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_17500 | This variant affects the gene COL2A1 (collagen type II alpha 1 chain) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Stickler syndrome type 1 | GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCG... | GAGTGAAGCTGCTTTATTTTGGCCAGCCCTGCAAGGACCTGTGAGGAGGGGCCTCAGAGCTTGGGTGTTGGGGGTATGAAATCAGCAGAAAGCATAATCTTTCTTAAACACAGCTTTCATCGCATCACTCGCCTGACCAAGTGCCTACAAGGACTCTCTATTGCTAAGGAATCAGAGCTAAACGCCTCTGTCTGGCACCCTGCACCCTCCATCAGCTGCCAATCCCCTCACCCTTAATTTCCCACATTAACTAGAGGCCACCAGAGTCTAAGGCTGCAAGGCACTATTTATCTTAAGCTATTTCACCTTTCTGTGTCTCG... |
Task1_train_17501 | This mutation is located in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Stickler syndrome, type I, nonsyndromic ocular | TAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTG... | TAGGGTATTAAACACAGGAAGTGCCTATGGAATGGTGGCCCCTGGTACTATAGCATAACATCCCTCACAGCAGCAGCCAGCATAGAGCCCTGTGAGTTGATGCTCACCTGTTCCACTTTTCTAGGGCATTTGAGCAACCAGGAAGAACAGAGAGTAGCACGGTGGTGCTATAGCCAGCTAAGTCTGTCTGTAAACTCCAGCTGGATTGCCCAGGGAGTGGGTGGTGGTTGTTGAAGGGATTACCTGATAATCTGGACTGGTTAAGAGAATCATGCTTTCACCCATCGACCCTCCCATTCCTATCCTTCCTCCTTCAACTG... |
Task1_train_17502 | This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Stickler syndrome type 1 | AGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCG... | AGAATTTTTTTAAATGGGAGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCG... |
Task1_train_17503 | A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; not provided | AGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGA... | AGCATCTTTAGTGTGATAAAATGGGTATCTTAAGGAAATGTTGGTGAAATCTTGAACAAATCATCTGTCTAATACATTTTGCTTTTTGCTCACAATCAGATGAAATCTACAACACAGAATATGAACTTTGCACAAAGGGAGCTCTTTGCAGCCATCTGATAGTCTGAAGAGTCTTTGATAAACCTTCCTGGAGGGTGTCCATACTTACCATTGGGCCCGGAGATCCGTTCTCACCCGGGGAACCACTCTCACCCTGGAAAAATGATGCACAAGGTCAGTGTCTGGGACCCCATTCTTGGCCGCCAGCAAACTCCTAGGGA... |
Task1_train_17504 | A variant on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGG... | GAGGAGCTAGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGG... |
Task1_train_17505 | The following genetic variant occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | AGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGG... | AGTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGG... |
Task1_train_17506 | This genomic variant is located on Chromosome 12, within the COL2A1 (collagen type II alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; COL2A1-related disorder | GTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGA... | GTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGA... |
Task1_train_17507 | This variant impacts the gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Stickler syndrome type 1 | GTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGA... | GTTCCACTGAGCTCCACAGTGTCTCCCTGGCTAGGAAGAGGGGCTCCTCATTGTCTCCCTCCTCCCCATCCCATTGTACTTTCTGGCCTCTCACCTTCACACCAGGAGCACCCGCCTCTCCCTTAGCACCGTCCAGGCCTGGATAACCCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGA... |
Task1_train_17508 | This mutation occurs in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Spondyloepiphyseal dysplasia with metatarsal shortening | CCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTT... | CCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTT... |
Task1_train_17509 | Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spondyloepiphyseal dysplasia, Stanescu type | CCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTT... | CCTAGGGAACAAGAGAAAATGTTCAATCAGACTTCTGGGAAACCCAAGTTGGAAGAAATGCACGCACCCCAAAGTGCTTTTCTCTCCCACCAGGCATCTCTTCCTTCCAACCTTCTCACCCGTGATACTTACTCTGTGACCTTTGACACCAGGAAGGCCTGGGGTTCCTGGGAAACCACGAGCACCCTGCAATCCAAAGTGGAGGTGTTCAGAGCACAGAGTAAAATAACAGTGGAAAGCTGCCCTGGGCTGCAGGAGGGCCTCCAGTTCCCTTGGGCCACCAGGGCGTTGTCTCGAATCCCCACACTTGGACAGCTCTT... |
Task1_train_17510 | A variant was discovered in gene COL2A1 (collagen type II alpha 1 chain), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Stickler syndrome, type I, nonsyndromic ocular | CGAGGAAGGGACGGAGAAAGAGATTTCTCCCTCTCTTACCTGAGGCCCAGGAGGTCCTTTGGGTCCTACAATCTGTGAGAGAGAGCCCCACAGGATGGTAAGTTAGAGGAGAGCACAAGGAAATGACCCATTTAGAGCAGCAGCTGCAATACCGGGTGAGAATAATTTGCACTTACATCCTTGATGTCTCCAGGTTCTCCTTTCTGTCCCTGAAACATGAAACATTCACAGGATTAAGCCGAGTAAGCCCACTAAGCCCCTAGTCTAAAACCCTGCCAGCAGCCCCTGTGTTGAGGTACCCTCTGAAACAGATATCTTCT... | CGAGGAAGGGACGGAGAAAGAGATTTCTCCCTCTCTTACCTGAGGCCCAGGAGGTCCTTTGGGTCCTACAATCTGTGAGAGAGAGCCCCACAGGATGGTAAGTTAGAGGAGAGCACAAGGAAATGACCCATTTAGAGCAGCAGCTGCAATACCGGGTGAGAATAATTTGCACTTACATCCTTGATGTCTCCAGGTTCTCCTTTCTGTCCCTGAAACATGAAACATTCACAGGATTAAGCCGAGTAAGCCCACTAAGCCCCTAGTCTAAAACCCTGCCAGCAGCCCCTGTGTTGAGGTACCCTCTGAAACAGATATCTTCT... |
Task1_train_17511 | Given this variant in gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | AATGCAAACAAGCCTCACAAAGGAGGATTGAGATCTCTCCCCTGAGCCAGGGGCACTTTCGGAGGCGAGGGCTCTGAAATGCAGATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAG... | AATGCAAACAAGCCTCACAAAGGAGGATTGAGATCTCTCCCCTGAGCCAGGGGCACTTTCGGAGGCGAGGGCTCTGAAATGCAGATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAG... |
Task1_train_17512 | Mutation context: Chromosome 12, Gene COL2A1 (collagen type II alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17513 | Gene COL2A1 (collagen type II alpha 1 chain), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Kniest dysplasia | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17514 | Mutation context: Chromosome 12, Gene COL2A1 (collagen type II alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Spondyloepiphyseal dysplasia with metatarsal shortening | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17515 | Here’s a variant in COL2A1 (collagen type II alpha 1 chain) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Platyspondylic dysplasia, Torrance type | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17516 | An alteration has been detected in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Achondrogenesis type II | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17517 | With a mutation on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Multiple epiphyseal dysplasia, Beighton type | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17518 | A variant has been detected on Chromosome 12 in COL2A1 (collagen type II alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Namaqualand hip dysplasia | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17519 | Here is a genetic alteration in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Spondyloepiphyseal dysplasia congenita | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17520 | A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Stickler syndrome, type I, nonsyndromic ocular | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17521 | A mutation on Chromosome 12 affecting COL2A1 (collagen type II alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Spondyloepimetaphyseal dysplasia, Strudwick type | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17522 | Gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Avascular necrosis of femoral head, primary, 1 | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17523 | With a mutation on Chromosome 12 in gene COL2A1 (collagen type II alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Legg-Calve-Perthes disease | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17524 | The gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spondyloperipheral dysplasia | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17525 | A sequence alteration has been identified in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Spondyloepiphyseal dysplasia, Stanescu type | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17526 | This variant impacts the gene COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Stickler syndrome type 1 | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17527 | An alteration has been detected in COL2A1 (collagen type II alpha 1 chain) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Vitreoretinopathy with phalangeal epiphyseal dysplasia | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... | ATGAGGGTCAAAGACGCCGCCGCCAGTAAGTTTCTCAAACTCGTGGAAAGATGGAGAGGAGGGGTGTGGCCGAGCTCTAGGTGTCTGACATTCCTGACGTCCACGCAGACTGCGCATTTCCCCACGTCACACCTTTGGGTCCGCTGACCCCAGGCGGGGGAAGTTATAAAAGGTGGGATGCTCCAGGGCGCAAAATCAGCCTCTCGGATGCAGAATCACACTCCCTCTGGGAGGAGGAGCGACTGGAAGGTTTGGGCCGGAGAAGCTGTGGAATCACTCCCTCCCAGGAAAGATGCGGCGATGAGAGAGCTCTACCGCCT... |
Task1_train_17528 | The variant affects gene PFKM (phosphofructokinase, muscle), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glycogen storage disease, type VII | TCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATAGGGATGCACCATTGTACTTGGCTCATGTCTTTTATAGGGACCAATAGACCATATTGTAATTCTCCACATGTCTTGAAGACCATTACCAAGTCCTTTATCTTGGTATTCCCAGACTCTGTGGTGGTCATTGCTGTACCCCCAGTGCCTAGCATAGTGCCTGAAACATGATAGGTGTTCAGTTAGTATTTGTTCAGTGAACAAATGGACCTTCAATTCAATTTGGAGCTAATAGCCATGTAATACCAACCTGCAAAAAAAAGAAACATTTTGATTTTTTTTATTC... | TCCTCCTGTCTCAGCCTCCCAAGTAGCTGGGACTATAGGGATGCACCATTGTACTTGGCTCATGTCTTTTATAGGGACCAATAGACCATATTGTAATTCTCCACATGTCTTGAAGACCATTACCAAGTCCTTTATCTTGGTATTCCCAGACTCTGTGGTGGTCATTGCTGTACCCCCAGTGCCTAGCATAGTGCCTGAAACATGATAGGTGTTCAGTTAGTATTTGTTCAGTGAACAAATGGACCTTCAATTCAATTTGGAGCTAATAGCCATGTAATACCAACCTGCAAAAAAAAGAAACATTTTGATTTTTTTTATTC... |
Task1_train_17529 | This sequence variant lies in PFKM (phosphofructokinase, muscle) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Glycogen storage disease, type VII | TGGTCTGTAGAATCCTGTGAAGACCAGAAAGAGCACTATGCAGGCATTCTCTGGTGTCACCTCATATGCATGACCGCAGCTACTGTTGTTGGAATGCTGATTTTGAGTCAGGCGACCTGGTGCTAAGCCCTTTATGGGCATTTTTGCATTTTATCTTCACAATAGACATGCAAAGAAGATACTATCTCCATATAACATAGAAAGTTTAGAGAGGTTAAAAAACTTTTCTAAACTCCTAAGTGAGCAGATGGTTTAAGTGGTTGAGAAAGTCAGTGATCTTTTTACTACATCATGTCTCCCCTTCAGATTTCCCTTGCTGT... | TGGTCTGTAGAATCCTGTGAAGACCAGAAAGAGCACTATGCAGGCATTCTCTGGTGTCACCTCATATGCATGACCGCAGCTACTGTTGTTGGAATGCTGATTTTGAGTCAGGCGACCTGGTGCTAAGCCCTTTATGGGCATTTTTGCATTTTATCTTCACAATAGACATGCAAAGAAGATACTATCTCCATATAACATAGAAAGTTTAGAGAGGTTAAAAAACTTTTCTAAACTCCTAAGTGAGCAGATGGTTTAAGTGGTTGAGAAAGTCAGTGATCTTTTTACTACATCATGTCTCCCCTTCAGATTTCCCTTGCTGT... |
Task1_train_17530 | An alteration has been detected in ADCY6, TEX49 (adenylate cyclase 6| sperm microtubule inner protein 11) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Lethal congenital contracture syndrome 8 | AGGGGTAAAAGGAAGGCAAAGACAGGAAGGGAATCTAGAGTTCAACCTCCTAACCCTTCTGCCAGCCCTCAAGGCTTCACAAGGGACTGGGGAGCTAGAAACATGCTAGACTCAGGCTGAAGGCTGGGGAAAGCCAAGTTTAAGGTTCCTCTTCCCCACCCCGTAGTACCAGTATCCAGGTCCTCAGAGGGATTCCATGCTACCCCAGCCCCAAAGCATACCATGTCCCAGGACACTATCTGGGGAAGCCAGGAAATTCCTCAGCCTCTGTCCATCAAACCCCAGACAGTTCAAGTGCTGGCATGGAGCACTGGGGCTTA... | AGGGGTAAAAGGAAGGCAAAGACAGGAAGGGAATCTAGAGTTCAACCTCCTAACCCTTCTGCCAGCCCTCAAGGCTTCACAAGGGACTGGGGAGCTAGAAACATGCTAGACTCAGGCTGAAGGCTGGGGAAAGCCAAGTTTAAGGTTCCTCTTCCCCACCCCGTAGTACCAGTATCCAGGTCCTCAGAGGGATTCCATGCTACCCCAGCCCCAAAGCATACCATGTCCCAGGACACTATCTGGGGAAGCCAGGAAATTCCTCAGCCTCTGTCCATCAAACCCCAGACAGTTCAAGTGCTGGCATGGAGCACTGGGGCTTA... |
Task1_train_17531 | A variant has been detected on Chromosome 12 in ADCY6 (adenylate cyclase 6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Lethal congenital contracture syndrome 8 | CCTCCCGAGTAGCTGGGATTACAGACATGTACCACCACACCCAACTAATTTTTGTTTTTTTTTTTTTTTTGGGGGGGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGAATTTCACCGTGTTAGTCAGGATGGTCTTGATCTCTTGACCTCGTGATCCGCCTGCCTCGGACTCCCAAAGT... | CCTCCCGAGTAGCTGGGATTACAGACATGTACCACCACACCCAACTAATTTTTGTTTTTTTTTTTTTTTTGGGGGGGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCACCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGAATTTCACCGTGTTAGTCAGGATGGTCTTGATCTCTTGACCTCGTGATCCGCCTGCCTCGGACTCCCAAAGT... |
Task1_train_17532 | Mutation context: Chromosome 12, Gene ARF3 (ARF GTPase 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Atrophy/Degeneration affecting the central nervous system | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... |
Task1_train_17533 | This sequence variant lies in ARF3 (ARF GTPase 3) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypotonia | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... |
Task1_train_17534 | This sequence variant lies in ARF3 (ARF GTPase 3) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Heart, malformation of | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... |
Task1_train_17535 | Consider a variant on Chromosome 12 in gene ARF3 (ARF GTPase 3). Determine its clinical classification and disease relevance. | Pathogenic; Scoliosis | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... |
Task1_train_17536 | This variant impacts the gene ARF3 (ARF GTPase 3) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Seizure | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... |
Task1_train_17537 | Chromosome 12 houses a mutation in gene ARF3 (ARF GTPase 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Microcephaly | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... |
Task1_train_17538 | A sequence alteration has been identified in ARF3 (ARF GTPase 3) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Intellectual disability | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... | ATGGAGGGTGAAGGGACAGCAAGGATGGTCTGAGGGCCTGGAAACAATAGAAAATCTTCGTCCTTTAGCATATCCTGGACTAGAAAACAAGAGTTGGAGAAGAGGGGGGTTGATACTAAGGTCAGCTATGTCACCCCACTTCCCAGCTCCTCATTAGAATACCCAGTCAGCCCTGGTCAGGCCAGTAGGAGTACTAGGGTGAGAAAATTCTGACCAAGGACAGATGACCCATCCAACCCCTAAGATCAGAAGGGTGGTGGGGCACTGGAAGGCAGGAATGGGATTGGCCCATGCCTCACCTTCTCCTAATAACAAAAGAG... |
Task1_train_17539 | This gene mutation involves ARF3 (ARF GTPase 3) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Atrophy/Degeneration affecting the central nervous system | CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCC... | CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCC... |
Task1_train_17540 | A variant found in Chromosome 12 affects ARF3 (ARF GTPase 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Dystonic disorder | CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCC... | CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCC... |
Task1_train_17541 | A variant has been detected on Chromosome 12 in ARF3 (ARF GTPase 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Scoliosis | CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCC... | CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCC... |
Task1_train_17542 | A variant found in Chromosome 12 affects ARF3 (ARF GTPase 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Microcephaly | CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCC... | CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCC... |
Task1_train_17543 | The gene ARF3 (ARF GTPase 3) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Intellectual disability | CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCC... | CCATCCCCACCCCCCAGTCAAGCTCCAGAGGAACAGATCTGAAGATGGTGGGGAAGGATCAGTTGAACACTCTAAGCTGATAAGAGTGAGTGGGTTCCTCTCTCCTTCCCAACAGTAAGGCAGAGCAGAGTGGCATCTCCTTGGGAACAGTCATCTAGAGATAAATGCCATCCTCCAGCCCTAAGAAGGGTGGAGAGAAGAGTACAAGGAAAATGGTGGTGAAGAATCCATCATCTGTCCTATCATCCAGAAAAACCTACCTGCAGAGAGGAGGGTAACCAGTCAAAGACTGGGGCAGTCCGGCTTGACTAATGCCCTCC... |
Task1_train_17544 | Chromosome 12 houses a mutation in gene ARF3 (ARF GTPase 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Atrophy/Degeneration affecting the central nervous system | CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGA... | CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGA... |
Task1_train_17545 | A genetic alteration is present in ARF3 (ARF GTPase 3) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Kyphosis | CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGA... | CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGA... |
Task1_train_17546 | The variant affects gene ARF3 (ARF GTPase 3), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability | CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGA... | CTTGTTTTTGAGCTGATTGGCCAGCCAGTCCAGGCCTTCGTACAGCCCGTCCCCGCTGGTGGCACAGGTGGCCTGAATGTACCAGTTACGGTGACGAAGGGAATGCAGGCCCAGCTTGTCTGTGATCTCAGCAGCGTTCATAGCATTAGGCAGATCCTGGAGCACGTGGGAGACACATAAAAAGAAGCCTCAGGATTTTTTAAAGGCTTCTAGAACACCCATCTACCAAAGAAATGTGTACCAGCACCTTCCCCTCCTCCTTTATTTTAGGAAACCCAGAACAAGATCCTAAGGAGCTACTTTGGATTTAGTCACCTAGA... |
Task1_train_17547 | A genomic change on Chromosome 12 affects WNT10B (Wnt family member 10B). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | AAGGCAACAGAGCGAGATCCTGTCTCAAAAAATAATAATAATAAATAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCGTGTGGATCACTTGAGGCAAGGAGTTCGAGACCAGCCTGGCCAACCAACATGGCGAAAACCCATCTCTACTAAAAATACAAAACTTAGCCAGATATGGTAATGCATACCTGTAATCCCAGCTACTCGGGAGACTAAGGCACAAGGATGGTTTGAACCCAGGAGGAGGAGGTTGCAATGAGCCAAGATCTCACCATTGTACTCCAGCCTGGGTGACAAAGT... | AAGGCAACAGAGCGAGATCCTGTCTCAAAAAATAATAATAATAAATAAGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCGTGTGGATCACTTGAGGCAAGGAGTTCGAGACCAGCCTGGCCAACCAACATGGCGAAAACCCATCTCTACTAAAAATACAAAACTTAGCCAGATATGGTAATGCATACCTGTAATCCCAGCTACTCGGGAGACTAAGGCACAAGGATGGTTTGAACCCAGGAGGAGGAGGTTGCAATGAGCCAAGATCTCACCATTGTACTCCAGCCTGGGTGACAAAGT... |
Task1_train_17548 | This variant affects gene WNT10B (Wnt family member 10B) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Tooth agenesis, selective, 8 | GTAGATACTTTAAGCTTCCAGGGACCAAGAGTGACCTTGGAAGGAAATCAGAGCAAAGGGCTGAAAAGGCGCCCCTCTCACACAGTCCTCTTCCCCAGCCCCAAGGTAAGGCTGACCCTCACTTACACACATTCACCCACTCTGTAACCTTGCACTCATCACACAGCACATAGCAGCACCAGTGGAAGCGGCAATGGCAGCGCTCAACTCGTGTCTGCCGGAGCACGTTGTGCCCACGGCCACAGCACAGGCTGCCACAGCCATCCAACAGGCGGCTGGTCTTGTTGCAGGCCCGGCCCCTTGTCCCTGGGGAGCCCATA... | GTAGATACTTTAAGCTTCCAGGGACCAAGAGTGACCTTGGAAGGAAATCAGAGCAAAGGGCTGAAAAGGCGCCCCTCTCACACAGTCCTCTTCCCCAGCCCCAAGGTAAGGCTGACCCTCACTTACACACATTCACCCACTCTGTAACCTTGCACTCATCACACAGCACATAGCAGCACCAGTGGAAGCGGCAATGGCAGCGCTCAACTCGTGTCTGCCGGAGCACGTTGTGCCCACGGCCACAGCACAGGCTGCCACAGCCATCCAACAGGCGGCTGGTCTTGTTGCAGGCCCGGCCCCTTGTCCCTGGGGAGCCCATA... |
Task1_train_17549 | This variant impacts the gene WNT1 (Wnt family member 1) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GTGTGGTGGTGGGGCATGATAACCAGGCTGGCAGTGCCCCCTATTCCCCATATAGGGAAAAGCAGCCACTTTTTTTTTTTTTTTCAGATGAAGTCTTGCTCTGTAGCCCAGACTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAATCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACACTCAGCTAATTTTTGTATTTTTATTAGAGATGGGATTCCACTATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCC... | GTGTGGTGGTGGGGCATGATAACCAGGCTGGCAGTGCCCCCTATTCCCCATATAGGGAAAAGCAGCCACTTTTTTTTTTTTTTTCAGATGAAGTCTTGCTCTGTAGCCCAGACTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAATCTCCACCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACACTCAGCTAATTTTTGTATTTTTATTAGAGATGGGATTCCACTATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCTGCCTCGGCC... |
Task1_train_17550 | The variant affects gene KMT2D (lysine methyltransferase 2D), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Branchial cleft anomaly | CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCA... | CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCA... |
Task1_train_17551 | A variant was discovered on Chromosome 12, affecting KMT2D (lysine methyltransferase 2D). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; KMT2D-related disorder | CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCA... | CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCA... |
Task1_train_17552 | This gene mutation involves KMT2D (lysine methyltransferase 2D) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Kabuki syndrome | CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCA... | CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCA... |
Task1_train_17553 | This alteration in KMT2D (lysine methyltransferase 2D) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Kabuki syndrome 1 | CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCA... | CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCA... |
Task1_train_17554 | Located on Chromosome 12, this mutation impacts KMT2D (lysine methyltransferase 2D). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; See cases | CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCA... | CCCGCGCTGACACTAAGCTCCCCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCA... |
Task1_train_17555 | A variant has been detected on Chromosome 12 in KMT2D (lysine methyltransferase 2D). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Inborn genetic diseases | CCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATC... | CCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATC... |
Task1_train_17556 | This variant lies on Chromosome 12 and affects the gene KMT2D (lysine methyltransferase 2D). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Kabuki syndrome | CCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATC... | CCCACCCCCACATCACCACCCCTTCCCACCAGACCAGCAGCAGTTTGGTGACTGAGGGAAAGTGGGAGCTCCGGGCCACACCCTGCCTCACTAGGTATGGGCATGCCACTCAGGGATAGCCCTCACCCTACCCCCCACCCAACCCGTCCAGGGGCTGGAGGGCAAACAGGCTCATGATGAGGTTGGGAAAACAGGAGGGAGATATCCTGGTCCTAGGTTTAGCTCCCTCCTGCCCCCATGTCCAGATGGAGAAGGAAGTCCTAGAGCAACTAGGGGCCAGTCATCCCCAATCTTCATCATCATTTGCCTCAACCACCATC... |
Task1_train_17557 | Given this context: Chromosome 12, gene KMT2D (lysine methyltransferase 2D) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Kabuki syndrome | CCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACA... | CCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACA... |
Task1_train_17558 | A mutation in KMT2D (lysine methyltransferase 2D), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Kabuki syndrome 1 | CCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACA... | CCCTTGCTCCTTGGTTGAGTGCAGACTATGCACCACAATGGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACA... |
Task1_train_17559 | Here is a genetic alteration in KMT2D (lysine methyltransferase 2D) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Kabuki syndrome | GGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATA... | GGCCCCTCTGCCAGCTCATACCTGCTCTTCGTAGATTTTCTCCCGCCGGTTGGCCACCTCGTTCCGAATGATGGTGCCAATGTACTCGATAACCATTGTGTGCTTTTCTAGGTCCTTGGCTGCATAGAGCCCCAGGCCCTGGATACGGGAGCGAGCCAGGTACACGTTGTTCTTCCATTCGGTGCGCAGCCGCCGGTACTGAGATGACTTGGAGTGCACAAACTGCTTGCTGTAGGGGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATA... |
Task1_train_17560 | This alteration in KMT2D (lysine methyltransferase 2D) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Kabuki syndrome | GGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGG... | GGGTGTTGGTCTCGCCTGTGAAGGTGCTCTGATATGCCTTAGACATGCTGGTGCTGTTCAGGGTATGGGGCCTGGGAGGTGATATAATCCATGACAAGACAGCTCTCCCTCAGACCAAGTACATACCACCCACCTCCTCTGCCACCTCCTGGGATGTGCAACACACCAGTTAGGGGCGTGTGCTGCTGGCAAGCACTGGAAGTGCAGCCTTGGGAAAGGAGTAGAGGCAACTGGGTCTCAGCTCTGGTGAGGAAGCAACTAGCTACAGGGACCCTTCTGACACCCTGGGTGGCACAGAGAGCCCAGGGTGAGGGGTGGGG... |
Task1_train_17561 | This alteration occurs within gene KMT2D (lysine methyltransferase 2D) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Kabuki syndrome | TATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCAC... | TATCTGAGGTTTGGGAGAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCAC... |
Task1_train_17562 | Here’s a variant in KMT2D (lysine methyltransferase 2D) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Kabuki syndrome | GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGC... | GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGC... |
Task1_train_17563 | With a mutation on Chromosome 12 in gene KMT2D (lysine methyltransferase 2D), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Kabuki syndrome 1 | GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGC... | GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGC... |
Task1_train_17564 | This variant affects the gene KMT2D (lysine methyltransferase 2D) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Inborn genetic diseases | GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGC... | GAATCACAGGCCCTCCCCCAGAAGTAAAACAGGAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGC... |
Task1_train_17565 | Given this variant in gene KMT2D (lysine methyltransferase 2D) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Kabuki syndrome 1 | GAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGA... | GAGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGA... |
Task1_train_17566 | This is a variant in KMT2D (lysine methyltransferase 2D), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Kabuki syndrome 1 | AGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGAT... | AGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGAT... |
Task1_train_17567 | This sequence change occurs on Chromosome 12, altering KMT2D (lysine methyltransferase 2D). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Kabuki syndrome | AGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGAT... | AGAAGAAAGAGGTGACCAAGTCCCTTATATATTTCATAAAATTTCACCAGTTTACCCATTACCTCCCCAGGGTGCCCAAGATAATTCTGTCCTATATCCCAAGTGCATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGAT... |
Task1_train_17568 | An alteration has been detected in KMT2D (lysine methyltransferase 2D) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Kabuki syndrome | CATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCC... | CATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCC... |
Task1_train_17569 | A change on Chromosome 12 affects gene KMT2D (lysine methyltransferase 2D). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | CATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCC... | CATCTGAGCAGGTTGGGAGAGGAGGAAAAGGATACCCTACTAATACCTGCATGCCCTCTAATTAGGAAGTCTAAGAGTGATTCCCCATTTTCTCCACGGGAACTCTGATCTGTATCCTAAATCCTCATAATGGGACCAGAGGATCCCTGTCAACACCCACACCCACATCCCTTGGCTCCAGCATCACAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCC... |
Task1_train_17570 | A change on Chromosome 12 affects gene KMT2D (lysine methyltransferase 2D). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Kabuki syndrome | CAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGC... | CAAGCTCACCGTTTGTAGTGTGTGAGGATTTTAGGCTCTGATCGGGCACAGCCAGTGGGGTTGATCATGAGTGGCAGCTCCATAAGGGGGTGGCGCCCATAGCGGAATAAATAGTTTTGACAGCTCTCCACCCCGGGCAGCTGTGGGCACAGTTCATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGC... |
Task1_train_17571 | Gene KMT2D (lysine methyltransferase 2D) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Kabuki syndrome 1 | ATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTT... | ATACTCACCTTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTT... |
Task1_train_17572 | Gene KMT2D (lysine methyltransferase 2D), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Kabuki syndrome | TTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCC... | TTAGCCTGAGTTTTTTTGGGGTTAGGCCAAAGTTCTCAGTGCCCGCCAAGCCCCCCAGCTCCCAGCCCCTTCCTTACTGATTCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCC... |
Task1_train_17573 | A sequence alteration has been identified in KMT2D (lysine methyltransferase 2D) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Kabuki syndrome 1 | TCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCA... | TCAGCTATGCGAAGCACGGCATGCACCGTCAGCCCAAAGAGCTCCTCGCCCTTCAGATACTCAGGGAAGAGTCGCAGCATGTCAGCCTCTTTTCTCATGGCAGCCACAGGCTCAATGATGCGATTCCACACGGCTAAGAAGCAGGGAAGAGAGCAGTCCTCAGAGGCAACTTCTGCTCACTGACCTCCAGTCCCTAACCCCAATCCAGAACTGCAGTTTTCTGAGGCCTTCAAGCCTCCCTATCATGAAGTTGTGTTGGTCTTCCAGATCCTCTCTTGGCCTCCTAGTCTCACTCTCTCTTAAGAAGCAGGAGGTTTCCA... |
Task1_train_17574 | The variant affects gene KMT2D (lysine methyltransferase 2D), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Kabuki syndrome 1 | CGCTGCATGAGGAGTGCCTGTAGCTGCTGCTGCTGCTGAGGACTTAAGTGCCGCAGCTGTGGGTTTTTGGCCAGGACTCCTTGGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGA... | CGCTGCATGAGGAGTGCCTGTAGCTGCTGCTGCTGCTGAGGACTTAAGTGCCGCAGCTGTGGGTTTTTGGCCAGGACTCCTTGGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGA... |
Task1_train_17575 | A mutation on Chromosome 12 affecting KMT2D (lysine methyltransferase 2D) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | GGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTC... | GGAGCTGTGCTCGAAGCTGACCCACCGTAGGCATGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTC... |
Task1_train_17576 | This mutation is located in gene KMT2D (lysine methyltransferase 2D) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | TGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGA... | TGATTCCAACCCCAGGCAGACCCTGCCCAGACTGGAGGACAGGTCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGA... |
Task1_train_17577 | Located on Chromosome 12, this mutation impacts KMT2D (lysine methyltransferase 2D). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | TCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGAGGCTGGGGCTGGGGTTGGACAAGCAGGAGTTGTGAGTCCCCAG... | TCCTGGTTTGGGAGGTTGTGGCCCTGTATTATTTTGCATGGGCCGCTCTAGCATGGGCTGTTGGGGGCCCAGAAGGTTCTGGGTCATGGACCCAGGCTGATCCCCTAAGGAAACAGAGGGCTGAGCCAGCAGGTGGGGCACAGATGAGGCCTCAGAAGATGATCCACTGCCTAGCTGCCCATGGCTTCCTCCACCTGCTGTGTGGAGCAGGCTAACTTGCTGCTGCTGTTGTCCTGGAAGCCTCAGAGGTGGCTGCAGCTGCAGAGAGCTGGGCTGAGGCTGGGGCTGGGGTTGGACAAGCAGGAGTTGTGAGTCCCCAG... |
Task1_train_17578 | Here’s a variant in KMT2D (lysine methyltransferase 2D) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lynch syndrome 5 | CCCCACCACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCC... | CCCCACCACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCC... |
Task1_train_17579 | Here’s a variant in KMT2D (lysine methyltransferase 2D) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Kabuki syndrome 1 | CCCCACCACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCC... | CCCCACCACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCC... |
Task1_train_17580 | Gene KMT2D (lysine methyltransferase 2D), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCC... | CACCCCACAACCCCATCCCAGGACCTCACCAGGCCGATATGGTTTACGCTTGCGTTTTTTGCTTTCCTCGGTCTCCTCTTTGCCAGGCTCCACATCAGGGCTGACGGGGCCCTCCAGTTTAATTTCGCACTCCATGTGCTCCACACCACCTGCGTATGGTGACAGAAGAGATGGAGGCAAATCAGAACTATAGGCCCTTTTAACCTTGTCATCCTGCCACTGAGAGAGCTGAATACCTTGCCTCAGAGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCC... |
Task1_train_17581 | This variant affects the gene KMT2D (lysine methyltransferase 2D) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Kabuki syndrome 1 | AGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACAC... | AGCCACTTAGACGAGACAGCAGTGCTTAAGGGTAACTGAGTGGCAATGTAGCCCCCACCCAACATCCCACTCCCAGAGTCACGCTCCCCCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACAC... |
Task1_train_17582 | A variant on Chromosome 12 in gene KMT2D (lysine methyltransferase 2D) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAA... | CCTACTCTGCCGCTCCCTAAGATTCCCCAAGCTAACCTTCACCCTTGAGCAGCTCATCGGTGTCCAGGTCCCCATCCTTCTTGTCATCAGGGCCAAGGGCATCTGAGGGCTCAGAACCCTCCAATCCTGCCTCGCCTGGGAGGCCAAGCCGTCCTCGCCGTTGGCGCCGCTTGTGCAGTGGTGACATGGTCAGGTTACGCAGCAAGGCCATGCCAGTTTCTGTCAGCCACACACCTTCGAAGCGAAAGTACTGGGGCTCTGCATAAGAGGAAAGAGTATGTGATCCCTGGATGGAAGCCCCAGGGAAACCAGAACTGCAA... |
Task1_train_17583 | With a mutation on Chromosome 12 in gene KMT2D (lysine methyltransferase 2D), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | TGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCA... | TGTCCCAAAGCAAGGTACCCCTGCTCTGACTCCTCCCCCTACCCAGCAGCTGGTACTCACCCACAGGCTTTACCACGTAGGGCTGGCAGGAGACACAGTCAAAGCCTTCATCGGCTGCCTGCTCCACATCGTCCTCTGTGAAGAGGCTCTCACAGCCTGCATGCATCCACCTGGAGAACAGAGACTGGAGGAAATAAGCTCAGGCAATGCGAGGCTGGCAACAGGGCCAAAGTGAGGAGAAAGGGATGTTCTCACCGTTCACAGTGGCGGCACTGGATTAGTAGGTCCTCTTCTACGTAAGGAGCATGACAGATAGGGCA... |
Task1_train_17584 | Mutation context: Chromosome 12, Gene KMT2D (lysine methyltransferase 2D). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Kabuki syndrome 1 | GGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTC... | GGGGGTCCAGGCAGTATGTGTGGTAGCTAATATCACAGTCATCACAGAGCAGCAGGCGTGAGGGGTCGGAGGCCTGGCCACACACCTCACACACAATACACTCCACACAACGCCAGCCCTTGAGCAGCATCACCTTGGTGATCTGGGGCAGAAGATGGGAACTTCTCAGGGTGTGAGGTGGAAAAGAGGTAGAACTTCTTTTTATTTTTTTTTGGAGATGGAGTTTTGCTCTTGTTCCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCTCAGGTACAAGTGATTCTCTTGTCTCAGCCTC... |
Task1_train_17585 | A variant was discovered in gene DHH (desert hedgehog signaling molecule), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; 46,XY sex reversal 7 | CTGCTTCCAAATATTGCCTTTATCAAGCACTACCTGGAACCCTATTATGCTTTCACCTCCTTGACAATTGAACTCAAGGGTCATGAGGGTGAGGGACATGAGGCGGCAACTTTGATACATAAGGAAGTCTGGGCTACTACAGGTATACTAGTAGGGCATCTGCAGCTTCCAGGAACCACAGAGCTAAACTAGGCAGGAGTGATGTAAAAGTGCCATGGTTTGGAACGACTTGCCCAAGGAGAAGCAGGTGGACTCCTTGACAGCTCCTGATATGTGTGACTCAGCGCTGGCAGCTTAACAAGGCCCACCCATCATCTCTC... | CTGCTTCCAAATATTGCCTTTATCAAGCACTACCTGGAACCCTATTATGCTTTCACCTCCTTGACAATTGAACTCAAGGGTCATGAGGGTGAGGGACATGAGGCGGCAACTTTGATACATAAGGAAGTCTGGGCTACTACAGGTATACTAGTAGGGCATCTGCAGCTTCCAGGAACCACAGAGCTAAACTAGGCAGGAGTGATGTAAAAGTGCCATGGTTTGGAACGACTTGCCCAAGGAGAAGCAGGTGGACTCCTTGACAGCTCCTGATATGTGTGACTCAGCGCTGGCAGCTTAACAAGGCCCACCCATCATCTCTC... |
Task1_train_17586 | Given a variant located on Chromosome 12 and affecting DHH (desert hedgehog signaling molecule), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | CTATAAACAGAGAAGAGGTGTGCACAGTCTTTCCCACCTGGGACAACCCTGGACCCTTCAGCCGCAGGAGCGAAATGCTGGTCCTCTCTGGATGGGAGACGGAAACAGCAGCCTGGAAAAGGGTACGACTCTTGTGGGCTCTGTTGCTTATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCT... | CTATAAACAGAGAAGAGGTGTGCACAGTCTTTCCCACCTGGGACAACCCTGGACCCTTCAGCCGCAGGAGCGAAATGCTGGTCCTCTCTGGATGGGAGACGGAAACAGCAGCCTGGAAAAGGGTACGACTCTTGTGGGCTCTGTTGCTTATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCT... |
Task1_train_17587 | The gene DHH (desert hedgehog signaling molecule) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; 46,XY sex reversal 7 | CACCTGGGACAACCCTGGACCCTTCAGCCGCAGGAGCGAAATGCTGGTCCTCTCTGGATGGGAGACGGAAACAGCAGCCTGGAAAAGGGTACGACTCTTGTGGGCTCTGTTGCTTATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCA... | CACCTGGGACAACCCTGGACCCTTCAGCCGCAGGAGCGAAATGCTGGTCCTCTCTGGATGGGAGACGGAAACAGCAGCCTGGAAAAGGGTACGACTCTTGTGGGCTCTGTTGCTTATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCA... |
Task1_train_17588 | The gene DHH (desert hedgehog signaling molecule) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | TATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCAGATGTCAGACTGGCTGGCTGTGTCAGACAGTGTTAATGCCATGCCCCAGCCCCTCACCTTGGCAAGCTGGGCAAGGGAATCATTATATTACAATTTATAAATAAGAAATAAAAT... | TATGGGTTGGGATGCCCCTTCTGAAGGGAGGAAAAGGGTCCCAAAGACCCTGCTGAGGAAGGAGGGGGAGCCGGAAGTAAGCTGTTAACTCAGGTTGGCCACCTTTATCCCCCTCTCTGGAGGTGAATCACCCTCTGAATGGAAGTGTTTTCCAGTAAGCTCCTGAAAGCCTTCCCTTTATTAGCCCACCTTGCAGGAAAACGTCAGATGTCAGACTGGCTGGCTGTGTCAGACAGTGTTAATGCCATGCCCCAGCCCCTCACCTTGGCAAGCTGGGCAAGGGAATCATTATATTACAATTTATAAATAAGAAATAAAAT... |
Task1_train_17589 | The following genetic variant occurs in DHH (desert hedgehog signaling molecule) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | GGACACCGCGGGAGGAGGCGCAGAGGGACAGCTTCCTTTTTTTCTTTCCCCTCCGACCTCTCACCTCGGACTTGGTTTTCTCCTAACAGAAAGACACTTTTCCCCTCTCCTCTAGTCTCCTCCACCCCGCAGAGTTGGGGTTGGGTGGGGGGAAAACAGGAAAAGTGGTAGCTCCTTCCAACTTTGTCGTTTCGTCCCCTAAGGAGGCCCCGAGGCCCTGACCTGCGGGGGCAGCAGCCCAGTGCAGAGCCAACTCAATGGAGGCCTTTTGCAGCCAGGGTGTGGGAGATAAGTAAGACTGAGGGGGCTCCCAGGCCTGC... | GGACACCGCGGGAGGAGGCGCAGAGGGACAGCTTCCTTTTTTTCTTTCCCCTCCGACCTCTCACCTCGGACTTGGTTTTCTCCTAACAGAAAGACACTTTTCCCCTCTCCTCTAGTCTCCTCCACCCCGCAGAGTTGGGGTTGGGTGGGGGGAAAACAGGAAAAGTGGTAGCTCCTTCCAACTTTGTCGTTTCGTCCCCTAAGGAGGCCCCGAGGCCCTGACCTGCGGGGGCAGCAGCCCAGTGCAGAGCCAACTCAATGGAGGCCTTTTGCAGCCAGGGTGTGGGAGATAAGTAAGACTGAGGGGGCTCCCAGGCCTGC... |
Task1_train_17590 | The gene TUBA1A (tubulin alpha 1a) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Tubulinopathy | GTGAGACCCTGTCTCAAAAAATATATATATATATATGTGTATATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTC... | GTGAGACCCTGTCTCAAAAAATATATATATATATATGTGTATATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTC... |
Task1_train_17591 | Consider a variant on Chromosome 12 in gene TUBA1A (tubulin alpha 1a). Determine its clinical classification and disease relevance. | Pathogenic; Tubulinopathy | TATATATATATATATGTGTATATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTG... | TATATATATATATATGTGTATATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTG... |
Task1_train_17592 | This alteration in TUBA1A (tubulin alpha 1a) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Tubulinopathy | TATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGG... | TATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGG... |
Task1_train_17593 | This mutation is located in gene TUBA1A (tubulin alpha 1a) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Lissencephaly due to TUBA1A mutation | TATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGG... | TATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGG... |
Task1_train_17594 | This variant impacts the gene TUBA1A (tubulin alpha 1a) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Tubulinopathy | ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGC... | ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGC... |
Task1_train_17595 | A variant found in Chromosome 12 affects TUBA1A (tubulin alpha 1a). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Lissencephaly due to TUBA1A mutation | ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGC... | ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGC... |
Task1_train_17596 | This is a variant in TUBA1A (tubulin alpha 1a), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGC... | ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGC... |
Task1_train_17597 | A variant was discovered in gene TUBA1A (tubulin alpha 1a), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Tubulinopathy-associated dysgyria | ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGC... | ATATATATATATAAAATAACATTTCCCATTATAACATAGTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGC... |
Task1_train_17598 | With a mutation on Chromosome 12 in gene TUBA1A (tubulin alpha 1a), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Lissencephaly due to TUBA1A mutation | TTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAG... | TTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAG... |
Task1_train_17599 | Consider this mutation in TUBA1A (tubulin alpha 1a) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Tubulinopathy | TTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAG... | TTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCATTGCAACCTCCACCACCCGGGTTCAAGCGATTCTGTCACCTCAGCCTCCCGAGCAGCTGGGATTACAGGTGTCCGCCACCACACCCAGCTAATTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTGGAGAGGCTAGTCTCGAACTCCTGACCTCAAATGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAGGCGTGAGGCACCGCACCCAGCCCATCTTGATGTATTTCTTTTTTTGAG... |
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