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_17600 | This mutation occurs in TUBA1A (tubulin alpha 1a) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | TTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTT... | TTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTT... |
Task1_train_17601 | Gene TUBA1A (tubulin alpha 1a) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Congenital bilateral perisylvian syndrome | TTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTT... | TTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTT... |
Task1_train_17602 | Here is a genetic alteration in TUBA1A (tubulin alpha 1a) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Congenital fibrosis of extraocular muscles | TTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTT... | TTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTT... |
Task1_train_17603 | This variant affects the gene TUBA1A (tubulin alpha 1a) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Lissencephaly due to TUBA1A mutation | TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTG... | TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTG... |
Task1_train_17604 | A variant affecting Chromosome 12, within the gene TUBA1A (tubulin alpha 1a), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Tubulinopathy | TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTG... | TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTG... |
Task1_train_17605 | Gene TUBA1A (tubulin alpha 1a) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Tubulinopathy | TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTG... | TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTG... |
Task1_train_17606 | This variant impacts the gene TUBA1A (tubulin alpha 1a) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Tubulinopathy-associated dysgyria | TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTG... | TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTG... |
Task1_train_17607 | Gene TUBA1A (tubulin alpha 1a) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Lissencephaly due to TUBA1A mutation | TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTG... | TCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTG... |
Task1_train_17608 | The gene TUBA1A (tubulin alpha 1a), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Tubulinopathy | CAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCG... | CAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCG... |
Task1_train_17609 | Gene TUBA1A (tubulin alpha 1a), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Lissencephaly due to TUBA1A mutation | CAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCG... | CAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCG... |
Task1_train_17610 | Consider a variant on Chromosome 12 in gene TUBA1A (tubulin alpha 1a). Determine its clinical classification and disease relevance. | Pathogenic; Tubulinopathy | CTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCT... | CTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCT... |
Task1_train_17611 | Here is a mutation in TUBA1A (tubulin alpha 1a) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTT... | GTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTT... |
Task1_train_17612 | Here is a mutation in TUBA1A (tubulin alpha 1a) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Tubulinopathy | AGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACT... | AGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACT... |
Task1_train_17613 | A mutation on Chromosome 12 affecting TUBA1A (tubulin alpha 1a) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Lissencephaly due to TUBA1A mutation | GATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTC... | GATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTC... |
Task1_train_17614 | Given this variant in gene TUBA1A (tubulin alpha 1a) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Tubulinopathy | GATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTC... | GATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTC... |
Task1_train_17615 | This is a variant in TUBA1A (tubulin alpha 1a), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Tubulinopathy | TCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTG... | TCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTG... |
Task1_train_17616 | This sequence change occurs on Chromosome 12, altering TUBA1A (tubulin alpha 1a). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Tubulinopathy | CTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCAC... | CTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCAC... |
Task1_train_17617 | This is a variant in TUBA1A (tubulin alpha 1a), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Tubulinopathy | CAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGG... | CAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGG... |
Task1_train_17618 | The variant affects gene TUBA1A (tubulin alpha 1a), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Tubulinopathy | CCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCAT... | CCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCAT... |
Task1_train_17619 | The gene TUBA1A (tubulin alpha 1a) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Lissencephaly due to TUBA1A mutation | CCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCAT... | CCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCAT... |
Task1_train_17620 | A variant was discovered in gene TUBA1A (tubulin alpha 1a), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Tubulinopathy | GCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACT... | GCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACT... |
Task1_train_17621 | Given a variant located on Chromosome 12 and affecting TUBA1A (tubulin alpha 1a), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; TUBA1A-related disorder | GTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATG... | GTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATG... |
Task1_train_17622 | This gene mutation involves TUBA1A (tubulin alpha 1a) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Lissencephaly due to TUBA1A mutation | GTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATG... | GTATTTCTTTTTTTGAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATG... |
Task1_train_17623 | Here is a genetic alteration in TUBA1A (tubulin alpha 1a) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Tubulinopathy | GAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAG... | GAGATGGAGTTTTGCTCAAGCTGGACTGCAATGGTGCGATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGTAATTCTCTCTGAGTAGCTGGGATTACAGGCGTGTGTCACCACGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAG... |
Task1_train_17624 | Mutation context: Chromosome 12, Gene TUBA1A (tubulin alpha 1a). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Tubulinopathy | CGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTG... | CGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTG... |
Task1_train_17625 | This variant impacts the gene TUBA1A (tubulin alpha 1a) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | CGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTG... | CGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTG... |
Task1_train_17626 | This variant affects gene TUBA1A (tubulin alpha 1a) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Lissencephaly due to TUBA1A mutation | CGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTG... | CGCCTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTG... |
Task1_train_17627 | A variant has been detected on Chromosome 12 in TUBA1A (tubulin alpha 1a). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Tubulinopathy | CTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTG... | CTGGCTAATTTTTGCATTTTTAGTAGAGACAGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTG... |
Task1_train_17628 | Consider this mutation in TUBA1A (tubulin alpha 1a) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Lissencephaly due to TUBA1A mutation | CCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATC... | CCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATC... |
Task1_train_17629 | A variant on Chromosome 12 in gene TUBA1A (tubulin alpha 1a) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Tubulinopathy | CCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATC... | CCGCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATC... |
Task1_train_17630 | A variant was discovered on Chromosome 12, affecting TUBA1A (tubulin alpha 1a). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Lissencephaly due to TUBA1A mutation | GCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTA... | GCCCCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTA... |
Task1_train_17631 | An alteration has been detected in TUBA1A (tubulin alpha 1a) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCT... | TGAGCCACTGTGCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCT... |
Task1_train_17632 | Located on Chromosome 12, this mutation impacts TUBA1A (tubulin alpha 1a). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; West syndrome | GCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATG... | GCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATG... |
Task1_train_17633 | A variant on Chromosome 12 in gene TUBA1A (tubulin alpha 1a) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Tubulinopathy-associated dysgyria | GCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATG... | GCCCCGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATG... |
Task1_train_17634 | A variant was discovered in gene TUBA1A (tubulin alpha 1a), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Tubulinopathy | CGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACAT... | CGCCCAGTCTCAGGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACAT... |
Task1_train_17635 | A genomic change on Chromosome 12 affects TUBA1A (tubulin alpha 1a). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAAT... | GGTATTTCTTCATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAAT... |
Task1_train_17636 | This alteration in TUBA1A (tubulin alpha 1a) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Tubulinopathy | ATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAA... | ATAGCAGCGTGAAAATGAACTAATATGTATCCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAA... |
Task1_train_17637 | This gene mutation involves TUBA1A (tubulin alpha 1a) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Tubulinopathy | CCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGC... | CCCAGAACCAGAAAATGTGAGAGTAGGAAGACAATTTACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGC... |
Task1_train_17638 | This mutation occurs in TUBA1A (tubulin alpha 1a) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Tubulinopathy | ACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTG... | ACTGAACTTGGGAATAGACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTG... |
Task1_train_17639 | The gene TUBA1A (tubulin alpha 1a) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Lissencephaly due to TUBA1A mutation | ACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAAT... | ACACTTTTGGTCAGTTGGTCTGGAGCAGAGCTCTATTGTTGGACAAATCGTAAGTCCAAAACATTTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAAT... |
Task1_train_17640 | Consider this mutation in TUBA1A (tubulin alpha 1a) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Tubulinopathy | TTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACC... | TTTTTGTATTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACC... |
Task1_train_17641 | A mutation in TUBA1A (tubulin alpha 1a), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Tubulinopathy | TTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATG... | TTGGTGCTAATGCATGCAATTGCACTATTAGGGCTTTATTATTTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATG... |
Task1_train_17642 | Given a variant located on Chromosome 12 and affecting TUBA1A (tubulin alpha 1a), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lissencephaly due to TUBA1A mutation | TTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATG... | TTGAAGTTATTGGCCCACATTAACTTGGAGAATTAACTTTCAGATATCTAATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATG... |
Task1_train_17643 | A mutation in TUBA1A (tubulin alpha 1a), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Tubulinopathy | ATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTAT... | ATTAACACATTAGAGTGAATAAATGTATCAGGCTTTTCCAACATGACATTCAGCTTAAAATAGGTTTGGAAAGAAGGTAAAGAACTAAGTCTAGCATAGGGCTGCTTGCTTTGAGAGGAGATTTGTTTTGGGAACCCTGGGCAGAAGAGGCATAATGGCACTAGACACATACCAAGGAGCGGAGGGCACATGAAAAACTGATGCATTTGGAATATTCACCATTTTATGTTAGTTACATAAGATTCAGCAGCCAACCAGATTTTGGCTATGTGTTACCAACTTTCAACTCTAAAAAGTACTGGCAGTTTAAATAACTTTAT... |
Task1_train_17644 | Given this context: Chromosome 12, gene TUBA1A (tubulin alpha 1a) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; TUBA1A-associated tubulinopathy | ATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATG... | ATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATG... |
Task1_train_17645 | This variant lies on Chromosome 12 and affects the gene TUBA1A (tubulin alpha 1a). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Tubulinopathy | ATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATG... | ATGAGCCGGGCACAGTGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATG... |
Task1_train_17646 | Chromosome 12 houses a mutation in gene TUBA1A (tubulin alpha 1a). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Tubulinopathy | TGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAAT... | TGGTTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAAT... |
Task1_train_17647 | A mutation on Chromosome 12 affecting TUBA1A (tubulin alpha 1a) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Tubulinopathy | CCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTT... | CCCAGCACTTAGGGAGGCCGAGGCAAGCGGATCACTGGAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTT... |
Task1_train_17648 | The gene TUBA1A (tubulin alpha 1a), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Tubulinopathy | GAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATAC... | GAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATAC... |
Task1_train_17649 | This alteration in TUBA1A (tubulin alpha 1a) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn genetic diseases | GAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATAC... | GAGGTCAGGAGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATAC... |
Task1_train_17650 | Gene TUBA1A (tubulin alpha 1a) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Tubulinopathy | AGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATAC... | AGTCTGAGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATAC... |
Task1_train_17651 | This variant lies on Chromosome 12 and affects the gene TUBA1A (tubulin alpha 1a). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGT... | AGACCAGCCTGACCATCATGGTGAAACCCAGTCTCCACTAAAAATACAAAAATTAGTCAGGTGTGGTGGTGGATGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGCAGGAGAAGCTCTTGAACCCAGGAGGTTGAGGTTGCAGTGAGCCCAGATCGTACCACTGCACTCCAGCCTGGGCAACAGAACAAGACTCCATCTCACAAAAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGT... |
Task1_train_17652 | Assess the clinical impact of this variant on gene TUBA1A (tubulin alpha 1a), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Tubulinopathy | AAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAA... | AAAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAA... |
Task1_train_17653 | Located on Chromosome 12, this mutation impacts TUBA1A (tubulin alpha 1a). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Tubulinopathy | AAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAAT... | AAAAAAAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAAT... |
Task1_train_17654 | Gene TUBA1A (tubulin alpha 1a), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Tubulinopathy | AAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTAT... | AAAAAAAAAAAAAAAGTACATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTAT... |
Task1_train_17655 | A variant found in Chromosome 12 affects TUBA1A (tubulin alpha 1a). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Lissencephaly due to TUBA1A mutation | ATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTA... | ATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTA... |
Task1_train_17656 | The gene TUBA1A (tubulin alpha 1a) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Tubulinopathy | ATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTA... | ATGATGCTCTGTAATGGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTA... |
Task1_train_17657 | Mutation context: Chromosome 12, Gene TUBA1A (tubulin alpha 1a). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Tubulinopathy | GGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTG... | GGTAATCTTTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTG... |
Task1_train_17658 | Given a variant located on Chromosome 12 and affecting TUBA1A (tubulin alpha 1a), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lissencephaly due to TUBA1A mutation | TTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACC... | TTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACC... |
Task1_train_17659 | This alteration occurs within gene TUBA1A (tubulin alpha 1a) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Tubulinopathy | TTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACC... | TTAGATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACC... |
Task1_train_17660 | This sequence variant lies in TUBA1A (tubulin alpha 1a) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Tubulinopathy | ATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAA... | ATATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAA... |
Task1_train_17661 | This mutation occurs in TUBA1A (tubulin alpha 1a) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Tubulinopathy | ATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACT... | ATACATTTTGTGTTTCATAAATAAAAGTTTTAAATTACTAAGATACTTTAAATACAAACGTCACTTCCTAGGATATGTATAAACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACT... |
Task1_train_17662 | Here’s a variant in TUBA1A (tubulin alpha 1a) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Tubulinopathy | ACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTT... | ACCACAGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTT... |
Task1_train_17663 | The gene TUBA1A (tubulin alpha 1a), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Tubulinopathy | AGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCA... | AGGCAACACTTATTTTTTATTCTCAATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCA... |
Task1_train_17664 | This mutation is located in gene TUBA1A (tubulin alpha 1a) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cerebral palsy | AATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACA... | AATGCACTAAATACATGAAAAACTTCAGACACCCAGATAGAAAACACAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACA... |
Task1_train_17665 | A variant found in Chromosome 12 affects TUBA1A (tubulin alpha 1a). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Tubulinopathy | CAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGG... | CAGGACTGAATTCATTTAAGACAGGGAATACTTTATTCAAAACCCATCACAGAAATGGACAGCTTGGGTCTGTAACAAAGCATTCATGTTTTAGAGCATAGGTCAGTAATTGTATATGAGAGCATACACTGCTACATACAAATTAACTGATCAGACCACAACTTTTCAATGTTTAAAACAGAATAAGCTTCCCTGTAAAAGCAGCACCTTTGTGACGTTTTAACTTTAGTATTCCTCTCCTTCTTCCTCACCCTCTCCTTCAACAGAATCCACACCAACCTCCTCATAATCCTTCTCAAGGGCAGCCATGTCCTCACGGG... |
Task1_train_17666 | With a mutation on Chromosome 12 in gene AQP2 (aquaporin 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | GGTGGGCCCCAGATGCCCTTTATATGACAGGGGTTGGGGTCCCCCTCTCCGTCGATCTTCTCCCGGAGGACCCAGAATGCCTGAAGTTGGGAGGGATGGCTGAGGGAAGAGTGCCAGGGCACCAGGTGTCTATGTGTCAGGCCAGGAGTTAGGCACTGGAAATACACAGGAGAACAAACCCCACAGGAATCCCTGCTCTTTTGGAACATCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATAT... | GGTGGGCCCCAGATGCCCTTTATATGACAGGGGTTGGGGTCCCCCTCTCCGTCGATCTTCTCCCGGAGGACCCAGAATGCCTGAAGTTGGGAGGGATGGCTGAGGGAAGAGTGCCAGGGCACCAGGTGTCTATGTGTCAGGCCAGGAGTTAGGCACTGGAAATACACAGGAGAACAAACCCCACAGGAATCCCTGCTCTTTTGGAACATCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATAT... |
Task1_train_17667 | This variant impacts the gene AQP2 (aquaporin 2) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | CCCGGAGGACCCAGAATGCCTGAAGTTGGGAGGGATGGCTGAGGGAAGAGTGCCAGGGCACCAGGTGTCTATGTGTCAGGCCAGGAGTTAGGCACTGGAAATACACAGGAGAACAAACCCCACAGGAATCCCTGCTCTTTTGGAACATCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAAC... | CCCGGAGGACCCAGAATGCCTGAAGTTGGGAGGGATGGCTGAGGGAAGAGTGCCAGGGCACCAGGTGTCTATGTGTCAGGCCAGGAGTTAGGCACTGGAAATACACAGGAGAACAAACCCCACAGGAATCCCTGCTCTTTTGGAACATCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAAC... |
Task1_train_17668 | This variant affects the gene AQP2 (aquaporin 2) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | AGGAGAACAAACCCCACAGGAATCCCTGCTCTTTTGGAACATCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAACTTTATGGGGTAGGCATCCACACTCCCATTGTCCAGACAAGGAAACTGAGGCGCAGAATGTGGCTCGGTAGTGTGGGGTGTGGCAGAAAGCTCCAGACCAGGCTCCA... | AGGAGAACAAACCCCACAGGAATCCCTGCTCTTTTGGAACATCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAACTTTATGGGGTAGGCATCCACACTCCCATTGTCCAGACAAGGAAACTGAGGCGCAGAATGTGGCTCGGTAGTGTGGGGTGTGGCAGAAAGCTCCAGACCAGGCTCCA... |
Task1_train_17669 | The variant affects gene AQP2 (aquaporin 2), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | TTGGAACATCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAACTTTATGGGGTAGGCATCCACACTCCCATTGTCCAGACAAGGAAACTGAGGCGCAGAATGTGGCTCGGTAGTGTGGGGTGTGGCAGAAAGCTCCAGACCAGGCTCCAGTCCCAGCTCAGCCACTAACCTGCTGGAGCACC... | TTGGAACATCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAACTTTATGGGGTAGGCATCCACACTCCCATTGTCCAGACAAGGAAACTGAGGCGCAGAATGTGGCTCGGTAGTGTGGGGTGTGGCAGAAAGCTCCAGACCAGGCTCCAGTCCCAGCTCAGCCACTAACCTGCTGGAGCACC... |
Task1_train_17670 | This alteration in AQP2 (aquaporin 2) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | TCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAACTTTATGGGGTAGGCATCCACACTCCCATTGTCCAGACAAGGAAACTGAGGCGCAGAATGTGGCTCGGTAGTGTGGGGTGTGGCAGAAAGCTCCAGACCAGGCTCCAGTCCCAGCTCAGCCACTAACCTGCTGGAGCACCCTAGATAA... | TCACTTCTGTATGGGTAATTTTTATTCTTTCTTCCTCCCCTTCCTCTTCCGCTTTCTCTTCCTCCTCCTTCATAATAGCAGGAGTCACGAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAACTTTATGGGGTAGGCATCCACACTCCCATTGTCCAGACAAGGAAACTGAGGCGCAGAATGTGGCTCGGTAGTGTGGGGTGTGGCAGAAAGCTCCAGACCAGGCTCCAGTCCCAGCTCAGCCACTAACCTGCTGGAGCACCCTAGATAA... |
Task1_train_17671 | Chromosome 12 houses a mutation in gene AQP2 (aquaporin 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | GAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAACTTTATGGGGTAGGCATCCACACTCCCATTGTCCAGACAAGGAAACTGAGGCGCAGAATGTGGCTCGGTAGTGTGGGGTGTGGCAGAAAGCTCCAGACCAGGCTCCAGTCCCAGCTCAGCCACTAACCTGCTGGAGCACCCTAGATAAGTCACTCCCCTCCCTGGGCCTATACTCACCCCTCCTGCCCACCCCACATCCCCATGATACAACACAAAGCGCTCCACTCCAGTCTCCA... | GAGTCCCCATATATATATGTATATGATACATTCTCAGTTGCAAAATACCTTCCCGTTCATTATCTTACTGCATTCTCAAAACAACTTTATGGGGTAGGCATCCACACTCCCATTGTCCAGACAAGGAAACTGAGGCGCAGAATGTGGCTCGGTAGTGTGGGGTGTGGCAGAAAGCTCCAGACCAGGCTCCAGTCCCAGCTCAGCCACTAACCTGCTGGAGCACCCTAGATAAGTCACTCCCCTCCCTGGGCCTATACTCACCCCTCCTGCCCACCCCACATCCCCATGATACAACACAAAGCGCTCCACTCCAGTCTCCA... |
Task1_train_17672 | Here is a mutation in AQP2, AQP5-AS1 (aquaporin 2| AQP5 and AQP2 antisense RNA 2) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | TTCTCTGCTTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAATGGTACAATCTCAACTCACTGCAACCTCCACCTCAGGCCATTCTCTTGCCTCAGCCTCCCATGGGATTACACGCCTGTAATCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGACTCGCCACGTTGGTAAGGCTGGTTTCAAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACACCCAGCCTCTGTTCTTTAAAGAGGAAAATATGACAAGGC... | TTCTCTGCTTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAATGGTACAATCTCAACTCACTGCAACCTCCACCTCAGGCCATTCTCTTGCCTCAGCCTCCCATGGGATTACACGCCTGTAATCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGACTCGCCACGTTGGTAAGGCTGGTTTCAAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACACCCAGCCTCTGTTCTTTAAAGAGGAAAATATGACAAGGC... |
Task1_train_17673 | Given this variant in gene AQP2, AQP5-AS1 (aquaporin 2| AQP5 and AQP2 antisense RNA 2) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | ATGGTACAATCTCAACTCACTGCAACCTCCACCTCAGGCCATTCTCTTGCCTCAGCCTCCCATGGGATTACACGCCTGTAATCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGACTCGCCACGTTGGTAAGGCTGGTTTCAAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACACCCAGCCTCTGTTCTTTAAAGAGGAAAATATGACAAGGCTGGGGGCCAGGGGCCAAGGAAAGGCTAGGTGGGCAAGCAGAGGAGTGGGCTCATTTCCTCTGAGA... | ATGGTACAATCTCAACTCACTGCAACCTCCACCTCAGGCCATTCTCTTGCCTCAGCCTCCCATGGGATTACACGCCTGTAATCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGACTCGCCACGTTGGTAAGGCTGGTTTCAAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACACCCAGCCTCTGTTCTTTAAAGAGGAAAATATGACAAGGCTGGGGGCCAGGGGCCAAGGAAAGGCTAGGTGGGCAAGCAGAGGAGTGGGCTCATTTCCTCTGAGA... |
Task1_train_17674 | This sequence change occurs on Chromosome 12, altering AQP2, AQP5-AS1 (aquaporin 2| AQP5 and AQP2 antisense RNA 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | CAGCTAATTTTTGTATTTTTAGTAGAGACAGGACTCGCCACGTTGGTAAGGCTGGTTTCAAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACACCCAGCCTCTGTTCTTTAAAGAGGAAAATATGACAAGGCTGGGGGCCAGGGGCCAAGGAAAGGCTAGGTGGGCAAGCAGAGGAGTGGGCTCATTTCCTCTGAGAACAAAATTAGTTCAGTTTGCAGCAAGAAGAGGTCCAGTTAGACTGAAAAAGGAACTTCCTGAGAGCATGACCAGGAAGTCCTTC... | CAGCTAATTTTTGTATTTTTAGTAGAGACAGGACTCGCCACGTTGGTAAGGCTGGTTTCAAACTCCTAACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACACCCAGCCTCTGTTCTTTAAAGAGGAAAATATGACAAGGCTGGGGGCCAGGGGCCAAGGAAAGGCTAGGTGGGCAAGCAGAGGAGTGGGCTCATTTCCTCTGAGAACAAAATTAGTTCAGTTTGCAGCAAGAAGAGGTCCAGTTAGACTGAAAAAGGAACTTCCTGAGAGCATGACCAGGAAGTCCTTC... |
Task1_train_17675 | Here is a genetic alteration in AQP2, AQP5-AS1 (aquaporin 2| AQP5 and AQP2 antisense RNA 2) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | GGGCACTGGGAGTGAAAGGCCATGGGAAACATGCAGTCCTCCTCCTCCATCATTTCACAACTGACTGGGGCCCTCAGAAGAGAAAGGTCTGGGAGGGCTCCTCCATGCCACTTCTCAGCATTTACCACCTTGAGGACCTGGGGAGAACCCTGCCTGGATGGAATGGGGCAGTGGTGGGACCAACTTGCTCTGAGGCTAAGGAGAGCCAGATGACCCTCAAGACAATCCCAAGTGTCCTTTGAGGACACTGAGAGCCAGCCTGGCCACCAGGAAGTTAATCATTGACATGCACCTGCCCTGTGCCAGGCCAGCTATCATCT... | GGGCACTGGGAGTGAAAGGCCATGGGAAACATGCAGTCCTCCTCCTCCATCATTTCACAACTGACTGGGGCCCTCAGAAGAGAAAGGTCTGGGAGGGCTCCTCCATGCCACTTCTCAGCATTTACCACCTTGAGGACCTGGGGAGAACCCTGCCTGGATGGAATGGGGCAGTGGTGGGACCAACTTGCTCTGAGGCTAAGGAGAGCCAGATGACCCTCAAGACAATCCCAAGTGTCCTTTGAGGACACTGAGAGCCAGCCTGGCCACCAGGAAGTTAATCATTGACATGCACCTGCCCTGTGCCAGGCCAGCTATCATCT... |
Task1_train_17676 | This alteration in AQP2, AQP5-AS1 (aquaporin 2| AQP5 and AQP2 antisense RNA 2) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Nephrogenic diabetes insipidus | GAAACATGCAGTCCTCCTCCTCCATCATTTCACAACTGACTGGGGCCCTCAGAAGAGAAAGGTCTGGGAGGGCTCCTCCATGCCACTTCTCAGCATTTACCACCTTGAGGACCTGGGGAGAACCCTGCCTGGATGGAATGGGGCAGTGGTGGGACCAACTTGCTCTGAGGCTAAGGAGAGCCAGATGACCCTCAAGACAATCCCAAGTGTCCTTTGAGGACACTGAGAGCCAGCCTGGCCACCAGGAAGTTAATCATTGACATGCACCTGCCCTGTGCCAGGCCAGCTATCATCTCATCATTGGTACAACGCTATAAGGG... | GAAACATGCAGTCCTCCTCCTCCATCATTTCACAACTGACTGGGGCCCTCAGAAGAGAAAGGTCTGGGAGGGCTCCTCCATGCCACTTCTCAGCATTTACCACCTTGAGGACCTGGGGAGAACCCTGCCTGGATGGAATGGGGCAGTGGTGGGACCAACTTGCTCTGAGGCTAAGGAGAGCCAGATGACCCTCAAGACAATCCCAAGTGTCCTTTGAGGACACTGAGAGCCAGCCTGGCCACCAGGAAGTTAATCATTGACATGCACCTGCCCTGTGCCAGGCCAGCTATCATCTCATCATTGGTACAACGCTATAAGGG... |
Task1_train_17677 | Here is a mutation in AQP5-AS1, AQP2 (AQP5 and AQP2 antisense RNA 2| aquaporin 2) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | GCGGCCCAGTTATGAAATCACCTCTTTACTCAGCCCCGAGTTCTCTCCTTACCCAAGGCAGGGTCTGCTGAGACCATGGGCAGCCTACATGGGTGTGGAGGCATTGTCCAACACAGCTCCAGGGCCCTTACCCCAACCTCCATAGGATGTGCAGGGAGCAAACTAACAGGGCAAACCTGAGGCCTGAAAGGCAGTGGGGAATAGACAAGGGTTAGGGAAAGAGGTAGATTCCGGACTCATAGCGGAAAGGGGCACACTAGGACTGTCCCCCAGACCCAAGTCCCTAGACCCTGTCTCTGGGAGCCATTTAACCTCAGGAA... | GCGGCCCAGTTATGAAATCACCTCTTTACTCAGCCCCGAGTTCTCTCCTTACCCAAGGCAGGGTCTGCTGAGACCATGGGCAGCCTACATGGGTGTGGAGGCATTGTCCAACACAGCTCCAGGGCCCTTACCCCAACCTCCATAGGATGTGCAGGGAGCAAACTAACAGGGCAAACCTGAGGCCTGAAAGGCAGTGGGGAATAGACAAGGGTTAGGGAAAGAGGTAGATTCCGGACTCATAGCGGAAAGGGGCACACTAGGACTGTCCCCCAGACCCAAGTCCCTAGACCCTGTCTCTGGGAGCCATTTAACCTCAGGAA... |
Task1_train_17678 | This is a variant in AQP2, AQP5-AS1 (aquaporin 2| AQP5 and AQP2 antisense RNA 2), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | CTTACCCCAACCTCCATAGGATGTGCAGGGAGCAAACTAACAGGGCAAACCTGAGGCCTGAAAGGCAGTGGGGAATAGACAAGGGTTAGGGAAAGAGGTAGATTCCGGACTCATAGCGGAAAGGGGCACACTAGGACTGTCCCCCAGACCCAAGTCCCTAGACCCTGTCTCTGGGAGCCATTTAACCTCAGGAAGAAAGACCACAGGCCTCTCATTGCACCAAGGTCTGATGGTCTACAGACAGAGGAAGGTCTTCCTGCTAACCGGCCCAAAGCTTCCTGAGGCAGTTGAAACCTCTTCCCTTCTTGTTCTTTGGGAAA... | CTTACCCCAACCTCCATAGGATGTGCAGGGAGCAAACTAACAGGGCAAACCTGAGGCCTGAAAGGCAGTGGGGAATAGACAAGGGTTAGGGAAAGAGGTAGATTCCGGACTCATAGCGGAAAGGGGCACACTAGGACTGTCCCCCAGACCCAAGTCCCTAGACCCTGTCTCTGGGAGCCATTTAACCTCAGGAAGAAAGACCACAGGCCTCTCATTGCACCAAGGTCTGATGGTCTACAGACAGAGGAAGGTCTTCCTGCTAACCGGCCCAAAGCTTCCTGAGGCAGTTGAAACCTCTTCCCTTCTTGTTCTTTGGGAAA... |
Task1_train_17679 | Here is a genetic alteration in AQP2, AQP5-AS1 (aquaporin 2| AQP5 and AQP2 antisense RNA 2) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Diabetes insipidus, nephrogenic, autosomal | CCATAGGATGTGCAGGGAGCAAACTAACAGGGCAAACCTGAGGCCTGAAAGGCAGTGGGGAATAGACAAGGGTTAGGGAAAGAGGTAGATTCCGGACTCATAGCGGAAAGGGGCACACTAGGACTGTCCCCCAGACCCAAGTCCCTAGACCCTGTCTCTGGGAGCCATTTAACCTCAGGAAGAAAGACCACAGGCCTCTCATTGCACCAAGGTCTGATGGTCTACAGACAGAGGAAGGTCTTCCTGCTAACCGGCCCAAAGCTTCCTGAGGCAGTTGAAACCTCTTCCCTTCTTGTTCTTTGGGAAACAGAAATTCCGGA... | CCATAGGATGTGCAGGGAGCAAACTAACAGGGCAAACCTGAGGCCTGAAAGGCAGTGGGGAATAGACAAGGGTTAGGGAAAGAGGTAGATTCCGGACTCATAGCGGAAAGGGGCACACTAGGACTGTCCCCCAGACCCAAGTCCCTAGACCCTGTCTCTGGGAGCCATTTAACCTCAGGAAGAAAGACCACAGGCCTCTCATTGCACCAAGGTCTGATGGTCTACAGACAGAGGAAGGTCTTCCTGCTAACCGGCCCAAAGCTTCCTGAGGCAGTTGAAACCTCTTCCCTTCTTGTTCTTTGGGAAACAGAAATTCCGGA... |
Task1_train_17680 | This variant lies on Chromosome 12 and affects the gene AQP5, AQP5-AS1 (aquaporin 5| AQP5 and AQP2 antisense RNA 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TTCCTCTGCACCCTCCCGCTGGACTCTTCCCCCTAGCTTAGCACCACACTAAACCCTCAAGGGGCTTTTAAAATTAACAGTCACAACGTAAGGAGACTTTACTGAGCCTTACTCTGTGCCAGGCACTGTGCTAAGGGCTTCTCTAACACACATGGGGATGGGAGTCTTTAATGCAGCTCCTCTCCCGGGATCCTGGGGGTGGGTCCTCCCCCTCTAAGCCCTAGAGAGCCCTCCAGCCTCGTTCTCCACATGCCCGACCTGGAGTGGGTGGGAAGAGGGAGAGGGTGGTGTGCGAGGAGGCAGCAGGTCACAAAGGGGTT... | TTCCTCTGCACCCTCCCGCTGGACTCTTCCCCCTAGCTTAGCACCACACTAAACCCTCAAGGGGCTTTTAAAATTAACAGTCACAACGTAAGGAGACTTTACTGAGCCTTACTCTGTGCCAGGCACTGTGCTAAGGGCTTCTCTAACACACATGGGGATGGGAGTCTTTAATGCAGCTCCTCTCCCGGGATCCTGGGGGTGGGTCCTCCCCCTCTAAGCCCTAGAGAGCCCTCCAGCCTCGTTCTCCACATGCCCGACCTGGAGTGGGTGGGAAGAGGGAGAGGGTGGTGTGCGAGGAGGCAGCAGGTCACAAAGGGGTT... |
Task1_train_17681 | Consider this mutation in AQP5, AQP5-AS1 (aquaporin 5| AQP5 and AQP2 antisense RNA 2) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Palmoplantar keratoderma, Bothnian type | GACTCTTCCCCCTAGCTTAGCACCACACTAAACCCTCAAGGGGCTTTTAAAATTAACAGTCACAACGTAAGGAGACTTTACTGAGCCTTACTCTGTGCCAGGCACTGTGCTAAGGGCTTCTCTAACACACATGGGGATGGGAGTCTTTAATGCAGCTCCTCTCCCGGGATCCTGGGGGTGGGTCCTCCCCCTCTAAGCCCTAGAGAGCCCTCCAGCCTCGTTCTCCACATGCCCGACCTGGAGTGGGTGGGAAGAGGGAGAGGGTGGTGTGCGAGGAGGCAGCAGGTCACAAAGGGGTTACAAGCTCAGAGGGAAGGGGG... | GACTCTTCCCCCTAGCTTAGCACCACACTAAACCCTCAAGGGGCTTTTAAAATTAACAGTCACAACGTAAGGAGACTTTACTGAGCCTTACTCTGTGCCAGGCACTGTGCTAAGGGCTTCTCTAACACACATGGGGATGGGAGTCTTTAATGCAGCTCCTCTCCCGGGATCCTGGGGGTGGGTCCTCCCCCTCTAAGCCCTAGAGAGCCCTCCAGCCTCGTTCTCCACATGCCCGACCTGGAGTGGGTGGGAAGAGGGAGAGGGTGGTGTGCGAGGAGGCAGCAGGTCACAAAGGGGTTACAAGCTCAGAGGGAAGGGGG... |
Task1_train_17682 | Here is a variant affecting AQP5 (aquaporin 5) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Palmoplantar keratoderma, Bothnian type | AGAGAAGAAAAGGGGAAGGCCGCGCACGGAGCGCGGTAAAGGCCGGCGGAGCTAGACGCCCCGAGGTCGGAGTGAAGCGCCGGGACCGAGCCCCGTCTCCCAGGGAGTCCGGGGCGCACGGCACCGAGGAGAGCGCGGGAGCCAACCTGGGCGCATCATGCGCAGGGCCCGGGACGCTGGGCCGGTCTACACCGCCGCCTGGGTCACGTGGCCCGGACGGGCCGGCGGCTGCCCCGGCCGGGGGGCGGGGGTCGCGCCGGGGTTGCGCTGGACGACGGAGAGCGGCGGGCCCGCAGCGGCCTGGAGCCTCCCAACCCGCG... | AGAGAAGAAAAGGGGAAGGCCGCGCACGGAGCGCGGTAAAGGCCGGCGGAGCTAGACGCCCCGAGGTCGGAGTGAAGCGCCGGGACCGAGCCCCGTCTCCCAGGGAGTCCGGGGCGCACGGCACCGAGGAGAGCGCGGGAGCCAACCTGGGCGCATCATGCGCAGGGCCCGGGACGCTGGGCCGGTCTACACCGCCGCCTGGGTCACGTGGCCCGGACGGGCCGGCGGCTGCCCCGGCCGGGGGGCGGGGGTCGCGCCGGGGTTGCGCTGGACGACGGAGAGCGGCGGGCCCGCAGCGGCCTGGAGCCTCCCAACCCGCG... |
Task1_train_17683 | A mutation on Chromosome 12 affecting AQP5 (aquaporin 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Palmoplantar keratoderma, Bothnian type | CTTCCTCAAGGCCGTGTTCGCAGAGTTCTTGGCCACCCTCATCTTCGTCTTCTTTGGCCTGGGCTCGGCCCTCAAGTGGCCGTCGGCGCTGCCTACCATCCTGCAGATCGCGCTGGCGTTTGGCCTGGCCATAGGCACGCTGGCCCAGGCCCTGGGACCCGTGAGCGGCGGCCACATCAACCCCGCCATCACCCTGGCCCTCTTGGTGGGCAACCAGATCTCGCTGCTCCGGGCTTTCTTCTACGTGGCGGCCCAGCTGGTGGGCGCCATTGCCGGGGCTGGCATCCTCTACGGTGTGGCACCGCTCAATGCCCGGGGCA... | CTTCCTCAAGGCCGTGTTCGCAGAGTTCTTGGCCACCCTCATCTTCGTCTTCTTTGGCCTGGGCTCGGCCCTCAAGTGGCCGTCGGCGCTGCCTACCATCCTGCAGATCGCGCTGGCGTTTGGCCTGGCCATAGGCACGCTGGCCCAGGCCCTGGGACCCGTGAGCGGCGGCCACATCAACCCCGCCATCACCCTGGCCCTCTTGGTGGGCAACCAGATCTCGCTGCTCCGGGCTTTCTTCTACGTGGCGGCCCAGCTGGTGGGCGCCATTGCCGGGGCTGGCATCCTCTACGGTGTGGCACCGCTCAATGCCCGGGGCA... |
Task1_train_17684 | A genomic change on Chromosome 12 affects RACGAP1 (Rac GTPase activating protein 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Anemia, congenital dyserythropoietic, type IIIb | AACCACCTAAAAGCCAGCAAATCTGTTAGCAAACTTCCAAAGCTCAGGGCTTCTCAACTGTCTTTCAAGTTATCACATTACACAAGTTCACATACACACACACACGCACCTGCCTACCTTGGGTTGACGCTTGATGTCCTGTAACATTGTCACTGGGTCTGGATTGGGCACAGCATGGGCCACTATTGTAGGGCCAAAGACTTTAGCCAGATTGGCAACATCCATTTTAGTATGTGGACTCTGAGCCACTCTAAGCAAAAGAATATTAAATTAGAAGTCTTGCTCCTTGCTTAAATGCAGACCAAAATATAAATTCTATA... | AACCACCTAAAAGCCAGCAAATCTGTTAGCAAACTTCCAAAGCTCAGGGCTTCTCAACTGTCTTTCAAGTTATCACATTACACAAGTTCACATACACACACACACGCACCTGCCTACCTTGGGTTGACGCTTGATGTCCTGTAACATTGTCACTGGGTCTGGATTGGGCACAGCATGGGCCACTATTGTAGGGCCAAAGACTTTAGCCAGATTGGCAACATCCATTTTAGTATGTGGACTCTGAGCCACTCTAAGCAAAAGAATATTAAATTAGAAGTCTTGCTCCTTGCTTAAATGCAGACCAAAATATAAATTCTATA... |
Task1_train_17685 | A variant affecting Chromosome 12, within the gene RACGAP1 (Rac GTPase activating protein 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive | AACCACCTAAAAGCCAGCAAATCTGTTAGCAAACTTCCAAAGCTCAGGGCTTCTCAACTGTCTTTCAAGTTATCACATTACACAAGTTCACATACACACACACACGCACCTGCCTACCTTGGGTTGACGCTTGATGTCCTGTAACATTGTCACTGGGTCTGGATTGGGCACAGCATGGGCCACTATTGTAGGGCCAAAGACTTTAGCCAGATTGGCAACATCCATTTTAGTATGTGGACTCTGAGCCACTCTAAGCAAAAGAATATTAAATTAGAAGTCTTGCTCCTTGCTTAAATGCAGACCAAAATATAAATTCTATA... | AACCACCTAAAAGCCAGCAAATCTGTTAGCAAACTTCCAAAGCTCAGGGCTTCTCAACTGTCTTTCAAGTTATCACATTACACAAGTTCACATACACACACACACGCACCTGCCTACCTTGGGTTGACGCTTGATGTCCTGTAACATTGTCACTGGGTCTGGATTGGGCACAGCATGGGCCACTATTGTAGGGCCAAAGACTTTAGCCAGATTGGCAACATCCATTTTAGTATGTGGACTCTGAGCCACTCTAAGCAAAAGAATATTAAATTAGAAGTCTTGCTCCTTGCTTAAATGCAGACCAAAATATAAATTCTATA... |
Task1_train_17686 | Gene RACGAP1 (Rac GTPase activating protein 1), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Anemia, congenital dyserythropoietic, type IIIb | ACCTGCCTACCTTGGGTTGACGCTTGATGTCCTGTAACATTGTCACTGGGTCTGGATTGGGCACAGCATGGGCCACTATTGTAGGGCCAAAGACTTTAGCCAGATTGGCAACATCCATTTTAGTATGTGGACTCTGAGCCACTCTAAGCAAAAGAATATTAAATTAGAAGTCTTGCTCCTTGCTTAAATGCAGACCAAAATATAAATTCTATAAGAAAACAATTCATCCCTCATACTCCCAAACACTCAACCCACATTATCTTCCCCTTGGAAAAAAATTCCCTAACTCCCAGAACAAGTTTCTGCTGTACTCACCTCTG... | ACCTGCCTACCTTGGGTTGACGCTTGATGTCCTGTAACATTGTCACTGGGTCTGGATTGGGCACAGCATGGGCCACTATTGTAGGGCCAAAGACTTTAGCCAGATTGGCAACATCCATTTTAGTATGTGGACTCTGAGCCACTCTAAGCAAAAGAATATTAAATTAGAAGTCTTGCTCCTTGCTTAAATGCAGACCAAAATATAAATTCTATAAGAAAACAATTCATCCCTCATACTCCCAAACACTCAACCCACATTATCTTCCCCTTGGAAAAAAATTCCCTAACTCCCAGAACAAGTTTCTGCTGTACTCACCTCTG... |
Task1_train_17687 | Here is a mutation in RACGAP1 (Rac GTPase activating protein 1) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Anemia, congenital dyserythropoietic, type IIIb | ACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTATATTGTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCGTCAGTCTCCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCATAATCAACTAACATTTATTGAGCACTTAGTATGTGCCAAAAAATTTTCTAAGCCCTTTAGACATATTTACATATGTAATTCTCACAGTAATCCCATAAA... | ACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTATATTGTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCGTCAGTCTCCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCATAATCAACTAACATTTATTGAGCACTTAGTATGTGCCAAAAAATTTTCTAAGCCCTTTAGACATATTTACATATGTAATTCTCACAGTAATCCCATAAA... |
Task1_train_17688 | This mutation is located in gene RACGAP1 (Rac GTPase activating protein 1) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive | ACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTATATTGTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCGTCAGTCTCCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCATAATCAACTAACATTTATTGAGCACTTAGTATGTGCCAAAAAATTTTCTAAGCCCTTTAGACATATTTACATATGTAATTCTCACAGTAATCCCATAAA... | ACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCGGCTAATTTTTATATTGTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCGTCAGTCTCCCTAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCATAATCAACTAACATTTATTGAGCACTTAGTATGTGCCAAAAAATTTTCTAAGCCCTTTAGACATATTTACATATGTAATTCTCACAGTAATCCCATAAA... |
Task1_train_17689 | A variant has been detected on Chromosome 12 in SMARCD1 (SWI/SNF related BAF chromatin remodeling complex subunit D1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Coffin-Siris syndrome 11 | ATGTGTTCTAGGCTGCTTCTTCAGGGTTCTGTTGCTACTATGATTGGTTTAATACCTGCAGATGCCTACTTTGCCTATCTCTCTTAAGAGATATTCAGAAGATATTTTTTGAGTTTTTTTCCATTGTTGTTGGGGTTCCTTTTTCATAGGATTTTGTCTTGGGAAGTTTCTTCTGGCCTTTCCTAATGTGATTTTTATTTTCTCTCCTCTAGTCAGCCTTGTCCAAATATGATGCCACTAAACAAAAGAGGAAGTTCTCTTCCTTTTTTAAGTCCTTGGTGATTGAACTGGACAAAGACCTGTATGGGCCAGACAACCAT... | ATGTGTTCTAGGCTGCTTCTTCAGGGTTCTGTTGCTACTATGATTGGTTTAATACCTGCAGATGCCTACTTTGCCTATCTCTCTTAAGAGATATTCAGAAGATATTTTTTGAGTTTTTTTCCATTGTTGTTGGGGTTCCTTTTTCATAGGATTTTGTCTTGGGAAGTTTCTTCTGGCCTTTCCTAATGTGATTTTTATTTTCTCTCCTCTAGTCAGCCTTGTCCAAATATGATGCCACTAAACAAAAGAGGAAGTTCTCTTCCTTTTTTAAGTCCTTGGTGATTGAACTGGACAAAGACCTGTATGGGCCAGACAACCAT... |
Task1_train_17690 | Gene SMARCD1 (SWI/SNF related BAF chromatin remodeling complex subunit D1) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Coffin-Siris syndrome 11 | CCTCACGGCAACCTCCACTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGTCACCCACCATCACACCCGGCTGATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCATAGTACCTATTTTAATCAGGTTGCTATGACGATTAAATGAGGGAGTGTGTGTAAAGACTTGAGACTGTATCTGGCACATAAAAACAAC... | CCTCACGGCAACCTCCACTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGTCACCCACCATCACACCCGGCTGATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCAAGTGATCTGCCCGCCTCAGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCATAGTACCTATTTTAATCAGGTTGCTATGACGATTAAATGAGGGAGTGTGTGTAAAGACTTGAGACTGTATCTGGCACATAAAAACAAC... |
Task1_train_17691 | Here is a mutation in SMARCD1 (SWI/SNF related BAF chromatin remodeling complex subunit D1) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Coffin-Siris syndrome 11 | TGGAAGTGGCATGTGGAGTTGTCAGGCACCACCTGCCATTTAACTTCTCATTTTTCTAGTTTGAAAATGGTATGAGCTTCGTTCTTCCTTTCAGATCCATGAGACAATAGAAACCATCAACCAGCTGAAGACTCAGCGGGAGTTCATGCTGAGCTTTGCCAGAGACCCTCAGGGTTTCATCAATGACTGGCTTCAGTCCCAGTGCAGGGACCTCAAGGTAAAGAACCTAGGAGAGGTCTGAAGGGACTTAGGTCAGTGAGGTGCACAGCTGCTTTATTCATGTAGCAGCTGGTAGGAGACCCAGAGGAAGGAGTGAGGGG... | TGGAAGTGGCATGTGGAGTTGTCAGGCACCACCTGCCATTTAACTTCTCATTTTTCTAGTTTGAAAATGGTATGAGCTTCGTTCTTCCTTTCAGATCCATGAGACAATAGAAACCATCAACCAGCTGAAGACTCAGCGGGAGTTCATGCTGAGCTTTGCCAGAGACCCTCAGGGTTTCATCAATGACTGGCTTCAGTCCCAGTGCAGGGACCTCAAGGTAAAGAACCTAGGAGAGGTCTGAAGGGACTTAGGTCAGTGAGGTGCACAGCTGCTTTATTCATGTAGCAGCTGGTAGGAGACCCAGAGGAAGGAGTGAGGGG... |
Task1_train_17692 | This alteration in COX14 (cytochrome c oxidase assembly factor COX14) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 10 | TTTTTTTTTTTGAGATGGAGTCTCACTCCCCGTCATCCAGGCTGGAATGCACTGGCGCAATCTCACCTCGCTGCAACCTCCGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTTAGCCTCTCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTTCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCATCCGGTCCCACCTTGGCATTCTGAACACAGTC... | TTTTTTTTTTTGAGATGGAGTCTCACTCCCCGTCATCCAGGCTGGAATGCACTGGCGCAATCTCACCTCGCTGCAACCTCCGCCTCCCAGGTTCAAGCAGTTCTCCTGCCTTAGCCTCTCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTTGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTTCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCATCCGGTCCCACCTTGGCATTCTGAACACAGTC... |
Task1_train_17693 | A variant on Chromosome 12 in gene SLC11A2 (solute carrier family 11 member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Microcytic anemia with liver iron overload | GATGGAGCTGAGTGGGGCTGTGTGCCACATGTGTCCCACCCCGAATCTCTAAATCACACTGCATGCCCTATTCTCCACCTCTGTTTTGTACCGTTCTCCACTCTCTGTACTGCTACCCTTCTTTTAGTTCCTCAAACATACTATACTCTCTTGTTAGGAATTACTAAGAATGGAAACTACAGAAGTGACAGAAATTGAAAAATGACAAATCTTAGTAACCAAAGTGAATTTTATGGTTAGAAATATTATTTTGTAAACAGCTGATTTGACAATTCCATATACATTGTCTCGATCACCTGGAGGTAGATTGTTATGTGCTC... | GATGGAGCTGAGTGGGGCTGTGTGCCACATGTGTCCCACCCCGAATCTCTAAATCACACTGCATGCCCTATTCTCCACCTCTGTTTTGTACCGTTCTCCACTCTCTGTACTGCTACCCTTCTTTTAGTTCCTCAAACATACTATACTCTCTTGTTAGGAATTACTAAGAATGGAAACTACAGAAGTGACAGAAATTGAAAAATGACAAATCTTAGTAACCAAAGTGAATTTTATGGTTAGAAATATTATTTTGTAAACAGCTGATTTGACAATTCCATATACATTGTCTCGATCACCTGGAGGTAGATTGTTATGTGCTC... |
Task1_train_17694 | Consider this mutation in SLC11A2 (solute carrier family 11 member 2) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Microcytic anemia with liver iron overload | CTCCCAAGAACAAGCAATCTTCCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGCCACCACACCTGGCCAAAATCTTTTCTTCTGCAACTACCTAAGATAATGAGGAATACAGAATCATCATAGGACCAAGCAACATAAGGGGCTTACTATTAGGGGCCAGAGAATTCAAGACTGAGTATCCGGATAGTTTACAACACATCTTAGATATATGAAACAGATGTGTATGATACATAATTAATTTCTAAAGAAAGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTAGGAGACCAAGGCAGGCGCATTGCTT... | CTCCCAAGAACAAGCAATCTTCCCACCTCAGCCACCCAAAGTGCTGGGATTACAGGCCACCACACCTGGCCAAAATCTTTTCTTCTGCAACTACCTAAGATAATGAGGAATACAGAATCATCATAGGACCAAGCAACATAAGGGGCTTACTATTAGGGGCCAGAGAATTCAAGACTGAGTATCCGGATAGTTTACAACACATCTTAGATATATGAAACAGATGTGTATGATACATAATTAATTTCTAAAGAAAGGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTAGGAGACCAAGGCAGGCGCATTGCTT... |
Task1_train_17695 | The variant affects gene SLC11A2 (solute carrier family 11 member 2), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Microcytic anemia with liver iron overload | CCAACATGGTAAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGATGGTGGCACGTGGCTGTAATCCAAGCTAGTCAGGAGGCTGAGGCAGGAGAATCCCTGGAATCGCCTCACTGCAAGAAGCAGAGGCTGTAGTGAGCTGAGATCACACCACTGAACTCTGAACTCCAGCCTGGGCAACAGAGTGAGATTCTGTCTCAAAAAAAAAAACAAAACAAACAAACAAACAAATATATATATATATAATTATTATTACAAAATAACTATTAACGTGTATGAAGAAAGAGAAGCTAGGCTTGGTGCAGTGGCTCATGCC... | CCAACATGGTAAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGATGGTGGCACGTGGCTGTAATCCAAGCTAGTCAGGAGGCTGAGGCAGGAGAATCCCTGGAATCGCCTCACTGCAAGAAGCAGAGGCTGTAGTGAGCTGAGATCACACCACTGAACTCTGAACTCCAGCCTGGGCAACAGAGTGAGATTCTGTCTCAAAAAAAAAAACAAAACAAACAAACAAACAAATATATATATATATAATTATTATTACAAAATAACTATTAACGTGTATGAAGAAAGAGAAGCTAGGCTTGGTGCAGTGGCTCATGCC... |
Task1_train_17696 | Here is a genetic alteration in SCN8A (sodium voltage-gated channel alpha subunit 8) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cognitive impairment with or without cerebellar ataxia | TTGTTTACCTTTCCAATATTTGACAACTGGATTATATGTTAAGTTTTTTACTGATAGTGTAGTTAACTAGCCCATCAGTCAGAGGTTTAAGAGTGAACTCCTGCCACATCCCAAGCTAAGCTTCAGCAAATTATTATTTTTTTTCTTAGGATGATATTGTGGGAATCTGAAATTTTGTTTGGTATCATTGTATGGACAAATTAAAATAACCTTTGTTGAAGTCTTAACTTTATTTAGTACTCAGACTTCAGTGATTTCTTTCTGTGGCCAACTATTCAGCTTAATATATTAAAAGCCATTATTAGAGGTTTTTGAAAGTC... | TTGTTTACCTTTCCAATATTTGACAACTGGATTATATGTTAAGTTTTTTACTGATAGTGTAGTTAACTAGCCCATCAGTCAGAGGTTTAAGAGTGAACTCCTGCCACATCCCAAGCTAAGCTTCAGCAAATTATTATTTTTTTTCTTAGGATGATATTGTGGGAATCTGAAATTTTGTTTGGTATCATTGTATGGACAAATTAAAATAACCTTTGTTGAAGTCTTAACTTTATTTAGTACTCAGACTTCAGTGATTTCTTTCTGTGGCCAACTATTCAGCTTAATATATTAAAAGCCATTATTAGAGGTTTTTGAAAGTC... |
Task1_train_17697 | The gene SCN8A (sodium voltage-gated channel alpha subunit 8) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTGTTTACCTTTCCAATATTTGACAACTGGATTATATGTTAAGTTTTTTACTGATAGTGTAGTTAACTAGCCCATCAGTCAGAGGTTTAAGAGTGAACTCCTGCCACATCCCAAGCTAAGCTTCAGCAAATTATTATTTTTTTTCTTAGGATGATATTGTGGGAATCTGAAATTTTGTTTGGTATCATTGTATGGACAAATTAAAATAACCTTTGTTGAAGTCTTAACTTTATTTAGTACTCAGACTTCAGTGATTTCTTTCTGTGGCCAACTATTCAGCTTAATATATTAAAAGCCATTATTAGAGGTTTTTGAAAGTC... | TTGTTTACCTTTCCAATATTTGACAACTGGATTATATGTTAAGTTTTTTACTGATAGTGTAGTTAACTAGCCCATCAGTCAGAGGTTTAAGAGTGAACTCCTGCCACATCCCAAGCTAAGCTTCAGCAAATTATTATTTTTTTTCTTAGGATGATATTGTGGGAATCTGAAATTTTGTTTGGTATCATTGTATGGACAAATTAAAATAACCTTTGTTGAAGTCTTAACTTTATTTAGTACTCAGACTTCAGTGATTTCTTTCTGTGGCCAACTATTCAGCTTAATATATTAAAAGCCATTATTAGAGGTTTTTGAAAGTC... |
Task1_train_17698 | Located on Chromosome 12, this mutation impacts SCN8A (sodium voltage-gated channel alpha subunit 8). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Developmental and epileptic encephalopathy, 13 | GTTTTTTGACTTCTCTAAGGTTAAAAACAGCTCTGGGGGGCCTCCTTACCTTCTTCAAAATGATCATGTACTAGATAGCTGCAAAGTTAACTTCCTTGGAATACAGTTCAGGACCCAGTACAACATTCCAAAGGTCTTAGTTTGTGCATTTCAGTAAGTTTCATTCAAAGCATTTCTTTCTCCTCCTCACTTCCTTCCTGCTGCATTGGCTGTGCCCTTTCTGTTTTGTCTCTCTTAGTTGAAGCAACACTTCAGGCAAGTGCTAACTTAAAAGGTTCATTTAAAGTTTCTGTCCAGAAATTACCTCAAGCTATTCATTT... | GTTTTTTGACTTCTCTAAGGTTAAAAACAGCTCTGGGGGGCCTCCTTACCTTCTTCAAAATGATCATGTACTAGATAGCTGCAAAGTTAACTTCCTTGGAATACAGTTCAGGACCCAGTACAACATTCCAAAGGTCTTAGTTTGTGCATTTCAGTAAGTTTCATTCAAAGCATTTCTTTCTCCTCCTCACTTCCTTCCTGCTGCATTGGCTGTGCCCTTTCTGTTTTGTCTCTCTTAGTTGAAGCAACACTTCAGGCAAGTGCTAACTTAAAAGGTTCATTTAAAGTTTCTGTCCAGAAATTACCTCAAGCTATTCATTT... |
Task1_train_17699 | This sequence change occurs on Chromosome 12, altering SCN8A (sodium voltage-gated channel alpha subunit 8). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGCCCTTTCTGTTTTGTCTCTCTTAGTTGAAGCAACACTTCAGGCAAGTGCTAACTTAAAAGGTTCATTTAAAGTTTCTGTCCAGAAATTACCTCAAGCTATTCATTTCTTTGACAGGTACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGGTTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAGATTTCAGTGTCATCATGATGGCGTAAGTTCTCCCCTTACTTTATTGGTGTTCTGGGTGTGATTCTGTGTGTGGAGTTGTACTCCTGGGTCTGTTTG... | TGCCCTTTCTGTTTTGTCTCTCTTAGTTGAAGCAACACTTCAGGCAAGTGCTAACTTAAAAGGTTCATTTAAAGTTTCTGTCCAGAAATTACCTCAAGCTATTCATTTCTTTGACAGGTACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGAGGTTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAGATTTCAGTGTCATCATGATGGCGTAAGTTCTCCCCTTACTTTATTGGTGTTCTGGGTGTGATTCTGTGTGTGGAGTTGTACTCCTGGGTCTGTTTG... |
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