ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
|---|---|---|---|---|
Task1_train_14900 | Consider this mutation in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Cardiovascular phenotype | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... |
Task1_train_14901 | Assess the clinical impact of this variant on gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Atrial fibrillation, familial, 3 | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... |
Task1_train_14902 | Consider this mutation in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Long QT syndrome 1 | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... |
Task1_train_14903 | 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 | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... |
Task1_train_14904 | A mutation on Chromosome 11 affecting KCNQ1 (potassium voltage-gated channel subfamily Q member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Short QT syndrome type 2 | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... |
Task1_train_14905 | 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; Beckwith-Wiedemann syndrome | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... |
Task1_train_14906 | 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; Jervell and Lange-Nielsen syndrome 1 | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... | CCTGTAAGGGCAAAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACG... |
Task1_train_14907 | 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; Long QT syndrome | AAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCA... | AAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCA... |
Task1_train_14908 | Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cardiac arrhythmia | AAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCA... | AAGTGATCCAGAGGCTGCCCCTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCA... |
Task1_train_14909 | Here is a mutation in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cardiovascular phenotype | CTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGG... | CTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGG... |
Task1_train_14910 | 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; Long QT syndrome 1 | CTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGG... | CTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGG... |
Task1_train_14911 | This alteration occurs within gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital long QT syndrome | CTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGG... | CTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGG... |
Task1_train_14912 | A genetic alteration is present in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Long QT syndrome | CTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGG... | CTACCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGG... |
Task1_train_14913 | The gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cardiac arrhythmia | CCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGC... | CCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGC... |
Task1_train_14914 | Here is a variant affecting KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Long QT syndrome 1 | CCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGC... | CCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGC... |
Task1_train_14915 | 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 | CCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGC... | CCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGC... |
Task1_train_14916 | 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 | CCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGC... | CCGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGC... |
Task1_train_14917 | 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 1/2, digenic | CGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCC... | CGCAGGTACACCAGGCTCAAAGGCCAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCC... |
Task1_train_14918 | 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 | CAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCC... | CAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCC... |
Task1_train_14919 | 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 | CAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCC... | CAGCTGTGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCC... |
Task1_train_14920 | 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; Long QT syndrome 1 | TGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGT... | TGAGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGT... |
Task1_train_14921 | Located on Chromosome 11, this mutation impacts KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Long QT syndrome | AGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGG... | AGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGG... |
Task1_train_14922 | 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; Long QT syndrome 1 | AGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGG... | AGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGG... |
Task1_train_14923 | 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; Cardiovascular phenotype | AGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGG... | AGGCTTTCCGGGGCTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGG... |
Task1_train_14924 | A variant on Chromosome 11 in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Long QT syndrome | CTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGC... | CTGGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGC... |
Task1_train_14925 | A variant has been detected on Chromosome 11 in KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Long QT syndrome | GGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCT... | GGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCT... |
Task1_train_14926 | This is a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Congenital long QT syndrome | GGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCT... | GGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCT... |
Task1_train_14927 | An alteration has been detected in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Long QT syndrome 1 | GGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCT... | GGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCT... |
Task1_train_14928 | 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; Long QT syndrome | GGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCT... | GGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCT... |
Task1_train_14929 | 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; Cardiovascular phenotype | GGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCT... | GGATCTGGTGGGAAAGTGCTTATCACGGAGGGCACCCGGGGTTCCTGGCGTGGGACCCCCTCTGACCCAGGCTAGGGTTCCTGGCGTGGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGAGTTCCTGGTGTGGGGCCCCCTCTGACCCAAGCTGGGGTTCCTGGCGTCGGACGCCCTCTGGCCCAAGCTGGGGTTCCTGGTGTGGGGCCCCCTCTGGCCAAGGCTGGGGTTCCTGGTGTGGGGCCTCCTCTGGCCT... |
Task1_train_14930 | 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 | CAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGG... | CAGGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGG... |
Task1_train_14931 | Here is a variant affecting KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Long QT syndrome 1 | GGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCT... | GGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCT... |
Task1_train_14932 | A variant was discovered in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Long QT syndrome | GGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCT... | GGAAGGACCCCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCT... |
Task1_train_14933 | 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; not provided | CCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGC... | CCCACCTCATGACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGC... |
Task1_train_14934 | This is a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Long QT syndrome | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... |
Task1_train_14935 | 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; Jervell and Lange-Nielsen syndrome 1 | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... |
Task1_train_14936 | 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; Atrial fibrillation, familial, 3 | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... |
Task1_train_14937 | 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; Beckwith-Wiedemann syndrome | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... |
Task1_train_14938 | 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; Short QT syndrome type 2 | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... |
Task1_train_14939 | 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 1 | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... |
Task1_train_14940 | 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; Cardiovascular phenotype | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... |
Task1_train_14941 | The gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not specified | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... |
Task1_train_14942 | This is a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Long QT syndrome 1 | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... |
Task1_train_14943 | 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; not provided | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... | ACCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGG... |
Task1_train_14944 | 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; not provided | CCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGT... | CCCCTACCAGATGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGT... |
Task1_train_14945 | 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; Cardiovascular phenotype | TGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCC... | TGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCC... |
Task1_train_14946 | A variant has been detected on Chromosome 11 in KCNQ1 (potassium voltage-gated channel subfamily Q member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Long QT syndrome | TGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCC... | TGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCC... |
Task1_train_14947 | 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; Long QT syndrome 1 | TGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCC... | TGGAGTCCCCTAAGGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCC... |
Task1_train_14948 | 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; Congenital long QT syndrome | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... |
Task1_train_14949 | A genomic change on Chromosome 11 affects KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cardiac arrhythmia | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... |
Task1_train_14950 | 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; KCNQ1-related disorder | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... |
Task1_train_14951 | This sequence variant lies in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cardiovascular phenotype | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... |
Task1_train_14952 | 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; Long QT syndrome 1 | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... |
Task1_train_14953 | A genetic alteration is present in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Long QT syndrome | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... | GGACTGGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGC... |
Task1_train_14954 | 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; Short QT syndrome type 2 | GGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCC... | GGGGAACCCCAAGGCCAGCAGGGGGTGACTGCCCAGGACCCAGCACAGGAGCATTGGCAGCCCTCAGCAGCCTCTGCACTCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCC... |
Task1_train_14955 | With a mutation on Chromosome 11 in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Long QT syndrome | TCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGA... | TCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGA... |
Task1_train_14956 | This is a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Cardiovascular phenotype | TCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGA... | TCAGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGA... |
Task1_train_14957 | The gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Long QT syndrome 1 | AGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGC... | AGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGC... |
Task1_train_14958 | A variant was discovered in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Long QT syndrome 1 | AGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGC... | AGACGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGC... |
Task1_train_14959 | This mutation occurs in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Long QT syndrome | CGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGG... | CGCTGATCATGGTGTTGGGGGTAGGGGGTTGGTCCCTCACAGATTCCCATGAGCCTCACAGCCCAGCATAGCTTCATGGTGGGCCAGTCACCCTCGGCAGCCTGAGAACCATGGTCCAGGCCTGAGGCCCTGCCCTTTCTGGCCACTTGCAGGGCTCAGCACAGGGCCCAGCCTAGGCCGGGGGCTCCACATGGCCAGGACAGAGGTTGGGTCTCTCCGTTTAGATGCTGCCTGCCTCCCTATCCGAGGTGTCTCCATGTCCCCGGTCATCAGGGCGTGACCCGTCTGACCAGCAAGCCCCTTCCCCAGACGAGAGCAGG... |
Task1_train_14960 | 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; Long QT syndrome | ACCCCAGTGCACCTGGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGT... | ACCCCAGTGCACCTGGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGT... |
Task1_train_14961 | 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; Long QT syndrome | GGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGT... | GGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGT... |
Task1_train_14962 | A sequence alteration has been identified in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Cardiovascular phenotype | GGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGT... | GGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGT... |
Task1_train_14963 | 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 1 | GGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGT... | GGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGT... |
Task1_train_14964 | This mutation occurs in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cardiovascular phenotype | GGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGT... | GGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGT... |
Task1_train_14965 | Consider a variant on Chromosome 11 in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Determine its clinical classification and disease relevance. | Pathogenic; Long QT syndrome | GGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGT... | GGGCCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGT... |
Task1_train_14966 | 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; Long QT syndrome | CCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTG... | CCCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTG... |
Task1_train_14967 | A variant was discovered in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiovascular phenotype | CCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGT... | CCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGT... |
Task1_train_14968 | 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; Long QT syndrome | CCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGT... | CCTCTGGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGT... |
Task1_train_14969 | This is a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Cardiovascular phenotype | GGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACA... | GGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACA... |
Task1_train_14970 | This is a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Long QT syndrome | GGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACA... | GGGGAAGGTAGCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACA... |
Task1_train_14971 | This is a variant in KCNQ1 (potassium voltage-gated channel subfamily Q member 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Long QT syndrome | GCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACA... | GCGGCAGCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACA... |
Task1_train_14972 | A genomic change on Chromosome 11 affects KCNQ1 (potassium voltage-gated channel subfamily Q member 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cardiovascular phenotype | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... |
Task1_train_14973 | This alteration in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Atrial fibrillation, familial, 3 | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... |
Task1_train_14974 | This mutation occurs in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Long QT syndrome 1 | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... |
Task1_train_14975 | 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; Jervell and Lange-Nielsen syndrome 1 | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... |
Task1_train_14976 | Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Short QT syndrome type 2 | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... |
Task1_train_14977 | A sequence alteration has been identified in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Long QT syndrome 1 | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... |
Task1_train_14978 | Given a variant located on Chromosome 11 and affecting KCNQ1 (potassium voltage-gated channel subfamily Q member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Long QT syndrome | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... | GCCCAGCCTGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCA... |
Task1_train_14979 | 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 | TGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGA... | TGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGA... |
Task1_train_14980 | The gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cardiovascular phenotype | TGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGA... | TGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGA... |
Task1_train_14981 | 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; Long QT syndrome | TGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGA... | TGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGA... |
Task1_train_14982 | 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 | TGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGA... | TGTGCATGTGGGTGCAGGCCCTCTGGGGAGGACACCCTGCAGACGAGGGGCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGA... |
Task1_train_14983 | 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; Cardiovascular phenotype | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... |
Task1_train_14984 | The gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cardiac arrhythmia | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... |
Task1_train_14985 | 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 | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... |
Task1_train_14986 | This mutation occurs in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Long QT syndrome 1 | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... |
Task1_train_14987 | A mutation on Chromosome 11 affecting KCNQ1 (potassium voltage-gated channel subfamily Q member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cardiovascular phenotype | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... |
Task1_train_14988 | This variant affects the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Long QT syndrome | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... |
Task1_train_14989 | 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 | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... | GCTCCGGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACA... |
Task1_train_14990 | A variant was discovered in gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiovascular phenotype | GGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACACAGAG... | GGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACACAGAG... |
Task1_train_14991 | Given a variant located on Chromosome 11 and affecting KCNQ1 (potassium voltage-gated channel subfamily Q member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Long QT syndrome | GGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACACAGAG... | GGTTCCCCCAGGGCCCCCCTCTCTGCCAGCCACTGTCAGCCTCACCCATGGCCTGGCTTCACCCTGCAGGGACCTGGCTGCGCTCCGTGTGCCTGCGCTGTGCGTTCAAGGTGTCTGCACCTGAATGTGCCCTGAGAGTGTCAGGCTCGGACATGGGGACCAGCTCCCTTTTCACATGACCTTGTCATCTGTGTGACGCACGTGCGTGTGCCGGGTCGTGTGTTTCCGTGTGTGTGTGCACAAGCACAGACACGTGCACGTGTGGAGCATCCCATCTCTGCATGGGGCACGCTTGTGAGTGTGCACCCACATACACAGAG... |
Task1_train_14992 | Gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Long QT syndrome | TCCCAGCCAGCAGGCCTGGCCCTTCGTGGGTGCTGGGCTCCTTACATGTGCTGGTGGGACATACCTTGTGTGTGACGCCGAGAGCCTGGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGG... | TCCCAGCCAGCAGGCCTGGCCCTTCGTGGGTGCTGGGCTCCTTACATGTGCTGGTGGGACATACCTTGTGTGTGACGCCGAGAGCCTGGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGG... |
Task1_train_14993 | 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 | TCCCAGCCAGCAGGCCTGGCCCTTCGTGGGTGCTGGGCTCCTTACATGTGCTGGTGGGACATACCTTGTGTGTGACGCCGAGAGCCTGGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGG... | TCCCAGCCAGCAGGCCTGGCCCTTCGTGGGTGCTGGGCTCCTTACATGTGCTGGTGGGACATACCTTGTGTGTGACGCCGAGAGCCTGGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGG... |
Task1_train_14994 | This variant affects the gene KCNQ1 (potassium voltage-gated channel subfamily Q member 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Long QT syndrome | CCCAGCCAGCAGGCCTGGCCCTTCGTGGGTGCTGGGCTCCTTACATGTGCTGGTGGGACATACCTTGTGTGTGACGCCGAGAGCCTGGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGT... | CCCAGCCAGCAGGCCTGGCCCTTCGTGGGTGCTGGGCTCCTTACATGTGCTGGTGGGACATACCTTGTGTGTGACGCCGAGAGCCTGGGAGACATGTGCCATCCCGCGGCTCTGTTCCTGGTGCTTTCGCCGAGTCACACGGGGTCGTCCTGGTGGTCAGGGTCTCTTGCCGGCCTCTCCGCTCATCAGAGTGGTGGGTTTGGGTTAGGCAGTTGGCCCTCCCGAGGCTCCAGTCCCATCCGTGGCTGACCACTGTCCCTCTCCCTGCAGGTCACAGTCACCACCATCGGCTATGGGGACAAGGTGCCCCAGACGTGGGT... |
Task1_train_14995 | 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 | CTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTGGACGTGGTTGGCTCTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGG... | CTGTGGGCTGGAGAGGAGGCACGGCCGTGGCCATGCCAGGAGTGGACGTGGTTGGCTCTGAGGCTCCCTTGTGCTCCCATTCTCCCTCCCACTGCACAACAACCTGAGGGCTGAGTCTGGGAGTGGGGTGGCCAGGTGATTGTCCCCAAGGGAGGTAGGACCCAGCTGTGCAGTTGGTGCCTTCTGGAGGGCCTGGCATCCCTCAGGGCTCGGGAGGCCCTGGTGCCTGGAGGTGAGGACTGGCGATGGATGGCATGGGCCTCCCTCTGGGCTCACAAGGCCAGTGGGCTGGGAAAGGCAGAGCCCTGGAGCAACAGGGG... |
Task1_train_14996 | 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 | GTAGCAAACTAGACCTAAATTTAGTGGCTTCAAATATTTTCTTTGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCGGACAGATCATGAGGTCAAGAGATCAACACCATCCTAGCCAACATGATCAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTGCTACTCAGGAGGCTGAGGCAGAAAAATCACTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCCGAGGTTGTGCCACTGCACTCCAGCCTGGCAATAGAGCGAGACTCCATCTATATGT... | GTAGCAAACTAGACCTAAATTTAGTGGCTTCAAATATTTTCTTTGGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGCGGACAGATCATGAGGTCAAGAGATCAACACCATCCTAGCCAACATGATCAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTGCTACTCAGGAGGCTGAGGCAGAAAAATCACTTGAACCCGGGAGGCGGAGGCTGCAGTGAGCCGAGGTTGTGCCACTGCACTCCAGCCTGGCAATAGAGCGAGACTCCATCTATATGT... |
Task1_train_14997 | Here is a mutation in KCNQ1 (potassium voltage-gated channel subfamily Q member 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Long QT syndrome | CCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCTATCAC... | CCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCTATCAC... |
Task1_train_14998 | 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; Long QT syndrome 1 | CCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCTATCAC... | CCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCTATCAC... |
Task1_train_14999 | 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; Cardiovascular phenotype | CCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCTATCAC... | CCCATCTTATAGAAGACAGAGACAGGGTTCAGCATCCCATCTTACAGAAAAGAGAATTAAGACTCAACATCCCATTTCATAGAAGAGAACTCAGTATCTCCATCTTATAGGAAGGAGAAACAGGGCTCAGCATCCCCTTTTACGGAAGAGAGAGACAGGGCTCAGCATTTTATCTTACAGAAGAGAGAAGAAGGACTTAGCATTCCCATATTACAGGAGAAACTGAGACCTGAGGATGTTATTACTAGCCTGTACATAAGTACGGTTTTTACGGGCCAGAGGGTCTGCCTAGAGTCCAACCCCATGCCTGCCTCTATCAC... |
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