ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_16900 | The variant affects gene JAM3 (junctional adhesion molecule 3), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Porencephaly-microcephaly-bilateral congenital cataract syndrome | ATAGGCGTGAGCCACCACGCCTGGCCAGGGCTTAGCATTTTATTGTTGGTTTACATTCAGTTCCCCGAGCTCTTTTAAGAAGTGCATGTCTCCCTAGTAAGCCACACCTTAGAAATAAGCATATTCAGATGAGTAATGCTGTGATGGAGGCAGAGCCTCCTCAGCCCTGCTCACGGAATGCTTCCAGGACTTTGCTGCTGGCCTTATTGAGCTCTGATTCCCTTCTGCACAGGGTCAGAGCTCTCCAGGGAACAATGAAACCCTAAGGAAGAGCAGACCACTTCACAGCCACGTGTGTCCTACCCCACTCTGCTGCATCC... | ATAGGCGTGAGCCACCACGCCTGGCCAGGGCTTAGCATTTTATTGTTGGTTTACATTCAGTTCCCCGAGCTCTTTTAAGAAGTGCATGTCTCCCTAGTAAGCCACACCTTAGAAATAAGCATATTCAGATGAGTAATGCTGTGATGGAGGCAGAGCCTCCTCAGCCCTGCTCACGGAATGCTTCCAGGACTTTGCTGCTGGCCTTATTGAGCTCTGATTCCCTTCTGCACAGGGTCAGAGCTCTCCAGGGAACAATGAAACCCTAAGGAAGAGCAGACCACTTCACAGCCACGTGTGTCCTACCCCACTCTGCTGCATCC... |
Task1_train_16901 | This sequence variant lies in JAM3 (junctional adhesion molecule 3) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Porencephaly-microcephaly-bilateral congenital cataract syndrome | TAGGCGTGAGCCACCACGCCTGGCCAGGGCTTAGCATTTTATTGTTGGTTTACATTCAGTTCCCCGAGCTCTTTTAAGAAGTGCATGTCTCCCTAGTAAGCCACACCTTAGAAATAAGCATATTCAGATGAGTAATGCTGTGATGGAGGCAGAGCCTCCTCAGCCCTGCTCACGGAATGCTTCCAGGACTTTGCTGCTGGCCTTATTGAGCTCTGATTCCCTTCTGCACAGGGTCAGAGCTCTCCAGGGAACAATGAAACCCTAAGGAAGAGCAGACCACTTCACAGCCACGTGTGTCCTACCCCACTCTGCTGCATCCC... | TAGGCGTGAGCCACCACGCCTGGCCAGGGCTTAGCATTTTATTGTTGGTTTACATTCAGTTCCCCGAGCTCTTTTAAGAAGTGCATGTCTCCCTAGTAAGCCACACCTTAGAAATAAGCATATTCAGATGAGTAATGCTGTGATGGAGGCAGAGCCTCCTCAGCCCTGCTCACGGAATGCTTCCAGGACTTTGCTGCTGGCCTTATTGAGCTCTGATTCCCTTCTGCACAGGGTCAGAGCTCTCCAGGGAACAATGAAACCCTAAGGAAGAGCAGACCACTTCACAGCCACGTGTGTCCTACCCCACTCTGCTGCATCCC... |
Task1_train_16902 | A genomic change on Chromosome 11 affects JAM3 (junctional adhesion molecule 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Porencephaly-microcephaly-bilateral congenital cataract syndrome | TCAGTGCAGGGCTGCACCAGAGGCACCCTGGTGGGGTTTATTTACTCTTTTCTCACATGGTAAAGGTTCGAATCCTCCACTAATGGGTGGGTGTATAACAAAGCTTCCCATTCGAAAATGTTGTTGCCAACGTCTGTGCTCCATCGGAAGCATCTTTTAGTGTGCTGTTTTTAGTGTATTATGGCAAGCCCTTCATGTCCTTGTCAGCAGTTGTCAGGTTTAGCGATGAGTAGTTGCTACTCTTTTGTGTCATGTTTTCCTAACTCCTTCCCCTATTTGTTGTTTTCCAGGTTCTTCCTGCTTCTTTGAAAGTGTTATTA... | TCAGTGCAGGGCTGCACCAGAGGCACCCTGGTGGGGTTTATTTACTCTTTTCTCACATGGTAAAGGTTCGAATCCTCCACTAATGGGTGGGTGTATAACAAAGCTTCCCATTCGAAAATGTTGTTGCCAACGTCTGTGCTCCATCGGAAGCATCTTTTAGTGTGCTGTTTTTAGTGTATTATGGCAAGCCCTTCATGTCCTTGTCAGCAGTTGTCAGGTTTAGCGATGAGTAGTTGCTACTCTTTTGTGTCATGTTTTCCTAACTCCTTCCCCTATTTGTTGTTTTCCAGGTTCTTCCTGCTTCTTTGAAAGTGTTATTA... |
Task1_train_16903 | This mutation is located in gene JAM3 (junctional adhesion molecule 3) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Porencephaly-microcephaly-bilateral congenital cataract syndrome | TGGGCGGTCCTTCCTGGAAATGAGGAGGAGGAGGTGAAGTTCCTGGTTTTAATGACGGAGACACATGGTAATGAGTGTGTCTTGCACACCAGGAACTATTTTTGGTGTTTAGGTTACAGATAGGAATAGGTCATGGTTCCTGTCCTCAAGAGAGTTCACTTCTGTACTCGGGAATAGAAATAAATATTGATCTGCAGGCTTCCTTGCTGTGGCATCTAGTGCTAGCCCCAGAAACCACCCTCTTCAAGTGGCAAAGATTTCTTTAAAGAAGTTTTTTAGTGCCTCGTGTCTTTTCTGTAGGAGACTTGGCGGGTCGTGCA... | TGGGCGGTCCTTCCTGGAAATGAGGAGGAGGAGGTGAAGTTCCTGGTTTTAATGACGGAGACACATGGTAATGAGTGTGTCTTGCACACCAGGAACTATTTTTGGTGTTTAGGTTACAGATAGGAATAGGTCATGGTTCCTGTCCTCAAGAGAGTTCACTTCTGTACTCGGGAATAGAAATAAATATTGATCTGCAGGCTTCCTTGCTGTGGCATCTAGTGCTAGCCCCAGAAACCACCCTCTTCAAGTGGCAAAGATTTCTTTAAAGAAGTTTTTTAGTGCCTCGTGTCTTTTCTGTAGGAGACTTGGCGGGTCGTGCA... |
Task1_train_16904 | A variant has been detected on Chromosome 11 in NCAPD3 (non-SMC condensin II complex subunit D3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Microcephaly 22, primary, autosomal recessive | AGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACAGTGAGATGAGCTTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGAGAGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGC... | AGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGGGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGGGCACAGTGAGATGAGCTTAGGGAGAGCAGCACACTCACTTGTGAGATGAGCTTGGGGGAGGCGCACACTCGTGAGATGAGCTTAGGGGAGCTGCACACTCACTAGTGAGATGAGCTTGGAGAGGCACACTCACTAGTGAGATGAGCTTGGGGGAGCAGCACACTCACTTGTGAGATGAGC... |
Task1_train_16905 | Gene ACAD8 (acyl-CoA dehydrogenase family member 8) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Deficiency of isobutyryl-CoA dehydrogenase | TCATCCTTTGTGTGAATGGATCTTATTTATTTATTTTTTTGAGATGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCAACTCACCGCAACCTCTGCCCCACGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCACATGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACAAGCTGGACTTGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCCAAAGTCTGGGATTACAGGCATGAGCCACTGCGCCTGGC... | TCATCCTTTGTGTGAATGGATCTTATTTATTTATTTTTTTGAGATGGAGTCTCTTTCTGTTGCCCAGGCTGGAGTACAGTGGTGCGATCTCAACTCACCGCAACCTCTGCCCCACGGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGCACATGCCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGACAAGCTGGACTTGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCCAAAGTCTGGGATTACAGGCATGAGCCACTGCGCCTGGC... |
Task1_train_16906 | A sequence alteration has been identified in ACAD8 (acyl-CoA dehydrogenase family member 8) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Deficiency of isobutyryl-CoA dehydrogenase | TCCTAATCTGATTCCAGATCATTTCGTTGACTTTTGTCTATCCTTTTTATACTCTCTTGGACTGCCTCTCTGATCTGCAGTCACTGCAGCGACCTTTTACCTCACCTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGGAGGACCCAGTGGTGTTCCCAGACGCTGTGAGAACTCAAGCA... | TCCTAATCTGATTCCAGATCATTTCGTTGACTTTTGTCTATCCTTTTTATACTCTCTTGGACTGCCTCTCTGATCTGCAGTCACTGCAGCGACCTTTTACCTCACCTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGTCTCTGTGCCATTGGACCTTATTGTCAGGAGGACCCAGTGGTGTTCCCAGACGCTGTGAGAACTCAAGCA... |
Task1_train_16907 | A variant found in Chromosome 11 affects ACAD8 (acyl-CoA dehydrogenase family member 8). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Deficiency of isobutyryl-CoA dehydrogenase | GTGGCTGTTGGACAGGAAACAATTCAGGTTATGAGACTCTGCCACCTGCCAGCCCAACTCCTGCTCTATTTCAGAAAACAGGTTTGCATACTTGCTAACCTACCTTTGAAGCAGTTGCTTCTATTAGGATTTTCAACAGGAGCATATGAAATACAACAGGGCATTATTAAACACTAGGCCTCTGGGGAAAGTGACAATGTTTGCCAGTAAATTCTTCAAGCCACCTGTGAGTGTTCTGACCTCTCCTGCCTCTGCTTTTGGCCTGTGTTCCTTATCCAGCTGCTTACGTTGGTGCACTTTGTTGCTCCAGGAAGAGACGC... | GTGGCTGTTGGACAGGAAACAATTCAGGTTATGAGACTCTGCCACCTGCCAGCCCAACTCCTGCTCTATTTCAGAAAACAGGTTTGCATACTTGCTAACCTACCTTTGAAGCAGTTGCTTCTATTAGGATTTTCAACAGGAGCATATGAAATACAACAGGGCATTATTAAACACTAGGCCTCTGGGGAAAGTGACAATGTTTGCCAGTAAATTCTTCAAGCCACCTGTGAGTGTTCTGACCTCTCCTGCCTCTGCTTTTGGCCTGTGTTCCTTATCCAGCTGCTTACGTTGGTGCACTTTGTTGCTCCAGGAAGAGACGC... |
Task1_train_16908 | This variant affects gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) located on Chromosome 12. Evaluate its biological effect and specify any disease association. | Pathogenic; Brugada syndrome 3 | CTAGGTGAAAATGTTCACATGGCTAAGCCAGGTCATGTGCTCTTCACAGGTTCCTGTGGGGACGGGGTGGAGGTGGGGGTGATAGGTTCTGGAAAGCAGGTCACATGGGGAGCAAAGTTATCTTGGAGGTCAAACATAGAAGGATCAGCCCAAGATAAGAGTTGGGGAGGTGGCTGGGAGAGGCGCCAAGTGTTCATCTGTGTCTTAACAGGTGAGGAGAGGGAGGGGGTCAATAAGGTTGAGCCAGCAACCTTAGGACCCAGCAGCTTCCCTGGAAGACCCTGTGCACATGGACCAGAAAAGGCCACTGTGGGCGGCCT... | CTAGGTGAAAATGTTCACATGGCTAAGCCAGGTCATGTGCTCTTCACAGGTTCCTGTGGGGACGGGGTGGAGGTGGGGGTGATAGGTTCTGGAAAGCAGGTCACATGGGGAGCAAAGTTATCTTGGAGGTCAAACATAGAAGGATCAGCCCAAGATAAGAGTTGGGGAGGTGGCTGGGAGAGGCGCCAAGTGTTCATCTGTGTCTTAACAGGTGAGGAGAGGGAGGGGGTCAATAAGGTTGAGCCAGCAACCTTAGGACCCAGCAGCTTCCCTGGAAGACCCTGTGCACATGGACCAGAAAAGGCCACTGTGGGCGGCCT... |
Task1_train_16909 | Gene CACNA1C (calcium voltage-gated channel subunit alpha1 C), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | AGTGGCAGACATGAAAGCTCTGAACCATCATGGGTTGGGGATAAGGAGATGGGCTAAGGGGCTGTGTGACAGCTCCACTATTCCCACTCCCACAAACATCCTCAGGTTCCCCTGTGCTGTGTTGTCTCATGTTTTCTTCTTCAACATTGCCCTGATGTACATTTTAACCCAACATCACCTGACTTTAAAAGATTGGAGCTTCCCACGTCCTGTGATTTGTTTGTGGTTCACAACCCCAAGGCAGCTGCCTCCCTAAACCAATTTTATGGCACAAAAATGGGCAGGAAGGGAAGGACGAATCTGCCTCTGAGATGCTGATG... | AGTGGCAGACATGAAAGCTCTGAACCATCATGGGTTGGGGATAAGGAGATGGGCTAAGGGGCTGTGTGACAGCTCCACTATTCCCACTCCCACAAACATCCTCAGGTTCCCCTGTGCTGTGTTGTCTCATGTTTTCTTCTTCAACATTGCCCTGATGTACATTTTAACCCAACATCACCTGACTTTAAAAGATTGGAGCTTCCCACGTCCTGTGATTTGTTTGTGGTTCACAACCCCAAGGCAGCTGCCTCCCTAAACCAATTTTATGGCACAAAAATGGGCAGGAAGGGAAGGACGAATCTGCCTCTGAGATGCTGATG... |
Task1_train_16910 | This alteration in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Long qt syndrome 8 | ATGGGCATGCTCAGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAG... | ATGGGCATGCTCAGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAG... |
Task1_train_16911 | Chromosome 12 houses a mutation in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Long QT syndrome | ATGGGCATGCTCAGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAG... | ATGGGCATGCTCAGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAG... |
Task1_train_16912 | Gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Timothy syndrome | AGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAGCCCAAGGGCTGA... | AGTAAACCCACGTTCAATTGAATTTCACGATGGCATGGCCAAGTGGGCACACACTGGGAATCTTCTTGCCCCAGACACGATATTTGCACTATGCACAATGATTATGTTGGGTGAATTTTCCTAACCAAAATTTAGTAATATCAGATACATCTCAATGGATCTGTAAAGAACATATTGGGATGTAACACTTCATACCAGTCAGACTAGCTAGGTGTCTCGGTACTTCTCAGTCTTTTATTCCCGGCATGCAGAGAACATGTTTATCCAGCGTACTTAGACAAATGCATGTGGCTGCTGAAGCTGCAAAGCCCAAGGGCTGA... |
Task1_train_16913 | A sequence alteration has been identified in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Long QT syndrome | AGCATAGCCTAGAATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTG... | AGCATAGCCTAGAATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTG... |
Task1_train_16914 | Consider a variant on Chromosome 12 in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C). Determine its clinical classification and disease relevance. | Pathogenic; Long qt syndrome 8 | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... |
Task1_train_16915 | Assess the clinical impact of this variant on gene CACNA1C (calcium voltage-gated channel subunit alpha1 C), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Timothy syndrome | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... |
Task1_train_16916 | Consider a variant on Chromosome 12 in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C). Determine its clinical classification and disease relevance. | Pathogenic; Cardiovascular phenotype | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... |
Task1_train_16917 | A variant found in Chromosome 12 affects CACNA1C (calcium voltage-gated channel subunit alpha1 C). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Long QT syndrome | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... |
Task1_train_16918 | A genetic alteration is present in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Brugada syndrome 3 | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... |
Task1_train_16919 | The gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Long qt syndrome 8 | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... |
Task1_train_16920 | A variant found in Chromosome 12 affects CACNA1C (calcium voltage-gated channel subunit alpha1 C). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... |
Task1_train_16921 | The variant affects gene CACNA1C (calcium voltage-gated channel subunit alpha1 C), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Timothy syndrome | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... |
Task1_train_16922 | A variant on Chromosome 12 in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; CACNA1C-related disorder | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... | AATCACCTGGGATGGTTAATATGCAGACTGTGGGCCACCCTGAGATCTTGGGGGCATGGGGCAGGAATCTGCTTTGTTCATAACTCTCCCAGATGTTTCTGATGCTGGTGGTCCTTGGACCACACTTTGAGGAACACTGCTATGCAACCTTGTGGAGGTACATGGAGAGCCACACACTTGTGTTGTTACATTTGAAATTGGGAGCTATGGAGAGAACAATGTGATCAGTGGTGCTCAAGCATGCATCAGAATCACCTGTAGGGCCGTCAAAACGTGGGTTGCTGGGCCTTCCCCACAGTGTCAGGGTGAGGTCTAGGTAT... |
Task1_train_16923 | This genomic variant is located on Chromosome 12, within the CACNA1C (calcium voltage-gated channel subunit alpha1 C) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Timothy syndrome | TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATT... | TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATT... |
Task1_train_16924 | Given a variant located on Chromosome 12 and affecting CACNA1C (calcium voltage-gated channel subunit alpha1 C), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Long qt syndrome 8 | TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATT... | TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATT... |
Task1_train_16925 | An alteration has been detected in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Long QT syndrome | TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATT... | TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATT... |
Task1_train_16926 | This mutation occurs in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cardiovascular phenotype | TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATT... | TGGAAAAATACAGATATTCATGGACTTTATCACCAGGATTCTACTTTGTTTCTCCTCCTGCCTTCATTACCCAGGCAGGAGCTGTATCTTCAATGCCTCGTGGGTCTGCGTACAAGCCCTACAGGTGCCCCAAAGCCATGTGCAGAGCTAAGCACCCCATTTTTCTCATAACTGACCCCTCTGCCTGGAGCTCTACTCCCGCTCCTCTGGCCCTCCTCTGTGCTGCCCTCCCAAATCGCCCCAGCTAAAAATGTTGGCAGTCCCTTCCATACCTGTCTTTCTTATTCTGCACATCCGCTCATCTCAAGGGACTATTGATT... |
Task1_train_16927 | This genomic variant is located on Chromosome 12, within the CACNA1C (calcium voltage-gated channel subunit alpha1 C) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Long qt syndrome 8 | CAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCA... | CAGGTTTGAGAATCACTGACAAAGGCTCCTAAACCAAGATACGGGGAAGAGTCCATGGAGCATGGATGAGCTTTGAGGGGTCTGTGTGCTGTGTGGGCTCTCAAGTAAAGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCA... |
Task1_train_16928 | A change on Chromosome 12 affects gene CACNA1C (calcium voltage-gated channel subunit alpha1 C). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Timothy syndrome | AGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTAC... | AGGTGTGTGTGTGGGCATGTGCCCATTTTTCTGAAAGGCAGATCTAAACATTCATCAGATTCTGGAAAGATTCTATAACCCAGAAAAACAAAGAGCCTGTGCTCCAGATGAACCCCTTCTACCATATGGATGTGGCACACACAGTCAGGGCCAAGAGGCTGGGCAGAAAACTACGGATGGCTCTGCCTGCTGTGATATTGGTCGAGTACTCAACCTCCCCAGCCCTGAGTTTTCTCCTCCACAAAAATCAGGATAATGCGTGCTTTGCAGAGTTACTGAAAGAATTGGAGAGAAGGCATGAGAAGTGCCTGATGTGGTAC... |
Task1_train_16929 | A genetic alteration is present in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TTATTAATTAATTAATTAATATTTTAGGACAGGGTCTCACTCCGTCACCCAGGATGAAGGGCAATGGTGCAAACATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTTCCATCTCAGTCTCCCCAGTAGGTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTTAATTTTTTAAAGATGAGGTCTCACACTGCTGCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCTGCCTTGACCTCCTAAAGTGACAATCCTCCCAAAGGGGGTTATAGGCATGAGCCACCACCATGCCCAGC... | TTATTAATTAATTAATTAATATTTTAGGACAGGGTCTCACTCCGTCACCCAGGATGAAGGGCAATGGTGCAAACATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTTCCATCTCAGTCTCCCCAGTAGGTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTTAATTTTTTAAAGATGAGGTCTCACACTGCTGCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCTGCCTTGACCTCCTAAAGTGACAATCCTCCCAAAGGGGGTTATAGGCATGAGCCACCACCATGCCCAGC... |
Task1_train_16930 | The gene CACNA1C (calcium voltage-gated channel subunit alpha1 C), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | CCGTCACCCAGGATGAAGGGCAATGGTGCAAACATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTTCCATCTCAGTCTCCCCAGTAGGTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTTAATTTTTTAAAGATGAGGTCTCACACTGCTGCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCTGCCTTGACCTCCTAAAGTGACAATCCTCCCAAAGGGGGTTATAGGCATGAGCCACCACCATGCCCAGCCACCTCTACTGATGTTGATCACCGGGCAGGCTTGGGAAAAC... | CCGTCACCCAGGATGAAGGGCAATGGTGCAAACATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGTGATCCTTCCATCTCAGTCTCCCCAGTAGGTGGGACTACAGGCATGCACCACCACACCCAGCTAATTTTTTAATTTTTTAAAGATGAGGTCTCACACTGCTGCCCAAGCTGGTCTCAAACTCCTGGCCTCAAGCAGTCCTCCTGCCTTGACCTCCTAAAGTGACAATCCTCCCAAAGGGGGTTATAGGCATGAGCCACCACCATGCCCAGCCACCTCTACTGATGTTGATCACCGGGCAGGCTTGGGAAAAC... |
Task1_train_16931 | A variant was discovered in gene CACNA1C (calcium voltage-gated channel subunit alpha1 C), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GCCCACTCAGAGGACTCGTGCTTTGAGCTGCCCCAGTGGGTGTGACAGGTTTGCTATAATCTAGGATTTCCCAGACTCACCTGCTGATCAGAATCCTGTAGGATGCTTGTTAGAAACAAAGATATCTGGGCCCCAAACTACAGCTAATGAATCACAATCTCAAGAGGAAAGGCCCTTAAAGAAACAATTCTTAGGACAGCGTAAACTTGGGAAACCACCAAGCCATGAACTCTCTCTTACCCGTGGGTGACCTAATTCCTGCCTCTGCTAGAAGGCTGCTGCCTATAGGCTGAGCTCAGACTGGCATTCATGGTGGGGGA... | GCCCACTCAGAGGACTCGTGCTTTGAGCTGCCCCAGTGGGTGTGACAGGTTTGCTATAATCTAGGATTTCCCAGACTCACCTGCTGATCAGAATCCTGTAGGATGCTTGTTAGAAACAAAGATATCTGGGCCCCAAACTACAGCTAATGAATCACAATCTCAAGAGGAAAGGCCCTTAAAGAAACAATTCTTAGGACAGCGTAAACTTGGGAAACCACCAAGCCATGAACTCTCTCTTACCCGTGGGTGACCTAATTCCTGCCTCTGCTAGAAGGCTGCTGCCTATAGGCTGAGCTCAGACTGGCATTCATGGTGGGGGA... |
Task1_train_16932 | This alteration in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Long QT syndrome | GCTGCGGCTTCCCTGTGTGTGAAATGATATGAATGTCTGGGTGCCTGGGGCCGGGGGTCAGACTTCACAGACTTAAAGCCCCCTTCCAGCTATGCTTTCGTTGATTCTGCAGTTCTCTGACCCACAGTGTTTCTGTTGGTGGAGTGGGGAGGAGAAAGGGCAAAGAACTGTCTCCACTGGGAACTCCCAAGCCTTGGCTGGCTCCAGATGGACCCTCCAAGGGTCTTCGTGGGTGCAGGCTCACATTAAGAGTTGGCAGAGATACCAAGCCACCCCCTCAGCGCCCAGTTATAATAAACCGCTCTTAAGAGCGTTCTGCA... | GCTGCGGCTTCCCTGTGTGTGAAATGATATGAATGTCTGGGTGCCTGGGGCCGGGGGTCAGACTTCACAGACTTAAAGCCCCCTTCCAGCTATGCTTTCGTTGATTCTGCAGTTCTCTGACCCACAGTGTTTCTGTTGGTGGAGTGGGGAGGAGAAAGGGCAAAGAACTGTCTCCACTGGGAACTCCCAAGCCTTGGCTGGCTCCAGATGGACCCTCCAAGGGTCTTCGTGGGTGCAGGCTCACATTAAGAGTTGGCAGAGATACCAAGCCACCCCCTCAGCGCCCAGTTATAATAAACCGCTCTTAAGAGCGTTCTGCA... |
Task1_train_16933 | Gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Long QT syndrome | CTGTGCCAGGCATTTTTTTTTTCTTTGCAGTACCTGGCTTTGTTTGAACCAGAAGAGGGAGAACATGCAGAGGCACAGCTGTGTCCATGAGACGAGCATCCCATAACTATCTTTCTCCAGCCAGACTAGTATCCCCTTCACCTTCATCTTATACAGAGTCCCCTTCCTTCTGACCGGTGTGGAAGTTCAATCATCATCAAGAAATAAGGGCTTCTAGTGCCAGGCAAAGCTTTTCTTTCCAGGGTTTTCAGCACATAGGGAGAAGGGACAGACATTTAAAATCAGTCATCAAGGTACTGGAGGCAGAGGTTCTGCTGGGA... | CTGTGCCAGGCATTTTTTTTTTCTTTGCAGTACCTGGCTTTGTTTGAACCAGAAGAGGGAGAACATGCAGAGGCACAGCTGTGTCCATGAGACGAGCATCCCATAACTATCTTTCTCCAGCCAGACTAGTATCCCCTTCACCTTCATCTTATACAGAGTCCCCTTCCTTCTGACCGGTGTGGAAGTTCAATCATCATCAAGAAATAAGGGCTTCTAGTGCCAGGCAAAGCTTTTCTTTCCAGGGTTTTCAGCACATAGGGAGAAGGGACAGACATTTAAAATCAGTCATCAAGGTACTGGAGGCAGAGGTTCTGCTGGGA... |
Task1_train_16934 | Given this context: Chromosome 12, gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cardiovascular phenotype | GGCATTTTTTTTTTCTTTGCAGTACCTGGCTTTGTTTGAACCAGAAGAGGGAGAACATGCAGAGGCACAGCTGTGTCCATGAGACGAGCATCCCATAACTATCTTTCTCCAGCCAGACTAGTATCCCCTTCACCTTCATCTTATACAGAGTCCCCTTCCTTCTGACCGGTGTGGAAGTTCAATCATCATCAAGAAATAAGGGCTTCTAGTGCCAGGCAAAGCTTTTCTTTCCAGGGTTTTCAGCACATAGGGAGAAGGGACAGACATTTAAAATCAGTCATCAAGGTACTGGAGGCAGAGGTTCTGCTGGGATCCATGGA... | GGCATTTTTTTTTTCTTTGCAGTACCTGGCTTTGTTTGAACCAGAAGAGGGAGAACATGCAGAGGCACAGCTGTGTCCATGAGACGAGCATCCCATAACTATCTTTCTCCAGCCAGACTAGTATCCCCTTCACCTTCATCTTATACAGAGTCCCCTTCCTTCTGACCGGTGTGGAAGTTCAATCATCATCAAGAAATAAGGGCTTCTAGTGCCAGGCAAAGCTTTTCTTTCCAGGGTTTTCAGCACATAGGGAGAAGGGACAGACATTTAAAATCAGTCATCAAGGTACTGGAGGCAGAGGTTCTGCTGGGATCCATGGA... |
Task1_train_16935 | Here is a genetic alteration in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | CCTTCCAGGGAAAGCTGTACACCTGTTCAGACAGTTCCAAGCAGACAGAGGCGGAATGCAAGTGAGTAGAGGTGGGAGGGCAGCCAGGGCCACGGCCGGTCAGCCCCAGGAGGCTGGAGGCTTGACCAGAAAGGAGGGACAGCTCATTTTCTAAGACTGCAGTGGCACCTGCGCTCTGCCTGTGTGTCATCTGGCCTCACGGACACAATGTGTAGCATTTTTTGTTCCTGAAGTTTCTGCCCACTGAAGCTCCTCCCATGGCTAGAACGGTGAAGTTCAAGCCAGGCAGTCCCATCCCACCCAGCATTCAAGGTCACTGG... | CCTTCCAGGGAAAGCTGTACACCTGTTCAGACAGTTCCAAGCAGACAGAGGCGGAATGCAAGTGAGTAGAGGTGGGAGGGCAGCCAGGGCCACGGCCGGTCAGCCCCAGGAGGCTGGAGGCTTGACCAGAAAGGAGGGACAGCTCATTTTCTAAGACTGCAGTGGCACCTGCGCTCTGCCTGTGTGTCATCTGGCCTCACGGACACAATGTGTAGCATTTTTTGTTCCTGAAGTTTCTGCCCACTGAAGCTCCTCCCATGGCTAGAACGGTGAAGTTCAAGCCAGGCAGTCCCATCCCACCCAGCATTCAAGGTCACTGG... |
Task1_train_16936 | A genomic change on Chromosome 12 affects CACNA1C (calcium voltage-gated channel subunit alpha1 C). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Timothy syndrome | GAATCGCAGGGCTGCCGCGTGGCCCAGAACACAGCTGACACAAGGAGGAGCCCTCCACTCTGGGGCCCTGCTCCTTCCTCTGTGTGGCAGAACTCGGCCGCTCTGCCTGGCTCCCTGTTTCCGCACCGAGAGGCCTAGACGAAGCATGTGGTTTCCAAGGCAGGCTCAGAGCCCCAGAAGGCCAGGTGGTAAAGGAGGGATGGGAGCTAAGGGGAGGCAGAAAGGGTCTGCCTTACTTTTAACCATCGTTTATGTCTTTCTGCACAAGAATTTACTGGACAAAGGGGTTTTGTGGTAAGGAACAAACCTGAAAAACACGG... | GAATCGCAGGGCTGCCGCGTGGCCCAGAACACAGCTGACACAAGGAGGAGCCCTCCACTCTGGGGCCCTGCTCCTTCCTCTGTGTGGCAGAACTCGGCCGCTCTGCCTGGCTCCCTGTTTCCGCACCGAGAGGCCTAGACGAAGCATGTGGTTTCCAAGGCAGGCTCAGAGCCCCAGAAGGCCAGGTGGTAAAGGAGGGATGGGAGCTAAGGGGAGGCAGAAAGGGTCTGCCTTACTTTTAACCATCGTTTATGTCTTTCTGCACAAGAATTTACTGGACAAAGGGGTTTTGTGGTAAGGAACAAACCTGAAAAACACGG... |
Task1_train_16937 | The gene CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | GGCATTGCACTAAGCACTTTATAAGCCTTAAATCTTTTCAACCACAAAACCGCTGAGAGGTATTATTATTGTTTCCATTTTTCTGATGAGGAGACTGAAGTTCAGAGAAGTTAAGTGCCCCAACCCTCACAGATAGAAAGTGGCAGAAACAGGATTTGAACCCATGATCTTTCTTTTAAATTTTTCCTTATTAAATGTTTCCATTGCAATAGTAATACCCGCTCACTACAACTAGTGGGATGGAATTAAGCTGTGTAAAGAAAGGGTGTAACTTGCCACCACCCCACTCCTCCACAGGTAACCACAGTCAGCGGGGTGCT... | GGCATTGCACTAAGCACTTTATAAGCCTTAAATCTTTTCAACCACAAAACCGCTGAGAGGTATTATTATTGTTTCCATTTTTCTGATGAGGAGACTGAAGTTCAGAGAAGTTAAGTGCCCCAACCCTCACAGATAGAAAGTGGCAGAAACAGGATTTGAACCCATGATCTTTCTTTTAAATTTTTCCTTATTAAATGTTTCCATTGCAATAGTAATACCCGCTCACTACAACTAGTGGGATGGAATTAAGCTGTGTAAAGAAAGGGTGTAACTTGCCACCACCCCACTCCTCCACAGGTAACCACAGTCAGCGGGGTGCT... |
Task1_train_16938 | Consider this mutation in CACNA1C (calcium voltage-gated channel subunit alpha1 C) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Long qt syndrome 8 | GGACTTTGGGGACTCGGAGAAGGGCAGGAGGATGGTAGGGATCAAAGACGACTGCTTGGGTGATGGGTGCAGCGAAATGTCAGAGATCACCACTGAAGGGCTTGTCCGTGTAAGCAAAAACCACCTGTTCCCAAAAAACTATTGGAAATTTTAAAAAAGAATAGAGAATAGAGTATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTCGGCTCACTGCAAACTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGA... | GGACTTTGGGGACTCGGAGAAGGGCAGGAGGATGGTAGGGATCAAAGACGACTGCTTGGGTGATGGGTGCAGCGAAATGTCAGAGATCACCACTGAAGGGCTTGTCCGTGTAAGCAAAAACCACCTGTTCCCAAAAAACTATTGGAAATTTTAAAAAAGAATAGAGAATAGAGTATCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTCGGCTCACTGCAAACTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGA... |
Task1_train_16939 | This mutation occurs in TULP3 (TUB like protein 3) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hepatorenocardiac degenerative fibrosis | CTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACGCCATCTCAAAATAAAATAAGAATAATCTGCTTGGCTTGACAGGCATTTTTAATACCTAGTGCAGGCCTTATTTAACCACAACTAATTTTCACTGTATGTAATATAGTGCTATGCCCTCACTGGGAAATAAATATGTGTTGGTGCTGACAAAGTTGAACAGTTTGTTCACAGTTATCTCAAATCACATTTAAGACTCAAGAGTAAGAGGCCGGGCGTGGTGGCTCACTCCTGTAGTCACAGCAC... | CTTGAACCCAGGAGGCAGAGGTTGCAATGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACGCCATCTCAAAATAAAATAAGAATAATCTGCTTGGCTTGACAGGCATTTTTAATACCTAGTGCAGGCCTTATTTAACCACAACTAATTTTCACTGTATGTAATATAGTGCTATGCCCTCACTGGGAAATAAATATGTGTTGGTGCTGACAAAGTTGAACAGTTTGTTCACAGTTATCTCAAATCACATTTAAGACTCAAGAGTAAGAGGCCGGGCGTGGTGGCTCACTCCTGTAGTCACAGCAC... |
Task1_train_16940 | Here is a genetic alteration in TULP3 (TUB like protein 3) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hepatorenocardiac degenerative fibrosis | CACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGATCCACTGCCCCGGCTGATACAGCTGATATTGTCAGCATCTTACATTCCCAAGAAAGTCTCATGTTATAAAAGAATGTGGTCTCTATTTTTTTCCTGTTTCCAAGTTCTG... | CACTGCAGCCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTTATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGATCCACTGCCCCGGCTGATACAGCTGATATTGTCAGCATCTTACATTCCCAAGAAAGTCTCATGTTATAAAAGAATGTGGTCTCTATTTTTTTCCTGTTTCCAAGTTCTG... |
Task1_train_16941 | The gene CCND2 (cyclin D2), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | CCAGACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTG... | CCAGACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTG... |
Task1_train_16942 | A change on Chromosome 12 affects gene CCND2 (cyclin D2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | CCAGACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTG... | CCAGACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTG... |
Task1_train_16943 | A mutation in CCND2 (cyclin D2), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Inborn genetic diseases | GACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATA... | GACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATA... |
Task1_train_16944 | A mutation found in CCND2 (cyclin D2) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | GACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATA... | GACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATA... |
Task1_train_16945 | This sequence change occurs on Chromosome 12, altering CCND2 (cyclin D2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; CCND2-related disorder | ACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATAT... | ACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATAT... |
Task1_train_16946 | A genetic alteration is present in CCND2 (cyclin D2) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | ACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATAT... | ACACACAGTCTTGACTAAAGATTGTCAGGATCTTGACACACGCTTCATTAGTCTTGACTAAATGCGAATCTATACCTCATTTCAAAGAAATCTGAATTCTTTAGGTTCCAGGACCAGTTTATTGTTATACATAATCACGATCATTTATTGAGCTCCACTTAGCACTGCACATATATCAGTATCATCTCAGTTGCCCTTTACTCTGATTATTTTGTGGGGAAACTGAGATCAGAAAAGTTAAATAACTTAGGTGCCACCTGCAAGTATAGTGGGTGGGCAGCAGATACCACCCTTCCTCATTTCATTGTTCCAGGTGATAT... |
Task1_train_16947 | This sequence variant lies in FGF23 (fibroblast growth factor 23) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypophosphatemic rickets | AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCC... | AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCC... |
Task1_train_16948 | A variant was discovered in gene FGF23 (fibroblast growth factor 23), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal dominant hypophosphatemic rickets | AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCC... | AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCC... |
Task1_train_16949 | Here is a genetic alteration in FGF23 (fibroblast growth factor 23) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Short stature | AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCC... | AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCC... |
Task1_train_16950 | A change on Chromosome 12 affects gene FGF23 (fibroblast growth factor 23). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal dominant hypophosphatemic rickets | AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCC... | AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCC... |
Task1_train_16951 | This mutation is located in gene FGF23 (fibroblast growth factor 23) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Tumoral calcinosis, hyperphosphatemic, familial, 2 | AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCC... | AAATATCTATAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCC... |
Task1_train_16952 | A mutation on Chromosome 12 affecting FGF23 (fibroblast growth factor 23) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTC... | TAAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTC... |
Task1_train_16953 | A sequence alteration has been identified in FGF23 (fibroblast growth factor 23) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; not provided | AAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCA... | AAATATAGAAGGATAGGCAAACTTCCAAATAAATAAATAAATACTGCCACATGACGAGGGATATAAGAAATTGTAGGAGCTATTTTGGCTTTGCCATAAAGAAAACCCCTGATGGTAGTGTTGAGTTTGTGAGATTACAACTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCA... |
Task1_train_16954 | Gene FGF23 (fibroblast growth factor 23) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Tumoral calcinosis, hyperphosphatemic, familial, 2 | CTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTG... | CTAGTTTTCCACCAAAATCCTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTG... |
Task1_train_16955 | Here is a mutation in FGF23 (fibroblast growth factor 23) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Tumoral calcinosis, hyperphosphatemic, familial, 1 | CTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCT... | CTTTTGGGATCTTTCACTGAGGAGCCTCCAATAGCTATTATGCAGGATAATATTTCCAACAGGAAATGAAAACAGAAATATTAAAATATTTGCCATGCATGGCTATATACTATTATACATAGTTTTACTGTTTCAGAATAGGAACCAGTCCTTCAAGTTCAGCTTAAAACCATCAGGTAAAAACAGTTGCCCAACATTTCTCTCATAACCAAAAAGAATAGATCAAAGTATAAGGTTAGTATGTGATGGCAGTGAGAAAAAAAAAAGTGACTGGGAAGAAGCTGTTGTTGAATCGACTTTGCTTGTTAATATACTGTCCT... |
Task1_train_16956 | A change on Chromosome 12 affects gene FGF23 (fibroblast growth factor 23). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Tumoral calcinosis, hyperphosphatemic, familial, 2 | CCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTT... | CCGTGGTATGGGGGTGTTGAAGTGAATTAGGGGGATCTCGTTCCTCCGGGACAGGAACTGGGAGTACGGGGGTGGGTTCATGCCTGGCAGGAAGGCTCTCTTCGCCCGGCCCAGACTGACCAGGAAGTGATACTGAGGAGAGTGGTAGACGTCGTACCCGTTTTCCAGCGTCTGGTGTTGGAACCTGCAGTTCTCCGGGTCGAAATAGTGCTGGAAGGACAAGAGCGAACCACGTGAAGGCTGGCAGTGGGGGCCCCACCCACTCCCCAGCTCCTCCTGGGGCCACATGCTTGTGCCAGCCGGCCTGAAGCTCTGCAGTT... |
Task1_train_16957 | A mutation on Chromosome 12 affecting AKAP3 (A-kinase anchoring protein 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Spermatogenic failure 82 | GCATATTTTATTTCCAGTATTTGAGCCATAGGGTCTTGCTTGCGCCTCGATTAGCCATGTTCACATTTGAAATAAGTCCCTAATTTCAGACTCTTCAATGAACTTCCAGAATTCAAGCGGTCAATTTTCTTCTTTCTGGAGGTAAAGAAACCTCAGACGCGGCAAGCGGAGCTGTGGGCTGAAGCCCCAGGCATGGCCCGTAGGACGAGAGTGTGTCTATGGCGGTGGTGGTGGCCGTGGCATCTGCTCTTTGGGCTGCTACCCTCACCGACATTTCTACTTTGATATGTGTACTTTTTATTTTCCAAAATGAATGATAA... | GCATATTTTATTTCCAGTATTTGAGCCATAGGGTCTTGCTTGCGCCTCGATTAGCCATGTTCACATTTGAAATAAGTCCCTAATTTCAGACTCTTCAATGAACTTCCAGAATTCAAGCGGTCAATTTTCTTCTTTCTGGAGGTAAAGAAACCTCAGACGCGGCAAGCGGAGCTGTGGGCTGAAGCCCCAGGCATGGCCCGTAGGACGAGAGTGTGTCTATGGCGGTGGTGGTGGCCGTGGCATCTGCTCTTTGGGCTGCTACCCTCACCGACATTTCTACTTTGATATGTGTACTTTTTATTTTCCAAAATGAATGATAA... |
Task1_train_16958 | A variant affecting Chromosome 12, within the gene NDUFA9 (NADH:ubiquinone oxidoreductase subunit A9), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 26 | TTGAACCAAATAAAATAAAATCTTGAACTTACCATGTCACACCCTAGTGGTCTGGTTAAGGAGACTGTCACATCCATTGTGCCACAAACTGATCTTCATTTGGGTTTTCATCCATTCATTCAACAAATGTTTATTGAATGCCTACTATGTCTTAGATAATGTACTAGGTACTCAGAAGGTTACAACAAACACTCAAAAATCTTATGGTCAGAATGTTACAACAAAAACTCAAAAATCTTATGGTCTAACAGGGGTACCAGAAAAATAGACCACTAGAATGCAGGGTGATAACGATATTTATTGAGTGTTACACCTTTCAG... | TTGAACCAAATAAAATAAAATCTTGAACTTACCATGTCACACCCTAGTGGTCTGGTTAAGGAGACTGTCACATCCATTGTGCCACAAACTGATCTTCATTTGGGTTTTCATCCATTCATTCAACAAATGTTTATTGAATGCCTACTATGTCTTAGATAATGTACTAGGTACTCAGAAGGTTACAACAAACACTCAAAAATCTTATGGTCAGAATGTTACAACAAAAACTCAAAAATCTTATGGTCTAACAGGGGTACCAGAAAAATAGACCACTAGAATGCAGGGTGATAACGATATTTATTGAGTGTTACACCTTTCAG... |
Task1_train_16959 | This variant impacts the gene KCNA1 (potassium voltage-gated channel subfamily A member 1) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | TCGCTGCTCGGTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTT... | TCGCTGCTCGGTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTT... |
Task1_train_16960 | This alteration occurs within gene KCNA1 (potassium voltage-gated channel subfamily A member 1) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Episodic ataxia type 1 | TCGCTGCTCGGTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTT... | TCGCTGCTCGGTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTT... |
Task1_train_16961 | Assess the clinical impact of this variant on gene KCNA1 (potassium voltage-gated channel subfamily A member 1), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Episodic ataxia type 1 | GTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCA... | GTATTCCAGGCGCTTTCTCAGGTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCA... |
Task1_train_16962 | A genetic alteration is present in KCNA1 (potassium voltage-gated channel subfamily A member 1) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Episodic ataxia type 1 | GTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACC... | GTTTCTGCTGATCTTGCAGCGCCCAGAAATGGACCGAGCGGACCCGCCGCCGCACGCACCCTGCTCCACTCCAAGCTCCTAAGGGCTCCTGGCGCGCCGCGTAGCCTTGGCGAGGTCCGCGCTGGGGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACC... |
Task1_train_16963 | Given this context: Chromosome 12, gene KCNA1 (potassium voltage-gated channel subfamily A member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | GGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACC... | GGTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACC... |
Task1_train_16964 | The gene KCNA1 (potassium voltage-gated channel subfamily A member 1) is located on Chromosome 12, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Myokymia 1 | GTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCA... | GTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCA... |
Task1_train_16965 | A variant affecting Chromosome 12, within the gene KCNA1 (potassium voltage-gated channel subfamily A member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Episodic ataxia type 1 | GTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCA... | GTGCGGAGAGCGAAGGGAACTGGAGAGCCATGTAGATCCAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCA... |
Task1_train_16966 | A variant on Chromosome 12 in gene KCNA1 (potassium voltage-gated channel subfamily A member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Episodic ataxia type 1 | CAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTG... | CAGGCTCTCGCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTG... |
Task1_train_16967 | A variant on Chromosome 12 in gene KCNA1 (potassium voltage-gated channel subfamily A member 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | GCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCG... | GCCCGCCCGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCG... |
Task1_train_16968 | A genetic alteration is present in KCNA1 (potassium voltage-gated channel subfamily A member 1) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Myokymia 1 | CGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGC... | CGCCTCCTTCGGGATCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGC... |
Task1_train_16969 | Chromosome 12 houses a mutation in gene KCNA1 (potassium voltage-gated channel subfamily A member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Episodic ataxia type 1 | TCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCAC... | TCGAATCAAGGGCTCCCATAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCAC... |
Task1_train_16970 | A variant was discovered on Chromosome 12, affecting KCNA1 (potassium voltage-gated channel subfamily A member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Myokymia 1 with hypomagnesemia | TAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCG... | TAGTGTTAGGAGGGGGCGAGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCG... |
Task1_train_16971 | A variant affecting Chromosome 12, within the gene KCNA1 (potassium voltage-gated channel subfamily A member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | AGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCT... | AGAGTGCTGTTTATCGTCATTTGCCTCGGAGCTTCGAGAGAGGGTGGTATTTTGCTTTTCCGCCCCGCATCCTCCGGAACTCCCTGCACCGGAGAGAGGACGGCGTCTCCAGGTTGCTGGCAACCGGTGAGAATGGGGGTAGGGAAGGAACATTTTCGCCGTAGCTGCTCCGTAAAGCGATTGTCCAACTGAGAGGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCT... |
Task1_train_16972 | With a mutation on Chromosome 12 in gene KCNA1 (potassium voltage-gated channel subfamily A member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Episodic ataxia type 1 | GGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACA... | GGGGCGTCGGACGAGTGGACCAGGGCGGCGAGTTTGCCCGGCGCGTCTCGGATGCTGCTGCGGCGGCCGCCGCGGCTCCCGCCAGGGCACTGCAAAGACGACCTGCCGCATTCCCACTCGGGCTCTCCGCTGACTCAGCACCGCCCCTGCGCCAAGCCAGCCGGCCAGGTAGGGGGTTCCCCAGCTCGGGGATGCAGAAGCGGGGGTTGGGGGGACCGGGTGGGGGAGGCCGGGGGTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACA... |
Task1_train_16973 | This variant affects the gene KCNA1 (potassium voltage-gated channel subfamily A member 1) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Episodic ataxia type 1 | GTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGT... | GTGCGGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGT... |
Task1_train_16974 | This alteration in KCNA1 (potassium voltage-gated channel subfamily A member 1) on Chromosome 12 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Episodic ataxia type 1 | GGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGA... | GGGGATGCTGTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGA... |
Task1_train_16975 | Gene KCNA1 (potassium voltage-gated channel subfamily A member 1), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Episodic ataxia type 1 | GTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAG... | GTCCGGGACCCTGAGCTTCCCCCGGCGTCTCTCGGCGCTTTTCCGATCTCTAGTTTAACGAAGTTGTAAACAGATCGGCTGTTGGGCATTGGGGAAAGTGGGATGGAAGAGCCCCAAACTTGGATTTCCGGGTGTCTGCGTGTCGTCTGTCCGTGTGTGTGTGATAGCCCTAGCAAACGTCCAGTGCTTTCTCAAGCTAGAGGTCTGTGTTCTTCGGTGTCTGTAGGTCCGTCCCATCTGAATGCTTCTGATTTTCTACCCCCGTATCACTTTCTATTTCTCTGCAGCGTGCATCGATCGCCCTGGTGGGAGCTTAGAAG... |
Task1_train_16976 | Consider this mutation in KCNA5 (potassium voltage-gated channel subfamily A member 5) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Atrial fibrillation, familial, 7 | CCTTCACATATAAACTCTTAAAAAGCCATATGCACACATACTTCTCAAACCTTGACCCAAGTTTGTGTGTCTATGCGCTGCTATTGCAACACACACTTGTGCACCCAGGACCAAGTTTCCAAATCACACCCTTTGGATAGAGACATTCATTGACAAGAGGTCCTAACTTCACGCATATAAATCTGAAGCAATATGCAGAAACAAAAATAGACAATGAAAACAGACATTCAAAAACACAGCCACTTTATGATAATTTAAAACCAAGAAACTTCTGGAGACTGTGTCTGGCAGTTCCAGACACACACCTTGAAACAGATTCC... | CCTTCACATATAAACTCTTAAAAAGCCATATGCACACATACTTCTCAAACCTTGACCCAAGTTTGTGTGTCTATGCGCTGCTATTGCAACACACACTTGTGCACCCAGGACCAAGTTTCCAAATCACACCCTTTGGATAGAGACATTCATTGACAAGAGGTCCTAACTTCACGCATATAAATCTGAAGCAATATGCAGAAACAAAAATAGACAATGAAAACAGACATTCAAAAACACAGCCACTTTATGATAATTTAAAACCAAGAAACTTCTGGAGACTGTGTCTGGCAGTTCCAGACACACACCTTGAAACAGATTCC... |
Task1_train_16977 | The gene KCNA5 (potassium voltage-gated channel subfamily A member 5) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Atrial fibrillation, familial, 7 | TGCTTGGTAACGGGCTGCCAGAAGAGAGAGAGGCAGAGAGCAGGGCAGCGGCTTCTTGACGTCAGGGCCAAGCGAGGGGATCGCGCCAGCAACCCCAGCTCTCCCCAGAGAGGGGCCGGCCGACCGCTGGAGCGGAGCCTGACGCCAGGCGCCCGCGGAGCGTGAGTAGGGGGCGCGGGAGCCGGTCAGCTGGGGCGCAGCATGCCCTCTGCTCCCGCGCCATGGAGATCGCCCTGGTGCCCCTGGAGAACGGCGGTGCCATGACCGTCAGAGGAGGCGATGAGGCCCGGGCAGGCTGCGGCCAGGCCACAGGGGGAGAG... | TGCTTGGTAACGGGCTGCCAGAAGAGAGAGAGGCAGAGAGCAGGGCAGCGGCTTCTTGACGTCAGGGCCAAGCGAGGGGATCGCGCCAGCAACCCCAGCTCTCCCCAGAGAGGGGCCGGCCGACCGCTGGAGCGGAGCCTGACGCCAGGCGCCCGCGGAGCGTGAGTAGGGGGCGCGGGAGCCGGTCAGCTGGGGCGCAGCATGCCCTCTGCTCCCGCGCCATGGAGATCGCCCTGGTGCCCCTGGAGAACGGCGGTGCCATGACCGTCAGAGGAGGCGATGAGGCCCGGGCAGGCTGCGGCCAGGCCACAGGGGGAGAG... |
Task1_train_16978 | This alteration occurs within gene VWF (von Willebrand factor) located on Chromosome 12. Is it associated with a disease or is it a benign variant? | Pathogenic; Von Willebrand disease type 2A | CCTAGCCTTCCTGCTGAATTTCTCCAGAGCTGATGCCTCCAATAACACCTTGTCCCCAGCTAGAGTGTTAGGCGATCAGTCAGAAGAGTGACAGTTAATTCCCTGTCCCTGGATCTGGTTTCCTACCAAGAGAGACCTTAGAGGCTACCCAAAGTTGGGAGTGGGGTGATGGATGGAGAGACAGTAACCTTTGAATTACTGAGTAGTTACATAAAACTTCTATCCATTCTTCCTTCCTTCTGCCCCACTAAACTCCCCACCAAGCCTACTCAGCATAATCTATGCCATTTTCCTGTAATGTGGCTTCTCTTAAGGTTAAG... | CCTAGCCTTCCTGCTGAATTTCTCCAGAGCTGATGCCTCCAATAACACCTTGTCCCCAGCTAGAGTGTTAGGCGATCAGTCAGAAGAGTGACAGTTAATTCCCTGTCCCTGGATCTGGTTTCCTACCAAGAGAGACCTTAGAGGCTACCCAAAGTTGGGAGTGGGGTGATGGATGGAGAGACAGTAACCTTTGAATTACTGAGTAGTTACATAAAACTTCTATCCATTCTTCCTTCCTTCTGCCCCACTAAACTCCCCACCAAGCCTACTCAGCATAATCTATGCCATTTTCCTGTAATGTGGCTTCTCTTAAGGTTAAG... |
Task1_train_16979 | This is a variant in VWF (von Willebrand factor), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Von Willebrand disease type 2B | ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTT... | ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTT... |
Task1_train_16980 | A change on Chromosome 12 affects gene VWF (von Willebrand factor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; von Willebrand disease type 1 | ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTT... | ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTT... |
Task1_train_16981 | This genomic variant is located on Chromosome 12, within the VWF (von Willebrand factor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not specified | ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTT... | ATCTCTACTTGGCCCACTGGGAATTCAAAAATTTAATCCCAGCTCACCATTCCAGTCTGAACACTGGGAGTTTTCTGTCCTTAGATGGCTCGAAATCTAAATCAACCCTAACTACATATTAGTCTGCCTCCTAATTTCTAGATAATTTCATTGTAAAGGGAAAGCCTGCCAATTACATTAAGAGGATGAATTAAAAAAAAAAAACATTTAGACCAGCATACTATACTATGTTGCTGTGGATTTAAGGCCCTGAGCCTGGCTTATTGTCCTTATTAAAGATCTCGAAGCCTCTTGAATGAGTTGACCAACAAAGACCCTTT... |
Task1_train_16982 | This sequence variant lies in VWF (von Willebrand factor) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; von Willebrand disease type 3 | CTGAGGTAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGAAGAACGAATGAAAAGAAAGAAAGAAAGAAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAGTGAGGGAGGGAGTGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGTGACGTAGGTAGGTAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGTGACGTAG... | CTGAGGTAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGACTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGAAGAACGAATGAAAAGAAAGAAAGAAAGAAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAGTGAGGGAGGGAGTGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGTGACGTAGGTAGGTAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAGGAAGTGACGTAG... |
Task1_train_16983 | An alteration has been detected in VWF (von Willebrand factor) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; von Willebrand disease type 1 | ATCTTGGAAGAGGTCCCTGAGGAGGATGGCCTCCCTCACACCAGCAGAGAGAGGCCACACCACCCCTCCTCATCCACAGAGGCCTTACCGCAGGTGAAGTTGGGTCTGCACTCGCCAGGGTTGGTCAGTGTGGGCTGGAGGCCACGTTCACAGTGAGGCACTGGGGGCAGGTCACAGCTCACTGGGTCACACACTGAGGGCCAGAAAGAGAGACGTCCATGCAGAGTTCAGAAAGGTTACTCTTTTATTACCTGTGAGTGGGATGCTACATTCCTATTCATGCAGACTTCTACTGTTTTAGGTAAGTGATGATGATGGAG... | ATCTTGGAAGAGGTCCCTGAGGAGGATGGCCTCCCTCACACCAGCAGAGAGAGGCCACACCACCCCTCCTCATCCACAGAGGCCTTACCGCAGGTGAAGTTGGGTCTGCACTCGCCAGGGTTGGTCAGTGTGGGCTGGAGGCCACGTTCACAGTGAGGCACTGGGGGCAGGTCACAGCTCACTGGGTCACACACTGAGGGCCAGAAAGAGAGACGTCCATGCAGAGTTCAGAAAGGTTACTCTTTTATTACCTGTGAGTGGGATGCTACATTCCTATTCATGCAGACTTCTACTGTTTTAGGTAAGTGATGATGATGGAG... |
Task1_train_16984 | Gene VWF (von Willebrand factor), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; von Willebrand disease type 1 | GCCAAGGAAAAGATCATTTCTGTCTCCTTCTGAGAGCAAGCATTTTGCCACTACTAGTAAAACCGGTCTGAAATTACCACAGGTTTCTAGCCCCATATGTAAATTGGTCCACATCATTCAAGCCCTGCAGGAGCTCAGGAGCTATACAAATCAAGGAGAGGAATATAAGGTTTTGTCAACTCATTTAGGGAATATCACAGAACAGGCAATTACTTAACTTGGCAAGTTGAAATATGGCAGTAGAGTAGGACTTTAGCTCATCTATTCCACGGTGAGGACAAATTGGATCCACTAGGACAAAGCCCAACAACTAAACTAGA... | GCCAAGGAAAAGATCATTTCTGTCTCCTTCTGAGAGCAAGCATTTTGCCACTACTAGTAAAACCGGTCTGAAATTACCACAGGTTTCTAGCCCCATATGTAAATTGGTCCACATCATTCAAGCCCTGCAGGAGCTCAGGAGCTATACAAATCAAGGAGAGGAATATAAGGTTTTGTCAACTCATTTAGGGAATATCACAGAACAGGCAATTACTTAACTTGGCAAGTTGAAATATGGCAGTAGAGTAGGACTTTAGCTCATCTATTCCACGGTGAGGACAAATTGGATCCACTAGGACAAAGCCCAACAACTAAACTAGA... |
Task1_train_16985 | The gene VWF (von Willebrand factor) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; von Willebrand disease type 1 | CTGCCTTCCAACATGACTTTATCTGGAGGGCAGAAACAGCCTTCGGAGGGATGGTCCCCACAGGAGCTCACGTTGCCATCACAGTGCCGGGGACAGCCATGCTCACAGTGGTTGTAGACCAGAGATGGTGGGCATGACATAGCTGTAGACAGAGAAGGAGGTCACTTGCAAAGGCCCACACCAGCCAGAGTGAAATGGGCACAGCTGATTCAACATGGTTAATCATCAGACAAACTTGCCAGGGCAGAGACGGCTATTTTCCACCAATCTTCATCCTCCCCACCTTCCATAGAAACAGAACTTTAGGCTGGGCATATGAC... | CTGCCTTCCAACATGACTTTATCTGGAGGGCAGAAACAGCCTTCGGAGGGATGGTCCCCACAGGAGCTCACGTTGCCATCACAGTGCCGGGGACAGCCATGCTCACAGTGGTTGTAGACCAGAGATGGTGGGCATGACATAGCTGTAGACAGAGAAGGAGGTCACTTGCAAAGGCCCACACCAGCCAGAGTGAAATGGGCACAGCTGATTCAACATGGTTAATCATCAGACAAACTTGCCAGGGCAGAGACGGCTATTTTCCACCAATCTTCATCCTCCCCACCTTCCATAGAAACAGAACTTTAGGCTGGGCATATGAC... |
Task1_train_16986 | A sequence alteration has been identified in VWF (von Willebrand factor) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; von Willebrand disease type 3 | CTGCCTTCCAACATGACTTTATCTGGAGGGCAGAAACAGCCTTCGGAGGGATGGTCCCCACAGGAGCTCACGTTGCCATCACAGTGCCGGGGACAGCCATGCTCACAGTGGTTGTAGACCAGAGATGGTGGGCATGACATAGCTGTAGACAGAGAAGGAGGTCACTTGCAAAGGCCCACACCAGCCAGAGTGAAATGGGCACAGCTGATTCAACATGGTTAATCATCAGACAAACTTGCCAGGGCAGAGACGGCTATTTTCCACCAATCTTCATCCTCCCCACCTTCCATAGAAACAGAACTTTAGGCTGGGCATATGAC... | CTGCCTTCCAACATGACTTTATCTGGAGGGCAGAAACAGCCTTCGGAGGGATGGTCCCCACAGGAGCTCACGTTGCCATCACAGTGCCGGGGACAGCCATGCTCACAGTGGTTGTAGACCAGAGATGGTGGGCATGACATAGCTGTAGACAGAGAAGGAGGTCACTTGCAAAGGCCCACACCAGCCAGAGTGAAATGGGCACAGCTGATTCAACATGGTTAATCATCAGACAAACTTGCCAGGGCAGAGACGGCTATTTTCCACCAATCTTCATCCTCCCCACCTTCCATAGAAACAGAACTTTAGGCTGGGCATATGAC... |
Task1_train_16987 | A genetic alteration is present in VWF (von Willebrand factor) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; von Willebrand disease type 1 | TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATA... | TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATA... |
Task1_train_16988 | A variant has been detected on Chromosome 12 in VWF (von Willebrand factor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; von Willebrand disease type 1 | TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATA... | TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATA... |
Task1_train_16989 | A change on Chromosome 12 affects gene VWF (von Willebrand factor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; von Willebrand disease type 3 | TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATA... | TTCTGGGTATTCATCCAAAAGCATTGAAATCAGGATCTCAAAAAGGTACTTATACACTTCCACATTCACTGCAACATTATTCACAATAGCCAAGAGTTAGAAATAATCCAAATGCACATCAGTGGACAAATGGATAAAGAAAATGTGGTATATACATGCAATGGAATACTATTCAGTCTTTAGAAAGAAGGAAATCCTTTCATATGCCACAACATAGATGAACTTGGAGGATGTTAAGCTAAGTGAAATGAGCCAGTCACAGAAGGATAACTACTGCATGAATCCACTTACAGGAGGTATCTAAAATCGTCAAATTCATA... |
Task1_train_16990 | A variant found in Chromosome 12 affects VWF (von Willebrand factor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; von Willebrand disease type 1 | GAGGGAGGGACATCCCAAGCAGAGAGAAGAGTGAGTGCAAAGGCCCCAGAGCAGAAATGTGACTGCATGCTCCCGGGGGCTGGGGAGAGAGGGACAAGCAAGAGAGGGAAAGGGCATGGATCAGGCAATGCTCCATTGGCCACAGTAAGGGCTCACCATGTTCTGTGAATGAAACAAAGCCAGCCAAGACTACAGAGCAGAGGGACAGGAGCTGATTTTGATATTAAAGGGCCACTGCAGCTGCTGTGCTGAGAATGATCTGCAGGGGACAAAGGTGGAAGCTGGGGTTCCAGTTAGACAGCTATTTCAATAGTCCAGGT... | GAGGGAGGGACATCCCAAGCAGAGAGAAGAGTGAGTGCAAAGGCCCCAGAGCAGAAATGTGACTGCATGCTCCCGGGGGCTGGGGAGAGAGGGACAAGCAAGAGAGGGAAAGGGCATGGATCAGGCAATGCTCCATTGGCCACAGTAAGGGCTCACCATGTTCTGTGAATGAAACAAAGCCAGCCAAGACTACAGAGCAGAGGGACAGGAGCTGATTTTGATATTAAAGGGCCACTGCAGCTGCTGTGCTGAGAATGATCTGCAGGGGACAAAGGTGGAAGCTGGGGTTCCAGTTAGACAGCTATTTCAATAGTCCAGGT... |
Task1_train_16991 | This mutation is located in gene VWF (von Willebrand factor) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; von Willebrand disease type 2M | TGGAGGTATCAGGGAAAAGGAAGAAGAATCAAGGATGCTGAGCTTTTTGAACTGAACAACTGGAAGGTTGGAATTGCCATTTTCTAAGATAAGAAAGACAGATGTGAAAATCAGGAGTTTAGTTTTGCCTATTAGAGCATGCAAACTGAGTTGAGGTGAGGCTGGAGATACGAATTTCAAAGTCAAAGATGTATAAATGTATTTAGACCCATGACACTGAACTAGACCACCAAGGGGGTATATGTAAGAAGAGAAGAGAAAATATCACAGGGCTGAGCCCAGAGAATGTGCATGCTCATTTACACATGAGAAACCGAGGC... | TGGAGGTATCAGGGAAAAGGAAGAAGAATCAAGGATGCTGAGCTTTTTGAACTGAACAACTGGAAGGTTGGAATTGCCATTTTCTAAGATAAGAAAGACAGATGTGAAAATCAGGAGTTTAGTTTTGCCTATTAGAGCATGCAAACTGAGTTGAGGTGAGGCTGGAGATACGAATTTCAAAGTCAAAGATGTATAAATGTATTTAGACCCATGACACTGAACTAGACCACCAAGGGGGTATATGTAAGAAGAGAAGAGAAAATATCACAGGGCTGAGCCCAGAGAATGTGCATGCTCATTTACACATGAGAAACCGAGGC... |
Task1_train_16992 | Assess the clinical impact of this variant on gene VWF (von Willebrand factor), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Von Willebrand disease type 2A | CTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAA... | CTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAA... |
Task1_train_16993 | Gene VWF (von Willebrand factor), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; von Willebrand disease type 2 | CTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAA... | CTGCATCCAGCCTGTGGCACCAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAA... |
Task1_train_16994 | Given a variant located on Chromosome 12 and affecting VWF (von Willebrand factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Von Willebrand disease type 2A | CCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGT... | CCCTCCCGCTGCATGACGTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGT... |
Task1_train_16995 | This sequence variant lies in VWF (von Willebrand factor) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAG... | GTCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAG... |
Task1_train_16996 | Here’s a variant in VWF (von Willebrand factor) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary von Willebrand disease | CGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACA... | CGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACA... |
Task1_train_16997 | A genetic alteration is present in VWF (von Willebrand factor) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; von Willebrand disease type 2 | CACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCT... | CACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCT... |
Task1_train_16998 | Gene VWF (von Willebrand factor) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary von Willebrand disease | TCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCC... | TCGCTCACCCACCTATATTGGCTTTTGAAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCC... |
Task1_train_16999 | Assess the clinical impact of this variant on gene VWF (von Willebrand factor), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Von Willebrand disease type 2A | AGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGC... | AGCCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCTGACCACGTGGCACCACCAAGGGGGGCGGGGGGTGCCTTCGTGAGTACAAGGGCAATGTGGGCCAGGGAGGAGGGGATGGGGAGATGGAGTTCCTGGGTCCGGACTACCTCAGATTTAGAGACACTGAGAAGACTCCAATTCTACCCAAAGGAAGTTTAAATGTCTACAAATAAAAGCAGC... |
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