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_18000 | A variant on Chromosome 12 in gene SHMT2 (serine hydroxymethyltransferase 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | GGCTCCAAACGCTGGGTAATCAGTGGAAAGGAAGCTCTTCTCCTACCTTAGTTCCTAGTCACAAACTCTGGGGTTCTCTTGGCTTTTCCATGCACGTGGATTGGGGCCTCAGGGAGCGGACGTGTAACTGGGGAATCCCCAAGACCCCTGGGCGCGCGTGGAGTTAACTGCGAGCCTGTCCTCATTCTGGCGATCAGACGCCCCAGGGCCTCGTGACCGCCCATTTCACGTGGCATTAGGGGAGAGGACAGCCCCGGATGCCCCGCGGACCCGGTGCTGGCAAATGAGCGGAGTTTTCGGCCTGGTCTCACAAGCTGAGC... | GGCTCCAAACGCTGGGTAATCAGTGGAAAGGAAGCTCTTCTCCTACCTTAGTTCCTAGTCACAAACTCTGGGGTTCTCTTGGCTTTTCCATGCACGTGGATTGGGGCCTCAGGGAGCGGACGTGTAACTGGGGAATCCCCAAGACCCCTGGGCGCGCGTGGAGTTAACTGCGAGCCTGTCCTCATTCTGGCGATCAGACGCCCCAGGGCCTCGTGACCGCCCATTTCACGTGGCATTAGGGGAGAGGACAGCCCCGGATGCCCCGCGGACCCGGTGCTGGCAAATGAGCGGAGTTTTCGGCCTGGTCTCACAAGCTGAGC... |
Task1_train_18001 | Consider this mutation in SHMT2 (serine hydroxymethyltransferase 2) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | TGGCCGTCTACACAGCCCTTCTGCAACCTCACGACCGGATCATGGGGCTGGACCTGCCCGATGGGGGCCAGTGAGTATGGATGGGCTGGCTGATGGTCTTGGCGGCAGGATTGGTGTGGGAAAGGAGTTATTTATTGAATACCTACTGTGGACCATACAGATGGAACAGGCCTTGCCCTGTCCTGCATGTCACAGTGGATGAGGAAGATAAGATCCCAGTTATAGTGCCTACCACAGAGTGGACAGAGCAGTGAGGCGGTGTGTCCTAGGACTGGTGTTCTGGGGACAGAGAACTGTGGAGTTGAAGGGAGTGGTTAAGT... | TGGCCGTCTACACAGCCCTTCTGCAACCTCACGACCGGATCATGGGGCTGGACCTGCCCGATGGGGGCCAGTGAGTATGGATGGGCTGGCTGATGGTCTTGGCGGCAGGATTGGTGTGGGAAAGGAGTTATTTATTGAATACCTACTGTGGACCATACAGATGGAACAGGCCTTGCCCTGTCCTGCATGTCACAGTGGATGAGGAAGATAAGATCCCAGTTATAGTGCCTACCACAGAGTGGACAGAGCAGTGAGGCGGTGTGTCCTAGGACTGGTGTTCTGGGGACAGAGAACTGTGGAGTTGAAGGGAGTGGTTAAGT... |
Task1_train_18002 | A genetic alteration is present in SHMT2 (serine hydroxymethyltransferase 2) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | TGAATACCTACTGTGGACCATACAGATGGAACAGGCCTTGCCCTGTCCTGCATGTCACAGTGGATGAGGAAGATAAGATCCCAGTTATAGTGCCTACCACAGAGTGGACAGAGCAGTGAGGCGGTGTGTCCTAGGACTGGTGTTCTGGGGACAGAGAACTGTGGAGTTGAAGGGAGTGGTTAAGTCCGGGGGTCCTTCCACCCAGGCCTTCTTACTTCCTCTCACTTCGCAGTCTCACCCACGGCTACATGTCTGACGTCAAGCGGATATCAGCCACGTCCATCTTCTTCGAGTCTATGCCCTATAAGCTCAACGTGAGT... | TGAATACCTACTGTGGACCATACAGATGGAACAGGCCTTGCCCTGTCCTGCATGTCACAGTGGATGAGGAAGATAAGATCCCAGTTATAGTGCCTACCACAGAGTGGACAGAGCAGTGAGGCGGTGTGTCCTAGGACTGGTGTTCTGGGGACAGAGAACTGTGGAGTTGAAGGGAGTGGTTAAGTCCGGGGGTCCTTCCACCCAGGCCTTCTTACTTCCTCTCACTTCGCAGTCTCACCCACGGCTACATGTCTGACGTCAAGCGGATATCAGCCACGTCCATCTTCTTCGAGTCTATGCCCTATAAGCTCAACGTGAGT... |
Task1_train_18003 | Consider a variant on Chromosome 12 in gene SHMT2 (serine hydroxymethyltransferase 2). Determine its clinical classification and disease relevance. | Pathogenic; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | GTGAGTGCTCTAGGGTGTGGGGAGGGGCTCTTGGCCCTGGTGGTGGTCCTCCCCTGGAGAAGCTGAGGGCCTGGAGCGCCGGGCCGTCCTTAGGGTTAAGGAGGAGAGTGAGCTGCCCTGCTTCCTTCTCAGGGCTTTAGCTGTTTGTGTGTCTGTCCAGCCCAAAACTGGCCTCATTGACTACAACCAGCTGGCACTGACTGCTCGACTTTTCCGGCCACGGCTCATCATAGCTGGCACCAGCGCCTATGCTCGCCTCATTGACTACGCCCGCATGAGAGAGGTTGGTGGGGGGGGCTGGAGACTGGGCACCTCCCCAG... | GTGAGTGCTCTAGGGTGTGGGGAGGGGCTCTTGGCCCTGGTGGTGGTCCTCCCCTGGAGAAGCTGAGGGCCTGGAGCGCCGGGCCGTCCTTAGGGTTAAGGAGGAGAGTGAGCTGCCCTGCTTCCTTCTCAGGGCTTTAGCTGTTTGTGTGTCTGTCCAGCCCAAAACTGGCCTCATTGACTACAACCAGCTGGCACTGACTGCTCGACTTTTCCGGCCACGGCTCATCATAGCTGGCACCAGCGCCTATGCTCGCCTCATTGACTACGCCCGCATGAGAGAGGTTGGTGGGGGGGGCTGGAGACTGGGCACCTCCCCAG... |
Task1_train_18004 | A genetic alteration is present in STAC3 (SH3 and cysteine rich domain 3) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Bailey-Bloch congenital myopathy | TGTTCCTATTCCAGCTCAATCGCGATTAAAGGGGGGGGTCTTCTTTAATGACTCCGCCCCCACCCCCTCAGGCATCCGGGACCGTCAAGGGCAAAGGGAACAGAAAACTGAACCCGGTTCTGCAGAGTCTTCTTGTGTGCTTCCCTACCCCCATCACACCTCAGCCTTCTGGAAGGGGGGCGCGCCCGTCCCAGGCCTCCTCTTCCCCAGCCCAGCTGAGCCTCTGCCCTCCCCCCGCCAGCAGCAGATGGTGCCCGGGCTCCCGCTGCCAACCTTGCTAGGCGGTGCCAACCTCGGTCCTGGCAGACAACGGGCAGACG... | TGTTCCTATTCCAGCTCAATCGCGATTAAAGGGGGGGGTCTTCTTTAATGACTCCGCCCCCACCCCCTCAGGCATCCGGGACCGTCAAGGGCAAAGGGAACAGAAAACTGAACCCGGTTCTGCAGAGTCTTCTTGTGTGCTTCCCTACCCCCATCACACCTCAGCCTTCTGGAAGGGGGGCGCGCCCGTCCCAGGCCTCCTCTTCCCCAGCCCAGCTGAGCCTCTGCCCTCCCCCCGCCAGCAGCAGATGGTGCCCGGGCTCCCGCTGCCAACCTTGCTAGGCGGTGCCAACCTCGGTCCTGGCAGACAACGGGCAGACG... |
Task1_train_18005 | The variant affects gene MARS1 (methionyl-tRNA synthetase 1), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2U | ATGCCTGAAATCCCAGCACTTTGGGAGGTTGAGGCGGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGTCCTGTCAACATAGACTGCATCTCTACAAAAAAAATTTAAAAATTATCCAGGCACGGTGATGCCTGCCTGAAGTTCCAGCTACCTGGGAGGCTGAGATGGAAGGATCATTTTGAGCCCAGGAGTTCAAGATTACAGTGTGCTGTGTTGTGCCACTGCCCTCCTGCCTAGGTGACAGAGGGAGACCCTGTCTCCAAAAAAAAAAAAAAAGGGAGATAACCTTTCTCAGGCATGTATACAGGCAAATACATT... | ATGCCTGAAATCCCAGCACTTTGGGAGGTTGAGGCGGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGTCCTGTCAACATAGACTGCATCTCTACAAAAAAAATTTAAAAATTATCCAGGCACGGTGATGCCTGCCTGAAGTTCCAGCTACCTGGGAGGCTGAGATGGAAGGATCATTTTGAGCCCAGGAGTTCAAGATTACAGTGTGCTGTGTTGTGCCACTGCCCTCCTGCCTAGGTGACAGAGGGAGACCCTGTCTCCAAAAAAAAAAAAAAAGGGAGATAACCTTTCTCAGGCATGTATACAGGCAAATACATT... |
Task1_train_18006 | An alteration has been detected in MARS1 (methionyl-tRNA synthetase 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | ATGCCTGAAATCCCAGCACTTTGGGAGGTTGAGGCGGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGTCCTGTCAACATAGACTGCATCTCTACAAAAAAAATTTAAAAATTATCCAGGCACGGTGATGCCTGCCTGAAGTTCCAGCTACCTGGGAGGCTGAGATGGAAGGATCATTTTGAGCCCAGGAGTTCAAGATTACAGTGTGCTGTGTTGTGCCACTGCCCTCCTGCCTAGGTGACAGAGGGAGACCCTGTCTCCAAAAAAAAAAAAAAAGGGAGATAACCTTTCTCAGGCATGTATACAGGCAAATACATT... | ATGCCTGAAATCCCAGCACTTTGGGAGGTTGAGGCGGGAGGATCACTTGAGCCCAGGAGTTCGAGACCAGTCCTGTCAACATAGACTGCATCTCTACAAAAAAAATTTAAAAATTATCCAGGCACGGTGATGCCTGCCTGAAGTTCCAGCTACCTGGGAGGCTGAGATGGAAGGATCATTTTGAGCCCAGGAGTTCAAGATTACAGTGTGCTGTGTTGTGCCACTGCCCTCCTGCCTAGGTGACAGAGGGAGACCCTGTCTCCAAAAAAAAAAAAAAAGGGAGATAACCTTTCTCAGGCATGTATACAGGCAAATACATT... |
Task1_train_18007 | The variant affects gene MARS1 (methionyl-tRNA synthetase 1), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Spastic paraplegia 70, autosomal recessive | GGGGCTGGGGAGATCCCAAGGACAAGGAAGCGCTGAAGCGGGGCCCCCTAGCGATCACCATATTCCCTTGCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAGTAAGTTTCCTCTAATGAGGCAGAAATGGGGCTTGAAGGCTGA... | GGGGCTGGGGAGATCCCAAGGACAAGGAAGCGCTGAAGCGGGGCCCCCTAGCGATCACCATATTCCCTTGCAGGTACTCTCGCCTCCGCCAGTGGAACACCCTCTATCTGTGTGGGACAGATGAGTATGGTACAGCAACAGAGACCAAGGCTCTGGAGGAGGGACTAACCCCCCAGGAGATCTGCGACAAGTACCACATCATCCATGCTGACATCTACCGCTGGTTTAACATTTCGTTTGATATTTTTGGTCGCACCACCACTCCACAGCAGACCAAGTAAGTTTCCTCTAATGAGGCAGAAATGGGGCTTGAAGGCTGA... |
Task1_train_18008 | The gene MARS1 (methionyl-tRNA synthetase 1), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2U | AAGGGTATATAGCCAAGTGTGTTCAAACAAAATTTTTTTCTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACCGCACTCTCAAACTCTCGGGCTCAAGTTATCCTTTTGCTTCAGCCTTCTGCGTAGTTGGGACTACAGGCGTGTACTATCATGCCTGGCTGATTAAAAAAAAATTGACTAGGCATGGTGACTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAATAGACCGAGACCATCCTGGCCAACGTGGTGAAACCCCATCTCTA... | AAGGGTATATAGCCAAGTGTGTTCAAACAAAATTTTTTTCTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACCGCACTCTCAAACTCTCGGGCTCAAGTTATCCTTTTGCTTCAGCCTTCTGCGTAGTTGGGACTACAGGCGTGTACTATCATGCCTGGCTGATTAAAAAAAAATTGACTAGGCATGGTGACTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAATAGACCGAGACCATCCTGGCCAACGTGGTGAAACCCCATCTCTA... |
Task1_train_18009 | Given a variant located on Chromosome 12 and affecting MARS1 (methionyl-tRNA synthetase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | AAGGGTATATAGCCAAGTGTGTTCAAACAAAATTTTTTTCTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACCGCACTCTCAAACTCTCGGGCTCAAGTTATCCTTTTGCTTCAGCCTTCTGCGTAGTTGGGACTACAGGCGTGTACTATCATGCCTGGCTGATTAAAAAAAAATTGACTAGGCATGGTGACTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAATAGACCGAGACCATCCTGGCCAACGTGGTGAAACCCCATCTCTA... | AAGGGTATATAGCCAAGTGTGTTCAAACAAAATTTTTTTCTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCACCGCACTCTCAAACTCTCGGGCTCAAGTTATCCTTTTGCTTCAGCCTTCTGCGTAGTTGGGACTACAGGCGTGTACTATCATGCCTGGCTGATTAAAAAAAAATTGACTAGGCATGGTGACTCACGCCTGTAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAATAGACCGAGACCATCCTGGCCAACGTGGTGAAACCCCATCTCTA... |
Task1_train_18010 | Given a variant located on Chromosome 12 and affecting MARS1 (methionyl-tRNA synthetase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pulmonary alveolar proteinosis | TGTATTTAAAAAAAGAAAAAATTGGTTGGGCACGGTGGCTTATGCCTGTAATTCCAACTTCCAACACTTTGGGAGGCTGAGGCGGGAGAATTGCTTGACCCCAGGAGTTTGAGACCAGGGTGGGCAACTTGGTGAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGTGTGGTGGCACGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGAAGGATCACTTAAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATGTGCCACTGTACTCCAGCCTGGGTGACAGTGAGACCCTGATATGGACAAGATTAG... | TGTATTTAAAAAAAGAAAAAATTGGTTGGGCACGGTGGCTTATGCCTGTAATTCCAACTTCCAACACTTTGGGAGGCTGAGGCGGGAGAATTGCTTGACCCCAGGAGTTTGAGACCAGGGTGGGCAACTTGGTGAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGTGTGGTGGCACGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGAAGGATCACTTAAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATGTGCCACTGTACTCCAGCCTGGGTGACAGTGAGACCCTGATATGGACAAGATTAG... |
Task1_train_18011 | The gene MARS1 (methionyl-tRNA synthetase 1) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | TGTATTTAAAAAAAGAAAAAATTGGTTGGGCACGGTGGCTTATGCCTGTAATTCCAACTTCCAACACTTTGGGAGGCTGAGGCGGGAGAATTGCTTGACCCCAGGAGTTTGAGACCAGGGTGGGCAACTTGGTGAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGTGTGGTGGCACGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGAAGGATCACTTAAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATGTGCCACTGTACTCCAGCCTGGGTGACAGTGAGACCCTGATATGGACAAGATTAG... | TGTATTTAAAAAAAGAAAAAATTGGTTGGGCACGGTGGCTTATGCCTGTAATTCCAACTTCCAACACTTTGGGAGGCTGAGGCGGGAGAATTGCTTGACCCCAGGAGTTTGAGACCAGGGTGGGCAACTTGGTGAAACCCATCTCTACTAAAAATACAAAAATTAACCAGGTGTGGTGGCACGTGCCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTGGAAGGATCACTTAAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATGTGCCACTGTACTCCAGCCTGGGTGACAGTGAGACCCTGATATGGACAAGATTAG... |
Task1_train_18012 | This variant affects the gene MARS1 (methionyl-tRNA synthetase 1) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not specified | CCTGGTGAAACCCCGTCTCCACTAAAAATACAAAAAGTAGCCGGGCGTGGTGGCGCACATCTGTAATCCCAGCTACTCAAGAGGTTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCAAGATCATGCCACTGTGCTCCAGCCTGGGCAACAGAGTGAGAATCCTCAAAAAAAAAAAAAATTAAAAAAAAAAAAAAGTACTTGCCTAGAGTGTTTGTTTGATAGCAGTTAACACATACTCAGCTTGGTCATTTTGAGTAATGACTTTTTTTTTTTTTTTTTGAGATGGAGTTTCTCTCTTGTTG... | CCTGGTGAAACCCCGTCTCCACTAAAAATACAAAAAGTAGCCGGGCGTGGTGGCGCACATCTGTAATCCCAGCTACTCAAGAGGTTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCAAGATCATGCCACTGTGCTCCAGCCTGGGCAACAGAGTGAGAATCCTCAAAAAAAAAAAAAATTAAAAAAAAAAAAAAGTACTTGCCTAGAGTGTTTGTTTGATAGCAGTTAACACATACTCAGCTTGGTCATTTTGAGTAATGACTTTTTTTTTTTTTTTTTGAGATGGAGTTTCTCTCTTGTTG... |
Task1_train_18013 | This genomic variant is located on Chromosome 12, within the KIF5A (kinesin family member 5A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary spastic paraplegia 10 | TTACAACATATTCCTGAATTAAACAAGGATTTGTAAGTCTGAATGATTTGCTTCACAGTTCTTTTTTTTTGAGACGAAGTCTTGCTCTTGTCCCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGCGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGC... | TTACAACATATTCCTGAATTAAACAAGGATTTGTAAGTCTGAATGATTTGCTTCACAGTTCTTTTTTTTTGAGACGAAGTCTTGCTCTTGTCCCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGCGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCAGCATGTTGGCCAGGCTGGTCTCGAACTCCTCACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGC... |
Task1_train_18014 | An alteration has been detected in KIF5A (kinesin family member 5A) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; KIF5A-related disorder | CTAACACAATCTCACTGTGCGACACTCCTCTACCCCACAGACACAACTCCTGGCATCAGTACCTTTAGTTTCTCTTATTCTCCCACATTTCTTTTCTTTTCTTCTTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTATCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGTCTCTGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTG... | CTAACACAATCTCACTGTGCGACACTCCTCTACCCCACAGACACAACTCCTGGCATCAGTACCTTTAGTTTCTCTTATTCTCCCACATTTCTTTTCTTTTCTTCTTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTATCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGTCTCTGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTG... |
Task1_train_18015 | Gene KIF5A (kinesin family member 5A) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary spastic paraplegia 10 | CTAACACAATCTCACTGTGCGACACTCCTCTACCCCACAGACACAACTCCTGGCATCAGTACCTTTAGTTTCTCTTATTCTCCCACATTTCTTTTCTTTTCTTCTTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTATCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGTCTCTGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTG... | CTAACACAATCTCACTGTGCGACACTCCTCTACCCCACAGACACAACTCCTGGCATCAGTACCTTTAGTTTCTCTTATTCTCCCACATTTCTTTTCTTTTCTTCTTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTATCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGTCTCTGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTG... |
Task1_train_18016 | Chromosome 12 houses a mutation in gene KIF5A (kinesin family member 5A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Spastic paraplegia | CTAACACAATCTCACTGTGCGACACTCCTCTACCCCACAGACACAACTCCTGGCATCAGTACCTTTAGTTTCTCTTATTCTCCCACATTTCTTTTCTTTTCTTCTTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTATCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGTCTCTGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTG... | CTAACACAATCTCACTGTGCGACACTCCTCTACCCCACAGACACAACTCCTGGCATCAGTACCTTTAGTTTCTCTTATTCTCCCACATTTCTTTTCTTTTCTTCTTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTATCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCTCGGGTTCAAGCGATTCTCCTGTCTCTGCCTCCCGAGTAGCTGGGACTACAGGCACGTGCCACCACACCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCAGGCTGGTCTTG... |
Task1_train_18017 | Mutation context: Chromosome 12, Gene KIF5A (kinesin family member 5A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 10 | GTCATTGGTCAGTGTGCATGCAATTTAATTTGCAAATCAAAGTTTACTGGAAGAAATGCCTGTAATCCCAACACTTTAGAAGGCTGAGGTGGGAGGATCACTTGAGGAGTTCAAGATCAGCCTGGCCAACATAGCAAGACCCGTCTCTCTTATTTAATCTAATTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCGACCTAGGGTCACTGCAACCTCCCTGTCCTGGGTTCAAACGATTCTCCTGCGTCAGGCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACC... | GTCATTGGTCAGTGTGCATGCAATTTAATTTGCAAATCAAAGTTTACTGGAAGAAATGCCTGTAATCCCAACACTTTAGAAGGCTGAGGTGGGAGGATCACTTGAGGAGTTCAAGATCAGCCTGGCCAACATAGCAAGACCCGTCTCTCTTATTTAATCTAATTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCGACCTAGGGTCACTGCAACCTCCCTGTCCTGGGTTCAAACGATTCTCCTGCGTCAGGCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACC... |
Task1_train_18018 | This sequence variant lies in KIF5A (kinesin family member 5A) on Chromosome 12. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary spastic paraplegia 10 | TCATTGGTCAGTGTGCATGCAATTTAATTTGCAAATCAAAGTTTACTGGAAGAAATGCCTGTAATCCCAACACTTTAGAAGGCTGAGGTGGGAGGATCACTTGAGGAGTTCAAGATCAGCCTGGCCAACATAGCAAGACCCGTCTCTCTTATTTAATCTAATTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCGACCTAGGGTCACTGCAACCTCCCTGTCCTGGGTTCAAACGATTCTCCTGCGTCAGGCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCA... | TCATTGGTCAGTGTGCATGCAATTTAATTTGCAAATCAAAGTTTACTGGAAGAAATGCCTGTAATCCCAACACTTTAGAAGGCTGAGGTGGGAGGATCACTTGAGGAGTTCAAGATCAGCCTGGCCAACATAGCAAGACCCGTCTCTCTTATTTAATCTAATTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCGACCTAGGGTCACTGCAACCTCCCTGTCCTGGGTTCAAACGATTCTCCTGCGTCAGGCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCA... |
Task1_train_18019 | This gene mutation involves KIF5A (kinesin family member 5A) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary spastic paraplegia 10 | GGGAGGATCACTTGAGGAGTTCAAGATCAGCCTGGCCAACATAGCAAGACCCGTCTCTCTTATTTAATCTAATTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCGACCTAGGGTCACTGCAACCTCCCTGTCCTGGGTTCAAACGATTCTCCTGCGTCAGGCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTAGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAATTCCTGACCTCAGGTGATCCAC... | GGGAGGATCACTTGAGGAGTTCAAGATCAGCCTGGCCAACATAGCAAGACCCGTCTCTCTTATTTAATCTAATTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCGACCTAGGGTCACTGCAACCTCCCTGTCCTGGGTTCAAACGATTCTCCTGCGTCAGGCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTAGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAATTCCTGACCTCAGGTGATCCAC... |
Task1_train_18020 | Given a variant located on Chromosome 12 and affecting KIF5A (kinesin family member 5A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CTTGAGGAGTTCAAGATCAGCCTGGCCAACATAGCAAGACCCGTCTCTCTTATTTAATCTAATTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCGACCTAGGGTCACTGCAACCTCCCTGTCCTGGGTTCAAACGATTCTCCTGCGTCAGGCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTAGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAATTCCTGACCTCAGGTGATCCACCTGCCTCAGC... | CTTGAGGAGTTCAAGATCAGCCTGGCCAACATAGCAAGACCCGTCTCTCTTATTTAATCTAATTTTTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCTCGACCTAGGGTCACTGCAACCTCCCTGTCCTGGGTTCAAACGATTCTCCTGCGTCAGGCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCTGGCTGATTTTAGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCTAATTCCTGACCTCAGGTGATCCACCTGCCTCAGC... |
Task1_train_18021 | Assess the clinical impact of this variant on gene KIF5A (kinesin family member 5A), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 10 | TACTCTGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTCTTGACACTGCACTCCAGCCTGGGCAGAGCGAGACTCCATCTCAAAAGAAAATAATAATAATAAAAATAAATAAATAAATACAAACTTAAAAAACAAAGCTTATGGGTCACTGTCCATTTGTCCCCCACAGGGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATTCTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAGTGAGTGAGGATACAAGGGGATCTCTCGAGTCTG... | TACTCTGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTCTTGACACTGCACTCCAGCCTGGGCAGAGCGAGACTCCATCTCAAAAGAAAATAATAATAATAAAAATAAATAAATAAATACAAACTTAAAAAACAAAGCTTATGGGTCACTGTCCATTTGTCCCCCACAGGGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATTCTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAGTGAGTGAGGATACAAGGGGATCTCTCGAGTCTG... |
Task1_train_18022 | The gene KIF5A (kinesin family member 5A), on Chromosome 12, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary spastic paraplegia 10 | AATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTCTTGACACTGCACTCCAGCCTGGGCAGAGCGAGACTCCATCTCAAAAGAAAATAATAATAATAAAAATAAATAAATAAATACAAACTTAAAAAACAAAGCTTATGGGTCACTGTCCATTTGTCCCCCACAGGGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATTCTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAGTGAGTGAGGATACAAGGGGATCTCTCGAGTCTGAGGATCCACTTGTGTTCTGTGTC... | AATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTCTTGACACTGCACTCCAGCCTGGGCAGAGCGAGACTCCATCTCAAAAGAAAATAATAATAATAAAAATAAATAAATAAATACAAACTTAAAAAACAAAGCTTATGGGTCACTGTCCATTTGTCCCCCACAGGGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATTCTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAGTGAGTGAGGATACAAGGGGATCTCTCGAGTCTGAGGATCCACTTGTGTTCTGTGTC... |
Task1_train_18023 | This is a variant in KIF5A (kinesin family member 5A), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Spastic paraplegia | AATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTCTTGACACTGCACTCCAGCCTGGGCAGAGCGAGACTCCATCTCAAAAGAAAATAATAATAATAAAAATAAATAAATAAATACAAACTTAAAAAACAAAGCTTATGGGTCACTGTCCATTTGTCCCCCACAGGGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATTCTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAGTGAGTGAGGATACAAGGGGATCTCTCGAGTCTGAGGATCCACTTGTGTTCTGTGTC... | AATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTCTTGACACTGCACTCCAGCCTGGGCAGAGCGAGACTCCATCTCAAAAGAAAATAATAATAATAAAAATAAATAAATAAATACAAACTTAAAAAACAAAGCTTATGGGTCACTGTCCATTTGTCCCCCACAGGGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATTCTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAGTGAGTGAGGATACAAGGGGATCTCTCGAGTCTGAGGATCCACTTGTGTTCTGTGTC... |
Task1_train_18024 | Here is a genetic alteration in KIF5A (kinesin family member 5A) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hereditary spastic paraplegia 10 | GGGAGGTGGAGGTTGCAGTGAGCTGAGATTCTTGACACTGCACTCCAGCCTGGGCAGAGCGAGACTCCATCTCAAAAGAAAATAATAATAATAAAAATAAATAAATAAATACAAACTTAAAAAACAAAGCTTATGGGTCACTGTCCATTTGTCCCCCACAGGGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATTCTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAGTGAGTGAGGATACAAGGGGATCTCTCGAGTCTGAGGATCCACTTGTGTTCTGTGTCCTCTGGGGTGGAGG... | GGGAGGTGGAGGTTGCAGTGAGCTGAGATTCTTGACACTGCACTCCAGCCTGGGCAGAGCGAGACTCCATCTCAAAAGAAAATAATAATAATAAAAATAAATAAATAAATACAAACTTAAAAAACAAAGCTTATGGGTCACTGTCCATTTGTCCCCCACAGGGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATTCTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAGTGAGTGAGGATACAAGGGGATCTCTCGAGTCTGAGGATCCACTTGTGTTCTGTGTCCTCTGGGGTGGAGG... |
Task1_train_18025 | Here’s a variant in KIF5A (kinesin family member 5A) located on Chromosome 12. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary spastic paraplegia 10 | GAGGTGGAGGTTGCAGTGAGCTGAGATTCTTGACACTGCACTCCAGCCTGGGCAGAGCGAGACTCCATCTCAAAAGAAAATAATAATAATAAAAATAAATAAATAAATACAAACTTAAAAAACAAAGCTTATGGGTCACTGTCCATTTGTCCCCCACAGGGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATTCTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAGTGAGTGAGGATACAAGGGGATCTCTCGAGTCTGAGGATCCACTTGTGTTCTGTGTCCTCTGGGGTGGAGGGA... | GAGGTGGAGGTTGCAGTGAGCTGAGATTCTTGACACTGCACTCCAGCCTGGGCAGAGCGAGACTCCATCTCAAAAGAAAATAATAATAATAAAAATAAATAAATAAATACAAACTTAAAAAACAAAGCTTATGGGTCACTGTCCATTTGTCCCCCACAGGGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATTCTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAGTGAGTGAGGATACAAGGGGATCTCTCGAGTCTGAGGATCCACTTGTGTTCTGTGTCCTCTGGGGTGGAGGGA... |
Task1_train_18026 | A mutation found in KIF5A (kinesin family member 5A) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary spastic paraplegia 10 | AGTCTGAGGATCCACTTGTGTTCTGTGTCCTCTGGGGTGGAGGGACTCAAAAGTGAGCAAGGAAACTGTACCCCCCAGAGGAGGAGGACCCCTTGTCTGTGGGACCCTGCTGCCTGGGAGATGTGGCAGCAGGGCTAGTCCTGGTGGGCACCTTCTCTCTGGGTGGGCGGGGCTGGGGTCAGTGGAAGCCGGGGGCTGAGGACCTCAGTTCTGCAGGGTGGTGCAGGTCCTGTTTCTCCCTTGCTCCTGCAGACATGAATGAACACAGCTCTCGGAGCCACAGCATCTTCCTCATCAACATCAAGCAGGAGAACATGGAA... | AGTCTGAGGATCCACTTGTGTTCTGTGTCCTCTGGGGTGGAGGGACTCAAAAGTGAGCAAGGAAACTGTACCCCCCAGAGGAGGAGGACCCCTTGTCTGTGGGACCCTGCTGCCTGGGAGATGTGGCAGCAGGGCTAGTCCTGGTGGGCACCTTCTCTCTGGGTGGGCGGGGCTGGGGTCAGTGGAAGCCGGGGGCTGAGGACCTCAGTTCTGCAGGGTGGTGCAGGTCCTGTTTCTCCCTTGCTCCTGCAGACATGAATGAACACAGCTCTCGGAGCCACAGCATCTTCCTCATCAACATCAAGCAGGAGAACATGGAA... |
Task1_train_18027 | The variant affects gene B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Spastic paraplegia | AAGCCCCAGGGTGGGTGGGCTGCAGCCAAAGAAGGAAGGGAAGATTAGCCCCAGACATTTCTCTGATCCTTTGACCTCTTAGCTCCTCCAGGTCCCGGGGCTCTGCATCCTGAGCTATCCAACACCACTGTACTTTGGGACCCGTGGGCAGTTTCGCTGCAACCTGGAGTGGCACCTGGGGCTCGGAGAAGGAGAAAAGGTGAAGGAGCTTGGTTTAGGAGGGATGTGGATCCTCAGGGAGTGGGAGGCAGGTGGGTGTTCTGAGGGGGATCCTTGTGCTCAAGGGGTGCATGTTCATGCTGTGTTTCGGGAGTGGTGAC... | AAGCCCCAGGGTGGGTGGGCTGCAGCCAAAGAAGGAAGGGAAGATTAGCCCCAGACATTTCTCTGATCCTTTGACCTCTTAGCTCCTCCAGGTCCCGGGGCTCTGCATCCTGAGCTATCCAACACCACTGTACTTTGGGACCCGTGGGCAGTTTCGCTGCAACCTGGAGTGGCACCTGGGGCTCGGAGAAGGAGAAAAGGTGAAGGAGCTTGGTTTAGGAGGGATGTGGATCCTCAGGGAGTGGGAGGCAGGTGGGTGTTCTGAGGGGGATCCTTGTGCTCAAGGGGTGCATGTTCATGCTGTGTTTCGGGAGTGGTGAC... |
Task1_train_18028 | Here is a genetic alteration in B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Spastic paraparesis | AGCCCCAGGGTGGGTGGGCTGCAGCCAAAGAAGGAAGGGAAGATTAGCCCCAGACATTTCTCTGATCCTTTGACCTCTTAGCTCCTCCAGGTCCCGGGGCTCTGCATCCTGAGCTATCCAACACCACTGTACTTTGGGACCCGTGGGCAGTTTCGCTGCAACCTGGAGTGGCACCTGGGGCTCGGAGAAGGAGAAAAGGTGAAGGAGCTTGGTTTAGGAGGGATGTGGATCCTCAGGGAGTGGGAGGCAGGTGGGTGTTCTGAGGGGGATCCTTGTGCTCAAGGGGTGCATGTTCATGCTGTGTTTCGGGAGTGGTGACT... | AGCCCCAGGGTGGGTGGGCTGCAGCCAAAGAAGGAAGGGAAGATTAGCCCCAGACATTTCTCTGATCCTTTGACCTCTTAGCTCCTCCAGGTCCCGGGGCTCTGCATCCTGAGCTATCCAACACCACTGTACTTTGGGACCCGTGGGCAGTTTCGCTGCAACCTGGAGTGGCACCTGGGGCTCGGAGAAGGAGAAAAGGTGAAGGAGCTTGGTTTAGGAGGGATGTGGATCCTCAGGGAGTGGGAGGCAGGTGGGTGTTCTGAGGGGGATCCTTGTGCTCAAGGGGTGCATGTTCATGCTGTGTTTCGGGAGTGGTGACT... |
Task1_train_18029 | This variant affects the gene B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 26 | AGCCCCAGGGTGGGTGGGCTGCAGCCAAAGAAGGAAGGGAAGATTAGCCCCAGACATTTCTCTGATCCTTTGACCTCTTAGCTCCTCCAGGTCCCGGGGCTCTGCATCCTGAGCTATCCAACACCACTGTACTTTGGGACCCGTGGGCAGTTTCGCTGCAACCTGGAGTGGCACCTGGGGCTCGGAGAAGGAGAAAAGGTGAAGGAGCTTGGTTTAGGAGGGATGTGGATCCTCAGGGAGTGGGAGGCAGGTGGGTGTTCTGAGGGGGATCCTTGTGCTCAAGGGGTGCATGTTCATGCTGTGTTTCGGGAGTGGTGACT... | AGCCCCAGGGTGGGTGGGCTGCAGCCAAAGAAGGAAGGGAAGATTAGCCCCAGACATTTCTCTGATCCTTTGACCTCTTAGCTCCTCCAGGTCCCGGGGCTCTGCATCCTGAGCTATCCAACACCACTGTACTTTGGGACCCGTGGGCAGTTTCGCTGCAACCTGGAGTGGCACCTGGGGCTCGGAGAAGGAGAAAAGGTGAAGGAGCTTGGTTTAGGAGGGATGTGGATCCTCAGGGAGTGGGAGGCAGGTGGGTGTTCTGAGGGGGATCCTTGTGCTCAAGGGGTGCATGTTCATGCTGTGTTTCGGGAGTGGTGACT... |
Task1_train_18030 | This genomic variant is located on Chromosome 12, within the B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary spastic paraplegia 26 | GCTCTGCATCCTGAGCTATCCAACACCACTGTACTTTGGGACCCGTGGGCAGTTTCGCTGCAACCTGGAGTGGCACCTGGGGCTCGGAGAAGGAGAAAAGGTGAAGGAGCTTGGTTTAGGAGGGATGTGGATCCTCAGGGAGTGGGAGGCAGGTGGGTGTTCTGAGGGGGATCCTTGTGCTCAAGGGGTGCATGTTCATGCTGTGTTTCGGGAGTGGTGACTGCCCTTCTTTACTTATAGGAGACTTCAAAGCCAGATGGCCCAATGGTTGCAGGTGAGATGGGGTGACAAGAAGGAAGATTTGGGCATGTTGCATGGTG... | GCTCTGCATCCTGAGCTATCCAACACCACTGTACTTTGGGACCCGTGGGCAGTTTCGCTGCAACCTGGAGTGGCACCTGGGGCTCGGAGAAGGAGAAAAGGTGAAGGAGCTTGGTTTAGGAGGGATGTGGATCCTCAGGGAGTGGGAGGCAGGTGGGTGTTCTGAGGGGGATCCTTGTGCTCAAGGGGTGCATGTTCATGCTGTGTTTCGGGAGTGGTGACTGCCCTTCTTTACTTATAGGAGACTTCAAAGCCAGATGGCCCAATGGTTGCAGGTGAGATGGGGTGACAAGAAGGAAGATTTGGGCATGTTGCATGGTG... |
Task1_train_18031 | A mutation on Chromosome 12 affecting B4GALNT1 (beta-1,4-N-acetyl-galactosaminyltransferase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary spastic paraplegia 26 | CAGGATGCAGCTGCTTATGCCCTGGGGAGCCTGTTAAGGGGCAGTAGCACCAGGAGCGGGAGCCAGGAGGCACTGGGCTGCGGCAAGTGAGGCAGGGGTAAGTGGCTGGAGACCCAGGGAGAGGGGTTTGGGAAAGGGTCTGAGGAAGATCAAGAAGAAAAGGGTGGGGACGGAATGAATAGTAGATTGAAGACCAAATCAGGGAGCCCGGGCTGAGCTATGGGTGAGGAACTGAAGAACTCAGATCCCTAAGTAGGTGGGGTACCCCTGAGAGGACTGCCACATTTCATTAAGGAAGAGGGGTGCCTAATCTATTCCTG... | CAGGATGCAGCTGCTTATGCCCTGGGGAGCCTGTTAAGGGGCAGTAGCACCAGGAGCGGGAGCCAGGAGGCACTGGGCTGCGGCAAGTGAGGCAGGGGTAAGTGGCTGGAGACCCAGGGAGAGGGGTTTGGGAAAGGGTCTGAGGAAGATCAAGAAGAAAAGGGTGGGGACGGAATGAATAGTAGATTGAAGACCAAATCAGGGAGCCCGGGCTGAGCTATGGGTGAGGAACTGAAGAACTCAGATCCCTAAGTAGGTGGGGTACCCCTGAGAGGACTGCCACATTTCATTAAGGAAGAGGGGTGCCTAATCTATTCCTG... |
Task1_train_18032 | The following genetic variant occurs in CDK4 (cyclin dependent kinase 4) on Chromosome 12. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial melanoma | ATAAAGGCCAACAATTCCAGCACTTTGGGATGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCTAGATCAGCCTGGGCAAGCAAGACCTTGTCTCTTTTTTTAAAAAAAAAGAAATGCCAGGTGCAGCGGCTCACGCCTGTAATCCTAGCACTTTGGGAGTCTGATGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCATTACTAAAAGTACAAAAATTAGCTGAGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGTCAAGAGAATTGCTTGAA... | ATAAAGGCCAACAATTCCAGCACTTTGGGATGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCTAGATCAGCCTGGGCAAGCAAGACCTTGTCTCTTTTTTTAAAAAAAAAGAAATGCCAGGTGCAGCGGCTCACGCCTGTAATCCTAGCACTTTGGGAGTCTGATGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCATTACTAAAAGTACAAAAATTAGCTGAGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGTCAAGAGAATTGCTTGAA... |
Task1_train_18033 | This genomic variant is located on Chromosome 12, within the CDK4 (cyclin dependent kinase 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | ATAAAGGCCAACAATTCCAGCACTTTGGGATGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCTAGATCAGCCTGGGCAAGCAAGACCTTGTCTCTTTTTTTAAAAAAAAAGAAATGCCAGGTGCAGCGGCTCACGCCTGTAATCCTAGCACTTTGGGAGTCTGATGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCATTACTAAAAGTACAAAAATTAGCTGAGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGTCAAGAGAATTGCTTGAA... | ATAAAGGCCAACAATTCCAGCACTTTGGGATGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCTAGATCAGCCTGGGCAAGCAAGACCTTGTCTCTTTTTTTAAAAAAAAAGAAATGCCAGGTGCAGCGGCTCACGCCTGTAATCCTAGCACTTTGGGAGTCTGATGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCATTACTAAAAGTACAAAAATTAGCTGAGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGTCAAGAGAATTGCTTGAA... |
Task1_train_18034 | This variant impacts the gene CDK4 (cyclin dependent kinase 4) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial melanoma | TAAAGGCCAACAATTCCAGCACTTTGGGATGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCTAGATCAGCCTGGGCAAGCAAGACCTTGTCTCTTTTTTTAAAAAAAAAGAAATGCCAGGTGCAGCGGCTCACGCCTGTAATCCTAGCACTTTGGGAGTCTGATGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCATTACTAAAAGTACAAAAATTAGCTGAGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGTCAAGAGAATTGCTTGAAT... | TAAAGGCCAACAATTCCAGCACTTTGGGATGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCTAGATCAGCCTGGGCAAGCAAGACCTTGTCTCTTTTTTTAAAAAAAAAGAAATGCCAGGTGCAGCGGCTCACGCCTGTAATCCTAGCACTTTGGGAGTCTGATGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCATTACTAAAAGTACAAAAATTAGCTGAGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGTCAAGAGAATTGCTTGAAT... |
Task1_train_18035 | This sequence change occurs on Chromosome 12, altering CDK4 (cyclin dependent kinase 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary cancer-predisposing syndrome | TAAAGGCCAACAATTCCAGCACTTTGGGATGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCTAGATCAGCCTGGGCAAGCAAGACCTTGTCTCTTTTTTTAAAAAAAAAGAAATGCCAGGTGCAGCGGCTCACGCCTGTAATCCTAGCACTTTGGGAGTCTGATGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCATTACTAAAAGTACAAAAATTAGCTGAGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGTCAAGAGAATTGCTTGAAT... | TAAAGGCCAACAATTCCAGCACTTTGGGATGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCTAGATCAGCCTGGGCAAGCAAGACCTTGTCTCTTTTTTTAAAAAAAAAGAAATGCCAGGTGCAGCGGCTCACGCCTGTAATCCTAGCACTTTGGGAGTCTGATGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCATTACTAAAAGTACAAAAATTAGCTGAGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGTCAAGAGAATTGCTTGAAT... |
Task1_train_18036 | Given a variant located on Chromosome 12 and affecting CDK4 (cyclin dependent kinase 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Melanoma, cutaneous malignant, susceptibility to, 3 | TAAAGGCCAACAATTCCAGCACTTTGGGATGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCTAGATCAGCCTGGGCAAGCAAGACCTTGTCTCTTTTTTTAAAAAAAAAGAAATGCCAGGTGCAGCGGCTCACGCCTGTAATCCTAGCACTTTGGGAGTCTGATGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCATTACTAAAAGTACAAAAATTAGCTGAGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGTCAAGAGAATTGCTTGAAT... | TAAAGGCCAACAATTCCAGCACTTTGGGATGCTGAGGTGAGAGGACTGCTTGAGCCCAGGAGTTCTAGATCAGCCTGGGCAAGCAAGACCTTGTCTCTTTTTTTAAAAAAAAAGAAATGCCAGGTGCAGCGGCTCACGCCTGTAATCCTAGCACTTTGGGAGTCTGATGTGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCATTACTAAAAGTACAAAAATTAGCTGAGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGTCAAGAGAATTGCTTGAAT... |
Task1_train_18037 | Gene CYP27B1 (cytochrome P450 family 27 subfamily B member 1) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Vitamin D-dependent rickets, type 1A | GAACTGTGCAGTGTGCTGAGAGATTTATTTGGATGGAAGATGAGTTAATCTGTATACATCACAAGAGGAGAGCTGTGCCCAGCCTCTGGGGGGCCAGAGAATGCTGACTTAGGGAAACAGTCTCCCTCTGCCCACCGCCCTTATCCTGCCTCAGTGCCCCAGGGCTTCTGGCCACCCCCACACTCAGCTTTCATTCTGTCTGTCTGATTCCACTTCTCTGCTTGTATCCCTTCCTCTGAAGGAAATTATCTTGGAACAACTTTTCCAGAGAGGGCAAAGTGACCAATCTAGGACTTCCTTCAATCCTGGCAGTCCAAAAG... | GAACTGTGCAGTGTGCTGAGAGATTTATTTGGATGGAAGATGAGTTAATCTGTATACATCACAAGAGGAGAGCTGTGCCCAGCCTCTGGGGGGCCAGAGAATGCTGACTTAGGGAAACAGTCTCCCTCTGCCCACCGCCCTTATCCTGCCTCAGTGCCCCAGGGCTTCTGGCCACCCCCACACTCAGCTTTCATTCTGTCTGTCTGATTCCACTTCTCTGCTTGTATCCCTTCCTCTGAAGGAAATTATCTTGGAACAACTTTTCCAGAGAGGGCAAAGTGACCAATCTAGGACTTCCTTCAATCCTGGCAGTCCAAAAG... |
Task1_train_18038 | This sequence change occurs on Chromosome 12, altering CYP27B1 (cytochrome P450 family 27 subfamily B member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Multiple sclerosis, susceptibility to | GAACTGTGCAGTGTGCTGAGAGATTTATTTGGATGGAAGATGAGTTAATCTGTATACATCACAAGAGGAGAGCTGTGCCCAGCCTCTGGGGGGCCAGAGAATGCTGACTTAGGGAAACAGTCTCCCTCTGCCCACCGCCCTTATCCTGCCTCAGTGCCCCAGGGCTTCTGGCCACCCCCACACTCAGCTTTCATTCTGTCTGTCTGATTCCACTTCTCTGCTTGTATCCCTTCCTCTGAAGGAAATTATCTTGGAACAACTTTTCCAGAGAGGGCAAAGTGACCAATCTAGGACTTCCTTCAATCCTGGCAGTCCAAAAG... | GAACTGTGCAGTGTGCTGAGAGATTTATTTGGATGGAAGATGAGTTAATCTGTATACATCACAAGAGGAGAGCTGTGCCCAGCCTCTGGGGGGCCAGAGAATGCTGACTTAGGGAAACAGTCTCCCTCTGCCCACCGCCCTTATCCTGCCTCAGTGCCCCAGGGCTTCTGGCCACCCCCACACTCAGCTTTCATTCTGTCTGTCTGATTCCACTTCTCTGCTTGTATCCCTTCCTCTGAAGGAAATTATCTTGGAACAACTTTTCCAGAGAGGGCAAAGTGACCAATCTAGGACTTCCTTCAATCCTGGCAGTCCAAAAG... |
Task1_train_18039 | A sequence alteration has been identified in CYP27B1 (cytochrome P450 family 27 subfamily B member 1) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Vitamin D-dependent rickets, type 1A | TTCACCCCCCACCCCCTTAATCTCTTACAGGAAGCCAGACTAGACTTGGATGTTCCCACTACAGACAGAAACATGTCTGGGTTTGTGTTACAAACTACTCTTCCAGGCGTCCAGACCTCCCATTGTTATGGGGGTCACCCCCAGGACCTGAGAAACCAAGGTGGGAGATGGGAGGGTTAGAGTCTTGCCTCCAGGTCTTGTAGGAAGTGGGAATATGAGAGAAATAAGTCAAAATCAAGAATGGAATATTTGATTTATTCTAAAATTTGTGAATATTTAAAAATTTTCAATATAAAAAGCCAGAGGCCTGGGCAGGGACA... | TTCACCCCCCACCCCCTTAATCTCTTACAGGAAGCCAGACTAGACTTGGATGTTCCCACTACAGACAGAAACATGTCTGGGTTTGTGTTACAAACTACTCTTCCAGGCGTCCAGACCTCCCATTGTTATGGGGGTCACCCCCAGGACCTGAGAAACCAAGGTGGGAGATGGGAGGGTTAGAGTCTTGCCTCCAGGTCTTGTAGGAAGTGGGAATATGAGAGAAATAAGTCAAAATCAAGAATGGAATATTTGATTTATTCTAAAATTTGTGAATATTTAAAAATTTTCAATATAAAAAGCCAGAGGCCTGGGCAGGGACA... |
Task1_train_18040 | Here is a genetic alteration in CYP27B1 (cytochrome P450 family 27 subfamily B member 1) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Vitamin D-dependent rickets, type 1A | TTCACCCCCCACCCCCTTAATCTCTTACAGGAAGCCAGACTAGACTTGGATGTTCCCACTACAGACAGAAACATGTCTGGGTTTGTGTTACAAACTACTCTTCCAGGCGTCCAGACCTCCCATTGTTATGGGGGTCACCCCCAGGACCTGAGAAACCAAGGTGGGAGATGGGAGGGTTAGAGTCTTGCCTCCAGGTCTTGTAGGAAGTGGGAATATGAGAGAAATAAGTCAAAATCAAGAATGGAATATTTGATTTATTCTAAAATTTGTGAATATTTAAAAATTTTCAATATAAAAAGCCAGAGGCCTGGGCAGGGACA... | TTCACCCCCCACCCCCTTAATCTCTTACAGGAAGCCAGACTAGACTTGGATGTTCCCACTACAGACAGAAACATGTCTGGGTTTGTGTTACAAACTACTCTTCCAGGCGTCCAGACCTCCCATTGTTATGGGGGTCACCCCCAGGACCTGAGAAACCAAGGTGGGAGATGGGAGGGTTAGAGTCTTGCCTCCAGGTCTTGTAGGAAGTGGGAATATGAGAGAAATAAGTCAAAATCAAGAATGGAATATTTGATTTATTCTAAAATTTGTGAATATTTAAAAATTTTCAATATAAAAAGCCAGAGGCCTGGGCAGGGACA... |
Task1_train_18041 | A variant was discovered on Chromosome 12, affecting CYP27B1 (cytochrome P450 family 27 subfamily B member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Vitamin D-dependent rickets, type 1A | CTGAGAACTAAGTGATGGGGCAAACCCACTTAATAGTGGCCAGAGAGCAAAGGAGAGTTATAAGAAACCGTAAACCAGGCTAGGGCAGATTCACCTTCCTAGGGGCAAGACAAAGAAGGAAGGGGGTAGACAGAGCCTACTAAGTAAGCTGCTTATCCCTTCTGCCACATGGTTCAGATTCAATCTAAGAATGTGTATGGTGACACCTAGTCAGAGACAGGCCCTGGCAGGGGACATAAAAAACAAATAAGGCTTCACCCTTCCTCTCAAAGAGCTTACATGCAAAGACGAAGGACCAACCAGGTACAGACCAGATGCAC... | CTGAGAACTAAGTGATGGGGCAAACCCACTTAATAGTGGCCAGAGAGCAAAGGAGAGTTATAAGAAACCGTAAACCAGGCTAGGGCAGATTCACCTTCCTAGGGGCAAGACAAAGAAGGAAGGGGGTAGACAGAGCCTACTAAGTAAGCTGCTTATCCCTTCTGCCACATGGTTCAGATTCAATCTAAGAATGTGTATGGTGACACCTAGTCAGAGACAGGCCCTGGCAGGGGACATAAAAAACAAATAAGGCTTCACCCTTCCTCTCAAAGAGCTTACATGCAAAGACGAAGGACCAACCAGGTACAGACCAGATGCAC... |
Task1_train_18042 | An alteration has been detected in CYP27B1 (cytochrome P450 family 27 subfamily B member 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Vitamin D-dependent rickets, type 1A | ACCCACTTAATAGTGGCCAGAGAGCAAAGGAGAGTTATAAGAAACCGTAAACCAGGCTAGGGCAGATTCACCTTCCTAGGGGCAAGACAAAGAAGGAAGGGGGTAGACAGAGCCTACTAAGTAAGCTGCTTATCCCTTCTGCCACATGGTTCAGATTCAATCTAAGAATGTGTATGGTGACACCTAGTCAGAGACAGGCCCTGGCAGGGGACATAAAAAACAAATAAGGCTTCACCCTTCCTCTCAAAGAGCTTACATGCAAAGACGAAGGACCAACCAGGTACAGACCAGATGCACAGTTACTGAGCTTATGCTTTGAT... | ACCCACTTAATAGTGGCCAGAGAGCAAAGGAGAGTTATAAGAAACCGTAAACCAGGCTAGGGCAGATTCACCTTCCTAGGGGCAAGACAAAGAAGGAAGGGGGTAGACAGAGCCTACTAAGTAAGCTGCTTATCCCTTCTGCCACATGGTTCAGATTCAATCTAAGAATGTGTATGGTGACACCTAGTCAGAGACAGGCCCTGGCAGGGGACATAAAAAACAAATAAGGCTTCACCCTTCCTCTCAAAGAGCTTACATGCAAAGACGAAGGACCAACCAGGTACAGACCAGATGCACAGTTACTGAGCTTATGCTTTGAT... |
Task1_train_18043 | This genomic variant is located on Chromosome 12, within the CYP27B1 (cytochrome P450 family 27 subfamily B member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Vitamin D-dependent rickets, type 1A | AAAGAGCTTACATGCAAAGACGAAGGACCAACCAGGTACAGACCAGATGCACAGTTACTGAGCTTATGCTTTGATAAATGCTTAGCCAGCAGCATCAATGAACACTATGAAAGCCCAAAAAGAGAGGCAGTTGAATCTTTCCTCAGGCCATCCAGCATTATTAGTTAAAATCTGATTTCATCCTTGGGGGATGCATACATGATCAGAAGGGCCAAGCAAGCAGAGAGACCATGGTTTTCTCACCTGGCTTCCTGAGTCAGGCCAAGTGCATACTTCACACATTGGTCAGGGCCGCCTCACACTTCACTATGGTGGTTCTA... | AAAGAGCTTACATGCAAAGACGAAGGACCAACCAGGTACAGACCAGATGCACAGTTACTGAGCTTATGCTTTGATAAATGCTTAGCCAGCAGCATCAATGAACACTATGAAAGCCCAAAAAGAGAGGCAGTTGAATCTTTCCTCAGGCCATCCAGCATTATTAGTTAAAATCTGATTTCATCCTTGGGGGATGCATACATGATCAGAAGGGCCAAGCAAGCAGAGAGACCATGGTTTTCTCACCTGGCTTCCTGAGTCAGGCCAAGTGCATACTTCACACATTGGTCAGGGCCGCCTCACACTTCACTATGGTGGTTCTA... |
Task1_train_18044 | A variant was discovered in gene CYP27B1 (cytochrome P450 family 27 subfamily B member 1), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Vitamin D-dependent rickets, type 1A | GTGAGCATTACTATGAAAGATATCTATAATGGGGGGATTCATTGGTAATCCAATTGGTAAAGGGCATGCATTATTAGTGTTAGAATGGTCAATGATTGGGTGGCACCTGTGGCCAGTAGGGGACTTCTTGGTTAATAAGGGTGAGGGATTATGGTAGGGAAAAAATAGTTTGAATACCCTCACTTACACTCCAGGCCTATAATGGGCTTATCATATTTCAGAAGATTCATTCTACCAGGTCTTATATGATTTCCTATGCTTGTCAGGGGAAAGAGCTCACAACTTTAGAGGGTTAGGGTCTCTCCAGTCTGGGGAAGGTA... | GTGAGCATTACTATGAAAGATATCTATAATGGGGGGATTCATTGGTAATCCAATTGGTAAAGGGCATGCATTATTAGTGTTAGAATGGTCAATGATTGGGTGGCACCTGTGGCCAGTAGGGGACTTCTTGGTTAATAAGGGTGAGGGATTATGGTAGGGAAAAAATAGTTTGAATACCCTCACTTACACTCCAGGCCTATAATGGGCTTATCATATTTCAGAAGATTCATTCTACCAGGTCTTATATGATTTCCTATGCTTGTCAGGGGAAAGAGCTCACAACTTTAGAGGGTTAGGGTCTCTCCAGTCTGGGGAAGGTA... |
Task1_train_18045 | An alteration has been detected in CYP27B1 (cytochrome P450 family 27 subfamily B member 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Vitamin D-dependent rickets, type 1A | AAGGCATATCCTAGAGAGGGGTCAAGGGGAGTGTTTGAAGGGCTTTTAGGAGAGTGTTTGAGAACAGGGTTGGGGCCCAAGATAGTGAGGAATGGCTCAGTAGAAAGGGTGCATAGGCTTTACTCACATTTTTGGGGATAATATAGTCACCCACATGAATGTCTTTGTCTGGGACACGAGAATTTCCAGGTACCACAGGGTACAGTCTAGGTTGCAAAGCACAAAATGGAGACAACAAGATGAGGCTAGGGGCTGCAGCCCCCTTCTCATTGTTTCCAACTTCCAAACCCTTTTTGGCCAGGAGTAGAGGGCCATTTTTC... | AAGGCATATCCTAGAGAGGGGTCAAGGGGAGTGTTTGAAGGGCTTTTAGGAGAGTGTTTGAGAACAGGGTTGGGGCCCAAGATAGTGAGGAATGGCTCAGTAGAAAGGGTGCATAGGCTTTACTCACATTTTTGGGGATAATATAGTCACCCACATGAATGTCTTTGTCTGGGACACGAGAATTTCCAGGTACCACAGGGTACAGTCTAGGTTGCAAAGCACAAAATGGAGACAACAAGATGAGGCTAGGGGCTGCAGCCCCCTTCTCATTGTTTCCAACTTCCAAACCCTTTTTGGCCAGGAGTAGAGGGCCATTTTTC... |
Task1_train_18046 | This variant impacts the gene CYP27B1 (cytochrome P450 family 27 subfamily B member 1) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TTGGGGCCCAAGATAGTGAGGAATGGCTCAGTAGAAAGGGTGCATAGGCTTTACTCACATTTTTGGGGATAATATAGTCACCCACATGAATGTCTTTGTCTGGGACACGAGAATTTCCAGGTACCACAGGGTACAGTCTAGGTTGCAAAGCACAAAATGGAGACAACAAGATGAGGCTAGGGGCTGCAGCCCCCTTCTCATTGTTTCCAACTTCCAAACCCTTTTTGGCCAGGAGTAGAGGGCCATTTTTCTCTGCTATCTCCCTGCTTCCATCCACTAGTTGCTTCCCCAGCCCTTCCTTGGCATTTCCTCTTGTTCCT... | TTGGGGCCCAAGATAGTGAGGAATGGCTCAGTAGAAAGGGTGCATAGGCTTTACTCACATTTTTGGGGATAATATAGTCACCCACATGAATGTCTTTGTCTGGGACACGAGAATTTCCAGGTACCACAGGGTACAGTCTAGGTTGCAAAGCACAAAATGGAGACAACAAGATGAGGCTAGGGGCTGCAGCCCCCTTCTCATTGTTTCCAACTTCCAAACCCTTTTTGGCCAGGAGTAGAGGGCCATTTTTCTCTGCTATCTCCCTGCTTCCATCCACTAGTTGCTTCCCCAGCCCTTCCTTGGCATTTCCTCTTGTTCCT... |
Task1_train_18047 | Given a variant located on Chromosome 12 and affecting CYP27B1 (cytochrome P450 family 27 subfamily B member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | AACAGGAAGTGGGTCAGGTGCGCCCCAGACTCCAGGTCCTTCTCGGGCTGTCCTCCGTTCCTCATGGCTGCCTCTGCCTCTCGCCGCTCCACGTGCCTCTGAGCTGCGTGGGTAGAAGGCACGTGAATACCTCGCTACCCCTGGACAGCTTTACATTCCCCCATTTCCACCTCGACCTGTGCCTTACCAAATGCAAACATCTGGTCCCAGTCTCGGCAGAGGCGGCCCCAGGGCCCAGGCACAAGGTGGCGCAGCCAGTGGGGCATCGCCATGGTCAACAGCGTGGACACAAACACCGAGCCCACAGCGCGGATGAAGGT... | AACAGGAAGTGGGTCAGGTGCGCCCCAGACTCCAGGTCCTTCTCGGGCTGTCCTCCGTTCCTCATGGCTGCCTCTGCCTCTCGCCGCTCCACGTGCCTCTGAGCTGCGTGGGTAGAAGGCACGTGAATACCTCGCTACCCCTGGACAGCTTTACATTCCCCCATTTCCACCTCGACCTGTGCCTTACCAAATGCAAACATCTGGTCCCAGTCTCGGCAGAGGCGGCCCCAGGGCCCAGGCACAAGGTGGCGCAGCCAGTGGGGCATCGCCATGGTCAACAGCGTGGACACAAACACCGAGCCCACAGCGCGGATGAAGGT... |
Task1_train_18048 | A change on Chromosome 12 affects gene TSFM (Ts translation elongation factor, mitochondrial). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | GAGAGGAAATTGAAACTATCCGATGACATGGTGCTTTGAGCTGTGGACTTTTTCCGGATAGAAGGGATGATCAGGAGTTGTCTGTGTCAGTTATGGAGTATTCAGGATGGTGGGAAAAAGCACCTAATTGCTTTGGAGTCAGATCTGAGTTTTAATTCTAACTCTGCCTTGTGTTACTAGGTGGGTTACCTAAGTTCTCTAAGCCTAAGCTTATTGTAATAGTAGCTAGCATTTGAGTGCTATGTGCCAGATACTATAGTTAATGCTTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGA... | GAGAGGAAATTGAAACTATCCGATGACATGGTGCTTTGAGCTGTGGACTTTTTCCGGATAGAAGGGATGATCAGGAGTTGTCTGTGTCAGTTATGGAGTATTCAGGATGGTGGGAAAAAGCACCTAATTGCTTTGGAGTCAGATCTGAGTTTTAATTCTAACTCTGCCTTGTGTTACTAGGTGGGTTACCTAAGTTCTCTAAGCCTAAGCTTATTGTAATAGTAGCTAGCATTTGAGTGCTATGTGCCAGATACTATAGTTAATGCTTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGA... |
Task1_train_18049 | Consider a variant on Chromosome 12 in gene TSFM (Ts translation elongation factor, mitochondrial). Determine its clinical classification and disease relevance. | Pathogenic; Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | GAGAGGAAATTGAAACTATCCGATGACATGGTGCTTTGAGCTGTGGACTTTTTCCGGATAGAAGGGATGATCAGGAGTTGTCTGTGTCAGTTATGGAGTATTCAGGATGGTGGGAAAAAGCACCTAATTGCTTTGGAGTCAGATCTGAGTTTTAATTCTAACTCTGCCTTGTGTTACTAGGTGGGTTACCTAAGTTCTCTAAGCCTAAGCTTATTGTAATAGTAGCTAGCATTTGAGTGCTATGTGCCAGATACTATAGTTAATGCTTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGA... | GAGAGGAAATTGAAACTATCCGATGACATGGTGCTTTGAGCTGTGGACTTTTTCCGGATAGAAGGGATGATCAGGAGTTGTCTGTGTCAGTTATGGAGTATTCAGGATGGTGGGAAAAAGCACCTAATTGCTTTGGAGTCAGATCTGAGTTTTAATTCTAACTCTGCCTTGTGTTACTAGGTGGGTTACCTAAGTTCTCTAAGCCTAAGCTTATTGTAATAGTAGCTAGCATTTGAGTGCTATGTGCCAGATACTATAGTTAATGCTTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGA... |
Task1_train_18050 | A variant has been detected on Chromosome 12 in AVIL (advillin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Nephrotic syndrome, type 21 | AGAGTCCACCAAATTCACATGGGAAGATTGACTTATCCAGCCTCCATCTGCATAGAAGTTTATGAGATTTCTGCTAGGTGTAAGCAGGGCTTTCAGTGAGTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCGCAACCTCCGTCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGCTGCCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTC... | AGAGTCCACCAAATTCACATGGGAAGATTGACTTATCCAGCCTCCATCTGCATAGAAGTTTATGAGATTTCTGCTAGGTGTAAGCAGGGCTTTCAGTGAGTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCGCAACCTCCGTCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGCTGCCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTC... |
Task1_train_18051 | This variant affects the gene AVIL (advillin) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Steroid-resistant nephrotic syndrome | AGAGTCCACCAAATTCACATGGGAAGATTGACTTATCCAGCCTCCATCTGCATAGAAGTTTATGAGATTTCTGCTAGGTGTAAGCAGGGCTTTCAGTGAGTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCGCAACCTCCGTCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGCTGCCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTC... | AGAGTCCACCAAATTCACATGGGAAGATTGACTTATCCAGCCTCCATCTGCATAGAAGTTTATGAGATTTCTGCTAGGTGTAAGCAGGGCTTTCAGTGAGTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCGCAACCTCCGTCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGCTGCCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTC... |
Task1_train_18052 | The variant affects gene AVIL (advillin), which is on Chromosome 12. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Nephrotic syndrome, type 21 | TCGGCTCACCGCAACCTCCGTCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGCTGCCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTTGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTACAATCTCGGCTCACTGCAACC... | TCGGCTCACCGCAACCTCCGTCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGCTGCCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTTGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTACAATCTCGGCTCACTGCAACC... |
Task1_train_18053 | Gene AVIL (advillin), found on Chromosome 12, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Steroid-resistant nephrotic syndrome | TCGGCTCACCGCAACCTCCGTCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGCTGCCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTTGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTACAATCTCGGCTCACTGCAACC... | TCGGCTCACCGCAACCTCCGTCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGCTGCCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTTGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGCCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTACAATCTCGGCTCACTGCAACC... |
Task1_train_18054 | A mutation in AVIL (advillin), located on Chromosome 12, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Nephrotic syndrome, type 21 | TTTTTTTTAGACAGAGTCTCGCTCTCACCTAGGCTGGAGTGCCGTGGCGTGATCTCGGCTCACTGCAGCCTCCCGGGTTCAAGTGATTTTCCTATCTCAGTGCCCTGCCAGGTAGCCTGGACTACCGGCATGCGCCACCATGCCTGGATAATTTTTTTTGTATCTTTAGTAGAGACAGGGTTTCACTATGTTGGCAGGCTGGTCTTGAACTCCTTACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCTGAGTGCTTTACAAATGATATTTAATCCTCACA... | TTTTTTTTAGACAGAGTCTCGCTCTCACCTAGGCTGGAGTGCCGTGGCGTGATCTCGGCTCACTGCAGCCTCCCGGGTTCAAGTGATTTTCCTATCTCAGTGCCCTGCCAGGTAGCCTGGACTACCGGCATGCGCCACCATGCCTGGATAATTTTTTTTGTATCTTTAGTAGAGACAGGGTTTCACTATGTTGGCAGGCTGGTCTTGAACTCCTTACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCTGAGTGCTTTACAAATGATATTTAATCCTCACA... |
Task1_train_18055 | This variant lies on Chromosome 12 and affects the gene DPY19L2 (dpy-19 like 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spermatogenic failure 9 | TTTCAAAAACAAAATTCTAAATGTTCATATTGTTTACTAATATTATCATAAAATACTCATTATGTACTTTGTAATCTTATATTTTTCAAACAAAAATTACTTTTGACTAAGACACAGAGTATAGCACATGCCCTCAATGATACAACCCTAAATGTTCTAATTAAGACATTTTATTCCATGAAACCCCTGACTGACCAGACTGATATCACTTCAAAAAATAAAAATAACCCACCTTCCTAGGAATTAAACTGGGAATGAATAGCAAGGGGTGATGAAGAATGGGCAGCTTCCATCACCTAATCTTTGAGAGAAGGCAAAGT... | TTTCAAAAACAAAATTCTAAATGTTCATATTGTTTACTAATATTATCATAAAATACTCATTATGTACTTTGTAATCTTATATTTTTCAAACAAAAATTACTTTTGACTAAGACACAGAGTATAGCACATGCCCTCAATGATACAACCCTAAATGTTCTAATTAAGACATTTTATTCCATGAAACCCCTGACTGACCAGACTGATATCACTTCAAAAAATAAAAATAACCCACCTTCCTAGGAATTAAACTGGGAATGAATAGCAAGGGGTGATGAAGAATGGGCAGCTTCCATCACCTAATCTTTGAGAGAAGGCAAAGT... |
Task1_train_18056 | Given this variant in gene DPY19L2 (dpy-19 like 2) on Chromosome 12, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spermatogenic failure 9 | TTCAAAAACAAAATTCTAAATGTTCATATTGTTTACTAATATTATCATAAAATACTCATTATGTACTTTGTAATCTTATATTTTTCAAACAAAAATTACTTTTGACTAAGACACAGAGTATAGCACATGCCCTCAATGATACAACCCTAAATGTTCTAATTAAGACATTTTATTCCATGAAACCCCTGACTGACCAGACTGATATCACTTCAAAAAATAAAAATAACCCACCTTCCTAGGAATTAAACTGGGAATGAATAGCAAGGGGTGATGAAGAATGGGCAGCTTCCATCACCTAATCTTTGAGAGAAGGCAAAGTG... | TTCAAAAACAAAATTCTAAATGTTCATATTGTTTACTAATATTATCATAAAATACTCATTATGTACTTTGTAATCTTATATTTTTCAAACAAAAATTACTTTTGACTAAGACACAGAGTATAGCACATGCCCTCAATGATACAACCCTAAATGTTCTAATTAAGACATTTTATTCCATGAAACCCCTGACTGACCAGACTGATATCACTTCAAAAAATAAAAATAACCCACCTTCCTAGGAATTAAACTGGGAATGAATAGCAAGGGGTGATGAAGAATGGGCAGCTTCCATCACCTAATCTTTGAGAGAAGGCAAAGTG... |
Task1_train_18057 | A mutation on Chromosome 12 affecting DPY19L2 (dpy-19 like 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Spermatogenic failure 9 | TCATATTGTTTACTAATATTATCATAAAATACTCATTATGTACTTTGTAATCTTATATTTTTCAAACAAAAATTACTTTTGACTAAGACACAGAGTATAGCACATGCCCTCAATGATACAACCCTAAATGTTCTAATTAAGACATTTTATTCCATGAAACCCCTGACTGACCAGACTGATATCACTTCAAAAAATAAAAATAACCCACCTTCCTAGGAATTAAACTGGGAATGAATAGCAAGGGGTGATGAAGAATGGGCAGCTTCCATCACCTAATCTTTGAGAGAAGGCAAAGTGTAGAGCAAAGATATAGAAATCTG... | TCATATTGTTTACTAATATTATCATAAAATACTCATTATGTACTTTGTAATCTTATATTTTTCAAACAAAAATTACTTTTGACTAAGACACAGAGTATAGCACATGCCCTCAATGATACAACCCTAAATGTTCTAATTAAGACATTTTATTCCATGAAACCCCTGACTGACCAGACTGATATCACTTCAAAAAATAAAAATAACCCACCTTCCTAGGAATTAAACTGGGAATGAATAGCAAGGGGTGATGAAGAATGGGCAGCTTCCATCACCTAATCTTTGAGAGAAGGCAAAGTGTAGAGCAAAGATATAGAAATCTG... |
Task1_train_18058 | A variant found in Chromosome 12 affects RXYLT1 (ribitol xylosyltransferase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | ACTATTCTCCCCTTTCCCTCCCTAATAATCCCAATTTTGAAACTCATGTCAGCAGACAAAACCATCCATCACCCTTACTCTCTGAAATCATGCACTTACCCTTGGGTTTCTCCCCCTACTTCTTCGAAGAGTTTAGCTCCTGGTACTCTCTAGCTCTGTCTGACACTACTCTGTTCTCAATTCTTAGTGACTGGCAAATCTACATAGATGGTCTTTCTGTCATTTTGGTCTTTGCAGTTCCTTCACCTCCCCTCCTCCAATAATCTGGGCTTCCACCTGACCTCAGCCATTCTCTCTCATGGTTATTTCCTAGACTTTGT... | ACTATTCTCCCCTTTCCCTCCCTAATAATCCCAATTTTGAAACTCATGTCAGCAGACAAAACCATCCATCACCCTTACTCTCTGAAATCATGCACTTACCCTTGGGTTTCTCCCCCTACTTCTTCGAAGAGTTTAGCTCCTGGTACTCTCTAGCTCTGTCTGACACTACTCTGTTCTCAATTCTTAGTGACTGGCAAATCTACATAGATGGTCTTTCTGTCATTTTGGTCTTTGCAGTTCCTTCACCTCCCCTCCTCCAATAATCTGGGCTTCCACCTGACCTCAGCCATTCTCTCTCATGGTTATTTCCTAGACTTTGT... |
Task1_train_18059 | This genomic variant is located on Chromosome 12, within the RXYLT1 (ribitol xylosyltransferase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | ACTATTCTCCCCTTTCCCTCCCTAATAATCCCAATTTTGAAACTCATGTCAGCAGACAAAACCATCCATCACCCTTACTCTCTGAAATCATGCACTTACCCTTGGGTTTCTCCCCCTACTTCTTCGAAGAGTTTAGCTCCTGGTACTCTCTAGCTCTGTCTGACACTACTCTGTTCTCAATTCTTAGTGACTGGCAAATCTACATAGATGGTCTTTCTGTCATTTTGGTCTTTGCAGTTCCTTCACCTCCCCTCCTCCAATAATCTGGGCTTCCACCTGACCTCAGCCATTCTCTCTCATGGTTATTTCCTAGACTTTGT... | ACTATTCTCCCCTTTCCCTCCCTAATAATCCCAATTTTGAAACTCATGTCAGCAGACAAAACCATCCATCACCCTTACTCTCTGAAATCATGCACTTACCCTTGGGTTTCTCCCCCTACTTCTTCGAAGAGTTTAGCTCCTGGTACTCTCTAGCTCTGTCTGACACTACTCTGTTCTCAATTCTTAGTGACTGGCAAATCTACATAGATGGTCTTTCTGTCATTTTGGTCTTTGCAGTTCCTTCACCTCCCCTCCTCCAATAATCTGGGCTTCCACCTGACCTCAGCCATTCTCTCTCATGGTTATTTCCTAGACTTTGT... |
Task1_train_18060 | Assess the clinical impact of this variant on gene SRGAP1 (SLIT-ROBO Rho GTPase activating protein 1), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Thyroid cancer, nonmedullary, 2 | TTCTCATGCCTCAGCTTCCTGAGTAGCTGGAATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTGTATGTTCAATAGAGATGGGGTTTCACCATGTTGTCCATACTGGTCTTCAACTCCTGGCCTCAAGTGATCTGCCTGTCTTGGCCTCCCAAAGTCCTGGGATTACAGGCATGAGCCAACGCGACCAGCCATCTTTTCTTTTTAGACTTGCTACCTGAAACGTGGGTAGCTGAGCAGAGTTAGTTGGTGGCCTTTGATCCCATTAGAGAGTTCTAAATTGTTGGCCCAGATCCTTGAATGAAATCTGATATTAAA... | TTCTCATGCCTCAGCTTCCTGAGTAGCTGGAATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTGTATGTTCAATAGAGATGGGGTTTCACCATGTTGTCCATACTGGTCTTCAACTCCTGGCCTCAAGTGATCTGCCTGTCTTGGCCTCCCAAAGTCCTGGGATTACAGGCATGAGCCAACGCGACCAGCCATCTTTTCTTTTTAGACTTGCTACCTGAAACGTGGGTAGCTGAGCAGAGTTAGTTGGTGGCCTTTGATCCCATTAGAGAGTTCTAAATTGTTGGCCCAGATCCTTGAATGAAATCTGATATTAAA... |
Task1_train_18061 | A variant has been detected on Chromosome 12 in SRGAP1 (SLIT-ROBO Rho GTPase activating protein 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Thyroid cancer, nonmedullary, 2 | TATGCCTAGAGCCTAGCATATTCCCTGGCACTTAATCCATGGCCAATTAGTGAGTTGAATTGAATCAAACTGAATTGATTGAACTTCACTGGAACAATATAGGGAAAGGACCTGGTTTTGTAACTTTAAAGTCACTTCTTTCCTCTTTAAGTGATTTATACTGCTTTTATGTACAAATTGAAAATGAACCTGTCAGTAATTGATTACTAATTTCCAGTATTATGCTTTTTTTCAAGTCATATTCTCTTAAAATGCAACATGAAAAAATACAAATGCAAATTAAAGATAATGAAGATTCAAGAATCTCAAAGCTGTTATAT... | TATGCCTAGAGCCTAGCATATTCCCTGGCACTTAATCCATGGCCAATTAGTGAGTTGAATTGAATCAAACTGAATTGATTGAACTTCACTGGAACAATATAGGGAAAGGACCTGGTTTTGTAACTTTAAAGTCACTTCTTTCCTCTTTAAGTGATTTATACTGCTTTTATGTACAAATTGAAAATGAACCTGTCAGTAATTGATTACTAATTTCCAGTATTATGCTTTTTTTCAAGTCATATTCTCTTAAAATGCAACATGAAAAAATACAAATGCAAATTAAAGATAATGAAGATTCAAGAATCTCAAAGCTGTTATAT... |
Task1_train_18062 | Chromosome 12 houses a mutation in gene TBK1 (TANK binding kinase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | CCAGGTTTTGCTAAGTGTACTATCCTGCCATGTTAAAATATCAAAGCCTAAGTCTTCATTGTTAGCATGGTTATTTGCCTATGATAACCCTATGCAGATAATATGGTTACTATTAACCATAATAATGGTTAAAGCACCTGGCTCCGGAAAAATAATCAGTGTTTGTTTTATGTAAACAAAAACACATTACACCCATGTGATTAAAAAAAACTACCCATGTGATAAAACTGCATATAAAGTTTTGGTCAATGATGGACCATATATACAACACTGGTTCCGTAAGATTATAATATCATATTTTTACTGTACCTTTTCTATGT... | CCAGGTTTTGCTAAGTGTACTATCCTGCCATGTTAAAATATCAAAGCCTAAGTCTTCATTGTTAGCATGGTTATTTGCCTATGATAACCCTATGCAGATAATATGGTTACTATTAACCATAATAATGGTTAAAGCACCTGGCTCCGGAAAAATAATCAGTGTTTGTTTTATGTAAACAAAAACACATTACACCCATGTGATTAAAAAAAACTACCCATGTGATAAAACTGCATATAAAGTTTTGGTCAATGATGGACCATATATACAACACTGGTTCCGTAAGATTATAATATCATATTTTTACTGTACCTTTTCTATGT... |
Task1_train_18063 | A mutation found in TBK1 (TANK binding kinase 1) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | AAAAACTATCCTTAAAATCAACCTTTTGAATACTTTAAATCAGGGTCATGAACACCAGAACCTCTAAAGGCCAGGCAGGTAACAGAAAGGAATGAGATTGGCCAGTGGGGACTCATCTACAGGGGAGAGCCACTACTCATATTCACCAAAGGTATTGCCCAATCTTCCCATTTCTCAAAAAAAGCTAGAAATACAGAATTTGTTAGAAATACCTTGATTTTTAAATGTTAACTGTTAATTGTTTTTTACATTGTTATTTACAGACCAAATAAAAGCATCTGTGGGCCATAAGTAACCAATGAGCCACAAATCTATGACAT... | AAAAACTATCCTTAAAATCAACCTTTTGAATACTTTAAATCAGGGTCATGAACACCAGAACCTCTAAAGGCCAGGCAGGTAACAGAAAGGAATGAGATTGGCCAGTGGGGACTCATCTACAGGGGAGAGCCACTACTCATATTCACCAAAGGTATTGCCCAATCTTCCCATTTCTCAAAAAAAGCTAGAAATACAGAATTTGTTAGAAATACCTTGATTTTTAAATGTTAACTGTTAATTGTTTTTTACATTGTTATTTACAGACCAAATAAAAGCATCTGTGGGCCATAAGTAACCAATGAGCCACAAATCTATGACAT... |
Task1_train_18064 | Consider this mutation in LEMD3 (LEM domain containing 3) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Cerebral arteriovenous malformation | TCACTCATTGATGAAATTCCAAATAAGTGACAGCAAAATTGGAAATGTGAGGAAGCAGTATGCACACGTGTTTGCACGTGGGCACGCGCACACACACACACACACACCCCCCCCACACACACAGAGACAAACACCGCCTCTATTTTGCAGAGATAGAAACAATTAGTAGTGTGATGATACCTCTGTTGGGAATCTTACCTCATGCCTTAGGAATTGGCAAGTCCACTATTTTATTACCTAAGATGAAAATTTGTGATTTGAAGTGAAGTCACTTTCCTCTCTCTCCTGCCATCTTTGTCTCACAAGCAAGACAAATGTCC... | TCACTCATTGATGAAATTCCAAATAAGTGACAGCAAAATTGGAAATGTGAGGAAGCAGTATGCACACGTGTTTGCACGTGGGCACGCGCACACACACACACACACACCCCCCCCACACACACAGAGACAAACACCGCCTCTATTTTGCAGAGATAGAAACAATTAGTAGTGTGATGATACCTCTGTTGGGAATCTTACCTCATGCCTTAGGAATTGGCAAGTCCACTATTTTATTACCTAAGATGAAAATTTGTGATTTGAAGTGAAGTCACTTTCCTCTCTCTCCTGCCATCTTTGTCTCACAAGCAAGACAAATGTCC... |
Task1_train_18065 | This is a variant in NUP107 (nucleoporin 107), located on Chromosome 12. Is this mutation a likely cause of disease or not? | Pathogenic; Galloway-Mowat syndrome 7 | TGAAATAATTCCTTAGGAGAAAATAACATAGTGAGTACTAGAAAGTCAGAGAAGTCTTTGTGCAGGTAAGATTTGAGTAAGGCTTTGAAGAATAAGCAGGATTTGGAGCCAGGAGTGCGTTCTCAACAAAAGATCTAAGACTTGGCTACTAGAATGACTATACCTTAACTTACTCAGGGTCCTTTACTCCAACTGTGATGATAAAATTCTTTATAAATGCTATATTCTCGTTTCACTTATATAAGCTTGATTATACTACTTTAGGAGTGGCTTTGGAGAGATATCATCCCCTGTAATCCGGGAGGCAGAGGTGACACGGA... | TGAAATAATTCCTTAGGAGAAAATAACATAGTGAGTACTAGAAAGTCAGAGAAGTCTTTGTGCAGGTAAGATTTGAGTAAGGCTTTGAAGAATAAGCAGGATTTGGAGCCAGGAGTGCGTTCTCAACAAAAGATCTAAGACTTGGCTACTAGAATGACTATACCTTAACTTACTCAGGGTCCTTTACTCCAACTGTGATGATAAAATTCTTTATAAATGCTATATTCTCGTTTCACTTATATAAGCTTGATTATACTACTTTAGGAGTGGCTTTGGAGAGATATCATCCCCTGTAATCCGGGAGGCAGAGGTGACACGGA... |
Task1_train_18066 | Consider this mutation in NUP107 (nucleoporin 107) on Chromosome 12. Is this a benign change or a disease-causing variant? | Pathogenic; Galloway-Mowat syndrome 7 | TATTAAAACACTGTGTACTAAGAATTAAACACTGATATAAGGCAGAAAAGTAAAGGAGGTACCAAATGAATTTAGAGAAAAAGTACTGGGCTAAAGCTTAAAGCTGGCTTCCCTGAGGAAAGAATTGAATTGAACTTTTAAAACTTAGTAGGATTTGCGTTGTTGAGAATGAAAAACAAGAGGAAGGAATTCCAGGTAGGATACATAGATTGGGAAACTCAAAGTAAGGTGGGTCTACCAGGTTGGAGTAGAATGCTTATAAAGGAAATAAAGTCAGTTCTGTTGTAACACGACATAGGTATTCAAAGTCATCACAATGT... | TATTAAAACACTGTGTACTAAGAATTAAACACTGATATAAGGCAGAAAAGTAAAGGAGGTACCAAATGAATTTAGAGAAAAAGTACTGGGCTAAAGCTTAAAGCTGGCTTCCCTGAGGAAAGAATTGAATTGAACTTTTAAAACTTAGTAGGATTTGCGTTGTTGAGAATGAAAAACAAGAGGAAGGAATTCCAGGTAGGATACATAGATTGGGAAACTCAAAGTAAGGTGGGTCTACCAGGTTGGAGTAGAATGCTTATAAAGGAAATAAAGTCAGTTCTGTTGTAACACGACATAGGTATTCAAAGTCATCACAATGT... |
Task1_train_18067 | The gene NUP107 (nucleoporin 107) on Chromosome 12 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ovarian dysgenesis 6 | GTACTAAGAATTAAACACTGATATAAGGCAGAAAAGTAAAGGAGGTACCAAATGAATTTAGAGAAAAAGTACTGGGCTAAAGCTTAAAGCTGGCTTCCCTGAGGAAAGAATTGAATTGAACTTTTAAAACTTAGTAGGATTTGCGTTGTTGAGAATGAAAAACAAGAGGAAGGAATTCCAGGTAGGATACATAGATTGGGAAACTCAAAGTAAGGTGGGTCTACCAGGTTGGAGTAGAATGCTTATAAAGGAAATAAAGTCAGTTCTGTTGTAACACGACATAGGTATTCAAAGTCATCACAATGTACAACATTGTGCAA... | GTACTAAGAATTAAACACTGATATAAGGCAGAAAAGTAAAGGAGGTACCAAATGAATTTAGAGAAAAAGTACTGGGCTAAAGCTTAAAGCTGGCTTCCCTGAGGAAAGAATTGAATTGAACTTTTAAAACTTAGTAGGATTTGCGTTGTTGAGAATGAAAAACAAGAGGAAGGAATTCCAGGTAGGATACATAGATTGGGAAACTCAAAGTAAGGTGGGTCTACCAGGTTGGAGTAGAATGCTTATAAAGGAAATAAAGTCAGTTCTGTTGTAACACGACATAGGTATTCAAAGTCATCACAATGTACAACATTGTGCAA... |
Task1_train_18068 | A mutation found in NUP107 (nucleoporin 107) on Chromosome 12 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Nephrotic syndrome, type 11 | AAGCCAGTCTATCAGGTAGAAAGATCACCAAGACCTTTAACAGAGTGCCTTGGGCCCTGAAATAGTTACAGGTCACTGTAAAATTGGTAAACCAGTGATTTGACTCCTTTAGAAACCATTACAGAGAAGTCCGTAGGCATTCAAAATTGTGTATCTTTTTTCACAGCATCAAAAAAGCACGAAGCTGCAAAAGAAGTATTTGTGAAAATTCCTCAGGATTCTATAGCAGAAATCTATAATCAGTGCGAGGAACAAGGAATGGAAAGTCCACTTCCTGCTGAAGATGATAATGCTATCCGAGAACATTTGTGCATCAGAGC... | AAGCCAGTCTATCAGGTAGAAAGATCACCAAGACCTTTAACAGAGTGCCTTGGGCCCTGAAATAGTTACAGGTCACTGTAAAATTGGTAAACCAGTGATTTGACTCCTTTAGAAACCATTACAGAGAAGTCCGTAGGCATTCAAAATTGTGTATCTTTTTTCACAGCATCAAAAAAGCACGAAGCTGCAAAAGAAGTATTTGTGAAAATTCCTCAGGATTCTATAGCAGAAATCTATAATCAGTGCGAGGAACAAGGAATGGAAAGTCCACTTCCTGCTGAAGATGATAATGCTATCCGAGAACATTTGTGCATCAGAGC... |
Task1_train_18069 | Chromosome 12 houses a mutation in gene LYZ (lysozyme). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Amyloidosis, hereditary systemic 5 | GTTCCTGTCTTGGAAGTAGTGCTATGCCCCAATTCTTCCAGAGCCAGTACTTTAAACAATTCCATTTCATTATTTTCCTGTAGACTAATTCTTAGGACATCAGCATATCTCTCTTCAAGCATTAAAAAAATCTCTTTAGAGTCAGTGGATCAATAGACAGTTCCTGTTTTCCACACAACTGAAAGGGTGGAGCCCCCAAACCACAAGGGGAAGAAGGAAGTTAAAAGATGTTAAATACTGGGGCCAGCTCACCCTGGTCAGCCTAGCACTCTGACCTAGCAGTCAACATGAAGGCTCTCATTGTTCTGGGGCTTGTCCTC... | GTTCCTGTCTTGGAAGTAGTGCTATGCCCCAATTCTTCCAGAGCCAGTACTTTAAACAATTCCATTTCATTATTTTCCTGTAGACTAATTCTTAGGACATCAGCATATCTCTCTTCAAGCATTAAAAAAATCTCTTTAGAGTCAGTGGATCAATAGACAGTTCCTGTTTTCCACACAACTGAAAGGGTGGAGCCCCCAAACCACAAGGGGAAGAAGGAAGTTAAAAGATGTTAAATACTGGGGCCAGCTCACCCTGGTCAGCCTAGCACTCTGACCTAGCAGTCAACATGAAGGCTCTCATTGTTCTGGGGCTTGTCCTC... |
Task1_train_18070 | Assess the clinical impact of this variant on gene LYZ (lysozyme), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Amyloidosis, hereditary systemic 5 | TATGCCCCAATTCTTCCAGAGCCAGTACTTTAAACAATTCCATTTCATTATTTTCCTGTAGACTAATTCTTAGGACATCAGCATATCTCTCTTCAAGCATTAAAAAAATCTCTTTAGAGTCAGTGGATCAATAGACAGTTCCTGTTTTCCACACAACTGAAAGGGTGGAGCCCCCAAACCACAAGGGGAAGAAGGAAGTTAAAAGATGTTAAATACTGGGGCCAGCTCACCCTGGTCAGCCTAGCACTCTGACCTAGCAGTCAACATGAAGGCTCTCATTGTTCTGGGGCTTGTCCTCCTTTCTGTTACGGTCCAGGGCA... | TATGCCCCAATTCTTCCAGAGCCAGTACTTTAAACAATTCCATTTCATTATTTTCCTGTAGACTAATTCTTAGGACATCAGCATATCTCTCTTCAAGCATTAAAAAAATCTCTTTAGAGTCAGTGGATCAATAGACAGTTCCTGTTTTCCACACAACTGAAAGGGTGGAGCCCCCAAACCACAAGGGGAAGAAGGAAGTTAAAAGATGTTAAATACTGGGGCCAGCTCACCCTGGTCAGCCTAGCACTCTGACCTAGCAGTCAACATGAAGGCTCTCATTGTTCTGGGGCTTGTCCTCCTTTCTGTTACGGTCCAGGGCA... |
Task1_train_18071 | This mutation is located in gene LYZ (lysozyme) on Chromosome 12. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Amyloidosis, hereditary systemic 5 | TGCCCCAATTCTTCCAGAGCCAGTACTTTAAACAATTCCATTTCATTATTTTCCTGTAGACTAATTCTTAGGACATCAGCATATCTCTCTTCAAGCATTAAAAAAATCTCTTTAGAGTCAGTGGATCAATAGACAGTTCCTGTTTTCCACACAACTGAAAGGGTGGAGCCCCCAAACCACAAGGGGAAGAAGGAAGTTAAAAGATGTTAAATACTGGGGCCAGCTCACCCTGGTCAGCCTAGCACTCTGACCTAGCAGTCAACATGAAGGCTCTCATTGTTCTGGGGCTTGTCCTCCTTTCTGTTACGGTCCAGGGCAAG... | TGCCCCAATTCTTCCAGAGCCAGTACTTTAAACAATTCCATTTCATTATTTTCCTGTAGACTAATTCTTAGGACATCAGCATATCTCTCTTCAAGCATTAAAAAAATCTCTTTAGAGTCAGTGGATCAATAGACAGTTCCTGTTTTCCACACAACTGAAAGGGTGGAGCCCCCAAACCACAAGGGGAAGAAGGAAGTTAAAAGATGTTAAATACTGGGGCCAGCTCACCCTGGTCAGCCTAGCACTCTGACCTAGCAGTCAACATGAAGGCTCTCATTGTTCTGGGGCTTGTCCTCCTTTCTGTTACGGTCCAGGGCAAG... |
Task1_train_18072 | This variant lies on Chromosome 12 and affects the gene LYZ (lysozyme). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AGTACTTTAAACAATTCCATTTCATTATTTTCCTGTAGACTAATTCTTAGGACATCAGCATATCTCTCTTCAAGCATTAAAAAAATCTCTTTAGAGTCAGTGGATCAATAGACAGTTCCTGTTTTCCACACAACTGAAAGGGTGGAGCCCCCAAACCACAAGGGGAAGAAGGAAGTTAAAAGATGTTAAATACTGGGGCCAGCTCACCCTGGTCAGCCTAGCACTCTGACCTAGCAGTCAACATGAAGGCTCTCATTGTTCTGGGGCTTGTCCTCCTTTCTGTTACGGTCCAGGGCAAGGTCTTTGAAAGGTGTGAGTTG... | AGTACTTTAAACAATTCCATTTCATTATTTTCCTGTAGACTAATTCTTAGGACATCAGCATATCTCTCTTCAAGCATTAAAAAAATCTCTTTAGAGTCAGTGGATCAATAGACAGTTCCTGTTTTCCACACAACTGAAAGGGTGGAGCCCCCAAACCACAAGGGGAAGAAGGAAGTTAAAAGATGTTAAATACTGGGGCCAGCTCACCCTGGTCAGCCTAGCACTCTGACCTAGCAGTCAACATGAAGGCTCTCATTGTTCTGGGGCTTGTCCTCCTTTCTGTTACGGTCCAGGGCAAGGTCTTTGAAAGGTGTGAGTTG... |
Task1_train_18073 | Mutation context: Chromosome 12, Gene LYZ (lysozyme). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | AGTACTTTAAACAATTCCATTTCATTATTTTCCTGTAGACTAATTCTTAGGACATCAGCATATCTCTCTTCAAGCATTAAAAAAATCTCTTTAGAGTCAGTGGATCAATAGACAGTTCCTGTTTTCCACACAACTGAAAGGGTGGAGCCCCCAAACCACAAGGGGAAGAAGGAAGTTAAAAGATGTTAAATACTGGGGCCAGCTCACCCTGGTCAGCCTAGCACTCTGACCTAGCAGTCAACATGAAGGCTCTCATTGTTCTGGGGCTTGTCCTCCTTTCTGTTACGGTCCAGGGCAAGGTCTTTGAAAGGTGTGAGTTG... | AGTACTTTAAACAATTCCATTTCATTATTTTCCTGTAGACTAATTCTTAGGACATCAGCATATCTCTCTTCAAGCATTAAAAAAATCTCTTTAGAGTCAGTGGATCAATAGACAGTTCCTGTTTTCCACACAACTGAAAGGGTGGAGCCCCCAAACCACAAGGGGAAGAAGGAAGTTAAAAGATGTTAAATACTGGGGCCAGCTCACCCTGGTCAGCCTAGCACTCTGACCTAGCAGTCAACATGAAGGCTCTCATTGTTCTGGGGCTTGTCCTCCTTTCTGTTACGGTCCAGGGCAAGGTCTTTGAAAGGTGTGAGTTG... |
Task1_train_18074 | A sequence alteration has been identified in KCNC2 (potassium voltage-gated channel subfamily C member 2) on Chromosome 12. Is it disease-inducing or harmless? | Pathogenic; Developmental and epileptic encephalopathy 103 | TTGGATTTTATCTAATAGGAAACTGCCTTTCACACGACTAATATGAATTCAAAATAAATGTGAAAATGAAGAAGCATGTGGATTATTGTCTTACAATTTTTGACGTTATCTATTTACTCTGAATAGGAATATTTAAAAATGGAACCTATTTAAGAAAATATCTTAAGTAAACTTTGGCTTTGTGGTTTTTTAAGAGACATGCTTTTATTAATTTCTGAAAGCATTGTGTCCAAAACTCTTAATAAAAATTATTCCAAAGCACACAAACTCCGTTTCCAGGTAGTCAATTTTGAAGCGGCAAGATATTTTTGAGCATGCAG... | TTGGATTTTATCTAATAGGAAACTGCCTTTCACACGACTAATATGAATTCAAAATAAATGTGAAAATGAAGAAGCATGTGGATTATTGTCTTACAATTTTTGACGTTATCTATTTACTCTGAATAGGAATATTTAAAAATGGAACCTATTTAAGAAAATATCTTAAGTAAACTTTGGCTTTGTGGTTTTTTAAGAGACATGCTTTTATTAATTTCTGAAAGCATTGTGTCCAAAACTCTTAATAAAAATTATTCCAAAGCACACAAACTCCGTTTCCAGGTAGTCAATTTTGAAGCGGCAAGATATTTTTGAGCATGCAG... |
Task1_train_18075 | Here is a genetic alteration in KCNC2 (potassium voltage-gated channel subfamily C member 2) on Chromosome 12. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Developmental and epileptic encephalopathy 103 | ACGTTATCTATTTACTCTGAATAGGAATATTTAAAAATGGAACCTATTTAAGAAAATATCTTAAGTAAACTTTGGCTTTGTGGTTTTTTAAGAGACATGCTTTTATTAATTTCTGAAAGCATTGTGTCCAAAACTCTTAATAAAAATTATTCCAAAGCACACAAACTCCGTTTCCAGGTAGTCAATTTTGAAGCGGCAAGATATTTTTGAGCATGCAGTGGAACAAGGCCAACTTCTCCAAATGTCCTTGAAATAAGTATCTGTTTACTTCTGTATCCTTGCCAAAGACTTTCACCATCCTATTGGCCTAGATACTAGCT... | ACGTTATCTATTTACTCTGAATAGGAATATTTAAAAATGGAACCTATTTAAGAAAATATCTTAAGTAAACTTTGGCTTTGTGGTTTTTTAAGAGACATGCTTTTATTAATTTCTGAAAGCATTGTGTCCAAAACTCTTAATAAAAATTATTCCAAAGCACACAAACTCCGTTTCCAGGTAGTCAATTTTGAAGCGGCAAGATATTTTTGAGCATGCAGTGGAACAAGGCCAACTTCTCCAAATGTCCTTGAAATAAGTATCTGTTTACTTCTGTATCCTTGCCAAAGACTTTCACCATCCTATTGGCCTAGATACTAGCT... |
Task1_train_18076 | Given a variant located on Chromosome 12 and affecting KCNC2 (potassium voltage-gated channel subfamily C member 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Developmental and epileptic encephalopathy 103 | TTATAAAGAAATATCGTAGTAAATGCTTTTTAAACACAATTTTCAAGTCAATGGTTTATCCTTTTGATCAATAAACTATAGAATCAAATTTCATGGCAATGATAAAAGTTGAACACCTTCTTAAAGTTTTTGCTATGCAATCTGGCCTACAATAAGATGTATTATGTTATCATAAGGAAAAATAGTAAAACATTATGTCCTTTTGTAGCACATGATCTGGAAAAAAAGAATCACATGATGGGCCTGAAAACAAATTCAGATTATCTTTTTAGCCACCAAGTGGAAAGAGCTCCATAACACTCAGCTGGAATCCAAAAAAC... | TTATAAAGAAATATCGTAGTAAATGCTTTTTAAACACAATTTTCAAGTCAATGGTTTATCCTTTTGATCAATAAACTATAGAATCAAATTTCATGGCAATGATAAAAGTTGAACACCTTCTTAAAGTTTTTGCTATGCAATCTGGCCTACAATAAGATGTATTATGTTATCATAAGGAAAAATAGTAAAACATTATGTCCTTTTGTAGCACATGATCTGGAAAAAAAGAATCACATGATGGGCCTGAAAACAAATTCAGATTATCTTTTTAGCCACCAAGTGGAAAGAGCTCCATAACACTCAGCTGGAATCCAAAAAAC... |
Task1_train_18077 | A variant was discovered in gene KCNC2 (potassium voltage-gated channel subfamily C member 2), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Developmental and epileptic encephalopathy 103 | GCAATGATAAAAGTTGAACACCTTCTTAAAGTTTTTGCTATGCAATCTGGCCTACAATAAGATGTATTATGTTATCATAAGGAAAAATAGTAAAACATTATGTCCTTTTGTAGCACATGATCTGGAAAAAAAGAATCACATGATGGGCCTGAAAACAAATTCAGATTATCTTTTTAGCCACCAAGTGGAAAGAGCTCCATAACACTCAGCTGGAATCCAAAAAACACAGATGCACAGATGTAATGGTCATGAGCCTGTGGTTTAATTTAAATGAATATGCACTTGCGGTTTTGTTTGGTTGGTTTGGGTTTTTTTTTTTT... | GCAATGATAAAAGTTGAACACCTTCTTAAAGTTTTTGCTATGCAATCTGGCCTACAATAAGATGTATTATGTTATCATAAGGAAAAATAGTAAAACATTATGTCCTTTTGTAGCACATGATCTGGAAAAAAAGAATCACATGATGGGCCTGAAAACAAATTCAGATTATCTTTTTAGCCACCAAGTGGAAAGAGCTCCATAACACTCAGCTGGAATCCAAAAAACACAGATGCACAGATGTAATGGTCATGAGCCTGTGGTTTAATTTAAATGAATATGCACTTGCGGTTTTGTTTGGTTGGTTTGGGTTTTTTTTTTTT... |
Task1_train_18078 | A genetic alteration is present in KCNC2 (potassium voltage-gated channel subfamily C member 2) on Chromosome 12. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Developmental and epileptic encephalopathy 103 | AGTTTTTGCTATGCAATCTGGCCTACAATAAGATGTATTATGTTATCATAAGGAAAAATAGTAAAACATTATGTCCTTTTGTAGCACATGATCTGGAAAAAAAGAATCACATGATGGGCCTGAAAACAAATTCAGATTATCTTTTTAGCCACCAAGTGGAAAGAGCTCCATAACACTCAGCTGGAATCCAAAAAACACAGATGCACAGATGTAATGGTCATGAGCCTGTGGTTTAATTTAAATGAATATGCACTTGCGGTTTTGTTTGGTTGGTTTGGGTTTTTTTTTTTTTTTTCCTGAATGCCAACTCTGTTGTTGAA... | AGTTTTTGCTATGCAATCTGGCCTACAATAAGATGTATTATGTTATCATAAGGAAAAATAGTAAAACATTATGTCCTTTTGTAGCACATGATCTGGAAAAAAAGAATCACATGATGGGCCTGAAAACAAATTCAGATTATCTTTTTAGCCACCAAGTGGAAAGAGCTCCATAACACTCAGCTGGAATCCAAAAAACACAGATGCACAGATGTAATGGTCATGAGCCTGTGGTTTAATTTAAATGAATATGCACTTGCGGTTTTGTTTGGTTGGTTTGGGTTTTTTTTTTTTTTTTCCTGAATGCCAACTCTGTTGTTGAA... |
Task1_train_18079 | Mutation context: Chromosome 12, Gene BBS10 (Bardet-Biedl syndrome 10). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Bardet-Biedl syndrome | CCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTA... | CCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTA... |
Task1_train_18080 | This mutation occurs in BBS10 (Bardet-Biedl syndrome 10) on Chromosome 12. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Bardet-Biedl syndrome 10 | CCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTA... | CCTCCCCAAAATAGATCCTTTGCCCATGAAAGTTTATAGAAATTATAATCTCATCTATGAGGACCAAATGACAGATTCATTCAACAAATAGGCCCTCAATAGGCATCTATTGTGTGTAAGATATTAGACCAAGTGCCAAACGTACAAAGACCCAGTCCTACCTCAACAGGGCTCCTGGACTAGTGACTATACCTATTAAATGCTTATCATATGCAAAGCACTGGGCATGTCTGGAAGTCATTAAATGCTTACAGTAATGGAGGAGTGTTTTAAACAACCACAAAAAAAGCAAAGTGACCAAATGACCTGAAAGGCAATTA... |
Task1_train_18081 | This variant affects the gene BBS10 (Bardet-Biedl syndrome 10) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Bardet-Biedl syndrome | AAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCA... | AAATTAGAAATAAAAATTAAAAATAAAACAGAAATAAACATTAGAAATAAAAATTGTCAAATTATTTGTTACTGTGGAACTCTGGCTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCA... |
Task1_train_18082 | The gene BBS10 (Bardet-Biedl syndrome 10) on Chromosome 12 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinal dystrophy | CTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAA... | CTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAA... |
Task1_train_18083 | This variant impacts the gene BBS10 (Bardet-Biedl syndrome 10) on Chromosome 12. Is the change likely to result in a pathogenic outcome? | Pathogenic; Bardet-Biedl syndrome | CTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAA... | CTATGCACCAGATACAAGAAAAACCAGTAAATACATGACATATCCTTACAAGCTCTTGGGGTCAGGAGAAAATCAAAGTATTAATTGCATATCCTTTCTAGTATTAACCTTTTACTACAGAAATGAAAGAGTTAACAATGCACAGTTATATTTCAGGTAACATATATTCAAAGGTATATCAAAGGTGAAAATCTATCCAAGTTTTCCAAATGAAGTGGCAGTAAACCAATGACCACATAAAAGTAAAAATTAATTTTATGCTTTTTGAAAAAAAATTTGAGCCTTTTACTCACTGCTAATTTAATTTTATGCTTTTTGAA... |
Task1_train_18084 | With a mutation on Chromosome 12 in gene BBS10 (Bardet-Biedl syndrome 10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Bardet-Biedl syndrome | AAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTG... | AAGTATGAGTAGGGAAAATTAATGCAAATAATGTATTCAATATTAAAAACAATTAGAATAAGCCCACCCAAATCAGAGATTAAATGATTCTATGAACTAAACATGTAACGATGAAGGAGGGCTGGAGTGAAAAAGATACAGGAGAGTAAAAAGGAGCTATAAAGAAAAACCCTCCCCTAAACACATAGGCTAACACAGAGCTGAGACACAGAGGCATAAAATAGGGAAAAAACAGACACACTTAGCCAAATCTTGGCTTCCCCTCTAGATTTGTTCCATAAAGTAATTTAATATTTGTATCTGGTCTGGTGACCTTAGTG... |
Task1_train_18085 | This variant lies on Chromosome 12 and affects the gene BBS10 (Bardet-Biedl syndrome 10). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Retinal dystrophy | CTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATT... | CTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATT... |
Task1_train_18086 | Located on Chromosome 12, this mutation impacts BBS10 (Bardet-Biedl syndrome 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Bardet-Biedl syndrome 10 | CTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATT... | CTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATT... |
Task1_train_18087 | This gene mutation involves BBS10 (Bardet-Biedl syndrome 10) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Bardet-Biedl syndrome | CTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATT... | CTGGTGACCTTAGTGTGCTTCTTCTAAAGACTTTTAAAGTTACGCTATTTTCCTAAGTAGACTGAACTGACTTTAGAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATT... |
Task1_train_18088 | Gene BBS10 (Bardet-Biedl syndrome 10) on Chromosome 12 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Bardet-Biedl syndrome | GAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACAGCTCTTATATATGTATGTGGAAAGCTGTACTTTCCTGTTTTAGATTTATAAAGGAC... | GAACCAGTGGTCACATGACTGCTTTACTTGGCTTGAGTTAGATGAAAAGTTTGGTTAATTAAAAACTTCTGATGTTATAGTTCATCTTCTGAATCTTGATTGTGAACTTTCTGAGGGTGTCTCTTAACAGTGATTACCATGTCAATGGTTAATATTTTTGTCAAACACTGAAGAACTGAAGTTAGTAGCTGGTATTTACCCATTACTGATTCCAAACCTGTCTGACTGCTTACCAAGGGTTGATTGGTTTGCAGTGCATGGACAGCTCTTATATATGTATGTGGAAAGCTGTACTTTCCTGTTTTAGATTTATAAAGGAC... |
Task1_train_18089 | An alteration has been detected in SYT1 (synaptotagmin 1) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Syndromic intellectual disability | TTTTTTAATTCCACAAAATAAATATAAAGCAAGGCATTGAGATGAAAACTCCCATTGAGCTACAATTCTATGCCTTTAAAATAAATATCCTTTTCAACTACAAACTGCAGAAAATGCAGGTATATTGAAAGTGAAGCACATTAAAAATAAGACACATGCTAGGTTTCTGGGGCAGCATTTCAGAGGCAATAGCGTTTTGTCAGGACAGACAGAAACTATGCCCAATATAGAATACATTAGACATGGAAATAATGAGCATTCCTTTGACTGTATCCCTCTTTCTCTGCTCCTTGAGTCACTTTGTTCTTTTTTTTTTCCTT... | TTTTTTAATTCCACAAAATAAATATAAAGCAAGGCATTGAGATGAAAACTCCCATTGAGCTACAATTCTATGCCTTTAAAATAAATATCCTTTTCAACTACAAACTGCAGAAAATGCAGGTATATTGAAAGTGAAGCACATTAAAAATAAGACACATGCTAGGTTTCTGGGGCAGCATTTCAGAGGCAATAGCGTTTTGTCAGGACAGACAGAAACTATGCCCAATATAGAATACATTAGACATGGAAATAATGAGCATTCCTTTGACTGTATCCCTCTTTCTCTGCTCCTTGAGTCACTTTGTTCTTTTTTTTTTCCTT... |
Task1_train_18090 | A variant affecting Chromosome 12, within the gene PTPRQ (protein tyrosine phosphatase receptor type Q), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 84A | ATGAGGTTAATGGGAATAATTTCCCCTAATTCTAGCTTCATATTGGTTTCAAGCCAACTCAAATAGAACTCAGATTATTATTATTATTACTCTATATAATTAATAATTGATAGAAAAGCATAATGAAATTCTGAAGTAAGTTGATTTTGAAAATGTAAAATACAATAATTACAACCAATTGCAGGGTATCCACTTGATATTAGGCACTAGACATTTATAAACATTCCAGAAATCTGCTTTTTGGTGAAAATGGTTGTATAATTGATTCAGTTTGCTATGTTTTTCATATCTAATGAAACTACATATTCCAAAATAGTTAA... | ATGAGGTTAATGGGAATAATTTCCCCTAATTCTAGCTTCATATTGGTTTCAAGCCAACTCAAATAGAACTCAGATTATTATTATTATTACTCTATATAATTAATAATTGATAGAAAAGCATAATGAAATTCTGAAGTAAGTTGATTTTGAAAATGTAAAATACAATAATTACAACCAATTGCAGGGTATCCACTTGATATTAGGCACTAGACATTTATAAACATTCCAGAAATCTGCTTTTTGGTGAAAATGGTTGTATAATTGATTCAGTTTGCTATGTTTTTCATATCTAATGAAACTACATATTCCAAAATAGTTAA... |
Task1_train_18091 | A variant was discovered in gene MYF5 (myogenic factor 5), Chromosome 12. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Ophthalmoplegia, external, with rib and vertebral anomalies | GTTTTCAAGGTCTTCACTTTAGAGAGATCGCACCCTGAAAAGGTTGCTACTTCTCTGGCCCCTGAAGATGCTGGATCAATGAACCAGTGTTGCTTTAAGAAAATAATTCTGAAAAAAAAGTACAAAGTACCATTCACTGAAAGAAATAATAATAATAATAGGAAGGAAAACTCCCTCCTCCTCGCAATAACTTCGGAGCCACTATATTTATTGAACTGGGTTACCCTAGATTGAGTTGAGAACACTCCTGCTTCTTTCAACGGGGCCACAAGACCTAGTCCAAAACCCCAAGACTAATTGTGTAGACCTTAAGTAATTGC... | GTTTTCAAGGTCTTCACTTTAGAGAGATCGCACCCTGAAAAGGTTGCTACTTCTCTGGCCCCTGAAGATGCTGGATCAATGAACCAGTGTTGCTTTAAGAAAATAATTCTGAAAAAAAAGTACAAAGTACCATTCACTGAAAGAAATAATAATAATAATAGGAAGGAAAACTCCCTCCTCCTCGCAATAACTTCGGAGCCACTATATTTATTGAACTGGGTTACCCTAGATTGAGTTGAGAACACTCCTGCTTCTTTCAACGGGGCCACAAGACCTAGTCCAAAACCCCAAGACTAATTGTGTAGACCTTAAGTAATTGC... |
Task1_train_18092 | A variant on Chromosome 12 in gene MYF5 (myogenic factor 5) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; External ophthalmoplegia | GTTTTCAAGGTCTTCACTTTAGAGAGATCGCACCCTGAAAAGGTTGCTACTTCTCTGGCCCCTGAAGATGCTGGATCAATGAACCAGTGTTGCTTTAAGAAAATAATTCTGAAAAAAAAGTACAAAGTACCATTCACTGAAAGAAATAATAATAATAATAGGAAGGAAAACTCCCTCCTCCTCGCAATAACTTCGGAGCCACTATATTTATTGAACTGGGTTACCCTAGATTGAGTTGAGAACACTCCTGCTTCTTTCAACGGGGCCACAAGACCTAGTCCAAAACCCCAAGACTAATTGTGTAGACCTTAAGTAATTGC... | GTTTTCAAGGTCTTCACTTTAGAGAGATCGCACCCTGAAAAGGTTGCTACTTCTCTGGCCCCTGAAGATGCTGGATCAATGAACCAGTGTTGCTTTAAGAAAATAATTCTGAAAAAAAAGTACAAAGTACCATTCACTGAAAGAAATAATAATAATAATAGGAAGGAAAACTCCCTCCTCCTCGCAATAACTTCGGAGCCACTATATTTATTGAACTGGGTTACCCTAGATTGAGTTGAGAACACTCCTGCTTCTTTCAACGGGGCCACAAGACCTAGTCCAAAACCCCAAGACTAATTGTGTAGACCTTAAGTAATTGC... |
Task1_train_18093 | Here is a mutation in MYF5 (myogenic factor 5) on Chromosome 12. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Abnormal rib morphology | GTTTTCAAGGTCTTCACTTTAGAGAGATCGCACCCTGAAAAGGTTGCTACTTCTCTGGCCCCTGAAGATGCTGGATCAATGAACCAGTGTTGCTTTAAGAAAATAATTCTGAAAAAAAAGTACAAAGTACCATTCACTGAAAGAAATAATAATAATAATAGGAAGGAAAACTCCCTCCTCCTCGCAATAACTTCGGAGCCACTATATTTATTGAACTGGGTTACCCTAGATTGAGTTGAGAACACTCCTGCTTCTTTCAACGGGGCCACAAGACCTAGTCCAAAACCCCAAGACTAATTGTGTAGACCTTAAGTAATTGC... | GTTTTCAAGGTCTTCACTTTAGAGAGATCGCACCCTGAAAAGGTTGCTACTTCTCTGGCCCCTGAAGATGCTGGATCAATGAACCAGTGTTGCTTTAAGAAAATAATTCTGAAAAAAAAGTACAAAGTACCATTCACTGAAAGAAATAATAATAATAATAGGAAGGAAAACTCCCTCCTCCTCGCAATAACTTCGGAGCCACTATATTTATTGAACTGGGTTACCCTAGATTGAGTTGAGAACACTCCTGCTTCTTTCAACGGGGCCACAAGACCTAGTCCAAAACCCCAAGACTAATTGTGTAGACCTTAAGTAATTGC... |
Task1_train_18094 | This variant lies on Chromosome 12 and affects the gene MYF5 (myogenic factor 5). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Scoliosis | GTTTTCAAGGTCTTCACTTTAGAGAGATCGCACCCTGAAAAGGTTGCTACTTCTCTGGCCCCTGAAGATGCTGGATCAATGAACCAGTGTTGCTTTAAGAAAATAATTCTGAAAAAAAAGTACAAAGTACCATTCACTGAAAGAAATAATAATAATAATAGGAAGGAAAACTCCCTCCTCCTCGCAATAACTTCGGAGCCACTATATTTATTGAACTGGGTTACCCTAGATTGAGTTGAGAACACTCCTGCTTCTTTCAACGGGGCCACAAGACCTAGTCCAAAACCCCAAGACTAATTGTGTAGACCTTAAGTAATTGC... | GTTTTCAAGGTCTTCACTTTAGAGAGATCGCACCCTGAAAAGGTTGCTACTTCTCTGGCCCCTGAAGATGCTGGATCAATGAACCAGTGTTGCTTTAAGAAAATAATTCTGAAAAAAAAGTACAAAGTACCATTCACTGAAAGAAATAATAATAATAATAGGAAGGAAAACTCCCTCCTCCTCGCAATAACTTCGGAGCCACTATATTTATTGAACTGGGTTACCCTAGATTGAGTTGAGAACACTCCTGCTTCTTTCAACGGGGCCACAAGACCTAGTCCAAAACCCCAAGACTAATTGTGTAGACCTTAAGTAATTGC... |
Task1_train_18095 | An alteration has been detected in CEP290 (centrosomal protein 290) on Chromosome 12. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Nephronophthisis | CAAAACAAACTTTTAAATAAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGC... | CAAAACAAACTTTTAAATAAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGC... |
Task1_train_18096 | Assess the clinical impact of this variant on gene CEP290 (centrosomal protein 290), found on Chromosome 12. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Familial aplasia of the vermis | CAAAACAAACTTTTAAATAAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGC... | CAAAACAAACTTTTAAATAAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGC... |
Task1_train_18097 | This variant affects the gene CEP290 (centrosomal protein 290) found on Chromosome 12. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Meckel-Gruber syndrome | CAAAACAAACTTTTAAATAAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGC... | CAAAACAAACTTTTAAATAAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGC... |
Task1_train_18098 | A variant has been detected on Chromosome 12 in CEP290 (centrosomal protein 290). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Joubert syndrome 5 | CAAAACAAACTTTTAAATAAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGC... | CAAAACAAACTTTTAAATAAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGC... |
Task1_train_18099 | This gene mutation involves CEP290 (centrosomal protein 290) on Chromosome 12. Is it associated with any clinical condition, or is it benign? | Pathogenic; Meckel-Gruber syndrome | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... | AAATTTCAATAACAAAATTAATTCTTTTAAAAGAGTCCATCATGATTATAAGGTAACAAAAAGTATTATATGGCAGATCCATAAAATAGGAGTCTAGAAATATTTATTATTAAATGTTATATATTAAAAATAAACTGAATATATATATTTTATAGAATATAATTTAATTTTCTACAGTTTAATGAACAAATGGAATTCATTATTTAATACCATAATAAACTTTTTCCAAGGTGCTTACCAAATTTTGCTTGTTCTTCTCCAGCTTTTTCTACTTCTTCCAAAGCCAGCTCCACTTCTTGAGCTTTCATCTAAACATTAAA... |
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