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 |
|---|---|---|---|---|
Task1_train_27100 | Chromosome 19 houses a mutation in gene RYR1 (ryanodine receptor 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Central core myopathy | GGCGCCACTGCATTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACA... | GGCGCCACTGCATTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACA... |
Task1_train_27101 | A mutation in RYR1 (ryanodine receptor 1), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | GCATTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGAC... | GCATTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGAC... |
Task1_train_27102 | A mutation in RYR1 (ryanodine receptor 1), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; RYR1-related disorder | TTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCT... | TTCGAGCCTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCT... |
Task1_train_27103 | This variant affects the gene RYR1 (ryanodine receptor 1) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; RYR1-related disorder | CTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAA... | CTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAA... |
Task1_train_27104 | This mutation is located in gene RYR1 (ryanodine receptor 1) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Central core myopathy | CTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAA... | CTGGGTGACAGAGTGAGACCTTGTCTCAAAAATAAATAAATAGGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAA... |
Task1_train_27105 | The gene RYR1 (ryanodine receptor 1), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; RYR1-related disorder | GGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTA... | GGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTA... |
Task1_train_27106 | A variant was discovered on Chromosome 19, affecting RYR1 (ryanodine receptor 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Central core myopathy | GGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTA... | GGCTGGACGTGGTGGCTCAAGCCTGTAATCCCAGCACTTAGGCTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTA... |
Task1_train_27107 | Given this variant in gene RYR1 (ryanodine receptor 1) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; RYR1-related disorder | CTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAAT... | CTGAGGAGGGCGGATCACGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACACAAATTAGCTGGGCGTGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGTAGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAAT... |
Task1_train_27108 | The gene RYR1 (ryanodine receptor 1) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | CAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCA... | CAGGTGTGATTCTTACTCAGGTGCAATGAGTGCAAAATAAAAAAACATGGCCAGGCACGATGGCTCATGCCTGTAATCCCAACACTTGGGAGGCCAAGGTGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCTCTACTAAAAATACAAAAAGTAGGCATGGTGGTGGGTGCCTGTGGTCCTAGCTACTCCGGAGGCTGAGGCATGAGAATCACTTAAACCTGCGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCTCTGCACTCCA... |
Task1_train_27109 | Given this variant in gene RYR1 (ryanodine receptor 1) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | CTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCAAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGG... | CTCTCTCTGCAGGTCTTTCCCTAGCAACTACTGGGACAAGTTTGTCAAGCGCAAGGTGAGAGGACATGGATGCCCTGGGTCCTGGATTGGGTCCCTGCCTGCCACCAGGCCATCACAGGCCTGCCAAGCACTTGCTTGGTGTGTGACCTTGGGCAAGAGGTTTTTTTGCCTTTCTGAGTAGCACCTCAGTTTCCCCATGGGGAGATGGGCATAGTAAGCTTGCTTCCCTTTCTTGAATGGGCACATGGAAAGAGCAGAGCATCAAGGCCAAGCGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGATGG... |
Task1_train_27110 | The variant affects gene RYR1 (ryanodine receptor 1), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Central core myopathy | ATGAGCGCAAGCCCAACCCGCCGCCAGGGCTGCTGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGG... | ATGAGCGCAAGCCCAACCCGCCGCCAGGGCTGCTGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGG... |
Task1_train_27111 | Here is a mutation in RYR1 (ryanodine receptor 1) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Central core myopathy | CAAGCCCAACCCGCCGCCAGGGCTGCTGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTC... | CAAGCCCAACCCGCCGCCAGGGCTGCTGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTC... |
Task1_train_27112 | Given this variant in gene RYR1 (ryanodine receptor 1) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; RYR1-related disorder | TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCC... | TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCC... |
Task1_train_27113 | A variant found in Chromosome 19 affects RYR1 (ryanodine receptor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Lynch syndrome 5 | TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCC... | TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCC... |
Task1_train_27114 | This variant affects the gene RYR1 (ryanodine receptor 1) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Malignant hyperthermia, susceptibility to, 1 | TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCC... | TGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCC... |
Task1_train_27115 | This alteration occurs within gene RYR1 (ryanodine receptor 1) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTAT... | CCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCTCCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGACAACGTGAGCAGGGGCCCACAGACTGGGGAGGGACTCTGCAGGGGTGGGGCGTTAGGAGGGTTCCCAACGTCGGGTGTTCCTGACCAAAGAATGACTCCTGGGACCCTGAGTGGCTGTGACCCTAGGGTATCTTCTTATCCACACAAGGCTCCTTATCCCCCTAGACATCTTATTAGTATTAT... |
Task1_train_27116 | This variant lies on Chromosome 19 and affects the gene RYR1 (ryanodine receptor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | CTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTAC... | CTAGACATCTTATTAGTATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTAC... |
Task1_train_27117 | This sequence change occurs on Chromosome 19, altering RYR1 (ryanodine receptor 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; RYR1-related disorder | ATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAG... | ATTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAG... |
Task1_train_27118 | Here is a genetic alteration in RYR1 (ryanodine receptor 1) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; RYR1-related disorder | TTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGG... | TTATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGG... |
Task1_train_27119 | Consider a variant on Chromosome 19 in gene RYR1 (ryanodine receptor 1). Determine its clinical classification and disease relevance. | Pathogenic; Central core myopathy | ATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAG... | ATTATTACTATTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAG... |
Task1_train_27120 | This alteration in RYR1 (ryanodine receptor 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; RYR1-related disorder | TTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGA... | TTTTTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGA... |
Task1_train_27121 | Here is a mutation in RYR1 (ryanodine receptor 1) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; RYR1-related disorder | TTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATC... | TTTTTTAAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATC... |
Task1_train_27122 | This mutation occurs in RYR1 (ryanodine receptor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Central core myopathy | AAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAG... | AAATAGCTGGGATTGGGTGTGGTGGCTCACGCCTGTACTCCCAACACTTTGAGAAGCCAAGGCTGGTGGATCACTGGAGCCCAGAGTTTGAGACCAGCCTGGGCAATATAGTGAGATCCTCTCTCTACAGAAAATTTAAAAATTAGCTGGGGCTGGGCGTGCTGGCTTACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACAAACCTGGCACTGGGCATGGCAGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAATCCAGGAG... |
Task1_train_27123 | A variant has been detected on Chromosome 19 in RYR1 (ryanodine receptor 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Central core myopathy | CCACAGCCTCGTTCTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCA... | CCACAGCCTCGTTCTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCA... |
Task1_train_27124 | A variant found in Chromosome 19 affects RYR1 (ryanodine receptor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Central core myopathy | CTCGTTCTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCC... | CTCGTTCTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCC... |
Task1_train_27125 | A variant on Chromosome 19 in gene RYR1 (ryanodine receptor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; RYR1-related disorder | CTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATC... | CTCATTATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATC... |
Task1_train_27126 | This gene mutation involves RYR1 (ryanodine receptor 1) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Central core myopathy | ATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCA... | ATAGTCACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCA... |
Task1_train_27127 | A variant was discovered in gene RYR1 (ryanodine receptor 1), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; RYR1-related disorder | ACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCAC... | ACTTATCTTAGTTTTTACTCTAGGATGACTGTGTTCTCTCACATCCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCAC... |
Task1_train_27128 | This variant affects gene RYR1 (ryanodine receptor 1) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Central core myopathy | CCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAA... | CCTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAA... |
Task1_train_27129 | This genomic variant is located on Chromosome 19, within the RYR1 (ryanodine receptor 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | CTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAA... | CTGGGGACACGGAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAA... |
Task1_train_27130 | The gene RYR1 (ryanodine receptor 1), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; RYR1-related disorder | GAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAA... | GAAAGAACAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAA... |
Task1_train_27131 | A variant on Chromosome 19 in gene RYR1 (ryanodine receptor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; RYR1-related disorder | CAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAA... | CAAGTGTATGCCGGGCGCTGTGGCTCACGCTTTTAATCCCAGCATTTTGGGAGGCCAAGGCAGGTGGATCATCTGAGGTCAAGAGTTTGAGACCAGTCTGGCCAACGTGGTGAAACCCTGTCTCCACTAAAAATACAAAAATTAGTGGGATGTGGTGGTGGGCGCCTATAATCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCCGGAGGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAGTACAA... |
Task1_train_27132 | A genetic alteration is present in RYR1 (ryanodine receptor 1) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCA... | TCTATTTTCCAGCCTCACCCAACCATTTTCAGTTCCTCACAGCAGCAGGATGTACTCTTTCCTCACTGATGGCGAGGCAGCATGTGGCCTTCTCTGCTGGGAACACTCTCCCACCACCCCTCCACCTAAGGCCTCCTTTAGGTTTCAGCTCACACCTGCCTCCTCTTCCAGGAAGCCTCACCTGATCACCTAGGCTGGATCAGATGCCTCCAGCGGGCTGTTAAAGCTTCCAGTGCTTCCCCTAGCTCATCCCTGGTCACACTGTGCCTCCCCACCCCAGCCTCGACCCTCTGCCTGTGCCCCTCCCATCCTCGCCCTCA... |
Task1_train_27133 | This variant affects gene ACTN4 (actinin alpha 4) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Focal segmental glomerulosclerosis 1 | AGAGAAAGACAGCCCCGTATAAGAACGTCAATGTGCAGAACTTCCACATCAGGTAAGCGCCAGTCCTGGTCATCCTCTCCTTTCCTCTAGGAACCTGAGATCCTTCCTCCCACCTGCCCTGTTTGCTGTGTTTTTGTCGTGGTCTGTGAGATGCCAGCCCTCAGTCAGCCCCTCCCTGGCCACGGGCCCTACAAGCCCATGGGAAGGTCACCTGGTCCTCTCTGAGGAAGAGGAGGCAGTTTCCCAGCCATCCTGGCTGAAGGCAGTAAGGTCAGCCCTCTCGCCGGCCTAATAGAACGTTCTTCGTCCCCAGGCAAGGT... | AGAGAAAGACAGCCCCGTATAAGAACGTCAATGTGCAGAACTTCCACATCAGGTAAGCGCCAGTCCTGGTCATCCTCTCCTTTCCTCTAGGAACCTGAGATCCTTCCTCCCACCTGCCCTGTTTGCTGTGTTTTTGTCGTGGTCTGTGAGATGCCAGCCCTCAGTCAGCCCCTCCCTGGCCACGGGCCCTACAAGCCCATGGGAAGGTCACCTGGTCCTCTCTGAGGAAGAGGAGGCAGTTTCCCAGCCATCCTGGCTGAAGGCAGTAAGGTCAGCCCTCTCGCCGGCCTAATAGAACGTTCTTCGTCCCCAGGCAAGGT... |
Task1_train_27134 | This variant affects gene ACTN4 (actinin alpha 4) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Focal segmental glomerulosclerosis 1 | AGAGAAAGACAGCCCCGTATAAGAACGTCAATGTGCAGAACTTCCACATCAGGTAAGCGCCAGTCCTGGTCATCCTCTCCTTTCCTCTAGGAACCTGAGATCCTTCCTCCCACCTGCCCTGTTTGCTGTGTTTTTGTCGTGGTCTGTGAGATGCCAGCCCTCAGTCAGCCCCTCCCTGGCCACGGGCCCTACAAGCCCATGGGAAGGTCACCTGGTCCTCTCTGAGGAAGAGGAGGCAGTTTCCCAGCCATCCTGGCTGAAGGCAGTAAGGTCAGCCCTCTCGCCGGCCTAATAGAACGTTCTTCGTCCCCAGGCAAGGT... | AGAGAAAGACAGCCCCGTATAAGAACGTCAATGTGCAGAACTTCCACATCAGGTAAGCGCCAGTCCTGGTCATCCTCTCCTTTCCTCTAGGAACCTGAGATCCTTCCTCCCACCTGCCCTGTTTGCTGTGTTTTTGTCGTGGTCTGTGAGATGCCAGCCCTCAGTCAGCCCCTCCCTGGCCACGGGCCCTACAAGCCCATGGGAAGGTCACCTGGTCCTCTCTGAGGAAGAGGAGGCAGTTTCCCAGCCATCCTGGCTGAAGGCAGTAAGGTCAGCCCTCTCGCCGGCCTAATAGAACGTTCTTCGTCCCCAGGCAAGGT... |
Task1_train_27135 | The gene ACTN4 (actinin alpha 4) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Focal segmental glomerulosclerosis 1 | TGTCTGACCCCCTAACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAG... | TGTCTGACCCCCTAACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAG... |
Task1_train_27136 | This mutation occurs in ACTN4 (actinin alpha 4) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | AACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCA... | AACTCCGGGTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCA... |
Task1_train_27137 | A mutation on Chromosome 19 affecting ACTN4 (actinin alpha 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Focal segmental glomerulosclerosis 1 | GTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGT... | GTCACCATCCCCATGCCCTTCCATCGCCAGCCTCCAGATCTGGGTTCTGCACGCAGATGGGCAGCCTGGGAGAGCCTTGTGCAGGCTCTCCGCAACCCCTGGCTCGGTGGCTGACTCTCACCTCCCTTATTCCCCTCGTGGACTGTCCAGTCTCCCTCCATGGCACTGCAACCAACCCGGGGTTATTTAAGGGCCTGGCCAGCCATGCTTTATAACTCCCCTTCCTCAATCTTCTGGATTCTAGAACCTCCTCTGCCCAAAGGGGCAGAGGGCAAGGAATTCCAAACCATCACCACAAGCCCATGTTGCCCATGCAGGGT... |
Task1_train_27138 | This mutation occurs in SARS2 (seryl-tRNA synthetase 2, mitochondrial) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | GGTGGGGTCAGGGAGGAGAGAACAGTAGGCAGAGTCTGGAAATCTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTAGTGTGATCCCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGAATTCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCGCCACCACACCCAGCTCTTTTTTTTTTTAGATGGAGTCTCGCACTGTAGCCCATGCTGGAGTGCAGTGGCGCGATCTCCACTCACCACAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTG... | GGTGGGGTCAGGGAGGAGAGAACAGTAGGCAGAGTCTGGAAATCTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTAGTGTGATCCCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGAATTCTGCCTCAGCCTCCCAAGCAGCTGGGATTACAGGTGCCCGCCACCACACCCAGCTCTTTTTTTTTTTAGATGGAGTCTCGCACTGTAGCCCATGCTGGAGTGCAGTGGCGCGATCTCCACTCACCACAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTG... |
Task1_train_27139 | A variant on Chromosome 19 in gene SARS2 (seryl-tRNA synthetase 2, mitochondrial) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome | GGGACAGCACAGGCGGTGGCGTTCACCTGTGAGACAGCCATGCTCGGAACTGGCGCCCACCCCAAGCTGAGCCCGGGGAGGAGCCAAGGTGGGTGGGTCTAGGGCGGCAGAGGCTGCGGGCGAGGGCACGCGGGCAGGAGGCTGTGCGGGCCTCACCGTGTGGGCAAACTGCAGCTCCCCAGCCTCGGTCTGGAACATGATGTGGAGGCGGCGGCTCTGGAAGTCTGTGCAGTTGGAAGCACTGGTGACCTGGGGTGGAGGAGCGGCAGGCTGAGCGGATCAGGGATGGGGGGCAGGCCTGTCCTCCTGCCCACCCCGTC... | GGGACAGCACAGGCGGTGGCGTTCACCTGTGAGACAGCCATGCTCGGAACTGGCGCCCACCCCAAGCTGAGCCCGGGGAGGAGCCAAGGTGGGTGGGTCTAGGGCGGCAGAGGCTGCGGGCGAGGGCACGCGGGCAGGAGGCTGTGCGGGCCTCACCGTGTGGGCAAACTGCAGCTCCCCAGCCTCGGTCTGGAACATGATGTGGAGGCGGCGGCTCTGGAAGTCTGTGCAGTTGGAAGCACTGGTGACCTGGGGTGGAGGAGCGGCAGGCTGAGCGGATCAGGGATGGGGGGCAGGCCTGTCCTCCTGCCCACCCCGTC... |
Task1_train_27140 | A variant has been detected on Chromosome 19 in TIMM50 (translocase of inner mitochondrial membrane 50). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Mitochondrial encephalopathy | CGTGGCGTCAGCGCAAGATGGCGGCCTCGGCAGCGGTGTTCTCGCGCTTGCGAAGCGGGCTCCGGCTCGGCTCGCGGGGACTGTGCACGAGGTTGGCGACGCCGCCCCGCCGGGCCCCAGATCAGGTGAGCGGAACGAGGGTGGCCCTCTGAATGTGGGGTCCCTTCCCTGGAGTTACGGACATATCGCCGCCCCTTGGGGGTTCCGGGACGCCTCACCTCAGGGTGCTGAATGAAACGCCGCTTGTGTTTTGGGGCCCTTCCCAACCTCCTGGGTGGTTGCTCCCCTAGGCTGGAGGCTGGGAATCCAGGTGTGTCCTT... | CGTGGCGTCAGCGCAAGATGGCGGCCTCGGCAGCGGTGTTCTCGCGCTTGCGAAGCGGGCTCCGGCTCGGCTCGCGGGGACTGTGCACGAGGTTGGCGACGCCGCCCCGCCGGGCCCCAGATCAGGTGAGCGGAACGAGGGTGGCCCTCTGAATGTGGGGTCCCTTCCCTGGAGTTACGGACATATCGCCGCCCCTTGGGGGTTCCGGGACGCCTCACCTCAGGGTGCTGAATGAAACGCCGCTTGTGTTTTGGGGCCCTTCCCAACCTCCTGGGTGGTTGCTCCCCTAGGCTGGAGGCTGGGAATCCAGGTGTGTCCTT... |
Task1_train_27141 | This genomic variant is located on Chromosome 19, within the TIMM50 (translocase of inner mitochondrial membrane 50) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | TTGATTGTTTCAAACTGGGCAGTTGTAGAATCATGCTGGCTTCAACAAATCAGTATGCTGATTTAAATTGGGCAGGTACATCTGCAGTTTTAAAGTGTATATGTTTACTAGCCTAACTGGTTTCAATATTGTGGTTTATTTTTATTTTTATTTTTTTTTGAGACATAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGATGCAATTTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCATTTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGCACACCACCACACTCAGCTAATTTTTATAGTTT... | TTGATTGTTTCAAACTGGGCAGTTGTAGAATCATGCTGGCTTCAACAAATCAGTATGCTGATTTAAATTGGGCAGGTACATCTGCAGTTTTAAAGTGTATATGTTTACTAGCCTAACTGGTTTCAATATTGTGGTTTATTTTTATTTTTATTTTTTTTTGAGACATAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGATGCAATTTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCATTTCTCGTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGCGCACACCACCACACTCAGCTAATTTTTATAGTTT... |
Task1_train_27142 | The gene TIMM50 (translocase of inner mitochondrial membrane 50) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; 3-methylglutaconic aciduria type 9 | AAGTTAAAATGAGAAAGTAAACTGGAGTCAATATATTCACTTAAACCAGGGTTTTTCACCCTTGGCCCTATTGACGCTTTGGACCAGATAATTATAGAGGACTGCCCTGTGCATTGAAGGATTTTTGCAGCATCCTGGGCATCTGCCTACTAGATGCCAGTATTGCGATAACCGGTTATATCTCCCGGCATTGCCAGATTTCCCAGGGGTAGGCAGATAGACAAAATTGTTCCTAGTTCTGAACCACTGTTTTATGGTATATGGATGTGTTTATATATTTATTGTGGTTTAGATTCAGCACACTGGATTAAAGTGGGCAG... | AAGTTAAAATGAGAAAGTAAACTGGAGTCAATATATTCACTTAAACCAGGGTTTTTCACCCTTGGCCCTATTGACGCTTTGGACCAGATAATTATAGAGGACTGCCCTGTGCATTGAAGGATTTTTGCAGCATCCTGGGCATCTGCCTACTAGATGCCAGTATTGCGATAACCGGTTATATCTCCCGGCATTGCCAGATTTCCCAGGGGTAGGCAGATAGACAAAATTGTTCCTAGTTCTGAACCACTGTTTTATGGTATATGGATGTGTTTATATATTTATTGTGGTTTAGATTCAGCACACTGGATTAAAGTGGGCAG... |
Task1_train_27143 | This sequence change occurs on Chromosome 19, altering TIMM50 (translocase of inner mitochondrial membrane 50). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Inborn genetic diseases | TTGTCCTCTTGGGGACTCTGAGGACCTCTGGGTCTTGGTGTTTCACTGTCCTCACTGTCTTCCCAGCTGGCCACTGGCTGGAGGTTTAAGAAGCGCCCAGGCATCGAGACCTTGTTCCAGCAGCTTGCCCCTTTATATGAAATTGTCATCTTTACGTCAGAGACTGGCATGGTGAGGCTCTGGGGCAGGGGAGGGAATATTGGTGTGGTGGGAGGCGTAGAGATCTGGAGGACCAGGGCTCAGCCTGACCTTTTCTCGCTCCCTTCCCACCCCCAGACTGCGTTTCCACTCATTGATAGTGTGGACCCCCATGGCTTCAT... | TTGTCCTCTTGGGGACTCTGAGGACCTCTGGGTCTTGGTGTTTCACTGTCCTCACTGTCTTCCCAGCTGGCCACTGGCTGGAGGTTTAAGAAGCGCCCAGGCATCGAGACCTTGTTCCAGCAGCTTGCCCCTTTATATGAAATTGTCATCTTTACGTCAGAGACTGGCATGGTGAGGCTCTGGGGCAGGGGAGGGAATATTGGTGTGGTGGGAGGCGTAGAGATCTGGAGGACCAGGGCTCAGCCTGACCTTTTCTCGCTCCCTTCCCACCCCCAGACTGCGTTTCCACTCATTGATAGTGTGGACCCCCATGGCTTCAT... |
Task1_train_27144 | A variant on Chromosome 19 in gene DLL3 (delta like canonical Notch ligand 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Spondylocostal dysostosis 1, autosomal recessive | TCCCTCTGGGGTCACATGGGCAGACAGAAGAATGTGGAGTGGATCGAGGGGATGTCGGGAGGACCTCCCAGGGTGGCCCCTGCATAGTGGGACTTGAGACTGGACAAGGAGCAGCCCCCAGTGGTTAGGACTGAGGAGGGGGATGGGATTTTTCTCCAAGGAAACACCCTTCTCAAGTACTCTTGTCCCTGCCCAGGAGACACCCAGGTCCTTTGAATGCACCTGCCCGCGTGGGTTCTACGGGCTGCGGTGTGAGGTGAGCGGGGTGACATGTGCAGATGGACCCTGCTTCAACGGCGGCTTGTGTGTCGGGGGTGCAG... | TCCCTCTGGGGTCACATGGGCAGACAGAAGAATGTGGAGTGGATCGAGGGGATGTCGGGAGGACCTCCCAGGGTGGCCCCTGCATAGTGGGACTTGAGACTGGACAAGGAGCAGCCCCCAGTGGTTAGGACTGAGGAGGGGGATGGGATTTTTCTCCAAGGAAACACCCTTCTCAAGTACTCTTGTCCCTGCCCAGGAGACACCCAGGTCCTTTGAATGCACCTGCCCGCGTGGGTTCTACGGGCTGCGGTGTGAGGTGAGCGGGGTGACATGTGCAGATGGACCCTGCTTCAACGGCGGCTTGTGTGTCGGGGGTGCAG... |
Task1_train_27145 | Chromosome 19 houses a mutation in gene DLL3 (delta like canonical Notch ligand 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | GGCAGACAGAAGAATGTGGAGTGGATCGAGGGGATGTCGGGAGGACCTCCCAGGGTGGCCCCTGCATAGTGGGACTTGAGACTGGACAAGGAGCAGCCCCCAGTGGTTAGGACTGAGGAGGGGGATGGGATTTTTCTCCAAGGAAACACCCTTCTCAAGTACTCTTGTCCCTGCCCAGGAGACACCCAGGTCCTTTGAATGCACCTGCCCGCGTGGGTTCTACGGGCTGCGGTGTGAGGTGAGCGGGGTGACATGTGCAGATGGACCCTGCTTCAACGGCGGCTTGTGTGTCGGGGGTGCAGACCCTGACTCTGCCTACA... | GGCAGACAGAAGAATGTGGAGTGGATCGAGGGGATGTCGGGAGGACCTCCCAGGGTGGCCCCTGCATAGTGGGACTTGAGACTGGACAAGGAGCAGCCCCCAGTGGTTAGGACTGAGGAGGGGGATGGGATTTTTCTCCAAGGAAACACCCTTCTCAAGTACTCTTGTCCCTGCCCAGGAGACACCCAGGTCCTTTGAATGCACCTGCCCGCGTGGGTTCTACGGGCTGCGGTGTGAGGTGAGCGGGGTGACATGTGCAGATGGACCCTGCTTCAACGGCGGCTTGTGTGTCGGGGGTGCAGACCCTGACTCTGCCTACA... |
Task1_train_27146 | This genomic variant is located on Chromosome 19, within the DYRK1B (dual specificity tyrosine phosphorylation regulated kinase 1B) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | GAATGATGCTGAGCTCAGGCGTGGCCAGAAAGAGCAGTGCCGTGCAGAGCTGCTGCGCCAGCTTCCGGGTCAGGTTCAGCGAGACGCCGCGGAAGTGGGTGTTGCGCAGGAGGTCGTACAGGTTGTAGGACAGCAGCTCAAATACCAGGCACAGGTGGTTCCGGAACATGAAGTGCCGCTTCAGGTGTACTGCGGGGGAGGGGAGGAAATGGGCCAGAGAAGAAACGGCTCAGAGAGGGCAGGTGGTGGCCTGGGGTCATACAACGCTCTTTGATTACTAGCCACATTGTGCTGTCCCCACGGGTACCATCTGCTAGTCA... | GAATGATGCTGAGCTCAGGCGTGGCCAGAAAGAGCAGTGCCGTGCAGAGCTGCTGCGCCAGCTTCCGGGTCAGGTTCAGCGAGACGCCGCGGAAGTGGGTGTTGCGCAGGAGGTCGTACAGGTTGTAGGACAGCAGCTCAAATACCAGGCACAGGTGGTTCCGGAACATGAAGTGCCGCTTCAGGTGTACTGCGGGGGAGGGGAGGAAATGGGCCAGAGAAGAAACGGCTCAGAGAGGGCAGGTGGTGGCCTGGGGTCATACAACGCTCTTTGATTACTAGCCACATTGTGCTGTCCCCACGGGTACCATCTGCTAGTCA... |
Task1_train_27147 | This variant affects the gene DYRK1B (dual specificity tyrosine phosphorylation regulated kinase 1B) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Abdominal obesity-metabolic syndrome 3 | AGTGCCGTGCAGAGCTGCTGCGCCAGCTTCCGGGTCAGGTTCAGCGAGACGCCGCGGAAGTGGGTGTTGCGCAGGAGGTCGTACAGGTTGTAGGACAGCAGCTCAAATACCAGGCACAGGTGGTTCCGGAACATGAAGTGCCGCTTCAGGTGTACTGCGGGGGAGGGGAGGAAATGGGCCAGAGAAGAAACGGCTCAGAGAGGGCAGGTGGTGGCCTGGGGTCATACAACGCTCTTTGATTACTAGCCACATTGTGCTGTCCCCACGGGTACCATCTGCTAGTCAAAATCTTTTTATCTAACAACTAGATTCACACAGGA... | AGTGCCGTGCAGAGCTGCTGCGCCAGCTTCCGGGTCAGGTTCAGCGAGACGCCGCGGAAGTGGGTGTTGCGCAGGAGGTCGTACAGGTTGTAGGACAGCAGCTCAAATACCAGGCACAGGTGGTTCCGGAACATGAAGTGCCGCTTCAGGTGTACTGCGGGGGAGGGGAGGAAATGGGCCAGAGAAGAAACGGCTCAGAGAGGGCAGGTGGTGGCCTGGGGTCATACAACGCTCTTTGATTACTAGCCACATTGTGCTGTCCCCACGGGTACCATCTGCTAGTCAAAATCTTTTTATCTAACAACTAGATTCACACAGGA... |
Task1_train_27148 | This genomic variant is located on Chromosome 19, within the AKT2 (AKT serine/threonine kinase 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Type 2 diabetes mellitus | TCTTCTCAGCCCCAGCTGGAGAGACCCCCCAACCAGAAGCGCAGATAGGAAACCCCTATGTAGGGTCCCAGGGAAAATCTCTCCAGCTGTACCTTTTCTCCTCACACCAGGCTTGCTCCCTCTCAAGGGCAGCCACACAGAGGCCCAGACTGACCTCTCGTCTGGAGAATCCACGTGGAAGGTCCTCTCGATGACTGTGGTCCACTGCAGGCAGCGTATGACAAAGGTGTTGGGTCGCGGCCTCTCGGTCTTCATCAGCTGGCATTCTGCAGGCAGAGGGAACAGACAGCAGGGGGCTGAGGGGATAGCCCTGCTAGCCT... | TCTTCTCAGCCCCAGCTGGAGAGACCCCCCAACCAGAAGCGCAGATAGGAAACCCCTATGTAGGGTCCCAGGGAAAATCTCTCCAGCTGTACCTTTTCTCCTCACACCAGGCTTGCTCCCTCTCAAGGGCAGCCACACAGAGGCCCAGACTGACCTCTCGTCTGGAGAATCCACGTGGAAGGTCCTCTCGATGACTGTGGTCCACTGCAGGCAGCGTATGACAAAGGTGTTGGGTCGCGGCCTCTCGGTCTTCATCAGCTGGCATTCTGCAGGCAGAGGGAACAGACAGCAGGGGGCTGAGGGGATAGCCCTGCTAGCCT... |
Task1_train_27149 | A variant affecting Chromosome 19, within the gene AKT2 (AKT serine/threonine kinase 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypoinsulinemic hypoglycemia and body hemihypertrophy | TCTTCTCAGCCCCAGCTGGAGAGACCCCCCAACCAGAAGCGCAGATAGGAAACCCCTATGTAGGGTCCCAGGGAAAATCTCTCCAGCTGTACCTTTTCTCCTCACACCAGGCTTGCTCCCTCTCAAGGGCAGCCACACAGAGGCCCAGACTGACCTCTCGTCTGGAGAATCCACGTGGAAGGTCCTCTCGATGACTGTGGTCCACTGCAGGCAGCGTATGACAAAGGTGTTGGGTCGCGGCCTCTCGGTCTTCATCAGCTGGCATTCTGCAGGCAGAGGGAACAGACAGCAGGGGGCTGAGGGGATAGCCCTGCTAGCCT... | TCTTCTCAGCCCCAGCTGGAGAGACCCCCCAACCAGAAGCGCAGATAGGAAACCCCTATGTAGGGTCCCAGGGAAAATCTCTCCAGCTGTACCTTTTCTCCTCACACCAGGCTTGCTCCCTCTCAAGGGCAGCCACACAGAGGCCCAGACTGACCTCTCGTCTGGAGAATCCACGTGGAAGGTCCTCTCGATGACTGTGGTCCACTGCAGGCAGCGTATGACAAAGGTGTTGGGTCGCGGCCTCTCGGTCTTCATCAGCTGGCATTCTGCAGGCAGAGGGAACAGACAGCAGGGGGCTGAGGGGATAGCCCTGCTAGCCT... |
Task1_train_27150 | A variant was discovered on Chromosome 19, affecting LOC130064467, SPTBN4 (ATAC-STARR-seq lymphoblastoid silent region 10632| spectrin beta, non-erythrocytic 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neurodevelopmental disorder with hypotonia, neuropathy, and deafness | TTATCACAATTCTCTCAGCAGCCTTATGAAGTGGGGGCTGTTGTCTTCTCCATTGTATGACTAGGGCAACTGAGGCACAAAAAGGGCAAGTCACTCAGCTTAAACGAACCAGGACTTTCAGAATCCAGAGTTGGCCAGTGTGTGTTGTGCAGATCTGTCCAGTCAGCTGAGTGTGTCTCCAGAAAGAGGCCTTTGGTCAGGAGACAATGACTTCTTGATTCTTTTTAAATTGCACATTTCATGAACATTTGCTGAGTGCCCACTCTGCCTGGCATGTGCTGAGTCGAGCGGTGACTGAACCAGTCCCATCCCTGACTTTA... | TTATCACAATTCTCTCAGCAGCCTTATGAAGTGGGGGCTGTTGTCTTCTCCATTGTATGACTAGGGCAACTGAGGCACAAAAAGGGCAAGTCACTCAGCTTAAACGAACCAGGACTTTCAGAATCCAGAGTTGGCCAGTGTGTGTTGTGCAGATCTGTCCAGTCAGCTGAGTGTGTCTCCAGAAAGAGGCCTTTGGTCAGGAGACAATGACTTCTTGATTCTTTTTAAATTGCACATTTCATGAACATTTGCTGAGTGCCCACTCTGCCTGGCATGTGCTGAGTCGAGCGGTGACTGAACCAGTCCCATCCCTGACTTTA... |
Task1_train_27151 | A genomic change on Chromosome 19 affects LOC130064475, LTBP4 (ATAC-STARR-seq lymphoblastoid silent region 10639| latent transforming growth factor beta binding protein 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | GGCCGCCTGCCTCCTCCCTCCCCTCCGCACAGCTGTCTCCAGCTGTTCTCTGCAGCCCCGGGAGAGAGAGGGAGGGGGTGCCCTCGCAGGACAGCCCGGCCTCCTTTGGCTCAAAGGTCCCGGGGCTCCCCAAGGGTCCGGAATGTGGAGCCTCCGCCCTGCCCCCGCCGCACCTCTCTCTTTGTTTACCCCGCCGCACAGCTGGCAGTGCCCCGCCCAGAGGTGGCCTGGGGCCCAGCGAGGGCGCGCAGAGGGGAGTGGAGGCGCGTTCCCGCTCGTGGCTCCGCCCCGGTGCTACTGGAGGCTGTAAGGCCGAGCTA... | GGCCGCCTGCCTCCTCCCTCCCCTCCGCACAGCTGTCTCCAGCTGTTCTCTGCAGCCCCGGGAGAGAGAGGGAGGGGGTGCCCTCGCAGGACAGCCCGGCCTCCTTTGGCTCAAAGGTCCCGGGGCTCCCCAAGGGTCCGGAATGTGGAGCCTCCGCCCTGCCCCCGCCGCACCTCTCTCTTTGTTTACCCCGCCGCACAGCTGGCAGTGCCCCGCCCAGAGGTGGCCTGGGGCCCAGCGAGGGCGCGCAGAGGGGAGTGGAGGCGCGTTCCCGCTCGTGGCTCCGCCCCGGTGCTACTGGAGGCTGTAAGGCCGAGCTA... |
Task1_train_27152 | A sequence alteration has been identified in COQ8B (coenzyme Q8B) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Nephrotic syndrome, type 9 | CATACTGACATCATCTATTCCATAAAAAAAAAAAAAGTGCTGGTGGATCATGAGGTCAGGAGTTCAAGACTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAATTGATGTCAGGACTCC... | CATACTGACATCATCTATTCCATAAAAAAAAAAAAAGTGCTGGTGGATCATGAGGTCAGGAGTTCAAGACTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAATTGATGTCAGGACTCC... |
Task1_train_27153 | Consider this mutation in COQ8B (coenzyme Q8B) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Nephrotic syndrome, type 9 | CTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAATTGATGTCAGGACTCCTATCACTTGGAGTTGGGTAAACATATCCCTGGGGTATGAACCTAGGAGGGGACACAGGGTGTATGCACA... | CTAGCCTGGCCAAAATGGTGAAACCTCATCTCTACTAAAGATACAAAAAATTAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGAATTTCTCGAACCCCAGAGGCAGAGGCTTCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAGTCCTGTTGGAAACCAATAAATTGATGTCAGGACTCCTATCACTTGGAGTTGGGTAAACATATCCCTGGGGTATGAACCTAGGAGGGGACACAGGGTGTATGCACA... |
Task1_train_27154 | Here is a mutation in COQ8B (coenzyme Q8B) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Nephrotic syndrome, type 9 | CTGTCTGCCCTGGGTGATGACCAACACCTGGCTGGACTGAGATTTAACAAGTATCTCCAAGGTGCCTACTCTGCACCTGCCTCTCAACTGGGTGCTGCTGGAAACCCAGTCACCACTTCCCTACCCGAAACCCTTCTATGACTTCTGGTTGCCCCAGAAGGATGAGTTCAGGTGTATTTCAGCCTTTGCATTACTTTTTCATTAATTTATTAATTCATTCATCCCAAAAGTAGTCACTGGTATCAAAATCTGTGAAGTCTATAGTGATACCCATGGGTCAGTCCTTGCAATCACTACTCTGAACACAGGTAAATAGCGGG... | CTGTCTGCCCTGGGTGATGACCAACACCTGGCTGGACTGAGATTTAACAAGTATCTCCAAGGTGCCTACTCTGCACCTGCCTCTCAACTGGGTGCTGCTGGAAACCCAGTCACCACTTCCCTACCCGAAACCCTTCTATGACTTCTGGTTGCCCCAGAAGGATGAGTTCAGGTGTATTTCAGCCTTTGCATTACTTTTTCATTAATTTATTAATTCATTCATCCCAAAAGTAGTCACTGGTATCAAAATCTGTGAAGTCTATAGTGATACCCATGGGTCAGTCCTTGCAATCACTACTCTGAACACAGGTAAATAGCGGG... |
Task1_train_27155 | A variant was discovered on Chromosome 19, affecting COQ8B (coenzyme Q8B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Nephrotic syndrome, type 9 | TTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTG... | TTGGGGTTTGTATTTTTGTCCTTGTTGATAAAAATCTCTGATGTTTGAACTGCTCCTCATGAACCGGAGCCATGTGGGGCATTTAATCGGCACACTCCCCTTTCATCCTCACTCCACAGTGAGGGGATGCTCTCTGGAGGCCACTGTACAGATTGTATGGATGCAGGCCACGTAACCTGTTAAGGGCTGACCCAGGATTTCATCCCGCATCTGAGTCTAGGGTGTGTGCCTCTAACCACTGCCTTCTACTGAGCTTTCACTCTCTGTCTACAGAGCTTGGCACGTTTTAGGCTGTCAATAAATGTGTGAGCCACACTGTG... |
Task1_train_27156 | Gene TGFB1 (transforming growth factor beta 1), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Diaphyseal dysplasia | GCATTCCTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCAC... | GCATTCCTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCAC... |
Task1_train_27157 | A variant affecting Chromosome 19, within the gene TGFB1 (transforming growth factor beta 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTT... | CTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTT... |
Task1_train_27158 | A change on Chromosome 19 affects gene TGFB1 (transforming growth factor beta 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Diaphyseal dysplasia | CTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTT... | CTGAATTCCAGTATGCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTT... |
Task1_train_27159 | This alteration in TGFB1 (transforming growth factor beta 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn genetic diseases | GCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCT... | GCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCT... |
Task1_train_27160 | This genomic variant is located on Chromosome 19, within the TGFB1 (transforming growth factor beta 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Diaphyseal dysplasia | GCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCT... | GCCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCT... |
Task1_train_27161 | This sequence change occurs on Chromosome 19, altering TGFB1 (transforming growth factor beta 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; See cases | CCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTT... | CCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTT... |
Task1_train_27162 | A variant affecting Chromosome 19, within the gene TGFB1 (transforming growth factor beta 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Diaphyseal dysplasia | CCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTT... | CCAGTATTGCATCCCAACATTCCAAAGTTCTGAGCCATCACTCAAGAGGTTCAAACTGACACTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTCGCATCATTGCCCAGGCCGGAGTGCAGTGGCGCGATCTCGGTTCACTGCAACCTCCACCCCCGAGGTTCCAGTGATTCTCCTGCCCCAGCCTGGGTACCTGGATAGCCGTAATCCCAGCCGAGTAGCTGGGATTACAGGTGCCAGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTT... |
Task1_train_27163 | A mutation on Chromosome 19 affecting LOC130064510, TGFB1 (ATAC-STARR-seq lymphoblastoid silent region 10661| transforming growth factor beta 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Diaphyseal dysplasia | TACGGCCCCCTTCGATCCTCCTCCTCCTCCCCAGTCTCCCTCCCCACCCAGCCCCAGTAAGCCCTATTCTTGGCCCGGAGGTTACTCAGCAAACCCCAAAGGAAAGGCAGAGCCTTGGCTGGGGAAGACAGATAGGGAGGAAGACAGAGAGGAGGGAGAGGAAGGGTTGGAGGGTGATGCAGAGAGGGAGAGGCGGGGAGATGTCAGAGACGGAGACGAGGCAACAGGACCGTGGAGGAGAAAAATAGAAAGGGAGAGAAAATAGTCGGAGAGACAAAAACCAGGAGACCCATGCGTGGACAGAAAGACTAACGGAGACG... | TACGGCCCCCTTCGATCCTCCTCCTCCTCCCCAGTCTCCCTCCCCACCCAGCCCCAGTAAGCCCTATTCTTGGCCCGGAGGTTACTCAGCAAACCCCAAAGGAAAGGCAGAGCCTTGGCTGGGGAAGACAGATAGGGAGGAAGACAGAGAGGAGGGAGAGGAAGGGTTGGAGGGTGATGCAGAGAGGGAGAGGCGGGGAGATGTCAGAGACGGAGACGAGGCAACAGGACCGTGGAGGAGAAAAATAGAAAGGGAGAGAAAATAGTCGGAGAGACAAAAACCAGGAGACCCATGCGTGGACAGAAAGACTAACGGAGACG... |
Task1_train_27164 | This variant affects the gene B9D2 (B9 domain containing 2) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Joubert syndrome and related disorders | TGGACAGGATCTGGCCGCGGATGGCCTCGATGCGCTTCCGCTTCACCAGCTCCATGTCGATAGTCTTGCAGGTGGATAGTCCCGCGGCCGGCCGGCCAGGCGTCAGCACCAGTAGCCACAGCAGCGGTAGCAGCAGCGGCAGCAGCCGCAGCCCGGAGGGCGGCATGGGGGAGGCGGCGCCCCCCGGCACTGCCGAGAGCGCGAACAGGGCTGGTGTGGTGGGGAGGCCCCGCCCCTGCAGGGGCTGGGGGTCTCCCGGCAAAAGGTAGGAGGGCCTCGAGGGAAAGCTGAGGTCCTCAGGGAGAAGGGCGCAGTGGTGG... | TGGACAGGATCTGGCCGCGGATGGCCTCGATGCGCTTCCGCTTCACCAGCTCCATGTCGATAGTCTTGCAGGTGGATAGTCCCGCGGCCGGCCGGCCAGGCGTCAGCACCAGTAGCCACAGCAGCGGTAGCAGCAGCGGCAGCAGCCGCAGCCCGGAGGGCGGCATGGGGGAGGCGGCGCCCCCCGGCACTGCCGAGAGCGCGAACAGGGCTGGTGTGGTGGGGAGGCCCCGCCCCTGCAGGGGCTGGGGGTCTCCCGGCAAAAGGTAGGAGGGCCTCGAGGGAAAGCTGAGGTCCTCAGGGAGAAGGGCGCAGTGGTGG... |
Task1_train_27165 | This sequence variant lies in B9D2 (B9 domain containing 2) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Familial aplasia of the vermis | CAAGTGCCAAGGCCCTGGGGGGGGACTGTCTGGTGGGGACAGTATGGCTGGAGCCCAGACGGAGTGTGCCTGGTGGGGACAGCATGGCTAGAGCAGAATGAGGTGGGGAGACGGGAAGGAGGTGCCAGCCTGGTTGTGGAGAGCCTTGTGATGCATGCTAAGACTATGGCTTTCACCCTGAGTGAGATGGGGACCATTGGAGGGTTCTGAGCAGAGCAGAGATGGGACCTGACTTAGGTGTTCACAGGGTCCCAGCTGCATGTGGGGTGCAGACCAGGGGGGTTGGGGAAGGGGACTCCAGAGACAAGATTCTTGTCATA... | CAAGTGCCAAGGCCCTGGGGGGGGACTGTCTGGTGGGGACAGTATGGCTGGAGCCCAGACGGAGTGTGCCTGGTGGGGACAGCATGGCTAGAGCAGAATGAGGTGGGGAGACGGGAAGGAGGTGCCAGCCTGGTTGTGGAGAGCCTTGTGATGCATGCTAAGACTATGGCTTTCACCCTGAGTGAGATGGGGACCATTGGAGGGTTCTGAGCAGAGCAGAGATGGGACCTGACTTAGGTGTTCACAGGGTCCCAGCTGCATGTGGGGTGCAGACCAGGGGGGTTGGGGAAGGGGACTCCAGAGACAAGATTCTTGTCATA... |
Task1_train_27166 | This mutation occurs in EXOSC5 (exosome component 5) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cerebellar ataxia, brain abnormalities, and cardiac conduction defects | CTCCTCTGCAAAATGGGACTTTCTGCACACCTCAGGCTGTAGTGAGGATTAAATGCATCATATGTGGAAATGACTGTCTGCTGTTGCTGTCTCCCTCTGAGCTTTTTTTTCTTTTCTTTTCTTTTTTTTGAGATAGGATCTCCCTCTGTCAACCCAGACTGGAGTGCAGTGGCCCGATCTTGGTTCACTGCAGCCTCGACCTTCCAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGGAGCTGGGACCACAGGCGTGTGCCACAATGCCTGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTGAGATGGAGTCTCGC... | CTCCTCTGCAAAATGGGACTTTCTGCACACCTCAGGCTGTAGTGAGGATTAAATGCATCATATGTGGAAATGACTGTCTGCTGTTGCTGTCTCCCTCTGAGCTTTTTTTTCTTTTCTTTTCTTTTTTTTGAGATAGGATCTCCCTCTGTCAACCCAGACTGGAGTGCAGTGGCCCGATCTTGGTTCACTGCAGCCTCGACCTTCCAGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAGGAGCTGGGACCACAGGCGTGTGCCACAATGCCTGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTGAGATGGAGTCTCGC... |
Task1_train_27167 | Located on Chromosome 19, this mutation impacts BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Maple syrup urine disease | TCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGT... | TCTGTCTTCCATGAAGGACACACTATTCCTTGCCTTTTGTCTTTTTTTGTGTGTGTGGCAGGGTCTCTGTTGCCCAGGCTGGGATGTGTTGGTGCAATCTGGGCTTATTGCAACCTCCGCTTCCCGGATTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGTGTGCGCAACCACGCCCAGCTAATTTTTGTATTTTTGGTAGACATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAGCCTCCCGAAGTGTTGGGATTACAGGCATAAGCCACTGTGCCTGGCCACTTTTTGTCTTTTGCATGT... |
Task1_train_27168 | This is a variant in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Maple syrup urine disease | ATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGT... | ATGTCCATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGT... |
Task1_train_27169 | This is a variant in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Maple syrup urine disease | ATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCT... | ATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCT... |
Task1_train_27170 | This sequence variant lies in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Maple syrup urine disease type 1A | ATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCT... | ATCCGTATGCCAGGGCTGCCCAGAGCCCCAGCCAGACTGCTTGTCAGAGCCCTGCTTGGCTTCTCGCCCTGGATGTCCCACAGCAAACTAATCCTGTCTGAACTTGACCTCGACATCTTCCTCCCAGGCGTGCTCCTTTGCCTCACCTAGTCCGTTTCTCAGTGAAGAGCACCACCATCCACCTGCTTGCCCACACCAGAAACCTCATCTCATCCCTGTCTCCTCCCTCCCCCTTGCTATCCCTTTCTCCCCTCTCATTCCCTCTGTCTGTAGATATTTCTTTTTTTTTTTTTTTTTTACTTTTGAGATGGAGTTTTGCT... |
Task1_train_27171 | A change on Chromosome 19 affects gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Maple syrup urine disease | GTTGCTGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACA... | GTTGCTGTCCCCACCCCATTCAGGGGCCTGAAGCCTGTGTGACCACACTCTGGATTTCCCAACCACATGCCTACTGCATTTGTCTGCTCACAAACATAGCCAACGTGTGCACCAGGTTCCACTGTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACA... |
Task1_train_27172 | A variant has been detected on Chromosome 19 in BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not specified | GTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCA... | GTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCA... |
Task1_train_27173 | This gene mutation involves BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Maple syrup urine disease | GTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCA... | GTGCCAATGCTTCACGTTCATCATCTAATAAGGACCCTCATTGTGGCCATGGGGACAGAGGTTATTATTTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCA... |
Task1_train_27174 | Chromosome 19 houses a mutation in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Maple syrup urine disease | TTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCAC... | TTGCTCTTGTTCCTGTTTTCAAGAGCAGGATGCCCGTGTTTTGTGTGTGTGTGAGAGACAGCAAGTGAATGGGAAAAAAAAAAGTGCAGGAGCCTGGCCAACATGGCAAAGCCCTGTCCCTACTAAACATACAAAAATTAGCTTGGCATGGTGGTGCACACCTGTAATCCTAGCTACTCAGGAGGCTGAAGCAGGAGGATTGCTTGAACCTGGGAGGCAGAGTTTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCAAAGTGAGATCCTGTCTCAAAAAAAAAAAAAAGGAAATTGAAGTCAAAGAGGGAAGTCAC... |
Task1_train_27175 | This variant affects the gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Maple syrup urine disease type 1A | CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTG... | CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTG... |
Task1_train_27176 | Here is a variant affecting BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Maple syrup urine disease | CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTG... | CTCGCTAACGGTCATGTGGCACAGAGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTG... |
Task1_train_27177 | A variant was discovered in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Maple syrup urine disease type 1A | AGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCC... | AGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCC... |
Task1_train_27178 | A variant was discovered in gene BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Maple syrup urine disease | AGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCC... | AGGGAGAGGAGCAGGGACTCAAGTCATTGACTGTGTACCTCCAGAGCCTGGGTTCTTGGCCCTGACCTTTGTCTGCCTCAGTCCTCAGAGTCAAGTAAGCTTCCCCAAAGCTTACCGTAGGTGCCCTGAAGTCCCTTCCCTTATAAGAGCTTTTTTGGGAAGCAAACCCACTGGGTGCCAGGCCTGCACCCTCATAGTGTGGAGAACAAGGAATCGGAGCCCCTTCCTGTCCTCCGGGGCCTGTAGCCTGATCTAGGGTTGGTCTGGGCCCTGGCTTCTTTGCCCTAGGGCAGCTGAGATGCATGAGTTTGTGTCTCTCC... |
Task1_train_27179 | A variant was discovered in gene RPS19 (ribosomal protein S19), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Diamond-Blackfan anemia | CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGG... | CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGG... |
Task1_train_27180 | A mutation in RPS19 (ribosomal protein S19), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Diamond-Blackfan anemia | CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGG... | CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGG... |
Task1_train_27181 | Here is a mutation in RPS19 (ribosomal protein S19) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Diamond-Blackfan anemia 1 | CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGG... | CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGG... |
Task1_train_27182 | A genetic alteration is present in RPS19 (ribosomal protein S19) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Diamond-Blackfan anemia | CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGG... | CAGTGAACCAAGATCACATCATTGCACTCCCGCCTGGGCGACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGG... |
Task1_train_27183 | This is a variant in RPS19 (ribosomal protein S19), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | ACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTAT... | ACAAAGCGAGACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTAT... |
Task1_train_27184 | This variant affects the gene RPS19 (ribosomal protein S19) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Diamond-Blackfan anemia | ACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAA... | ACTCCAACTCAAAAAAAATTAAATAATAATTACTTAAATTATAAAAAGTGAATATAAATTACCCAAGTACCTGGAGATTTCCAGTTAGACATGCATATATTACCCACTTTGAATACATATGGAAATATGTATGTGTTGGTTCTGGAAAAACAATTGAGATAATGAAAATATTTTCTCAAGTTTTAGAAACAGTATGAGATAGGTTTCAACAACATTCTACATGAATGTAAAACCTTGATTTAAATATATGATCTTATGCTAGAAGCATGGTTGGTTTTAATTTTTCTAACAGATACGAGTCTTGGCTTATTAATAATTAA... |
Task1_train_27185 | This is a variant in RPS19 (ribosomal protein S19), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; RPS19-related disorder | GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTT... | GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTT... |
Task1_train_27186 | This variant impacts the gene RPS19 (ribosomal protein S19) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Diamond-Blackfan anemia 1 | GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTT... | GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTT... |
Task1_train_27187 | The variant affects gene RPS19 (ribosomal protein S19), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Diamond-Blackfan anemia | GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTT... | GCGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTT... |
Task1_train_27188 | An alteration has been detected in RPS19 (ribosomal protein S19) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Diamond-Blackfan anemia | CGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTT... | CGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTT... |
Task1_train_27189 | Here’s a variant in RPS19 (ribosomal protein S19) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Diamond-Blackfan anemia | CGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTT... | CGACAGAGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTT... |
Task1_train_27190 | This variant lies on Chromosome 19 and affects the gene RPS19 (ribosomal protein S19). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Diamond-Blackfan anemia | AGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTT... | AGCGAGAGACTCCATCTCAGAAAAAAAAAATATCGGGGCCAGCACAGTGGCACACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTT... |
Task1_train_27191 | Here’s a variant in RPS19 (ribosomal protein S19) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Diamond-Blackfan anemia 1 | GTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAAC... | GTAATCCCAGCACTTTGGGAGGCCAAGATGGGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAAC... |
Task1_train_27192 | This variant lies on Chromosome 19 and affects the gene RPS19 (ribosomal protein S19). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Diamond-Blackfan anemia 1 | GGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGAT... | GGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGAT... |
Task1_train_27193 | The gene RPS19 (ribosomal protein S19) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Diamond-Blackfan anemia | GGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGAT... | GGTGGTTCACTTCACTCCAGGAGTTCAGCCAGAGCAACATGGCAAAACCGGGTCTCTTCAGAAATTATCTGGGCGTGGTGGCTTGCACCTGTAGTCCCAACTATTCAGGAGGTCAAAGCTGCAGTGAGCTGTTACCACTGCACTCCAGCCTGGGTGACAGAATGATGCCCTGTCTCCAAAAAAAAAAAAAAGTATAATATTTGCATATATCCTATGTAGATGTTTTACTTTTGAGACAGAGTCTCACTCTGTCACCCAGTCTGGAGTGCAGTGGCATGATCTTGGCTAACTGCAACCTCTGCCTCCCAGGTTCAAGTGAT... |
Task1_train_27194 | The gene RPS19 (ribosomal protein S19), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Diamond-Blackfan anemia | GAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCC... | GAGGCTGAGGCAAGAGGATTGCTTAAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATGATCACACCACAGCACCCCAGCCTGGGTGACAGAATGAGGCCCTTTTTTTGTGTTTTAAGAAAAAAGAAAAAGCACTAATACGGTGTAAATAATTGTTACACTGTTTTGAATTGTAGTTTTTTTCCCCTAAATATTTTTGATCCACCCTTGGTTGAGTCTGTGGATATGAAGGGCTGGCTGTATCTGGACCTGATCTCAGGGCAGGAGTGGGCTGGGAACAAGCGGTGTGTAAGAACTGTTTCTGGGCAGAAGCAGCCCACCCC... |
Task1_train_27195 | This variant affects gene CD79A (CD79a molecule) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Inherited Immunodeficiency Diseases | TAGCGAGGGCCACTGGAGCCCATCTCCGGGGGGCTGGGCAGGAAGTAGGGTGGGGTTTGGGGTAGGGATCTGGTACCCTGGGACTGCTGCAACTCAAACTAACCAACCCACTGGGAGAAGATGCCTGGGGGTCCAGGAGTCCTCCAAGCTCTGCCTGCCACCATCTTCCTCCTCTTCCTGCTGTCTGCTGTCTACCTGGGTATGTGGCCAAAGGGCAGGAACTGGCGGGAGGTGGGGGAAGCTGTGGAGGCTGCAGAGAGGGCACAGGCAGAGGGAAGGGGGCTCAGGGAAAGGGGAAGAGGAGGCAGAGGATAGGGGAC... | TAGCGAGGGCCACTGGAGCCCATCTCCGGGGGGCTGGGCAGGAAGTAGGGTGGGGTTTGGGGTAGGGATCTGGTACCCTGGGACTGCTGCAACTCAAACTAACCAACCCACTGGGAGAAGATGCCTGGGGGTCCAGGAGTCCTCCAAGCTCTGCCTGCCACCATCTTCCTCCTCTTCCTGCTGTCTGCTGTCTACCTGGGTATGTGGCCAAAGGGCAGGAACTGGCGGGAGGTGGGGGAAGCTGTGGAGGCTGCAGAGAGGGCACAGGCAGAGGGAAGGGGGCTCAGGGAAAGGGGAAGAGGAGGCAGAGGATAGGGGAC... |
Task1_train_27196 | This sequence variant lies in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Alternating hemiplegia of childhood 2 | CTCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGC... | CTCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGC... |
Task1_train_27197 | A variant found in Chromosome 19 affects ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Dystonia 12 | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... |
Task1_train_27198 | Located on Chromosome 19, this mutation impacts ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Dystonia 12 | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... |
Task1_train_27199 | This mutation is located in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Alternating hemiplegia of childhood 2 | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... |
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