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_28500 | A variant found in Chromosome 21 affects COL6A1 (collagen type VI alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Bethlem myopathy 1A | GAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTC... | GAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTC... |
Task1_train_28501 | Here is a genetic alteration in COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Bethlem myopathy 1A | GGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGA... | GGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGA... |
Task1_train_28502 | Given a variant located on Chromosome 21 and affecting COL6A1 (collagen type VI alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Bethlem myopathy 1A | GTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAG... | GTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAG... |
Task1_train_28503 | A variant was discovered in gene COL6A1 (collagen type VI alpha 1 chain), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bethlem myopathy 1A | GTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAG... | GTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAG... |
Task1_train_28504 | This alteration occurs within gene COL6A1 (collagen type VI alpha 1 chain) located on Chromosome 21. Is it associated with a disease or is it a benign variant? | Pathogenic; Bethlem myopathy 1A | CCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAG... | CCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAG... |
Task1_train_28505 | This is a variant in COL6A1 (collagen type VI alpha 1 chain), located on Chromosome 21. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGC... | GGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGC... |
Task1_train_28506 | Here is a variant affecting COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Bethlem myopathy 1A | GGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCG... | GGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCG... |
Task1_train_28507 | Consider a variant on Chromosome 21 in gene COL6A1 (collagen type VI alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Bethlem myopathy 1A | CGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGAC... | CGGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGAC... |
Task1_train_28508 | The gene COL6A1 (collagen type VI alpha 1 chain), on Chromosome 21, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTG... | GGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCGTGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGATGTCGGGGTCCAGATGGAAGGGACGGCGGGGTCCAGCAGGCAGGCTCCGGCCGTGCAGGGTGTGGACTGTCCCGGGGGCGCTGGGGGCTTCTG... |
Task1_train_28509 | Mutation context: Chromosome 21, Gene COL6A1 (collagen type VI alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Bethlem myopathy 1A | CTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACC... | CTCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACC... |
Task1_train_28510 | Chromosome 21 houses a mutation in gene COL6A1 (collagen type VI alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bethlem myopathy 1A | TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCT... | TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCT... |
Task1_train_28511 | This variant lies on Chromosome 21 and affects the gene COL6A1 (collagen type VI alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; COL6A1-related disorder | TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCT... | TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCT... |
Task1_train_28512 | Given this context: Chromosome 21, gene COL6A1 (collagen type VI alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Bethlem myopathy 1A | TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCT... | TCCTAAAAACCATCAAACCCAGCAGCTGTGGGCCCGAGTCCCATGGCCATTTCCTGGGGGTCGAGCTGTGACCCTGGGGGGCTTCTGTGCTGCACGTCCCTCCCACCTGTGCCTGGGGGTCAGCAAAGCCGAGCAGACAGGAACGAAGGCAGGGAGTGGGGGGAGCTGGCGTGCGGGTTGGAGCTCCCAGACCCAGGCTGACCAGATGTGATGGGGAAGGTGCTTTAAAGCCCTTGATCCCTGAAGGCTGGATGAAGCGTCTTTTTAAAAACCTGTTTCGTGAGCCAGCTTTTTAGAAAGAAACGGGGCTGCCCCAACCT... |
Task1_train_28513 | The gene COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Bethlem myopathy 1A | GGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGTGTAC... | GGGGCGTTGACCACGAAGGGTGCAGGAGCTTCACAGCCAGGCCTGGGTGCTTGCACAGTCGGGGTAGAGAGAGCAATACACTAGATGCCTCCTGTCTGCCTGGTGGAGGCCACGGGGTCAGGATGGTGAATGGGCCAAGTCTGGTAGTGGGGAAGTTGTAAACATTTGAACCACCGGACAGGCCTCATCGGGAAGCATCAGCCTAACCACAGGCCAGGGACAGGCGTCTGAGCAGGCACAGGCCAGGGACAGGCGTCCGACCAGGCTCATGGCTGGGGCCAGGTGGGCCAGGTGGGCCAGGTGGGCCGGGCGATGTGTAC... |
Task1_train_28514 | This is a variant in COL6A2 (collagen type VI alpha 2 chain), located on Chromosome 21. Is this mutation a likely cause of disease or not? | Pathogenic; Bethlem myopathy 1A | TCGTGCTGGACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCAC... | TCGTGCTGGACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCAC... |
Task1_train_28515 | This sequence change occurs on Chromosome 21, altering COL6A2 (collagen type VI alpha 2 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Bethlem myopathy 1A | ACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTG... | ACACCTCGGAGAGCGTCACCATGCAGTCCCCCACGGACATCCTGCTCTTCCACATGAAGCAGTTCGTGCCGCAGTTCATCAGCCAGCTGCAGAACGAGTTCTACCTGGACCAGGTGGCGCTGAGCTGGCGCTACGGCGGCCTGCACTTCTCTGACCAGGTGGAGGTGTTCAGCCCACCGGGCAGCGACCGGGCCTCCTTCATCAAGAACCTGCAGGGCATCAGCTCCTTCCGCCGCGGCACCTTCACCGACTGCGCGCTGGCCAACATGACGGAGCAGATCCGGCAGGACCGCAGCAAGGGCACCGTCCACTTCGCCGTG... |
Task1_train_28516 | This variant affects the gene COL6A2 (collagen type VI alpha 2 chain) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Bethlem myopathy 1A | TGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACT... | TGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACT... |
Task1_train_28517 | A genomic change on Chromosome 21 affects COL6A2 (collagen type VI alpha 2 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; COL6A2-related core myopathy | TGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACT... | TGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACT... |
Task1_train_28518 | A mutation in COL6A2 (collagen type VI alpha 2 chain), located on Chromosome 21, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Bethlem myopathy 1A | AGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGC... | AGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGC... |
Task1_train_28519 | A mutation found in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; COL6A2-related disorder | GCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCG... | GCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCG... |
Task1_train_28520 | This variant affects the gene COL6A2 (collagen type VI alpha 2 chain) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Bethlem myopathy 1A | GCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCG... | GCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCG... |
Task1_train_28521 | This mutation occurs in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | TCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCA... | TCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCA... |
Task1_train_28522 | A variant found in Chromosome 21 affects COL6A2 (collagen type VI alpha 2 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | GCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGA... | GCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGA... |
Task1_train_28523 | A variant on Chromosome 21 in gene COL6A2 (collagen type VI alpha 2 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAG... | CACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAG... |
Task1_train_28524 | The gene COL6A2 (collagen type VI alpha 2 chain) is located on Chromosome 21, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Bethlem myopathy 1A | AACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCG... | AACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCG... |
Task1_train_28525 | Gene COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Bethlem myopathy 1A | AACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCG... | AACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCG... |
Task1_train_28526 | Chromosome 21 houses a mutation in gene COL6A2 (collagen type VI alpha 2 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bethlem myopathy 1A | ACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGC... | ACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGC... |
Task1_train_28527 | A genomic change on Chromosome 21 affects COL6A2 (collagen type VI alpha 2 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Bethlem myopathy 1A | ACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGC... | ACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGC... |
Task1_train_28528 | Assess the clinical impact of this variant on gene COL6A2 (collagen type VI alpha 2 chain), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Bethlem myopathy 1A | CTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCC... | CTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCC... |
Task1_train_28529 | A genomic change on Chromosome 21 affects COL6A2 (collagen type VI alpha 2 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Bethlem myopathy 1A | CTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCC... | CTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCC... |
Task1_train_28530 | This is a variant in COL6A2 (collagen type VI alpha 2 chain), located on Chromosome 21. Is this mutation a likely cause of disease or not? | Pathogenic; Bethlem myopathy 1A | CCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACT... | CCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAAGGGCTACCGTGGACAGAAGGTAAGATGCCCAGATTACCTGCAGGGTCTGCGCTACCAGGAAGCCCCTGATTTGTTTTGAAATCCACACTTGGCCGGGCGTGGTGGCTCATACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCGTAGTGGCATGCGCCTGTAGTCCCAGCTACT... |
Task1_train_28531 | This variant impacts the gene COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21. Is the change likely to result in a pathogenic outcome? | Pathogenic; Bethlem myopathy 1A | GCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATA... | GCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATA... |
Task1_train_28532 | A variant has been detected on Chromosome 21 in COL6A2 (collagen type VI alpha 2 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Bethlem myopathy 1A | GCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATA... | GCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATA... |
Task1_train_28533 | This variant lies on Chromosome 21 and affects the gene COL6A2 (collagen type VI alpha 2 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Bethlem myopathy 1A | CAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAA... | CAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAA... |
Task1_train_28534 | Here is a genetic alteration in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | CAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAA... | CAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAGAAAGCCACATTTAAGGCCAGCTGTATCTCAAATTGTCTCAACACTTCTGTCCCTGGAGAAACTAAAACTCTATATGTCTAATTCCTTTTAAATAGTATATTGAGAAAAGCAGAAGCTTGTAAAAAATGAGATATGCCATTAAAATACTTTGGTAAGCAAGCATATTCAAGTAAGTAAAATGTGAGATGCACTACACTTAATAA... |
Task1_train_28535 | Consider this mutation in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21. Is this a benign change or a disease-causing variant? | Pathogenic; Bethlem myopathy 1A | GAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTT... | GAGATGCACTACACTTAATAATATGATTGCTCATTAATATGAAGGAACCTCTTTTGTGGCTTACTAAATAAGCAGTTTTAGGGAGCCTGGTTTGAATGTCCCCTGCATTTTCTGGTTTGAACATCCCCTGCATTTTCCTAACAGAGGTGCATCAAATAAAGTCCTTCCAAAACTCACTAACAGAGTATGTGAAACTCCAACAATTCACATCTGTTAAAAATTATAAAGAAAAGCATAGGAGGAGAAAGTAGCTTCTAAGGAGATGAAATAAGGAATTGACCATCATAGAGGATGTTACTGCTACGTAGCTTCGTGTTTTT... |
Task1_train_28536 | A genetic alteration is present in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Bethlem myopathy 1A | GGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGG... | GGCAGATGGATGGATGGGTGAGTCAGTGGATAGATGGATGGGTGGGTGGATAGAGGATGGATGGTTGGGTAGGTGATGGGTGGATGAGTGGATAGATGGGTATGTGAGTGAGTGGGGGGATGGGTAGGTGGGTGGATGGATGGTTAGGTGAATGAGTGGATGGACAGACGGACAGTGGGTGGATGGATGAGTGAACGGATGGACCGATGGATGAATGGGTGGGTGGGTAGAGGATGGACGGACAGGTGAGTGGGTGGGTGGATGGATAGATGGGTAAGTGAGTGGATAGATAGATGGGTGGGTGGACAGAGGATGGGTGG... |
Task1_train_28537 | This alteration in COL6A2 (collagen type VI alpha 2 chain) on Chromosome 21 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Ullrich congenital muscular dystrophy 1B | CCACCTGGTGGCAGGTGAAGGCTTCCGGTTGGGCAGCAGATAGTCCTGGGGGAAGCTGGCAGTCCTGGCACCATGACGTATCTGGGCTGGTGTCATGCACAGTAGGGCGAATGGCCACAGCTGCCTGCCAGCAGCCCTGATCCCGGGGTGTCTGCACCCTTCCAGCCCAACCTCTGGGTCTCCAAAAGCACAGTCGGGGGAGCATCCACCAGGCACAACCTCTGCGGTCCTCAGAGGACTGAGCAGAGAATCCCAGGGTCCACAATGTTGGGGAGCGGCAGGGATCACCATCCAAAGGGAGCGGCCCCCACGGCGAGCTG... | CCACCTGGTGGCAGGTGAAGGCTTCCGGTTGGGCAGCAGATAGTCCTGGGGGAAGCTGGCAGTCCTGGCACCATGACGTATCTGGGCTGGTGTCATGCACAGTAGGGCGAATGGCCACAGCTGCCTGCCAGCAGCCCTGATCCCGGGGTGTCTGCACCCTTCCAGCCCAACCTCTGGGTCTCCAAAAGCACAGTCGGGGGAGCATCCACCAGGCACAACCTCTGCGGTCCTCAGAGGACTGAGCAGAGAATCCCAGGGTCCACAATGTTGGGGAGCGGCAGGGATCACCATCCAAAGGGAGCGGCCCCCACGGCGAGCTG... |
Task1_train_28538 | Gene FTCD (formimidoyltransferase cyclodeaminase), found on Chromosome 21, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Glutamate formiminotransferase deficiency | GGCTCCTAAAACTCTGGAATTTCAGTAATAAACAGGTATTTACCTACTCAATACTTTAAACACCTTCAAGTACTCCCCACAACGTATTAATTGCAAAAGGAAAAATAGTAACATTGCAGTGAAGGGTCCAGGAGGAAGGGGGTCGCCTTGGCAAGTGACGGGTCCACGTCGGCACCCTGAGAAAATGAGCATCATGGGGAGTCGGCGTCTCTGAGGAGGACACAATACCATCTATGCTTTTCCTGCCAAAAATGCGTAACTGGCTGGGCGTGTTGGTGCACACCTGTCGTCCCAACACTTTTAGGAGGCTGACGTGAGTG... | GGCTCCTAAAACTCTGGAATTTCAGTAATAAACAGGTATTTACCTACTCAATACTTTAAACACCTTCAAGTACTCCCCACAACGTATTAATTGCAAAAGGAAAAATAGTAACATTGCAGTGAAGGGTCCAGGAGGAAGGGGGTCGCCTTGGCAAGTGACGGGTCCACGTCGGCACCCTGAGAAAATGAGCATCATGGGGAGTCGGCGTCTCTGAGGAGGACACAATACCATCTATGCTTTTCCTGCCAAAAATGCGTAACTGGCTGGGCGTGTTGGTGCACACCTGTCGTCCCAACACTTTTAGGAGGCTGACGTGAGTG... |
Task1_train_28539 | This variant affects the gene LSS (lanosterol synthase) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Alopecia-intellectual disability syndrome 4 | AATGTCTGTTTATTAAGGCAGATGCTCATAAAAGTGACTTTCAGTAACATTTTCAGTATAAAAATGGATTTACATTTCATTTCTGGAAAACCGTTTTGTACAGTCTGACCATGGCTAGGAGTCCCAGGGACAGCAGCCTCTGCTCAGGGCAGACTCTGTGATTCACTGTCTGTCCTGCTGCTACCCCACGTGGGGGAGAACACGTGGGCTGAGAAAAAAAAACAGCATGTGCAAACCTGACAGATGTCAAGGGTCCCAACACAGTTCCTTCAGCGAAAATAAAGCCCAGTTTTAAGATGTGCAGGGAAGTGTTGACACTG... | AATGTCTGTTTATTAAGGCAGATGCTCATAAAAGTGACTTTCAGTAACATTTTCAGTATAAAAATGGATTTACATTTCATTTCTGGAAAACCGTTTTGTACAGTCTGACCATGGCTAGGAGTCCCAGGGACAGCAGCCTCTGCTCAGGGCAGACTCTGTGATTCACTGTCTGTCCTGCTGCTACCCCACGTGGGGGAGAACACGTGGGCTGAGAAAAAAAAACAGCATGTGCAAACCTGACAGATGTCAAGGGTCCCAACACAGTTCCTTCAGCGAAAATAAAGCCCAGTTTTAAGATGTGCAGGGAAGTGTTGACACTG... |
Task1_train_28540 | The gene LSS (lanosterol synthase), on Chromosome 21, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Alopecia-intellectual disability syndrome 4 | CCTAATAGGGCAGCACAGACGGGATGTTGCGGGTGCATCTGTATGTATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAG... | CCTAATAGGGCAGCACAGACGGGATGTTGCGGGTGCATCTGTATGTATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAG... |
Task1_train_28541 | Given this context: Chromosome 21, gene LSS (lanosterol synthase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cataract 44 | ATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCA... | ATGTGTACATGTGTGCATAGACCTGTATGTACATCTGTCTCCATGTACGTATGTCTGTGTGGCACAGATGCGATACTGCGGGTGCATCTGCATATGTGTGCACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTGCATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCATCTGCATGTGTGTACACAGGTGCCTGTGCATGTGTACATGTGTGCATAGACCTGTGTGTACATCTGTCTCCATGTACGTATGTCTGTGTGTGGCACAGATGGGATACTGCGGGTGCA... |
Task1_train_28542 | This mutation is located in gene LSS (lanosterol synthase) on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cataract 44 | GTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCAGTGTGTGGCACAGATGGGATGCTGTGGGTGCATCTGTATGTGTGTGGACACAGGTGCCTGTGTGGGCATGCGTACGTGTGTGCATAGGCCTGTGTGTGCATCTGTCTCCATGTACATCTGTGT... | GTACACAGGTGCCTGTGCATGCGTATGTATGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTGTGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACACAGGTGCCTGTGCATGCATACGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTATGTCAGTGTGTGGCACAGATGGGATGCTGTGGGTGCATCTGTATGTGTGTGGACACAGGTGCCTGTGTGGGCATGCGTACGTGTGTGCATAGGCCTGTGTGTGCATCTGTCTCCATGTACATCTGTGT... |
Task1_train_28543 | This gene mutation involves LSS (lanosterol synthase) on Chromosome 21. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hypotrichosis 14 | ACCTCAGCTTCTGGCTGCCTCTCTCACCTCAGTGAGAAGGGAAGAGGCCTGGAGTGCCGTAGGGTTCAGTCAGCCTCCCCAAGTCCCCATCACCCAGAGCAAGTCCTGGGCAGGAGGCAGGAGCAGGAGCAGGCCACCATTGGGCCAGGCACAGCAGGACAATGCCCCTCCTCTGCTTGAGCCCAAGATGGGTGCCAGCCTTGGCCACACAGAGGCCAGGAAGACCCAGAAGCCCTGCAGAACAATGTCCTAGTGAGAGCTGAAGGGAGGGAGACGGGGCTGGGGGGCAGCGGTTCCAGGCAGAGGGACACTGGCTGAGG... | ACCTCAGCTTCTGGCTGCCTCTCTCACCTCAGTGAGAAGGGAAGAGGCCTGGAGTGCCGTAGGGTTCAGTCAGCCTCCCCAAGTCCCCATCACCCAGAGCAAGTCCTGGGCAGGAGGCAGGAGCAGGAGCAGGCCACCATTGGGCCAGGCACAGCAGGACAATGCCCCTCCTCTGCTTGAGCCCAAGATGGGTGCCAGCCTTGGCCACACAGAGGCCAGGAAGACCCAGAAGCCCTGCAGAACAATGTCCTAGTGAGAGCTGAAGGGAGGGAGACGGGGCTGGGGGGCAGCGGTTCCAGGCAGAGGGACACTGGCTGAGG... |
Task1_train_28544 | Given this context: Chromosome 21, gene LSS (lanosterol synthase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cataract 44 | GATCTGCAATGTGAAGCCCTTCAGGAACAAACCTTCCAGGAGGAGAAAAGAGACCACGAGAGACGGCTGGACTAACAGGAGCTCAAAGACCAACAACTGAAGGCCTGTGCAGGCCTGGCCTGAATCCTGATTCACAAACACCAGCCACAACGTGAGGACTACACTCAGGAACCGTCATAAGTTTGTTGGGTGTGACAACCTCAGAGCAATTTTGTCAAAACACAGACGCCCTCATCAGCTTGAGGTGCACTGATGAGTCGGTGCTGAGGGAGCGCTGGGCAGGGAGGGGCAGGGAGGGGACAGGGAGGGGCAGGGAGGCC... | GATCTGCAATGTGAAGCCCTTCAGGAACAAACCTTCCAGGAGGAGAAAAGAGACCACGAGAGACGGCTGGACTAACAGGAGCTCAAAGACCAACAACTGAAGGCCTGTGCAGGCCTGGCCTGAATCCTGATTCACAAACACCAGCCACAACGTGAGGACTACACTCAGGAACCGTCATAAGTTTGTTGGGTGTGACAACCTCAGAGCAATTTTGTCAAAACACAGACGCCCTCATCAGCTTGAGGTGCACTGATGAGTCGGTGCTGAGGGAGCGCTGGGCAGGGAGGGGCAGGGAGGGGACAGGGAGGGGCAGGGAGGCC... |
Task1_train_28545 | Here is a mutation in LSS (lanosterol synthase) on Chromosome 21. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Alopecia-intellectual disability syndrome 4 | GTACAGATGTGCTCTATATGGGATTAAACCAAAACCCACAAAGAACCACATCACTGCTGAGCAAAAAACAAGGGACCCGCTGCAGGGTCAGTCAGGATTTGTGATCCACTGAGGTGGCATGAGGCCCAGAAAATCCGAGATGCAGTGTCAGGGTGGGACTCAGTGGCCCAGTGCCACCTGGGTATGTCCAGAGAATGCCTAAGCCAACCCACTACACCGCAGCAGCTACGCGCACAGCTATGGCAGCAGCTGCAGCACAGCCCAGGGCCTGCTGACTCTGTCAGGAGGCGGCCACGCACCAGCACAGCCCGGGAATTGCA... | GTACAGATGTGCTCTATATGGGATTAAACCAAAACCCACAAAGAACCACATCACTGCTGAGCAAAAAACAAGGGACCCGCTGCAGGGTCAGTCAGGATTTGTGATCCACTGAGGTGGCATGAGGCCCAGAAAATCCGAGATGCAGTGTCAGGGTGGGACTCAGTGGCCCAGTGCCACCTGGGTATGTCCAGAGAATGCCTAAGCCAACCCACTACACCGCAGCAGCTACGCGCACAGCTATGGCAGCAGCTGCAGCACAGCCCAGGGCCTGCTGACTCTGTCAGGAGGCGGCCACGCACCAGCACAGCCCGGGAATTGCA... |
Task1_train_28546 | The gene LSS (lanosterol synthase) on Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypotrichosis 14 | CACAAAGAACCACATCACTGCTGAGCAAAAAACAAGGGACCCGCTGCAGGGTCAGTCAGGATTTGTGATCCACTGAGGTGGCATGAGGCCCAGAAAATCCGAGATGCAGTGTCAGGGTGGGACTCAGTGGCCCAGTGCCACCTGGGTATGTCCAGAGAATGCCTAAGCCAACCCACTACACCGCAGCAGCTACGCGCACAGCTATGGCAGCAGCTGCAGCACAGCCCAGGGCCTGCTGACTCTGTCAGGAGGCGGCCACGCACCAGCACAGCCCGGGAATTGCACCCTCTAAGGTCACTGAACTGGCCACACCTGGACCC... | CACAAAGAACCACATCACTGCTGAGCAAAAAACAAGGGACCCGCTGCAGGGTCAGTCAGGATTTGTGATCCACTGAGGTGGCATGAGGCCCAGAAAATCCGAGATGCAGTGTCAGGGTGGGACTCAGTGGCCCAGTGCCACCTGGGTATGTCCAGAGAATGCCTAAGCCAACCCACTACACCGCAGCAGCTACGCGCACAGCTATGGCAGCAGCTGCAGCACAGCCCAGGGCCTGCTGACTCTGTCAGGAGGCGGCCACGCACCAGCACAGCCCGGGAATTGCACCCTCTAAGGTCACTGAACTGGCCACACCTGGACCC... |
Task1_train_28547 | Given this variant in gene LSS (lanosterol synthase) on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Alopecia-intellectual disability syndrome 4 | CAGTCAGGCCCACCCGCAGTTATCCGGAGGCCTAACCATCTCCCTGTGATGCTGTGCTTCAGTGGTCACGCTCCTAGTCCACTTTCATGTTCCACCCTGTACACCTGGCTCTGCCTTTTAGATAACAGTAGCAAAATTAGTGAAAGTACTAAAAGTCTCTGATATGCAGAAATAATGGCATAAGCTGTCTCTCTCTCTCTCTCTCCCACTCTCTGCCTCGGCTGCCAGGCAGGGAAGAGCCCACTGTCCAGTGGACACGTGACCCATGTGACCTTACCTATCATTGGAGATGGCTCACACTCCTTACCCTGCCCCTTTGT... | CAGTCAGGCCCACCCGCAGTTATCCGGAGGCCTAACCATCTCCCTGTGATGCTGTGCTTCAGTGGTCACGCTCCTAGTCCACTTTCATGTTCCACCCTGTACACCTGGCTCTGCCTTTTAGATAACAGTAGCAAAATTAGTGAAAGTACTAAAAGTCTCTGATATGCAGAAATAATGGCATAAGCTGTCTCTCTCTCTCTCTCTCCCACTCTCTGCCTCGGCTGCCAGGCAGGGAAGAGCCCACTGTCCAGTGGACACGTGACCCATGTGACCTTACCTATCATTGGAGATGGCTCACACTCCTTACCCTGCCCCTTTGT... |
Task1_train_28548 | Here is a genetic alteration in LSS (lanosterol synthase) on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Alopecia-intellectual disability syndrome 4 | GAGATGGGGATCCCAGTGCTCCTCCTGCTAGTCTGGTTACCTGGAATAAATGTGCCTCAGCTTTCTAATGTATCTCATTAGGCTTATTCTAAGGACTAAAAGAAGAACAGGCCTTGAGCAGGGCTTGGCCTACAGTAAACACCATGGAACTGTTTTTAACGTTAAAGGCCAACTCTTCCCAAACTAACATATAAGCCTATTGCAACTTCATTTCAAGTCTGGGACAAAATCAGGATAAAGGCAATTTGGATGAGTAAATGAATAGACACAGGTAAGAGATGTTTTAAAAAGAAAGGCAACAAAGGTATATAAGGACTTTC... | GAGATGGGGATCCCAGTGCTCCTCCTGCTAGTCTGGTTACCTGGAATAAATGTGCCTCAGCTTTCTAATGTATCTCATTAGGCTTATTCTAAGGACTAAAAGAAGAACAGGCCTTGAGCAGGGCTTGGCCTACAGTAAACACCATGGAACTGTTTTTAACGTTAAAGGCCAACTCTTCCCAAACTAACATATAAGCCTATTGCAACTTCATTTCAAGTCTGGGACAAAATCAGGATAAAGGCAATTTGGATGAGTAAATGAATAGACACAGGTAAGAGATGTTTTAAAAAGAAAGGCAACAAAGGTATATAAGGACTTTC... |
Task1_train_28549 | This sequence variant lies in MCM3AP (minichromosome maintenance complex component 3 associated protein) on Chromosome 21. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | GAGGACTGGGTGCAGCTCCCCGCAGCACGTAGCAGGAGGGGAGCACGAGATGCCACTCACCCCAGGGCGGCAGCTGCGTAGGCAGCACCCGCAGAGCCAACTTCCTCACAGTCCCTCTGCAGGGCCTCCTGGATGAGCTCGTCCACCACCTGCGCCAGGTCCTGTGGAGAGACCAGCATGGGGTGTAATGGAACGTCCCACCCAGGGCAGAAATGCTGGGTAACATGTTGTCACCGGACAGTCTGCAGGCGTCTCGTGACAGAAGCACAACCCCTGACACGGGGTCGGCTAGGCTGTTGCAGGAAAGGTGTCCCCTAGCG... | GAGGACTGGGTGCAGCTCCCCGCAGCACGTAGCAGGAGGGGAGCACGAGATGCCACTCACCCCAGGGCGGCAGCTGCGTAGGCAGCACCCGCAGAGCCAACTTCCTCACAGTCCCTCTGCAGGGCCTCCTGGATGAGCTCGTCCACCACCTGCGCCAGGTCCTGTGGAGAGACCAGCATGGGGTGTAATGGAACGTCCCACCCAGGGCAGAAATGCTGGGTAACATGTTGTCACCGGACAGTCTGCAGGCGTCTCGTGACAGAAGCACAACCCCTGACACGGGGTCGGCTAGGCTGTTGCAGGAAAGGTGTCCCCTAGCG... |
Task1_train_28550 | Assess the clinical impact of this variant on gene MCM3AP (minichromosome maintenance complex component 3 associated protein), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | CCACCCAGGCCACACCCACCAGGCGGACACGCCACCCCAGGTCACACCCATCAGGGGGCGCACAATGCTGCCAATGATCCCGTCAGGAATAGACGGGTGTTGAGTTCAGACACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGAC... | CCACCCAGGCCACACCCACCAGGCGGACACGCCACCCCAGGTCACACCCATCAGGGGGCGCACAATGCTGCCAATGATCCCGTCAGGAATAGACGGGTGTTGAGTTCAGACACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGAC... |
Task1_train_28551 | A mutation found in MCM3AP (minichromosome maintenance complex component 3 associated protein) on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | CACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCA... | CACACGGGCTCAGGCCGGTGCTGTGACAGGAAGCTCCTGAGATGAAGACGGACTCCAGAATGAGCCTGAATAGGTGGGCCCTACCTGAGGCTGAGTGACTCTAGGCAGGACCCCTCTCTGGACTCTCCTGAGAGACCAGGCGCCACAGCCCCACCTCATGGGGTGATGACTAAGGACGTTTGCGCACAATGGGCTTCCCAGAGTCCAGACCTAGAAAAAAAGAGTCCCTACCTCGTCAGAGTACATGGGCACGGGCTCTGGAGGCGGTGGTTCAGGCTGCACAGACAGCTGGAAGAGGCTGGGCGCCACAGACGGGGTCA... |
Task1_train_28552 | A mutation in MCM3AP (minichromosome maintenance complex component 3 associated protein), located on Chromosome 21, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | TTAATGCTGAGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCG... | TTAATGCTGAGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCG... |
Task1_train_28553 | A change on Chromosome 21 affects gene MCM3AP (minichromosome maintenance complex component 3 associated protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | AGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCGCCACTGCCG... | AGAGTACAACAGTGAACAAAAACACAATCCCTGTCCCCACATAGCTGACATGCCAGGGGAGAGACCAATGCCACAGAAAACAAACACATCAAACACACAGAATGGTGATTTAGTGCGGCAGATGGGCAGGGAGAGCAGGGAGCGCTGGTGGGGGCCCTGCTGAGGGCGGCAGCCAAGCCTCGCCTGGCCTCAGGGAGGTGGAGACAGCGCCGTGCGGCTCTGCGAGTGTGGAACAGCAGTGGAAACAGCAAGCACAAAGCCTCTGAGCAGGAGTGCACAGGGCTGCGGGGACAGGAGGCTGCCTCTGTGCGCCACTGCCG... |
Task1_train_28554 | A sequence alteration has been identified in PCNT (pericentrin) on Chromosome 21. Is it disease-inducing or harmless? | Pathogenic; Microcephalic osteodysplastic primordial dwarfism type II | GGGCACAGCGGCCAGTGGGGCGGTCTGTGCTCTTAACTCGAGGGGTGCAGAGGTGGGTGGTGGGCGGGGTAGTCCCAGGCTCTAAACACAAGGGGTGCAGAGGTGAGCCCACGGTCCCTGGACACTGGAGAGGCTGCCTGTCTTGAGGTGGGGTGGCTGCAGACGCCCTGATGCCTGCAGGAGTTGGGCATTTTGGGGGGTGGAAGTGTGCTGGGGAGCAGGTGGCATTCTCTCCGTCAAGCCCCTCCTCAGGACTCCCCCTCCCTGTTATTTGCCCAGAATCTTCGGTTTCGCGGGGCCTGCACGACACTGCCTCCCGT... | GGGCACAGCGGCCAGTGGGGCGGTCTGTGCTCTTAACTCGAGGGGTGCAGAGGTGGGTGGTGGGCGGGGTAGTCCCAGGCTCTAAACACAAGGGGTGCAGAGGTGAGCCCACGGTCCCTGGACACTGGAGAGGCTGCCTGTCTTGAGGTGGGGTGGCTGCAGACGCCCTGATGCCTGCAGGAGTTGGGCATTTTGGGGGGTGGAAGTGTGCTGGGGAGCAGGTGGCATTCTCTCCGTCAAGCCCCTCCTCAGGACTCCCCCTCCCTGTTATTTGCCCAGAATCTTCGGTTTCGCGGGGCCTGCACGACACTGCCTCCCGT... |
Task1_train_28555 | Here is a mutation in IL17RA (interleukin 17 receptor A) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Immunodeficiency 51 | TGAGGGTCAGCATCGGGTGATAGAGAAGGCTCCGGCTGCCCTGAGCCACAGGGGTGGACCCCAGCCCCACCTCATTAGCCTTGTAGTCACAGGCCAGTTACTTAATACACCATGGATTCACTTTTCTGTAAAATGTACTGATAATGCCTCCCTCTAAGGGTGTGACGAAGGTTAAATGAGTAGCTGAGGAAGGTGCTTGCTGGTGGGGATTAGTACATACCAGTGTCTTCTCCCACCTGCAGCCCTCTGCTGGCCAAGTCCTAAGCCGGGAGAACACAGGCCTTCCGGTTGGGGCTTCAGCCCTTGCCTGCCCCACCATG... | TGAGGGTCAGCATCGGGTGATAGAGAAGGCTCCGGCTGCCCTGAGCCACAGGGGTGGACCCCAGCCCCACCTCATTAGCCTTGTAGTCACAGGCCAGTTACTTAATACACCATGGATTCACTTTTCTGTAAAATGTACTGATAATGCCTCCCTCTAAGGGTGTGACGAAGGTTAAATGAGTAGCTGAGGAAGGTGCTTGCTGGTGGGGATTAGTACATACCAGTGTCTTCTCCCACCTGCAGCCCTCTGCTGGCCAAGTCCTAAGCCGGGAGAACACAGGCCTTCCGGTTGGGGCTTCAGCCCTTGCCTGCCCCACCATG... |
Task1_train_28556 | A variant was discovered on Chromosome 22, affecting ADA2 (adenosine deaminase 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GAGGATCACTTGAGTTGGAGACCAGCCTGGGCAACATAGCAAGACACTCTTTAGAAAAATTAAAGTAGAGAAAAAGAAAGGTTTAAAGGGAAGAGACTGAGGGTTCAGAATTGTACCTCATCAGTTTCTGAGATTCCTGTGAGCTCTCCAAGTGCATAAATAAATGTGGGAATCATTAACAAATAAATGGTATGAAAAAGCAAAGGAATGGATGAGACCACCCAGGAAAAGTGTACAGAGAGAGAAGAGAAATAAAGAGGAGAGAGTTAAAGAGACCAGAATAGGCCAGGCATGGTGGCTAATGCCTGTAATTCCAGCAC... | GAGGATCACTTGAGTTGGAGACCAGCCTGGGCAACATAGCAAGACACTCTTTAGAAAAATTAAAGTAGAGAAAAAGAAAGGTTTAAAGGGAAGAGACTGAGGGTTCAGAATTGTACCTCATCAGTTTCTGAGATTCCTGTGAGCTCTCCAAGTGCATAAATAAATGTGGGAATCATTAACAAATAAATGGTATGAAAAAGCAAAGGAATGGATGAGACCACCCAGGAAAAGTGTACAGAGAGAGAAGAGAAATAAAGAGGAGAGAGTTAAAGAGACCAGAATAGGCCAGGCATGGTGGCTAATGCCTGTAATTCCAGCAC... |
Task1_train_28557 | Given this context: Chromosome 22, gene ADA2 (adenosine deaminase 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Vasculitis due to ADA2 deficiency | ACAGGCATCAAAATATCACATGAGGCCGGGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATTGTTTGAGGTTGGGAGTTCAAGACCAGCCTGGGCCAACATGGTGAAACCCTATCCCTATTAAAAATACAAAAATTAGCCGGGTGTGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGCAGCCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGATACAGTAAGACTCTGTCTCAAAAGAATTTTTTTCCGTGGCTCAAGCCTGTA... | ACAGGCATCAAAATATCACATGAGGCCGGGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATTGTTTGAGGTTGGGAGTTCAAGACCAGCCTGGGCCAACATGGTGAAACCCTATCCCTATTAAAAATACAAAAATTAGCCGGGTGTGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGCAGCCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGATACAGTAAGACTCTGTCTCAAAAGAATTTTTTTCCGTGGCTCAAGCCTGTA... |
Task1_train_28558 | A variant found in Chromosome 22 affects ADA2 (adenosine deaminase 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; See cases | ACAGGCATCAAAATATCACATGAGGCCGGGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATTGTTTGAGGTTGGGAGTTCAAGACCAGCCTGGGCCAACATGGTGAAACCCTATCCCTATTAAAAATACAAAAATTAGCCGGGTGTGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGCAGCCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGATACAGTAAGACTCTGTCTCAAAAGAATTTTTTTCCGTGGCTCAAGCCTGTA... | ACAGGCATCAAAATATCACATGAGGCCGGGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATTGTTTGAGGTTGGGAGTTCAAGACCAGCCTGGGCCAACATGGTGAAACCCTATCCCTATTAAAAATACAAAAATTAGCCGGGTGTGTTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCACGAGAATCACTTGAACCTGGCAGCCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGATACAGTAAGACTCTGTCTCAAAAGAATTTTTTTCCGTGGCTCAAGCCTGTA... |
Task1_train_28559 | Given a variant located on Chromosome 22 and affecting ADA2 (adenosine deaminase 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Vasculitis due to ADA2 deficiency | CCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGA... | CCCTTCTCCAGTGACAGCCGTCCCCTGTAGGCCTCTGAAGAGGGTCAGCGCTGAGCTCTGAGCAGCCCTGCTGTGTCAGCAGCCTGAGCCTGCCCTGGGATGTCAGGGTACCAACAGGCACATTGCGCTCCCTTCCCAGGGAGTTGCCGCTCCACCCAGACAGGCATCCTCGCATGCCCCCTTAACAGGCAGCCCTTCTGTTCACAGCATGGGTTACCAGGTCAAACCCTGCCACCACCGTGGGGAACTTGATTCGGAGCCCCATGGCCATTCGGATGGATTCTGCGATGACAGCCACATCTTTGGATCTGTGAGACAGA... |
Task1_train_28560 | A variant was discovered on Chromosome 22, affecting ADA2 (adenosine deaminase 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Sneddon syndrome | GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCT... | GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCT... |
Task1_train_28561 | Given this context: Chromosome 22, gene ADA2 (adenosine deaminase 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Vasculitis due to ADA2 deficiency | GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCT... | GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCT... |
Task1_train_28562 | The variant affects gene ADA2 (adenosine deaminase 2), which is on Chromosome 22. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Vasculitis due to ADA2 deficiency | GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCT... | GCAGACTCTCTTGGATACAATGTGGAGAAGACTCTACCAAAGGTCACTTTCCCCAAGCCACTGATAACCTTTAACCAGCTCAAACCCGTCTGAGCTCACCACATAAAACACCCAAGGATCCTGCCCACTCCCACAATACCCCATCTCCCTCAGCCCAACAAAAACATCCTCAGGAAAGTTCTCTCCAATAAACTCACTGAAATAAAACTCTAGCAGTATTTGAGCACCTAGGGCTGCTCTCCTCGAAAGATCCCTCCCCTACCAACACGGAGCCTGGTGTCAGTCCATCTCAGAGTACCTAACCTCAGTTATCCTTTGCT... |
Task1_train_28563 | This sequence variant lies in ADA2 (adenosine deaminase 2) on Chromosome 22. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Vasculitis due to ADA2 deficiency | CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTG... | CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTG... |
Task1_train_28564 | This gene mutation involves ADA2 (adenosine deaminase 2) on Chromosome 22. Is it associated with any clinical condition, or is it benign? | Pathogenic; Vasculitis due to ADA2 deficiency | CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTG... | CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTG... |
Task1_train_28565 | This alteration in ADA2 (adenosine deaminase 2) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Sneddon syndrome | CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTG... | CAGGCTGGAGTGCAGTAGCATGATCTCAGCTCTCTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTTGGCCTCCCGAGTAGCTGGGATTACAGGTGGCTGCCAGCATGCACGGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCTGGCTGGTTTTGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTG... |
Task1_train_28566 | Here is a mutation in ADA2 (adenosine deaminase 2) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Vasculitis due to ADA2 deficiency | TGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGT... | TGAACTCCTGACCTCAAGTGATCCGCCCACCTCGGTCTCCCAAAGTGTTAGGATTACAAGCATGAGCCACCACACCCGGCCACCAGGCTGGTCTTGAACTCCTGGGTGCAAGTGATCCTCCCACCTCAGCCTCCCGAAGTGCTAGGATTACAGGCATGACCCAGTGTGCCCGGCTTGAGAAAATCAGTTCCTATTGTTTAAGCTCCCCAGCCTGTGGTATTCTGTTATGGCAGCTCGAGCAGGTTAATGAAGGGAGTGGAATGGAAATAACTCGAATCAGCACCCAGGTTTGTATCCCCAACTGGCCATTTACCAGCTGT... |
Task1_train_28567 | A variant affecting Chromosome 22, within the gene ADA2 (adenosine deaminase 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Sneddon syndrome | ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTT... | ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTT... |
Task1_train_28568 | The gene ADA2 (adenosine deaminase 2), on Chromosome 22, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Vasculitis due to ADA2 deficiency | ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTT... | ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTT... |
Task1_train_28569 | This sequence change occurs on Chromosome 22, altering ADA2 (adenosine deaminase 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Vasculitis due to ADA2 deficiency | ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTT... | ACAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTT... |
Task1_train_28570 | Given this variant in gene ADA2 (adenosine deaminase 2) on Chromosome 22, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Vasculitis due to ADA2 deficiency | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTG... | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTG... |
Task1_train_28571 | This alteration in ADA2 (adenosine deaminase 2) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; ADA2-related disorder | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTG... | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTG... |
Task1_train_28572 | Mutation context: Chromosome 22, Gene ADA2 (adenosine deaminase 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autoinflammatory syndrome | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTG... | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTG... |
Task1_train_28573 | This alteration in ADA2 (adenosine deaminase 2) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Sneddon syndrome | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTG... | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTG... |
Task1_train_28574 | A genomic change on Chromosome 22 affects ADA2 (adenosine deaminase 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Vasculitis due to ADA2 deficiency | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTG... | CAGTGTGGATCACAAGAAGACGTGCAAGCAGAAGGATTTCTGTCCAGACATGTTTCTCGGAACTTGTTTAAGGCTCTAGTTTAAGGATGGGGCTTCCATGTCTCACTAATCAGGAGCCAGGGGTGATCTTGTCCAAGAGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTG... |
Task1_train_28575 | Gene ADA2 (adenosine deaminase 2) on Chromosome 22 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Vasculitis due to ADA2 deficiency | AGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACAC... | AGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACAC... |
Task1_train_28576 | This alteration in ADA2 (adenosine deaminase 2) on Chromosome 22 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Vasculitis due to ADA2 deficiency | AGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACAC... | AGGGGCAGCATGGGAGAGTGAGAGGGCATCAGGCTTGGAACCAGAGAACTGAGGTTCAAGTCAGGGCTCCATTGGCTTCTAGCTCTCCAATGGGAGCCCAGGCCTTTCAATGAGGCCACCCAACACTGCATGACGGGATACACTGGGATGAGCCCCAGGGCCACGGTCCTTTTCACACACTTGTCCTCCATCCTCTCATCCTGCCCCTCAACTCCTCTCCCACTGGCTTTTCATCCCCTGCGCTGGGCCTGTGTCTGTACAGCTTCTGGCCTGCAGGCTTTGCCAGTTGAATCCCCATGCTTGTCCTCCCCACCAGACAC... |
Task1_train_28577 | Here is a variant affecting ATP6V1E1 (ATPase H+ transporting V1 subunit E1) on Chromosome 22. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive cutis laxa type 2C | CTGCGAGAACAACAGGAACGGCTGCAAGTAGAATACACCACAGCTCTAGCCTTGTGTCTAAGAGTGCGTTTAAATGGTGAAAATACCATTTAAAAAAGGCCTGGTATAAAGGCCACTCTCCCAGGGAGAGAAGGTAGCTGTTAGCAGCAGGAATACTCCTTACATGTCTTCAGGCAGGTAGGACTCCTGGTCAATTTGGACATCAACATCGTTTTTGGTGGCAATTTTGTACATAGGAATTGCCTTCTGCACTGCAGCCTGGAAGTATAGAACACAATGAGAGGTGTCACTAGGAACTATGAAGCAAGTATCCAAAAACT... | CTGCGAGAACAACAGGAACGGCTGCAAGTAGAATACACCACAGCTCTAGCCTTGTGTCTAAGAGTGCGTTTAAATGGTGAAAATACCATTTAAAAAAGGCCTGGTATAAAGGCCACTCTCCCAGGGAGAGAAGGTAGCTGTTAGCAGCAGGAATACTCCTTACATGTCTTCAGGCAGGTAGGACTCCTGGTCAATTTGGACATCAACATCGTTTTTGGTGGCAATTTTGTACATAGGAATTGCCTTCTGCACTGCAGCCTGGAAGTATAGAACACAATGAGAGGTGTCACTAGGAACTATGAAGCAAGTATCCAAAAACT... |
Task1_train_28578 | Here is a mutation in PEX26 (peroxisomal biogenesis factor 26) on Chromosome 22. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Peroxisome biogenesis disorder 7A (Zellweger) | GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCC... | GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCC... |
Task1_train_28579 | The following genetic variant occurs in PEX26 (peroxisomal biogenesis factor 26) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Peroxisome biogenesis disorder 7A (Zellweger) | GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCC... | GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCC... |
Task1_train_28580 | Gene PEX26 (peroxisomal biogenesis factor 26) on Chromosome 22 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Peroxisome biogenesis disorder 7B | GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCC... | GGGCGGCTTCCGGGGCGCGGCGTGCTGGGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCC... |
Task1_train_28581 | Here’s a variant in PEX26 (peroxisomal biogenesis factor 26) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Peroxisome biogenesis disorder 7A (Zellweger) | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCC... | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCC... |
Task1_train_28582 | A variant was discovered in gene PEX26 (peroxisomal biogenesis factor 26), Chromosome 22. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Peroxisome biogenesis disorder 7B | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCC... | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCC... |
Task1_train_28583 | This alteration occurs within gene PEX26 (peroxisomal biogenesis factor 26) located on Chromosome 22. Is it associated with a disease or is it a benign variant? | Pathogenic; Peroxisome biogenesis disorder 7A (Zellweger) | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCC... | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCC... |
Task1_train_28584 | The following genetic variant occurs in PEX26 (peroxisomal biogenesis factor 26) on Chromosome 22. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Peroxisome biogenesis disorder 7B | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCC... | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCC... |
Task1_train_28585 | A genomic change on Chromosome 22 affects PEX26 (peroxisomal biogenesis factor 26). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Peroxisome biogenesis disorder | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCC... | GGGGTTGTAGTCCGCGCTCTGCCTCCTACTTCCATTACAGAAGGCGATGGGCCGAGAGCTGAGGAACTACAACTCCTAGAGTACTCCGCGCCGCCGGGACGCCGCGCGGCTGCGGGGCTGGGCGAGCGCAAAGATGTCCGCGCCCGCTGCCGGGAGGCGAGGTGAGTCTTTGATCGTAACCAGGAGCCCGGAGCTGAGGCAGTTCCTGCACGTGTCGCGGGGCCGGAGAAGCTAGGGCCAGGTATTCCAGGGATGCAAGAATCCTGCAAATCTGACGTGTAAACTGCTTCCCCAGCCTCCAGGCGAGCCCAGCTTTTGCC... |
Task1_train_28586 | This mutation is located in gene TUBA8 (tubulin alpha 8) on Chromosome 22. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Macrothrombocytopenia, isolated, 2, autosomal dominant | GGCCACACAGCACAGCAAGTAAATTGAGAAGGCAACATGGGAACCTGGGGCCGTGGGCAGCTCTGTGGGTGAATCCCCTCCCTAGCCACCAGGCTCACGGAGATCCAGCGGGTTGCGACCCCCGTCGGGCTGCCCCACGCTCACCCCTGTGCTCATCCTCCCTCAAGGCAAGGACCAGGTGTCGCTCAGCTGTAGCACAGAGACAGGACTAGAGTGGGGGCACAGTTGTAAAATTGAACTAGGGGGCAATGGTCCTGATGCTCTGACCCCGCAAGATGCTACTCAGGGCAGCTGCCCTGCTCTCCATGCCCAGAATTTCT... | GGCCACACAGCACAGCAAGTAAATTGAGAAGGCAACATGGGAACCTGGGGCCGTGGGCAGCTCTGTGGGTGAATCCCCTCCCTAGCCACCAGGCTCACGGAGATCCAGCGGGTTGCGACCCCCGTCGGGCTGCCCCACGCTCACCCCTGTGCTCATCCTCCCTCAAGGCAAGGACCAGGTGTCGCTCAGCTGTAGCACAGAGACAGGACTAGAGTGGGGGCACAGTTGTAAAATTGAACTAGGGGGCAATGGTCCTGATGCTCTGACCCCGCAAGATGCTACTCAGGGCAGCTGCCCTGCTCTCCATGCCCAGAATTTCT... |
Task1_train_28587 | Assess the clinical impact of this variant on gene TUBA8 (tubulin alpha 8), found on Chromosome 22. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | CCCCTGTGCTCATCCTCCCTCAAGGCAAGGACCAGGTGTCGCTCAGCTGTAGCACAGAGACAGGACTAGAGTGGGGGCACAGTTGTAAAATTGAACTAGGGGGCAATGGTCCTGATGCTCTGACCCCGCAAGATGCTACTCAGGGCAGCTGCCCTGCTCTCCATGCCCAGAATTTCTTCCACGTCTCCAGGAGCCCCACACTTTGACGTGGACTCTACTGGCTTCTGTGCCCAGCCGTGCCCTCTGGAGGCTCTGCCCCTGGCTTGGGTTACCCGGAGCTGGAAAATGCCAGGGCAGGTCATGGGTAAAAATAGAAACCC... | CCCCTGTGCTCATCCTCCCTCAAGGCAAGGACCAGGTGTCGCTCAGCTGTAGCACAGAGACAGGACTAGAGTGGGGGCACAGTTGTAAAATTGAACTAGGGGGCAATGGTCCTGATGCTCTGACCCCGCAAGATGCTACTCAGGGCAGCTGCCCTGCTCTCCATGCCCAGAATTTCTTCCACGTCTCCAGGAGCCCCACACTTTGACGTGGACTCTACTGGCTTCTGTGCCCAGCCGTGCCCTCTGGAGGCTCTGCCCCTGGCTTGGGTTACCCGGAGCTGGAAAATGCCAGGGCAGGTCATGGGTAAAAATAGAAACCC... |
Task1_train_28588 | Chromosome 22 houses a mutation in gene TUBA8 (tubulin alpha 8). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CTGGGTCACACAGCTAAAAAGTGGCAGAGCTGGGGTTTGAACTCAGTTGGACTACAAAGCTCTTGAGTTGTAGGTTGTGTCACTTTATTTATTTAAGCTTCCATTTGCTTATCTGTATAATGGAAAAGCTTGGACCTGATCACATGTTCTTTCCCTGGGAGGTAAGGGTGCCAAACTTTTGCATATATTCACTTTTTCTGTTTAGAGGAGGGCTTGTCAGGGTCATTGGCCTCAAAGCTGTCTGTGGTCCCCAAAAGTTCAAATCACACCCAGTGGGAAAATCCTGTGATTCTATGAATTCTCTGGTGAGAGCTGACATC... | CTGGGTCACACAGCTAAAAAGTGGCAGAGCTGGGGTTTGAACTCAGTTGGACTACAAAGCTCTTGAGTTGTAGGTTGTGTCACTTTATTTATTTAAGCTTCCATTTGCTTATCTGTATAATGGAAAAGCTTGGACCTGATCACATGTTCTTTCCCTGGGAGGTAAGGGTGCCAAACTTTTGCATATATTCACTTTTTCTGTTTAGAGGAGGGCTTGTCAGGGTCATTGGCCTCAAAGCTGTCTGTGGTCCCCAAAAGTTCAAATCACACCCAGTGGGAAAATCCTGTGATTCTATGAATTCTCTGGTGAGAGCTGACATC... |
Task1_train_28589 | The gene PRODH (proline dehydrogenase 1) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Proline dehydrogenase deficiency | TGGTCGCCCCGTGGGCTCACTGCCTGGCACCTTTGGGCCGGGATGAAAGGGGCCTGGGGGTCACTCTGGCCTTCATGGGGCCCCTCTGTATCCCAGGAGCTGATGCTGCAGATGAACCTGCTGGAACTCATCCGGAAGCTGCAGCAGAGGGGCTGCTGGGCAGGGAAGGCAGCCCTGGGGCTAGGAGGTCCCTGGCAGTTGCCTGCTGCCCAGTGTGACCAGAAAGGCAGCCCTGTCCCACCATAGCCACAGGCAGCAGAAGTCTGGGCAGAGTTCATCTTCTTGACCTTTGGCCACTGCCTTCCCAGCTGCCCGCAGGG... | TGGTCGCCCCGTGGGCTCACTGCCTGGCACCTTTGGGCCGGGATGAAAGGGGCCTGGGGGTCACTCTGGCCTTCATGGGGCCCCTCTGTATCCCAGGAGCTGATGCTGCAGATGAACCTGCTGGAACTCATCCGGAAGCTGCAGCAGAGGGGCTGCTGGGCAGGGAAGGCAGCCCTGGGGCTAGGAGGTCCCTGGCAGTTGCCTGCTGCCCAGTGTGACCAGAAAGGCAGCCCTGTCCCACCATAGCCACAGGCAGCAGAAGTCTGGGCAGAGTTCATCTTCTTGACCTTTGGCCACTGCCTTCCCAGCTGCCCGCAGGG... |
Task1_train_28590 | The gene SLC25A1 (solute carrier family 25 member 1) on Chromosome 22 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | AGGCCCCAGAGAGCTGAGTGCCCCTCCAGGTTTCATGGCTGGCACTGTGGACCAGTGTGGCCCACTGCCTGCTTGCCACCCCACAACAAAGCTTCAGAGGTGCAGAACCAGTGGCCTGAGCTCCAGGGACAGGAAGCATCTTGGCGTGGGGTTCTCATGGTGGCACTTGCATGCCCTAGTGCACAGGGGCGGAAGGGGAAGCTCTGTTGCCTGGGCCCTTTCTCTGTGGCAACAGATGGGGAAGTCTGCCGTGAGGATAGAGAGTGCATGGCCATCCCATCACAGCACAGGTTGAGTGCTGAGCCACCCCGAGCCCTCCC... | AGGCCCCAGAGAGCTGAGTGCCCCTCCAGGTTTCATGGCTGGCACTGTGGACCAGTGTGGCCCACTGCCTGCTTGCCACCCCACAACAAAGCTTCAGAGGTGCAGAACCAGTGGCCTGAGCTCCAGGGACAGGAAGCATCTTGGCGTGGGGTTCTCATGGTGGCACTTGCATGCCCTAGTGCACAGGGGCGGAAGGGGAAGCTCTGTTGCCTGGGCCCTTTCTCTGTGGCAACAGATGGGGAAGTCTGCCGTGAGGATAGAGAGTGCATGGCCATCCCATCACAGCACAGGTTGAGTGCTGAGCCACCCCGAGCCCTCCC... |
Task1_train_28591 | The gene SLC25A1 (solute carrier family 25 member 1) on Chromosome 22 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Myasthenic syndrome, congenital, 23, presynaptic | CCTTTGTACCCCCAAGCCCATGCTTGGCTCTCAGATCCACCTCGGGCCCTTTGCACCCCAGACTCCTCCCCAGCTGCACATTCCCGGGATTCCAGGCATCTGGTGCTGTGTGAGGTCACTAGGACAGGGCAGTCTCCCCAGGGACGGGACCTGTTCACATGGAGTTTCTGGCTGGCAAAAGCTTGTTCTCCAGTCTGAGCCAAACGCTTGCATGACTCTTCCCCCACGGAGGCACTTGGACAGGAAGCTGGCTTCTCTGCACAGCCAGGGGCACTAAGTGATCCCATCCTGCCTGAGCGTCCTCCACGTGGCTCATAGGC... | CCTTTGTACCCCCAAGCCCATGCTTGGCTCTCAGATCCACCTCGGGCCCTTTGCACCCCAGACTCCTCCCCAGCTGCACATTCCCGGGATTCCAGGCATCTGGTGCTGTGTGAGGTCACTAGGACAGGGCAGTCTCCCCAGGGACGGGACCTGTTCACATGGAGTTTCTGGCTGGCAAAAGCTTGTTCTCCAGTCTGAGCCAAACGCTTGCATGACTCTTCCCCCACGGAGGCACTTGGACAGGAAGCTGGCTTCTCTGCACAGCCAGGGGCACTAAGTGATCCCATCCTGCCTGAGCGTCCTCCACGTGGCTCATAGGC... |
Task1_train_28592 | This genomic variant is located on Chromosome 22, within the GP1BB, SEPT5-GP1BB (glycoprotein Ib platelet subunit beta| SEPT5-GP1BB readthrough) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | AGGAGAGATAGTTGATGGTGATGCTGGAGGGGTGCCCCGGGAGTTACATGCCCGTTTCCCATCAGTAACCGTGCAATTACGCTCACCGGGTGTGAGCCTTTCTCCCTCCTTCCCCCAGGAGAGCGCGCCCTTCGCCGTTATAGGCAGCAACACGGTGGTGGAGGCCAAGGGGCAGCGGGTCCGGGGCCGACTGTACCCCTGGGGGATCGTGGAGGGTGAGTAGAGTCTTGGGGTACCAGGTCTGGTGGGGGAAGGCTGTCCTGGGCCGGCGCCAGCCCACTACCCACCCCCACCCCGCAGTGGAGAACCAGGCGCATTGC... | AGGAGAGATAGTTGATGGTGATGCTGGAGGGGTGCCCCGGGAGTTACATGCCCGTTTCCCATCAGTAACCGTGCAATTACGCTCACCGGGTGTGAGCCTTTCTCCCTCCTTCCCCCAGGAGAGCGCGCCCTTCGCCGTTATAGGCAGCAACACGGTGGTGGAGGCCAAGGGGCAGCGGGTCCGGGGCCGACTGTACCCCTGGGGGATCGTGGAGGGTGAGTAGAGTCTTGGGGTACCAGGTCTGGTGGGGGAAGGCTGTCCTGGGCCGGCGCCAGCCCACTACCCACCCCCACCCCGCAGTGGAGAACCAGGCGCATTGC... |
Task1_train_28593 | This sequence variant lies in GP1BB, SEPT5-GP1BB (glycoprotein Ib platelet subunit beta| SEPT5-GP1BB readthrough) on Chromosome 22. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Bernard Soulier syndrome | AGGAGAGATAGTTGATGGTGATGCTGGAGGGGTGCCCCGGGAGTTACATGCCCGTTTCCCATCAGTAACCGTGCAATTACGCTCACCGGGTGTGAGCCTTTCTCCCTCCTTCCCCCAGGAGAGCGCGCCCTTCGCCGTTATAGGCAGCAACACGGTGGTGGAGGCCAAGGGGCAGCGGGTCCGGGGCCGACTGTACCCCTGGGGGATCGTGGAGGGTGAGTAGAGTCTTGGGGTACCAGGTCTGGTGGGGGAAGGCTGTCCTGGGCCGGCGCCAGCCCACTACCCACCCCCACCCCGCAGTGGAGAACCAGGCGCATTGC... | AGGAGAGATAGTTGATGGTGATGCTGGAGGGGTGCCCCGGGAGTTACATGCCCGTTTCCCATCAGTAACCGTGCAATTACGCTCACCGGGTGTGAGCCTTTCTCCCTCCTTCCCCCAGGAGAGCGCGCCCTTCGCCGTTATAGGCAGCAACACGGTGGTGGAGGCCAAGGGGCAGCGGGTCCGGGGCCGACTGTACCCCTGGGGGATCGTGGAGGGTGAGTAGAGTCTTGGGGTACCAGGTCTGGTGGGGGAAGGCTGTCCTGGGCCGGCGCCAGCCCACTACCCACCCCCACCCCGCAGTGGAGAACCAGGCGCATTGC... |
Task1_train_28594 | Chromosome 22 houses a mutation in gene GP1BB, SEPT5-GP1BB (glycoprotein Ib platelet subunit beta| SEPT5-GP1BB readthrough). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bernard Soulier syndrome | GAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGC... | GAGGGCAGGGCCTCAGCAGTGGCGGGGATGGGCCAGGCATCGCCAGCCCACGCTGAGCCTCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGC... |
Task1_train_28595 | Here’s a variant in GP1BB, SEPT5-GP1BB (glycoprotein Ib platelet subunit beta| SEPT5-GP1BB readthrough) located on Chromosome 22. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Macrothrombocytopenia, familial, Bernard-Soulier type | TCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCT... | TCCCGGTGGCGCCGCCCCGCCCATCCTCCCCCCCGCCCCGCGCAGCAAACTGACCCAGGACAGCCGCATGGAGAGCCCCATCCCGATCCTGCCGCTGCCCACCCCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCT... |
Task1_train_28596 | The gene GP1BB, SEPT5-GP1BB (glycoprotein Ib platelet subunit beta| SEPT5-GP1BB readthrough) is located on Chromosome 22, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Bernard Soulier syndrome | CCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCC... | CCGGACGCCGAGACTGAGAAGCTTATCAGGATGAAGGATGAGGAAGTATGTGGGGCGGCGGGGGCGGCGGAGGCGGGCGTCAGGGATGCTCCTCCGCGGTGCTGCTCACCCGCCGGGTTGTCTCCGCCCGCAGCTGAGGCGCATGCAGGAGATGCTGCAGAGGATGAAGCAGCAGATGCAGGACCAGTGACGCTCGCCGCGGACACACCGTCCGTCTCCGGGACGCCCTCGCACCCCTGGACACCAGACCGGACTGTTCCCGACCCGGAGACGCGGGGCCACAGCCCCCAGCTGACCCTAATTTATTCTCAGCACCACCC... |
Task1_train_28597 | A mutation on Chromosome 22 affecting TBX1 (T-box transcription factor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Conotruncal anomaly face syndrome | CTGTGGGACGAGTTCAACCAGCTGGGCACCGAGATGATCGTCACCAAGGCCGGCAGGTCAGGGCGCCCCTCCCCACGCCGCGACCCTCCCCACGTGCTGCCGCCAGGGCTGCGGGCCTCCGCCTGATCCGCGCGAGCGGGGCCGAAAGCCGGGTCGGGGGCGCGGCCTGGCCACCTGCGGGCCCCTCTGGGCCCCGCTGCCTCCTTCGCTGTTCGCCGTCCCGGCTCCGGCGACAGCCGCCCGGCGCTCCCCTCCTAACACCTATCCTCCGCCGGGGCGGGAGGAGACGGCGCGGGCCGCACGGGAACGGCGAGGAGCCC... | CTGTGGGACGAGTTCAACCAGCTGGGCACCGAGATGATCGTCACCAAGGCCGGCAGGTCAGGGCGCCCCTCCCCACGCCGCGACCCTCCCCACGTGCTGCCGCCAGGGCTGCGGGCCTCCGCCTGATCCGCGCGAGCGGGGCCGAAAGCCGGGTCGGGGGCGCGGCCTGGCCACCTGCGGGCCCCTCTGGGCCCCGCTGCCTCCTTCGCTGTTCGCCGTCCCGGCTCCGGCGACAGCCGCCCGGCGCTCCCCTCCTAACACCTATCCTCCGCCGGGGCGGGAGGAGACGGCGCGGGCCGCACGGGAACGGCGAGGAGCCC... |
Task1_train_28598 | This variant affects the gene TBX1 (T-box transcription factor 1) found on Chromosome 22. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Velocardiofacial syndrome | CTCCTGAGGACAGCGGCAGCCCAGCCGCTGGCTCAGGCCAGCCCGGCAAGGGCCTTGTCGGCGCTGGGCTTCACCCGGGAGCCCACGTCCCGCAGCACCCTCCAGCCTGCAGAGGCTTCGGGTGGGGGAGGGAGCGGGCCTGTCCTAGAGGCTGGCTCCTGGCATCTGTCTTCTGCCCACCGCCTGCAGGGAGTTGCTTGTGAGGGGAGGCAGAGGGGACGGCAAGTGAGGGCCAATCCTTGTGTTGTCCTGAAGGGCCCCACGGCCACTACTGCTGTGCCATCATGTGGGGGTAGCCCATGGCCTACACCCGTCCAGGC... | CTCCTGAGGACAGCGGCAGCCCAGCCGCTGGCTCAGGCCAGCCCGGCAAGGGCCTTGTCGGCGCTGGGCTTCACCCGGGAGCCCACGTCCCGCAGCACCCTCCAGCCTGCAGAGGCTTCGGGTGGGGGAGGGAGCGGGCCTGTCCTAGAGGCTGGCTCCTGGCATCTGTCTTCTGCCCACCGCCTGCAGGGAGTTGCTTGTGAGGGGAGGCAGAGGGGACGGCAAGTGAGGGCCAATCCTTGTGTTGTCCTGAAGGGCCCCACGGCCACTACTGCTGTGCCATCATGTGGGGGTAGCCCATGGCCTACACCCGTCCAGGC... |
Task1_train_28599 | Given this context: Chromosome 22, gene TANGO2 (transport and golgi organization 2 homolog) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | TTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTTTTTTTTTTTTTTTTAATCACACTAAGGATTTTAAAAATGCTGTTATAAATGGTATATTTAAATGCTCACTTTCCAGTTCTTGCTAGCATTTACTTATTAGTTCTAATACATCGGTTTTGGTATTCCTTTTGGGTTTTCTTCATATATGATCCTGCTGGTTGCAAATACAGTTTTGTTGGGTTTTTTTTTT... | TTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCTTTTTTTTTTTTTTTTAATCACACTAAGGATTTTAAAAATGCTGTTATAAATGGTATATTTAAATGCTCACTTTCCAGTTCTTGCTAGCATTTACTTATTAGTTCTAATACATCGGTTTTGGTATTCCTTTTGGGTTTTCTTCATATATGATCCTGCTGGTTGCAAATACAGTTTTGTTGGGTTTTTTTTTT... |
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