ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_18400 | Gene MVK (mevalonate kinase) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | GTAGGGAGGCATGTTATTTGAAACTTTTTCTCTTGCAAATGGCAGAAATCCATTTCAACCAGACTTTTGTAGAAAGGGAATGTATTGGCTCTCAACTGAGAAGACCAGAGGTAAATGGCTTCAGGTATAGCTCAATCCAGGGGCTGAAACAATGTGTCGGGAATCTGTCCATCTGCCACGTAATATCTGATCATGTGGCAAGATAGGTCATCTTGGCGACTTGTGTCTGAAGTTAATTATTTTAGCAGCTCTAGTGGGAAGGGGCAGAGGAAACCCTGGGAGGGCTGTGATTGGCCCAGCTTGGACCACATGCCCATCCC... | GTAGGGAGGCATGTTATTTGAAACTTTTTCTCTTGCAAATGGCAGAAATCCATTTCAACCAGACTTTTGTAGAAAGGGAATGTATTGGCTCTCAACTGAGAAGACCAGAGGTAAATGGCTTCAGGTATAGCTCAATCCAGGGGCTGAAACAATGTGTCGGGAATCTGTCCATCTGCCACGTAATATCTGATCATGTGGCAAGATAGGTCATCTTGGCGACTTGTGTCTGAAGTTAATTATTTTAGCAGCTCTAGTGGGAAGGGGCAGAGGAAACCCTGGGAGGGCTGTGATTGGCCCAGCTTGGACCACATGCCCATCCC... |
Task1_train_18401 | This variant affects the gene MVK (mevalonate kinase) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hyperimmunoglobulin D with periodic fever | TTGCAAATGGCAGAAATCCATTTCAACCAGACTTTTGTAGAAAGGGAATGTATTGGCTCTCAACTGAGAAGACCAGAGGTAAATGGCTTCAGGTATAGCTCAATCCAGGGGCTGAAACAATGTGTCGGGAATCTGTCCATCTGCCACGTAATATCTGATCATGTGGCAAGATAGGTCATCTTGGCGACTTGTGTCTGAAGTTAATTATTTTAGCAGCTCTAGTGGGAAGGGGCAGAGGAAACCCTGGGAGGGCTGTGATTGGCCCAGCTTGGACCACATGCCCATCCCTGATCAGTCACCAGTGCCAGAGGCTTCTGTGA... | TTGCAAATGGCAGAAATCCATTTCAACCAGACTTTTGTAGAAAGGGAATGTATTGGCTCTCAACTGAGAAGACCAGAGGTAAATGGCTTCAGGTATAGCTCAATCCAGGGGCTGAAACAATGTGTCGGGAATCTGTCCATCTGCCACGTAATATCTGATCATGTGGCAAGATAGGTCATCTTGGCGACTTGTGTCTGAAGTTAATTATTTTAGCAGCTCTAGTGGGAAGGGGCAGAGGAAACCCTGGGAGGGCTGTGATTGGCCCAGCTTGGACCACATGCCCATCCCTGATCAGTCACCAGTGCCAGAGGCTTCTGTGA... |
Task1_train_18402 | Gene MVK (mevalonate kinase) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mevalonic aciduria | TTGCAAATGGCAGAAATCCATTTCAACCAGACTTTTGTAGAAAGGGAATGTATTGGCTCTCAACTGAGAAGACCAGAGGTAAATGGCTTCAGGTATAGCTCAATCCAGGGGCTGAAACAATGTGTCGGGAATCTGTCCATCTGCCACGTAATATCTGATCATGTGGCAAGATAGGTCATCTTGGCGACTTGTGTCTGAAGTTAATTATTTTAGCAGCTCTAGTGGGAAGGGGCAGAGGAAACCCTGGGAGGGCTGTGATTGGCCCAGCTTGGACCACATGCCCATCCCTGATCAGTCACCAGTGCCAGAGGCTTCTGTGA... | TTGCAAATGGCAGAAATCCATTTCAACCAGACTTTTGTAGAAAGGGAATGTATTGGCTCTCAACTGAGAAGACCAGAGGTAAATGGCTTCAGGTATAGCTCAATCCAGGGGCTGAAACAATGTGTCGGGAATCTGTCCATCTGCCACGTAATATCTGATCATGTGGCAAGATAGGTCATCTTGGCGACTTGTGTCTGAAGTTAATTATTTTAGCAGCTCTAGTGGGAAGGGGCAGAGGAAACCCTGGGAGGGCTGTGATTGGCCCAGCTTGGACCACATGCCCATCCCTGATCAGTCACCAGTGCCAGAGGCTTCTGTGA... |
Task1_train_18403 | This sequence change occurs on Chromosome 12, altering MVK (mevalonate kinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Porokeratosis 3, disseminated superficial actinic type | TTGCAAATGGCAGAAATCCATTTCAACCAGACTTTTGTAGAAAGGGAATGTATTGGCTCTCAACTGAGAAGACCAGAGGTAAATGGCTTCAGGTATAGCTCAATCCAGGGGCTGAAACAATGTGTCGGGAATCTGTCCATCTGCCACGTAATATCTGATCATGTGGCAAGATAGGTCATCTTGGCGACTTGTGTCTGAAGTTAATTATTTTAGCAGCTCTAGTGGGAAGGGGCAGAGGAAACCCTGGGAGGGCTGTGATTGGCCCAGCTTGGACCACATGCCCATCCCTGATCAGTCACCAGTGCCAGAGGCTTCTGTGA... | TTGCAAATGGCAGAAATCCATTTCAACCAGACTTTTGTAGAAAGGGAATGTATTGGCTCTCAACTGAGAAGACCAGAGGTAAATGGCTTCAGGTATAGCTCAATCCAGGGGCTGAAACAATGTGTCGGGAATCTGTCCATCTGCCACGTAATATCTGATCATGTGGCAAGATAGGTCATCTTGGCGACTTGTGTCTGAAGTTAATTATTTTAGCAGCTCTAGTGGGAAGGGGCAGAGGAAACCCTGGGAGGGCTGTGATTGGCCCAGCTTGGACCACATGCCCATCCCTGATCAGTCACCAGTGCCAGAGGCTTCTGTGA... |
Task1_train_18404 | The gene TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Metatropic dysplasia | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... |
Task1_train_18405 | Given a variant located on Chromosome 12 and affecting TRPV4 (transient receptor potential cation channel subfamily V member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... |
Task1_train_18406 | Given a variant located on Chromosome 12 and affecting TRPV4 (transient receptor potential cation channel subfamily V member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Spondylometaphyseal dysplasia, Kozlowski type | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... |
Task1_train_18407 | Given this variant in gene TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... |
Task1_train_18408 | Mutation context: Chromosome 12, Gene TRPV4 (transient receptor potential cation channel subfamily V member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Parastremmatic dwarfism | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... |
Task1_train_18409 | This mutation occurs in TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Spondyloepimetaphyseal dysplasia, Maroteaux type | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... |
Task1_train_18410 | A mutation in TRPV4 (transient receptor potential cation channel subfamily V member 4), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... | AGAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACC... |
Task1_train_18411 | This variant impacts the gene TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Metatropic dysplasia | GAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCA... | GAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCA... |
Task1_train_18412 | A variant has been detected on Chromosome 12 in TRPV4 (transient receptor potential cation channel subfamily V member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Metatropic dysplasia | GAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCA... | GAGGGTCAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCA... |
Task1_train_18413 | Consider a variant on Chromosome 12 in gene TRPV4 (transient receptor potential cation channel subfamily V member 4). Determine its clinical classification and disease relevance. | Pathogenic; Spondylometaphyseal dysplasia, Kozlowski type | CAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCAGAGTCC... | CAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCAGAGTCC... |
Task1_train_18414 | This is a variant in TRPV4 (transient receptor potential cation channel subfamily V member 4), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Brachyrachia (short spine dysplasia) | CAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCAGAGTCC... | CAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCAGAGTCC... |
Task1_train_18415 | A genomic change on Chromosome 12 affects TRPV4 (transient receptor potential cation channel subfamily V member 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | CAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCAGAGTCC... | CAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCAGAGTCC... |
Task1_train_18416 | Gene TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Scapuloperoneal spinal muscular atrophy | CAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCAGAGTCC... | CAGCCTCACCTCCGGCTCATGGCTCACAGCTCCAGGTGGCATGTGGCCCTGTGGACAGACACAGGCAGGCAGTCCTCAAGGAGGCACCATCCCACTTAGCCAGGAGCACCATGACCCCCACCCATCCCAGCTCCACAAGCACTGCCAATCGCCCCTGCCACCATGGTCCTCACCACAGCGACCCGCATGCACACCCAGCACCCTGCTGACACTCCAGGCTCACCCACTGCCACGCCTGCTCCGTGCTGCCTGGCAACCATCCTCCCGCCTAGCAGGACAGCCCTCCCAGTATAATTGTCCCCTGATGAGCACCAGAGTCC... |
Task1_train_18417 | A variant was discovered in gene TRPV4 (transient receptor potential cation channel subfamily V member 4), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Metatropic dysplasia | TGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGGGGACAAAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACACACACAAAAAATTTGCCATCTTAATCATTTTTGAGTATACAATTCAGTGGCATTAAGCACATCCACATTGTGTGACCATCACAGCTATCTATTTCCAAAATTCTTCCATTCCCCCAAGCAGAAATTATTTTTTTTAACCTTCTTTTGAGACAGGGTCTCACTCCATTGCCCAGGCTAGGGTGCAGTGGCACGATCACAGCTCACT... | TGCAGTGAGCCGAGATCACGCCACTGCACTCCAACCTGGGGGACAAAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACACACACAAAAAATTTGCCATCTTAATCATTTTTGAGTATACAATTCAGTGGCATTAAGCACATCCACATTGTGTGACCATCACAGCTATCTATTTCCAAAATTCTTCCATTCCCCCAAGCAGAAATTATTTTTTTTAACCTTCTTTTGAGACAGGGTCTCACTCCATTGCCCAGGCTAGGGTGCAGTGGCACGATCACAGCTCACT... |
Task1_train_18418 | Given this variant in gene TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | GAACCCACCATCCAAGTCTCTGCTTCCCCCTGAGCAAGAACAGGGGAGCCTGTGGCGTCCCGATGCGCGTCGGGCACTGGCTGAGCACTTCTCACGTGCTGACCTGTCTAATCCGCACCGCCAGCCTAGGAGCCCGTGAGATCATTGTCTCATTCCACAGATGAAGAAACTGAGGCTGAGAGAGGTGGGCTGACTTGCCTGAGATCGCCTGGTGGAAATGAACTCTGCTCGGGCCTCTTGGGGCCTCAGTGGCTCCAGAAATTGCAATGGGTAGACGACGCTGGAGCAGCAGGGGCCCCGAGCCAGTGGGGACAGTTCCG... | GAACCCACCATCCAAGTCTCTGCTTCCCCCTGAGCAAGAACAGGGGAGCCTGTGGCGTCCCGATGCGCGTCGGGCACTGGCTGAGCACTTCTCACGTGCTGACCTGTCTAATCCGCACCGCCAGCCTAGGAGCCCGTGAGATCATTGTCTCATTCCACAGATGAAGAAACTGAGGCTGAGAGAGGTGGGCTGACTTGCCTGAGATCGCCTGGTGGAAATGAACTCTGCTCGGGCCTCTTGGGGCCTCAGTGGCTCCAGAAATTGCAATGGGTAGACGACGCTGGAGCAGCAGGGGCCCCGAGCCAGTGGGGACAGTTCCG... |
Task1_train_18419 | The gene TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | CCCGATGCGCGTCGGGCACTGGCTGAGCACTTCTCACGTGCTGACCTGTCTAATCCGCACCGCCAGCCTAGGAGCCCGTGAGATCATTGTCTCATTCCACAGATGAAGAAACTGAGGCTGAGAGAGGTGGGCTGACTTGCCTGAGATCGCCTGGTGGAAATGAACTCTGCTCGGGCCTCTTGGGGCCTCAGTGGCTCCAGAAATTGCAATGGGTAGACGACGCTGGAGCAGCAGGGGCCCCGAGCCAGTGGGGACAGTTCCGCCCTGCCATCCTGGCCCCACTGCCCCAGCCTCACCTGAAGCACCACCTGCGGTCAGGA... | CCCGATGCGCGTCGGGCACTGGCTGAGCACTTCTCACGTGCTGACCTGTCTAATCCGCACCGCCAGCCTAGGAGCCCGTGAGATCATTGTCTCATTCCACAGATGAAGAAACTGAGGCTGAGAGAGGTGGGCTGACTTGCCTGAGATCGCCTGGTGGAAATGAACTCTGCTCGGGCCTCTTGGGGCCTCAGTGGCTCCAGAAATTGCAATGGGTAGACGACGCTGGAGCAGCAGGGGCCCCGAGCCAGTGGGGACAGTTCCGCCCTGCCATCCTGGCCCCACTGCCCCAGCCTCACCTGAAGCACCACCTGCGGTCAGGA... |
Task1_train_18420 | A variant affecting Chromosome 12, within the gene TRPV4 (transient receptor potential cation channel subfamily V member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CAGCCCAAGGACTTGGTCAGTTTCTCCAGCCCTGGTCCCTGGTCCTTCTCCCATGACCCATGCCACTGAGGTCCCAGAATGCTTCTTAGTGGCATCATGACATCACGAAGAAGGTATATCAAGGGAGCTGATGTTGGGCTTTAAGAAAATACCTGGGCTGCTAGTTTAATTATTAAATTTTATCCTTCCATGTATCCATCCTCCTTCAATGTGGCTTTACAGCTTCTCCCACTAAGAAGTGGAGTCTAGGCCAGGTGCAGTGGCTCGCGCCTATAATCCTGCACTTTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCA... | CAGCCCAAGGACTTGGTCAGTTTCTCCAGCCCTGGTCCCTGGTCCTTCTCCCATGACCCATGCCACTGAGGTCCCAGAATGCTTCTTAGTGGCATCATGACATCACGAAGAAGGTATATCAAGGGAGCTGATGTTGGGCTTTAAGAAAATACCTGGGCTGCTAGTTTAATTATTAAATTTTATCCTTCCATGTATCCATCCTCCTTCAATGTGGCTTTACAGCTTCTCCCACTAAGAAGTGGAGTCTAGGCCAGGTGCAGTGGCTCGCGCCTATAATCCTGCACTTTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCA... |
Task1_train_18421 | Here is a mutation in TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | CCAAGGACTTGGTCAGTTTCTCCAGCCCTGGTCCCTGGTCCTTCTCCCATGACCCATGCCACTGAGGTCCCAGAATGCTTCTTAGTGGCATCATGACATCACGAAGAAGGTATATCAAGGGAGCTGATGTTGGGCTTTAAGAAAATACCTGGGCTGCTAGTTTAATTATTAAATTTTATCCTTCCATGTATCCATCCTCCTTCAATGTGGCTTTACAGCTTCTCCCACTAAGAAGTGGAGTCTAGGCCAGGTGCAGTGGCTCGCGCCTATAATCCTGCACTTTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCAGGAG... | CCAAGGACTTGGTCAGTTTCTCCAGCCCTGGTCCCTGGTCCTTCTCCCATGACCCATGCCACTGAGGTCCCAGAATGCTTCTTAGTGGCATCATGACATCACGAAGAAGGTATATCAAGGGAGCTGATGTTGGGCTTTAAGAAAATACCTGGGCTGCTAGTTTAATTATTAAATTTTATCCTTCCATGTATCCATCCTCCTTCAATGTGGCTTTACAGCTTCTCCCACTAAGAAGTGGAGTCTAGGCCAGGTGCAGTGGCTCGCGCCTATAATCCTGCACTTTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCAGGAG... |
Task1_train_18422 | This alteration in TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | AAGGACTTGGTCAGTTTCTCCAGCCCTGGTCCCTGGTCCTTCTCCCATGACCCATGCCACTGAGGTCCCAGAATGCTTCTTAGTGGCATCATGACATCACGAAGAAGGTATATCAAGGGAGCTGATGTTGGGCTTTAAGAAAATACCTGGGCTGCTAGTTTAATTATTAAATTTTATCCTTCCATGTATCCATCCTCCTTCAATGTGGCTTTACAGCTTCTCCCACTAAGAAGTGGAGTCTAGGCCAGGTGCAGTGGCTCGCGCCTATAATCCTGCACTTTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCAGGAGTT... | AAGGACTTGGTCAGTTTCTCCAGCCCTGGTCCCTGGTCCTTCTCCCATGACCCATGCCACTGAGGTCCCAGAATGCTTCTTAGTGGCATCATGACATCACGAAGAAGGTATATCAAGGGAGCTGATGTTGGGCTTTAAGAAAATACCTGGGCTGCTAGTTTAATTATTAAATTTTATCCTTCCATGTATCCATCCTCCTTCAATGTGGCTTTACAGCTTCTCCCACTAAGAAGTGGAGTCTAGGCCAGGTGCAGTGGCTCGCGCCTATAATCCTGCACTTTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCAGGAGTT... |
Task1_train_18423 | Gene TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Spondyloepimetaphyseal dysplasia, Maroteaux type | CTATAATCCTGCACTTTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGCCTCCACCAAAAAAAAAAAATGGAAAAAAAGAAGTGGCGTCTATTTCCCCATCCCTTGAATCGAGGCTGGCCTTGTGACTTGCTTTGGCCAACAGAGTAAGGCAGCAGTGATGCCATGCCAGGAGGTGTCCTTGAACACTTCTGCTCATGTTCTTGGAACCCTAAGGCCACCATGTGGACAAGCCCAAGCTAGCTGTCCAGAAATGAGTGACCATGTGGAAGATAGATAGC... | CTATAATCCTGCACTTTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGCCTCCACCAAAAAAAAAAAATGGAAAAAAAGAAGTGGCGTCTATTTCCCCATCCCTTGAATCGAGGCTGGCCTTGTGACTTGCTTTGGCCAACAGAGTAAGGCAGCAGTGATGCCATGCCAGGAGGTGTCCTTGAACACTTCTGCTCATGTTCTTGGAACCCTAAGGCCACCATGTGGACAAGCCCAAGCTAGCTGTCCAGAAATGAGTGACCATGTGGAAGATAGATAGC... |
Task1_train_18424 | Here is a genetic alteration in TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | TCCTGCACTTTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGCCTCCACCAAAAAAAAAAAATGGAAAAAAAGAAGTGGCGTCTATTTCCCCATCCCTTGAATCGAGGCTGGCCTTGTGACTTGCTTTGGCCAACAGAGTAAGGCAGCAGTGATGCCATGCCAGGAGGTGTCCTTGAACACTTCTGCTCATGTTCTTGGAACCCTAAGGCCACCATGTGGACAAGCCCAAGCTAGCTGTCCAGAAATGAGTGACCATGTGGAAGATAGATAGCAAACCC... | TCCTGCACTTTGGGAGGCTGAGGCAGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGCCTCCACCAAAAAAAAAAAATGGAAAAAAAGAAGTGGCGTCTATTTCCCCATCCCTTGAATCGAGGCTGGCCTTGTGACTTGCTTTGGCCAACAGAGTAAGGCAGCAGTGATGCCATGCCAGGAGGTGTCCTTGAACACTTCTGCTCATGTTCTTGGAACCCTAAGGCCACCATGTGGACAAGCCCAAGCTAGCTGTCCAGAAATGAGTGACCATGTGGAAGATAGATAGCAAACCC... |
Task1_train_18425 | A genetic alteration is present in TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | TCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGGCTTACTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGTCTATAGTTGCGCGCCACCATGCCTGTCTAATTTTTGTATTTTTTGGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTACCCGCCTCAGCCTCCTGAAGTGCTGGGATTACAGATGTGAGCCACTGCGCCCGGCCACCATTCACTGGCTTTTGAACTTGTGCTAGTTATTTAACCCTCCTAAG... | TCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGGCTTACTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTTGTGCCTCAGCCTCCCGAGTAGCTGGGTCTATAGTTGCGCGCCACCATGCCTGTCTAATTTTTGTATTTTTTGGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTACCCGCCTCAGCCTCCTGAAGTGCTGGGATTACAGATGTGAGCCACTGCGCCCGGCCACCATTCACTGGCTTTTGAACTTGTGCTAGTTATTTAACCCTCCTAAG... |
Task1_train_18426 | Consider a variant on Chromosome 12 in gene TRPV4 (transient receptor potential cation channel subfamily V member 4). Determine its clinical classification and disease relevance. | Pathogenic; Metatropic dysplasia | CTTTCTCTTTCCATCCATTCCTCAGCTGCATTCACGGATTCATGAATGGATTCAGCTGCCCAATTCTGCCTCAATGTACCTTTCCACCCTATTCTAGCATCACAGAACTCGGAACTGGAAAGTCCCTTAAAAGACATTTATTTTCAGGCCGGCCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGCGGATCACCTAAGGTCAGCAGTTCAAGATCAGCCTGGCCAATGTGGTGAAACCCTGTCTCCACTAAAAACACAACAATTAGCCGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACT... | CTTTCTCTTTCCATCCATTCCTCAGCTGCATTCACGGATTCATGAATGGATTCAGCTGCCCAATTCTGCCTCAATGTACCTTTCCACCCTATTCTAGCATCACAGAACTCGGAACTGGAAAGTCCCTTAAAAGACATTTATTTTCAGGCCGGCCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGCGGATCACCTAAGGTCAGCAGTTCAAGATCAGCCTGGCCAATGTGGTGAAACCCTGTCTCCACTAAAAACACAACAATTAGCCGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACT... |
Task1_train_18427 | This genomic variant is located on Chromosome 12, within the TRPV4 (transient receptor potential cation channel subfamily V member 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | CTTTCTCTTTCCATCCATTCCTCAGCTGCATTCACGGATTCATGAATGGATTCAGCTGCCCAATTCTGCCTCAATGTACCTTTCCACCCTATTCTAGCATCACAGAACTCGGAACTGGAAAGTCCCTTAAAAGACATTTATTTTCAGGCCGGCCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGCGGATCACCTAAGGTCAGCAGTTCAAGATCAGCCTGGCCAATGTGGTGAAACCCTGTCTCCACTAAAAACACAACAATTAGCCGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACT... | CTTTCTCTTTCCATCCATTCCTCAGCTGCATTCACGGATTCATGAATGGATTCAGCTGCCCAATTCTGCCTCAATGTACCTTTCCACCCTATTCTAGCATCACAGAACTCGGAACTGGAAAGTCCCTTAAAAGACATTTATTTTCAGGCCGGCCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGCGGATCACCTAAGGTCAGCAGTTCAAGATCAGCCTGGCCAATGTGGTGAAACCCTGTCTCCACTAAAAACACAACAATTAGCCGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACT... |
Task1_train_18428 | A mutation on Chromosome 12 affecting TRPV4 (transient receptor potential cation channel subfamily V member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Metatropic dysplasia | ATCCATTCCTCAGCTGCATTCACGGATTCATGAATGGATTCAGCTGCCCAATTCTGCCTCAATGTACCTTTCCACCCTATTCTAGCATCACAGAACTCGGAACTGGAAAGTCCCTTAAAAGACATTTATTTTCAGGCCGGCCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGCGGATCACCTAAGGTCAGCAGTTCAAGATCAGCCTGGCCAATGTGGTGAAACCCTGTCTCCACTAAAAACACAACAATTAGCCGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTCCTAAGGCTGAG... | ATCCATTCCTCAGCTGCATTCACGGATTCATGAATGGATTCAGCTGCCCAATTCTGCCTCAATGTACCTTTCCACCCTATTCTAGCATCACAGAACTCGGAACTGGAAAGTCCCTTAAAAGACATTTATTTTCAGGCCGGCCGCAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGCGGATCACCTAAGGTCAGCAGTTCAAGATCAGCCTGGCCAATGTGGTGAAACCCTGTCTCCACTAAAAACACAACAATTAGCCGGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTCCTAAGGCTGAG... |
Task1_train_18429 | This variant affects gene TRPV4 (transient receptor potential cation channel subfamily V member 4) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Spondylometaphyseal dysplasia, Kozlowski type | GGAGGGTCAGGGGGCTCACACTGGAAAGACCCCCAGGGCTGGGCCCAGCTCAGCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATAC... | GGAGGGTCAGGGGGCTCACACTGGAAAGACCCCCAGGGCTGGGCCCAGCTCAGCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATAC... |
Task1_train_18430 | A variant was discovered in gene TRPV4 (transient receptor potential cation channel subfamily V member 4), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Metatropic dysplasia | CAGGGGGCTCACACTGGAAAGACCCCCAGGGCTGGGCCCAGCTCAGCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGAT... | CAGGGGGCTCACACTGGAAAGACCCCCAGGGCTGGGCCCAGCTCAGCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGAT... |
Task1_train_18431 | A mutation in TRPV4 (transient receptor potential cation channel subfamily V member 4), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; TRPV4-related disorder | GCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGATCACATGCGGTCCTTCCTGTTACCACTCCTCCTTCCCTGGCTTACA... | GCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGATCACATGCGGTCCTTCCTGTTACCACTCCTCCTTCCCTGGCTTACA... |
Task1_train_18432 | The following genetic variant occurs in TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | GCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGATCACATGCGGTCCTTCCTGTTACCACTCCTCCTTCCCTGGCTTACA... | GCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGATCACATGCGGTCCTTCCTGTTACCACTCCTCCTTCCCTGGCTTACA... |
Task1_train_18433 | A variant found in Chromosome 12 affects TRPV4 (transient receptor potential cation channel subfamily V member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | GCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGATCACATGCGGTCCTTCCTGTTACCACTCCTCCTTCCCTGGCTTACA... | GCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGATCACATGCGGTCCTTCCTGTTACCACTCCTCCTTCCCTGGCTTACA... |
Task1_train_18434 | A variant on Chromosome 12 in gene TRPV4 (transient receptor potential cation channel subfamily V member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Charcot-Marie-Tooth disease | GCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGATCACATGCGGTCCTTCCTGTTACCACTCCTCCTTCCCTGGCTTACA... | GCACATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGATCACATGCGGTCCTTCCTGTTACCACTCCTCCTTCCCTGGCTTACA... |
Task1_train_18435 | Here is a genetic alteration in TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | CATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGATCACATGCGGTCCTTCCTGTTACCACTCCTCCTTCCCTGGCTTACACAC... | CATGACGCCTCCCCAGAAAACAGCTAAGCACCGGCTGCTGGAGGACCCTTTCCTCATCTTGTTTAATTCTTGCTCTTATTATCTTGGTTTACAGATAAAGAATGGAGGCTGGGAAAAACGAAGGGTGTTCCAGAAGCCACTTAACCAGTCAGCTGGAGCCAGACAGAACCTGGATGAGCCTTCAACATCTTAATTGTAATGAATATCTTCTTCATGCCGTTAAAATAGCAATGAATCCATCTTAATGACATGTGAATTATAATACTGACGATCACATGCGGTCCTTCCTGTTACCACTCCTCCTTCCCTGGCTTACACAC... |
Task1_train_18436 | A variant was discovered on Chromosome 12, affecting TRPV4 (transient receptor potential cation channel subfamily V member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | ATCAGCTGTGCCCCCAGCCGCACACTCACCCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGG... | ATCAGCTGTGCCCCCAGCCGCACACTCACCCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGG... |
Task1_train_18437 | A variant on Chromosome 12 in gene TRPV4 (transient receptor potential cation channel subfamily V member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | TGTGCCCCCAGCCGCACACTCACCCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTC... | TGTGCCCCCAGCCGCACACTCACCCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTC... |
Task1_train_18438 | A genomic change on Chromosome 12 affects TRPV4 (transient receptor potential cation channel subfamily V member 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CCCAGCCGCACACTCACCCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGC... | CCCAGCCGCACACTCACCCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGC... |
Task1_train_18439 | Here’s a variant in TRPV4 (transient receptor potential cation channel subfamily V member 4) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial digital arthropathy-brachydactyly | GCACACTCACCCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGCGGGCCAG... | GCACACTCACCCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGCGGGCCAG... |
Task1_train_18440 | A change on Chromosome 12 affects gene TRPV4 (transient receptor potential cation channel subfamily V member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Familial digital arthropathy-brachydactyly | CACCCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGCGGGCCAGGGTGAAG... | CACCCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGCGGGCCAGGGTGAAG... |
Task1_train_18441 | Given this variant in gene TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial digital arthropathy-brachydactyly | CCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGCGGGCCAGGGTGAAGGGT... | CCCAATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGCGGGCCAGGGTGAAGGGT... |
Task1_train_18442 | A genetic alteration is present in TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | ATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGCGGGCCAGGGTGAAGGGTGGGA... | ATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGCGGGCCAGGGTGAAGGGTGGGA... |
Task1_train_18443 | This mutation is located in gene TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inborn genetic diseases | ATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGCGGGCCAGGGTGAAGGGTGGGA... | ATCTTGCCCGTCTTGGCAGCCATCATGAGGGGCGAGAGGCCGTCGTTGTTGAGCACGGCCTCCAGGTTGCTGTCGGGGAAGAGGCGGGCACACTTGAGCAGCAGCAGGTCGTACATCTTGGTAACAAACTTGGTGTTCTCACGGGTGTTGTCAGCAATGGCCACCAGCGCATGCAGCACTGTGTTGCCTCGCGAGTCCTGGCGCCGCATGTCCGCCTTCTTGTGGGGGTTCTCCGTCAGGTAGTTGACAATGTGGGGCTGGTTGGTGCAGGCAGCCAGCGACAGGGGCAGCTCCCCTGCGGGCCAGGGTGAAGGGTGGGA... |
Task1_train_18444 | Given this variant in gene TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | AATCTCAAGCCTGAAGGATACCTAGTTTGTGGAATCCTGAATGTGAGAAGTTTTTAGATTCATAAGATGCTTTAAAAATCCTAGAGGAGGCCAGGCGCAGGCTCACGCCTGTAATCCCAGCAATTTGGGAGACCAAGGAGGGAGATCACCTGAGCCCAGGCGTTTGAGGCAAGCCTGGGCAACACAGTGAGATCCCATCTCTATAGAAATGCTAAAAATTAGCTGGGCCTGGTGACTTACACCTGTGGTCCCAGCTACTCCAGAGGCTGAGGCAGGAGGATTGCTGAAGCCTAGCAGTTCAGTACCAGCCTGGGCAACTG... | AATCTCAAGCCTGAAGGATACCTAGTTTGTGGAATCCTGAATGTGAGAAGTTTTTAGATTCATAAGATGCTTTAAAAATCCTAGAGGAGGCCAGGCGCAGGCTCACGCCTGTAATCCCAGCAATTTGGGAGACCAAGGAGGGAGATCACCTGAGCCCAGGCGTTTGAGGCAAGCCTGGGCAACACAGTGAGATCCCATCTCTATAGAAATGCTAAAAATTAGCTGGGCCTGGTGACTTACACCTGTGGTCCCAGCTACTCCAGAGGCTGAGGCAGGAGGATTGCTGAAGCCTAGCAGTTCAGTACCAGCCTGGGCAACTG... |
Task1_train_18445 | The variant affects gene TRPV4 (transient receptor potential cation channel subfamily V member 4), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease | GGATACCTAGTTTGTGGAATCCTGAATGTGAGAAGTTTTTAGATTCATAAGATGCTTTAAAAATCCTAGAGGAGGCCAGGCGCAGGCTCACGCCTGTAATCCCAGCAATTTGGGAGACCAAGGAGGGAGATCACCTGAGCCCAGGCGTTTGAGGCAAGCCTGGGCAACACAGTGAGATCCCATCTCTATAGAAATGCTAAAAATTAGCTGGGCCTGGTGACTTACACCTGTGGTCCCAGCTACTCCAGAGGCTGAGGCAGGAGGATTGCTGAAGCCTAGCAGTTCAGTACCAGCCTGGGCAACTGATATGGTTTGGCTCT... | GGATACCTAGTTTGTGGAATCCTGAATGTGAGAAGTTTTTAGATTCATAAGATGCTTTAAAAATCCTAGAGGAGGCCAGGCGCAGGCTCACGCCTGTAATCCCAGCAATTTGGGAGACCAAGGAGGGAGATCACCTGAGCCCAGGCGTTTGAGGCAAGCCTGGGCAACACAGTGAGATCCCATCTCTATAGAAATGCTAAAAATTAGCTGGGCCTGGTGACTTACACCTGTGGTCCCAGCTACTCCAGAGGCTGAGGCAGGAGGATTGCTGAAGCCTAGCAGTTCAGTACCAGCCTGGGCAACTGATATGGTTTGGCTCT... |
Task1_train_18446 | With a mutation on Chromosome 12 in gene TRPV4 (transient receptor potential cation channel subfamily V member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2C | GGATACCTAGTTTGTGGAATCCTGAATGTGAGAAGTTTTTAGATTCATAAGATGCTTTAAAAATCCTAGAGGAGGCCAGGCGCAGGCTCACGCCTGTAATCCCAGCAATTTGGGAGACCAAGGAGGGAGATCACCTGAGCCCAGGCGTTTGAGGCAAGCCTGGGCAACACAGTGAGATCCCATCTCTATAGAAATGCTAAAAATTAGCTGGGCCTGGTGACTTACACCTGTGGTCCCAGCTACTCCAGAGGCTGAGGCAGGAGGATTGCTGAAGCCTAGCAGTTCAGTACCAGCCTGGGCAACTGATATGGTTTGGCTCT... | GGATACCTAGTTTGTGGAATCCTGAATGTGAGAAGTTTTTAGATTCATAAGATGCTTTAAAAATCCTAGAGGAGGCCAGGCGCAGGCTCACGCCTGTAATCCCAGCAATTTGGGAGACCAAGGAGGGAGATCACCTGAGCCCAGGCGTTTGAGGCAAGCCTGGGCAACACAGTGAGATCCCATCTCTATAGAAATGCTAAAAATTAGCTGGGCCTGGTGACTTACACCTGTGGTCCCAGCTACTCCAGAGGCTGAGGCAGGAGGATTGCTGAAGCCTAGCAGTTCAGTACCAGCCTGGGCAACTGATATGGTTTGGCTCT... |
Task1_train_18447 | This variant lies on Chromosome 12 and affects the gene TRPV4 (transient receptor potential cation channel subfamily V member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; TRPV4-related disorder | CAGGAAGAGAAGGTAGGGAGATGGATGGATGAATAGATGCAAAAATGGAAGAAAAGATGAGCAAATGAATAAATGAGTCAGTGACTAAGCAAACAAAAGAGTGAATGGACAAATGGATGGACAGAGATCTGGGTGAATGAATTGGTGGTTAGAAGAGAGAAGGAGAGGAAGGAAAGAAGGACAGCAGGCAGGTGAGCAATCAAGCATGAGAAATGGAATGAATGAATGAATAAATGAATGAATGATGAATAGTTTGATAGCTGAATGGCTAGATGACTAGAAACAGTGGGTAGGTGAGAAGATGAAATGACATTCAGATG... | CAGGAAGAGAAGGTAGGGAGATGGATGGATGAATAGATGCAAAAATGGAAGAAAAGATGAGCAAATGAATAAATGAGTCAGTGACTAAGCAAACAAAAGAGTGAATGGACAAATGGATGGACAGAGATCTGGGTGAATGAATTGGTGGTTAGAAGAGAGAAGGAGAGGAAGGAAAGAAGGACAGCAGGCAGGTGAGCAATCAAGCATGAGAAATGGAATGAATGAATGAATAAATGAATGAATGATGAATAGTTTGATAGCTGAATGGCTAGATGACTAGAAACAGTGGGTAGGTGAGAAGATGAAATGACATTCAGATG... |
Task1_train_18448 | A mutation found in TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; TRPV4-related bone disorder | TGGATGGATGAATAGATGCAAAAATGGAAGAAAAGATGAGCAAATGAATAAATGAGTCAGTGACTAAGCAAACAAAAGAGTGAATGGACAAATGGATGGACAGAGATCTGGGTGAATGAATTGGTGGTTAGAAGAGAGAAGGAGAGGAAGGAAAGAAGGACAGCAGGCAGGTGAGCAATCAAGCATGAGAAATGGAATGAATGAATGAATAAATGAATGAATGATGAATAGTTTGATAGCTGAATGGCTAGATGACTAGAAACAGTGGGTAGGTGAGAAGATGAAATGACATTCAGATGAGAAAATGGTAGATGAATGGA... | TGGATGGATGAATAGATGCAAAAATGGAAGAAAAGATGAGCAAATGAATAAATGAGTCAGTGACTAAGCAAACAAAAGAGTGAATGGACAAATGGATGGACAGAGATCTGGGTGAATGAATTGGTGGTTAGAAGAGAGAAGGAGAGGAAGGAAAGAAGGACAGCAGGCAGGTGAGCAATCAAGCATGAGAAATGGAATGAATGAATGAATAAATGAATGAATGATGAATAGTTTGATAGCTGAATGGCTAGATGACTAGAAACAGTGGGTAGGTGAGAAGATGAAATGACATTCAGATGAGAAAATGGTAGATGAATGGA... |
Task1_train_18449 | The gene TRPV4 (transient receptor potential cation channel subfamily V member 4) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Metatropic dysplasia | AGATGCAAAAATGGAAGAAAAGATGAGCAAATGAATAAATGAGTCAGTGACTAAGCAAACAAAAGAGTGAATGGACAAATGGATGGACAGAGATCTGGGTGAATGAATTGGTGGTTAGAAGAGAGAAGGAGAGGAAGGAAAGAAGGACAGCAGGCAGGTGAGCAATCAAGCATGAGAAATGGAATGAATGAATGAATAAATGAATGAATGATGAATAGTTTGATAGCTGAATGGCTAGATGACTAGAAACAGTGGGTAGGTGAGAAGATGAAATGACATTCAGATGAGAAAATGGTAGATGAATGGAAGGTTGGTTATAT... | AGATGCAAAAATGGAAGAAAAGATGAGCAAATGAATAAATGAGTCAGTGACTAAGCAAACAAAAGAGTGAATGGACAAATGGATGGACAGAGATCTGGGTGAATGAATTGGTGGTTAGAAGAGAGAAGGAGAGGAAGGAAAGAAGGACAGCAGGCAGGTGAGCAATCAAGCATGAGAAATGGAATGAATGAATGAATAAATGAATGAATGATGAATAGTTTGATAGCTGAATGGCTAGATGACTAGAAACAGTGGGTAGGTGAGAAGATGAAATGACATTCAGATGAGAAAATGGTAGATGAATGGAAGGTTGGTTATAT... |
Task1_train_18450 | A mutation in ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | AGAATTGGTACGAAATGGTGCAGAGCTGGTCTCAGAGGGCAACAACAGCCAGCCCTCCATGACCACACTCCCACCGTGCACTCACGTGCCCCTCTTGAAGCGGCTCTGATCCTGTGACCTAACCAGTTTCCACCTGGCTTCTCTCAGTGCGTTGCCATATAGTATAATTTTTTGTTTGTTTGTTTCGTGTAGGGTTTTGTTGGTTCTTTTCCAAGTATCAATCAAAACTACATGCCAACGTCCACTCCTTGGAAATAATTAAATGACATGACGTGCCTGATTTTTTCAGCTGGTGATGCACTGTAATTTGCATCTGCTGA... | AGAATTGGTACGAAATGGTGCAGAGCTGGTCTCAGAGGGCAACAACAGCCAGCCCTCCATGACCACACTCCCACCGTGCACTCACGTGCCCCTCTTGAAGCGGCTCTGATCCTGTGACCTAACCAGTTTCCACCTGGCTTCTCTCAGTGCGTTGCCATATAGTATAATTTTTTGTTTGTTTGTTTCGTGTAGGGTTTTGTTGGTTCTTTTCCAAGTATCAATCAAAACTACATGCCAACGTCCACTCCTTGGAAATAATTAAATGACATGACGTGCCTGATTTTTTCAGCTGGTGATGCACTGTAATTTGCATCTGCTGA... |
Task1_train_18451 | An alteration has been detected in ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | AGAATTGGTACGAAATGGTGCAGAGCTGGTCTCAGAGGGCAACAACAGCCAGCCCTCCATGACCACACTCCCACCGTGCACTCACGTGCCCCTCTTGAAGCGGCTCTGATCCTGTGACCTAACCAGTTTCCACCTGGCTTCTCTCAGTGCGTTGCCATATAGTATAATTTTTTGTTTGTTTGTTTCGTGTAGGGTTTTGTTGGTTCTTTTCCAAGTATCAATCAAAACTACATGCCAACGTCCACTCCTTGGAAATAATTAAATGACATGACGTGCCTGATTTTTTCAGCTGGTGATGCACTGTAATTTGCATCTGCTGA... | AGAATTGGTACGAAATGGTGCAGAGCTGGTCTCAGAGGGCAACAACAGCCAGCCCTCCATGACCACACTCCCACCGTGCACTCACGTGCCCCTCTTGAAGCGGCTCTGATCCTGTGACCTAACCAGTTTCCACCTGGCTTCTCTCAGTGCGTTGCCATATAGTATAATTTTTTGTTTGTTTGTTTCGTGTAGGGTTTTGTTGGTTCTTTTCCAAGTATCAATCAAAACTACATGCCAACGTCCACTCCTTGGAAATAATTAAATGACATGACGTGCCTGATTTTTTCAGCTGGTGATGCACTGTAATTTGCATCTGCTGA... |
Task1_train_18452 | With a mutation on Chromosome 12 in gene ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CTCCCACCGTGCACTCACGTGCCCCTCTTGAAGCGGCTCTGATCCTGTGACCTAACCAGTTTCCACCTGGCTTCTCTCAGTGCGTTGCCATATAGTATAATTTTTTGTTTGTTTGTTTCGTGTAGGGTTTTGTTGGTTCTTTTCCAAGTATCAATCAAAACTACATGCCAACGTCCACTCCTTGGAAATAATTAAATGACATGACGTGCCTGATTTTTTCAGCTGGTGATGCACTGTAATTTGCATCTGCTGAAGGAATTTATCTTAAGTCCTGAAGCCCAGCCACTTGAGACAACTGAGGTGATTTTTCTGCTCTGCTT... | CTCCCACCGTGCACTCACGTGCCCCTCTTGAAGCGGCTCTGATCCTGTGACCTAACCAGTTTCCACCTGGCTTCTCTCAGTGCGTTGCCATATAGTATAATTTTTTGTTTGTTTGTTTCGTGTAGGGTTTTGTTGGTTCTTTTCCAAGTATCAATCAAAACTACATGCCAACGTCCACTCCTTGGAAATAATTAAATGACATGACGTGCCTGATTTTTTCAGCTGGTGATGCACTGTAATTTGCATCTGCTGAAGGAATTTATCTTAAGTCCTGAAGCCCAGCCACTTGAGACAACTGAGGTGATTTTTCTGCTCTGCTT... |
Task1_train_18453 | The gene ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | GAGCCTGGGCGACAGAGCTAGACTTCGTCTCAGAAAAAAAAGATTCGAGTTTTTAAAAAAAGAACATTCTTAAGTCTTTAGTATACTGAATGGTATGAGCAGCAATAGAGGGTTGTGGCCTTCTGAAAGTAAGGAAAATTATAATGACAGTATAAGGTAGTATGAGGGGCATAGTCTTTTATTTCTGACCAGTGTCATCAAGGAGGGCTTTATTTTTTTTAAGACGGAGTCTCGCTCTGTCAACCAGGCTGGAGTGCAGTGGCACGATCTTGGCCCACTGCAGCCTCCACCTCCCGGACTCAAGAGATTCTCCCACCTCA... | GAGCCTGGGCGACAGAGCTAGACTTCGTCTCAGAAAAAAAAGATTCGAGTTTTTAAAAAAAGAACATTCTTAAGTCTTTAGTATACTGAATGGTATGAGCAGCAATAGAGGGTTGTGGCCTTCTGAAAGTAAGGAAAATTATAATGACAGTATAAGGTAGTATGAGGGGCATAGTCTTTTATTTCTGACCAGTGTCATCAAGGAGGGCTTTATTTTTTTTAAGACGGAGTCTCGCTCTGTCAACCAGGCTGGAGTGCAGTGGCACGATCTTGGCCCACTGCAGCCTCCACCTCCCGGACTCAAGAGATTCTCCCACCTCA... |
Task1_train_18454 | This mutation is located in gene ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Darier disease, acral hemorrhagic type | CACTTGCTAATTGCTACTCCAGAGCATAGCCAGATGTGGCCCACACCTGTAATTCCAGCACTTTGAGGAGGACAAGATGAGCAAATTGTTTGAGTCCACGAGTTGGAGACCACCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAAATACCAAAAAAATTAACCCGGCGTGGTATTGGGTGCCTGTAATCCCAGCTATTCAGGAAGCCAAGTTGGGAAGATTGCTTGAGCCCAGGAAGTTGAGGCTGTAGTGAGTTGTGATGGTGCCATTGCACCAGCCCGGGTGATAGAGCAAGACCTCTGTCTCGAAAAAAAAA... | CACTTGCTAATTGCTACTCCAGAGCATAGCCAGATGTGGCCCACACCTGTAATTCCAGCACTTTGAGGAGGACAAGATGAGCAAATTGTTTGAGTCCACGAGTTGGAGACCACCCTGGGCAACATGGTAAAACCTCATCTCTACAAAAAAATACCAAAAAAATTAACCCGGCGTGGTATTGGGTGCCTGTAATCCCAGCTATTCAGGAAGCCAAGTTGGGAAGATTGCTTGAGCCCAGGAAGTTGAGGCTGTAGTGAGTTGTGATGGTGCCATTGCACCAGCCCGGGTGATAGAGCAAGACCTCTGTCTCGAAAAAAAAA... |
Task1_train_18455 | This alteration occurs within gene ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Keratosis follicularis | GTCAGTTCATCAGCCTTCAGTCCTCCCGTAGCTTCCTAGGTTAGATGCTGATGTTCTTGGGGATTTCTATGATGATTTTTAAATGTGTGTCAGTGGGAGCAAATATAATTAACTCACCACATTAACCAAATTAAGGTGGAAAAAACAATAAGGTCACCTCAGTAGGTGCATATGATGAAACGCATCTTATCACACCAAACTAAGACTATAAAAGTGTGTCTTTAACGCTGACAGTGTGTTTACACAGAGACCATGCTAACATAACAGAATTCTCACCATTTCTATGCAGTATTATACTGGCATTCCTGGTCTGTGTAATA... | GTCAGTTCATCAGCCTTCAGTCCTCCCGTAGCTTCCTAGGTTAGATGCTGATGTTCTTGGGGATTTCTATGATGATTTTTAAATGTGTGTCAGTGGGAGCAAATATAATTAACTCACCACATTAACCAAATTAAGGTGGAAAAAACAATAAGGTCACCTCAGTAGGTGCATATGATGAAACGCATCTTATCACACCAAACTAAGACTATAAAAGTGTGTCTTTAACGCTGACAGTGTGTTTACACAGAGACCATGCTAACATAACAGAATTCTCACCATTTCTATGCAGTATTATACTGGCATTCCTGGTCTGTGTAATA... |
Task1_train_18456 | Gene ATP2A2, LOC126861637 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2| MED14-independent group 3 enhancer GRCh37_chr12:110778306-110779505) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | GCCAGGCTGGTCATGAACTGCTGACCTCAGGTGATCCACTGCACCCGACCACCTTCAGCCAATTCTTGACAACTGGAGCTTGAGACCCTCCGTTGTCTTCTGTTTTACTTGTCTTAAAAGCCAAATGCCCCATAATGACTTTTGAGGTCTTAATGACCTGCTTCTACCATCCTCTGCCATTACCTGCCTCACCTTTTGCTCATGTAAACTCTATTCCAGCCACGTTGGCACTCCTTTACCATTCCAGGACTTGCCAGGTTGCACTTCCGTTCTCTGCCTGGTGGGTCTTCACCACCACCCACTGGGTTCACACACATCTT... | GCCAGGCTGGTCATGAACTGCTGACCTCAGGTGATCCACTGCACCCGACCACCTTCAGCCAATTCTTGACAACTGGAGCTTGAGACCCTCCGTTGTCTTCTGTTTTACTTGTCTTAAAAGCCAAATGCCCCATAATGACTTTTGAGGTCTTAATGACCTGCTTCTACCATCCTCTGCCATTACCTGCCTCACCTTTTGCTCATGTAAACTCTATTCCAGCCACGTTGGCACTCCTTTACCATTCCAGGACTTGCCAGGTTGCACTTCCGTTCTCTGCCTGGTGGGTCTTCACCACCACCCACTGGGTTCACACACATCTT... |
Task1_train_18457 | A variant has been detected on Chromosome 12 in ATP2A2, LOC126861637 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2| MED14-independent group 3 enhancer GRCh37_chr12:110778306-110779505). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Keratosis follicularis | TTTACCATTCCAGGACTTGCCAGGTTGCACTTCCGTTCTCTGCCTGGTGGGTCTTCACCACCACCCACTGGGTTCACACACATCTTTTCAGGCCCCATGGGGCCATCTTTATTCAAATGTCACCGCCTTCTGGCCACTTTATGTAACAGTTCATATGTATGTATGCAAATTTTCTATCCCCCTTCCCTTTTTCTCTATAGCACTTGTGTTACTTTTGCATCTTAGTCTGTCTCTCCCAAAATAGGGGACAAGTTTCATGAGGGCAAAAACCTGTCTGTTTTGTTTATTGCTATATTCCTAGCATCTGTCATGTAATAGGT... | TTTACCATTCCAGGACTTGCCAGGTTGCACTTCCGTTCTCTGCCTGGTGGGTCTTCACCACCACCCACTGGGTTCACACACATCTTTTCAGGCCCCATGGGGCCATCTTTATTCAAATGTCACCGCCTTCTGGCCACTTTATGTAACAGTTCATATGTATGTATGCAAATTTTCTATCCCCCTTCCCTTTTTCTCTATAGCACTTGTGTTACTTTTGCATCTTAGTCTGTCTCTCCCAAAATAGGGGACAAGTTTCATGAGGGCAAAAACCTGTCTGTTTTGTTTATTGCTATATTCCTAGCATCTGTCATGTAATAGGT... |
Task1_train_18458 | The gene ATP2A2, LOC126861637 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2| MED14-independent group 3 enhancer GRCh37_chr12:110778306-110779505) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Acrokeratosis verruciformis of Hopf | TCACCACCACCCACTGGGTTCACACACATCTTTTCAGGCCCCATGGGGCCATCTTTATTCAAATGTCACCGCCTTCTGGCCACTTTATGTAACAGTTCATATGTATGTATGCAAATTTTCTATCCCCCTTCCCTTTTTCTCTATAGCACTTGTGTTACTTTTGCATCTTAGTCTGTCTCTCCCAAAATAGGGGACAAGTTTCATGAGGGCAAAAACCTGTCTGTTTTGTTTATTGCTATATTCCTAGCATCTGTCATGTAATAGGTGTGCTTACTGCTTGTTAGGTAAAAAAGTTCAGAAATTGCCACCCAGTAGTATCC... | TCACCACCACCCACTGGGTTCACACACATCTTTTCAGGCCCCATGGGGCCATCTTTATTCAAATGTCACCGCCTTCTGGCCACTTTATGTAACAGTTCATATGTATGTATGCAAATTTTCTATCCCCCTTCCCTTTTTCTCTATAGCACTTGTGTTACTTTTGCATCTTAGTCTGTCTCTCCCAAAATAGGGGACAAGTTTCATGAGGGCAAAAACCTGTCTGTTTTGTTTATTGCTATATTCCTAGCATCTGTCATGTAATAGGTGTGCTTACTGCTTGTTAGGTAAAAAAGTTCAGAAATTGCCACCCAGTAGTATCC... |
Task1_train_18459 | A change on Chromosome 12 affects gene ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | AATTAGCCAGGTGTGGTGGCGCATACCTGTAGTCCCAGCTACCCTGGAGGCTGAGGCAGAAGAGTCTCTTGAACCTGGGAGGCGGAGGTCGCAGTGAGCTGAGATTGCGCCATGGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGCCTCAAAAAAAAAAAAAGAAAAAAAATGCAGAAACCTGTCTCAATGTTTAACTGGGCATTTTTCAAACTAGGGGACAAAAACTAGAACTTGCCACTTTTATTTAAAGTGATGCTCTTATTTTAGACCAATCTGACCTTCGTTGGCTGCGTGGGCATGCTGGATCCTCCGAGA... | AATTAGCCAGGTGTGGTGGCGCATACCTGTAGTCCCAGCTACCCTGGAGGCTGAGGCAGAAGAGTCTCTTGAACCTGGGAGGCGGAGGTCGCAGTGAGCTGAGATTGCGCCATGGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGCCTCAAAAAAAAAAAAAGAAAAAAAATGCAGAAACCTGTCTCAATGTTTAACTGGGCATTTTTCAAACTAGGGGACAAAAACTAGAACTTGCCACTTTTATTTAAAGTGATGCTCTTATTTTAGACCAATCTGACCTTCGTTGGCTGCGTGGGCATGCTGGATCCTCCGAGA... |
Task1_train_18460 | A mutation in ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TGTAAGTTTTCTGAAAATTGAGGATGTAATCAGTCAGTTGTTTGGATCACCCTGCTTTTAAGTTCTTTAAGAGCTGGCTATTGATGAAGCATTTCCAGTATTCTTCCCCTCACCTGATTTTCACCCAGATACATTATGTTAAATTTACTTTCTTCTCTTTTAAAAAAAAATCTTAGTTTTGAAACATACTATAAGTGTACTCTCCTCTCCCCCAGAGGTAACTGAAGTTGGAATTTAGCAAAAATATTAAAAACATGGGAGTGCTGTTTTTGTGTCTGTAGACAGTATTATTTTTGCATGCTTTTGAAGGCATATTTTTT... | TGTAAGTTTTCTGAAAATTGAGGATGTAATCAGTCAGTTGTTTGGATCACCCTGCTTTTAAGTTCTTTAAGAGCTGGCTATTGATGAAGCATTTCCAGTATTCTTCCCCTCACCTGATTTTCACCCAGATACATTATGTTAAATTTACTTTCTTCTCTTTTAAAAAAAAATCTTAGTTTTGAAACATACTATAAGTGTACTCTCCTCTCCCCCAGAGGTAACTGAAGTTGGAATTTAGCAAAAATATTAAAAACATGGGAGTGCTGTTTTTGTGTCTGTAGACAGTATTATTTTTGCATGCTTTTGAAGGCATATTTTTT... |
Task1_train_18461 | With a mutation on Chromosome 12 in gene ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | ATGCACTTGTTGTTTTTGATGCTACCACATGGGGATATTTGCCTCGTCTGAACTCTGTGTATTCTCTGCTGCACCTTGTTGCTTCTTTGCAATAAACTTCCTGAACTCAAAGCTAATACTGGGGGGAATCCCAGAAGCTGCTGAGGGCAGGGCCATGCTGCTCAGTGTTCCACCCTAGCTCCTGACAGCATTTCCCTAGAAAACTGCTGCTGGGCCTCTAATGGAGCAAATAAATCTGTGTACAACTAGGCAGCAATAGTTTGTCCAAAAGTCCTGGTGTAATCTAGTCCCTCAAACTGTGCAGCCTTACATGGAGTACA... | ATGCACTTGTTGTTTTTGATGCTACCACATGGGGATATTTGCCTCGTCTGAACTCTGTGTATTCTCTGCTGCACCTTGTTGCTTCTTTGCAATAAACTTCCTGAACTCAAAGCTAATACTGGGGGGAATCCCAGAAGCTGCTGAGGGCAGGGCCATGCTGCTCAGTGTTCCACCCTAGCTCCTGACAGCATTTCCCTAGAAAACTGCTGCTGGGCCTCTAATGGAGCAAATAAATCTGTGTACAACTAGGCAGCAATAGTTTGTCCAAAAGTCCTGGTGTAATCTAGTCCCTCAAACTGTGCAGCCTTACATGGAGTACA... |
Task1_train_18462 | This sequence variant lies in MYL2 (myosin light chain 2) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypertrophic cardiomyopathy | GCTCCTCCCACTGTTGTCATTGTCAAGCCTTGAGGACTGGCCCTAACTGTGGCTCCTCTGGCCTCCTGGGTCCTCCTGCCTTCACTGTGACCCCAGCTCCACTCCGTCACCACATTTCAGCTTCTTCCCATCACATCACTGACTTGGGCTGTGTCCTGGGTTCTTGGGTTCTTAGGAGTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTCCGAGACGGAGTTTGGCTCTGTCGCCCAGGCTGGAGTGATCTCAGCTCAGTGAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCTT... | GCTCCTCCCACTGTTGTCATTGTCAAGCCTTGAGGACTGGCCCTAACTGTGGCTCCTCTGGCCTCCTGGGTCCTCCTGCCTTCACTGTGACCCCAGCTCCACTCCGTCACCACATTTCAGCTTCTTCCCATCACATCACTGACTTGGGCTGTGTCCTGGGTTCTTGGGTTCTTAGGAGTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTCCGAGACGGAGTTTGGCTCTGTCGCCCAGGCTGGAGTGATCTCAGCTCAGTGAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCTT... |
Task1_train_18463 | A genetic alteration is present in MYL2 (myosin light chain 2) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cardiomyopathy | GCTCCTCCCACTGTTGTCATTGTCAAGCCTTGAGGACTGGCCCTAACTGTGGCTCCTCTGGCCTCCTGGGTCCTCCTGCCTTCACTGTGACCCCAGCTCCACTCCGTCACCACATTTCAGCTTCTTCCCATCACATCACTGACTTGGGCTGTGTCCTGGGTTCTTGGGTTCTTAGGAGTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTCCGAGACGGAGTTTGGCTCTGTCGCCCAGGCTGGAGTGATCTCAGCTCAGTGAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCTT... | GCTCCTCCCACTGTTGTCATTGTCAAGCCTTGAGGACTGGCCCTAACTGTGGCTCCTCTGGCCTCCTGGGTCCTCCTGCCTTCACTGTGACCCCAGCTCCACTCCGTCACCACATTTCAGCTTCTTCCCATCACATCACTGACTTGGGCTGTGTCCTGGGTTCTTGGGTTCTTAGGAGTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTCCGAGACGGAGTTTGGCTCTGTCGCCCAGGCTGGAGTGATCTCAGCTCAGTGAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCTT... |
Task1_train_18464 | Consider a variant on Chromosome 12 in gene MYL2 (myosin light chain 2). Determine its clinical classification and disease relevance. | Pathogenic; Congenital heart disease | GTTGTCATTGTCAAGCCTTGAGGACTGGCCCTAACTGTGGCTCCTCTGGCCTCCTGGGTCCTCCTGCCTTCACTGTGACCCCAGCTCCACTCCGTCACCACATTTCAGCTTCTTCCCATCACATCACTGACTTGGGCTGTGTCCTGGGTTCTTGGGTTCTTAGGAGTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTCCGAGACGGAGTTTGGCTCTGTCGCCCAGGCTGGAGTGATCTCAGCTCAGTGAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTAC... | GTTGTCATTGTCAAGCCTTGAGGACTGGCCCTAACTGTGGCTCCTCTGGCCTCCTGGGTCCTCCTGCCTTCACTGTGACCCCAGCTCCACTCCGTCACCACATTTCAGCTTCTTCCCATCACATCACTGACTTGGGCTGTGTCCTGGGTTCTTGGGTTCTTAGGAGTCTCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTCCGAGACGGAGTTTGGCTCTGTCGCCCAGGCTGGAGTGATCTCAGCTCAGTGAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTAC... |
Task1_train_18465 | Here is a variant affecting MYL2 (myosin light chain 2) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypertrophic cardiomyopathy | GCTGGGGGGTGGGGGATGGGAACATGGGCCACTCAGAGGGTCCTCCGGGGAAGGACTTCCCCAGCTGCTGCAGGGCCCCCTCGCCCAAGGTCATGCCCTTTCTGGGGCAGCCCACAGCCAGCGGATGGGATTGGTGTGGGGGTATAAAGGCACGGCCATCTCGCCCAACTTGGTACCTCTCAGGAGAGCTGTAGAATAAGCTCCCTCCCTGGGTAGTCAGCAGTGCCGATCTTTGGGCCTAAATCTTGGCTCAACTTCTTCCTTCATGCACTTTTCCTTCCTTGCCCTTCCCTGTTCTTCCTTTCTTGCCCTTCCCTGTT... | GCTGGGGGGTGGGGGATGGGAACATGGGCCACTCAGAGGGTCCTCCGGGGAAGGACTTCCCCAGCTGCTGCAGGGCCCCCTCGCCCAAGGTCATGCCCTTTCTGGGGCAGCCCACAGCCAGCGGATGGGATTGGTGTGGGGGTATAAAGGCACGGCCATCTCGCCCAACTTGGTACCTCTCAGGAGAGCTGTAGAATAAGCTCCCTCCCTGGGTAGTCAGCAGTGCCGATCTTTGGGCCTAAATCTTGGCTCAACTTCTTCCTTCATGCACTTTTCCTTCCTTGCCCTTCCCTGTTCTTCCTTTCTTGCCCTTCCCTGTT... |
Task1_train_18466 | The gene MYL2 (myosin light chain 2) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cardiovascular phenotype | CTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCCCTTCACGCCATAATAATGTCATGCTCTAAGCAGGTCTCTATGCATCGTGAGCAAGGCAGAACCTGCAGTCACGCAGACCTAGGTTTGAATCTAGGTCCTGGCATTTACTATTAGTGTT... | CTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCCCTTCACGCCATAATAATGTCATGCTCTAAGCAGGTCTCTATGCATCGTGAGCAAGGCAGAACCTGCAGTCACGCAGACCTAGGTTTGAATCTAGGTCCTGGCATTTACTATTAGTGTT... |
Task1_train_18467 | Assess the clinical impact of this variant on gene MYL2 (myosin light chain 2), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hypertrophic cardiomyopathy 10 | CTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCCCTTCACGCCATAATAATGTCATGCTCTAAGCAGGTCTCTATGCATCGTGAGCAAGGCAGAACCTGCAGTCACGCAGACCTAGGTTTGAATCTAGGTCCTGGCATTTACTATTAGTGTT... | CTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCCCTTCACGCCATAATAATGTCATGCTCTAAGCAGGTCTCTATGCATCGTGAGCAAGGCAGAACCTGCAGTCACGCAGACCTAGGTTTGAATCTAGGTCCTGGCATTTACTATTAGTGTT... |
Task1_train_18468 | Here is a variant affecting MYL2 (myosin light chain 2) on Chromosome 12. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypertrophic cardiomyopathy | CTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCCCTTCACGCCATAATAATGTCATGCTCTAAGCAGGTCTCTATGCATCGTGAGCAAGGCAGAACCTGCAGTCACGCAGACCTAGGTTTGAATCTAGGTCCTGGCATTTACTATTAGTGTT... | CTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCCCTTCACGCCATAATAATGTCATGCTCTAAGCAGGTCTCTATGCATCGTGAGCAAGGCAGAACCTGCAGTCACGCAGACCTAGGTTTGAATCTAGGTCCTGGCATTTACTATTAGTGTT... |
Task1_train_18469 | Here’s a variant in MYL2 (myosin light chain 2) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cardiomyopathy | CTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCCCTTCACGCCATAATAATGTCATGCTCTAAGCAGGTCTCTATGCATCGTGAGCAAGGCAGAACCTGCAGTCACGCAGACCTAGGTTTGAATCTAGGTCCTGGCATTTACTATTAGTGTT... | CTTTGGCAAATTAGCAAAAGTGCCCCTTCTACCAAACTCACTACCGCACCACCTGAGTTGAAAAAAAAAAAAATTATTACCAGACACTTTACTGCCAGTTCTGGAAAGCTGTTGCAACAAATACACAGTCTGATGACTTTTATGAAACTGACATTTAGAAGAATTGTTCAGTGCACAACTCACATGACAGTATGTGGCGGCCCTTCACGCCATAATAATGTCATGCTCTAAGCAGGTCTCTATGCATCGTGAGCAAGGCAGAACCTGCAGTCACGCAGACCTAGGTTTGAATCTAGGTCCTGGCATTTACTATTAGTGTT... |
Task1_train_18470 | Chromosome 12 houses a mutation in gene CUX2 (cut like homeobox 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 67 | TCCTCCTCTGGCTACTCTGGCCAGCCCAACGGCCGCGCCTGGCCCCGCGGGGACGAGGCCCCTGTGCCCCCCGAGGACGAGGCGGCGGCAGGGGCGGAGGACGAACCCCCCAGGACGGGCGAGCTCAAGGCTGAGGGCGCGACGGCCGAGGCGGGCGCGCGGCTGCCCTACTACCCGGCCTACGTGCCGCGCACCCTGAAGCCCACCGTGCCGCCGCTGACCCCCGAGCAGTACGAGCTGTACATGTACCGTGAGGTAGACACGCTGGAGCTCACCCGCCAGGTCAAGGAGAAGCTGGCCAAGAACGGCATCTGCCAGAG... | TCCTCCTCTGGCTACTCTGGCCAGCCCAACGGCCGCGCCTGGCCCCGCGGGGACGAGGCCCCTGTGCCCCCCGAGGACGAGGCGGCGGCAGGGGCGGAGGACGAACCCCCCAGGACGGGCGAGCTCAAGGCTGAGGGCGCGACGGCCGAGGCGGGCGCGCGGCTGCCCTACTACCCGGCCTACGTGCCGCGCACCCTGAAGCCCACCGTGCCGCCGCTGACCCCCGAGCAGTACGAGCTGTACATGTACCGTGAGGTAGACACGCTGGAGCTCACCCGCCAGGTCAAGGAGAAGCTGGCCAAGAACGGCATCTGCCAGAG... |
Task1_train_18471 | This sequence change occurs on Chromosome 12, altering SH2B3 (SH2B adaptor protein 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Primary familial polycythemia due to EPO receptor mutation | CCCCCCGCTAATTTTTTTGTATTTTTACTAGAGATGGGGTTTCACCGTGTTAGCCAGGATAGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCTATGTTTATTTTTTAGACACCAATAATATACTCTCACCGCAACATGGAAATAACAACAATGTCAGCCAGTCTTTATGAAGCATTTTCTACGTTCTAGGGCTTTACAGCTATCAATTCATGCTCATAATATGCCTATGAAGTAGGCATGATCATGGTTCCCCTCTTACAGATGGAG... | CCCCCCGCTAATTTTTTTGTATTTTTACTAGAGATGGGGTTTCACCGTGTTAGCCAGGATAGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCTATGTTTATTTTTTAGACACCAATAATATACTCTCACCGCAACATGGAAATAACAACAATGTCAGCCAGTCTTTATGAAGCATTTTCTACGTTCTAGGGCTTTACAGCTATCAATTCATGCTCATAATATGCCTATGAAGTAGGCATGATCATGGTTCCCCTCTTACAGATGGAG... |
Task1_train_18472 | A mutation in SH2B3 (SH2B adaptor protein 3), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Thrombocythemia 1 | CCTCACTCTGCCTGCCTCATCCTGGCTGCTGGACCTCTGGGAGTAGGAGGTGAAAATGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAG... | CCTCACTCTGCCTGCCTCATCCTGGCTGCTGGACCTCTGGGAGTAGGAGGTGAAAATGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAG... |
Task1_train_18473 | This is a variant in SH2B3 (SH2B adaptor protein 3), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Primary familial polycythemia due to EPO receptor mutation | CCTCACTCTGCCTGCCTCATCCTGGCTGCTGGACCTCTGGGAGTAGGAGGTGAAAATGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAG... | CCTCACTCTGCCTGCCTCATCCTGGCTGCTGGACCTCTGGGAGTAGGAGGTGAAAATGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAG... |
Task1_train_18474 | A genetic alteration is present in SH2B3 (SH2B adaptor protein 3) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Primary familial polycythemia due to EPO receptor mutation | CCTCACTCTGCCTGCCTCATCCTGGCTGCTGGACCTCTGGGAGTAGGAGGTGAAAATGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAG... | CCTCACTCTGCCTGCCTCATCCTGGCTGCTGGACCTCTGGGAGTAGGAGGTGAAAATGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAG... |
Task1_train_18475 | Gene SH2B3 (SH2B adaptor protein 3) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Thrombocythemia 1 | CCTCACTCTGCCTGCCTCATCCTGGCTGCTGGACCTCTGGGAGTAGGAGGTGAAAATGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAG... | CCTCACTCTGCCTGCCTCATCCTGGCTGCTGGACCTCTGGGAGTAGGAGGTGAAAATGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAG... |
Task1_train_18476 | The gene SH2B3 (SH2B adaptor protein 3) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Primary myelofibrosis | CCTCACTCTGCCTGCCTCATCCTGGCTGCTGGACCTCTGGGAGTAGGAGGTGAAAATGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAG... | CCTCACTCTGCCTGCCTCATCCTGGCTGCTGGACCTCTGGGAGTAGGAGGTGAAAATGCCCTGGCTGGTGCTGGTCACTTCAGGCTGGAATTTTCTAGTCATGCAGCTTTCTAGTGAGAGGCCGCAGTGAGCTGTGGCCAGTGTTGGTCATTCCTGCAGTCATTACTCTCCCCCAGCCTGTTGTGTCCGCCAACCAGAGCAGGCCCGGGAGCTCCCAGGAGACCTGCTGGAAGGGCCCAGGTGGCCATCCTGCTCCTGCCAGGCTGCCCTCTTACCTCACTGTTCATTGACTCTCCTGCAGGTGGGGAAGGGGGATAAAG... |
Task1_train_18477 | This mutation occurs in MAPKAPK5 (MAPK activated protein kinase 5) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Neurocardiofaciodigital syndrome | GCTGGGATTACAGGCATGCGCCACCACGCATCTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGATCAGGTTGGCCTTGAACTCCTGACCTCAGGTGATCCATCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTTTAGTTTTTAAAAATATACATTGGGTTTGTTTTTGTTTCTGTTTGAAACCGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCACGATCATGGCTCACTGCAGCCTTGACCTCCTTAAGCTCAAGTGATCCTTCTACCTCAGCCTCCTGAGTA... | GCTGGGATTACAGGCATGCGCCACCACGCATCTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGATCAGGTTGGCCTTGAACTCCTGACCTCAGGTGATCCATCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTTTAGTTTTTAAAAATATACATTGGGTTTGTTTTTGTTTCTGTTTGAAACCGAGTCTTGCTCTGTCACCCAGGCTGGAATGCAGTGGCACGATCATGGCTCACTGCAGCCTTGACCTCCTTAAGCTCAAGTGATCCTTCTACCTCAGCCTCCTGAGTA... |
Task1_train_18478 | Consider a variant on Chromosome 12 in gene HECTD4 (HECT domain E3 ubiquitin protein ligase 4). Determine its clinical classification and disease relevance. | Pathogenic; Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | AGCCACCCCTGGTAGCCTCTCCAGCTGGAACGCGGCAGGCCTGTGGCAGGGGCTGCCCCCACGGCCTTCAGCGCCCTGACAGCTGGGAGAAGGGGGAACATTTCTTTTCACATCATACAAAGATGCACATAACCAGCCCCCACTGACAAACAATGGAGCCTCTTGTGCCATCTCACCAACACTCTCTGAATTGTTTTCAAAATCTGCAACCCAGGAGTAGCTGCCAAATTTCTCTTTAATGCAAGATGTTAAAAATAGGGGATACTGGGGAGGGGAGGAGATTTTAATGCAGATTTTTTTCTGTGAGCCTAAAATTGCTC... | AGCCACCCCTGGTAGCCTCTCCAGCTGGAACGCGGCAGGCCTGTGGCAGGGGCTGCCCCCACGGCCTTCAGCGCCCTGACAGCTGGGAGAAGGGGGAACATTTCTTTTCACATCATACAAAGATGCACATAACCAGCCCCCACTGACAAACAATGGAGCCTCTTGTGCCATCTCACCAACACTCTCTGAATTGTTTTCAAAATCTGCAACCCAGGAGTAGCTGCCAAATTTCTCTTTAATGCAAGATGTTAAAAATAGGGGATACTGGGGAGGGGAGGAGATTTTAATGCAGATTTTTTTCTGTGAGCCTAAAATTGCTC... |
Task1_train_18479 | Here is a mutation in HECTD4 (HECT domain E3 ubiquitin protein ligase 4) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum | CAGTTATGAGTAGACAACTGTTGAAACTGGATAATGGAATCCTGAAGGTTCATTATACTAGTCTCTCAATTTTGGTATTTGGACTTTTCCATACACACACACACACACTCACACACACACTCACACACACACTCACACACACACATGCAAGGATGGATGTTAGTGCAAACTCTTGACTGGGAATTCAAATGTAGCCAATGACAACAGTCAAAATGTACATGCCAGCCCTAAGGACAGCTCCTAAATATTATAGTTCTAATAGGTAAATAAAGGCAACAAATCAATAGGAATGAAGAAAAGAAAACACTCTGACATGGTCC... | CAGTTATGAGTAGACAACTGTTGAAACTGGATAATGGAATCCTGAAGGTTCATTATACTAGTCTCTCAATTTTGGTATTTGGACTTTTCCATACACACACACACACACTCACACACACACTCACACACACACTCACACACACACATGCAAGGATGGATGTTAGTGCAAACTCTTGACTGGGAATTCAAATGTAGCCAATGACAACAGTCAAAATGTACATGCCAGCCCTAAGGACAGCTCCTAAATATTATAGTTCTAATAGGTAAATAAAGGCAACAAATCAATAGGAATGAAGAAAAGAAAACACTCTGACATGGTCC... |
Task1_train_18480 | A variant on Chromosome 12 in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; LEOPARD syndrome 1 | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... |
Task1_train_18481 | An alteration has been detected in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Metachondromatosis | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... |
Task1_train_18482 | This sequence variant lies in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Juvenile myelomonocytic leukemia | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... |
Task1_train_18483 | This variant affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Noonan syndrome 1 | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... |
Task1_train_18484 | This sequence variant lies in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; PTPN11-related disorder | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... |
Task1_train_18485 | This mutation occurs in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cardiovascular phenotype | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... |
Task1_train_18486 | Given this variant in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Noonan syndrome | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... |
Task1_train_18487 | This genomic variant is located on Chromosome 12, within the PTPN11 (protein tyrosine phosphatase non-receptor type 11) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; RASopathy | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... |
Task1_train_18488 | Given this variant in gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Noonan syndrome 1 | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... |
Task1_train_18489 | This sequence change occurs on Chromosome 12, altering PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Noonan syndrome and Noonan-related syndrome | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... | CAAGTTTTTTTTTTTTCTTTTTTGAGACAAGGTCTCACTCTGTCACCCAGGCTGGAGTGTAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGATTACAGGCACGCGCCACCACGCCCAACTAATTTTGTATTTTTAGTAGAGATGGGTTTCTCCATGTTGGTCAGGCTGCTCCCGAACTCCCGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATTCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCATGTTTCAATTTTT... |
Task1_train_18490 | Mutation context: Chromosome 12, Gene PTPN11 (protein tyrosine phosphatase non-receptor type 11). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Noonan syndrome and Noonan-related syndrome | CCTCCTGGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAAT... | CCTCCTGGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAAT... |
Task1_train_18491 | This variant affects gene PTPN11 (protein tyrosine phosphatase non-receptor type 11) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Noonan syndrome | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18492 | A mutation found in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; RASopathy | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18493 | This sequence change occurs on Chromosome 12, altering PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Noonan syndrome 1 | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18494 | A genetic alteration is present in PTPN11 (protein tyrosine phosphatase non-receptor type 11) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Metachondromatosis | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18495 | A variant found in Chromosome 12 affects PTPN11 (protein tyrosine phosphatase non-receptor type 11). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; LEOPARD syndrome 1 | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18496 | A variant has been detected on Chromosome 12 in PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Metachondromatosis | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18497 | A variant has been detected on Chromosome 12 in PTPN11 (protein tyrosine phosphatase non-receptor type 11). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Juvenile myelomonocytic leukemia | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18498 | The gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; LEOPARD syndrome 1 | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
Task1_train_18499 | A variant affecting Chromosome 12, within the gene PTPN11 (protein tyrosine phosphatase non-receptor type 11), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Noonan syndrome 1 | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... | GGGTTCAAGTGATTTTCATGACTCAGCCACCTAAGTAGTTGGGATTACAGCGCCTGGTGTACACTACCACACCCAGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTAATCTCCAACTCTTGGCCTCAAGGGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTGGCCCTATGTTTCTTTTTATAAAAATAAGCAAATTAATATTTTTATTACTATTTTCCTTTTATTTTTACACATCAAGTAGAACATTAAATATATTTCTCTGTAATTTTTTT... |
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