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_28800 | The gene PLA2G6 (phospholipase A2 group VI), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Infantile neuroaxonal dystrophy | CCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATC... | CCAGGGGTTGCTGGGACGGAAGACATCCACACAGGTCACAGGCACTTGTGGGGACCTCCCTGTCCCCAGGGAGACAACGATGGAGAGTTTCTTCACCTTGTTGGCCTGACCCTGTTGGGAACAGGACAGGGGCAGTCAGAAGAGACCTTCCACAGGTAGGGGGCACGAAGGGGAGCGTCAAGGGGAGGCCCAAGACTGGGCTCTGGGGCACATGAGAACAGGGCAAGAGGTCTCTGGTGGCAAGAGCATGCCTGGCATGATTTCCAGCCAGCCTCTTGCACGTGACCCCAGAACGGCTGGTGCGGGCATCACATGCCATC... |
Task1_train_28801 | This gene mutation involves PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is it associated with any clinical condition, or is it benign? | Pathogenic; Infantile neuroaxonal dystrophy | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTG... | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTG... |
Task1_train_28802 | A genetic alteration is present in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive Parkinson disease 14 | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTG... | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTG... |
Task1_train_28803 | This mutation occurs in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neurodegeneration with brain iron accumulation 2B | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTG... | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTG... |
Task1_train_28804 | With a mutation on Chromosome 22 in gene PLA2G6 (phospholipase A2 group VI), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Infantile neuroaxonal dystrophy | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTG... | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTG... |
Task1_train_28805 | Chromosome 22 houses a mutation in gene PLA2G6 (phospholipase A2 group VI). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neurodegeneration with brain iron accumulation | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTG... | GGTAGGGAAGTAGGGGCTAAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTG... |
Task1_train_28806 | Here is a genetic alteration in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not specified | AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC... | AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC... |
Task1_train_28807 | This alteration occurs within gene PLA2G6 (phospholipase A2 group VI) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Infantile neuroaxonal dystrophy | AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC... | AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC... |
Task1_train_28808 | Here is a mutation in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Iron accumulation in brain | AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC... | AAGGCTTGAACCTGAGCCCTGGGTGCTGCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCATCCCGAGTAGCTGGGACTACAGGCTCCTGCCACTATGCCCGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACTTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC... |
Task1_train_28809 | This variant lies on Chromosome 22 and affects the gene PLA2G6 (phospholipase A2 group VI). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal recessive Parkinson disease 14 | TCACAGCCCACTGTAGCCTCAGCCTCCGGGGCTCAAGTGATCCTCCCACCTCAGCCTCTCAATTAGCTGGGACTACAGCCATAGTGCCACCATGCCCAGCTAATTGTTAGTTTTAAATTTTTTGTAGAGATGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGACCTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCTTGAGCCACCATGCCTGGCATATTCCTATTTTTGAGAAGAGGTAGAAACTTCAGGGTCTATGCTTGTATCCACTTCTCTCTACTGCCCCCAAGAATA... | TCACAGCCCACTGTAGCCTCAGCCTCCGGGGCTCAAGTGATCCTCCCACCTCAGCCTCTCAATTAGCTGGGACTACAGCCATAGTGCCACCATGCCCAGCTAATTGTTAGTTTTAAATTTTTTGTAGAGATGAGGGTCTCACTATGTTGCCCAGGCTGGTCTCGACCTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCTTGAGCCACCATGCCTGGCATATTCCTATTTTTGAGAAGAGGTAGAAACTTCAGGGTCTATGCTTGTATCCACTTCTCTCTACTGCCCCCAAGAATA... |
Task1_train_28810 | Located on Chromosome 22, this mutation impacts PLA2G6 (phospholipase A2 group VI). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Infantile neuroaxonal dystrophy | GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAA... | GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAA... |
Task1_train_28811 | Mutation context: Chromosome 22, Gene PLA2G6 (phospholipase A2 group VI). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neurodegeneration with brain iron accumulation 2B | GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAA... | GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAA... |
Task1_train_28812 | This mutation occurs in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive Parkinson disease 14 | GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAA... | GGAGGCTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTATTAAAAATACAAAAATTCGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGCAGGAGAATCGCTTGAACCCGGGAGCGGAGGTTGCAGTGAGCCAAGATGCACCACTGCACTCCAGCCTGGGCAACGGAGAGACTCAAAAACCACTGAAGCCCCACGGCTCTGCACTTCATCTTGTATTCATGATTTTGTATTATTTTCCTTAAAGAAGAGCCCCTCAAGAGTAA... |
Task1_train_28813 | The gene PLA2G6 (phospholipase A2 group VI) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurodegeneration with brain iron accumulation 2B | CAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAA... | CAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAA... |
Task1_train_28814 | This variant impacts the gene PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is the change likely to result in a pathogenic outcome? | Pathogenic; Infantile neuroaxonal dystrophy | CAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAA... | CAGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAA... |
Task1_train_28815 | Consider this mutation in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Neurodegeneration with brain iron accumulation | GAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCT... | GAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCT... |
Task1_train_28816 | Given a variant located on Chromosome 22 and affecting PLA2G6 (phospholipase A2 group VI), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Infantile neuroaxonal dystrophy | GAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCT... | GAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCT... |
Task1_train_28817 | With a mutation on Chromosome 22 in gene PLA2G6 (phospholipase A2 group VI), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; PLA2G6-associated neurodegeneration | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAG... | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAG... |
Task1_train_28818 | This mutation is located in gene PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Infantile neuroaxonal dystrophy | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAG... | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAG... |
Task1_train_28819 | Located on Chromosome 22, this mutation impacts PLA2G6 (phospholipase A2 group VI). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive Parkinson disease 14 | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAG... | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAG... |
Task1_train_28820 | This mutation occurs in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Infantile neuroaxonal dystrophy | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAG... | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAG... |
Task1_train_28821 | The gene PLA2G6 (phospholipase A2 group VI) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neurodegeneration with brain iron accumulation 2B | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAG... | CGCATGAACGTAATCCCAGCTACTCGGGAAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAAAGCGAAACTCTGTCTCAAAATAAATAAATAAAAGTAAGCCAATTTGAAGAGGTGATTAAGTACATAATTGTAAAGGTGGTTGATGAATATGCCAAAAACTGTGAAGATGGGATGAAGATGACCAAAGTCTATCAGCAGTTCTTAAAGTAAGACCTGGGGACCCCTGTGAACACGTGATACCCTTTCAGAGGTCTCACACCCAG... |
Task1_train_28822 | Gene PLA2G6 (phospholipase A2 group VI) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Iron accumulation in brain | TCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCT... | TCTGCGGGAGACGGTCAGGCTGAGTTAGCACAGGCACTCGGGGAGCTGCCGCACCCCGGGACACGTGGGCACTGCCACTTCTGCTCTGAGAGGCCTACAGGTACTGGGATGTTGGAAAGCGCTAGCAAGAGGATTCCAGGGGCAGGCCCCAGTTCTAGGGGGGCCTAGACTGCCTCCCATCCCATCAGCATCCCAAGACTAGGGACAAAAAGCCAAAGATGTGCTGACTGTTTTAAGAGGCTTCTGGTCCTTTCCTAGTGCCAACAGAACCCACTCTCCTTGCAAAGGCTCCTCTGGGGCCTGTCCTGAAGCACCCCGCT... |
Task1_train_28823 | Consider a variant on Chromosome 22 in gene PLA2G6 (phospholipase A2 group VI). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive Parkinson disease 14 | GCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCCTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTTGCTAATTTTTTGTA... | GCAATTCACTTAACCTTTCTGGGCGTCAATATCCTTATCGACACAAGCTGCTGTGCCTGCCCCAGGAAATGGACAGAGTGATGGTGAGATGAGACAGTGCTGTCCAAAAGCACGCCTGGAAACTAAAGTGCAGTGAGGGTTTTTGTTTTGTTTTGTTTTTTTGAGGTGGAGTTTCACTCTTGTTGCCCAGGCTGTAATGCAGTGACACAATCTCGGCTCACTGCAACCTCCGCCTCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTTGCTAATTTTTTGTA... |
Task1_train_28824 | This mutation occurs in PLA2G6 (phospholipase A2 group VI) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Infantile neuroaxonal dystrophy | ATCTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAA... | ATCTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAA... |
Task1_train_28825 | This is a variant in PLA2G6 (phospholipase A2 group VI), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Infantile neuroaxonal dystrophy | CTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGC... | CTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGC... |
Task1_train_28826 | A variant has been detected on Chromosome 22 in PLA2G6 (phospholipase A2 group VI). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; PLA2G6-associated neurodegeneration | CTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGC... | CTGGAATCCTGTCAAGGGATTTTACAACTGACAGAACTTGGTGATTATTGGTACGTGGAGATTAGTGGTATCCCCAGGGCCGTGTACCTCAAAAGTGGGGCTGTCCAGCTCTCCAAGGAGTGGACCCGCTGCCCTGGTCAGCTGTGCCTGCAGTGGAGCTCTGAAGCTACAAGTGCAAGCCTGCCCCGTCCAGGGTCAGTCCTGATCGAGTCCAGCTGGAAGGCGGTCTGCTCAGCCCCATCTGCACTCAGAATCTGGAATGGCCCCACTGTATTAAAACTGGTGCCTGCACTGGCCACTGAGCTGCATTTAGCCCAAGC... |
Task1_train_28827 | A sequence alteration has been identified in DMC1 (DNA meiotic recombinase 1) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Azoospermia | CTTTGAAAAGTGAAAGGGAGGGAATCACGTACTCCTTTCCCAACAACTAGTTTTCCATAGGTATATATACATACACAGAGTGAGAGAATTTCAATAGGTATATATATCTACTATATATGTCAGGTATACACACACAAACACACACACACACAAACATACATATACATATCCCTGAATTTACATACAATGTATAGTTATCATAAATCAGGGACTTTTAAGATAAATATAAGATTTAAATCTCTTTGCTGACTTTTCTTTAGTAACATGTGGGAAAAAACCTCTATTTCAAGATGTGAAATTGGAGACTGCTTTTCCATTTC... | CTTTGAAAAGTGAAAGGGAGGGAATCACGTACTCCTTTCCCAACAACTAGTTTTCCATAGGTATATATACATACACAGAGTGAGAGAATTTCAATAGGTATATATATCTACTATATATGTCAGGTATACACACACAAACACACACACACACAAACATACATATACATATCCCTGAATTTACATACAATGTATAGTTATCATAAATCAGGGACTTTTAAGATAAATATAAGATTTAAATCTCTTTGCTGACTTTTCTTTAGTAACATGTGGGAAAAAACCTCTATTTCAAGATGTGAAATTGGAGACTGCTTTTCCATTTC... |
Task1_train_28828 | A mutation in DMC1 (DNA meiotic recombinase 1), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Azoospermia | CCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGTGTGAACTCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGTTTAAGACCCTACCACCTGGGGTAAAGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGATGAGATGAATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACATGG... | CCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGTGTGAACTCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAAAGTTTAAGACCCTACCACCTGGGGTAAAGTGCGGTGACTCACACCTGTAATCCCAGCACTTTGGGAGGATGAGATGAATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCAAACATGG... |
Task1_train_28829 | A variant on Chromosome 22 in gene PDGFB (platelet derived growth factor subunit B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Basal ganglia calcification, idiopathic, 5 | GGTGGTCAGGGCAGACTTCTAGGAGGAGGTGACTTCTGAGCTGAGACTCTAATGAAGAGAAGGAGCTAGGCTTGTGGAGAGCTGGGAGAAGTGTTCTTCAGCCACAGCAGTGTGTGCTAAAGCCTTGAGGCAGAAACTCCATTAGTTACTGAAAGAGGCCTGCCCGGCGGGGGTGGCACAGGTGAAGGGTACTGGTTGGCAGAGACCAGAGAGCCAGCCAGGGGCTAATCCTCATGTAGGGCTCTCAGGCCAGGGAGGAACCTGGCTTGTGTCTCAGCAAGATGAAAAGAAAGCCTCCCGTGAATTTAACCGGGGGCGGG... | GGTGGTCAGGGCAGACTTCTAGGAGGAGGTGACTTCTGAGCTGAGACTCTAATGAAGAGAAGGAGCTAGGCTTGTGGAGAGCTGGGAGAAGTGTTCTTCAGCCACAGCAGTGTGTGCTAAAGCCTTGAGGCAGAAACTCCATTAGTTACTGAAAGAGGCCTGCCCGGCGGGGGTGGCACAGGTGAAGGGTACTGGTTGGCAGAGACCAGAGAGCCAGCCAGGGGCTAATCCTCATGTAGGGCTCTCAGGCCAGGGAGGAACCTGGCTTGTGTCTCAGCAAGATGAAAAGAAAGCCTCCCGTGAATTTAACCGGGGGCGGG... |
Task1_train_28830 | Gene PDGFB (platelet derived growth factor subunit B), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Basal ganglia calcification, idiopathic, 5 | AAAAAAGTAGGTGCTGTGGTGCTGATGGGAGGTTCTCCCTCCCTCACAGGACGCCAGGAAGGAAATGGGGCCGCTACAGAGGTGGTGAGGTGCCAGGGCCCACGGAGGGCCCACCTGTTGCGCGGGGGCGAGCACCAGGCGCTGGGTGCACGGGGGCCCGTGCGTGCCTGTGTACGTGCGTGGGTGTGCGCGCACGTGTGCTCAGGCCGCGCGTGCAGGGGCCGTGCGTGCGTTTGTGTGCGGTGCGCGCGCGTGTGTCCCGCGTGTGCACGGGCGTGGCAGAGGCGGGCGCGCGACCTGGCCGCGGTAGTGCGTGCCCG... | AAAAAAGTAGGTGCTGTGGTGCTGATGGGAGGTTCTCCCTCCCTCACAGGACGCCAGGAAGGAAATGGGGCCGCTACAGAGGTGGTGAGGTGCCAGGGCCCACGGAGGGCCCACCTGTTGCGCGGGGGCGAGCACCAGGCGCTGGGTGCACGGGGGCCCGTGCGTGCCTGTGTACGTGCGTGGGTGTGCGCGCACGTGTGCTCAGGCCGCGCGTGCAGGGGCCGTGCGTGCGTTTGTGTGCGGTGCGCGCGCGTGTGTCCCGCGTGTGCACGGGCGTGGCAGAGGCGGGCGCGCGACCTGGCCGCGGTAGTGCGTGCCCG... |
Task1_train_28831 | A variant found in Chromosome 22 affects PDGFB (platelet derived growth factor subunit B). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | AAAAAGTAGGTGCTGTGGTGCTGATGGGAGGTTCTCCCTCCCTCACAGGACGCCAGGAAGGAAATGGGGCCGCTACAGAGGTGGTGAGGTGCCAGGGCCCACGGAGGGCCCACCTGTTGCGCGGGGGCGAGCACCAGGCGCTGGGTGCACGGGGGCCCGTGCGTGCCTGTGTACGTGCGTGGGTGTGCGCGCACGTGTGCTCAGGCCGCGCGTGCAGGGGCCGTGCGTGCGTTTGTGTGCGGTGCGCGCGCGTGTGTCCCGCGTGTGCACGGGCGTGGCAGAGGCGGGCGCGCGACCTGGCCGCGGTAGTGCGTGCCCGT... | AAAAAGTAGGTGCTGTGGTGCTGATGGGAGGTTCTCCCTCCCTCACAGGACGCCAGGAAGGAAATGGGGCCGCTACAGAGGTGGTGAGGTGCCAGGGCCCACGGAGGGCCCACCTGTTGCGCGGGGGCGAGCACCAGGCGCTGGGTGCACGGGGGCCCGTGCGTGCCTGTGTACGTGCGTGGGTGTGCGCGCACGTGTGCTCAGGCCGCGCGTGCAGGGGCCGTGCGTGCGTTTGTGTGCGGTGCGCGCGCGTGTGTCCCGCGTGTGCACGGGCGTGGCAGAGGCGGGCGCGCGACCTGGCCGCGGTAGTGCGTGCCCGT... |
Task1_train_28832 | Chromosome 22 houses a mutation in gene CACNA1I (calcium voltage-gated channel subunit alpha1 I). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neurodevelopmental disorder with speech impairment and with or without seizures | CCTGCTTTCCTGTCTTGCTCTGCATCTTAGCCGTGTGACCTCAGGCTGGCCTCCAAGCCTCTTTTTCCTCATCCGTAAAATGCGTATCAGAACACTTCCCTGGTAGTGTGCTACAAGCCTCATTTCCAAATTTGTGGAAGGTCAGCGCTGTGGGGTCCCCCAACCCTCACCATCTCAGCAGACCTCTCACGACCCCAAGGTAGCAGAGTTGAGAGGGGCCCTCGGGGCCTTGTGCATGGGGCAGTGGGGAGACGGAGGTATGGTGAGGACACCGACCTGCCAGGGTCACACAGCCAGGGTGGGTGTCCAGAGGGGATCCA... | CCTGCTTTCCTGTCTTGCTCTGCATCTTAGCCGTGTGACCTCAGGCTGGCCTCCAAGCCTCTTTTTCCTCATCCGTAAAATGCGTATCAGAACACTTCCCTGGTAGTGTGCTACAAGCCTCATTTCCAAATTTGTGGAAGGTCAGCGCTGTGGGGTCCCCCAACCCTCACCATCTCAGCAGACCTCTCACGACCCCAAGGTAGCAGAGTTGAGAGGGGCCCTCGGGGCCTTGTGCATGGGGCAGTGGGGAGACGGAGGTATGGTGAGGACACCGACCTGCCAGGGTCACACAGCCAGGGTGGGTGTCCAGAGGGGATCCA... |
Task1_train_28833 | Gene CACNA1I (calcium voltage-gated channel subunit alpha1 I) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurodevelopmental disorder with speech impairment and with or without seizures | CTGCTTTCCTGTCTTGCTCTGCATCTTAGCCGTGTGACCTCAGGCTGGCCTCCAAGCCTCTTTTTCCTCATCCGTAAAATGCGTATCAGAACACTTCCCTGGTAGTGTGCTACAAGCCTCATTTCCAAATTTGTGGAAGGTCAGCGCTGTGGGGTCCCCCAACCCTCACCATCTCAGCAGACCTCTCACGACCCCAAGGTAGCAGAGTTGAGAGGGGCCCTCGGGGCCTTGTGCATGGGGCAGTGGGGAGACGGAGGTATGGTGAGGACACCGACCTGCCAGGGTCACACAGCCAGGGTGGGTGTCCAGAGGGGATCCAC... | CTGCTTTCCTGTCTTGCTCTGCATCTTAGCCGTGTGACCTCAGGCTGGCCTCCAAGCCTCTTTTTCCTCATCCGTAAAATGCGTATCAGAACACTTCCCTGGTAGTGTGCTACAAGCCTCATTTCCAAATTTGTGGAAGGTCAGCGCTGTGGGGTCCCCCAACCCTCACCATCTCAGCAGACCTCTCACGACCCCAAGGTAGCAGAGTTGAGAGGGGCCCTCGGGGCCTTGTGCATGGGGCAGTGGGGAGACGGAGGTATGGTGAGGACACCGACCTGCCAGGGTCACACAGCCAGGGTGGGTGTCCAGAGGGGATCCAC... |
Task1_train_28834 | This variant affects the gene CACNA1I (calcium voltage-gated channel subunit alpha1 I) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neurodevelopmental disorder with speech impairment and with or without seizures | AGCACTTTTTCTTCTATAACAGTAACTACAAGAGTATGTGGCAGGCACATAGTAGGTCCTTAGGAAAGTTTGTTGGACGAGGGCACAGCTCTGCCACACAGAGAAGACCTCTTTGTCCCTCTGCCTCCCAAGGGCAGAAGAATAGAGAGCTGAGGAGGGGTGGCTGCAGCTGGAGTCACTCACAGTCCTCACCCCTGCATTCCGCCTCCCCATGTCTCCCAGGCTCTGATGTCCCTCTTTGTCCTGGCATCCAAGGATGGTTGGGTGAACATCATGTACAATGGACTGGATGCTGTTGCTGTGGACCAGCAGGTGGGTGT... | AGCACTTTTTCTTCTATAACAGTAACTACAAGAGTATGTGGCAGGCACATAGTAGGTCCTTAGGAAAGTTTGTTGGACGAGGGCACAGCTCTGCCACACAGAGAAGACCTCTTTGTCCCTCTGCCTCCCAAGGGCAGAAGAATAGAGAGCTGAGGAGGGGTGGCTGCAGCTGGAGTCACTCACAGTCCTCACCCCTGCATTCCGCCTCCCCATGTCTCCCAGGCTCTGATGTCCCTCTTTGTCCTGGCATCCAAGGATGGTTGGGTGAACATCATGTACAATGGACTGGATGCTGTTGCTGTGGACCAGCAGGTGGGTGT... |
Task1_train_28835 | Chromosome 22 houses a mutation in gene TNRC6B (trinucleotide repeat containing adaptor 6B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Global developmental delay with speech and behavioral abnormalities | AAAGTCTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGCACCATCTTGGCTCACCACAACCTCCGCCTCCCAGCTTGAGGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTGCATGTTGGTCAGGCTGGTCTTGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCTCTAAAGTCTTTTTTTA... | AAAGTCTTTTTTTTTTTTTTTTGAGATGGAATTTCACTCTTGTTGCCCATGCTGGAGTGCAATGGCACCATCTTGGCTCACCACAACCTCCGCCTCCCAGCTTGAGGCAATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCGCCATCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTGCATGTTGGTCAGGCTGGTCTTGAACTCTTGACCTCAGGTAATCCACCCACCTCAGCCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCAGCTCTAAAGTCTTTTTTTA... |
Task1_train_28836 | A mutation in ADSL (adenylosuccinate lyase), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Adenylosuccinate lyase deficiency | GAAGAATGAAGCATCAACTTAATAAACTCTTGGCGTAGATAGCGATAGTAGTAGACCTTAATCATGTGTTGTGGTTTGTGATGTACTAGTGTGTACTCTTTCTATTTCATCTGATATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAA... | GAAGAATGAAGCATCAACTTAATAAACTCTTGGCGTAGATAGCGATAGTAGTAGACCTTAATCATGTGTTGTGGTTTGTGATGTACTAGTGTGTACTCTTTCTATTTCATCTGATATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAA... |
Task1_train_28837 | This alteration occurs within gene ADSL (adenylosuccinate lyase) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Adenylosuccinate lyase deficiency | CTAGTGTGTACTCTTTCTATTTCATCTGATATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGG... | CTAGTGTGTACTCTTTCTATTTCATCTGATATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGG... |
Task1_train_28838 | Given this variant in gene ADSL (adenylosuccinate lyase) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Adenylosuccinate lyase deficiency | ATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCT... | ATTCTATTCTGTAGATGAGGGTAGTGGTACTCAAGACTTTGCCAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCT... |
Task1_train_28839 | This alteration occurs within gene ADSL (adenylosuccinate lyase) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Severe global developmental delay | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... |
Task1_train_28840 | This mutation is located in gene ADSL (adenylosuccinate lyase) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inability to walk | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... |
Task1_train_28841 | A sequence alteration has been identified in ADSL (adenylosuccinate lyase) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Difficulty standing | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... |
Task1_train_28842 | Gene ADSL (adenylosuccinate lyase) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Generalized myoclonic seizure | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... |
Task1_train_28843 | A variant was discovered in gene ADSL (adenylosuccinate lyase), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Progressive neurologic deterioration | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... |
Task1_train_28844 | This alteration occurs within gene ADSL (adenylosuccinate lyase) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... |
Task1_train_28845 | A variant was discovered on Chromosome 22, affecting ADSL (adenylosuccinate lyase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Adenylosuccinate lyase deficiency | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... | CAGGGTCGCCAAAGCTAGTAAATGGCTTCAAGCTGGAATTGGAATGTAGAGTCTGAGTATGTGTTCTTTGTGTTGGCCTAAAATGCATACAATTTTGGCTTTGGATTATCTGTTAGGGTGTCAAAATTACCATAAATTGCATAATAACTTAGTAGCTAAGAAAAAACTTGGAGAATAAGAGATTAGGAGGAATGCAGAAAATTTGTAGTAAGGAAAGTATGAATTTTGAAAAGATAAATTGCTTGAGGGGAGGAAGCAGTATGGCCGTGCTGCCCTCTGCTGCTTTGCTTTGGAAGGAGCCCAGAGGTGTCATGTCTTCT... |
Task1_train_28846 | A variant has been detected on Chromosome 22 in ADSL (adenylosuccinate lyase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Adenylosuccinate lyase deficiency | AGTGGCTTGATTTGGGCTTTTTTTTTTTTTTTTTTTTTTTGACATGGAGTTTCGCTTTTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCTGTGTTGGTCAGGCTGGTCTCAAACTCCCGATCTCAGGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCATGGCACCCTA... | AGTGGCTTGATTTGGGCTTTTTTTTTTTTTTTTTTTTTTTGACATGGAGTTTCGCTTTTGTCATCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACCGCAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCGAGTAGCTAGGATTACAGGCATGCACCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCTGTGTTGGTCAGGCTGGTCTCAAACTCCCGATCTCAGGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCATGGCACCCTA... |
Task1_train_28847 | Given a variant located on Chromosome 22 and affecting ADSL (adenylosuccinate lyase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Adenylosuccinate lyase deficiency | ATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTT... | ATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTT... |
Task1_train_28848 | An alteration has been detected in ADSL (adenylosuccinate lyase) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Adenylosuccinate lyase deficiency | ATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTT... | ATAAGGATGTGTCTTTTCTTTCCAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGGTAGGTAAATGGGAATGTGTTGGCCTCCCTGTTAAGTTGATGGAAGTCCTATATTCAGTATACCTGCAGATTTGACCTTACAATTTTTGCCTTTTTCTTCCTTTGTTCTTCTACCCATTTTTTTTTTTCCTGTCTCTATCCTGGGTTTTACTTTCTTACTATCTGGATTCTTTTTTTTTTTTTTTTTTTTTCGCCTAATCGTCTTGCTGACATATTTTCTGGATTTCATTTTATTTTATTATTGTTT... |
Task1_train_28849 | A mutation in ADSL (adenylosuccinate lyase), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Adenylosuccinate lyase deficiency | ACACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAA... | ACACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAA... |
Task1_train_28850 | This is a variant in ADSL (adenylosuccinate lyase), located on Chromosome 22. Is this mutation a likely cause of disease or not? | Pathogenic; Adenylosuccinate lyase deficiency | CACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAAT... | CACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAAT... |
Task1_train_28851 | The following genetic variant occurs in ADSL (adenylosuccinate lyase) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | CACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAAT... | CACACACTGCATTTCACTGAAATTATTTGTTTAAAGACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAAT... |
Task1_train_28852 | Consider this mutation in ADSL (adenylosuccinate lyase) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Adenylosuccinate lyase deficiency | GACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTAT... | GACATACTGAATGGCTATTTGTTTTCTAGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACTATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAAGAAGCCTCAATTCAAAAGTAAAGTACTAGGGAGGGGTTAGAATGTGGGAGGGAGGGTGCTCTGGGGTGTGTTGAGGGAGCTGTATTCTGATCCGATAGGCATTCTTCCCACCCGAGCTCATCCTTCAGTTCATAAGCTCTAGGGAACTAGCTCTGTGGAATTCATAGACACATTATAGAAACAGAAAAAGAAGTAT... |
Task1_train_28853 | A genetic alteration is present in XPNPEP3 (X-prolyl aminopeptidase 3) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Nephronophthisis-like nephropathy 1 | GCATGATGCTGACCCTGATAGGACAGAAGCTTAAAGACTTGGGGATCATGAAGAACATTAAGGAAAATAATGCCTTCAAGGTACTTCACTTCTCTTGACCCCAGTTCTCAAGAACACCTAGCATGCTGCTAGGTTTTTACCCTATATAAAGCTAATTAGACTTAGAAATGGGACAGATGTAGTGATTCATGCCTGTAATCCCAGTAGTTTAGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCAGCCTGGGCAACATAGCAAGACCCATCTATATACATGTAGATATATACACACACACACACACACACACACATATATAT... | GCATGATGCTGACCCTGATAGGACAGAAGCTTAAAGACTTGGGGATCATGAAGAACATTAAGGAAAATAATGCCTTCAAGGTACTTCACTTCTCTTGACCCCAGTTCTCAAGAACACCTAGCATGCTGCTAGGTTTTTACCCTATATAAAGCTAATTAGACTTAGAAATGGGACAGATGTAGTGATTCATGCCTGTAATCCCAGTAGTTTAGGAGGCTGAGGCAGGAGGATTGCTTGAAGCCAGCCTGGGCAACATAGCAAGACCCATCTATATACATGTAGATATATACACACACACACACACACACACACATATATAT... |
Task1_train_28854 | The gene EP300 (E1A binding protein p300) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CTAAACCTTAAGGCAGTACATCTCTAACTTTGAAAAGAGTAGGAACAAGACCCTTCCCAATTCTGCAGGCCTGTAGTGGATCCAAGTGTCTATTTCTAACTCCCAGATTGTTCTGGTGCTGCTCATCTTCAGATTGCACTTGGAGTAGCAAGACAGGCCATTCAGGAAAATGCTATTAACAGAGATGAATGAATCTCTAGGCCATAACTAGTATAAGAAACGGTTTTCAATGTGGACATGTCCTCATTTTTGTAAGGAAGTATAACAGAAGTCCAAGTTGGTCCCCCTAATGTTGATTCTAGTTGGAGAATGTGGATCCT... | CTAAACCTTAAGGCAGTACATCTCTAACTTTGAAAAGAGTAGGAACAAGACCCTTCCCAATTCTGCAGGCCTGTAGTGGATCCAAGTGTCTATTTCTAACTCCCAGATTGTTCTGGTGCTGCTCATCTTCAGATTGCACTTGGAGTAGCAAGACAGGCCATTCAGGAAAATGCTATTAACAGAGATGAATGAATCTCTAGGCCATAACTAGTATAAGAAACGGTTTTCAATGTGGACATGTCCTCATTTTTGTAAGGAAGTATAACAGAAGTCCAAGTTGGTCCCCCTAATGTTGATTCTAGTTGGAGAATGTGGATCCT... |
Task1_train_28855 | A variant was discovered on Chromosome 22, affecting EP300 (E1A binding protein p300). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | ATGAGATTTGAGGTTGAACCTTAAGACTAACAACAGTAAATTTGCACCTCAGTAACTTTTAACTTTTACATTCCTAGGGTTGCCATCTACCAGACTTGGCACCTTTCTAGAGAATCGTGTGAATGACTTTCTGAGGCGACAGAATCACCCTGAGTCAGGAGAGGTCACTGTTAGAGTAGTTCATGCTTCTGACAAAACCGTGGAAGTAAAACCAGGCATGAAAGCAAGGTATCTAGTCATTTCACTTTTCTTCTCCTCGTGGATCCAAAATTGCTCATACATGGTTACTATTGGTGATTCCAGTCTGAATGAGTTATGTT... | ATGAGATTTGAGGTTGAACCTTAAGACTAACAACAGTAAATTTGCACCTCAGTAACTTTTAACTTTTACATTCCTAGGGTTGCCATCTACCAGACTTGGCACCTTTCTAGAGAATCGTGTGAATGACTTTCTGAGGCGACAGAATCACCCTGAGTCAGGAGAGGTCACTGTTAGAGTAGTTCATGCTTCTGACAAAACCGTGGAAGTAAAACCAGGCATGAAAGCAAGGTATCTAGTCATTTCACTTTTCTTCTCCTCGTGGATCCAAAATTGCTCATACATGGTTACTATTGGTGATTCCAGTCTGAATGAGTTATGTT... |
Task1_train_28856 | An alteration has been detected in EP300 (E1A binding protein p300) on Chromosome 22. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | CAGGAATGGTACAAAAAAATGCTTGACAAGGCTGTATCAGAGCGTATTGTCCATGACTACAAGGTCAGTTGGGACATAGGGGCCAGGTGCTGACAATAGATCTGGAAATGCACTAATGTTGCTGCTCTTTGTTCTGTCATTTAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGACACGATTTTGGCTCACTTCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCCTGCCATCACACCCGGCTAA... | CAGGAATGGTACAAAAAAATGCTTGACAAGGCTGTATCAGAGCGTATTGTCCATGACTACAAGGTCAGTTGGGACATAGGGGCCAGGTGCTGACAATAGATCTGGAAATGCACTAATGTTGCTGCTCTTTGTTCTGTCATTTAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACGCAGGCTGGAGTGCAGTGACACGATTTTGGCTCACTTCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCTCCTGCCATCACACCCGGCTAA... |
Task1_train_28857 | Given a variant located on Chromosome 22 and affecting EP300 (E1A binding protein p300), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Colorectal cancer | AGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAACCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACACCTGTAATCCTTGGGATGCTGGGGTGGGAGGATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGCACTTACAGCCTGGGTGACAGAACGAGACTCTGTTTCAAAAAATAAAAAGATTTAACCTTTCTGAAAGTGAATTAGTAAATAGAATTGGAGAAAAGTTAAACTTCCACATATGGACTTACAACCCCCTTCTCAAAACTTTTTGAGTTA... | AGGCGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGGCCAACATGGCGAACCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCTGGCGTGGTGGCACACACCTGTAATCCTTGGGATGCTGGGGTGGGAGGATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGCACTTACAGCCTGGGTGACAGAACGAGACTCTGTTTCAAAAAATAAAAAGATTTAACCTTTCTGAAAGTGAATTAGTAAATAGAATTGGAGAAAAGTTAAACTTCCACATATGGACTTACAACCCCCTTCTCAAAACTTTTTGAGTTA... |
Task1_train_28858 | Located on Chromosome 22, this mutation impacts EP300 (E1A binding protein p300). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GGGAAAAGCCCTTAGAATATATTGTAATAGGTTTGACTTAAATTGTGGACACATTCCATGGCTGTTTAAATTTAGGTTGTAAATCCAAGTATTGGCCTGGTTGTAGGGTGACAGAAGCAGCGAACATTGCTGGCCAGAGACTGTGAGTGTGGCTGCCAGTGTGCACAGATGTTGAATAATCTGTTATCAGTACAGCAGTTTCTCACAAGTTCCTAATTTCTTAAGGGGATGTTTTACATTTTATTACTTTAATAGGTGTTTATAGTTATATACTAATTAATGTCAAATACATATGTAATACCAGCTTTTTATACCTTTTA... | GGGAAAAGCCCTTAGAATATATTGTAATAGGTTTGACTTAAATTGTGGACACATTCCATGGCTGTTTAAATTTAGGTTGTAAATCCAAGTATTGGCCTGGTTGTAGGGTGACAGAAGCAGCGAACATTGCTGGCCAGAGACTGTGAGTGTGGCTGCCAGTGTGCACAGATGTTGAATAATCTGTTATCAGTACAGCAGTTTCTCACAAGTTCCTAATTTCTTAAGGGGATGTTTTACATTTTATTACTTTAATAGGTGTTTATAGTTATATACTAATTAATGTCAAATACATATGTAATACCAGCTTTTTATACCTTTTA... |
Task1_train_28859 | This alteration in EP300 (E1A binding protein p300) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Carcinoma of colon | CCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTG... | CCCTGCGATCTGATGGATGGTCGGGATGCGTTTCTCACGCTGGCAAGGGACAAGCACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCACCATGTGCATGCTGGTGGAGCTGCACACGCAGAGCCAGGACCGCTTTGTCTACACCTGCAATGAATGCAAGCACCATGTGGAGACACGCTGGCACTGTACTGTCTGTGAGGTAGGCACCGGGTTGTGGGAAGGAGGAGGTGAGCTCCGCAGGGTTGTTCTGAGGGGCCATGCAGCCACGTATTTTATAGAGGCCTGTGGGATGCTAGGGGCTTGGCCTCGTGTTTG... |
Task1_train_28860 | With a mutation on Chromosome 22 in gene ACO2 (aconitase 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Infantile cerebellar-retinal degeneration | AATTATACCTCTGTTTAAAGCTGTTTAAAAATGAAAGGCTATAGAAGTGGAAGCTGTTATCTCATCCCAGTGCAAGCCCTGGTATTTAGAGATGGGCTGGCTGAGCTGAGGAGAGCAGTTGCTTATCTTGTTAAATAGTGGTTTCAGTAATAGGTCAGGTTTGGGCTTTTTTGTTTTTTTTTTGTTTGTTTGTTTTTATTAGAGACAGCATGTCACTCTGTTGCTCAAGCTGGAGTGCAGTGATGTGATCAGGGCTCACTGCAGCCTTGATCTCCTGGGCTTAAGTGATCCTCCCGCCTCAGCCTCCTGCGTAGTTGGGA... | AATTATACCTCTGTTTAAAGCTGTTTAAAAATGAAAGGCTATAGAAGTGGAAGCTGTTATCTCATCCCAGTGCAAGCCCTGGTATTTAGAGATGGGCTGGCTGAGCTGAGGAGAGCAGTTGCTTATCTTGTTAAATAGTGGTTTCAGTAATAGGTCAGGTTTGGGCTTTTTTGTTTTTTTTTTGTTTGTTTGTTTTTATTAGAGACAGCATGTCACTCTGTTGCTCAAGCTGGAGTGCAGTGATGTGATCAGGGCTCACTGCAGCCTTGATCTCCTGGGCTTAAGTGATCCTCCCGCCTCAGCCTCCTGCGTAGTTGGGA... |
Task1_train_28861 | This genomic variant is located on Chromosome 22, within the ACO2 (aconitase 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Infantile cerebellar-retinal degeneration | CTCACCCCCATCTGTCCAGCCACACCCACAGACCGGGGAGCTCACTGTCACGGCCAGCGTCATCGTGACATCTTCTGCAGTCCTCATGTCTGCCTGACCTCTCCCCCTGGATGTGGACCACAAGTGTCTACACCGTGTGGACCACAAGTGTCTACACCGTGTAGACCACCCCGAATTCTGTGTGCCCAGCCTTCGTGGATCCAACTTTTACAAGCTTGAGGCTCTTTAGGGATGCACTAGTCTTAAATCCTTGTACGTGGCAGCATTGGCCAGTTCTTCGCAGCCAGGTCTTCCCTCTGCATCCCCAAGAGATGAGACCT... | CTCACCCCCATCTGTCCAGCCACACCCACAGACCGGGGAGCTCACTGTCACGGCCAGCGTCATCGTGACATCTTCTGCAGTCCTCATGTCTGCCTGACCTCTCCCCCTGGATGTGGACCACAAGTGTCTACACCGTGTGGACCACAAGTGTCTACACCGTGTAGACCACCCCGAATTCTGTGTGCCCAGCCTTCGTGGATCCAACTTTTACAAGCTTGAGGCTCTTTAGGGATGCACTAGTCTTAAATCCTTGTACGTGGCAGCATTGGCCAGTTCTTCGCAGCCAGGTCTTCCCTCTGCATCCCCAAGAGATGAGACCT... |
Task1_train_28862 | This genomic variant is located on Chromosome 22, within the ACO2 (aconitase 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Infantile cerebellar-retinal degeneration | GCTCCTCCCTTTCCTTATTGAGTGACTGCTTCTTCAAAACCCAGCTCTTCACTTCCAGGACACCCTCCCCGGCTCTGAACCTTAGCTGGCGCTCCTCCTCTGTGTCTCCGTGTCCCTGACAGCTCCTGCACTAGGGTGTGAGCTCTGTAAGGGCAGAGACAGCAGCCTTGGTTTCTTCATTGGCCTAGTCAGTGCCCAGGGTGGGCCTGGTGTTTGGCAGGTGCTCAGGTGGGTGGTGAGTGAACTCTCAAGAACAGTTTATGTTTCACGTGCTCCATCCCCGTCCCTTGTTGATTTCAGACATTGCCAATCTAGCTGAT... | GCTCCTCCCTTTCCTTATTGAGTGACTGCTTCTTCAAAACCCAGCTCTTCACTTCCAGGACACCCTCCCCGGCTCTGAACCTTAGCTGGCGCTCCTCCTCTGTGTCTCCGTGTCCCTGACAGCTCCTGCACTAGGGTGTGAGCTCTGTAAGGGCAGAGACAGCAGCCTTGGTTTCTTCATTGGCCTAGTCAGTGCCCAGGGTGGGCCTGGTGTTTGGCAGGTGCTCAGGTGGGTGGTGAGTGAACTCTCAAGAACAGTTTATGTTTCACGTGCTCCATCCCCGTCCCTTGTTGATTTCAGACATTGCCAATCTAGCTGAT... |
Task1_train_28863 | This alteration in ACO2 (aconitase 2) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Infantile cerebellar-retinal degeneration | CTATAGTCCTAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGTCCTGGAGGTCAAGGCTACAGTGAGCCGAGATGGTACCACTGCATTCCAGCCTGGGCAACAAAGGCAGACTCAAAACTGCAGACTCAAGCAACAGAGCCTGCCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTACTTTTTCTTGGCAGAAAAGAAAAATATGTTTATTGTAGAGAATATTCACAATCAAGAAGAATTTTTAAAACTCCTAATCTCAACCCCCAGCCAGGAGCAAGCTCTTAGAGCTCTTGGAGAGGTGT... | CTATAGTCCTAGCTACTCAGGAGGCTAAGGTGGGAGGATCACTTGAGTCCTGGAGGTCAAGGCTACAGTGAGCCGAGATGGTACCACTGCATTCCAGCCTGGGCAACAAAGGCAGACTCAAAACTGCAGACTCAAGCAACAGAGCCTGCCTCCAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTACTTTTTCTTGGCAGAAAAGAAAAATATGTTTATTGTAGAGAATATTCACAATCAAGAAGAATTTTTAAAACTCCTAATCTCAACCCCCAGCCAGGAGCAAGCTCTTAGAGCTCTTGGAGAGGTGT... |
Task1_train_28864 | A variant has been detected on Chromosome 22 in ACO2, POLR3H (aconitase 2| RNA polymerase III subunit H). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Infantile cerebellar-retinal degeneration | CTTACCTTCTCTGTGTCCCCGTAATCCTCGGGATTACCTGGGAAAGTGCGTGGGACACATGCAGTTTCCAACCCCAGGTAGGAGTTCCACAAAAGCGAGGCCTTTGCCATTGTTCCCGTGGCCAGAGTGAGCCTTGCCCTTGGCGGTATTCAGCCCTGGCCGTGACTGGCACATGGCCAGGCTCTCTTGACTTGGTTGTTTATCTGCGTGTTCTACAAATATGTCTTGCTAAATGGGTGAAGGAATGGCTCCTTCCATGTTTTTAGTGTCCTGCGCACTGAGCAGGTTTGCATCATACCAGCATTTCTGCGCCAGGGCCC... | CTTACCTTCTCTGTGTCCCCGTAATCCTCGGGATTACCTGGGAAAGTGCGTGGGACACATGCAGTTTCCAACCCCAGGTAGGAGTTCCACAAAAGCGAGGCCTTTGCCATTGTTCCCGTGGCCAGAGTGAGCCTTGCCCTTGGCGGTATTCAGCCCTGGCCGTGACTGGCACATGGCCAGGCTCTCTTGACTTGGTTGTTTATCTGCGTGTTCTACAAATATGTCTTGCTAAATGGGTGAAGGAATGGCTCCTTCCATGTTTTTAGTGTCCTGCGCACTGAGCAGGTTTGCATCATACCAGCATTTCTGCGCCAGGGCCC... |
Task1_train_28865 | A genetic alteration is present in ACO2, POLR3H (aconitase 2| RNA polymerase III subunit H) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TTTGACAAGTGGGATGGCAAGGACCTGGAGGACCTGCAGATCCTCATCAAGGTCAGCAGCATGGGGACGGCAGGACAGCCCCACCCTGCCAGGGCCCCCCGTCCCCTGAGCATCGGGAAGGGCCATGAACCTGGAGGAAGTGAGCACAGTCAAGACGCAGGTGGGAGATGGAAGGGAGGTTTGGCTGCAGAGCAGAGAGGGTATCGCAACGCAGTCCAGCGTCCCCCTTCTCTGTGGCCCCGAACTGGGCAGAGCTAGATCTGGCCAGCCTCCGTCTGGGGCCCTCAGCCATCCAGCAGCAGCTGATCAGAGCCACCTCC... | TTTGACAAGTGGGATGGCAAGGACCTGGAGGACCTGCAGATCCTCATCAAGGTCAGCAGCATGGGGACGGCAGGACAGCCCCACCCTGCCAGGGCCCCCCGTCCCCTGAGCATCGGGAAGGGCCATGAACCTGGAGGAAGTGAGCACAGTCAAGACGCAGGTGGGAGATGGAAGGGAGGTTTGGCTGCAGAGCAGAGAGGGTATCGCAACGCAGTCCAGCGTCCCCCTTCTCTGTGGCCCCGAACTGGGCAGAGCTAGATCTGGCCAGCCTCCGTCTGGGGCCCTCAGCCATCCAGCAGCAGCTGATCAGAGCCACCTCC... |
Task1_train_28866 | A mutation on Chromosome 22 affecting ACO2, POLR3H (aconitase 2| RNA polymerase III subunit H) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Infantile cerebellar-retinal degeneration | CCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTGCCTCTGGAGGGCTTGTCATCCACCCCTCCAGGGCCATGCCCTGACCTCTGTCCTCTCTACTTACCACCCAAGGTCAAAGGGAAGTGTACCACTGACCACATCTC... | CCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTGCCTCTGGAGGGCTTGTCATCCACCCCTCCAGGGCCATGCCCTGACCTCTGTCCTCTCTACTTACCACCCAAGGTCAAAGGGAAGTGTACCACTGACCACATCTC... |
Task1_train_28867 | Assess the clinical impact of this variant on gene CCDC134 (coiled-coil domain containing 134), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Severe progressive deforming recessive osteogenesis imperfecta (type III) | CAAGACCAGCCTGGCCAACATGGCAAAACCCCGTTGCTACTAAAAATACAAAAATTAGCTGTGTGTGGTGGCAGGCAACTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGGAGAATCGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCTCTCCAGACTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAACAAAACAAAACAAAAACTAGTGCCTTCAACTGGGGAATACCTGGCTCTTAGTTAAAAGCATGAGAAATTTCCTGGTTAAATGGAACAATTCAGACACATCAAGAAAAGC... | CAAGACCAGCCTGGCCAACATGGCAAAACCCCGTTGCTACTAAAAATACAAAAATTAGCTGTGTGTGGTGGCAGGCAACTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGGAGAATCGCTTGAACCCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCTCTCCAGACTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAACAAAACAAAACAAAAACTAGTGCCTTCAACTGGGGAATACCTGGCTCTTAGTTAAAAGCATGAGAAATTTCCTGGTTAAATGGAACAATTCAGACACATCAAGAAAAGC... |
Task1_train_28868 | A change on Chromosome 22 affects gene NAGA (alpha-N-acetylgalactosaminidase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Alpha-N-acetylgalactosaminidase deficiency | TGTGCATATGTAAGTTTTTACACCATACCCTAAATACAAGGACCTCAGAACCCTGAGGAGTATGGGAGATCCACCCAGAAAATACTCCTTGGGCAGCACAGTGCAAGGCCTGGGGCACTGGGTGCTCCTGCATTCAAAGCCCAAGGAGGACCTAGCTAGGTTGCTCTGCCACTAGCTCTCTCCAAAGGGGAGAGCCACCAGGGAAGACAAGTGCCCTGTAGCCTTGGCTAAAAGAGGAGGGCTTGGGAAATACGGACCAAAGCAAGACAGGCAAGAACCCATCATTCCTTCACTTTGACTGTTACCCCTGTCCTTAGGAA... | TGTGCATATGTAAGTTTTTACACCATACCCTAAATACAAGGACCTCAGAACCCTGAGGAGTATGGGAGATCCACCCAGAAAATACTCCTTGGGCAGCACAGTGCAAGGCCTGGGGCACTGGGTGCTCCTGCATTCAAAGCCCAAGGAGGACCTAGCTAGGTTGCTCTGCCACTAGCTCTCTCCAAAGGGGAGAGCCACCAGGGAAGACAAGTGCCCTGTAGCCTTGGCTAAAAGAGGAGGGCTTGGGAAATACGGACCAAAGCAAGACAGGCAAGAACCCATCATTCCTTCACTTTGACTGTTACCCCTGTCCTTAGGAA... |
Task1_train_28869 | Located on Chromosome 22, this mutation impacts NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 33 | TGGCCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCACGGCGGGTGGATTACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTTTTCTAAAAATATAAAACTAGCTGGATGTGGTGGTCCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGGAGAATTACTTGAACCAGGAGGTGGAAGGTGCAGTGAGCCAAGATCACACCAGTGCACTCCAGCCTGGGCAACAACAGCGAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAGACCAGCCTGGGCAATGGAGAGAC... | TGGCCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCACGGCGGGTGGATTACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTTTTCTAAAAATATAAAACTAGCTGGATGTGGTGGTCCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGGAGAATTACTTGAACCAGGAGGTGGAAGGTGCAGTGAGCCAAGATCACACCAGTGCACTCCAGCCTGGGCAACAACAGCGAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAGACCAGCCTGGGCAATGGAGAGAC... |
Task1_train_28870 | A variant has been detected on Chromosome 22 in NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Mitochondrial disease | TGGCCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCACGGCGGGTGGATTACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTTTTCTAAAAATATAAAACTAGCTGGATGTGGTGGTCCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGGAGAATTACTTGAACCAGGAGGTGGAAGGTGCAGTGAGCCAAGATCACACCAGTGCACTCCAGCCTGGGCAACAACAGCGAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAGACCAGCCTGGGCAATGGAGAGAC... | TGGCCTGGGCGCGGTGGCTCACGCCAGCACTTTGGGAGGCCACGGCGGGTGGATTACTTGAGGTCAAGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACTCCGTCTTTTCTAAAAATATAAAACTAGCTGGATGTGGTGGTCCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGGAGAATTACTTGAACCAGGAGGTGGAAGGTGCAGTGAGCCAAGATCACACCAGTGCACTCCAGCCTGGGCAACAACAGCGAGACTCCATCTCAAAAAAAAGAAAAGAAAAAAAGACCAGCCTGGGCAATGGAGAGAC... |
Task1_train_28871 | This variant affects gene NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6) located on Chromosome 22. Evaluate its biological effect and specify any disease association. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 33 | CTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCC... | CTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCC... |
Task1_train_28872 | Gene NDUFA6 (NADH:ubiquinone oxidoreductase subunit A6) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mitochondrial disease | CTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCC... | CTGGGAGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGTGAGTTATCATTACTGTTTTTTTCATTAAATACTTAAAATTTTACTTTTGTTTTTTATTAATGCTCAGGCTGTTCTAAGTTCTCAACACTATTACTTATTCCCCTTCCTTGATTTGATTCCTCAGCTGGAGTCCTGATGATGGATACCATAAAACCCGTGTGGCACAGGTTTGAGTAACTGGCCAGCTACAGATCACTGATCTTCCCCATAGGGATGCATACTCCTTGACCCCTTCTTTTCTCTCCTCTTCCCTTGCTTTCTAGGCTCC... |
Task1_train_28873 | This mutation is located in gene TCF20 (transcription factor 20) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Neurodevelopmental abnormality | TTGGATGGCACTTCTTTAACAAAATGTTTCCCTTCTTTCAACAGTTAACACACTGCAAAACATCCCCCTATCATCTCAGCAAAGAAAATACAACACTCTATTGTATGTATACAACGTACTGTGATTTAGAGTAAGAAATACATATTTTAGTCTTCATCCCTGATTCCTGGCACAGACCTCCTAAAACCCGTGTAAATTCCTGAGCAATTAGGGGTGCTAGGAGCATCTTTTCTTCTAATATTTGGTTTTTGATCCTGGTTCCTGACATGGAGCTCCTAAACCCTTGGAATTTCCTGGATAGGAGCACTTTTTGTTCTAAG... | TTGGATGGCACTTCTTTAACAAAATGTTTCCCTTCTTTCAACAGTTAACACACTGCAAAACATCCCCCTATCATCTCAGCAAAGAAAATACAACACTCTATTGTATGTATACAACGTACTGTGATTTAGAGTAAGAAATACATATTTTAGTCTTCATCCCTGATTCCTGGCACAGACCTCCTAAAACCCGTGTAAATTCCTGAGCAATTAGGGGTGCTAGGAGCATCTTTTCTTCTAATATTTGGTTTTTGATCCTGGTTCCTGACATGGAGCTCCTAAACCCTTGGAATTTCCTGGATAGGAGCACTTTTTGTTCTAAG... |
Task1_train_28874 | Gene RRP7A (ribosomal RNA processing 7 homolog A), found on Chromosome 22, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Microcephaly 28, primary, autosomal recessive | AGACCCGAGGGGTGGCCTGGTCCTTCCCTCCTGGCCTGTGTGGACTCTGATGGGGCTGTTGGACGCGGTGGCCTTCAACCTGGGGCCCGTTGGCCAGAGCTCGGCCTCTCAGAGACCGCTGCAGGCCCTGCCTCGCCTCCTCCTGGCCCTGCACCTCCAGCCATTCACTGCGGCTCTCACAGCTCAGTACGGTCGGAATTTGCGCTGGGCCCGCAGCAGCTCGATCCTCTGCTTGTCCTCCTCGAACTTCTTGCGCAGCTGCGCTAGATCTGGGGGTGAGAGGAGGCGCGGGGCAGGGTCAGACAGCGCGCCCCGGGGAA... | AGACCCGAGGGGTGGCCTGGTCCTTCCCTCCTGGCCTGTGTGGACTCTGATGGGGCTGTTGGACGCGGTGGCCTTCAACCTGGGGCCCGTTGGCCAGAGCTCGGCCTCTCAGAGACCGCTGCAGGCCCTGCCTCGCCTCCTCCTGGCCCTGCACCTCCAGCCATTCACTGCGGCTCTCACAGCTCAGTACGGTCGGAATTTGCGCTGGGCCCGCAGCAGCTCGATCCTCTGCTTGTCCTCCTCGAACTTCTTGCGCAGCTGCGCTAGATCTGGGGGTGAGAGGAGGCGCGGGGCAGGGTCAGACAGCGCGCCCCGGGGAA... |
Task1_train_28875 | Given a variant located on Chromosome 22 and affecting CYB5R3 (cytochrome b5 reductase 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Deficiency of cytochrome-b5 reductase | GCAAGTCTCCGGAGCACCAGCCTAGCCCCGCCTCCCTCTCCAGCCTCATCGTTGCTGCCCCTTCCAGCCACCTATCTTCTTCGATCTGTTTCTGAAAGTTTATTCCACAAGCTGGTTCCAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCC... | GCAAGTCTCCGGAGCACCAGCCTAGCCCCGCCTCCCTCTCCAGCCTCATCGTTGCTGCCCCTTCCAGCCACCTATCTTCTTCGATCTGTTTCTGAAAGTTTATTCCACAAGCTGGTTCCAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCC... |
Task1_train_28876 | A sequence alteration has been identified in CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22. Is it disease-inducing or harmless? | Pathogenic; Hereditary methemoglobinemia | CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTG... | CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTG... |
Task1_train_28877 | Here is a mutation in CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Deficiency of cytochrome-b5 reductase | CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTG... | CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTG... |
Task1_train_28878 | This sequence change occurs on Chromosome 22, altering CYB5R3 (cytochrome b5 reductase 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Central core myopathy | CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTG... | CAACGGCAGGGCCTTTGCGTCTGCTGTTTCCACCATTTGAACACCCACCCACCCCAGCATGGCCAGCTCTCTCTTCCCGTCCCAGCCCAAATCCATCTCCTTGGGGCCTTCCTGCTGCCCCGTTTTAAGAACAGCCCCACACCCACCTTGCCTCATCACCTCTGTAATTTACCACCATGCAGATGGCATCCTCTGACTTTCCTGAGCCTCGAGGCTCATCTGACCCTGACAGGAGGCAGCAGCCTCGCGGTGCATTGGGGTGACTGGGGTTGCGTGGTTTCAGCTGGTTTGCCTCTGGGGGTTGGGAATTTTTCTTCCTG... |
Task1_train_28879 | The gene CYB5R3 (cytochrome b5 reductase 3), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary methemoglobinemia | GGGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCAC... | GGGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCAC... |
Task1_train_28880 | Here is a genetic alteration in CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; METHEMOGLOBINEMIA, TYPE I | GGGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCAC... | GGGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCAC... |
Task1_train_28881 | A mutation in CYB5R3 (cytochrome b5 reductase 3), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; METHEMOGLOBINEMIA, TYPE II | GGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCACC... | GGTGGATCACTTGAGCTCATGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAGAATTAGCTGGATGTGGTGGCGGGCACCTGTAATCGCAGCTACTCAGGTAGCTGAGGCAGGACAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTCACGCCATTGCACTCCAGCCTGGGCAATAAGAGTGAAATTCCGTCTCAATTTTTTTAAAAAAAGTTATGTCTTCCTCTCTGAGCTAAAGTGTGTCTCATGCTTTAATCCTCACCACCATCCTTTGAGGTGGCCACC... |
Task1_train_28882 | Gene CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; METHEMOGLOBINEMIA, TYPE I | CAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACATCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCT... | CAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGGCACACATCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCT... |
Task1_train_28883 | A genetic alteration is present in CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; METHEMOGLOBINEMIA, TYPE II | CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACC... | CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAGGATTGTGCCATTGCACTCCAGCCTGAGGGACAAGAGCGAGACTTTGTATCAAAATAAATAAATAAATAAAACCCTGGTTTGCATCCTGGTTTCAGCACTTCCCACGAGACATGCACAGTCAAGCCCCTCCCGGAGCCTGTGTTCGGAGGTATGAGATGAGGCGACCACACTGCCCTCGCTACCAGCTGCAAAGATGGCCTGTACAGGTGACAGACGGTCTGACGGCCTCCACAGACTCTGAACC... |
Task1_train_28884 | Consider a variant on Chromosome 22 in gene CYB5R3 (cytochrome b5 reductase 3). Determine its clinical classification and disease relevance. | Pathogenic; METHEMOGLOBINEMIA, TYPE I | AAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCT... | AAGGTGGCTGGGGGAGGGACAGCGTGTACACAGTGCCTCAGGGAGGGGAGCCTGTTGTGGCTTCAGCACAGAGGGTGGCTATGGGGTGTGGAGGCAGAGGGGAGTGGAGGGCCACGGACAGGCAGGCAGAGCACACTGTCCTGGGCCCTGGGTGCCAGGCCAGGACTCTAACCTTTATCAAGGACCAAGGGAGCCAGCCAGGTCTCCAAGCCAGGAGAGGCCTGGTCACCTGTGAGTTTTTCATCCTCAATTTGAATCCTCCTAATAGCTTCTCCACATTTGGCCAGAGAGACTTCAACGTGAACAGATGCTTGAGCCCT... |
Task1_train_28885 | This variant impacts the gene CYB5R3 (cytochrome b5 reductase 3) on Chromosome 22. Is the change likely to result in a pathogenic outcome? | Pathogenic; METHEMOGLOBINEMIA, TYPE I | TTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACG... | TTTCTTCCTTCTTCACCTGGTCAGTGCCTACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACG... |
Task1_train_28886 | Here’s a variant in CYB5R3 (cytochrome b5 reductase 3) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; METHEMOGLOBINEMIA, TYPE I | TACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCT... | TACTCAGCCCCAGATCTCACCTTCACTGTCACCTGCTAGGGAGCCACTCTCACCAGCCAACCCCACCCATCCCTGGTGGCCCTTCTGGAAGCTCGGTCGCAGGTACCTGTCCCCTGCAGGGAGCACTGGCTTCCCCATGACTATGTGTCCAGTGTCCGTCCTCCAGCCAAAGACGGGCTCCTGAGGCCAGGCCTGGGCGCCCCAGCAAGGAAGGAGCCCGGGCCAGGGCCCTTCCCACCCTTCAGATCCAGTGCCTGCCCCCAGACCTGGCAAGGTAAGGGCCTCAGCTACGGCCCAGTAAGGGGGCTCCAGGGGTACCT... |
Task1_train_28887 | The gene CYB5R3 (cytochrome b5 reductase 3) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; METHEMOGLOBINEMIA, TYPE I | CCAGGTTCACGCCATTCTCCTGCTTCAGCCTCTGGAGTAGCTGGGATTACAGGCATCTGCCACCACGCCCGGCTAATTTTCATATTGATTGATTGATTGATTGATTGAGACAGCGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGACACGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCTTCAGCCTCTGGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATC... | CCAGGTTCACGCCATTCTCCTGCTTCAGCCTCTGGAGTAGCTGGGATTACAGGCATCTGCCACCACGCCCGGCTAATTTTCATATTGATTGATTGATTGATTGATTGAGACAGCGTCTTGCTCTGTAGCCCAGGCTGGAGTGCAGTGACACGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCTTCAGCCTCTGGAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATC... |
Task1_train_28888 | This mutation occurs in A4GALT (alpha 1,4-galactosyltransferase (P1PK blood group)) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; NOR polyagglutination syndrome | CCAGGTGCAGTGGCTTACCTGAGGTCAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGAGATGGGGCCACTGTACTACAGCTTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAGAAAGAAAGAAACCCAAGAAAACGACACATAACCTGCTCTTGAATACTCCTAAGAGCCAGGGAGCTCACCTCCTTCCCACGCTGCTCAAGACGGTCTGTGGGCAGAAAACGGAGGCCAATGAATGCCTCCCCCTTCAGCTGCCAAAAAGCAGCCTGCTGGGCCCCAGTGTTCCTGGCAGCACCCCCAGTCCTGGTG... | CCAGGTGCAGTGGCTTACCTGAGGTCAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGAGATGGGGCCACTGTACTACAGCTTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAGAAAGAAAGAAACCCAAGAAAACGACACATAACCTGCTCTTGAATACTCCTAAGAGCCAGGGAGCTCACCTCCTTCCCACGCTGCTCAAGACGGTCTGTGGGCAGAAAACGGAGGCCAATGAATGCCTCCCCCTTCAGCTGCCAAAAAGCAGCCTGCTGGGCCCCAGTGTTCCTGGCAGCACCCCCAGTCCTGGTG... |
Task1_train_28889 | A mutation in WNT7B (Wnt family member 7B), located on Chromosome 22, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Matthew-Wood syndrome | AGAGTTTCTTCCCCGGGGGTGTGGGAAAGGCTCTGCTCAGAACCTAAGCAGCTGCAGAGGCTCGAGGATGGTGGTGGTTCCCACGAGGGCTCAGCCTTGCCTTCTCCTCTTTCTCCTCCTCCTCCAGGGAGTCCTCCCAGATGCCTCCAGGTAGGTGAACCACACTTTCCTCTGGACTCTCAAGGTTCGTAGGCCTCCTTTATGGCATGGACTGTGATCTGCCTGTACCTGGAGACTAGTGCTCACATGCTGTCTGTGAGTTCCTTGGAGGCAAAGCCTGTGTCACTCATTCCTTTATCCATCCATCTATTCACCCATCC... | AGAGTTTCTTCCCCGGGGGTGTGGGAAAGGCTCTGCTCAGAACCTAAGCAGCTGCAGAGGCTCGAGGATGGTGGTGGTTCCCACGAGGGCTCAGCCTTGCCTTCTCCTCTTTCTCCTCCTCCTCCAGGGAGTCCTCCCAGATGCCTCCAGGTAGGTGAACCACACTTTCCTCTGGACTCTCAAGGTTCGTAGGCCTCCTTTATGGCATGGACTGTGATCTGCCTGTACCTGGAGACTAGTGCTCACATGCTGTCTGTGAGTTCCTTGGAGGCAAAGCCTGTGTCACTCATTCCTTTATCCATCCATCTATTCACCCATCC... |
Task1_train_28890 | The following genetic variant occurs in TRMU (tRNA mitochondrial 2-thiouridylase) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | GGTTCATACCACAAGGGAGGGTTCTCATGCACATGTGCCTAATAATAACAACTATCACAAAAGACTGCAAAAACCACAACTTTACACAAAGGCTATCGTAACCTTCCTCAAAAAAAAAAAAAAAACAAAAAACTTCTGTTGCAAGGACATCTGCCCAGCAACTGCTTGTCCAACCCTGGAGTGCTGTCACCCTTGTTATTGATCTTTGTAGCCAAAGAATTATCTCAAAACAATGATGTGATCCTCATTTTCCCTTTAAAAACCTTTGTCTTCCTAGGCCGGGCACTGTGGCTCACGCGTGTAATCCCAGCACTTTGGGA... | GGTTCATACCACAAGGGAGGGTTCTCATGCACATGTGCCTAATAATAACAACTATCACAAAAGACTGCAAAAACCACAACTTTACACAAAGGCTATCGTAACCTTCCTCAAAAAAAAAAAAAAAACAAAAAACTTCTGTTGCAAGGACATCTGCCCAGCAACTGCTTGTCCAACCCTGGAGTGCTGTCACCCTTGTTATTGATCTTTGTAGCCAAAGAATTATCTCAAAACAATGATGTGATCCTCATTTTCCCTTTAAAAACCTTTGTCTTCCTAGGCCGGGCACTGTGGCTCACGCGTGTAATCCCAGCACTTTGGGA... |
Task1_train_28891 | A genomic change on Chromosome 22 affects TRMU (tRNA mitochondrial 2-thiouridylase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GGTTCATACCACAAGGGAGGGTTCTCATGCACATGTGCCTAATAATAACAACTATCACAAAAGACTGCAAAAACCACAACTTTACACAAAGGCTATCGTAACCTTCCTCAAAAAAAAAAAAAAAACAAAAAACTTCTGTTGCAAGGACATCTGCCCAGCAACTGCTTGTCCAACCCTGGAGTGCTGTCACCCTTGTTATTGATCTTTGTAGCCAAAGAATTATCTCAAAACAATGATGTGATCCTCATTTTCCCTTTAAAAACCTTTGTCTTCCTAGGCCGGGCACTGTGGCTCACGCGTGTAATCCCAGCACTTTGGGA... | GGTTCATACCACAAGGGAGGGTTCTCATGCACATGTGCCTAATAATAACAACTATCACAAAAGACTGCAAAAACCACAACTTTACACAAAGGCTATCGTAACCTTCCTCAAAAAAAAAAAAAAAACAAAAAACTTCTGTTGCAAGGACATCTGCCCAGCAACTGCTTGTCCAACCCTGGAGTGCTGTCACCCTTGTTATTGATCTTTGTAGCCAAAGAATTATCTCAAAACAATGATGTGATCCTCATTTTCCCTTTAAAAACCTTTGTCTTCCTAGGCCGGGCACTGTGGCTCACGCGTGTAATCCCAGCACTTTGGGA... |
Task1_train_28892 | Consider a variant on Chromosome 22 in gene TRMU (tRNA mitochondrial 2-thiouridylase). Determine its clinical classification and disease relevance. | Pathogenic; Aminoglycoside-induced deafness | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACAC... | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACAC... |
Task1_train_28893 | Here is a variant affecting TRMU (tRNA mitochondrial 2-thiouridylase) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACAC... | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACAC... |
Task1_train_28894 | Consider this mutation in TRMU (tRNA mitochondrial 2-thiouridylase) on Chromosome 22. Is this a benign change or a disease-causing variant? | Pathogenic; Aminoglycoside-induced deafness | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACAC... | GAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACAC... |
Task1_train_28895 | Assess the clinical impact of this variant on gene TRMU (tRNA mitochondrial 2-thiouridylase), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCC... | TGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCC... |
Task1_train_28896 | A variant was discovered on Chromosome 22, affecting TRMU (tRNA mitochondrial 2-thiouridylase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | GCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGC... | GCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGC... |
Task1_train_28897 | A mutation found in ALG12 (ALG12 alpha-1,6-mannosyltransferase) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; ALG12-congenital disorder of glycosylation | GTTGTGCTGAGAGATGCAGCCTGGACCACGGCTCGTGTGCACAGACACCACTCAGGCCTCAGGCCCCTCCTAAAAGACAGAGCCCAGGCCACAGCTCGGGTGCACACATACCACTTGGGCGTCGGGCCCCCTCCAGGCAGGACCAAGGCAGCAAGGGCCACAGGACGTTCGGTCTCTGTACCCTTTTCTTCACTGTTAAAAACAGATGGTCGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGGGTAGATCACGAGGTAAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCT... | GTTGTGCTGAGAGATGCAGCCTGGACCACGGCTCGTGTGCACAGACACCACTCAGGCCTCAGGCCCCTCCTAAAAGACAGAGCCCAGGCCACAGCTCGGGTGCACACATACCACTTGGGCGTCGGGCCCCCTCCAGGCAGGACCAAGGCAGCAAGGGCCACAGGACGTTCGGTCTCTGTACCCTTTTCTTCACTGTTAAAAACAGATGGTCGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGGGTAGATCACGAGGTAAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCT... |
Task1_train_28898 | A mutation found in ALG12 (ALG12 alpha-1,6-mannosyltransferase) on Chromosome 22 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; ALG12-congenital disorder of glycosylation | GGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAACCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACCAAAAAACAAAAAACAGACGGTCACGGGTGACACACATGTTGGGATTCGTTATGCTGTTCCATCTATGCGTGTATGTTTGACATAATTCCTAAGAAAGCACTTTTTAAATGCAGATTGTCCGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAAGAGTTCA... | GGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAACCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACCAAAAAACAAAAAACAGACGGTCACGGGTGACACACATGTTGGGATTCGTTATGCTGTTCCATCTATGCGTGTATGTTTGACATAATTCCTAAGAAAGCACTTTTTAAATGCAGATTGTCCGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAAGAGTTCA... |
Task1_train_28899 | This mutation occurs in MLC1 (modulator of VRAC current 1) on Chromosome 22. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts | GTCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTA... | GTCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTA... |
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