_train_6506 | Gene MLH1 (mutL homolog 1) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | CCCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAAT... | CCCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAAT... |
Task1_train_6507 | A variant was discovered on Chromosome 3, affecting MLH1 (mutL homolog 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Lynch syndrome | CCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATT... | CCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATT... |
Task1_train_6508 | This variant affects gene MLH1 (mutL homolog 1) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Lynch syndrome 1 | CCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATT... | CCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATT... |
Task1_train_6509 | A mutation found in MLH1 (mutL homolog 1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lynch syndrome 1 | CCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATT... | CCCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATT... |
Task1_train_6510 | A variant was discovered on Chromosome 3, affecting MLH1 (mutL homolog 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Lynch syndrome 1 | CCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTC... | CCAAGTCTTTGATTCTGTATTCATTCCAAAGATTAGTGTTTGCCTGAAGTTTTGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTC... |
Task1_train_6511 | A mutation found in MLH1 (mutL homolog 1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lynch syndrome 1 | TGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTT... | TGTTAGCTCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTT... |
Task1_train_6512 | Here is a variant affecting MLH1 (mutL homolog 1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Lynch syndrome | TCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAAC... | TCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAAC... |
Task1_train_6513 | Here’s a variant in MLH1 (mutL homolog 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lynch syndrome 1 | TCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAAC... | TCCACCCTCACTGAAATAGGTGCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAAC... |
Task1_train_6514 | A variant was discovered in gene MLH1 (mutL homolog 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Lynch syndrome | GCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTC... | GCATATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTC... |
Task1_train_6515 | Given this variant in gene MLH1 (mutL homolog 1) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Lynch syndrome | TATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCG... | TATTCAGGTTTAAAGTTAAATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCG... |
Task1_train_6516 | Chromosome 3 houses a mutation in gene MLH1 (mutL homolog 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Lynch syndrome | AATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTC... | AATGGATTTGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTC... |
Task1_train_6517 | A change on Chromosome 3 affects gene MLH1 (mutL homolog 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Lynch syndrome | TGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTCCACCAAGA... | TGAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTCCACCAAGA... |
Task1_train_6518 | A variant affecting Chromosome 3, within the gene MLH1 (mutL homolog 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Lynch syndrome | GAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTCCACCAAGAA... | GAAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTCCACCAAGAA... |
Task1_train_6519 | The gene MLH1 (mutL homolog 1) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Lynch syndrome | AAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTCCACCAAGAAG... | AAAAAAGTTCTAAGTCCTTTTTAATGAACCTGAGGTCCTTAAAATGTCTCTCAAATTCTTTTTGGAGACGACAGATCACCATTTGATACCTATCAGGATCAAATATTTTTTCATCTTCCTTATTTTGCTGTTTTAGCTCATCAACAACTTCTCTGAGGGCAGGAAAGTCTGTTAGATTTTTTTCCTCAATATGTCTTTGAAATAAATTCAGCTTAACTTCGAAAGTACAAATATGGTCAAAGGCAGCAGCAGCAAAGACTTTACTAACTCGTAATTCTTCACTGAGTTCTCGAAGGTGTTCCATAATGTCCACCAAGAAG... |
Task1_train_6520 | Here is a mutation in MLH1 (mutL homolog 1) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Lynch syndrome 1 | AAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCC... | AAGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCC... |
Task1_train_6521 | A variant found in Chromosome 3 affects MLH1 (mutL homolog 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Lynch syndrome | AGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCT... | AGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCT... |
Task1_train_6522 | A variant on Chromosome 3 in gene MLH1 (mutL homolog 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | AGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCT... | AGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCT... |
Task1_train_6523 | This variant affects the gene MLH1 (mutL homolog 1) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | AGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCT... | AGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCT... |
Task1_train_6524 | This gene mutation involves MLH1 (mutL homolog 1) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Colorectal cancer, hereditary nonpolyposis, type 2 | AGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCT... | AGAGAATTGGAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCT... |
Task1_train_6525 | Mutation context: Chromosome 3, Gene MLH1 (mutL homolog 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Lynch syndrome | GAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGG... | GAAGGTAGATGAAAGAAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGG... |
Task1_train_6526 | This is a variant in MLH1 (mutL homolog 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Lynch syndrome | AAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCT... | AAGGAGCAAGAACCTGGGGATGTTTTTTCCTTTTCACTTGTAATAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCT... |
Task1_train_6527 | Given a variant located on Chromosome 3 and affecting MLH1 (mutL homolog 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lynch syndrome | TAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCC... | TAGTAGTAACAGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCC... |
Task1_train_6528 | A variant on Chromosome 3 in gene MLH1 (mutL homolog 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Lynch syndrome | AGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTG... | AGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTG... |
Task1_train_6529 | The gene MLH1 (mutL homolog 1) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Colorectal cancer, hereditary nonpolyposis, type 2 | AGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTG... | AGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTG... |
Task1_train_6530 | A variant on Chromosome 3 in gene MLH1 (mutL homolog 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Lynch syndrome | AGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTG... | AGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTG... |
Task1_train_6531 | A variant has been detected on Chromosome 3 in MLH1 (mutL homolog 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | AGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTG... | AGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTG... |
Task1_train_6532 | A variant on Chromosome 3 in gene MLH1 (mutL homolog 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Lynch syndrome | AGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTG... | AGAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTG... |
Task1_train_6533 | Given a variant located on Chromosome 3 and affecting MLH1 (mutL homolog 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lynch syndrome | GAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTGG... | GAAGCAATGGCAGACTGGCTTTTGTTTCTACTGTGTTAGAATGAATTGACAGGACAACTGGGCCTATTATTGTACTGTGCCAGAATACTGTAAAACAAAACTAAACATACTAGCTTGGTGGCTTGTAATTAATTACTTAAGTGGAGATTTTTATTTTTTTTTTATTTTTTTTTTAGACGGAGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTGACTGCAACCTCCTCCTCACAGGTTCAAGGGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTATAGGCATGTGCCACCACACCTGG... |
Task1_train_6534 | Given a variant located on Chromosome 3 and affecting MLH1 (mutL homolog 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lynch syndrome | GTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAA... | GTATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAA... |
Task1_train_6535 | Here’s a variant in MLH1 (mutL homolog 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lynch syndrome | TATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAAT... | TATACATGTGCCATGTTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAAT... |
Task1_train_6536 | The variant affects gene MLH1 (mutL homolog 1), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Lynch syndrome | TTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGT... | TTGGTGTGCTGCACCCATTAAGTCATCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGT... |
Task1_train_6537 | A variant has been detected on Chromosome 3 in MLH1 (mutL homolog 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Lynch syndrome 1 | CTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAA... | CTATCCCTCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAA... |
Task1_train_6538 | Here’s a variant in MLH1 (mutL homolog 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lynch syndrome | TCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAACATACGT... | TCCCCCCTCCCCCACCCCACAACAGTCCCCAGTGTGTGATGTTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGCACATGCAGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACCTTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTGTTGCGAATAGTGCTGCAGTAAACATACGT... |
Task1_train_6539 | Given this variant in gene MLH1 (mutL homolog 1) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Lynch syndrome | TTTTAAAAACTGTATTAGTTTCCTGTTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTA... | TTTTAAAAACTGTATTAGTTTCCTGTTGCTGTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTA... |
Task1_train_6540 | This alteration in MLH1 (mutL homolog 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Lynch syndrome | GTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATT... | GTCAAAAAATTTCCAGAAACTTAGTGGCATTAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATT... |
Task1_train_6541 | This variant affects the gene MLH1 (mutL homolog 1) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Lynch syndrome | TAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGATCAATTTACATC... | TAAACAATACAAATTAATTATTCTACAGTTCTGGAGATCAGAAGATACGGGTCTTACTAGGCCTCACTAGGCTAAAATCAAGGTTTTGGCAGGGCTGTGTTCCTCTATGGAGGTTCCAAGGGACCAGAGAAACTACTTTACAGTAGTTATTTTAAGGGAATGAAAGTGAAGATGGGGTTGGGCAGTCAAAGAGGCTGTTACTTTTCATTTTTGGCCTTTCAGTAGTTTGAATTTTTTTATCATATACATGTATTACTTTAATTTTTAAAAAGTAAAAAGCAGCTGTGATTCAGTCTCTGTAATTTAGATCAATTTACATC... |
Task1_train_6542 | An alteration has been detected in MLH1 (mutL homolog 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Lynch syndrome | TTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTG... | TTCAGAAACTGATGAATGGCCTTTGAACAGAACAAAAATGAGATTCAGAATAACAAAATTGCACCTTTGTTTTTATAAGCACTGGCCATTCACTAGTTGAAGACTGGTAGGAATACCTAATTCATGCCAAAAGAAAGATAATTTTTAAAAATCACACAGGTTGTTTGTAGATTAAAAGGGAAAATAGGCTAGGTATAGTGGCTTTGCCTGTGAGTTTGGGAGGCTGAAGTGGGAGGATTGCTTGAAGTCAGGAGTTTGAGACCAGCCTGGGAAACAGAGCAAGACCCCGTCTCTACAGAAAATTTTTAAAAAATTAGCTG... |
Task1_train_6543 | The gene MLH1 (mutL homolog 1) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Lynch syndrome | GGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTG... | GGGAAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAATCCAATTCAAATGATTATGGAAGTAGTGGAGAAATAAACAGGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTG... |
Task1_train_6544 | The following genetic variant occurs in MLH1 (mutL homolog 1) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Lynch syndrome | GGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCAC... | GGAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCAC... |
Task1_train_6545 | Consider a variant on Chromosome 3 in gene MLH1 (mutL homolog 1). Determine its clinical classification and disease relevance. | Pathogenic; Lynch syndrome | GAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACT... | GAAAATGATAAATAATTAAGATAATATATAATATGGCTATATTTTAATCTATTGTTGATATGATTTTCTCTTTTCCCCTTGGGATTAGTATCTATCTCTCTACTGGATATTAATTTGTTATATTTTCTCATTAGAGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAACCATGTGCTGGCAATCAAGGGACCCAGATCACGGTAAGAATGGTACATGGGAGAGTAAATTGTTGAAGCTTTGTTTGTATAAATATTGGAATAAAAAATAAAATTGCTTCTAAGTTTTCAGGGTAATAATAAAATGAATTTGCACT... |
Task1_train_6546 | Assess the clinical impact of this variant on gene MLH1 (mutL homolog 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Lynch syndrome | ATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCA... | ATATATATGTATATGTGTGTATATATATATATTTTTTTTTGAAACGGAATTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACTTGCCACCATGCCCGGCAATTTTTTTTTTGTTTTTTTTTAGTAGAGAGGGGGTTTAATCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCA... |
Task1_train_6547 | This alteration occurs within gene MLH1 (mutL homolog 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Lynch syndrome | TGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAG... | TGCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCATTTTTCAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTTGCACAGGCTGGAGTACAATGGTGTGATCTCGGCTCACCGCAACCTCTACTTCCCAGGTTCAAGCAATTCGCCTGCCTCAGCCTTCTCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCCGGCTAATTTTGTGTTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCAAACTCCCGACCTCAG... |
Task1_train_6548 | This alteration occurs within gene MLH1 (mutL homolog 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Lynch syndrome | CTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGAT... | CTTATTTATCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGAT... |
Task1_train_6549 | A variant affecting Chromosome 3, within the gene MLH1 (mutL homolog 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Lynch syndrome | TCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGC... | TCATTCAACATTTATTAATTGCCTCTCATATTCCAGGCTTTGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGC... |
Task1_train_6550 | This variant lies on Chromosome 3 and affects the gene MLH1 (mutL homolog 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Lynch syndrome | TGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGC... | TGTGCTAGAAGTTAGGGATATAAAGACAAATAAGATATTTCCTGCCCTTAAAGACTAGATTCGTGTTGCTAAGTCTTCATTATCAAGAAAAGCATAAGTGGGGAAAAGTGCTTGCATTATGGATTCCTCATAGTTGCTCCCCTCTGCATGTAAAAATCACCATTTCCATCATAGATTCCTAGCGGTCTCAGGACTTTATAAAGCCCAAAGTGCCTATGTCATAATATGAGGAAAAATACTGAGACCCTTCCATATATGGGAGGTATATGGATGAGACAGCTCCTGACTTCACTTTTCCCAGAAATCTGAAAAGCAGCAGC... |
Task1_train_6551 | Mutation context: Chromosome 3, Gene MLH1 (mutL homolog 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Lynch syndrome | AATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAA... | AATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAA... |
Task1_train_6552 | This variant affects the gene MLH1 (mutL homolog 1) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Lynch syndrome | AATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAA... | AATACAGGAACAGTAAGGACAGAGCCAGTCATTTTACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAA... |
Task1_train_6553 | Located on Chromosome 3, this mutation impacts MLH1 (mutL homolog 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Lynch syndrome 1 | TACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCT... | TACAACCACATTCTGTTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCT... |
Task1_train_6554 | A variant on Chromosome 3 in gene MLH1 (mutL homolog 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Lynch syndrome | TTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATT... | TTAAACTGATGTCTATTAGCAGGGTTTTTCCTATTTTATTAGGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATT... |
Task1_train_6555 | Consider this mutation in MLH1 (mutL homolog 1) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Lynch syndrome | GGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGAC... | GGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGAC... |
Task1_train_6556 | Located on Chromosome 3, this mutation impacts MLH1 (mutL homolog 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Lynch syndrome | GGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGAC... | GGAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGAC... |
Task1_train_6557 | A mutation in MLH1 (mutL homolog 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Lynch syndrome | GAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGACA... | GAAGGACTTACACCTGATATATAACAAAGCTTGTTTTAATCAAGGCTCAGAAAATGTTTTTCATTAGTTTTTTTCCTAACCATGAAGAATAACTGCTTTGTAACACACATGCTGGCTATAAAGCAGACAAAAAATTCACTGTAGGTGCTGCCTGACTGGCCTCTGTCCGTGTTTCTGTTGGGGCTGCTTACCACAGCCTCTGCATTATCATTAGCTAGTGTGTTCACAATACCAAGTTCCCAGTAGCAAAGAAAGGTCAAGCTCTTACGCATGCCATTCATTTATCTACACTGTGCAGGCGCACTCAGGTGGCAGGGACA... |
Task1_train_6558 | The gene MLH1 (mutL homolog 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Lynch syndrome | TTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTT... | TTCTGTTCTGTGGAGGTTCTTGTCTTAACATATCCACTGTTGATTGCCCAGATGTTGATGTAATTAATTTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTT... |
Task1_train_6559 | Chromosome 3 houses a mutation in gene MLH1 (mutL homolog 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Lynch syndrome | TTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGC... | TTAGCAGTCGTAAATAGTTTAGCACTTGCATTAAATAGACCAAACCCCATAGTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGC... |
Task1_train_6560 | A mutation found in MLH1 (mutL homolog 1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lynch syndrome | GTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTA... | GTAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTA... |
Task1_train_6561 | A change on Chromosome 3 affects gene MLH1 (mutL homolog 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Lynch syndrome | TAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAG... | TAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAG... |
Task1_train_6562 | Assess the clinical impact of this variant on gene MLH1 (mutL homolog 1), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Lynch syndrome | TAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAG... | TAGGTATTTGAAATACAGAATAAATGTGAGGTACCCCTGCTCTAAAGGAGTTTATAGTCCAGAGCTGACTTATGGAGGATTTCTTTCTATTATTTCTGGGTCTGCTACTAATTTGTCTATTTCATATCCTAATTATCCTTGTTTTCATTTTGATTGAAAGGGGGAGAGCATAGAAATTGTGGTAAAAGGTAGTTTTATTTTTTATTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCATCTCATTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAG... |
Task1_train_6563 | A variant was discovered in gene MLH1 (mutL homolog 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Lynch syndrome 1 | ATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGA... | ATGTTTTATGGTCTGCCTAAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGA... |
Task1_train_6564 | Here is a mutation in MLH1 (mutL homolog 1) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Lynch syndrome | AAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACATATGAATTTTG... | AAACCTTTAGTGGGGCCTTTGATGGCTTAGTCCTTTCAGGCTTAAGACAATAGAAGTTTATTTCTCAGAGTTCTAAAAGCTGGGAAGTCCAAGATCAAGGCACCGACAGATTTAGTGTCTAGTGAAGGCCCGCTTCCTCATACATGGCACCTTCTAGCTGTATCCTTACATAGTGGAAGGGAATAGCTAGCTCTCTGGAGTTTCTTTCATAAGGGCTAATCCCACTAATCCCAATTATGAGGGAAGACCTAATCACCTCCCAAAGGCCCCACCTCCTAATAGTATCACCTTGGGGGTTAGGATTTAACATATGAATTTTG... |
Task1_train_6565 | Given a variant located on Chromosome 3 and affecting MLH1 (mutL homolog 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | TTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCC... | TTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCC... |
Task1_train_6566 | With a mutation on Chromosome 3 in gene MLH1 (mutL homolog 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Lynch syndrome | TTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCC... | TTGGTGACATAACCTCTCTCATTCCTAATATTGGTAATTTCAGGCTTTTCTTTTTAACTTGGTCAGTCTGGCTAGAGGTTTATCAATTTTATTGATCTTCTCAAAGAACTAACTTTTGGTTTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCC... |
Task1_train_6567 | This alteration in MLH1 (mutL homolog 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Lynch syndrome | TTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTG... | TTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTG... |
Task1_train_6568 | A mutation on Chromosome 3 affecting MLH1 (mutL homolog 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Lynch syndrome | TTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTG... | TTCATAGATTTTTCTATTTTCTATTTCATTGATATCTGCTCTGACTTTTAATCTTTCTTATACCTATTTTGGTTTAATTTGTCTTCTGTTTCACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTACAGTGGTGCGATCTTGGCTCACTGTAACCTCAGCCTTCCAGGTTCAAGCGATTCCTGTTTCTAAGCCTCCCAAGTAGCTGAGATTACAGGCATGCACCACCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTG... |
Task1_train_6569 | The gene MLH1 (mutL homolog 1) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Lynch syndrome | GAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTG... | GAAACTTCCAACTATAATTATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTG... |
Task1_train_6570 | This mutation occurs in MLH1 (mutL homolog 1) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Lynch syndrome | ATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGC... | ATGATTTGTCTGTTCTCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGC... |
Task1_train_6571 | The gene MLH1 (mutL homolog 1), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Lynch syndrome | TCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGT... | TCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGT... |
Task1_train_6572 | A variant found in Chromosome 3 affects MLH1 (mutL homolog 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Lynch syndrome | TCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGT... | TCTTTGCAGTTCTCTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGT... |
Task1_train_6573 | The gene MLH1 (mutL homolog 1) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Lynch syndrome | CTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAG... | CTTAGTTTTTGCCTTCATATATATATACATATATATGTATATATATATATATTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCAAGGATGGTCTCGATCTGACCTCGTGATCCGCCCAGCTTAGCCTCCCAAAGTGCTGGGATTACAG... |
Task1_train_6574 | The gene MLH1 (mutL homolog 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Lynch syndrome | TATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAA... | TATTTTAAAGCTCTGTTATTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAA... |
Task1_train_6575 | This sequence variant lies in MLH1 (mutL homolog 1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Lynch syndrome | TTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCT... | TTGGGTACATAAACATTTAGGATTGTTATATCCTTTTGATAATGGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCT... |
Task1_train_6576 | A variant affecting Chromosome 3, within the gene MLH1 (mutL homolog 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary cancer-predisposing syndrome | GGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATC... | GGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATC... |
Task1_train_6577 | A variant on Chromosome 3 in gene MLH1 (mutL homolog 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Colorectal cancer, hereditary nonpolyposis, type 2 | GGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATC... | GGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATC... |
Task1_train_6578 | The variant affects gene MLH1 (mutL homolog 1), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary nonpolyposis colorectal neoplasms | GGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATC... | GGACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATC... |
Task1_train_6579 | A mutation in MLH1 (mutL homolog 1), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Lynch syndrome | GACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATCC... | GACTCTTCTATTATGAAAAGATAATATACTGTGGGTTTATAACATATGTAAAAGTATGAGTAACATATTATCAGAAGGGGAGAAATGGAAGATAACTTAGGCATCTTATTTTTAAGCATAGTTTTCCCTTTGTTTCTGCATTAGATGATTTACCTGAAATGTCATTCAATTTAACTTACTCTCCATCCTCACCCGCCCAGCTTTGGTTATGAGGCAGTAGAAAGAAATGATCTGCCTGTGGTTTTCTAGAAATACGAAAGTTGAGTCCTTAAGGCTACACAGAAAGAAAGTACCTCCCCAGGGCTTCACCCTTCCCATCC... |
Task1_train_6580 | Given this variant in gene MLH1 (mutL homolog 1) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Lynch syndrome | CCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGA... | CCTATCTTCATTCTTCGACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGA... |
Task1_train_6581 | This sequence change occurs on Chromosome 3, altering MLH1 (mutL homolog 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Lynch syndrome 1 | ACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACG... | ACTAGCCACTGAGGTCAGTGATCAAGCAGATACTAAGCATTTCGGTACATGCATGTGTGCTGGAGGGAAAGGGCAAATGACCACCCTTTGATCTGGAATGATAAAGATGATAAGGGTGGGATAGCTGAAGGCCTGCTCTCATCCCCACTAATATTCATTCCCAGCAATATTCAGCAGTCCCATTTACAGTTTTAACGCCTAAAGTATCACATTTCGTTTTTTAGCTTTAAGTAGTCTGTGATCTCCGTTTAGAATGAGAATGTTTAAATTCGTACCTATTTTGAGGTATTGAATTTCTTTGGACCAGGTGAATTGGGACG... |
Task1_train_6582 | Given this variant in gene PLCD1 (phospholipase C delta 1) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Nonsyndromic congenital nail disorder 3 | AAGCCCTCTCGACTGCCCCTATCCCCTGGACCCCAACATACCTACAATGCTGGGGAGGCCCTGCTTCCACTCCCCTCAGAGGCTTTTGGTCATCCTCTGCGTGTCAGTAAAAGCAGGCAGCCCATACGAGCTGTGGTATGCGTGCTTTCAAGCCCGGGCCACTCAGCAGGTCCACCTCTCAGGGGAAGGGGCCTCCAGGGCTGGCGGGTGTGAGCTCTCAGTGCCACCCCACAGAGGGGTTTATTTCTCGTTGGTCTCTCCAGATACCCCTGCCCTACTCAACTATGTGCAAGGAAGGTGGAGAGTGAGGTGCTAGGGCT... | AAGCCCTCTCGACTGCCCCTATCCCCTGGACCCCAACATACCTACAATGCTGGGGAGGCCCTGCTTCCACTCCCCTCAGAGGCTTTTGGTCATCCTCTGCGTGTCAGTAAAAGCAGGCAGCCCATACGAGCTGTGGTATGCGTGCTTTCAAGCCCGGGCCACTCAGCAGGTCCACCTCTCAGGGGAAGGGGCCTCCAGGGCTGGCGGGTGTGAGCTCTCAGTGCCACCCCACAGAGGGGTTTATTTCTCGTTGGTCTCTCCAGATACCCCTGCCCTACTCAACTATGTGCAAGGAAGGTGGAGAGTGAGGTGCTAGGGCT... |
Task1_train_6583 | With a mutation on Chromosome 3 in gene PLCD1 (phospholipase C delta 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; PLCD1-related disorder | AAGCCCTCTCGACTGCCCCTATCCCCTGGACCCCAACATACCTACAATGCTGGGGAGGCCCTGCTTCCACTCCCCTCAGAGGCTTTTGGTCATCCTCTGCGTGTCAGTAAAAGCAGGCAGCCCATACGAGCTGTGGTATGCGTGCTTTCAAGCCCGGGCCACTCAGCAGGTCCACCTCTCAGGGGAAGGGGCCTCCAGGGCTGGCGGGTGTGAGCTCTCAGTGCCACCCCACAGAGGGGTTTATTTCTCGTTGGTCTCTCCAGATACCCCTGCCCTACTCAACTATGTGCAAGGAAGGTGGAGAGTGAGGTGCTAGGGCT... | AAGCCCTCTCGACTGCCCCTATCCCCTGGACCCCAACATACCTACAATGCTGGGGAGGCCCTGCTTCCACTCCCCTCAGAGGCTTTTGGTCATCCTCTGCGTGTCAGTAAAAGCAGGCAGCCCATACGAGCTGTGGTATGCGTGCTTTCAAGCCCGGGCCACTCAGCAGGTCCACCTCTCAGGGGAAGGGGCCTCCAGGGCTGGCGGGTGTGAGCTCTCAGTGCCACCCCACAGAGGGGTTTATTTCTCGTTGGTCTCTCCAGATACCCCTGCCCTACTCAACTATGTGCAAGGAAGGTGGAGAGTGAGGTGCTAGGGCT... |
Task1_train_6584 | A variant has been detected on Chromosome 3 in PLCD1 (phospholipase C delta 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Nonsyndromic congenital nail disorder 3 | ATGTCAGAGAGCTCCTGTGCTAGCCTGAGCTTGTCCTCCTGGGGAACACGGGGAGGCCCGGGTTAGATTCAGTGGTTGGGGTAGGGTAGGCACTGAGAAAGCCAGAAACCCAGGCGCAGAGAGACAGAGGGAGACAGACAGAGAGAGCGGGGCAGAGGGTCTGAGTGGCAGCCACAGAGAACTGAGACAAGGCAGACCTCCCACGGGTGAGGGGATGGGGAAGGCCCGGGCTGCCCCACCCCACAGCTCCCCCTCAAACCTTGGGCTTGTGCTGCACACGGCTCCTCACTGCCTCATCCTCCATCTCAGCAGCCTCGTCT... | ATGTCAGAGAGCTCCTGTGCTAGCCTGAGCTTGTCCTCCTGGGGAACACGGGGAGGCCCGGGTTAGATTCAGTGGTTGGGGTAGGGTAGGCACTGAGAAAGCCAGAAACCCAGGCGCAGAGAGACAGAGGGAGACAGACAGAGAGAGCGGGGCAGAGGGTCTGAGTGGCAGCCACAGAGAACTGAGACAAGGCAGACCTCCCACGGGTGAGGGGATGGGGAAGGCCCGGGCTGCCCCACCCCACAGCTCCCCCTCAAACCTTGGGCTTGTGCTGCACACGGCTCCTCACTGCCTCATCCTCCATCTCAGCAGCCTCGTCT... |
Task1_train_6585 | This mutation occurs in MYD88 (MYD88 innate immune signal transduction adaptor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Pyogenic bacterial infections due to MyD88 deficiency | CGGCCGAGGCCTGCGGGGCACCGCTCAGGCAAGGCGCGGCCTGCGGCATCCAGCCGGAATCGGCCGGACCCCTCAGGTGGCCCAGCACTACCTGCAGCCTCTGCATTGCGCAGGTCAACCCTGCAGACCAGCCACCAGTCCGGGAACTGACCGCGGAGTTAACAGACAGCCGTCCGCACACGCGCAGAACCACATCTCAGCCTCCAAGGCCTCAACTCCGCCCACAGCTCTGCGAACAGACGCGAGCGACCCTCCAAAAGTCCCGTCCACCTCCAGCCTCAGCCAACCACAAGGAGAGTCGGCCTGGGAACCCGCCCCTC... | CGGCCGAGGCCTGCGGGGCACCGCTCAGGCAAGGCGCGGCCTGCGGCATCCAGCCGGAATCGGCCGGACCCCTCAGGTGGCCCAGCACTACCTGCAGCCTCTGCATTGCGCAGGTCAACCCTGCAGACCAGCCACCAGTCCGGGAACTGACCGCGGAGTTAACAGACAGCCGTCCGCACACGCGCAGAACCACATCTCAGCCTCCAAGGCCTCAACTCCGCCCACAGCTCTGCGAACAGACGCGAGCGACCCTCCAAAAGTCCCGTCCACCTCCAGCCTCAGCCAACCACAAGGAGAGTCGGCCTGGGAACCCGCCCCTC... |
Task1_train_6586 | The gene SCN5A (sodium voltage-gated channel alpha subunit 5), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cardiovascular phenotype | TAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGA... | TAAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGA... |
Task1_train_6587 | This alteration occurs within gene SCN5A (sodium voltage-gated channel alpha subunit 5) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Brugada syndrome 1 | AAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGAT... | AAAATATTTTTCCCTGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGAT... |
Task1_train_6588 | Located on Chromosome 3, this mutation impacts SCN5A (sodium voltage-gated channel alpha subunit 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCT... | TGAAAAAGCCTTTTCACAAGACCTATGGGACCACCTGGATCTTGCCCCAAAGAGGTCCTCTGTGTGGGTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCT... |
Task1_train_6589 | Assess the clinical impact of this variant on gene SCN5A (sodium voltage-gated channel alpha subunit 5), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cardiovascular phenotype | GTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGG... | GTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGG... |
Task1_train_6590 | A variant affecting Chromosome 3, within the gene SCN5A (sodium voltage-gated channel alpha subunit 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Long QT syndrome 3 | GTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGG... | GTGCCATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGG... |
Task1_train_6591 | This alteration in SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | CATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCA... | CATCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCA... |
Task1_train_6592 | The gene SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Long QT syndrome 3 | TCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCAGC... | TCAGGATCCCGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCAGC... |
Task1_train_6593 | Here is a variant affecting SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Long QT syndrome 3 | CGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCAGCCCTCTCTTC... | CGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCAGCCCTCTCTTC... |
Task1_train_6594 | Assess the clinical impact of this variant on gene SCN5A (sodium voltage-gated channel alpha subunit 5), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; SUDDEN INFANT DEATH SYNDROME | CGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCAGCCCTCTCTTC... | CGGGCTGAGCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCAGCCCTCTCTTC... |
Task1_train_6595 | The gene SCN5A (sodium voltage-gated channel alpha subunit 5) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCAGCCCTCTCTTCCGATGGCT... | GCCAGAGAGGCTGGGCCTGACCACAGTGCCCCCTCTCTCAAAGGTGCCATGGTTCATTCCCCTCTAAGGGCACGAGAACTGGGCCTGACCATCCCTTTCCCTGCACAGGGCGCAGGGCCAAGCTCCGCTCCCCACTCCCATGTCTCTGTGTCTGGAGAGGAGCTGGAGACCACACAGAAAACTCCTCCGCGTATGGTCCAGAGAGCCCTGGGAGATCGCCAGTTTCCTCTCTTCAGGCAGGCTGAGGGGCCGCCATGGCTCAGGGCTGGTGAACTTCTTAGCCCCAAACCCCCATGGCTCAGCCCTCTCTTCCGATGGCT... |
Task1_train_6596 | This mutation is located in gene SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Congenital long QT syndrome | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... |
Task1_train_6597 | Consider a variant on Chromosome 3 in gene SCN5A (sodium voltage-gated channel alpha subunit 5). Determine its clinical classification and disease relevance. | Pathogenic; Long QT syndrome 3 | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... |
Task1_train_6598 | This sequence change occurs on Chromosome 3, altering SCN5A (sodium voltage-gated channel alpha subunit 5). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Long QT syndrome | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... |
Task1_train_6599 | The gene SCN5A (sodium voltage-gated channel alpha subunit 5) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; SCN5A-related disorder | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... | AGCAAGGACAAGCTGCATGCCAGGCCGTGAATGGGGCTTGCACCCTTGTGTCCTTTGGTTTTGTTAATACTCTTACAGGAGGGGAAGAAAAGGCAACTATCAGTGCCTAGGGCCAGCCCTGGGACCCAGGCCACTCTCCTCTGGAAGCCTTTTATTTTTGTAGGACTGACAATATGACCTGCGTGAAAACACAGGGGGAAAATGGGACCTTGGAGACAATAGGGGGCCAGAGTGAGCCCCGTGGACAAGAACCCCATCCTTGGGGGGCCGGCAGGGAAAGGCCTGTCTCCCTTAGGCTGGGAGCCTGGGTCCCACGGCCT... |
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