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_14800 | This variant lies on Chromosome 11 and affects the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Costello syndrome | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... |
Task1_train_14801 | Mutation context: Chromosome 11, Gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Large congenital melanocytic nevus | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... |
Task1_train_14802 | Gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Thyroid cancer, nonmedullary, 2 | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... |
Task1_train_14803 | This alteration in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Epidermal nevus | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... |
Task1_train_14804 | Gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Malignant tumor of urinary bladder | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... |
Task1_train_14805 | This sequence change occurs on Chromosome 11, altering HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Costello syndrome | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... |
Task1_train_14806 | This variant impacts the gene LRRC56 (leucine rich repeat containing 56) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Ciliary dyskinesia, primary, 39 | TGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAATCACAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGACTCCATCTCAAAAAAAAAATTAAAAATTAAAAAATTTCAAAGGAACTTGTCATAAATAAAAGACTGAAAGGAAAAACAAACTGAATTATTGGCACTGAAACATATCCTAATAAAGTTACTGGCATGAAGATAAAGGTAAAAAGTTGGAGCAGC... | TGAAACCCCGTATCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAATCACAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAGTGACAGAGACTCCATCTCAAAAAAAAAATTAAAAATTAAAAAATTTCAAAGGAACTTGTCATAAATAAAAGACTGAAAGGAAAAACAAACTGAATTATTGGCACTGAAACATATCCTAATAAAGTTACTGGCATGAAGATAAAGGTAAAAAGTTGGAGCAGC... |
Task1_train_14807 | This alteration occurs within gene DEAF1 (DEAF1 transcription factor) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Intellectual disability, autosomal dominant 24 | CAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCGCATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACATGGTGAAACGCTGTCTCTACTAAAAATACCAAAAAAAAATTAGCCGGGCATGGTGGCAGGCGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGTGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCGAGATCATGCCACTGCCCTCCAGCCTGGGGGATGGAGCGAGACTCCACCTCAAAAAAAAAAAAAAATCAGTTCTAACTCTATTTT... | CAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCGCATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACATGGTGAAACGCTGTCTCTACTAAAAATACCAAAAAAAAATTAGCCGGGCATGGTGGCAGGCGCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACGGTGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCGAGATCATGCCACTGCCCTCCAGCCTGGGGGATGGAGCGAGACTCCACCTCAAAAAAAAAAAAAAATCAGTTCTAACTCTATTTT... |
Task1_train_14808 | This is a variant in DEAF1 (DEAF1 transcription factor), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual disability, autosomal dominant 24 | ACCATATCCCTTGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTA... | ACCATATCCCTTGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTA... |
Task1_train_14809 | Here is a genetic alteration in DEAF1 (DEAF1 transcription factor) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | ATATCCCTTGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTAAAA... | ATATCCCTTGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTAAAA... |
Task1_train_14810 | The gene DEAF1 (DEAF1 transcription factor) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | TGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTAAAATTTGATGA... | TGACCGGGAACTGCAAGGAGTGGGAACCGTTTTCTTGGTCACAACCACCCACAATGGAGCCTCCACCATAGGGAGCTGGGGGCAGAAAGGGAGGGAAGGAGCTGGTCGTAGCTCAAACGTCACAATCCTCACTGCCCTTTCCAAGACTTACTACATTTTCTTGGATGTTTATTTGCTGTACTCCCCTAGGACAATTTCTGGAGACCTTAAGGGGTTATTTTTTCACAATTTTCACTAGTTATTTCTCTGGAGAGTTGGTCCACTGAGCTCATCACACCACCACTCCCCAAGCGGAAGCCAAAAGTTCTAAAATTTGATGA... |
Task1_train_14811 | Mutation context: Chromosome 11, Gene DEAF1 (DEAF1 transcription factor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CCCAGCCCCACCAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTG... | CCCAGCCCCACCAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTG... |
Task1_train_14812 | A variant affecting Chromosome 11, within the gene DEAF1 (DEAF1 transcription factor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCG... | CAAGTCATCCTGTTCCAGACACGCTGGCCACTTACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCG... |
Task1_train_14813 | A variant found in Chromosome 11 affects DEAF1 (DEAF1 transcription factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Intellectual disability, autosomal dominant 24 | TACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAA... | TACTAAGGTCATGTCGTCGCAGCAGGCAGCACAGGTGCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAA... |
Task1_train_14814 | A mutation on Chromosome 11 affecting DEAF1 (DEAF1 transcription factor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Intellectual disability, autosomal dominant 24 | GCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTA... | GCAAGAGGCAGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTA... |
Task1_train_14815 | Located on Chromosome 11, this mutation impacts DEAF1 (DEAF1 transcription factor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autism, susceptiblity to | AGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTA... | AGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTA... |
Task1_train_14816 | This alteration occurs within gene DEAF1 (DEAF1 transcription factor) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Intellectual disability, autosomal dominant 24 | AGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTA... | AGCGTGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTA... |
Task1_train_14817 | This mutation is located in gene DEAF1 (DEAF1 transcription factor) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Intellectual disability, autosomal dominant 24 | TGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTT... | TGAGGGTTTAAGATCCCATCCTGAGATGTGAAAAGAACCACCATGCATTAGCAAGTCAGCCCCTAAATGTCAATCATTCAATAATAGAAGATTTCAACCACTTTTACCACTTACCTACCATTCATAAATATAAAAATTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGTTGGGTTGCCCAGGCTGGAGTGCAGTGGCACGTTCTCGGCTCAGTGCAACCTCTGCCTCCCCGGCGCAAGCAATTCTCATGCCTCGGCCTCCCAAGAAGCTGGGATTATAGGTTTGCACCACCACACCCAGCTAATTTTTGTATTTT... |
Task1_train_14818 | Consider this mutation in DEAF1 (DEAF1 transcription factor) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Intellectual disability, autosomal dominant 24 | GTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATC... | GTAATCCCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATC... |
Task1_train_14819 | Gene DEAF1 (DEAF1 transcription factor), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; See cases | CCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGA... | CCAGCACTTTGAGAGGCGAGGCAGGTGGCTCACTTGAGGTCGGGAGTTCGAGACTAGCCTGGCCAGCGTGGTGAAACCCTGTCCCTATTAAAAAATACAAAAAAAATAGGCCGGGTATTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGACTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATTAAAAAAAAAAAAAAAAAAGCCAGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATCCTCTGA... |
Task1_train_14820 | Mutation context: Chromosome 11, Gene LOC126861110, TALDO1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:762588-763787| transaldolase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Deficiency of transaldolase | GGAGGATCGCTTGAGCCTGGGAAGTTGAGGTTCCAGTAGCTATGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAGAAAAACCAAACCAAACATATGTACGTTCAGAGTGGAAGAGACAGAAAATGTATAAAACAAAGTAAAACTCCTCTATGATGTTCTCACCCAGAAGCAGCCAATGCTATACTCAAATAATTCGCATCAGGAAGAGGTGTTTTGTTTCCACATCTGTGTGTCTGCATGTTCTACCACCTGCCATCACTGACCTGCTCTGAGATAGCATCTCACTTTTTCACCACGGCTG... | GGAGGATCGCTTGAGCCTGGGAAGTTGAGGTTCCAGTAGCTATGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAGAAAAACCAAACCAAACATATGTACGTTCAGAGTGGAAGAGACAGAAAATGTATAAAACAAAGTAAAACTCCTCTATGATGTTCTCACCCAGAAGCAGCCAATGCTATACTCAAATAATTCGCATCAGGAAGAGGTGTTTTGTTTCCACATCTGTGTGTCTGCATGTTCTACCACCTGCCATCACTGACCTGCTCTGAGATAGCATCTCACTTTTTCACCACGGCTG... |
Task1_train_14821 | Gene TALDO1 (transaldolase 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Deficiency of transaldolase | AAGCTATCTTTCCACCTCAGTCCCCCAAGTGGCTGGGATGACAAGCACACATACCACTCCTGGGTAATTTCACCACGTTCCCCAGGCTGGTCTCGAACCCCTGGGCTCAAGAGATCTCTACCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGCCTGGCCTCATTTGTGTGTTTTTTTGTTTTTTTTTGTTTTTGAGACGGAGTTTCATTCTCGTCCATGCTGGAGTGCAATGGTGCTATCTCAGCTCACTGCAACCTCCACCTCTGGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCGGAGTA... | AAGCTATCTTTCCACCTCAGTCCCCCAAGTGGCTGGGATGACAAGCACACATACCACTCCTGGGTAATTTCACCACGTTCCCCAGGCTGGTCTCGAACCCCTGGGCTCAAGAGATCTCTACCCATCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCATTGTGCCTGGCCTCATTTGTGTGTTTTTTTGTTTTTTTTTGTTTTTGAGACGGAGTTTCATTCTCGTCCATGCTGGAGTGCAATGGTGCTATCTCAGCTCACTGCAACCTCCACCTCTGGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCGGAGTA... |
Task1_train_14822 | A variant affecting Chromosome 11, within the gene TALDO1 (transaldolase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Deficiency of transaldolase | GACACCTGGTCAGTTTCCATCTCTTGAGCTGTGATGTATATTGCTGTGGTCGGTTTCCATTTCTCGGGCTGTGATGTATGCTGCTGCTCTGAACACATCTGCTGCTATGAACACATCTGCTGCTCTGAACACAGATGTGCAAGTTTTGTCCTGGACATGTGTTTTTGTTTCTCGTGGGCATATGCCTAGGAGTGGAGTCTCTGGGTGACTGCTGGAGGAACTGCAGGCTGTTTCCCAACTCAGCTGTGCCATCTGCTGTCCCCCTCGAACACCCCCGTGTGGCCATGTGGCAGAGGCGCCTGGGGAGGGAACTTGTGTCT... | GACACCTGGTCAGTTTCCATCTCTTGAGCTGTGATGTATATTGCTGTGGTCGGTTTCCATTTCTCGGGCTGTGATGTATGCTGCTGCTCTGAACACATCTGCTGCTATGAACACATCTGCTGCTCTGAACACAGATGTGCAAGTTTTGTCCTGGACATGTGTTTTTGTTTCTCGTGGGCATATGCCTAGGAGTGGAGTCTCTGGGTGACTGCTGGAGGAACTGCAGGCTGTTTCCCAACTCAGCTGTGCCATCTGCTGTCCCCCTCGAACACCCCCGTGTGGCCATGTGGCAGAGGCGCCTGGGGAGGGAACTTGTGTCT... |
Task1_train_14823 | This gene mutation involves SLC25A22 (solute carrier family 25 member 22) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Early myoclonic encephalopathy | GGAGAGCTCGGGAGTTTCCCACAATGCACTGCTCCCGGCGCAGGAGGGCGGGGAGGGGGAGGGGCGACCGGGCCCCGCCCCGCCGGGAACCGTGGGATCCGCAAACCCAGCTCCGCCTTAGATCCAGGGGTAGAAACTTAGGGTCCGAGAGAGCAACTGCGGGGTCCAAGTCCCATCTGGGACTGCCAGAGGCAGGAGGCGGGTCCCGCTCAGCATCCCCTCTAGGCCAGGGTGCCCCTTGGTCGGTGGGTGACGGGTCGGTGGGTGAGGGGTCGGTGGGTGGGTGCGCAGGCCTAGCCCTGCAGTCTGAAGGGAGCCAG... | GGAGAGCTCGGGAGTTTCCCACAATGCACTGCTCCCGGCGCAGGAGGGCGGGGAGGGGGAGGGGCGACCGGGCCCCGCCCCGCCGGGAACCGTGGGATCCGCAAACCCAGCTCCGCCTTAGATCCAGGGGTAGAAACTTAGGGTCCGAGAGAGCAACTGCGGGGTCCAAGTCCCATCTGGGACTGCCAGAGGCAGGAGGCGGGTCCCGCTCAGCATCCCCTCTAGGCCAGGGTGCCCCTTGGTCGGTGGGTGACGGGTCGGTGGGTGAGGGGTCGGTGGGTGGGTGCGCAGGCCTAGCCCTGCAGTCTGAAGGGAGCCAG... |
Task1_train_14824 | An alteration has been detected in SLC25A22 (solute carrier family 25 member 22) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Developmental and epileptic encephalopathy, 3 | GCGGGTCCCGCTCAGCATCCCCTCTAGGCCAGGGTGCCCCTTGGTCGGTGGGTGACGGGTCGGTGGGTGAGGGGTCGGTGGGTGGGTGCGCAGGCCTAGCCCTGCAGTCTGAAGGGAGCCAGTTATGGGAAGAGGGGACTGCCCTCCCCCGCCCCCAAACAGACCCCCAGACAGACAGCAGCATCTACTTAGAATATTTATTTATTCTCTGACATGACAAGACACAAAAAGTTACAACTTCTTAAAACTCTTCAAAAGAAAAAAATATAATTCTGTAAGCAGCAGCAGCAGCTTCCAAGGTTCTGATGTGACGGGAGGGG... | GCGGGTCCCGCTCAGCATCCCCTCTAGGCCAGGGTGCCCCTTGGTCGGTGGGTGACGGGTCGGTGGGTGAGGGGTCGGTGGGTGGGTGCGCAGGCCTAGCCCTGCAGTCTGAAGGGAGCCAGTTATGGGAAGAGGGGACTGCCCTCCCCCGCCCCCAAACAGACCCCCAGACAGACAGCAGCATCTACTTAGAATATTTATTTATTCTCTGACATGACAAGACACAAAAAGTTACAACTTCTTAAAACTCTTCAAAAGAAAAAAATATAATTCTGTAAGCAGCAGCAGCAGCTTCCAAGGTTCTGATGTGACGGGAGGGG... |
Task1_train_14825 | A mutation found in SLC25A22 (solute carrier family 25 member 22) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy, 3 | AAAAAGGAGGGTGGGCCCTGAGAGGACTTGGGGGTGTGGCAGCTCCTGGCCCTCCCTCCAGAGCAGGGCAGGCACCCTCAGGCTCCACACTGGTCCCAATGCCCGCCCTGCTCCCTGGCCAATCCCAGGCCAGGGTGGAGGACTCAGGAGAGACCAAGCTGGGTAAGTTAGTTCCTGGACGGGGTCAACAGAGCCTGGGGCACACACAGCACACAGAGCGCCTGGCCACGGCGGGAAGGGGGGCAGTCCCCAGCAGCCCCATCCCCAAGGGCCAGGCCAGATCCCCACAACACACACACGCATGCACACACACATACACA... | AAAAAGGAGGGTGGGCCCTGAGAGGACTTGGGGGTGTGGCAGCTCCTGGCCCTCCCTCCAGAGCAGGGCAGGCACCCTCAGGCTCCACACTGGTCCCAATGCCCGCCCTGCTCCCTGGCCAATCCCAGGCCAGGGTGGAGGACTCAGGAGAGACCAAGCTGGGTAAGTTAGTTCCTGGACGGGGTCAACAGAGCCTGGGGCACACACAGCACACAGAGCGCCTGGCCACGGCGGGAAGGGGGGCAGTCCCCAGCAGCCCCATCCCCAAGGGCCAGGCCAGATCCCCACAACACACACACGCATGCACACACACATACACA... |
Task1_train_14826 | Gene PIDD1 (p53-induced death domain protein 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | ATGTTGCTATAGAAACCCTGCAGCCCCAGCCGGGCCCCGGGCTGTGAGCCGTCACTGTCCCCCCTTCATAGTCAGGTGAACTGAGGCCACAGGCAAGCCAGGGAGACAGCAGGAGAGCAGAGACCACCCCACAGGAAGATACCGCTGCTTCCGAATCTGCAGGGGTAAAATCCTCCACCCAAGAAGCCGCCAGGCTCCTCCTACCCCCAAGAAAGGCAATGGGGGTGAGGCTCCGAGTCTGGCCGGCGGCTCCCCATTCAATCTCCCGCTGTCCCCGTCCTCTTGGGGCGGTGCTTTCTATCCTGCTGGCTGGAGGGTCC... | ATGTTGCTATAGAAACCCTGCAGCCCCAGCCGGGCCCCGGGCTGTGAGCCGTCACTGTCCCCCCTTCATAGTCAGGTGAACTGAGGCCACAGGCAAGCCAGGGAGACAGCAGGAGAGCAGAGACCACCCCACAGGAAGATACCGCTGCTTCCGAATCTGCAGGGGTAAAATCCTCCACCCAAGAAGCCGCCAGGCTCCTCCTACCCCCAAGAAAGGCAATGGGGGTGAGGCTCCGAGTCTGGCCGGCGGCTCCCCATTCAATCTCCCGCTGTCCCCGTCCTCTTGGGGCGGTGCTTTCTATCCTGCTGGCTGGAGGGTCC... |
Task1_train_14827 | This genomic variant is located on Chromosome 11, within the PIDD1 (p53-induced death domain protein 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | TGCGCTCGGAGGCCGGCTCAGGCCCCTGCCCTACTGCTGGGGCTCAGCCGACCGCTCCGTCCTCCGCCTGGCCACCGCGACTCCGGCCACGCACGTGTCCACAGATGTCCGGTGAACTCCCACGTGTGCGTCCCACACGGGTCGGCCTTTCTTCCTTGGGCTCGGGCCCCGGACACCCACCCTCGGGGACACGTATGTGCGGGGAGCGCGCCCGGAACCGTCGGGGCCGAGCACGGCGTCTCACGCCAGAGCAGCCGCGGATCGGAGCATCCGCTGGTCCAGGACCCCCCCTCCCGCCCGCCAGGCCACGTTGTTCGGGC... | TGCGCTCGGAGGCCGGCTCAGGCCCCTGCCCTACTGCTGGGGCTCAGCCGACCGCTCCGTCCTCCGCCTGGCCACCGCGACTCCGGCCACGCACGTGTCCACAGATGTCCGGTGAACTCCCACGTGTGCGTCCCACACGGGTCGGCCTTTCTTCCTTGGGCTCGGGCCCCGGACACCCACCCTCGGGGACACGTATGTGCGGGGAGCGCGCCCGGAACCGTCGGGGCCGAGCACGGCGTCTCACGCCAGAGCAGCCGCGGATCGGAGCATCCGCTGGTCCAGGACCCCCCCTCCCGCCCGCCAGGCCACGTTGTTCGGGC... |
Task1_train_14828 | A variant was discovered on Chromosome 11, affecting PNPLA2 (patatin like domain 2, triacylglycerol lipase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neutral lipid storage myopathy | CACGGTGCCCTGTGGCCTGGCTCCCCGCTGCGGCCCACCGCGTTTGCACACTTCATGGGTGAGGGTGCTTCTGGGCTCTGGTGCCTGGGTCAGGAGTGGATGGGTCTCTGTGTGCTGGGCTGGCCTCGGCTCGCACCATCGGCTGCCATGAGGGAGTGATGTTTACAGCACACGACTTCAGGAGCCTGTGAGGACACCCAAGATGACAGGGGCACTCTGCTCAGCAGGAGCCTGTCCGGGGCTCACCCCTGCCCTCTTCCTCTGAACTTTGTCCTGGGAGGGAGGGGGCTGGACCACAGAAGTGAACCTCTCAGGTCCCA... | CACGGTGCCCTGTGGCCTGGCTCCCCGCTGCGGCCCACCGCGTTTGCACACTTCATGGGTGAGGGTGCTTCTGGGCTCTGGTGCCTGGGTCAGGAGTGGATGGGTCTCTGTGTGCTGGGCTGGCCTCGGCTCGCACCATCGGCTGCCATGAGGGAGTGATGTTTACAGCACACGACTTCAGGAGCCTGTGAGGACACCCAAGATGACAGGGGCACTCTGCTCAGCAGGAGCCTGTCCGGGGCTCACCCCTGCCCTCTTCCTCTGAACTTTGTCCTGGGAGGGAGGGGGCTGGACCACAGAAGTGAACCTCTCAGGTCCCA... |
Task1_train_14829 | Located on Chromosome 11, this mutation impacts PNPLA2 (patatin like domain 2, triacylglycerol lipase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neutral lipid storage myopathy | TGGTGCCTGGGTCAGGAGTGGATGGGTCTCTGTGTGCTGGGCTGGCCTCGGCTCGCACCATCGGCTGCCATGAGGGAGTGATGTTTACAGCACACGACTTCAGGAGCCTGTGAGGACACCCAAGATGACAGGGGCACTCTGCTCAGCAGGAGCCTGTCCGGGGCTCACCCCTGCCCTCTTCCTCTGAACTTTGTCCTGGGAGGGAGGGGGCTGGACCACAGAAGTGAACCTCTCAGGTCCCAATAACTAGAGCTATTATTGGGAACAGCCCCCTCCAGCCCCCTCCCTCTCATGGAGGCCTTCAGACAAGCGCCTCAGTC... | TGGTGCCTGGGTCAGGAGTGGATGGGTCTCTGTGTGCTGGGCTGGCCTCGGCTCGCACCATCGGCTGCCATGAGGGAGTGATGTTTACAGCACACGACTTCAGGAGCCTGTGAGGACACCCAAGATGACAGGGGCACTCTGCTCAGCAGGAGCCTGTCCGGGGCTCACCCCTGCCCTCTTCCTCTGAACTTTGTCCTGGGAGGGAGGGGGCTGGACCACAGAAGTGAACCTCTCAGGTCCCAATAACTAGAGCTATTATTGGGAACAGCCCCCTCCAGCCCCCTCCCTCTCATGGAGGCCTTCAGACAAGCGCCTCAGTC... |
Task1_train_14830 | Gene PNPLA2 (patatin like domain 2, triacylglycerol lipase) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neutral lipid storage myopathy | TCTGTATGCCATGGAACCCTGGACATGGGGCTATGAAGGAAGGTGGGTGTTGCTAAGCCCAGGAGCATGGGCCCCTAACCTTGGCCCTGTGCCCCAGGTGAGGCTGGTGCCAAGTTCATTGAGGTATCTAAAGAGGCCCGGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGA... | TCTGTATGCCATGGAACCCTGGACATGGGGCTATGAAGGAAGGTGGGTGTTGCTAAGCCCAGGAGCATGGGCCCCTAACCTTGGCCCTGTGCCCCAGGTGAGGCTGGTGCCAAGTTCATTGAGGTATCTAAAGAGGCCCGGAAGCGGTTCCTGGGCCCCCTGCACCCCTCCTTCAACCTGGTAAAGATCATCCGCAGTTTCCTGCTGAAGGTCCTGCCTGCTGATAGCCATGAGCATGCCAGTGGGCGCCTGGGCATCTCCCTGACCCGCGTGTCAGACGGCGAGAATGTCATTATATCCCACTTCAACTCCAAGGACGA... |
Task1_train_14831 | The gene CTSD (cathepsin D) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neuronal ceroid lipofuscinosis 10 | AGCAACCCCAGGGCAGCAGCCATGAAGATGGGAGCTGGACGGAGCTGACAAGCTGCAGAAGGAGGGAGATGGGGAGAGTGGGACAGGGCAGGGACAACAGGGTATGGCTGCCTCCTTGTACCTCTCTGCCCTCCCAGGCCTCAGTGCACAAAGCATCTGATGACAGGACATTTGTCTCCCCAGAAGCCCTGCCAGGCCCTGCAGAGTTCTGCCCAGCTCTGCTCAGATTTCAGGCATGCCAAACGCCAGGCATGTGTTTCCAAGCCTCCGTGCCACCCTGGGTAAATGTTCTTGCTCCAGGTGTCTGCCGTAGCATGGCT... | AGCAACCCCAGGGCAGCAGCCATGAAGATGGGAGCTGGACGGAGCTGACAAGCTGCAGAAGGAGGGAGATGGGGAGAGTGGGACAGGGCAGGGACAACAGGGTATGGCTGCCTCCTTGTACCTCTCTGCCCTCCCAGGCCTCAGTGCACAAAGCATCTGATGACAGGACATTTGTCTCCCCAGAAGCCCTGCCAGGCCCTGCAGAGTTCTGCCCAGCTCTGCTCAGATTTCAGGCATGCCAAACGCCAGGCATGTGTTTCCAAGCCTCCGTGCCACCCTGGGTAAATGTTCTTGCTCCAGGTGTCTGCCGTAGCATGGCT... |
Task1_train_14832 | This sequence variant lies in CTSD (cathepsin D) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Neuronal ceroid lipofuscinosis 10 | GTTCAGCCAGACATCAGGGTCAAGGCTAGCGGCAGACAAGGAAGTGAGTGCCAGGAGCTCCACTGGGGAGGACCCTGTCTGTCTGTCTGGAAGAAAAAACCAAAGAAGGCTTCCAGGAGGGAGTGATGGCACAATCTGGGAAGTTGGGATGGCTGGTTCTGGCCGCAGGGCCTCTGCACTGGCTGCTCCTGGGAACACCCTCCACCTGCATCCCCGAGCCACGTCCGCTCATCTCCCCCTCATCCAGACCACTGATGGCCAGCCAAGGTGCTCCTGGGCAGGAGCGCACTGCACTTCCTAGGACCTGCAACCCATGTCGC... | GTTCAGCCAGACATCAGGGTCAAGGCTAGCGGCAGACAAGGAAGTGAGTGCCAGGAGCTCCACTGGGGAGGACCCTGTCTGTCTGTCTGGAAGAAAAAACCAAAGAAGGCTTCCAGGAGGGAGTGATGGCACAATCTGGGAAGTTGGGATGGCTGGTTCTGGCCGCAGGGCCTCTGCACTGGCTGCTCCTGGGAACACCCTCCACCTGCATCCCCGAGCCACGTCCGCTCATCTCCCCCTCATCCAGACCACTGATGGCCAGCCAAGGTGCTCCTGGGCAGGAGCGCACTGCACTTCCTAGGACCTGCAACCCATGTCGC... |
Task1_train_14833 | An alteration has been detected in CTSD (cathepsin D) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | GGGACCAGGACCACATGTGCCCATCACCAGGTCTGGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCCACGACCCCTGACCTGGGTCCATTCTCATAGGAGGGAGGCCCAGCTGCCAAGGTCCCAGGACCCACAGCCTGGCCCGAGCCCCTCCCACTGGGAGACCCCGGCCAAACAGCTTTCTCTGTGCTGCCGCTTACTCCTCTGCAGAAGGGCGGCCAACCCCCGCCTCCCGGATGCCCTGAGGTCAGAGGTCAGGAGCTCTGGCACAGCAGCAGGGAGGGGGCAGCACTGAGAGGGGGTGCCTAGAAGGCTCCC... | GGGACCAGGACCACATGTGCCCATCACCAGGTCTGGGGACCGACGGGCCGACTGAACCAAGAGGAACTGCCACGACCCCTGACCTGGGTCCATTCTCATAGGAGGGAGGCCCAGCTGCCAAGGTCCCAGGACCCACAGCCTGGCCCGAGCCCCTCCCACTGGGAGACCCCGGCCAAACAGCTTTCTCTGTGCTGCCGCTTACTCCTCTGCAGAAGGGCGGCCAACCCCCGCCTCCCGGATGCCCTGAGGTCAGAGGTCAGGAGCTCTGGCACAGCAGCAGGGAGGGGGCAGCACTGAGAGGGGGTGCCTAGAAGGCTCCC... |
Task1_train_14834 | Chromosome 11 houses a mutation in gene TNNI2 (troponin I2, fast skeletal type). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Distal arthrogryposis type 2B1 | GCTATGCCTGGGACATTTTGGGAACACTTTCTCCTCTTACTTCTCACCCTGGGGAATTCCAAGACATTGTCCTTGAAGGAGGTGAGAGTAGGGGGAGGAGGTGAGAGTAGGGGGTGGGCGGGAGGGGGCTGTCATCAGGAGCCCTGAACCCCTCACCACCTACCTGATGGGCACAGGCATCACGGTGGCAAGGGCCTGGCCAACACCTCTGTCTTCCTCTCCCCACAGGCTCCAAGCTCAGGACCTCAGGATGGGAGAGTAAGTGGTACCCCTGTACCCCCATACAGTGACCCTGCCCACCTCCTGCCCTGTCCACCCCA... | GCTATGCCTGGGACATTTTGGGAACACTTTCTCCTCTTACTTCTCACCCTGGGGAATTCCAAGACATTGTCCTTGAAGGAGGTGAGAGTAGGGGGAGGAGGTGAGAGTAGGGGGTGGGCGGGAGGGGGCTGTCATCAGGAGCCCTGAACCCCTCACCACCTACCTGATGGGCACAGGCATCACGGTGGCAAGGGCCTGGCCAACACCTCTGTCTTCCTCTCCCCACAGGCTCCAAGCTCAGGACCTCAGGATGGGAGAGTAAGTGGTACCCCTGTACCCCCATACAGTGACCCTGCCCACCTCCTGCCCTGTCCACCCCA... |
Task1_train_14835 | Here is a mutation in TNNI2 (troponin I2, fast skeletal type) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Distal arthrogryposis type 2B1 | TTCTCCTCTTACTTCTCACCCTGGGGAATTCCAAGACATTGTCCTTGAAGGAGGTGAGAGTAGGGGGAGGAGGTGAGAGTAGGGGGTGGGCGGGAGGGGGCTGTCATCAGGAGCCCTGAACCCCTCACCACCTACCTGATGGGCACAGGCATCACGGTGGCAAGGGCCTGGCCAACACCTCTGTCTTCCTCTCCCCACAGGCTCCAAGCTCAGGACCTCAGGATGGGAGAGTAAGTGGTACCCCTGTACCCCCATACAGTGACCCTGCCCACCTCCTGCCCTGTCCACCCCATCACACACTCCGACCCCGCCAGCCATGG... | TTCTCCTCTTACTTCTCACCCTGGGGAATTCCAAGACATTGTCCTTGAAGGAGGTGAGAGTAGGGGGAGGAGGTGAGAGTAGGGGGTGGGCGGGAGGGGGCTGTCATCAGGAGCCCTGAACCCCTCACCACCTACCTGATGGGCACAGGCATCACGGTGGCAAGGGCCTGGCCAACACCTCTGTCTTCCTCTCCCCACAGGCTCCAAGCTCAGGACCTCAGGATGGGAGAGTAAGTGGTACCCCTGTACCCCCATACAGTGACCCTGCCCACCTCCTGCCCTGTCCACCCCATCACACACTCCGACCCCGCCAGCCATGG... |
Task1_train_14836 | This variant affects the gene TNNT3 (troponin T3, fast skeletal type) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Arthyrgryposis, distal, type 2B | TTAGTCTTTTTTTTTTGCCTTTCCATTTTCCGTTTTTTTTTTTTTTTTCACATACATACGTTTTTCATTTGCGTGGTGTCATCTGGCCTTCTTTCCCTTAGAGGCACCTTCTGGTGCTCCTGAGCTTAGGAAACCCTTTCCTGCTCCAGTTTCTGATTGATATTTAGTTCCACTTTCTTCTATGGTTTGTTGGAAAAAATTGTTGTTGTTTTAACTCTTTGCTGCATCTGGAATGTATTGGTGAGAGGAGGGGACTGCACACCCAGCCGGAGAGGGGGCCTCATTTCCCCTTCAGATTGCTTTCTTCCCAGCCCCCTCTC... | TTAGTCTTTTTTTTTTGCCTTTCCATTTTCCGTTTTTTTTTTTTTTTTCACATACATACGTTTTTCATTTGCGTGGTGTCATCTGGCCTTCTTTCCCTTAGAGGCACCTTCTGGTGCTCCTGAGCTTAGGAAACCCTTTCCTGCTCCAGTTTCTGATTGATATTTAGTTCCACTTTCTTCTATGGTTTGTTGGAAAAAATTGTTGTTGTTTTAACTCTTTGCTGCATCTGGAATGTATTGGTGAGAGGAGGGGACTGCACACCCAGCCGGAGAGGGGGCCTCATTTCCCCTTCAGATTGCTTTCTTCCCAGCCCCCTCTC... |
Task1_train_14837 | The variant affects gene TNNT3 (troponin T3, fast skeletal type), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Arthrogryposis, distal, type 2B2 | TTAGTCTTTTTTTTTTGCCTTTCCATTTTCCGTTTTTTTTTTTTTTTTCACATACATACGTTTTTCATTTGCGTGGTGTCATCTGGCCTTCTTTCCCTTAGAGGCACCTTCTGGTGCTCCTGAGCTTAGGAAACCCTTTCCTGCTCCAGTTTCTGATTGATATTTAGTTCCACTTTCTTCTATGGTTTGTTGGAAAAAATTGTTGTTGTTTTAACTCTTTGCTGCATCTGGAATGTATTGGTGAGAGGAGGGGACTGCACACCCAGCCGGAGAGGGGGCCTCATTTCCCCTTCAGATTGCTTTCTTCCCAGCCCCCTCTC... | TTAGTCTTTTTTTTTTGCCTTTCCATTTTCCGTTTTTTTTTTTTTTTTCACATACATACGTTTTTCATTTGCGTGGTGTCATCTGGCCTTCTTTCCCTTAGAGGCACCTTCTGGTGCTCCTGAGCTTAGGAAACCCTTTCCTGCTCCAGTTTCTGATTGATATTTAGTTCCACTTTCTTCTATGGTTTGTTGGAAAAAATTGTTGTTGTTTTAACTCTTTGCTGCATCTGGAATGTATTGGTGAGAGGAGGGGACTGCACACCCAGCCGGAGAGGGGGCCTCATTTCCCCTTCAGATTGCTTTCTTCCCAGCCCCCTCTC... |
Task1_train_14838 | A genomic change on Chromosome 11 affects IGF2, INS-IGF2 (insulin like growth factor 2| INS-IGF2 readthrough). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TGCTCCCGGGCCACACAGCAAGCAAGGAAGTCACGGGTCCTTGTCCCTGGCCAAGAGGTCCCAGAGGCCACAGGAAACGCTGGGCGCCCGAAGCCCTATTTCTCTGTCTCTAGAGAGTGGGAAAGGGGCCCAGGACCCTCACCGGAAGCACGGTCGGAGGGGTCGACACGTCCCTCTCGGACTTGGCGGGGGTAGCACAGTACGTCTCCAGGAGGGCCAGGTCACAGCTGCGGAAACAGCACTCCTCAACGATGCCACGGCTGCGACGGCTCACACGGCTTGCGGGCCTGCCTGGAAGTCCCACAGCACAGAGAGAGCCG... | TGCTCCCGGGCCACACAGCAAGCAAGGAAGTCACGGGTCCTTGTCCCTGGCCAAGAGGTCCCAGAGGCCACAGGAAACGCTGGGCGCCCGAAGCCCTATTTCTCTGTCTCTAGAGAGTGGGAAAGGGGCCCAGGACCCTCACCGGAAGCACGGTCGGAGGGGTCGACACGTCCCTCTCGGACTTGGCGGGGGTAGCACAGTACGTCTCCAGGAGGGCCAGGTCACAGCTGCGGAAACAGCACTCCTCAACGATGCCACGGCTGCGACGGCTCACACGGCTTGCGGGCCTGCCTGGAAGTCCCACAGCACAGAGAGAGCCG... |
Task1_train_14839 | A mutation found in IGF2, INS-IGF2 (insulin like growth factor 2| INS-IGF2 readthrough) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | GCTCCCGGGCCACACAGCAAGCAAGGAAGTCACGGGTCCTTGTCCCTGGCCAAGAGGTCCCAGAGGCCACAGGAAACGCTGGGCGCCCGAAGCCCTATTTCTCTGTCTCTAGAGAGTGGGAAAGGGGCCCAGGACCCTCACCGGAAGCACGGTCGGAGGGGTCGACACGTCCCTCTCGGACTTGGCGGGGGTAGCACAGTACGTCTCCAGGAGGGCCAGGTCACAGCTGCGGAAACAGCACTCCTCAACGATGCCACGGCTGCGACGGCTCACACGGCTTGCGGGCCTGCCTGGAAGTCCCACAGCACAGAGAGAGCCGT... | GCTCCCGGGCCACACAGCAAGCAAGGAAGTCACGGGTCCTTGTCCCTGGCCAAGAGGTCCCAGAGGCCACAGGAAACGCTGGGCGCCCGAAGCCCTATTTCTCTGTCTCTAGAGAGTGGGAAAGGGGCCCAGGACCCTCACCGGAAGCACGGTCGGAGGGGTCGACACGTCCCTCTCGGACTTGGCGGGGGTAGCACAGTACGTCTCCAGGAGGGCCAGGTCACAGCTGCGGAAACAGCACTCCTCAACGATGCCACGGCTGCGACGGCTCACACGGCTTGCGGGCCTGCCTGGAAGTCCCACAGCACAGAGAGAGCCGT... |
Task1_train_14840 | A change on Chromosome 11 affects gene INS-IGF2, INS (INS-IGF2 readthrough| insulin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Diabetes mellitus, permanent neonatal 4 | ATGGCTGCATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAG... | ATGGCTGCATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAG... |
Task1_train_14841 | This variant impacts the gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hyperproinsulinemia | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... |
Task1_train_14842 | This sequence change occurs on Chromosome 11, altering INS, INS-IGF2 (insulin| INS-IGF2 readthrough). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hyperproinsulinemia | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... |
Task1_train_14843 | An alteration has been detected in INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hyperproinsulinemia | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... |
Task1_train_14844 | This alteration occurs within gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; INS-related disorder | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... |
Task1_train_14845 | Mutation context: Chromosome 11, Gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Diabetes mellitus, permanent neonatal 4 | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... |
Task1_train_14846 | Here’s a variant in INS, INS-IGF2 (insulin| INS-IGF2 readthrough) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hyperproinsulinemia | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... |
Task1_train_14847 | This alteration in INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Type 1 diabetes mellitus 2 | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... |
Task1_train_14848 | Here’s a variant in INS, INS-IGF2 (insulin| INS-IGF2 readthrough) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Maturity-onset diabetes of the young type 10 | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... | ATCTCTTTTGGGTGGGCGGCCTTGCCCTCTCCTGAGGCCTCAGGTCAGAGGTCCCCCAGGACAGAAGTCACAGAAAATTTGGCCCCTCAAAAGACACTCCTCAGCCCCCAGCACCAGCCAGTGCCAGCTGCCCTGCAAGTCCTGGAAGGCTGGGGCAGCTCCAGGAGTCCCTGGACACCAAAGGGCTCCTCCTGCTGCCCTCCACTCCAACACACGGTCCCCCACAGAGCACTGACCCTCCCCTCCCAGAAGGGGCCTCTGCCCATCACTCCCTACGGCCTTGTTGGCCATCAGGGTCAGCCAGGGCAACAGCTTGGCCG... |
Task1_train_14849 | A mutation on Chromosome 11 affecting INS, INS-IGF2 (insulin| INS-IGF2 readthrough) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Maturity-onset diabetes of the young type 10 | TCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCT... | TCGTCTGCCCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCT... |
Task1_train_14850 | A variant has been detected on Chromosome 11 in INS-IGF2, INS (INS-IGF2 readthrough| insulin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hyperproinsulinemia | CCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCT... | CCACTAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCT... |
Task1_train_14851 | Given this variant in gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hyperproinsulinemia | TAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCA... | TAGGCTGGGTGCCCAGCGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCA... |
Task1_train_14852 | This variant lies on Chromosome 11 and affects the gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Type 2 diabetes mellitus | CGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCC... | CGGAGCCACCCTGTCCTCAGGGGTGCTGCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCC... |
Task1_train_14853 | Gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hyperproinsulinemia | GCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCA... | GCAGAAGAGGCTCTGTGTCAGGACCCCCAAGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCA... |
Task1_train_14854 | Given this variant in gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Diabetes mellitus, permanent neonatal 4 | AGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCAC... | AGGACCTGGAGCCACAACGACCTTGTCACCAGGGCCCGTGGGCCCTTCTGGGTGAGCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCAC... |
Task1_train_14855 | This mutation is located in gene INS, INS-IGF2 (insulin| INS-IGF2 readthrough) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Maturity-onset diabetes of the young type 10 | GCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCA... | GCAGCAGGTCTGTAGCAAAGGAAGCCAGCCAAGCAGCCCTGCTTACTGGGAGGGGGTGGGCTAAGGGGCTGCAGGGGGACCCTGGCCCTGGTCTCTGCCCCTGTGGCCCTGGCGGTTCCCTGCTTCTCCTGGGCTGCAATCCTCAGGGCCTCATGGCCGGGGTGCCCAAGGCATGGGTTCTGAGGCCCTGCCAGGTGCTGCCACGGTCCCTGCACCTGCCCCAGCTCATGGTGCCATCTGACCTCTCCTGCTTCCTCCAAGGCACCAGTGGGTCCCTCAGGTGTCTGGCTGGACCTGGGCTGGCATAAGCTGTGGCTGCA... |
Task1_train_14856 | This gene mutation involves TH (tyrosine hydroxylase) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive DOPA responsive dystonia | GCCAGGCCAGGATGCAGGCAGGCCAGGGTGAGGGTCACAATTCGTGGGTGGAAGGAGAGGCCTCAGCCTGGACGGCAAGAGGGTGAGGCCTGGATTCAGACCCCCAAACCCACACCCCAGGCCCTGCAGGGAGGGGTCAACCCACCGTGGACAGCTTCTCAATTTCCTCATCCGAGGCCCCCAGGGACGCCAGGCCAATGTCCTGTGGAGCAGGGAGGATGAAGGATGGGGAGAGGCAGCCCTGGGTCATGCTCGAGGTGGGGGCACCGGGGGTGTCAGCAGCCCCTCCAGGGGTCTCTGGGACACTTCCCTGGCGGCAG... | GCCAGGCCAGGATGCAGGCAGGCCAGGGTGAGGGTCACAATTCGTGGGTGGAAGGAGAGGCCTCAGCCTGGACGGCAAGAGGGTGAGGCCTGGATTCAGACCCCCAAACCCACACCCCAGGCCCTGCAGGGAGGGGTCAACCCACCGTGGACAGCTTCTCAATTTCCTCATCCGAGGCCCCCAGGGACGCCAGGCCAATGTCCTGTGGAGCAGGGAGGATGAAGGATGGGGAGAGGCAGCCCTGGGTCATGCTCGAGGTGGGGGCACCGGGGGTGTCAGCAGCCCCTCCAGGGGTCTCTGGGACACTTCCCTGGCGGCAG... |
Task1_train_14857 | Given this context: Chromosome 11, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Long QT syndrome | TTATTTTATCTGTTGCTTTTGGATTTCAAGTCATAGTTGGAAATGTTTTCCCGATTCACAGGTTCTTGAGGAATTGACCTGTACATTCTTGTAGAATTTGCATGGCTTCATCTCACCCTTTACACTTGAGCCTCTGATTCATTTGAGATTTATTCTCGTGTGCGGTGAGATGGACCCAAGGTATGCTTTTTCTTTCTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGA... | TTATTTTATCTGTTGCTTTTGGATTTCAAGTCATAGTTGGAAATGTTTTCCCGATTCACAGGTTCTTGAGGAATTGACCTGTACATTCTTGTAGAATTTGCATGGCTTCATCTCACCCTTTACACTTGAGCCTCTGATTCATTTGAGATTTATTCTCGTGTGCGGTGAGATGGACCCAAGGTATGCTTTTTCTTTCTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGA... |
Task1_train_14858 | This gene mutation involves KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TATTTTATCTGTTGCTTTTGGATTTCAAGTCATAGTTGGAAATGTTTTCCCGATTCACAGGTTCTTGAGGAATTGACCTGTACATTCTTGTAGAATTTGCATGGCTTCATCTCACCCTTTACACTTGAGCCTCTGATTCATTTGAGATTTATTCTCGTGTGCGGTGAGATGGACCCAAGGTATGCTTTTTCTTTCTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGAA... | TATTTTATCTGTTGCTTTTGGATTTCAAGTCATAGTTGGAAATGTTTTCCCGATTCACAGGTTCTTGAGGAATTGACCTGTACATTCTTGTAGAATTTGCATGGCTTCATCTCACCCTTTACACTTGAGCCTCTGATTCATTTGAGATTTATTCTCGTGTGCGGTGAGATGGACCCAAGGTATGCTTTTTCTTTCTTTATGACTGTCCAGTTGTCCAAACGCTGCTTATTCAAAGCTCACCTTCCTCCTGCTGAGGTGGGAGGGGAAGGCAGAGACTCCATGCAGGTGTATGTATGTTCACCCGGAAAGTAACTGCTGAA... |
Task1_train_14859 | A change on Chromosome 11 affects gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Long QT syndrome 1 | GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTC... | GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTC... |
Task1_train_14860 | This variant affects gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Long QT syndrome | GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTC... | GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTC... |
Task1_train_14861 | Given this variant in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cardiovascular phenotype | GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTC... | GTGCCCTGCAGAGCTGACTGACTGCCCCCATCTTCTGACCCGCTGCCCTTCTGCACCTTCACTGATATGCTTCCCAGGAAGGTACCCTCTCCTCGGCCTCCCTTGTGTTATCACAGCGCCCAGCACAAGCTGGGACCCACTCCATCCACTCTTGCTGCAAATACAGACTGTGCACTCCTGTGTGGCACCTCACTAGGGTGGGGAGTCAGGCGTCAAGGGCCTGGGCTGGACTCCGTCCACGATAAAAGAGCAGACTTTTGGCAGGGGGTGGTAGATACATCAAATTGACCCAGGGTGCTCAGGGACGACCTGGAAGTGTC... |
Task1_train_14862 | The variant affects gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Atrial fibrillation, familial, 3 | GTGCTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGG... | GTGCTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGG... |
Task1_train_14863 | A change on Chromosome 11 affects gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; KCNQ1-related disorder | CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCT... | CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCT... |
Task1_train_14864 | Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Long QT syndrome | CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCT... | CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCT... |
Task1_train_14865 | Chromosome 11 houses a mutation in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cardiovascular phenotype | CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCT... | CTCATGGTCTAGGGGGTGGACAACAGACTCTGGTCCCAGCGATGATGCTTGAGTATAAAGGACACAGTTGGGGTGTTGTGGGGGCCAGGGTCAGACATCAGAGCTGGCCTCTGCCTATGAGACAGGGCCCGCTGGCAGGACCCTCAAGCTGGGCTTTTAGGCTGGGCAGCAGCAGGTGCACGGGCCCTGAGGTGGGCCGGGCTGGGCACAGTCAGGACTGGCAACAAGGGCCGGGAGGAGCTGGGGTGATCTGGGGCCATCGTGGTGTAAATACTGGGGCACGACATGGAGGGTTCACTGACTGGCTGGGTGTGTGGGCT... |
Task1_train_14866 | Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Long QT syndrome 1 | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_14867 | Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Short QT syndrome type 2 | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_14868 | Chromosome 11 houses a mutation in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Jervell and Lange-Nielsen syndrome 1 | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_14869 | A variant found in Chromosome 11 affects KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Atrial fibrillation, familial, 3 | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_14870 | This gene mutation involves KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cardiovascular phenotype | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_14871 | A variant affecting Chromosome 11, within the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cardiac arrhythmia | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_14872 | This gene mutation involves KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Long QT syndrome 1 | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_14873 | Here’s a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Congenital long QT syndrome | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_14874 | Mutation context: Chromosome 11, Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Long QT syndrome | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_14875 | This variant impacts the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cardiovascular phenotype | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_14876 | Here’s a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Long QT syndrome | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... | AGCCCTAGGCCGGCTCATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTC... |
Task1_train_14877 | This mutation is located in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Recurrent spontaneous abortion | ATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTAC... | ATTGGAATAGTCATTTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTAC... |
Task1_train_14878 | Given this context: Chromosome 11, gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Long QT syndrome 1 | TTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTC... | TTATTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTC... |
Task1_train_14879 | This variant lies on Chromosome 11 and affects the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital long QT syndrome | TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGC... | TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGC... |
Task1_train_14880 | The following genetic variant occurs in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Long QT syndrome | TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGC... | TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGC... |
Task1_train_14881 | Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Long QT syndrome 1 | TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGC... | TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGC... |
Task1_train_14882 | This mutation is located in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiovascular phenotype | TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGC... | TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGC... |
Task1_train_14883 | Here is a genetic alteration in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cardiac arrhythmia | TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGC... | TTTGTTCCTTCATTCGTTCATTCAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGC... |
Task1_train_14884 | This sequence change occurs on Chromosome 11, altering KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCG... | CAGCATGTCCATGTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCG... |
Task1_train_14885 | The gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cardiac arrhythmia | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... |
Task1_train_14886 | This gene mutation involves KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Long QT syndrome | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... |
Task1_train_14887 | A variant found in Chromosome 11 affects KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital long QT syndrome | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... |
Task1_train_14888 | A mutation found in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cardiovascular phenotype | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... |
Task1_train_14889 | This variant impacts the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Long QT syndrome 1 | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... | GTTGAGCACTGACTGGAGCAGGTCCTGTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGAT... |
Task1_train_14890 | Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Long QT syndrome 1 | GTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGC... | GTTCTGGGGCCTGGGAAATGGGGGTGGATAAGACCAAGGTAGCCTCTTCTCTAAGGAGCTCAGCCGGACCTCAGCCTAGAGCCCTGGTCCCCAGGAGCTGAGGACAGAGGTGGGACCCACACCCCCCCCATGAGGCCACAGAGCCTGCAGGTGTCCACACCTTTTGTTTTTGTTTTTTGATTTTTGTTTTTCGTTTTTTGTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAATGGTGTGATCTCGGCTCACTGCAAGCTCTGCCTCTCGAGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGC... |
Task1_train_14891 | This gene mutation involves KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Long QT syndrome | AAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTG... | AAAAACATTTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTG... |
Task1_train_14892 | This sequence change occurs on Chromosome 11, altering KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Long QT syndrome | TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGC... | TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGC... |
Task1_train_14893 | A variant was discovered on Chromosome 11, affecting KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cardiovascular phenotype | TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGC... | TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGC... |
Task1_train_14894 | This sequence change occurs on Chromosome 11, altering KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; KCNQ1-related disorder | TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGC... | TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGC... |
Task1_train_14895 | This genomic variant is located on Chromosome 11, within the KCNQ1 (potassium voltage-gated channel subfamily Q member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Congenital long QT syndrome | TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGC... | TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGC... |
Task1_train_14896 | A variant found in Chromosome 11 affects KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Long QT syndrome 1 | TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGC... | TTTTGCAAAAGGAAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGC... |
Task1_train_14897 | A mutation in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Long QT syndrome | AAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACG... | AAAGCAACTAAGCTCCCAGCGTGTCTCCCCTTATCCATTGGGCTTGTCCCAAACACATGCCGGATGGTGTAAGTATCATTCCATCCTAATTAATAACATTTGGGAGCCAGCGATGGCAGTGTCCAGCTGACTGCTCATAGTGGACTCCCTGGTGGGGGCGTGGCATGGGAGCAAGGCCAGCCACTGTCACCCAGTGGGAGCAGAAGTCCCCTCCAGGGCCCGGCTTCTGAGGGAGGACAGGCAGGAGTCCGCCGGAAGTGGGCCTGAGACGCCGTATGCCTGTGGCTTTGTGGCTTTGTGTGGCTAGCGCCTCTCACACG... |
Task1_train_14898 | A variant found in Chromosome 11 affects KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Long QT syndrome 1 | CCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGAC... | CCCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGAC... |
Task1_train_14899 | Given this variant in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Long QT syndrome | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... |
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