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_17200 | This variant affects gene KRAS (KRAS proto-oncogene, GTPase) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Noonan syndrome 3 | GGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGT... | GGCATTTCTGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGT... |
Task1_train_17201 | A genetic alteration is present in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; RASopathy | TGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGTAAAAAAAA... | TGATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGTAAAAAAAA... |
Task1_train_17202 | Given this context: Chromosome 12, gene KRAS (KRAS proto-oncogene, GTPase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | GATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGTAAAAAAAAA... | GATGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGTAAAAAAAAA... |
Task1_train_17203 | Consider this mutation in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Noonan syndrome 3 | TGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGTAAAAAAAAAAA... | TGTGACTCAGTGGGAAAACTTCATGGAGATATCCACAGCAGCAGTAAATCTTATGGTTAGGGGAATTACAAGTATTAAAACTGCATCAAGTCATGGGGCATGTGGAAGGTAGGGAGGCAAGATGACACTAATATGGAAGAAGAGTCCTAAAACGAGAATGGATATTCAAATATAAACTTCACCTCTTGCACAATTTTGCCCAAGACTGGCACTGAAGATGGTGTAACATAGGTTAAAAATTTACAGATTGTGCTGAGCTTGACAAATAAGTGTATCCTTATGTAAATGGAATATAAATTACATAGTTGTAAAAAAAAAAA... |
Task1_train_17204 | A genetic alteration is present in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Noonan syndrome 3 | AAATTCAGTTTTTAATCCTCCCAAAATGACTTGAAGTAGAATTTACTGTTTCTTTACTATATATCAAATTTGTATAACTAGGAAGAGGTACATATGCTCTCCTACTAGGGAAATACAACATATATATTAGCTGGATAATGATTTACATTTACATTTTTGCACCTTTATGAAATTTGATAAACTTCTAGAACGCTTGTTTTTAAATGTTTAACAATGTAAAAGTTGTTCAGCAATTTTTTTTAACTCCTAGCATTACAGAAGTTAATTTCTACAAAACTGGTTTTCTGGGCTCACAGGTAAATGTAACCAGAAAAAGCCCT... | AAATTCAGTTTTTAATCCTCCCAAAATGACTTGAAGTAGAATTTACTGTTTCTTTACTATATATCAAATTTGTATAACTAGGAAGAGGTACATATGCTCTCCTACTAGGGAAATACAACATATATATTAGCTGGATAATGATTTACATTTACATTTTTGCACCTTTATGAAATTTGATAAACTTCTAGAACGCTTGTTTTTAAATGTTTAACAATGTAAAAGTTGTTCAGCAATTTTTTTTAACTCCTAGCATTACAGAAGTTAATTTCTACAAAACTGGTTTTCTGGGCTCACAGGTAAATGTAACCAGAAAAAGCCCT... |
Task1_train_17205 | This is a variant in KRAS (KRAS proto-oncogene, GTPase), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Familial pancreatic carcinoma | TTCAGTTTTTAATCCTCCCAAAATGACTTGAAGTAGAATTTACTGTTTCTTTACTATATATCAAATTTGTATAACTAGGAAGAGGTACATATGCTCTCCTACTAGGGAAATACAACATATATATTAGCTGGATAATGATTTACATTTACATTTTTGCACCTTTATGAAATTTGATAAACTTCTAGAACGCTTGTTTTTAAATGTTTAACAATGTAAAAGTTGTTCAGCAATTTTTTTTAACTCCTAGCATTACAGAAGTTAATTTCTACAAAACTGGTTTTCTGGGCTCACAGGTAAATGTAACCAGAAAAAGCCCTAAA... | TTCAGTTTTTAATCCTCCCAAAATGACTTGAAGTAGAATTTACTGTTTCTTTACTATATATCAAATTTGTATAACTAGGAAGAGGTACATATGCTCTCCTACTAGGGAAATACAACATATATATTAGCTGGATAATGATTTACATTTACATTTTTGCACCTTTATGAAATTTGATAAACTTCTAGAACGCTTGTTTTTAAATGTTTAACAATGTAAAAGTTGTTCAGCAATTTTTTTTAACTCCTAGCATTACAGAAGTTAATTTCTACAAAACTGGTTTTCTGGGCTCACAGGTAAATGTAACCAGAAAAAGCCCTAAA... |
Task1_train_17206 | The following genetic variant occurs in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; RASopathy | TTCAGTTTTTAATCCTCCCAAAATGACTTGAAGTAGAATTTACTGTTTCTTTACTATATATCAAATTTGTATAACTAGGAAGAGGTACATATGCTCTCCTACTAGGGAAATACAACATATATATTAGCTGGATAATGATTTACATTTACATTTTTGCACCTTTATGAAATTTGATAAACTTCTAGAACGCTTGTTTTTAAATGTTTAACAATGTAAAAGTTGTTCAGCAATTTTTTTTAACTCCTAGCATTACAGAAGTTAATTTCTACAAAACTGGTTTTCTGGGCTCACAGGTAAATGTAACCAGAAAAAGCCCTAAA... | TTCAGTTTTTAATCCTCCCAAAATGACTTGAAGTAGAATTTACTGTTTCTTTACTATATATCAAATTTGTATAACTAGGAAGAGGTACATATGCTCTCCTACTAGGGAAATACAACATATATATTAGCTGGATAATGATTTACATTTACATTTTTGCACCTTTATGAAATTTGATAAACTTCTAGAACGCTTGTTTTTAAATGTTTAACAATGTAAAAGTTGTTCAGCAATTTTTTTTAACTCCTAGCATTACAGAAGTTAATTTCTACAAAACTGGTTTTCTGGGCTCACAGGTAAATGTAACCAGAAAAAGCCCTAAA... |
Task1_train_17207 | A variant on Chromosome 12 in gene KRAS (KRAS proto-oncogene, GTPase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neoplasm | ACATATGCTCTCCTACTAGGGAAATACAACATATATATTAGCTGGATAATGATTTACATTTACATTTTTGCACCTTTATGAAATTTGATAAACTTCTAGAACGCTTGTTTTTAAATGTTTAACAATGTAAAAGTTGTTCAGCAATTTTTTTTAACTCCTAGCATTACAGAAGTTAATTTCTACAAAACTGGTTTTCTGGGCTCACAGGTAAATGTAACCAGAAAAAGCCCTAAACAAATTGATGGAATATAGATGGATCAATTTCTTAGTACAGTCATGTACCACATAATGACATTTTGGTCCACAGGAGATTGCATATG... | ACATATGCTCTCCTACTAGGGAAATACAACATATATATTAGCTGGATAATGATTTACATTTACATTTTTGCACCTTTATGAAATTTGATAAACTTCTAGAACGCTTGTTTTTAAATGTTTAACAATGTAAAAGTTGTTCAGCAATTTTTTTTAACTCCTAGCATTACAGAAGTTAATTTCTACAAAACTGGTTTTCTGGGCTCACAGGTAAATGTAACCAGAAAAAGCCCTAAACAAATTGATGGAATATAGATGGATCAATTTCTTAGTACAGTCATGTACCACATAATGACATTTTGGTCCACAGGAGATTGCATATG... |
Task1_train_17208 | With a mutation on Chromosome 12 in gene KRAS (KRAS proto-oncogene, GTPase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | ACATATGCTCTCCTACTAGGGAAATACAACATATATATTAGCTGGATAATGATTTACATTTACATTTTTGCACCTTTATGAAATTTGATAAACTTCTAGAACGCTTGTTTTTAAATGTTTAACAATGTAAAAGTTGTTCAGCAATTTTTTTTAACTCCTAGCATTACAGAAGTTAATTTCTACAAAACTGGTTTTCTGGGCTCACAGGTAAATGTAACCAGAAAAAGCCCTAAACAAATTGATGGAATATAGATGGATCAATTTCTTAGTACAGTCATGTACCACATAATGACATTTTGGTCCACAGGAGATTGCATATG... | ACATATGCTCTCCTACTAGGGAAATACAACATATATATTAGCTGGATAATGATTTACATTTACATTTTTGCACCTTTATGAAATTTGATAAACTTCTAGAACGCTTGTTTTTAAATGTTTAACAATGTAAAAGTTGTTCAGCAATTTTTTTTAACTCCTAGCATTACAGAAGTTAATTTCTACAAAACTGGTTTTCTGGGCTCACAGGTAAATGTAACCAGAAAAAGCCCTAAACAAATTGATGGAATATAGATGGATCAATTTCTTAGTACAGTCATGTACCACATAATGACATTTTGGTCCACAGGAGATTGCATATG... |
Task1_train_17209 | A mutation on Chromosome 12 affecting KRAS (KRAS proto-oncogene, GTPase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cardiofaciocutaneous syndrome 2 | AAAAATTTGTTGCCCTGTTCTTTATATATATATATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAAC... | AAAAATTTGTTGCCCTGTTCTTTATATATATATATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAAC... |
Task1_train_17210 | A variant was discovered in gene KRAS (KRAS proto-oncogene, GTPase), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Non-small cell lung carcinoma | ATATATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTAC... | ATATATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTAC... |
Task1_train_17211 | A variant was discovered on Chromosome 12, affecting KRAS (KRAS proto-oncogene, GTPase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neoplasm | ATATATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTAC... | ATATATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTAC... |
Task1_train_17212 | This mutation occurs in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Non-small cell lung carcinoma | TATATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACC... | TATATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACC... |
Task1_train_17213 | This variant impacts the gene KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cardio-facio-cutaneous syndrome | ATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACCTGT... | ATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACCTGT... |
Task1_train_17214 | Located on Chromosome 12, this mutation impacts KRAS (KRAS proto-oncogene, GTPase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; RASopathy | ATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACCTGT... | ATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACCTGT... |
Task1_train_17215 | A variant affecting Chromosome 12, within the gene KRAS (KRAS proto-oncogene, GTPase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Noonan syndrome 3 | ATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACCTGT... | ATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACCTGT... |
Task1_train_17216 | The gene KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cardiofaciocutaneous syndrome 2 | ATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACCTGT... | ATATATATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACCTGT... |
Task1_train_17217 | Gene KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Noonan syndrome | TATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACCTGTCTTGT... | TATATATATATATATATATATATATATATATATGTAACCATGGGAAAAAAAAATCCCCACCTCTTGAATTCTAAATGTTAACATGTGCTCAGAATTGAAGAGAAATTTTCAATGTAGAAAGAAACCAAAGCCAAAAGCAGTACCATGGACACTGGATTAAGAAGCAATGCCCTCTCAAGAGACAAAAACATTTACTAAATATTGTTTTATTTCCTAGTATAGCATAATTGAGAGAAAAACTGATATATTAAATGACATAACAGTTATGATTTTGCAGAAAACAGATCTGTATTTATTTCAGTGTTACTTACCTGTCTTGT... |
Task1_train_17218 | A sequence alteration has been identified in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Noonan syndrome | CTACACCAAGAACTTAATGTAATGTGTCAGTTCCCTCAGAGACTCACTGTAACTTGGGAGATAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATC... | CTACACCAAGAACTTAATGTAATGTGTCAGTTCCCTCAGAGACTCACTGTAACTTGGGAGATAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATC... |
Task1_train_17219 | The gene KRAS (KRAS proto-oncogene, GTPase) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CAGAGACTCACTGTAACTTGGGAGATAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGC... | CAGAGACTCACTGTAACTTGGGAGATAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGC... |
Task1_train_17220 | The gene KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; RASopathy | CAGAGACTCACTGTAACTTGGGAGATAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGC... | CAGAGACTCACTGTAACTTGGGAGATAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGC... |
Task1_train_17221 | A variant found in Chromosome 12 affects KRAS (KRAS proto-oncogene, GTPase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; RASopathy | AGAGACTCACTGTAACTTGGGAGATAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCA... | AGAGACTCACTGTAACTTGGGAGATAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCA... |
Task1_train_17222 | This mutation occurs in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Noonan syndrome 3 | GTAACTTGGGAGATAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTC... | GTAACTTGGGAGATAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTC... |
Task1_train_17223 | This variant affects the gene KRAS (KRAS proto-oncogene, GTPase) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; RASopathy | TAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAA... | TAAGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAA... |
Task1_train_17224 | Mutation context: Chromosome 12, Gene KRAS (KRAS proto-oncogene, GTPase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Non-small cell lung carcinoma | AGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAG... | AGAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAG... |
Task1_train_17225 | Here is a mutation in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Non-small cell lung carcinoma | GAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGT... | GAGATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGT... |
Task1_train_17226 | Gene KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Juvenile myelomonocytic leukemia | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17227 | Gene KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Non-small cell lung carcinoma | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17228 | This mutation occurs in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Linear nevus sebaceous syndrome | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17229 | This mutation is located in gene KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cerebral arteriovenous malformation | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17230 | Given this context: Chromosome 12, gene KRAS (KRAS proto-oncogene, GTPase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; RASopathy | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17231 | The gene KRAS (KRAS proto-oncogene, GTPase) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neoplasm | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17232 | Chromosome 12 houses a mutation in gene KRAS (KRAS proto-oncogene, GTPase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; KRAS-related overgrowth | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17233 | Gene KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; RASopathy | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17234 | This sequence variant lies in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cardiovascular phenotype | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17235 | Given this variant in gene KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Linear nevus sebaceous syndrome | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17236 | With a mutation on Chromosome 12 in gene KRAS (KRAS proto-oncogene, GTPase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cardiofaciocutaneous syndrome 2 | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17237 | A sequence alteration has been identified in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Autoimmune lymphoproliferative syndrome type 4 | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17238 | Mutation context: Chromosome 12, Gene KRAS (KRAS proto-oncogene, GTPase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Noonan syndrome 3 | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17239 | A genetic alteration is present in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Familial cancer of breast | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17240 | This variant affects the gene KRAS (KRAS proto-oncogene, GTPase) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Gastric cancer | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17241 | This sequence change occurs on Chromosome 12, altering KRAS (KRAS proto-oncogene, GTPase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Acute myeloid leukemia | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17242 | Given this variant in gene KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Malignant tumor of urinary bladder | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17243 | Gene KRAS (KRAS proto-oncogene, GTPase), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cerebral arteriovenous malformation | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17244 | Chromosome 12 houses a mutation in gene KRAS (KRAS proto-oncogene, GTPase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Toriello-Lacassie-Droste syndrome | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17245 | This alteration in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Lung cancer | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17246 | This variant impacts the gene KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial pancreatic carcinoma | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17247 | A variant was discovered in gene KRAS (KRAS proto-oncogene, GTPase), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Linear nevus sebaceous syndrome | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17248 | Here is a mutation in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cerebral arteriovenous malformation | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17249 | Consider a variant on Chromosome 12 in gene KRAS (KRAS proto-oncogene, GTPase). Determine its clinical classification and disease relevance. | Pathogenic; Congenital Pulmonary Airway Malformations | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17250 | This alteration occurs within gene KRAS (KRAS proto-oncogene, GTPase) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Autoimmune lymphoproliferative syndrome type 4 | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17251 | Consider a variant on Chromosome 12 in gene KRAS (KRAS proto-oncogene, GTPase). Determine its clinical classification and disease relevance. | Pathogenic; Neoplasm | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... | GATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGT... |
Task1_train_17252 | This variant lies on Chromosome 12 and affects the gene KRAS (KRAS proto-oncogene, GTPase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cardiofaciocutaneous syndrome 2 | ATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTA... | ATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTA... |
Task1_train_17253 | The variant affects gene KRAS (KRAS proto-oncogene, GTPase), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Non-small cell lung carcinoma | ATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTA... | ATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTA... |
Task1_train_17254 | A variant found in Chromosome 12 affects KRAS (KRAS proto-oncogene, GTPase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Vascular malformation | ATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTA... | ATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTA... |
Task1_train_17255 | This alteration occurs within gene KRAS (KRAS proto-oncogene, GTPase) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; RASopathy | ATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTA... | ATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTA... |
Task1_train_17256 | A genetic alteration is present in KRAS (KRAS proto-oncogene, GTPase) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neoplasm | ATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTA... | ATAATCTCAGATACCTTTTCCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTA... |
Task1_train_17257 | Here’s a variant in KRAS (KRAS proto-oncogene, GTPase) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; RASopathy | CCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTAATGGAATTTCTCAGATTTT... | CCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTAATGGAATTTCTCAGATTTT... |
Task1_train_17258 | Chromosome 12 houses a mutation in gene KRAS (KRAS proto-oncogene, GTPase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTAATGGAATTTCTCAGATTTT... | CCCAGGTGACTAAACTACGTCAGGGACCGTCAGTTTCAAAGTTCACAGGTAACCAATGCTTCCCAGAGTCAAGTCTTCTGGTTTGGCAGAAATCATAAGCAGAGTTATAGGTTTAAGTTTATAAACTTTTTCAGCCTTCCGCCCAAATAAAGGCTTAACTGTTAGCTTTATTTCTTCAACATTTATATTGCATTTTAACAATCATTAGCAAAAGGTTTCCTAACCCACTTTATCACATTCATGACGTCATGCTGTATATACTCATATAGCACTCATGACCTCTGATTGGAAACAAAGTGTAATGGAATTTCTCAGATTTT... |
Task1_train_17259 | This variant impacts the gene ITPR2 (inositol 1,4,5-trisphosphate receptor type 2) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Isolated anhidrosis with normal sweat glands | GAGAAATTAAAAACTGAGAGAAGGGCCGGGTGCGGTGGCTTACACCTGCAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGGCTCTACTGAAAATACAAAAATTAGCCAGGTGTGGTGGTACATGCCTGCAGTCCCAGCTACTAGGGAGGCTGAGGTAGAAGAATCACTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTAACAGAGCGAGACTCCATCTCAAAATAACAAACAAA... | GAGAAATTAAAAACTGAGAGAAGGGCCGGGTGCGGTGGCTTACACCTGCAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGGCTCTACTGAAAATACAAAAATTAGCCAGGTGTGGTGGTACATGCCTGCAGTCCCAGCTACTAGGGAGGCTGAGGTAGAAGAATCACTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTAACAGAGCGAGACTCCATCTCAAAATAACAAACAAA... |
Task1_train_17260 | Given a variant located on Chromosome 12 and affecting PTHLH (parathyroid hormone like hormone), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Brachydactyly type E2 | GGTTTGTTACCCTTTAGAGATCCATTAGATGTTTGCAGGATAGGTCATTCACTGTGCTCAAGATTTTTCTAGTGCCACTGCCCATTGATTACTGAAGCTGTACTACTTATCCCATATGATTGCTATTTTATGTGCTATTTAATGATGGGTTTGCCAGCTTAAAGAGACAAATAATGGTGAATAGGTTCAAGGTCCCCTTTGAAGCATCATCCTATAATCCTATCTGTAGCAGAGTCAAAGGAAATGACTAAAGAAGTAACAGGGGACTCTTAAATAATGAGATCATTAGTTGCATATGATGTGTTCTTCTGTTGTTTTCC... | GGTTTGTTACCCTTTAGAGATCCATTAGATGTTTGCAGGATAGGTCATTCACTGTGCTCAAGATTTTTCTAGTGCCACTGCCCATTGATTACTGAAGCTGTACTACTTATCCCATATGATTGCTATTTTATGTGCTATTTAATGATGGGTTTGCCAGCTTAAAGAGACAAATAATGGTGAATAGGTTCAAGGTCCCCTTTGAAGCATCATCCTATAATCCTATCTGTAGCAGAGTCAAAGGAAATGACTAAAGAAGTAACAGGGGACTCTTAAATAATGAGATCATTAGTTGCATATGATGTGTTCTTCTGTTGTTTTCC... |
Task1_train_17261 | A variant found in Chromosome 12 affects PTHLH (parathyroid hormone like hormone). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Brachydactyly type E2 | TCACTGTGCTCAAGATTTTTCTAGTGCCACTGCCCATTGATTACTGAAGCTGTACTACTTATCCCATATGATTGCTATTTTATGTGCTATTTAATGATGGGTTTGCCAGCTTAAAGAGACAAATAATGGTGAATAGGTTCAAGGTCCCCTTTGAAGCATCATCCTATAATCCTATCTGTAGCAGAGTCAAAGGAAATGACTAAAGAAGTAACAGGGGACTCTTAAATAATGAGATCATTAGTTGCATATGATGTGTTCTTCTGTTGTTTTCCTTTTTTTTTTTCAAACCCCACAGAAGTGCTGTACTGAAAAGTGAAAAG... | TCACTGTGCTCAAGATTTTTCTAGTGCCACTGCCCATTGATTACTGAAGCTGTACTACTTATCCCATATGATTGCTATTTTATGTGCTATTTAATGATGGGTTTGCCAGCTTAAAGAGACAAATAATGGTGAATAGGTTCAAGGTCCCCTTTGAAGCATCATCCTATAATCCTATCTGTAGCAGAGTCAAAGGAAATGACTAAAGAAGTAACAGGGGACTCTTAAATAATGAGATCATTAGTTGCATATGATGTGTTCTTCTGTTGTTTTCCTTTTTTTTTTTCAAACCCCACAGAAGTGCTGTACTGAAAAGTGAAAAG... |
Task1_train_17262 | A variant was discovered in gene PTHLH (parathyroid hormone like hormone), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Brachydactyly type E2 | TTCTAAAGCAGTTTCCCTAATACTTGGTGTGAAAACCGGGGAGTAATATGGTTTGATTATATGTTAAAATTTCTTTCAAGAAACTAGCTTGATTTAGCATAATGGTAGACTTATGTTTTGTCTAGCACACAAAATTTACTGTTACTTGGCAGCAAGACAAAAATAATGACTTGTTTTTAAAAACTCCATTTGGCTATGATAATTTGATGAAACATCTTCATCTACTGATGATTTCAGCCTCCATGAAAAACCATGCCTGTAATGTGATGATCTATTACCCATTAACTATGAGAATGTTTTGTGGTAGTTTTATAACCATC... | TTCTAAAGCAGTTTCCCTAATACTTGGTGTGAAAACCGGGGAGTAATATGGTTTGATTATATGTTAAAATTTCTTTCAAGAAACTAGCTTGATTTAGCATAATGGTAGACTTATGTTTTGTCTAGCACACAAAATTTACTGTTACTTGGCAGCAAGACAAAAATAATGACTTGTTTTTAAAAACTCCATTTGGCTATGATAATTTGATGAAACATCTTCATCTACTGATGATTTCAGCCTCCATGAAAAACCATGCCTGTAATGTGATGATCTATTACCCATTAACTATGAGAATGTTTTGTGGTAGTTTTATAACCATC... |
Task1_train_17263 | This mutation is located in gene DDX11 (DEAD/H-box helicase 11) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Warsaw breakage syndrome | CAGCTTCAGGCCATGGGATGCAGGGCTGGCTTCCCTGCCAACGCCTGGCGCTGATGGATTCTTCCCGCATTGCTGGGAAGGGCAGACTGAGGCACTGACACAAGAAGAGTTGTAGCTGGTCATAAGTGACAGCATCCTCTGTTCACTCGATTGGTCAGTTGTAGCTTCATCCAGGAGATGGTCATGGGGTTCCTGCTGCATACCAAGCTCTAGGTGAGGCCACGGGGACTCAGCAGAAACAAGGCCGACCTGGGTCCTCCCTTGTGGACATGACAGTCTGGGGAGATAGACCGAGAGGAAGCGATTTTGAATGAGATGGG... | CAGCTTCAGGCCATGGGATGCAGGGCTGGCTTCCCTGCCAACGCCTGGCGCTGATGGATTCTTCCCGCATTGCTGGGAAGGGCAGACTGAGGCACTGACACAAGAAGAGTTGTAGCTGGTCATAAGTGACAGCATCCTCTGTTCACTCGATTGGTCAGTTGTAGCTTCATCCAGGAGATGGTCATGGGGTTCCTGCTGCATACCAAGCTCTAGGTGAGGCCACGGGGACTCAGCAGAAACAAGGCCGACCTGGGTCCTCCCTTGTGGACATGACAGTCTGGGGAGATAGACCGAGAGGAAGCGATTTTGAATGAGATGGG... |
Task1_train_17264 | This sequence variant lies in FGD4 (FYVE, RhoGEF and PH domain containing 4) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Charcot-Marie-Tooth disease type 4 | GATATGAAGTTTGTACCTTTGAAACAACTTTCTTCCTTATGGGAATTACAGACCTGAAATTTTAGATATTCCCATAGTGGAGATATTTCTTTTCTCTTATCAAGTTGTGTGGTTTTCTAAAGCCAAATAACTCGTCAGCCACTGCTGCTGACCTTTTAGAATTCTAGAGTCCTAATTACTATAGTAACCTAACTATTGGAGCCTCTAAGGACATAATTTTTTGTTCTTTTTGCCTCTCAAGAAAATAGAGTGGAGGTGAATTTAGAAAATTAACAACCATCTGGACATTATGAAGGAATAGACCTCCTTCTGCCTACATG... | GATATGAAGTTTGTACCTTTGAAACAACTTTCTTCCTTATGGGAATTACAGACCTGAAATTTTAGATATTCCCATAGTGGAGATATTTCTTTTCTCTTATCAAGTTGTGTGGTTTTCTAAAGCCAAATAACTCGTCAGCCACTGCTGCTGACCTTTTAGAATTCTAGAGTCCTAATTACTATAGTAACCTAACTATTGGAGCCTCTAAGGACATAATTTTTTGTTCTTTTTGCCTCTCAAGAAAATAGAGTGGAGGTGAATTTAGAAAATTAACAACCATCTGGACATTATGAAGGAATAGACCTCCTTCTGCCTACATG... |
Task1_train_17265 | This mutation occurs in DNM1L (dynamin 1 like) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Optic atrophy 5 | TGCACCACCACGACAGGCAAGCTAATTTTTTTGTATTTTTTGTAGAGACTGGGTTTTGCCGTGTTGCCCAGGCTGGCCTTGAACTCCTGACCTCAAGTGATCTGCCCGTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAATGCACCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACGGTGCCTGGCCTCTCCTCACCTGCTTTAA... | TGCACCACCACGACAGGCAAGCTAATTTTTTTGTATTTTTTGTAGAGACTGGGTTTTGCCGTGTTGCCCAGGCTGGCCTTGAACTCCTGACCTCAAGTGATCTGCCCGTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAATGCACCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACGGTGCCTGGCCTCTCCTCACCTGCTTTAA... |
Task1_train_17266 | This mutation occurs in DNM1L (dynamin 1 like) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | CTTTATTATAAACTAATAAGAAATATATAAAAGGCTAGCATTTGAATAAGCAGATCACTAAAGGAGAAATACAGAAAGCCATTAAAGAAAAGGATGCTTGACCTTAATAATAAAGGAATGTAAATTTAAATGAGCTGTCGGTATCCATCTATCAAAGTAGCAAAGATTCAAAAAACAATGCTTTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAAACCAGCCTGGCGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACCGCTGGGCGTGGTGTCACACGCCTGTAATCTCAGCTACTTGGG... | CTTTATTATAAACTAATAAGAAATATATAAAAGGCTAGCATTTGAATAAGCAGATCACTAAAGGAGAAATACAGAAAGCCATTAAAGAAAAGGATGCTTGACCTTAATAATAAAGGAATGTAAATTTAAATGAGCTGTCGGTATCCATCTATCAAAGTAGCAAAGATTCAAAAAACAATGCTTTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAAACCAGCCTGGCGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACCGCTGGGCGTGGTGTCACACGCCTGTAATCTCAGCTACTTGGG... |
Task1_train_17267 | Mutation context: Chromosome 12, Gene DNM1L (dynamin 1 like). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | AAACTAATAAGAAATATATAAAAGGCTAGCATTTGAATAAGCAGATCACTAAAGGAGAAATACAGAAAGCCATTAAAGAAAAGGATGCTTGACCTTAATAATAAAGGAATGTAAATTTAAATGAGCTGTCGGTATCCATCTATCAAAGTAGCAAAGATTCAAAAAACAATGCTTTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAAACCAGCCTGGCGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACCGCTGGGCGTGGTGTCACACGCCTGTAATCTCAGCTACTTGGGAGGCTGAGG... | AAACTAATAAGAAATATATAAAAGGCTAGCATTTGAATAAGCAGATCACTAAAGGAGAAATACAGAAAGCCATTAAAGAAAAGGATGCTTGACCTTAATAATAAAGGAATGTAAATTTAAATGAGCTGTCGGTATCCATCTATCAAAGTAGCAAAGATTCAAAAAACAATGCTTTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAAACCAGCCTGGCGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACCGCTGGGCGTGGTGTCACACGCCTGTAATCTCAGCTACTTGGGAGGCTGAGG... |
Task1_train_17268 | A variant was discovered in gene DNM1L (dynamin 1 like), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | ACAGAAAGCCATTAAAGAAAAGGATGCTTGACCTTAATAATAAAGGAATGTAAATTTAAATGAGCTGTCGGTATCCATCTATCAAAGTAGCAAAGATTCAAAAAACAATGCTTTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAAACCAGCCTGGCGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACCGCTGGGCGTGGTGTCACACGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAGGTAGAGGTTGCAGAGAGCCAAGATGGTGCCACTGCA... | ACAGAAAGCCATTAAAGAAAAGGATGCTTGACCTTAATAATAAAGGAATGTAAATTTAAATGAGCTGTCGGTATCCATCTATCAAAGTAGCAAAGATTCAAAAAACAATGCTTTGGGAGGCTGAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAAACCAGCCTGGCGCACATGGTGAAACCCTGTCTCTACTAAAAATACAAAACCGCTGGGCGTGGTGTCACACGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAGGTAGAGGTTGCAGAGAGCCAAGATGGTGCCACTGCA... |
Task1_train_17269 | A change on Chromosome 12 affects gene DNM1L (dynamin 1 like). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Optic atrophy 5 | GCCCCAGAGCTCAGTTTATGGAACTCTCGTTTTCTCTAGGTACACTTTCCCTTTGATGATTTCATCAGATTTTATGGCTTTAACTACGTAAGGCTCTGTATATTGACGGCATTCAAATATCTCCAGACTTGTATATCTAGTTGCTATTCGACATATACACTTAAATGTCTAATAGACATTTCAAACTCTAATACCGAATTCCTGACCTGTTCCTCAACTAGATTTGGTATTTCTATAGTCTTCCCCCATCGCAATAAATGGCAACTCATGCCATTTATTGGCAACTCATAAAAAAGCTGAGTTGATTTTTAATTGTTAGT... | GCCCCAGAGCTCAGTTTATGGAACTCTCGTTTTCTCTAGGTACACTTTCCCTTTGATGATTTCATCAGATTTTATGGCTTTAACTACGTAAGGCTCTGTATATTGACGGCATTCAAATATCTCCAGACTTGTATATCTAGTTGCTATTCGACATATACACTTAAATGTCTAATAGACATTTCAAACTCTAATACCGAATTCCTGACCTGTTCCTCAACTAGATTTGGTATTTCTATAGTCTTCCCCCATCGCAATAAATGGCAACTCATGCCATTTATTGGCAACTCATAAAAAAGCTGAGTTGATTTTTAATTGTTAGT... |
Task1_train_17270 | This sequence variant lies in DNM1L (dynamin 1 like) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | TTTATTAGAGATGAGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCATGAACACGTGATCCACCTGCCCTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGTCCCCCTTTTTTTGAGACAGTCTCACTCTATTGCCCAAACTGGAGTGTAGTGGCGTGATCTCGGCTCACTGCAAACTCCACCTCCTGGGTTCAAGTGATTCTCCCGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACTACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGCTGG... | TTTATTAGAGATGAGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCATGAACACGTGATCCACCTGCCCTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGTCCCCCTTTTTTTGAGACAGTCTCACTCTATTGCCCAAACTGGAGTGTAGTGGCGTGATCTCGGCTCACTGCAAACTCCACCTCCTGGGTTCAAGTGATTCTCCCGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACTACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGCTGG... |
Task1_train_17271 | Gene DNM1L (dynamin 1 like) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | CATGAGCCACTGTGCCCAGTCCCCCTTTTTTTGAGACAGTCTCACTCTATTGCCCAAACTGGAGTGTAGTGGCGTGATCTCGGCTCACTGCAAACTCCACCTCCTGGGTTCAAGTGATTCTCCCGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACTACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCCGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGAAATTCTT... | CATGAGCCACTGTGCCCAGTCCCCCTTTTTTTGAGACAGTCTCACTCTATTGCCCAAACTGGAGTGTAGTGGCGTGATCTCGGCTCACTGCAAACTCCACCTCCTGGGTTCAAGTGATTCTCCCGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGCACTACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCCGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGAAATTCTT... |
Task1_train_17272 | The gene DNM1L (dynamin 1 like), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Inborn genetic diseases | CTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGAAATTCTTATCTATTAAGCAATTACTCATTCCCCTCTCCTCCCTCCAGCCCTGGTAACCTCTAATTTAATTAATTAATTACTTTATTACTTTGAGACAGAGCCTCACTTTATTGCCGAGGCTGGAATGCAGTGGCACAGTTTGGGCCAGTCTCTGCCTCCCAGGTTCAAGCAATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTGTTTGC... | CTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGAAATTCTTATCTATTAAGCAATTACTCATTCCCCTCTCCTCCCTCCAGCCCTGGTAACCTCTAATTTAATTAATTAATTACTTTATTACTTTGAGACAGAGCCTCACTTTATTGCCGAGGCTGGAATGCAGTGGCACAGTTTGGGCCAGTCTCTGCCTCCCAGGTTCAAGCAATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTGTTTGC... |
Task1_train_17273 | Here is a variant affecting DNM1L (dynamin 1 like) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | CTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGAAATTCTTATCTATTAAGCAATTACTCATTCCCCTCTCCTCCCTCCAGCCCTGGTAACCTCTAATTTAATTAATTAATTACTTTATTACTTTGAGACAGAGCCTCACTTTATTGCCGAGGCTGGAATGCAGTGGCACAGTTTGGGCCAGTCTCTGCCTCCCAGGTTCAAGCAATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTGTTTGC... | CTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGAAATTCTTATCTATTAAGCAATTACTCATTCCCCTCTCCTCCCTCCAGCCCTGGTAACCTCTAATTTAATTAATTAATTACTTTATTACTTTGAGACAGAGCCTCACTTTATTGCCGAGGCTGGAATGCAGTGGCACAGTTTGGGCCAGTCTCTGCCTCCCAGGTTCAAGCAATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTGTTTGC... |
Task1_train_17274 | This sequence variant lies in DNM1L (dynamin 1 like) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Optic atrophy 5 | CTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGAAATTCTTATCTATTAAGCAATTACTCATTCCCCTCTCCTCCCTCCAGCCCTGGTAACCTCTAATTTAATTAATTAATTACTTTATTACTTTGAGACAGAGCCTCACTTTATTGCCGAGGCTGGAATGCAGTGGCACAGTTTGGGCCAGTCTCTGCCTCCCAGGTTCAAGCAATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTGTTTGC... | CTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGAAATTCTTATCTATTAAGCAATTACTCATTCCCCTCTCCTCCCTCCAGCCCTGGTAACCTCTAATTTAATTAATTAATTACTTTATTACTTTGAGACAGAGCCTCACTTTATTGCCGAGGCTGGAATGCAGTGGCACAGTTTGGGCCAGTCTCTGCCTCCCAGGTTCAAGCAATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTGTTTGC... |
Task1_train_17275 | A variant on Chromosome 12 in gene DNM1L (dynamin 1 like) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | CTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGAAATTCTTATCTATTAAGCAATTACTCATTCCCCTCTCCTCCCTCCAGCCCTGGTAACCTCTAATTTAATTAATTAATTACTTTATTACTTTGAGACAGAGCCTCACTTTATTGCCGAGGCTGGAATGCAGTGGCACAGTTTGGGCCAGTCTCTGCCTCCCAGGTTCAAGCAATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTGTTTGC... | CTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCAGCCGAAATTCTTATCTATTAAGCAATTACTCATTCCCCTCTCCTCCCTCCAGCCCTGGTAACCTCTAATTTAATTAATTAATTACTTTATTACTTTGAGACAGAGCCTCACTTTATTGCCGAGGCTGGAATGCAGTGGCACAGTTTGGGCCAGTCTCTGCCTCCCAGGTTCAAGCAATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTGTTTGC... |
Task1_train_17276 | The variant affects gene DNM1L (dynamin 1 like), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Optic atrophy 5 | GCAATTACTCATTCCCCTCTCCTCCCTCCAGCCCTGGTAACCTCTAATTTAATTAATTAATTACTTTATTACTTTGAGACAGAGCCTCACTTTATTGCCGAGGCTGGAATGCAGTGGCACAGTTTGGGCCAGTCTCTGCCTCCCAGGTTCAAGCAATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTGTTTGCATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTTC... | GCAATTACTCATTCCCCTCTCCTCCCTCCAGCCCTGGTAACCTCTAATTTAATTAATTAATTACTTTATTACTTTGAGACAGAGCCTCACTTTATTGCCGAGGCTGGAATGCAGTGGCACAGTTTGGGCCAGTCTCTGCCTCCCAGGTTCAAGCAATCATCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACACCTGGCTAATTTTTGTATTTGTTTGCATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTTC... |
Task1_train_17277 | This mutation occurs in YARS2 (tyrosyl-tRNA synthetase 2) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Myopathy, lactic acidosis, and sideroblastic anemia 2 | AAAAAACAAAAACAAAAACTTACGATGCACTTTTCTCCAGCACATCAGATTTCAAATTGAAAATTAAAGACATGCTATGGTAATGCACTTGCTAGTACTACACACTTTGTACAACAAAAAACAGAGGCAAGAAACAACGGAAAGAGAAAAGCCTTCCTTTGTTGGCCCTTAAACTGAGTCAAGATCTGAAATGTAGAGATGATCTCTGACGATACCTGTATGTTCTTATTGTGTAAATAAAATTGCTGGTATGAAATGACACTAAAGTTTGTCAAAAAATGAATTCTTAACTTTTCTCCCAGAGAAAGGGAGACAAAAGG... | AAAAAACAAAAACAAAAACTTACGATGCACTTTTCTCCAGCACATCAGATTTCAAATTGAAAATTAAAGACATGCTATGGTAATGCACTTGCTAGTACTACACACTTTGTACAACAAAAAACAGAGGCAAGAAACAACGGAAAGAGAAAAGCCTTCCTTTGTTGGCCCTTAAACTGAGTCAAGATCTGAAATGTAGAGATGATCTCTGACGATACCTGTATGTTCTTATTGTGTAAATAAAATTGCTGGTATGAAATGACACTAAAGTTTGTCAAAAAATGAATTCTTAACTTTTCTCCCAGAGAAAGGGAGACAAAAGG... |
Task1_train_17278 | Located on Chromosome 12, this mutation impacts YARS2 (tyrosyl-tRNA synthetase 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Mitochondrial disease | CGTGGCTAGATCTTGGAAGTCCTTAAGAAAGAAAAATGGTGGTTTTCTCTCATCTGAATGTTACCAAATAAAATTAAGAAACCACTACTGGACATGGTTTTAAAGATATTTTTATACCTTTATTTTTGGGTAGAGACGGAGTCTCACTACGTCCTTGCCCACACAGATCTTGAACTCCTGGCCCCAAGCAATCCTCCCGCCCTCAGCCTCCCGAAGTGCTGGGATTACAAATGTGAGCCACCATACCTGGCCATGGACATGGTTTTATAAAACTCATCAGTAAAATATTTTCTACTTAAGGCCAGATTCCTTTCTTTTAG... | CGTGGCTAGATCTTGGAAGTCCTTAAGAAAGAAAAATGGTGGTTTTCTCTCATCTGAATGTTACCAAATAAAATTAAGAAACCACTACTGGACATGGTTTTAAAGATATTTTTATACCTTTATTTTTGGGTAGAGACGGAGTCTCACTACGTCCTTGCCCACACAGATCTTGAACTCCTGGCCCCAAGCAATCCTCCCGCCCTCAGCCTCCCGAAGTGCTGGGATTACAAATGTGAGCCACCATACCTGGCCATGGACATGGTTTTATAAAACTCATCAGTAAAATATTTTCTACTTAAGGCCAGATTCCTTTCTTTTAG... |
Task1_train_17279 | Gene YARS2 (tyrosyl-tRNA synthetase 2) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Myopathy, lactic acidosis, and sideroblastic anemia 2 | AATGGGAGTGAGATTCTGTTTCAAAAAATACAAAAAAGAACTGATATTATTTTTGTACTATGAATATGGTCTAACTCTCCATTTATGTAGGTCTTTATTTTGCTCAATAGCATCTTTTAATATTTTGCAGGAAAGTCATATACCTTTTAAGTCTTAAAGAATTATTCCTAGATTACTTTGATGTTACAGAGCATCAAAATATTTTTTTCACTTTTTGTTGCAGGTATATTTGTTTCTCATTAATTCATATTCTTCCAAGAGTTTAAGGCAATTTGATTTAAGGAGAAATCATTTCTTAAGAGGATCTTTAAAGTCATATT... | AATGGGAGTGAGATTCTGTTTCAAAAAATACAAAAAAGAACTGATATTATTTTTGTACTATGAATATGGTCTAACTCTCCATTTATGTAGGTCTTTATTTTGCTCAATAGCATCTTTTAATATTTTGCAGGAAAGTCATATACCTTTTAAGTCTTAAAGAATTATTCCTAGATTACTTTGATGTTACAGAGCATCAAAATATTTTTTTCACTTTTTGTTGCAGGTATATTTGTTTCTCATTAATTCATATTCTTCCAAGAGTTTAAGGCAATTTGATTTAAGGAGAAATCATTTCTTAAGAGGATCTTTAAAGTCATATT... |
Task1_train_17280 | This mutation is located in gene YARS2 (tyrosyl-tRNA synthetase 2) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | AAAGTTGGCTCTACATTTTCTAGCCACCCACTGTTTTTCTGCTTTAACCAACAAAGTGTTTAACTTTAGAACACAGTAAAAATTAGTCTTCTATGATGTAATGGTTTATGTACAGACAGAAACTACGTTAAAAACAAAAAAACTATAAAATGTACATAGATTCAATGGCTAAAATTACATCATGAGTTTATGGTGTCAGTTTTTCTCAGCCCATTATTCAGAACTCACCTTTCCACTGAATCGTCCGGTTGCCTGACAAAGAATTGATACAATTCAAATGGAGATGTCTTATCTCTGTTTAGCCAAACAGCGTTGCCAGC... | AAAGTTGGCTCTACATTTTCTAGCCACCCACTGTTTTTCTGCTTTAACCAACAAAGTGTTTAACTTTAGAACACAGTAAAAATTAGTCTTCTATGATGTAATGGTTTATGTACAGACAGAAACTACGTTAAAAACAAAAAAACTATAAAATGTACATAGATTCAATGGCTAAAATTACATCATGAGTTTATGGTGTCAGTTTTTCTCAGCCCATTATTCAGAACTCACCTTTCCACTGAATCGTCCGGTTGCCTGACAAAGAATTGATACAATTCAAATGGAGATGTCTTATCTCTGTTTAGCCAAACAGCGTTGCCAGC... |
Task1_train_17281 | Consider a variant on Chromosome 12 in gene PKP2 (plakophilin 2). Determine its clinical classification and disease relevance. | Pathogenic; Familial isolated arrhythmogenic right ventricular dysplasia | TCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAG... | TCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAG... |
Task1_train_17282 | A variant affecting Chromosome 12, within the gene PKP2 (plakophilin 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Arrhythmogenic right ventricular dysplasia 9 | TCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAG... | TCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAG... |
Task1_train_17283 | Given a variant located on Chromosome 12 and affecting PKP2 (plakophilin 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiovascular phenotype | TCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAG... | TCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAG... |
Task1_train_17284 | Here is a genetic alteration in PKP2 (plakophilin 2) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cardiomyopathy | TCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAG... | TCAGCACTTATTAGTAACCCCTGGACTTTTCAGAATCACTTGGTAATAACTGAAGGGCAAATAAATCCATCAAAGTGATGGGTCTCTAATATTCAAAACTGTAAAAAGTTATTAAATTGCAAGGCTGTTATATTCATAATATTTGTTTATAAGTTGGTTGTTTGATACTTGGTACTCTTTTATTCAAAGATGTAATGTTATAAATGATAATTAGTTCCCAGGCTAGTCCACAAACGGTAGGTCAGATATATAACACTCTAGTAAGGAAAGAGCAGCAGACACCACTGGCAAGAAGCTCCTTGTTAACTTTTGTTTTTGAG... |
Task1_train_17285 | The variant affects gene PKP2 (plakophilin 2), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Arrhythmogenic right ventricular dysplasia 9 | GGCCTTTCCAACTCCATACTGCAGTAGACATCTGCTGTTGTTTTTGCCTTCCCAGCATTTATTCCTCCTTCCTTTGGTAGTAACAGTCTCATTTTCCATTAGGGAGCACTCCTTTACCATTTCAGCCCATGTGGTACAAGTGGCAGTGGCCCTCATCCAATCAAACCCATGCCCTGGAAGTGCACATCTGGGCATATGATCCAGACTTGGCCAATTAGAACATCATAGCCTCATAGACACAGGTATTGGTTCAGAAATGGGCAAGAGGCCCAAGCCAGCCCGTGAGACATATTCTCCAACTTCTTAACAACACTATTGGG... | GGCCTTTCCAACTCCATACTGCAGTAGACATCTGCTGTTGTTTTTGCCTTCCCAGCATTTATTCCTCCTTCCTTTGGTAGTAACAGTCTCATTTTCCATTAGGGAGCACTCCTTTACCATTTCAGCCCATGTGGTACAAGTGGCAGTGGCCCTCATCCAATCAAACCCATGCCCTGGAAGTGCACATCTGGGCATATGATCCAGACTTGGCCAATTAGAACATCATAGCCTCATAGACACAGGTATTGGTTCAGAAATGGGCAAGAGGCCCAAGCCAGCCCGTGAGACATATTCTCCAACTTCTTAACAACACTATTGGG... |
Task1_train_17286 | The following genetic variant occurs in PKP2 (plakophilin 2) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | ACCATTCGTATCCCAAACCTCAGCATCACACAATATATCCATGTGACACACTTGAACACGTAACCCCAAATCTAAAATGAATGTTGAATTTTTTAAAATGTGATATTTTAAGACATAAAGCGAGTAGAGATAACATAATGACAAAATCTTTATAGAAAAATTAAACCTATTATATAACTAAATGAAGCAGGTAGAAGAGCAAAATATATTCAATTTACTTTAAAACAATATTTGTGGAGTATTTCCGTTAAAAGTATTTACCAGAACACTGTCAACTATTACACAGTTAAAAAAAAAAAAAAAAAAACCTCTTCTATGAT... | ACCATTCGTATCCCAAACCTCAGCATCACACAATATATCCATGTGACACACTTGAACACGTAACCCCAAATCTAAAATGAATGTTGAATTTTTTAAAATGTGATATTTTAAGACATAAAGCGAGTAGAGATAACATAATGACAAAATCTTTATAGAAAAATTAAACCTATTATATAACTAAATGAAGCAGGTAGAAGAGCAAAATATATTCAATTTACTTTAAAACAATATTTGTGGAGTATTTCCGTTAAAAGTATTTACCAGAACACTGTCAACTATTACACAGTTAAAAAAAAAAAAAAAAAAACCTCTTCTATGAT... |
Task1_train_17287 | Chromosome 12 houses a mutation in gene PKP2 (plakophilin 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | AGCTGGCCATTCTCAGAGGATAAGAAAGAATATCTAATATGCCTCCTGTGTCTCCTACGCAGGGGAAGCTGATTTGGTTTCAGTTTAGCACTGGACCTATGGGCACAGAGAATGAATGGGTGTAATGGCTCCACTTTTCAAAGACTGGCCTCACTCATCCCGCAGTCTTTAGTCAGACCCCTAAGTCTAAATAAATATAAGGTCTTTCCCTCCATGTATTGCAGCAGTTCTGTGTTTTCTAGACCTCCCCAGCCTTTCAGAACTTCCTCAATTTTATTTAAAGAAAAATGGGAGGGGGCCACGGAGAGGCTTAGCATCTA... | AGCTGGCCATTCTCAGAGGATAAGAAAGAATATCTAATATGCCTCCTGTGTCTCCTACGCAGGGGAAGCTGATTTGGTTTCAGTTTAGCACTGGACCTATGGGCACAGAGAATGAATGGGTGTAATGGCTCCACTTTTCAAAGACTGGCCTCACTCATCCCGCAGTCTTTAGTCAGACCCCTAAGTCTAAATAAATATAAGGTCTTTCCCTCCATGTATTGCAGCAGTTCTGTGTTTTCTAGACCTCCCCAGCCTTTCAGAACTTCCTCAATTTTATTTAAAGAAAAATGGGAGGGGGCCACGGAGAGGCTTAGCATCTA... |
Task1_train_17288 | This alteration occurs within gene KIF21A (kinesin family member 21A) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital fibrosis of extraocular muscles type 1 | AACAATTAGTAATTCATGCAGCTGTAGGATACACAGAAAGCTAAACATACTTACCTAATGGTACGCTATCTAGATCTGTGTAAATAACAGCAAAAAGGAAACAAAAAGCAATACTCCAATCAAAACAGATCCAATGTTAAAAACTCCCACATAAAACAAGATTATGTACCATTTACATGTAGAATAGATGCCATAGCAAACACTTATAAGTTTATTTTTAAGGCAGTGAGATACGCAGAGTAAAGTAATGAAACTTGGTTACTATTTTAAGTAATTTAGATAACCAATACGAAAACTTGATTGGTCTTCTTTGCCCATAA... | AACAATTAGTAATTCATGCAGCTGTAGGATACACAGAAAGCTAAACATACTTACCTAATGGTACGCTATCTAGATCTGTGTAAATAACAGCAAAAAGGAAACAAAAAGCAATACTCCAATCAAAACAGATCCAATGTTAAAAACTCCCACATAAAACAAGATTATGTACCATTTACATGTAGAATAGATGCCATAGCAAACACTTATAAGTTTATTTTTAAGGCAGTGAGATACGCAGAGTAAAGTAATGAAACTTGGTTACTATTTTAAGTAATTTAGATAACCAATACGAAAACTTGATTGGTCTTCTTTGCCCATAA... |
Task1_train_17289 | This mutation is located in gene KIF21A (kinesin family member 21A) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Abnormality of eye movement | CCATTTACATGTAGAATAGATGCCATAGCAAACACTTATAAGTTTATTTTTAAGGCAGTGAGATACGCAGAGTAAAGTAATGAAACTTGGTTACTATTTTAAGTAATTTAGATAACCAATACGAAAACTTGATTGGTCTTCTTTGCCCATAAAAACTAATTGCTCAATAAGGTTAAGTAAGCCATTTTAAGTTGGTAACCATTTCTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGA... | CCATTTACATGTAGAATAGATGCCATAGCAAACACTTATAAGTTTATTTTTAAGGCAGTGAGATACGCAGAGTAAAGTAATGAAACTTGGTTACTATTTTAAGTAATTTAGATAACCAATACGAAAACTTGATTGGTCTTCTTTGCCCATAAAAACTAATTGCTCAATAAGGTTAAGTAAGCCATTTTAAGTTGGTAACCATTTCTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGA... |
Task1_train_17290 | Here is a variant affecting KIF21A (kinesin family member 21A) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Congenital fibrosis of extraocular muscles type 1 | CCATTTACATGTAGAATAGATGCCATAGCAAACACTTATAAGTTTATTTTTAAGGCAGTGAGATACGCAGAGTAAAGTAATGAAACTTGGTTACTATTTTAAGTAATTTAGATAACCAATACGAAAACTTGATTGGTCTTCTTTGCCCATAAAAACTAATTGCTCAATAAGGTTAAGTAAGCCATTTTAAGTTGGTAACCATTTCTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGA... | CCATTTACATGTAGAATAGATGCCATAGCAAACACTTATAAGTTTATTTTTAAGGCAGTGAGATACGCAGAGTAAAGTAATGAAACTTGGTTACTATTTTAAGTAATTTAGATAACCAATACGAAAACTTGATTGGTCTTCTTTGCCCATAAAAACTAATTGCTCAATAAGGTTAAGTAAGCCATTTTAAGTTGGTAACCATTTCTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGA... |
Task1_train_17291 | Here is a mutation in KIF21A (kinesin family member 21A) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Congenital fibrosis of extraocular muscles type 1 | CATTTACATGTAGAATAGATGCCATAGCAAACACTTATAAGTTTATTTTTAAGGCAGTGAGATACGCAGAGTAAAGTAATGAAACTTGGTTACTATTTTAAGTAATTTAGATAACCAATACGAAAACTTGATTGGTCTTCTTTGCCCATAAAAACTAATTGCTCAATAAGGTTAAGTAAGCCATTTTAAGTTGGTAACCATTTCTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGAT... | CATTTACATGTAGAATAGATGCCATAGCAAACACTTATAAGTTTATTTTTAAGGCAGTGAGATACGCAGAGTAAAGTAATGAAACTTGGTTACTATTTTAAGTAATTTAGATAACCAATACGAAAACTTGATTGGTCTTCTTTGCCCATAAAAACTAATTGCTCAATAAGGTTAAGTAAGCCATTTTAAGTTGGTAACCATTTCTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGAT... |
Task1_train_17292 | An alteration has been detected in KIF21A (kinesin family member 21A) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Fibrosis of extraocular muscles, congenital, 3b | TTCTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGATATACTATACCATGTTCAAAAAGCAAAGCTACCATGCAAATTCATTCAACTAAAATTGAGAGCAAATTACCTTGTAAAGCATGGCCTAGTAAAGCATCTAGCTCAGGATTTAATTCTGCCTTCTCTTTCAACATATGGAATAAGAGCTGGTTTTGGGTAGCACTGGTTATTTCTGTTTGTTTGAGTCGACCTTCCAGTACTT... | TTCTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGATATACTATACCATGTTCAAAAAGCAAAGCTACCATGCAAATTCATTCAACTAAAATTGAGAGCAAATTACCTTGTAAAGCATGGCCTAGTAAAGCATCTAGCTCAGGATTTAATTCTGCCTTCTCTTTCAACATATGGAATAAGAGCTGGTTTTGGGTAGCACTGGTTATTTCTGTTTGTTTGAGTCGACCTTCCAGTACTT... |
Task1_train_17293 | Gene KIF21A (kinesin family member 21A) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Inborn genetic diseases | TCTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGATATACTATACCATGTTCAAAAAGCAAAGCTACCATGCAAATTCATTCAACTAAAATTGAGAGCAAATTACCTTGTAAAGCATGGCCTAGTAAAGCATCTAGCTCAGGATTTAATTCTGCCTTCTCTTTCAACATATGGAATAAGAGCTGGTTTTGGGTAGCACTGGTTATTTCTGTTTGTTTGAGTCGACCTTCCAGTACTTT... | TCTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGATATACTATACCATGTTCAAAAAGCAAAGCTACCATGCAAATTCATTCAACTAAAATTGAGAGCAAATTACCTTGTAAAGCATGGCCTAGTAAAGCATCTAGCTCAGGATTTAATTCTGCCTTCTCTTTCAACATATGGAATAAGAGCTGGTTTTGGGTAGCACTGGTTATTTCTGTTTGTTTGAGTCGACCTTCCAGTACTTT... |
Task1_train_17294 | A variant was discovered on Chromosome 12, affecting KIF21A (kinesin family member 21A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital fibrosis of extraocular muscles type 1 | CTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGATATACTATACCATGTTCAAAAAGCAAAGCTACCATGCAAATTCATTCAACTAAAATTGAGAGCAAATTACCTTGTAAAGCATGGCCTAGTAAAGCATCTAGCTCAGGATTTAATTCTGCCTTCTCTTTCAACATATGGAATAAGAGCTGGTTTTGGGTAGCACTGGTTATTTCTGTTTGTTTGAGTCGACCTTCCAGTACTTTA... | CTTGGAATGACAATAATTACCTCGCCAAAATGTACACATGCAAATTAAAGAAAGAATAATTATTAAAAGCATGAGTAAATATAGCATCTATTCAGTCAAGCCATAGGGGAAAGGGATATACTATACCATGTTCAAAAAGCAAAGCTACCATGCAAATTCATTCAACTAAAATTGAGAGCAAATTACCTTGTAAAGCATGGCCTAGTAAAGCATCTAGCTCAGGATTTAATTCTGCCTTCTCTTTCAACATATGGAATAAGAGCTGGTTTTGGGTAGCACTGGTTATTTCTGTTTGTTTGAGTCGACCTTCCAGTACTTTA... |
Task1_train_17295 | The following genetic variant occurs in KIF21A (kinesin family member 21A) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Congenital fibrosis of extraocular muscles type 1 | GTGAACTCTTCATGTCATGCTTGCCCCCAGCCCCAGTCATGGTATTGACATATGCAAGTATGTGTGGCATGTTGTATGAAATGTGAATGGATGTACCACAGAGGGGCAGGCAAATTAGTAGGTATGCCATGATTTACATGTAAGAATAGCTGAAGATATAAAAGAGAACAGGAGATTCAAAAAATTGGAGATGATGTGTAGATATTGATCTATTCCCAACTGATGGGGGAAGAGGCATACGAAGGAAAGGCATCAAAGATAACTTCAGCAACATAAACTTTGCCTGTTTTATATGTCAAGTTAGGTAAGCACCCAATATT... | GTGAACTCTTCATGTCATGCTTGCCCCCAGCCCCAGTCATGGTATTGACATATGCAAGTATGTGTGGCATGTTGTATGAAATGTGAATGGATGTACCACAGAGGGGCAGGCAAATTAGTAGGTATGCCATGATTTACATGTAAGAATAGCTGAAGATATAAAAGAGAACAGGAGATTCAAAAAATTGGAGATGATGTGTAGATATTGATCTATTCCCAACTGATGGGGGAAGAGGCATACGAAGGAAAGGCATCAAAGATAACTTCAGCAACATAAACTTTGCCTGTTTTATATGTCAAGTTAGGTAAGCACCCAATATT... |
Task1_train_17296 | Located on Chromosome 12, this mutation impacts LRRK2 (leucine rich repeat kinase 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal dominant Parkinson disease 8 | AGGACTTGTTTCAGGCTTGTTTCTGTCTATTCCCAGTGCCTAGTGAGATCTGACATATGGTAGAAGTTTAGTACTTACTGAATTGATTTGTGGAGGAATAAATGTCTGAAACTTGGTAATCCTTCAATTAATATTTGTTAAATGAGCAAGCAAAATAATTTTGGGATTTAGTCTAGTTAAAACAAAGAGAATTGGAAGAGACTGTGACAAGGTGAGACATGCCGGCATTCAATGACTGGACAAGCTCAGAACCTTCTCTTAGGGAAATTTCAAAATGACACCATTAGATGGCACTTTGTTTGTTTGTTTGTTATTGTCAA... | AGGACTTGTTTCAGGCTTGTTTCTGTCTATTCCCAGTGCCTAGTGAGATCTGACATATGGTAGAAGTTTAGTACTTACTGAATTGATTTGTGGAGGAATAAATGTCTGAAACTTGGTAATCCTTCAATTAATATTTGTTAAATGAGCAAGCAAAATAATTTTGGGATTTAGTCTAGTTAAAACAAAGAGAATTGGAAGAGACTGTGACAAGGTGAGACATGCCGGCATTCAATGACTGGACAAGCTCAGAACCTTCTCTTAGGGAAATTTCAAAATGACACCATTAGATGGCACTTTGTTTGTTTGTTTGTTATTGTCAA... |
Task1_train_17297 | Gene LRRK2 (leucine rich repeat kinase 2) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Parkinson disease | CAAATAGTGGTGCATTCTTAAGAAATAAATCAAGAAAGGTAATGTTGCTTTTTGGTCATATCATCAGGAATGTTGGTCAGATTCTTATTAGTTACAGGAATGAATTGATCACTACTCTGATGTAAAATTCACTTATGATTTAGTCTTTTTCTCTAATTTGAAACTGTGGCAACATTTTAACATATTTCAAAATATATCTTTCTCTATCCATTATATTTTTGATAACACTTTGACTCTACTATTAGTTTAAAGGTGGTTTTTTAGCTACCTAAACACTTCTATTTCATTCAGGTTTTACATTAAGATCATTAGGAATGAAA... | CAAATAGTGGTGCATTCTTAAGAAATAAATCAAGAAAGGTAATGTTGCTTTTTGGTCATATCATCAGGAATGTTGGTCAGATTCTTATTAGTTACAGGAATGAATTGATCACTACTCTGATGTAAAATTCACTTATGATTTAGTCTTTTTCTCTAATTTGAAACTGTGGCAACATTTTAACATATTTCAAAATATATCTTTCTCTATCCATTATATTTTTGATAACACTTTGACTCTACTATTAGTTTAAAGGTGGTTTTTTAGCTACCTAAACACTTCTATTTCATTCAGGTTTTACATTAAGATCATTAGGAATGAAA... |
Task1_train_17298 | A variant was discovered in gene LRRK2 (leucine rich repeat kinase 2), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal dominant Parkinson disease 8 | GTGACATGTAAAAGAACTCACCTAAATCTCAAGTATACTTTTAAGCAGTTTATTATTTTATTTTTATCTTTCAAATACTAGGTTTCTTCAACAGCGATTAAAAAAGGCTGTGCCTTATAACCGAATGAAACTTATGATTGTGGGAAATACTGGGAGTGGTAAAACCACCTTATTGCAGCAATTAATGAAAACCAAGAAATCAGATCTTGGAATGCAAAGTGCCACAGTTGGCATAGATGTGAAAGACTGGCCTATCCAAATAAGAGACAAAAGAAAGAGAGATCTCGTCCTAAATGTGTGGGATTTTGCAGGTATTTCTT... | GTGACATGTAAAAGAACTCACCTAAATCTCAAGTATACTTTTAAGCAGTTTATTATTTTATTTTTATCTTTCAAATACTAGGTTTCTTCAACAGCGATTAAAAAAGGCTGTGCCTTATAACCGAATGAAACTTATGATTGTGGGAAATACTGGGAGTGGTAAAACCACCTTATTGCAGCAATTAATGAAAACCAAGAAATCAGATCTTGGAATGCAAAGTGCCACAGTTGGCATAGATGTGAAAGACTGGCCTATCCAAATAAGAGACAAAAGAAAGAGAGATCTCGTCCTAAATGTGTGGGATTTTGCAGGTATTTCTT... |
Task1_train_17299 | This sequence variant lies in LRRK2 (leucine rich repeat kinase 2) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal dominant Parkinson disease 8 | GTGACATGTAAAAGAACTCACCTAAATCTCAAGTATACTTTTAAGCAGTTTATTATTTTATTTTTATCTTTCAAATACTAGGTTTCTTCAACAGCGATTAAAAAAGGCTGTGCCTTATAACCGAATGAAACTTATGATTGTGGGAAATACTGGGAGTGGTAAAACCACCTTATTGCAGCAATTAATGAAAACCAAGAAATCAGATCTTGGAATGCAAAGTGCCACAGTTGGCATAGATGTGAAAGACTGGCCTATCCAAATAAGAGACAAAAGAAAGAGAGATCTCGTCCTAAATGTGTGGGATTTTGCAGGTATTTCTT... | GTGACATGTAAAAGAACTCACCTAAATCTCAAGTATACTTTTAAGCAGTTTATTATTTTATTTTTATCTTTCAAATACTAGGTTTCTTCAACAGCGATTAAAAAAGGCTGTGCCTTATAACCGAATGAAACTTATGATTGTGGGAAATACTGGGAGTGGTAAAACCACCTTATTGCAGCAATTAATGAAAACCAAGAAATCAGATCTTGGAATGCAAAGTGCCACAGTTGGCATAGATGTGAAAGACTGGCCTATCCAAATAAGAGACAAAAGAAAGAGAGATCTCGTCCTAAATGTGTGGGATTTTGCAGGTATTTCTT... |
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