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_1900 | Given this variant in gene NTRK1 (neurotrophic receptor tyrosine kinase 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | TGGAGGGGGCTCTGTCTCCTTCGCTATCCCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGAT... | TGGAGGGGGCTCTGTCTCCTTCGCTATCCCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGAT... |
Task1_train_1901 | Assess the clinical impact of this variant on gene NTRK1 (neurotrophic receptor tyrosine kinase 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary insensitivity to pain with anhidrosis | CCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTGCCCACCTCGG... | CCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTGCCCACCTCGG... |
Task1_train_1902 | A change on Chromosome 1 affects gene KIRREL1 (kirre like nephrin family adhesion molecule 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Nephrotic syndrome, type 23 | AAAATGGACTCGGGAACCCCATTTCCCTTCTGGGAATTCACTTGTGGCCCTTCCTGCTTTCTTTCCGATGCCTCCGATGTGGGGCCCTCATGGACCTAGGGGCCCAGGCCTCCTGGCTCCCCACCCGAGGCTGCTCTCTCTGCCCAGGTCCTGAGTAACAGCAACCAGCTGCTGCTGAAGTCGGTGACTCAGGCAGACGCTGGCACCTACACCTGCCGGGCCATCGTGCCTCGAATCGGAGTGGCTGAGCGGGAGGTGCCGCTCTATGTGAACGGTGAGTGAGTGGCCTGAGAGGCAGCCGGGCCTGGGCGGGCTGGTAC... | AAAATGGACTCGGGAACCCCATTTCCCTTCTGGGAATTCACTTGTGGCCCTTCCTGCTTTCTTTCCGATGCCTCCGATGTGGGGCCCTCATGGACCTAGGGGCCCAGGCCTCCTGGCTCCCCACCCGAGGCTGCTCTCTCTGCCCAGGTCCTGAGTAACAGCAACCAGCTGCTGCTGAAGTCGGTGACTCAGGCAGACGCTGGCACCTACACCTGCCGGGCCATCGTGCCTCGAATCGGAGTGGCTGAGCGGGAGGTGCCGCTCTATGTGAACGGTGAGTGAGTGGCCTGAGAGGCAGCCGGGCCTGGGCGGGCTGGTAC... |
Task1_train_1903 | This genomic variant is located on Chromosome 1, within the KIRREL1, LOC126805884 (kirre like nephrin family adhesion molecule 1| BRD4-independent group 4 enhancer GRCh37_chr1:158063276-158064475) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Nephrotic syndrome, type 23 | GTGAAGGGGTTTGGGGCTACTCCCCTCTGATTCCTGCCTATTGTAAGAGTCTGTGCATCAGAGGGAAAGAACTCTCTGGGGCCTTCCCTCCAGAACCTGGCCTCCATGCTCAACTGGGGAAATGCCCTCACTTCGTTAAAGTGTACTGAGCATTTGCTATGTGCCAGGCTCTGCCCCAGGGGCTGCAGAAAGAGCTGTGAACAAGACACAGTCCCTGACCTCAAGAAACTTTCGGTGTAGTGGAGGAGGGACTTACAGAGTGGTAGTAAATTAATTCGGATGGAGAAGAATCATATGAACTGCAAAAGGGAATAACACGC... | GTGAAGGGGTTTGGGGCTACTCCCCTCTGATTCCTGCCTATTGTAAGAGTCTGTGCATCAGAGGGAAAGAACTCTCTGGGGCCTTCCCTCCAGAACCTGGCCTCCATGCTCAACTGGGGAAATGCCCTCACTTCGTTAAAGTGTACTGAGCATTTGCTATGTGCCAGGCTCTGCCCCAGGGGCTGCAGAAAGAGCTGTGAACAAGACACAGTCCCTGACCTCAAGAAACTTTCGGTGTAGTGGAGGAGGGACTTACAGAGTGGTAGTAAATTAATTCGGATGGAGAAGAATCATATGAACTGCAAAAGGGAATAACACGC... |
Task1_train_1904 | Gene SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Elliptocytosis 2 | CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGA... | CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGA... |
Task1_train_1905 | With a mutation on Chromosome 1 in gene SPTA1 (spectrin alpha, erythrocytic 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pyropoikilocytosis, hereditary | CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGA... | CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGA... |
Task1_train_1906 | Gene SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Elliptocytosis 2 | AAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTG... | AAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTG... |
Task1_train_1907 | A variant was discovered on Chromosome 1, affecting SPTA1 (spectrin alpha, erythrocytic 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | CCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCT... | CCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCT... |
Task1_train_1908 | The gene SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; SPTA1-related disorder | CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTA... | CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTA... |
Task1_train_1909 | Here is a genetic alteration in SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTA... | CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTA... |
Task1_train_1910 | A variant affecting Chromosome 1, within the gene CADM3 (cell adhesion molecule 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Charcot-Marie-Tooth disease, axonal, type 2FF | TGCAGTTTTCTACCAGCTACCTCTTGTGTAAATGAATGTGCAATCCAAGAGCTGGTTTAGCCTTTTCCCCATTTTAGTTTTAGGATTATTAGTCACAACTGCTTCTCCTGTTCTTGTTCTTATATGTAGGTGGTGGCAGGAAGGCCAAACGTAGAACAACAGATATGTCTGTGTGTTTTCAGAGGTAAATGGTAGAACCATATCAGAAAAGACACATGTGGAGTGGTATGTGCAGATTTGGGGTGCCTTTACTCCTCTAAATGTTCGTGGCCCTGTCAGTTCATTCAGGAAACATTTAACAAGTGACTATTTGTTTTTCT... | TGCAGTTTTCTACCAGCTACCTCTTGTGTAAATGAATGTGCAATCCAAGAGCTGGTTTAGCCTTTTCCCCATTTTAGTTTTAGGATTATTAGTCACAACTGCTTCTCCTGTTCTTGTTCTTATATGTAGGTGGTGGCAGGAAGGCCAAACGTAGAACAACAGATATGTCTGTGTGTTTTCAGAGGTAAATGGTAGAACCATATCAGAAAAGACACATGTGGAGTGGTATGTGCAGATTTGGGGTGCCTTTACTCCTCTAAATGTTCGTGGCCCTGTCAGTTCATTCAGGAAACATTTAACAAGTGACTATTTGTTTTTCT... |
Task1_train_1911 | This variant lies on Chromosome 1 and affects the gene ACKR1 (atypical chemokine receptor 1 (Duffy blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; ACKR1-related disorder | TGAAGCAGCCGATGCTGTTTTGGACAAATGAAACAGCGTCCCCTAACCAGCCCTTTCTATCTCATTGTTCTGACTTGGACACGCCATGGCTCACCGCTCCCAAAGTCCCCACTATGTCTCCCTAGCTGAGGAAATAAAAGCAGAGAGGGGTGATGAAACAGTGACGATCCTGGGGAAACAGCTGAGGAGGGGAGGGAGGGGGAAGAAGCCACTAAAAAAGTGAAATGTGCTTGGGAGAATCGGCCTGCCTGCAGGGTAGATGCCCTTTCTCTCTGCTGGCCAGCTCTGCCCCTCAGTGAGAAACTTTACATATTGCTAAG... | TGAAGCAGCCGATGCTGTTTTGGACAAATGAAACAGCGTCCCCTAACCAGCCCTTTCTATCTCATTGTTCTGACTTGGACACGCCATGGCTCACCGCTCCCAAAGTCCCCACTATGTCTCCCTAGCTGAGGAAATAAAAGCAGAGAGGGGTGATGAAACAGTGACGATCCTGGGGAAACAGCTGAGGAGGGGAGGGAGGGGGAAGAAGCCACTAAAAAAGTGAAATGTGCTTGGGAGAATCGGCCTGCCTGCAGGGTAGATGCCCTTTCTCTCTGCTGGCCAGCTCTGCCCCTCAGTGAGAAACTTTACATATTGCTAAG... |
Task1_train_1912 | Given this context: Chromosome 1, gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; SeSAME-like syndrome | TGGGGCTTTGGATAAAGCTCTGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCC... | TGGGGCTTTGGATAAAGCTCTGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCC... |
Task1_train_1913 | Here is a variant affecting KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCC... | TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCC... |
Task1_train_1914 | The gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; EAST syndrome | TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCC... | TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCC... |
Task1_train_1915 | A genetic alteration is present in KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; EAST syndrome | TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGT... | TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGT... |
Task1_train_1916 | With a mutation on Chromosome 1 in gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; EAST syndrome | TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGT... | TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGT... |
Task1_train_1917 | Consider a variant on Chromosome 1 in gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). Determine its clinical classification and disease relevance. | Pathogenic; Pendred syndrome | TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGT... | TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGT... |
Task1_train_1918 | Assess the clinical impact of this variant on gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 4 | TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGT... | TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGT... |
Task1_train_1919 | The gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; EAST syndrome | TAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTG... | TAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTG... |
Task1_train_1920 | Located on Chromosome 1, this mutation impacts KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; EAST syndrome | TCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCT... | TCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCT... |
Task1_train_1921 | Given a variant located on Chromosome 1 and affecting KCNJ10 (potassium inwardly rectifying channel subfamily J member 10), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; EAST syndrome | TGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGG... | TGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGG... |
Task1_train_1922 | This mutation is located in gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cerebellar ataxia | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... |
Task1_train_1923 | This mutation occurs in KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Microcephaly | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... |
Task1_train_1924 | This sequence change occurs on Chromosome 1, altering KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Spastic diplegia | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... |
Task1_train_1925 | This sequence change occurs on Chromosome 1, altering KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Bilateral sensorineural hearing impairment | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... |
Task1_train_1926 | This sequence change occurs on Chromosome 1, altering KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Renal tubular dysfunction | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... |
Task1_train_1927 | Located on Chromosome 1, this mutation impacts KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; EAST syndrome | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... | CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGAT... |
Task1_train_1928 | Given this context: Chromosome 1, gene ATP1A2, LOC126805890 (ATPase Na+/K+ transporting subunit alpha 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Migraine, familial hemiplegic, 2 | AAGGGCAGGGACTTTGTTGGTCTTGTCCATCTCTGCATCCGCAGAGTGACAATTGTGCCTGGCACTGGATATACATTTATTAAATGAATGAATGAATGAAAAAAAAAAAAAAAGAAACGGTCCCTGCTTTAAAGGAGCTCAAAGTCTAGTAGCAGAAAAAATGCAATCCTAGGATTCCAATGCAATATGGTGAGTGCAGCTCTAGAATCAAGTATAGAACACCATGGGGAACCAGAAAGAAGCATCTGAACCAGCCTGGGGCTGAGGGAATAGGGCCAGGCAAGGCTTTCTGTGGAAAGTGACAGGTGATTGCCAAAGTT... | AAGGGCAGGGACTTTGTTGGTCTTGTCCATCTCTGCATCCGCAGAGTGACAATTGTGCCTGGCACTGGATATACATTTATTAAATGAATGAATGAATGAAAAAAAAAAAAAAAGAAACGGTCCCTGCTTTAAAGGAGCTCAAAGTCTAGTAGCAGAAAAAATGCAATCCTAGGATTCCAATGCAATATGGTGAGTGCAGCTCTAGAATCAAGTATAGAACACCATGGGGAACCAGAAAGAAGCATCTGAACCAGCCTGGGGCTGAGGGAATAGGGCCAGGCAAGGCTTTCTGTGGAAAGTGACAGGTGATTGCCAAAGTT... |
Task1_train_1929 | The gene ATP1A2, LOC126805890 (ATPase Na+/K+ transporting subunit alpha 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Migraine, familial hemiplegic, 2 | GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGAC... | GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGAC... |
Task1_train_1930 | Given this variant in gene ATP1A2, LOC126805890 (ATPase Na+/K+ transporting subunit alpha 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial hemiplegic migraine | GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGAC... | GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGAC... |
Task1_train_1931 | The gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Inborn genetic diseases | TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAA... | TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAA... |
Task1_train_1932 | This variant affects gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Alternating hemiplegia of childhood 1 | TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAA... | TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAA... |
Task1_train_1933 | Here is a variant affecting ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Migraine, familial hemiplegic, 2 | CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGA... | CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGA... |
Task1_train_1934 | A sequence alteration has been identified in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Familial hemiplegic migraine | CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGA... | CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGA... |
Task1_train_1935 | With a mutation on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial hemiplegic migraine | GCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTC... | GCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTC... |
Task1_train_1936 | The gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Migraine, familial hemiplegic, 2 | ATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGC... | ATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGC... |
Task1_train_1937 | Gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial hemiplegic migraine | CTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATT... | CTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATT... |
Task1_train_1938 | Here is a genetic alteration in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial hemiplegic migraine | CTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCT... | CTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCT... |
Task1_train_1939 | A variant was discovered in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Familial hemiplegic migraine | CTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTA... | CTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTA... |
Task1_train_1940 | This alteration occurs within gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial hemiplegic migraine | TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAG... | TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAG... |
Task1_train_1941 | This mutation occurs in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; ATP1A2-related disorder | TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAG... | TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAG... |
Task1_train_1942 | This mutation is located in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental and epileptic encephalopathy 98 | TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAG... | TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAG... |
Task1_train_1943 | This alteration occurs within gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Migraine, familial hemiplegic, 2 | TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAG... | TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAG... |
Task1_train_1944 | With a mutation on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Inborn genetic diseases | AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATC... | AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATC... |
Task1_train_1945 | Consider a variant on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Determine its clinical classification and disease relevance. | Pathogenic; Familial hemiplegic migraine | AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATC... | AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATC... |
Task1_train_1946 | A variant found in Chromosome 1 affects ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Familial hemiplegic migraine | AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATC... | AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATC... |
Task1_train_1947 | Located on Chromosome 1, this mutation impacts ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; ATP1A2-related disorder | TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTG... | TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTG... |
Task1_train_1948 | This genomic variant is located on Chromosome 1, within the ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial hemiplegic migraine | TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTG... | TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTG... |
Task1_train_1949 | A variant was discovered in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Familial hemiplegic migraine | GAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAGTAGCAGGCTTGGTGGGGTGGCAGGAGTAGAGAAAAGGAGTTCAATGTTGACCTTAAGCTTAAAGAGTCTATAAGATACCCCAGGAAAGACAGATGTTCCAGTGAACATTGGAGTATGGTTTAGAGCTCATGAAAGATGGTCAGGACTGGAGATTTGAATCTCATTAGCACAAGGGT... | GAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAGTAGCAGGCTTGGTGGGGTGGCAGGAGTAGAGAAAAGGAGTTCAATGTTGACCTTAAGCTTAAAGAGTCTATAAGATACCCCAGGAAAGACAGATGTTCCAGTGAACATTGGAGTATGGTTTAGAGCTCATGAAAGATGGTCAGGACTGGAGATTTGAATCTCATTAGCACAAGGGT... |
Task1_train_1950 | Given this context: Chromosome 1, gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial hemiplegic migraine | GCCCACACATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTC... | GCCCACACATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTC... |
Task1_train_1951 | An alteration has been detected in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | ATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTT... | ATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTT... |
Task1_train_1952 | The following genetic variant occurs in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Migraine, familial hemiplegic, 2 | CCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATC... | CCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATC... |
Task1_train_1953 | A genomic change on Chromosome 1 affects ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Familial hemiplegic migraine | TCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTC... | TCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTC... |
Task1_train_1954 | Given a variant located on Chromosome 1 and affecting ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial hemiplegic migraine | ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATT... | ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATT... |
Task1_train_1955 | This alteration in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Migraine, familial hemiplegic, 2 | ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATT... | ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATT... |
Task1_train_1956 | This variant affects the gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Migraine, familial hemiplegic, 2 | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... |
Task1_train_1957 | The gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Alternating hemiplegia of childhood 1 | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... |
Task1_train_1958 | A genomic change on Chromosome 1 affects ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... |
Task1_train_1959 | A sequence alteration has been identified in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Developmental and epileptic encephalopathy 98 | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... |
Task1_train_1960 | Gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Migraine, familial hemiplegic, 2 | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... |
Task1_train_1961 | A genetic alteration is present in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Alternating hemiplegia of childhood 1 | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... |
Task1_train_1962 | This alteration occurs within gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial hemiplegic migraine | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... | CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCC... |
Task1_train_1963 | Given this context: Chromosome 1, gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Migraine, familial hemiplegic, 2 | CCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTAC... | CCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTAC... |
Task1_train_1964 | A variant on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial hemiplegic migraine | CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAA... | CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAA... |
Task1_train_1965 | Consider a variant on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Determine its clinical classification and disease relevance. | Pathogenic; Migraine, familial hemiplegic, 2 | CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAA... | CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAA... |
Task1_train_1966 | A sequence alteration has been identified in CASQ1 (calsequestrin 1) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; not provided | ACTGCACACACACACCACACACACACACATACACCACACGCACACACACCATACATACACCACACGCACACACACCATACATACACACACACACCACCTGCATACACACCACACATATGCATGCACATGCACACAATAGTTCACAAATCACCTACACACCACACACTACACATAGGCACCACATGCACACCACACACACTACACACACCACACACACATCATATACATACCACACACCCATCACACACATATCACATGCACACACACACCACATGCACACCACACACTCCACACACATCACACACCACATGCACATACAC... | ACTGCACACACACACCACACACACACACATACACCACACGCACACACACCATACATACACCACACGCACACACACCATACATACACACACACACCACCTGCATACACACCACACATATGCATGCACATGCACACAATAGTTCACAAATCACCTACACACCACACACTACACATAGGCACCACATGCACACCACACACACTACACACACCACACACACATCATATACATACCACACACCCATCACACACATATCACATGCACACACACACCACATGCACACCACACACTCCACACACATCACACACCACATGCACATACAC... |
Task1_train_1967 | Gene DCAF8 (DDB1 and CUL4 associated factor 8), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ACTCAATACTGGTACTGACCTATAAGATCTGTTATAATAATTTTGGTTTTTTTTTTTGAGACAGTCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGTGCCACCACACACGGCTAATTTTTGTATTTTCAGTAGAGACGAGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACAAAGTGCTGGGGTTACAGGCATGAGCCACTGCACCTGA... | ACTCAATACTGGTACTGACCTATAAGATCTGTTATAATAATTTTGGTTTTTTTTTTTGAGACAGTCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGTGCCACCACACACGGCTAATTTTTGTATTTTCAGTAGAGACGAGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACAAAGTGCTGGGGTTACAGGCATGAGCCACTGCACCTGA... |
Task1_train_1968 | A variant on Chromosome 1 in gene PEX19 (peroxisomal biogenesis factor 19) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Peroxisome biogenesis disorder 12A (Zellweger) | CAGGTTCAAGTGATTCTCCTGCTGCCTCCTGAGTAGTTGCGATCACAGGCGTGAGCCACTACGCCAGGATAATTTTTGTATTTTTACTACAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAAATTCTTGCTGGAGAAATGAAGTCAGAAATGCAAGATTGATCAGACAACAATCCCAGAGTCTTGAACCAGTTTATAGAAAACTAGAACTGAAGGATTTCCTCTTAGACCCCAAA... | CAGGTTCAAGTGATTCTCCTGCTGCCTCCTGAGTAGTTGCGATCACAGGCGTGAGCCACTACGCCAGGATAATTTTTGTATTTTTACTACAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAAATTCTTGCTGGAGAAATGAAGTCAGAAATGCAAGATTGATCAGACAACAATCCCAGAGTCTTGAACCAGTTTATAGAAAACTAGAACTGAAGGATTTCCTCTTAGACCCCAAA... |
Task1_train_1969 | A variant affecting Chromosome 1, within the gene COPA (COPI coat complex subunit alpha), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autoimmune interstitial lung disease-arthritis syndrome | GAAAAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTC... | GAAAAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTC... |
Task1_train_1970 | Mutation context: Chromosome 1, Gene COPA (COPI coat complex subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | AAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTCCCC... | AAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTCCCC... |
Task1_train_1971 | This genomic variant is located on Chromosome 1, within the COPA (COPI coat complex subunit alpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autoimmune interstitial lung disease-arthritis syndrome | TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAAC... | TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAAC... |
Task1_train_1972 | Consider a variant on Chromosome 1 in gene COPA (COPI coat complex subunit alpha). Determine its clinical classification and disease relevance. | Pathogenic; See cases | TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAAC... | TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAAC... |
Task1_train_1973 | A variant was discovered in gene COPA (COPI coat complex subunit alpha), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autoimmune interstitial lung disease-arthritis syndrome | TTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGG... | TTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGG... |
Task1_train_1974 | A variant affecting Chromosome 1, within the gene NCSTN (nicastrin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Acne inversa, familial, 1 | CCTCCTTAAGTGAGGTTGCCACTACTCGTCTCCAAAAAGGCTACTGACTCGGGTGCGAGTAACAGAGATCGAGACTCAGTTCCCAGGGCCACTCCATATAACACAGTCATCAAAAAGCCAACAGATCACAGGGCCTTTGGAGCAGAACAACACAAATCGGGAGCACAGCCAAGAGAGAAAGGGGGAAGAAAGAATAGGGAGGGGGTCTAAGGAATCCCCTGCAGTGTGGGAGCCACTTTATAGGTAAATCGAAGCCCAAGGACACACCAAAGAAGAGGGGACTGGAGAACCGCTAGCCAGGCCCAACCTCTCTCCCACCC... | CCTCCTTAAGTGAGGTTGCCACTACTCGTCTCCAAAAAGGCTACTGACTCGGGTGCGAGTAACAGAGATCGAGACTCAGTTCCCAGGGCCACTCCATATAACACAGTCATCAAAAAGCCAACAGATCACAGGGCCTTTGGAGCAGAACAACACAAATCGGGAGCACAGCCAAGAGAGAAAGGGGGAAGAAAGAATAGGGAGGGGGTCTAAGGAATCCCCTGCAGTGTGGGAGCCACTTTATAGGTAAATCGAAGCCCAAGGACACACCAAAGAAGAGGGGACTGGAGAACCGCTAGCCAGGCCCAACCTCTCTCCCACCC... |
Task1_train_1975 | Given this context: Chromosome 1, gene NECTIN4 (nectin cell adhesion molecule 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1 | ATCACACCCACCACCACCACCGAGGCTGACACTAGGTCCACCTGCTTCCCAGAGTCTTCCTGGGGGTCTGCTGGAGACAGGCCACTGTCTGAGGTGGAAGCCTGCAGCCACAACCCACCCCAGACCTCACAGCTCCCCCGCAAAACATCTAAAACCACACCTCAGTTTGATTCTCTGCAAGACACACAGCCCAGCCCCCTCTGAATAAACACTTTCCCAATTCACTGTCTCTGTCTTGCTTCCTGCTGCCCCCACCAAGCCCTTGGCCCAGGTCCTTACCAAGGACTTCTGCTCCAGTGCTTACCAAGAACATCCACAGT... | ATCACACCCACCACCACCACCGAGGCTGACACTAGGTCCACCTGCTTCCCAGAGTCTTCCTGGGGGTCTGCTGGAGACAGGCCACTGTCTGAGGTGGAAGCCTGCAGCCACAACCCACCCCAGACCTCACAGCTCCCCCGCAAAACATCTAAAACCACACCTCAGTTTGATTCTCTGCAAGACACACAGCCCAGCCCCCTCTGAATAAACACTTTCCCAATTCACTGTCTCTGTCTTGCTTCCTGCTGCCCCCACCAAGCCCTTGGCCCAGGTCCTTACCAAGGACTTCTGCTCCAGTGCTTACCAAGAACATCCACAGT... |
Task1_train_1976 | This gene mutation involves NECTIN4 (nectin cell adhesion molecule 4) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1 | TTTTATGCACTCACATAAATATATAAAATATTAATATCGAAATATTGTGTTATATTTCACAATTTAAAAGTTAGACAAGGCCGGGCATGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCAC... | TTTTATGCACTCACATAAATATATAAAATATTAATATCGAAATATTGTGTTATATTTCACAATTTAAAAGTTAGACAAGGCCGGGCATGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCAC... |
Task1_train_1977 | A sequence alteration has been identified in NECTIN4 (nectin cell adhesion molecule 4) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1 | GTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCT... | GTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCT... |
Task1_train_1978 | A variant found in Chromosome 1 affects NECTIN4 (nectin cell adhesion molecule 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1 | GTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAA... | GTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAA... |
Task1_train_1979 | Gene LOC126805894, UFC1 (MED14-independent group 3 enhancer GRCh37_chr1:161123368-161124567| ubiquitin-fold modifier conjugating enzyme 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurodevelopmental disorder with spasticity and poor growth | TGTCTCAAAAACAAAACAAAACAAACAAACAAAAAAACTTACTGCCACAGGCTGGAATGATTCACTGAATAAACAGTGAAATAAACATAAATAAAATAAATAAATATATTTTTAAAAATTTTGGTCTTACTTTGACCCCCCAGGCTGGAGTGAAGTGGTATAATCTTGGCTCATTTGCAATCTCGACCTCCGGGGTTCAAGAGATCCTCCTGCTTCAGCCCCCAAAATAGTTGGGACTACAGGTGCCCGCCACCACTCCGGCTAATTTTTGTATTTTTTGTACAGCTGGGGTTTCACCACGTTGCCTAAGCTATTTTCGA... | TGTCTCAAAAACAAAACAAAACAAACAAACAAAAAAACTTACTGCCACAGGCTGGAATGATTCACTGAATAAACAGTGAAATAAACATAAATAAAATAAATAAATATATTTTTAAAAATTTTGGTCTTACTTTGACCCCCCAGGCTGGAGTGAAGTGGTATAATCTTGGCTCATTTGCAATCTCGACCTCCGGGGTTCAAGAGATCCTCCTGCTTCAGCCCCCAAAATAGTTGGGACTACAGGTGCCCGCCACCACTCCGGCTAATTTTTGTATTTTTTGTACAGCTGGGGTTTCACCACGTTGCCTAAGCTATTTTCGA... |
Task1_train_1980 | This alteration occurs within gene UFC1 (ubiquitin-fold modifier conjugating enzyme 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurodevelopmental disorder with spasticity and poor growth | CAATCTAAACTAGGCAGTTGTGAGGATAGAGAGGAGAGGTAGATTTGTAGAATATTCAGAAGGTAAAATTAGCATAACATGGATTAGTGTAGTAAGGGATAGGGAGGGTCAAAGATGATTCCCAGGTTTTTGCCTTGGGTGAATGCTCATACTGCCACCTGAAATTGATAATTCAGGAGGATAATTCAGGAAGTGTATCCAAAGGAATATAAAAAATTCCAGATGGAAATGCTGAGTTTGAAGTACCTGTGAAATGAAGGTCAAAACGTCAACATACAGTTGGATACTAAAGGCTGAAGTTCTGAGGAAAGATCTGGACC... | CAATCTAAACTAGGCAGTTGTGAGGATAGAGAGGAGAGGTAGATTTGTAGAATATTCAGAAGGTAAAATTAGCATAACATGGATTAGTGTAGTAAGGGATAGGGAGGGTCAAAGATGATTCCCAGGTTTTTGCCTTGGGTGAATGCTCATACTGCCACCTGAAATTGATAATTCAGGAGGATAATTCAGGAAGTGTATCCAAAGGAATATAAAAAATTCCAGATGGAAATGCTGAGTTTGAAGTACCTGTGAAATGAAGGTCAAAACGTCAACATACAGTTGGATACTAAAGGCTGAAGTTCTGAGGAAAGATCTGGACC... |
Task1_train_1981 | This variant affects gene PPOX (protoporphyrinogen oxidase) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | ACTGCCTCCCAAATGCTCCTTAACCAGGGCTTAGATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGT... | ACTGCCTCCCAAATGCTCCTTAACCAGGGCTTAGATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGT... |
Task1_train_1982 | A mutation in PPOX (protoporphyrinogen oxidase), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Variegate porphyria | GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAG... | GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAG... |
Task1_train_1983 | This mutation is located in gene PPOX (protoporphyrinogen oxidase) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Variegate porphyria, childhood-onset | GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAG... | GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAG... |
Task1_train_1984 | Consider this mutation in PPOX (protoporphyrinogen oxidase) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Variegate porphyria | CGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCAT... | CGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCAT... |
Task1_train_1985 | The variant affects gene PPOX (protoporphyrinogen oxidase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Variegate porphyria | TCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGC... | TCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGC... |
Task1_train_1986 | Gene PPOX (protoporphyrinogen oxidase), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Variegate porphyria | GTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTG... | GTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTG... |
Task1_train_1987 | Gene PPOX (protoporphyrinogen oxidase) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | CTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCA... | CTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCA... |
Task1_train_1988 | Given this variant in gene PPOX (protoporphyrinogen oxidase) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | ATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTT... | ATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTT... |
Task1_train_1989 | Here’s a variant in PPOX (protoporphyrinogen oxidase) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Variegate porphyria, childhood-onset | TCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGC... | TCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGC... |
Task1_train_1990 | This mutation is located in gene NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | ATCCAGCCCAGTGTCGGGGTGAACAGTGACTAGAATGTGATTCCCCAAGAGAGCCTCGGCGATGACAGTTTCTGGTCCTGGAGTCTATGGGTTAACCCCTGTAGCATTAGCCCCCGTCACAGTGACATCAGAATAAGAACAGGCTGTCCCAGCTAGTAGCGTCTTAGCTCCACCCTCTTCCTGGAAGCTGAAGCTGGTTCAGCAGACAGCTAGGACTTGGCTTTTTGGCATTCTGGAGGAAGGACCATTTCTACCTGATGCTCTGTCTTCCTTAAATACCTCACTCTGGCCGGGCTCACGCCTGTAATCCCAGCACTTTG... | ATCCAGCCCAGTGTCGGGGTGAACAGTGACTAGAATGTGATTCCCCAAGAGAGCCTCGGCGATGACAGTTTCTGGTCCTGGAGTCTATGGGTTAACCCCTGTAGCATTAGCCCCCGTCACAGTGACATCAGAATAAGAACAGGCTGTCCCAGCTAGTAGCGTCTTAGCTCCACCCTCTTCCTGGAAGCTGAAGCTGGTTCAGCAGACAGCTAGGACTTGGCTTTTTGGCATTCTGGAGGAAGGACCATTTCTACCTGATGCTCTGTCTTCCTTAAATACCTCACTCTGGCCGGGCTCACGCCTGTAATCCCAGCACTTTG... |
Task1_train_1991 | A variant affecting Chromosome 1, within the gene NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCAC... | GTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCAC... |
Task1_train_1992 | A variant affecting Chromosome 1, within the gene NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 6 | CAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCAT... | CAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCAT... |
Task1_train_1993 | The gene MPZ (myelin protein zero) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Dejerine-Sottas disease | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... |
Task1_train_1994 | A genetic alteration is present in MPZ (myelin protein zero) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease type 4E | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... |
Task1_train_1995 | Here’s a variant in MPZ (myelin protein zero) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Roussy-Lévy syndrome | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... |
Task1_train_1996 | With a mutation on Chromosome 1 in gene MPZ (myelin protein zero), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate D | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... |
Task1_train_1997 | Gene MPZ (myelin protein zero) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 1B | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... |
Task1_train_1998 | A mutation found in MPZ (myelin protein zero) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Charcot-Marie-Tooth disease type 2I | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... |
Task1_train_1999 | An alteration has been detected in MPZ (myelin protein zero) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Charcot-Marie-Tooth disease type 2J | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... | CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGG... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.