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_13700 | The variant affects gene KIF5B (kinesin family member 5B), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability | AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTT... | AAATCATAGCTGGCTTAACAGCTACAAAATCACCAAATTTTGAAAAGTCCAACCCAGTTTGGTGCCCACTTTAAAATAACTCATATGGCAGAACAGATACAAGGTGAGCATCCCCACTCCGAAGTGCTCGAAAATCTGGGACTTTTTGAGTGCTTGCATGATGCTCAAAGAAAATGCTCACTGAAGCATTTTGGACTTGCCAATTAGAAATGCTCAACTGGTAAGTATAATGCAAACATTCCAAAATCTGAAACGCTTGGGGCTTCTGTATTTGTAATGCCTGTACTATACTGTATTTGTAATGCCATTTATTGACTTTT... |
Task1_train_13701 | This gene mutation involves PARD3 (par-3 family cell polarity regulator) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neural tube defect | ACTCTGGAGGCTATCCCTACAGAATTAAAAATATACCTTATATTCATATGTATTCTATCTCCTGTTACATTTGAAATGAGTGAAATATTATAAGAGCAAACTGCATTTTTTAAGGAAAATTAAATAACATTTTAACCAGAACAAGAAAAAAGTTCAAAAGCATCATTATAGATACTTAAAAAATATATATCAAGGGGCCAAAGCATAGTAATTTTTGATTAAATATACACCCAAGACAGAGAGAAGCAAGCTCTATAATTGTCAAGTAATATTGATTAGGATGGCAAGGAACCATTATTACAAAGAGAAAAAACTCAATA... | ACTCTGGAGGCTATCCCTACAGAATTAAAAATATACCTTATATTCATATGTATTCTATCTCCTGTTACATTTGAAATGAGTGAAATATTATAAGAGCAAACTGCATTTTTTAAGGAAAATTAAATAACATTTTAACCAGAACAAGAAAAAAGTTCAAAAGCATCATTATAGATACTTAAAAAATATATATCAAGGGGCCAAAGCATAGTAATTTTTGATTAAATATACACCCAAGACAGAGAGAAGCAAGCTCTATAATTGTCAAGTAATATTGATTAGGATGGCAAGGAACCATTATTACAAAGAGAAAAAACTCAATA... |
Task1_train_13702 | The gene PARD3 (par-3 family cell polarity regulator) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Neural tube defect | AGTATATTCTATAAGTAAACAAGTAAGTTTAGCCATTTGACATGGCCTTCGACAACTGTGCAGTGAACTACATGTACAATTTAAAATGTCAAATGAGTTTGTGCATTAGTAAGAGTCTTAAATAACTAAATATTCTTAAACTATGACAAAATTAATTCTTCCCTATCAATATTCCCACTAAACTTATTTCAGACACAATAAACGGTACACTGGAATATTTAACAAGTTAGATGGCAGGAATGACAGCTGATTCTTTAAAGAATGTAACCATATCCTGACCCCTAATGTTATTAAAATTCCAGTTATTAATCCTGTCTTAT... | AGTATATTCTATAAGTAAACAAGTAAGTTTAGCCATTTGACATGGCCTTCGACAACTGTGCAGTGAACTACATGTACAATTTAAAATGTCAAATGAGTTTGTGCATTAGTAAGAGTCTTAAATAACTAAATATTCTTAAACTATGACAAAATTAATTCTTCCCTATCAATATTCCCACTAAACTTATTTCAGACACAATAAACGGTACACTGGAATATTTAACAAGTTAGATGGCAGGAATGACAGCTGATTCTTTAAAGAATGTAACCATATCCTGACCCCTAATGTTATTAAAATTCCAGTTATTAATCCTGTCTTAT... |
Task1_train_13703 | Gene BMS1 (BMS1 ribosome biogenesis factor) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Aplasia cutis congenita | AGAGTCAAACCCGGATAGACTTTATTTGGAAGCTGGGTCAGTAGGATTTCCTGGTGGACTGAATGTGGGGTGTGTGAGAGGAAATGAGGATGTCGACTGGAAGTTCCTGGAAGGACGGGTTGTTGTAAGTTAGATAGGAAACCCTCTGCAGATGCAGTTTTGGGAAGATGATGTTTGGTTCGGCTGGGTATCATGCAGACAAGTGAAATGTCAGGTCTGGAGAGAGGTCTGGCCAGGGACTTAGATGTAGATGCCCTCAGCATGTAGATGCCACTTAACGCTGTGAGGTGGCCGGGAGTGAGTGCAGAGTGAGTGGGAGG... | AGAGTCAAACCCGGATAGACTTTATTTGGAAGCTGGGTCAGTAGGATTTCCTGGTGGACTGAATGTGGGGTGTGTGAGAGGAAATGAGGATGTCGACTGGAAGTTCCTGGAAGGACGGGTTGTTGTAAGTTAGATAGGAAACCCTCTGCAGATGCAGTTTTGGGAAGATGATGTTTGGTTCGGCTGGGTATCATGCAGACAAGTGAAATGTCAGGTCTGGAGAGAGGTCTGGCCAGGGACTTAGATGTAGATGCCCTCAGCATGTAGATGCCACTTAACGCTGTGAGGTGGCCGGGAGTGAGTGCAGAGTGAGTGGGAGG... |
Task1_train_13704 | Here is a mutation in RET (ret proto-oncogene) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Multiple endocrine neoplasia, type 2 | CGCCCGCCTTCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGATCTTAAACTCCCGACCTTAAGTGATCTGCCCACCTAGGCCTCCGAAAGTATTAGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGATTTCCCTCCTTTCTAAGACTGAATATTCCATTGTATGTATAGACCATGTTTTGTTCATCCATTCATCCATTGATGGCCACTGAGGTTGCTTCCACCTTTTGTCTATCGTGAATAGTGCTGTTGTGAACATGGGTGTGTAAATATCTATTTGAGACTTGGCT... | CGCCCGCCTTCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCTAGGCTGATCTTAAACTCCCGACCTTAAGTGATCTGCCCACCTAGGCCTCCGAAAGTATTAGGATTACAGGCGTGAGCCACTGCGCCCGGCCAGATTTCCCTCCTTTCTAAGACTGAATATTCCATTGTATGTATAGACCATGTTTTGTTCATCCATTCATCCATTGATGGCCACTGAGGTTGCTTCCACCTTTTGTCTATCGTGAATAGTGCTGTTGTGAACATGGGTGTGTAAATATCTATTTGAGACTTGGCT... |
Task1_train_13705 | Here’s a variant in RET (ret proto-oncogene) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hirschsprung disease | ATGGGGCAGAATAGTTCCTGGGGCAGGGGGCAGGTCTGGGAGTGGCTTGCAGGGCTTTCTCCGGAGGAACATGGGGAGCTATGGAAGACTTTGGAGGGAGGGAGTGCTGGCAGGACCTGACTTAGTTTTAAAAGGATTAGTCAGACTACTGTGTTAGGAATGGTTTGGGGTGGGAAGGTTCAGGGGCGAAGCTGGGAGACAATCAGAAGGCTACAGGAGAAACCTCTGAACAGGAGGATGTGGGGTGTGATGCCGGGATACGGGTGGAAGCCGAGGCATGGCGAGAAGCAGGCAGCTGCAGCCAGTCAGAGGGTGGGATG... | ATGGGGCAGAATAGTTCCTGGGGCAGGGGGCAGGTCTGGGAGTGGCTTGCAGGGCTTTCTCCGGAGGAACATGGGGAGCTATGGAAGACTTTGGAGGGAGGGAGTGCTGGCAGGACCTGACTTAGTTTTAAAAGGATTAGTCAGACTACTGTGTTAGGAATGGTTTGGGGTGGGAAGGTTCAGGGGCGAAGCTGGGAGACAATCAGAAGGCTACAGGAGAAACCTCTGAACAGGAGGATGTGGGGTGTGATGCCGGGATACGGGTGGAAGCCGAGGCATGGCGAGAAGCAGGCAGCTGCAGCCAGTCAGAGGGTGGGATG... |
Task1_train_13706 | This sequence variant lies in RET (ret proto-oncogene) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary cancer-predisposing syndrome | CAGAGACAGAGGGGCGACAAGACAGAGGGCCCCGGGGGGTCTCATGGGGGGCGGGGCAAGAGCAGGCATTGCTGAAGTTGGGTCACCTGCCCTCTGTCAGGAGCAACGGGGGCCTGAATCCCAGTCCAGCCTCAGCCTCACTGTGGTCTCACCTTTCTCCCCAGTTTGTAAAGCTGTGAATTAGGGACAGGAACCCTGAACAATTTTGAGAGTCACATGAGCATTTGGAAGTGGGCTTTGTAGGGGAAAGTGAGGAGGCCCAGGAGGCTGGTTTTTGCTGTGGTCACTTGTGGGCCTGGGAGAGCCCAGCCCTGCTCTGG... | CAGAGACAGAGGGGCGACAAGACAGAGGGCCCCGGGGGGTCTCATGGGGGGCGGGGCAAGAGCAGGCATTGCTGAAGTTGGGTCACCTGCCCTCTGTCAGGAGCAACGGGGGCCTGAATCCCAGTCCAGCCTCAGCCTCACTGTGGTCTCACCTTTCTCCCCAGTTTGTAAAGCTGTGAATTAGGGACAGGAACCCTGAACAATTTTGAGAGTCACATGAGCATTTGGAAGTGGGCTTTGTAGGGGAAAGTGAGGAGGCCCAGGAGGCTGGTTTTTGCTGTGGTCACTTGTGGGCCTGGGAGAGCCCAGCCCTGCTCTGG... |
Task1_train_13707 | Chromosome 10 houses a mutation in gene RET (ret proto-oncogene). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Multiple endocrine neoplasia, type 2 | CAGAGACAGAGGGGCGACAAGACAGAGGGCCCCGGGGGGTCTCATGGGGGGCGGGGCAAGAGCAGGCATTGCTGAAGTTGGGTCACCTGCCCTCTGTCAGGAGCAACGGGGGCCTGAATCCCAGTCCAGCCTCAGCCTCACTGTGGTCTCACCTTTCTCCCCAGTTTGTAAAGCTGTGAATTAGGGACAGGAACCCTGAACAATTTTGAGAGTCACATGAGCATTTGGAAGTGGGCTTTGTAGGGGAAAGTGAGGAGGCCCAGGAGGCTGGTTTTTGCTGTGGTCACTTGTGGGCCTGGGAGAGCCCAGCCCTGCTCTGG... | CAGAGACAGAGGGGCGACAAGACAGAGGGCCCCGGGGGGTCTCATGGGGGGCGGGGCAAGAGCAGGCATTGCTGAAGTTGGGTCACCTGCCCTCTGTCAGGAGCAACGGGGGCCTGAATCCCAGTCCAGCCTCAGCCTCACTGTGGTCTCACCTTTCTCCCCAGTTTGTAAAGCTGTGAATTAGGGACAGGAACCCTGAACAATTTTGAGAGTCACATGAGCATTTGGAAGTGGGCTTTGTAGGGGAAAGTGAGGAGGCCCAGGAGGCTGGTTTTTGCTGTGGTCACTTGTGGGCCTGGGAGAGCCCAGCCCTGCTCTGG... |
Task1_train_13708 | Given this context: Chromosome 10, gene RET (ret proto-oncogene) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Multiple endocrine neoplasia type 2A | CAGAGACAGAGGGGCGACAAGACAGAGGGCCCCGGGGGGTCTCATGGGGGGCGGGGCAAGAGCAGGCATTGCTGAAGTTGGGTCACCTGCCCTCTGTCAGGAGCAACGGGGGCCTGAATCCCAGTCCAGCCTCAGCCTCACTGTGGTCTCACCTTTCTCCCCAGTTTGTAAAGCTGTGAATTAGGGACAGGAACCCTGAACAATTTTGAGAGTCACATGAGCATTTGGAAGTGGGCTTTGTAGGGGAAAGTGAGGAGGCCCAGGAGGCTGGTTTTTGCTGTGGTCACTTGTGGGCCTGGGAGAGCCCAGCCCTGCTCTGG... | CAGAGACAGAGGGGCGACAAGACAGAGGGCCCCGGGGGGTCTCATGGGGGGCGGGGCAAGAGCAGGCATTGCTGAAGTTGGGTCACCTGCCCTCTGTCAGGAGCAACGGGGGCCTGAATCCCAGTCCAGCCTCAGCCTCACTGTGGTCTCACCTTTCTCCCCAGTTTGTAAAGCTGTGAATTAGGGACAGGAACCCTGAACAATTTTGAGAGTCACATGAGCATTTGGAAGTGGGCTTTGTAGGGGAAAGTGAGGAGGCCCAGGAGGCTGGTTTTTGCTGTGGTCACTTGTGGGCCTGGGAGAGCCCAGCCCTGCTCTGG... |
Task1_train_13709 | Here is a variant affecting RET (ret proto-oncogene) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Multiple endocrine neoplasia, type 2 | TGGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTG... | TGGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTG... |
Task1_train_13710 | A sequence alteration has been identified in RET (ret proto-oncogene) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Hereditary cancer-predisposing syndrome | TGGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTG... | TGGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTG... |
Task1_train_13711 | Gene RET (ret proto-oncogene), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hirschsprung disease, susceptibility to, 1 | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... |
Task1_train_13712 | A variant on Chromosome 10 in gene RET (ret proto-oncogene) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Multiple endocrine neoplasia type 2A | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... |
Task1_train_13713 | Consider a variant on Chromosome 10 in gene RET (ret proto-oncogene). Determine its clinical classification and disease relevance. | Pathogenic; Familial medullary thyroid carcinoma | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... |
Task1_train_13714 | A variant affecting Chromosome 10, within the gene RET (ret proto-oncogene), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary cancer-predisposing syndrome | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... |
Task1_train_13715 | A genetic alteration is present in RET (ret proto-oncogene) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Multiple endocrine neoplasia, type 2 | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... |
Task1_train_13716 | An alteration has been detected in RET (ret proto-oncogene) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... |
Task1_train_13717 | The variant affects gene RET (ret proto-oncogene), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Multiple endocrine neoplasia, type 2 | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... |
Task1_train_13718 | Chromosome 10 houses a mutation in gene RET (ret proto-oncogene). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Multiple endocrine neoplasia type 2A | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... |
Task1_train_13719 | A mutation found in RET (ret proto-oncogene) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Multiple endocrine neoplasia, type 2 | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... |
Task1_train_13720 | Gene RET (ret proto-oncogene) on Chromosome 10 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... |
Task1_train_13721 | Gene RET (ret proto-oncogene), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not specified | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... | GGGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGA... |
Task1_train_13722 | Here is a variant affecting RET (ret proto-oncogene) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Multiple endocrine neoplasia, type 2 | GGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGAC... | GGGAAGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGAC... |
Task1_train_13723 | This gene mutation involves RET (ret proto-oncogene) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Multiple endocrine neoplasia, type 2 | AGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCT... | AGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCT... |
Task1_train_13724 | The gene RET (ret proto-oncogene) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | AGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCT... | AGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCT... |
Task1_train_13725 | This variant affects gene RET (ret proto-oncogene) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | AGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCT... | AGGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCT... |
Task1_train_13726 | A mutation found in RET (ret proto-oncogene) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Multiple endocrine neoplasia, type 2 | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... |
Task1_train_13727 | A change on Chromosome 10 affects gene RET (ret proto-oncogene). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; MEN2 phenotype: Unclassified | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... |
Task1_train_13728 | This variant impacts the gene RET (ret proto-oncogene) on Chromosome 10. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary cancer-predisposing syndrome | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... |
Task1_train_13729 | Given a variant located on Chromosome 10 and affecting RET (ret proto-oncogene), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Multiple endocrine neoplasia type 2A | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... |
Task1_train_13730 | This mutation occurs in RET (ret proto-oncogene) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Multiple endocrine neoplasia, type 2 | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... |
Task1_train_13731 | A mutation in RET (ret proto-oncogene), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary cancer-predisposing syndrome | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... | GGCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTG... |
Task1_train_13732 | A variant affecting Chromosome 10, within the gene RET (ret proto-oncogene), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Multiple endocrine neoplasia, type 2 | GCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGC... | GCATGGACCAGCTTCACCCTGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGC... |
Task1_train_13733 | Chromosome 10 houses a mutation in gene RET (ret proto-oncogene). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hirschsprung disease, susceptibility to, 1 | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13734 | This alteration occurs within gene RET (ret proto-oncogene) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Multiple endocrine neoplasia type 2A | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13735 | Given a variant located on Chromosome 10 and affecting RET (ret proto-oncogene), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Multiple endocrine neoplasia, type 2 | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13736 | The variant affects gene RET (ret proto-oncogene), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary cancer-predisposing syndrome | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13737 | This alteration in RET (ret proto-oncogene) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Multiple endocrine neoplasia type 2B | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13738 | A variant on Chromosome 10 in gene RET (ret proto-oncogene) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Multiple endocrine neoplasia, type 2 | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13739 | Here’s a variant in RET (ret proto-oncogene) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary cancer-predisposing syndrome | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13740 | This alteration in RET (ret proto-oncogene) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Multiple endocrine neoplasia type 2A | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13741 | A variant on Chromosome 10 in gene RET (ret proto-oncogene) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial medullary thyroid carcinoma | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13742 | A sequence alteration has been identified in RET (ret proto-oncogene) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Hirschsprung disease, susceptibility to, 1 | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13743 | Given this variant in gene RET (ret proto-oncogene) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13744 | The gene RET (ret proto-oncogene), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Multiple endocrine neoplasia type 2A | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13745 | A mutation on Chromosome 10 affecting RET (ret proto-oncogene) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Multiple endocrine neoplasia type 2A | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13746 | A variant found in Chromosome 10 affects RET (ret proto-oncogene). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Multiple endocrine neoplasia type 2B | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13747 | A genetic alteration is present in RET (ret proto-oncogene) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hirschsprung disease, susceptibility to, 1 | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13748 | The gene RET (ret proto-oncogene) is located on Chromosome 10, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Pheochromocytoma | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13749 | The variant affects gene RET (ret proto-oncogene), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Familial medullary thyroid carcinoma | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13750 | A genomic change on Chromosome 10 affects RET (ret proto-oncogene). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Congenital central hypoventilation | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13751 | A genetic alteration is present in RET (ret proto-oncogene) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Multiple endocrine neoplasia, type 2 | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... | TGAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCT... |
Task1_train_13752 | This gene mutation involves RET (ret proto-oncogene) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... |
Task1_train_13753 | Here’s a variant in RET (ret proto-oncogene) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Multiple endocrine neoplasia, type 2 | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... |
Task1_train_13754 | A mutation in RET (ret proto-oncogene), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Multiple endocrine neoplasia type 2A | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... |
Task1_train_13755 | The following genetic variant occurs in RET (ret proto-oncogene) on Chromosome 10. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Multiple endocrine neoplasia, type 2 | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... |
Task1_train_13756 | A variant found in Chromosome 10 affects RET (ret proto-oncogene). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... |
Task1_train_13757 | Mutation context: Chromosome 10, Gene RET (ret proto-oncogene). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... |
Task1_train_13758 | Gene RET (ret proto-oncogene) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Multiple endocrine neoplasia type 2A | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... |
Task1_train_13759 | Given a variant located on Chromosome 10 and affecting RET (ret proto-oncogene), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Multiple endocrine neoplasia, type 2 | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... | GAGTGACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTG... |
Task1_train_13760 | A variant was discovered in gene RET (ret proto-oncogene), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Multiple endocrine neoplasia, type 2 | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13761 | A genomic change on Chromosome 10 affects RET (ret proto-oncogene). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13762 | Here is a genetic alteration in RET (ret proto-oncogene) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Multiple endocrine neoplasia type 2A | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13763 | Gene RET (ret proto-oncogene) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hirschsprung disease, susceptibility to, 1 | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13764 | A variant has been detected on Chromosome 10 in RET (ret proto-oncogene). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Multiple endocrine neoplasia, type 2 | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13765 | This sequence change occurs on Chromosome 10, altering RET (ret proto-oncogene). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hirschsprung disease | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13766 | Here is a variant affecting RET (ret proto-oncogene) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary cancer-predisposing syndrome | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13767 | The gene RET (ret proto-oncogene), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Multiple endocrine neoplasia, type 2 | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13768 | Given this variant in gene RET (ret proto-oncogene) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Multiple endocrine neoplasia type 2A | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13769 | This mutation occurs in RET (ret proto-oncogene) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13770 | Here is a variant affecting RET (ret proto-oncogene) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not specified | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13771 | The gene RET (ret proto-oncogene) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Multiple endocrine neoplasia, type 2 | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13772 | A variant has been detected on Chromosome 10 in RET (ret proto-oncogene). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hirschsprung disease | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13773 | The gene RET (ret proto-oncogene) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Multiple endocrine neoplasia, type 2 | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... | ACCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCC... |
Task1_train_13774 | Consider this mutation in RET (ret proto-oncogene) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary cancer-predisposing syndrome | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13775 | With a mutation on Chromosome 10 in gene RET (ret proto-oncogene), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Multiple endocrine neoplasia, type 2 | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13776 | This mutation occurs in RET (ret proto-oncogene) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Multiple endocrine neoplasia type 2A | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13777 | A variant was discovered in gene RET (ret proto-oncogene), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hirschsprung disease, susceptibility to, 1 | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13778 | This variant lies on Chromosome 10 and affects the gene RET (ret proto-oncogene). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pheochromocytoma | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13779 | A mutation in RET (ret proto-oncogene), located on Chromosome 10, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Multiple endocrine neoplasia type 2B | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13780 | Assess the clinical impact of this variant on gene RET (ret proto-oncogene), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Familial medullary thyroid carcinoma | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13781 | This alteration in RET (ret proto-oncogene) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Multiple endocrine neoplasia, type 2 | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13782 | A variant has been detected on Chromosome 10 in RET (ret proto-oncogene). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; MEN2 phenotype: Unclassified | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13783 | An alteration has been detected in RET (ret proto-oncogene) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13784 | This genomic variant is located on Chromosome 10, within the RET (ret proto-oncogene) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Multiple endocrine neoplasia type 2A | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13785 | Mutation context: Chromosome 10, Gene RET (ret proto-oncogene). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Multiple endocrine neoplasia, type 2 | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13786 | Consider a variant on Chromosome 10 in gene RET (ret proto-oncogene). Determine its clinical classification and disease relevance. | Pathogenic; Multiple endocrine neoplasia type 2B | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13787 | This alteration in RET (ret proto-oncogene) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Multiple endocrine neoplasia type 2A | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13788 | This genomic variant is located on Chromosome 10, within the RET (ret proto-oncogene) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13789 | Here’s a variant in RET (ret proto-oncogene) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Multiple endocrine neoplasia type 2A | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13790 | This variant affects gene RET (ret proto-oncogene) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; Hirschsprung disease, susceptibility to, 1 | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13791 | A variant on Chromosome 10 in gene RET (ret proto-oncogene) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pheochromocytoma | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13792 | The variant affects gene RET (ret proto-oncogene), which is on Chromosome 10. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Multiple endocrine neoplasia type 2B | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13793 | This gene mutation involves RET (ret proto-oncogene) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Familial medullary thyroid carcinoma | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... | CCCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCT... |
Task1_train_13794 | This variant lies on Chromosome 10 and affects the gene RET (ret proto-oncogene). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | CCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCTG... | CCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCTG... |
Task1_train_13795 | Given this variant in gene RET (ret proto-oncogene) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Multiple endocrine neoplasia, type 2 | CCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCTG... | CCAGCAGTAAATGGTTGCTCCTTCCAGATAACATACAGGACCTTGGGTAAATTTGAATTTTGGGTAAACAACAAGCAGTTTTTTGGTATAGGTGTGTTCCATGCAACTTTTGCAGCTTCTCGAAAGACACACCTCTAGGTCCATCCATGCCCTCTTAGGAACATGCTGACACAGCTGCCATTCATGCCATTCATTGTGTATCTGAAATGTAGGTCCCACAGGGCGTCGTTGGCTGAATCTGGCTGCACTCACATCCTTCCTCCTGTACTTACCCCAGCCCAGGTGACCCCTGCTTTGTGACCATGATGTCCTGTACCCTG... |
Task1_train_13796 | Gene RET (ret proto-oncogene) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | CACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGC... | CACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGC... |
Task1_train_13797 | This alteration occurs within gene RET (ret proto-oncogene) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; Multiple endocrine neoplasia, type 2 | CACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGC... | CACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGC... |
Task1_train_13798 | This is a variant in RET (ret proto-oncogene), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary cancer-predisposing syndrome | ACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCT... | ACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCT... |
Task1_train_13799 | Consider this mutation in RET (ret proto-oncogene) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Multiple endocrine neoplasia, type 2 | ACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCT... | ACTCTGGACTTGGGAAGGTCTGAACCAAAGTTGGGATGTGCTGGGGACAGAATGGCGTTTTTCTGGGAGGTCCTCGGCCAGGGGATGTGGTGTGGGCAGGGGACTCATTGTCTGCATCAGCCAGAGGCCAGCCTGGGTGTGCCCACCACCATGAGGGGCCCTCACCATGCAGCCCTGAGAGGGTCCCGGCCTCTTTGCTGTAAGGGCCACCTGTGTGAGGAACCCCCCATACCTCCTCTCCCATAAGCCATGGCTCCCCAGGATGCTTCCGCTGGCAAGGCTCTGTATATGGTGTTTCCCTACTCAGGCCTCCAGTTGCT... |
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