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_400 | This variant affects the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Pheochromocytoma | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... |
Task1_train_401 | This sequence variant lies in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Gastrointestinal stromal tumor | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... |
Task1_train_402 | A genetic alteration is present in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Carney-Stratakis syndrome | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... |
Task1_train_403 | A mutation on Chromosome 1 affecting SDHB (succinate dehydrogenase complex iron sulfur subunit B) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Paragangliomas 4 | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... |
Task1_train_404 | This mutation occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mitochondrial complex 2 deficiency, nuclear type 4 | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... |
Task1_train_405 | A variant was discovered in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Gastrointestinal stromal tumor | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... |
Task1_train_406 | A variant found in Chromosome 1 affects SDHB (succinate dehydrogenase complex iron sulfur subunit B). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Paragangliomas 4 | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... |
Task1_train_407 | This sequence variant lies in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary cancer-predisposing syndrome | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... |
Task1_train_408 | A variant was discovered on Chromosome 1, affecting SDHB (succinate dehydrogenase complex iron sulfur subunit B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Paragangliomas 4 | GGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGC... | GGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGC... |
Task1_train_409 | Consider this mutation in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Pheochromocytoma | GGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGC... | GGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGC... |
Task1_train_410 | Assess the clinical impact of this variant on gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Gastrointestinal stromal tumor | GGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGC... | GGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGC... |
Task1_train_411 | The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Paragangliomas 4 | ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCT... | ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCT... |
Task1_train_412 | The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Gastrointestinal stromal tumor | ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCT... | ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCT... |
Task1_train_413 | Given this variant in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Pheochromocytoma | ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCT... | ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCT... |
Task1_train_414 | Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Paragangliomas 4 | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... |
Task1_train_415 | A mutation found in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Gastrointestinal stromal tumor | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... |
Task1_train_416 | A genomic change on Chromosome 1 affects SDHB (succinate dehydrogenase complex iron sulfur subunit B). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pheochromocytoma | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... |
Task1_train_417 | This gene mutation involves SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Paragangliomas 4 | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... |
Task1_train_418 | Chromosome 1 houses a mutation in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Pheochromocytoma | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... |
Task1_train_419 | This variant lies on Chromosome 1 and affects the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Gastrointestinal stromal tumor | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... | TTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTA... |
Task1_train_420 | Assess the clinical impact of this variant on gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Paragangliomas 4 | TTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAA... | TTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAA... |
Task1_train_421 | Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Pheochromocytoma | CTCAAGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATT... | CTCAAGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATT... |
Task1_train_422 | The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Gastrointestinal stromal tumor | CTCAAGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATT... | CTCAAGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATT... |
Task1_train_423 | A variant was discovered in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Paragangliomas 4 | CTCAAGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATT... | CTCAAGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATT... |
Task1_train_424 | This alteration occurs within gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Paragangliomas 4 | CTCAAGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATT... | CTCAAGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATT... |
Task1_train_425 | Given this variant in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | CTCAAGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATT... | CTCAAGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATT... |
Task1_train_426 | This alteration in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary pheochromocytoma-paraganglioma | AGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCT... | AGCTAGCCTACCACCTAGACCTCCCAAAGTACTGGGATCACAGGCGTGAGCCACTGCGCCCAGTCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCT... |
Task1_train_427 | This variant affects gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Paraganglioma | TATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATAC... | TATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATAC... |
Task1_train_428 | A variant was discovered in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Gastrointestinal stromal tumor | TATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATAC... | TATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATAC... |
Task1_train_429 | This mutation is located in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Paragangliomas 4 | TATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATAC... | TATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATAC... |
Task1_train_430 | The following genetic variant occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pheochromocytoma | TATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATAC... | TATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATAC... |
Task1_train_431 | This gene mutation involves SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Paragangliomas 4 | TATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATAC... | TATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATAC... |
Task1_train_432 | This mutation occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Gastrointestinal stromal tumor | AGTGAACCGTGAGCATGCCATTGCACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACT... | AGTGAACCGTGAGCATGCCATTGCACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACT... |
Task1_train_433 | A mutation found in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pheochromocytoma | AGTGAACCGTGAGCATGCCATTGCACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACT... | AGTGAACCGTGAGCATGCCATTGCACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACT... |
Task1_train_434 | The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Paragangliomas 4 | AGTGAACCGTGAGCATGCCATTGCACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACT... | AGTGAACCGTGAGCATGCCATTGCACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACT... |
Task1_train_435 | This alteration in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Gastrointestinal stromal tumor | AAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGG... | AAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGG... |
Task1_train_436 | A change on Chromosome 1 affects gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pheochromocytoma | AAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGG... | AAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGG... |
Task1_train_437 | Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Paragangliomas 4 | AAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGG... | AAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGG... |
Task1_train_438 | Here’s a variant in SDHB (succinate dehydrogenase complex iron sulfur subunit B) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary cancer-predisposing syndrome | AAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGG... | AAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGG... |
Task1_train_439 | A variant was discovered in gene PADI3 (peptidyl arginine deiminase 3), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Central centrifugal cicatricial alopecia | GAAAAATCATCGCCAGGAATTATCAGGCATGGAGGTACCCAGCCCTGAGCTAGGCCTTGGTTTGTGGGATCAAGACCTTCTGGACTCATAAACTAGGTCAGGAGTGGGCAAACTTTTTCCGTGAAAAGTCACATAGCAAGTATTTTAGGCTTTGTGGGACATATGGTCTCAATTCTGCCACTATAGTGTGAAAGCAGCCACAGTTAATACAGAAATGGATGGATGTGACTGTGTGCTAATAAAACTTTATTTATACAAACAGGCAGTAGGCCAGATTTGGCCCACAGTTCATAATGTGCTGATCCTGACCTAGGCGAGAA... | GAAAAATCATCGCCAGGAATTATCAGGCATGGAGGTACCCAGCCCTGAGCTAGGCCTTGGTTTGTGGGATCAAGACCTTCTGGACTCATAAACTAGGTCAGGAGTGGGCAAACTTTTTCCGTGAAAAGTCACATAGCAAGTATTTTAGGCTTTGTGGGACATATGGTCTCAATTCTGCCACTATAGTGTGAAAGCAGCCACAGTTAATACAGAAATGGATGGATGTGACTGTGTGCTAATAAAACTTTATTTATACAAACAGGCAGTAGGCCAGATTTGGCCCACAGTTCATAATGTGCTGATCCTGACCTAGGCGAGAA... |
Task1_train_440 | Assess the clinical impact of this variant on gene PADI3 (peptidyl arginine deiminase 3), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Central centrifugal cicatricial alopecia | CCCACTGAGACTGCATGAATCCCAGAGGATCCTCCCTTTCTCAGTGACCCCAGAGGTCCCAGGGCAAAGACCCTTTGACACGCAGGATCATAGATTTTCTTGGTCCCATGGCCTCAGGGAAGGCAGATAGCATCCTAGACCAAACACAGCTCAGAGAGAAAAAAAGCTCCTGTAGAACTTAGACGCCCCCAAGTATAATAATTTCCAAAGTCCCCTTGCTCTCTGTTTGCTAGCGTTAACTTCTTCCAACACAACCCTGGAGCCTTAGCAATAAAATGGAAGAGAAATAGTCTTTCTTGACCCTGTTGCTCCCAAACGCA... | CCCACTGAGACTGCATGAATCCCAGAGGATCCTCCCTTTCTCAGTGACCCCAGAGGTCCCAGGGCAAAGACCCTTTGACACGCAGGATCATAGATTTTCTTGGTCCCATGGCCTCAGGGAAGGCAGATAGCATCCTAGACCAAACACAGCTCAGAGAGAAAAAAAGCTCCTGTAGAACTTAGACGCCCCCAAGTATAATAATTTCCAAAGTCCCCTTGCTCTCTGTTTGCTAGCGTTAACTTCTTCCAACACAACCCTGGAGCCTTAGCAATAAAATGGAAGAGAAATAGTCTTTCTTGACCCTGTTGCTCCCAAACGCA... |
Task1_train_441 | A variant found in Chromosome 1 affects PADI3 (peptidyl arginine deiminase 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Uncombable hair syndrome 1 | CTCGAGAGAGGAAAAATGTCTGGTCACAGTCATATTTAGGATTGTGGTGGCCAGTGGGGGTGGCAGGGAGAATCAGGGGTCCTATGGTGCTCCTCAGAAGGGCTTCTAGCTGGCTGACCACCATGGTCCCTGTGGAATGCTTGCTGGCCAAGCCCTGGCCCAAGGGGCATCAGGGAAGGGGTCCACTTGACATTTGTGGAGTGAATGAATGATTGCATGAGGTCACGTGTGCAAAGCACATGGCATCAGCTGGGAACCCAGATGCTCATTCTGCTCTCTTCCTCCCAGCTTGTGGCTCTTCATCCATCCCACATGTATTT... | CTCGAGAGAGGAAAAATGTCTGGTCACAGTCATATTTAGGATTGTGGTGGCCAGTGGGGGTGGCAGGGAGAATCAGGGGTCCTATGGTGCTCCTCAGAAGGGCTTCTAGCTGGCTGACCACCATGGTCCCTGTGGAATGCTTGCTGGCCAAGCCCTGGCCCAAGGGGCATCAGGGAAGGGGTCCACTTGACATTTGTGGAGTGAATGAATGATTGCATGAGGTCACGTGTGCAAAGCACATGGCATCAGCTGGGAACCCAGATGCTCATTCTGCTCTCTTCCTCCCAGCTTGTGGCTCTTCATCCATCCCACATGTATTT... |
Task1_train_442 | Chromosome 1 houses a mutation in gene PADI3 (peptidyl arginine deiminase 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Central centrifugal cicatricial alopecia | GCTGGCCAAGCCCTGGCCCAAGGGGCATCAGGGAAGGGGTCCACTTGACATTTGTGGAGTGAATGAATGATTGCATGAGGTCACGTGTGCAAAGCACATGGCATCAGCTGGGAACCCAGATGCTCATTCTGCTCTCTTCCTCCCAGCTTGTGGCTCTTCATCCATCCCACATGTATTTAGGGTGTCCTGTGGCAGATGCAGAGATGATTAAGAATGCCCCCTGCTCTCAAGGGACTTTCAGTCTAATCGGTTGAGAGGGAAACTCTTCCCTTCTCTGAGGACATGTCCCAGTGATCTATTTTGTAGGATAAGGCGATGTG... | GCTGGCCAAGCCCTGGCCCAAGGGGCATCAGGGAAGGGGTCCACTTGACATTTGTGGAGTGAATGAATGATTGCATGAGGTCACGTGTGCAAAGCACATGGCATCAGCTGGGAACCCAGATGCTCATTCTGCTCTCTTCCTCCCAGCTTGTGGCTCTTCATCCATCCCACATGTATTTAGGGTGTCCTGTGGCAGATGCAGAGATGATTAAGAATGCCCCCTGCTCTCAAGGGACTTTCAGTCTAATCGGTTGAGAGGGAAACTCTTCCCTTCTCTGAGGACATGTCCCAGTGATCTATTTTGTAGGATAAGGCGATGTG... |
Task1_train_443 | This genomic variant is located on Chromosome 1, within the LOC126805634, PADI6 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:17707761-17708960| peptidyl arginine deiminase 6) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Preimplantation embryonic lethality 2 | CAGCAAAAGGGGGCAGGGAAGGGGCCCTATAAGCCAAATCTGCCCACAGGCTCACTTGATCTGACCTTCCTCGTGTCTAGCCCAATTGCTGTGACATTGCTGAAGGATTAGATACGTGGAGGGGAGGGGTAAACCAAACTGTCACGGTACAAGTCAGAGCTGATTAAATTCCTTTTCTTTTGTGGGGTATTTTTTTGTTTTTTTTTGTTTGTTTGTTTTTGATGTTGTTTTTGATGGAGTTTCCCTCTGTTACCCAGGCTGGAGTGCAGTGGCATGATCTTAGCTCACTGTAATCTCCACCTCCCAGGTTCAAGTAATTC... | CAGCAAAAGGGGGCAGGGAAGGGGCCCTATAAGCCAAATCTGCCCACAGGCTCACTTGATCTGACCTTCCTCGTGTCTAGCCCAATTGCTGTGACATTGCTGAAGGATTAGATACGTGGAGGGGAGGGGTAAACCAAACTGTCACGGTACAAGTCAGAGCTGATTAAATTCCTTTTCTTTTGTGGGGTATTTTTTTGTTTTTTTTTGTTTGTTTGTTTTTGATGTTGTTTTTGATGGAGTTTCCCTCTGTTACCCAGGCTGGAGTGCAGTGGCATGATCTTAGCTCACTGTAATCTCCACCTCCCAGGTTCAAGTAATTC... |
Task1_train_444 | An alteration has been detected in PAX7 (paired box 7) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Myopathy, congenital, progressive, with scoliosis | TTAGAGAACCTCTAAACGGCGAGAGGGGCACGGCAATGTCCAAACGAGAAGAAAGAGCTGATTTTGTAAAGCGTCCTTCCTAAACATCCAGCGCCCGCCCGGGGAGACCCGATAGGACGGGCGGCGGCGAACCGGGTCCTGGCTGGAGAAAAGGCTGGGAGCGCACAGCGGAGAGACCCGCTCCTGTGTTTTTGTTCTGTTTTCTTTTTAAACTAATGGAAGGCCTCAACCTGTCACTGAGGGATCATTTGGCTTCTGAGGGTAGGTAGCCTAGGGTGTCACAGAGAAGTCATTAGAAATATGTGCGACTTTTTTTTTTT... | TTAGAGAACCTCTAAACGGCGAGAGGGGCACGGCAATGTCCAAACGAGAAGAAAGAGCTGATTTTGTAAAGCGTCCTTCCTAAACATCCAGCGCCCGCCCGGGGAGACCCGATAGGACGGGCGGCGGCGAACCGGGTCCTGGCTGGAGAAAAGGCTGGGAGCGCACAGCGGAGAGACCCGCTCCTGTGTTTTTGTTCTGTTTTCTTTTTAAACTAATGGAAGGCCTCAACCTGTCACTGAGGGATCATTTGGCTTCTGAGGGTAGGTAGCCTAGGGTGTCACAGAGAAGTCATTAGAAATATGTGCGACTTTTTTTTTTT... |
Task1_train_445 | Given this variant in gene PINK1 (PTEN induced kinase 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive early-onset Parkinson disease 6 | ACTTAGGAGGCTGAGGTGGGTGGATTGCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTGTAGTTGCAACACTGCACCCCATCCTGGGCAACTAGCAGGAGTGTGCTAGTAGCAAGCTCTAAAAATTTATATTATAAAAATATATATATAATGTGTATATATATGTATATGTGTATATATGTTGTGTATACTATAATATGTATGTTCCATATAATAGTATATAGTATATTTTATATATATACACACACACGTTGCTTCTGCTCCATGAAGTTTATAAGGGAAGTTGGATTTTCCTTTTTTTTTTTTGATACGGAGTCTC... | ACTTAGGAGGCTGAGGTGGGTGGATTGCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCTGTAGTTGCAACACTGCACCCCATCCTGGGCAACTAGCAGGAGTGTGCTAGTAGCAAGCTCTAAAAATTTATATTATAAAAATATATATATAATGTGTATATATATGTATATGTGTATATATGTTGTGTATACTATAATATGTATGTTCCATATAATAGTATATAGTATATTTTATATATATACACACACACGTTGCTTCTGCTCCATGAAGTTTATAAGGGAAGTTGGATTTTCCTTTTTTTTTTTTGATACGGAGTCTC... |
Task1_train_446 | Here is a mutation in PINK1, PINK1-AS (PTEN induced kinase 1| PINK1 antisense RNA) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive early-onset Parkinson disease 6 | GGGTCCCCTGTGCAGATTTGGGAGGAGTGAGTATGAAACGTGCAGTGGCAATTCAGGCTTTGACATCAGCAAACTTGTTCTGTGCAAGCTGCAATTGGCCTTATTGGTTCCAACCAATTTCAGCCAGTTCTTTTATCTCATAAGCAGAGGGAGTTTCAGCCTTTCAGAAAGTGGTTTCTGCAAACTCAAATTTTCTTTTATTTTTCTGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTA... | GGGTCCCCTGTGCAGATTTGGGAGGAGTGAGTATGAAACGTGCAGTGGCAATTCAGGCTTTGACATCAGCAAACTTGTTCTGTGCAAGCTGCAATTGGCCTTATTGGTTCCAACCAATTTCAGCCAGTTCTTTTATCTCATAAGCAGAGGGAGTTTCAGCCTTTCAGAAAGTGGTTTCTGCAAACTCAAATTTTCTTTTATTTTTCTGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTA... |
Task1_train_447 | A sequence alteration has been identified in PINK1, PINK1-AS (PTEN induced kinase 1| PINK1 antisense RNA) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive early-onset Parkinson disease 6 | CCAATTTCAGCCAGTTCTTTTATCTCATAAGCAGAGGGAGTTTCAGCCTTTCAGAAAGTGGTTTCTGCAAACTCAAATTTTCTTTTATTTTTCTGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTGCAGGCACATGCCACCATGCCCAGCTAATTTTTGTAGTTTTTGTAGAGACAGAGTTTCTCCATGTTGCCCGGGCTGGCCTCGAACTCCTGGGCTCAAGCAATTG... | CCAATTTCAGCCAGTTCTTTTATCTCATAAGCAGAGGGAGTTTCAGCCTTTCAGAAAGTGGTTTCTGCAAACTCAAATTTTCTTTTATTTTTCTGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTGCAGGCACATGCCACCATGCCCAGCTAATTTTTGTAGTTTTTGTAGAGACAGAGTTTCTCCATGTTGCCCGGGCTGGCCTCGAACTCCTGGGCTCAAGCAATTG... |
Task1_train_448 | A genetic alteration is present in PINK1, PINK1-AS (PTEN induced kinase 1| PINK1 antisense RNA) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive early-onset Parkinson disease 6 | AGTTCTTTTATCTCATAAGCAGAGGGAGTTTCAGCCTTTCAGAAAGTGGTTTCTGCAAACTCAAATTTTCTTTTATTTTTCTGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTGCAGGCACATGCCACCATGCCCAGCTAATTTTTGTAGTTTTTGTAGAGACAGAGTTTCTCCATGTTGCCCGGGCTGGCCTCGAACTCCTGGGCTCAAGCAATTGCCTGCCTCAGCC... | AGTTCTTTTATCTCATAAGCAGAGGGAGTTTCAGCCTTTCAGAAAGTGGTTTCTGCAAACTCAAATTTTCTTTTATTTTTCTGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGAGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCAACCTCCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTGCAGGCACATGCCACCATGCCCAGCTAATTTTTGTAGTTTTTGTAGAGACAGAGTTTCTCCATGTTGCCCGGGCTGGCCTCGAACTCCTGGGCTCAAGCAATTGCCTGCCTCAGCC... |
Task1_train_449 | Mutation context: Chromosome 1, Gene PINK1, PINK1-AS (PTEN induced kinase 1| PINK1 antisense RNA). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive early-onset Parkinson disease 6 | GGACTCTGTCTTGTTCTGTGCCATAGTTCCACAGCATTCCAGCATGATGTCTGGTACTCAGCATGCAAACAGTGCGTATTGGTTGAATGAATAATAGTACAGCTAATAGCAGCTGAGAGCTTCCTCTGTGCTAGACACGATTCTAGGTGCCTTCCACACTTTGACAACCTTATGCAGCGTGTTAACACTGCATTCCCCTTGCACCCTGGAGATTGAGCCCAGAGAAGATAAGGACAGAGGGGACACATTCCAAGATAGATCCCCCAGTGGATGCCTGAAGCCACAGATAGTAACAAACCCTATATATACTGTGTTTTTTC... | GGACTCTGTCTTGTTCTGTGCCATAGTTCCACAGCATTCCAGCATGATGTCTGGTACTCAGCATGCAAACAGTGCGTATTGGTTGAATGAATAATAGTACAGCTAATAGCAGCTGAGAGCTTCCTCTGTGCTAGACACGATTCTAGGTGCCTTCCACACTTTGACAACCTTATGCAGCGTGTTAACACTGCATTCCCCTTGCACCCTGGAGATTGAGCCCAGAGAAGATAAGGACAGAGGGGACACATTCCAAGATAGATCCCCCAGTGGATGCCTGAAGCCACAGATAGTAACAAACCCTATATATACTGTGTTTTTTC... |
Task1_train_450 | The gene DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TGTGCTTACCTGAGTGGAAGAGTACAGGTGTGTGTAGCCTAGCCGGTTGTAATCCACTTTAAACTGGAATACACCATACACGTCGGGCAACTTGAACTGAACACTGTATTTGCCACCTGCGGAAGAACCAACAAGAATAACCGGGAGGGGTTTCCCAGAGCTTTTCCTGGTTGGGCCTCGAGAGCAAGTGAGGCCTGGGGCCGTTTCTGGCAGCATCCTCGTGCAGGAACTACACTCACCTTTCTTCTTCAGGAAGGTCCTCACAAAAGGATCAATGCGGACAAACTCCAGCTGAATGTCATCGCCATCAAAGGGGACCC... | TGTGCTTACCTGAGTGGAAGAGTACAGGTGTGTGTAGCCTAGCCGGTTGTAATCCACTTTAAACTGGAATACACCATACACGTCGGGCAACTTGAACTGAACACTGTATTTGCCACCTGCGGAAGAACCAACAAGAATAACCGGGAGGGGTTTCCCAGAGCTTTTCCTGGTTGGGCCTCGAGAGCAAGTGAGGCCTGGGGCCGTTTCTGGCAGCATCCTCGTGCAGGAACTACACTCACCTTTCTTCTTCAGGAAGGTCCTCACAAAAGGATCAATGCGGACAAACTCCAGCTGAATGTCATCGCCATCAAAGGGGACCC... |
Task1_train_451 | This variant lies on Chromosome 1 and affects the gene ECE1 (endothelin converting enzyme 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hirschsprung disease, cardiac defects, and autonomic dysfunction | GGCCAGGAGGCCTGGGCTGCTGAGGCGGGAAAGCGGTGGCTGTGGAGGGCACGTGCTGCCCCCACCTCCGTCTCGGGGCCTGGCTTCCCCACTGGATGGCAGAGGCCGCTCCAGGTGCTTCCACTTGGTGGCGCCCATGAGTCTGCTACTGGAGAAGCTGTGGTCTCAGGGAGGAGACAGACACCACAGGCCAGACTGGGTGGAGGAATCTTCCCCTCACAATGTCCCCTGGCTAAAAGCATCCATCTAGCTGCAAGTACTATCTTGATTCAACCCAGGGGCCGACAATGGACTGCAGCCCAGGGTAAGTCCAGCAGTTT... | GGCCAGGAGGCCTGGGCTGCTGAGGCGGGAAAGCGGTGGCTGTGGAGGGCACGTGCTGCCCCCACCTCCGTCTCGGGGCCTGGCTTCCCCACTGGATGGCAGAGGCCGCTCCAGGTGCTTCCACTTGGTGGCGCCCATGAGTCTGCTACTGGAGAAGCTGTGGTCTCAGGGAGGAGACAGACACCACAGGCCAGACTGGGTGGAGGAATCTTCCCCTCACAATGTCCCCTGGCTAAAAGCATCCATCTAGCTGCAAGTACTATCTTGATTCAACCCAGGGGCCGACAATGGACTGCAGCCCAGGGTAAGTCCAGCAGTTT... |
Task1_train_452 | A variant found in Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Adult hypophosphatasia | TTTTTAAGGTTGAATCAAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGC... | TTTTTAAGGTTGAATCAAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGC... |
Task1_train_453 | The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Childhood hypophosphatasia | TTTTTAAGGTTGAATCAAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGC... | TTTTTAAGGTTGAATCAAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGC... |
Task1_train_454 | A change on Chromosome 1 affects gene ALPL (alkaline phosphatase, biomineralization associated). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Infantile hypophosphatasia | TTTTTAAGGTTGAATCAAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGC... | TTTTTAAGGTTGAATCAAGATCCTTCTTCTGGTGGTAGTGGTTTCTTTTTCTCCCTTCCCTTCCCTTCCCTTTCCTCCCCTTCCCTTTCCTCCCTCCCCTCCCCTCCCCTCCCTCCTTCCTTTTCTCCTTTTCTTTTTCTCTATTTTTAAATTAAAAAAAAAAATCTTGGATGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGACCCCATCTCTACTAAAAATACAAAATTGGCCGGGCATGGTGGCGCAAGC... |
Task1_train_455 | This is a variant in ALPL (alkaline phosphatase, biomineralization associated), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Adult hypophosphatasia | ACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTG... | ACGCGTCGGAGCTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTG... |
Task1_train_456 | A sequence alteration has been identified in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Adult hypophosphatasia | CTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGC... | CTGGGCCAAAAGATGAGAATTGTGTCCCCAGCCCACGAACATGCTACACGGCCTTGGACAAGACCCTCCCATTCCTGATCTCTCCTCCCGTTCTGTGCAGTGGGAGGCCTTGAAAGAGGAAACCGCTAGGGAGCCTCCTCTCTAGGCTTCTGAGCAGATCTGATAGGGCCCTGGGACAGAGGGGAGCCCCGCAGACTCTGGGAGGGACTCCAGCTCCCATAGCCAGGGTCCTGGTCCAGCCCTGGAGACGGGATAATGGGGATGGGAGGCAACTTTTGAGCCTCTCCTGTGGGTCAGGTGTGTCACTTGCCTTATCCGGC... |
Task1_train_457 | This variant affects gene ALPL (alkaline phosphatase, biomineralization associated) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Odontohypophosphatasia | CCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTT... | CCCACTGCAGGGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTT... |
Task1_train_458 | Gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | ATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTC... | ATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAACCCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAGGTGAGCCCCATCCCCAAGCCCAGTTCAGGTCTGTATATCCAGTATCCAGGTCGAGCATCTGAACATGACAGCAGCCAGAGGTCCCCTGACCCCCTGAGCCCCCTCCATGCCCAAGCCCACTCCCCACCTGGAGCAGCCACTGCCCTGACTTCTGACACCATAGCATCACTGTACCTGCTTGCGGGTGTGTGTTTAGAGAGAGGGTC... |
Task1_train_459 | This mutation occurs in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypophosphatasia | CGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACA... | CGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACA... |
Task1_train_460 | This genomic variant is located on Chromosome 1, within the ALPL (alkaline phosphatase, biomineralization associated) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Adult hypophosphatasia | CGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACA... | CGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACA... |
Task1_train_461 | This variant affects gene ALPL (alkaline phosphatase, biomineralization associated) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Adult hypophosphatasia | CGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACA... | CGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACA... |
Task1_train_462 | The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Childhood hypophosphatasia | CGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACA... | CGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACA... |
Task1_train_463 | A variant has been detected on Chromosome 1 in ALPL (alkaline phosphatase, biomineralization associated). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Infantile hypophosphatasia | CGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACA... | CGTGAAGTTAATTAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACA... |
Task1_train_464 | The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Adult hypophosphatasia | TAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAG... | TAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAG... |
Task1_train_465 | Gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypophosphatasia | TAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAG... | TAGACTATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAG... |
Task1_train_466 | A mutation in ALPL (alkaline phosphatase, biomineralization associated), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | ATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACT... | ATAGGCATACCTCAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACT... |
Task1_train_467 | The variant affects gene ALPL (alkaline phosphatase, biomineralization associated), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not specified | CAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGT... | CAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGT... |
Task1_train_468 | A variant affecting Chromosome 1, within the gene ALPL (alkaline phosphatase, biomineralization associated), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Adult hypophosphatasia | CAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGT... | CAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGT... |
Task1_train_469 | Consider this mutation in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Adult hypophosphatasia | CAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGT... | CAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGT... |
Task1_train_470 | This variant lies on Chromosome 1 and affects the gene ALPL (alkaline phosphatase, biomineralization associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Childhood hypophosphatasia | CAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGT... | CAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGT... |
Task1_train_471 | A variant found in Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Infantile hypophosphatasia | CAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGT... | CAGCTATACTTCGGGTTTGGTTCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGT... |
Task1_train_472 | Mutation context: Chromosome 1, Gene ALPL (alkaline phosphatase, biomineralization associated). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Adult hypophosphatasia | TCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGT... | TCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGT... |
Task1_train_473 | A genomic change on Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Childhood hypophosphatasia | TCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGT... | TCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGT... |
Task1_train_474 | With a mutation on Chromosome 1 in gene ALPL (alkaline phosphatase, biomineralization associated), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Infantile hypophosphatasia | TCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGT... | TCCAGGCCACTGTAATAAAGCAAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGT... |
Task1_train_475 | A sequence alteration has been identified in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Hypophosphatasia | AAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCG... | AAATATTGCAATGAAGCAAGTCACACATTTTTTGGTTTCCCAGTGCATATAAAAGTTATGTTTGCACCCTACAGTAGTCTTTTAAGTGTGGGATAGCATTATGTCTAAAAAAATGTATATACCTTAATTTAAAAATATGCTATTGCTAAAAAACGCTAATGAAGTGAGCTCATGTTTTTGGAAAAAATGATGCTGATAGACTTGCTTGACACAGGGTTGCCACAGATCTTCAATTTGTAACAAACACAGTGTCTGTGGAGTACACTAAAATGAGGTGTGCCTGTACTGACCTAGGTTGTTCAAGGCAGTGTGCACTGCCG... |
Task1_train_476 | This mutation is located in gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Adult hypophosphatasia | CCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTT... | CCTGGGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTT... |
Task1_train_477 | With a mutation on Chromosome 1 in gene ALPL (alkaline phosphatase, biomineralization associated), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Adult hypophosphatasia | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... |
Task1_train_478 | Gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Childhood hypophosphatasia | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... |
Task1_train_479 | This variant affects gene ALPL (alkaline phosphatase, biomineralization associated) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Infantile hypophosphatasia | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... |
Task1_train_480 | A variant found in Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypophosphatasia | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... |
Task1_train_481 | This alteration in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Infantile hypophosphatasia | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... |
Task1_train_482 | This is a variant in ALPL (alkaline phosphatase, biomineralization associated), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Adult hypophosphatasia | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... | GGGTCCCCTTCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAG... |
Task1_train_483 | Given this variant in gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Adult hypophosphatasia | TCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCC... | TCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCC... |
Task1_train_484 | The gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Childhood hypophosphatasia | TCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCC... | TCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCC... |
Task1_train_485 | A sequence alteration has been identified in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Infantile hypophosphatasia | TCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCC... | TCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCC... |
Task1_train_486 | With a mutation on Chromosome 1 in gene ALPL (alkaline phosphatase, biomineralization associated), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Adult hypophosphatasia | TCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCC... | TCTCCTTCTTCTCCCAGCCCACCCTGCCCCCTGAGCTCCTGGCTGCAGCTGAGAGCAAGGACTCTGCCTCTCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCC... |
Task1_train_487 | This mutation is located in gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Adult hypophosphatasia | TCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAA... | TCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAA... |
Task1_train_488 | Gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Childhood hypophosphatasia | TCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAA... | TCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAA... |
Task1_train_489 | A mutation on Chromosome 1 affecting ALPL (alkaline phosphatase, biomineralization associated) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Infantile hypophosphatasia | TCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAA... | TCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAA... |
Task1_train_490 | A variant found in Chromosome 1 affects ALPL (alkaline phosphatase, biomineralization associated). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypophosphatasia | TCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAA... | TCTGAACCACTTGTTTCCCCACTCCTTCTGGCAATAGAAATGCCTTCCAGTGGCAGCCACCCCCTGGGTGCTGGGGACTTCCCTGGGTGACTGCCTTTCCTCCTGTGATGGGTCTGTGGATGGATGTTAGTTGCATTTTATTTATTATTATTATTTTGAGACGGAGTCTCATTCTGTCTCTAAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCACTGCAGCCTTCACCTCCCGGGTTCAAGCGATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCGCACATCACCACGCCCGGCTAATTTTTTTTTTTTAA... |
Task1_train_491 | Consider this mutation in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Hypophosphatasia | AGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGT... | AGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGT... |
Task1_train_492 | A variant has been detected on Chromosome 1 in ALPL (alkaline phosphatase, biomineralization associated). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Adult hypophosphatasia | AGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGT... | AGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGT... |
Task1_train_493 | Gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Childhood hypophosphatasia | AGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGT... | AGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGT... |
Task1_train_494 | Gene ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Adult hypophosphatasia | AGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGT... | AGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGT... |
Task1_train_495 | Here is a variant affecting ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Infantile hypophosphatasia | AGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGT... | AGGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGT... |
Task1_train_496 | A mutation in ALPL (alkaline phosphatase, biomineralization associated), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Adult hypophosphatasia | GGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTG... | GGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTG... |
Task1_train_497 | This variant affects the gene ALPL (alkaline phosphatase, biomineralization associated) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Childhood hypophosphatasia | GGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTG... | GGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTG... |
Task1_train_498 | Consider this mutation in ALPL (alkaline phosphatase, biomineralization associated) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Infantile hypophosphatasia | GGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTG... | GGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTG... |
Task1_train_499 | This genomic variant is located on Chromosome 1, within the ALPL (alkaline phosphatase, biomineralization associated) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Adult hypophosphatasia | GGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTG... | GGTGGCCTGTGATGGGGAGAGGCTGTGTGACCCCTGCTCTGAAGTTCTGTTGTCCTCTGTAGAAAGGGCATCGGAAATCTTTCCTCCATGGGCTCAAATGGCCTAAGAGATATACAAGCAGTAGATAGTCAGTGACTAATCATTTCCTTCCCTTGGAGGGGATACCAGAGAGAGGCGGATGGTGAGGAGGAGGCTGGGCCAGGGAATAACCTGCGTGGACATTGAGTCACCCTGAGCACCTATTGTATGTAGGCACCTGGCGGGGCATGCGTGAGGCACAGAGGCTGAGTCAGATGGCCAAGGAAACATGGAATGCTGTG... |
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