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_3800 | The gene GGCX (gamma-glutamyl carboxylase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | GCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTT... | GCCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTT... |
Task1_train_3801 | This alteration occurs within gene GGCX (gamma-glutamyl carboxylase) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | CCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTT... | CCATCAGATATAGGCCACTTATTCTTCCAGTAAATCAAGAAGAATGGCAGGAAAAGATACCTAGAGCTAAACTGTCCTTTCCTGTATGACAGTCTCTAGAGTTACTCTCCCCAGGGGAAAGTTACCAAGCTTGCCAACATATGATGGCAATGACAAATATTGTTGTGAACTTACCTGCGGCGAAAGACATAGAGCTTTCGCAACAAGAAGCGGAAGAATCGCTCATGGAAAGGAGTATTTCGCCGGCGTTCAATCTCCTGGAGCCTTTGTTGGCGTCTAAGAAAGGTCTGAACCAGAGGTGTTGGCTCAGGGCCCCCTTT... |
Task1_train_3802 | This variant lies on Chromosome 2 and affects the gene GGCX (gamma-glutamyl carboxylase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Vitamin K-dependent clotting factors, combined deficiency of, type 1 | TGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGC... | TGTTGACATAGACGTACATGTAGCAAGAAGGGCTAGGTGATGTCGTATACACCTTATGGTACTCACCAGCAGGCAACTGACAAGGGAGAAGAAATGGATAAATTTCATCAGCTTTTCTCTAGCCAGCTTATGGCCTCCCTACTCTATGACTCTTGGCTTCTTTCTACTCAATTGTGTTTTGGAATCGAAAGTAACGGACCTCTAGAATCCTGGATGAGGCTCTTCACAGTCCCAGGGGCCCTTGTTTTTTGAGCTCCACTGCATTACTGCTATGGTAAAATATTTTCAGTCTATAATAAGTGAATCTTGCTCATCTAAGC... |
Task1_train_3803 | Gene GGCX (gamma-glutamyl carboxylase) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | TCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAA... | TCAGTTCTTTCTGCTGTTGTTAATCCCAGCAAAATACCTGCATTTTTTCTCCCTCTCGAAGAGTCTGGTTCTTCTGTTCTGCCACAAGCTCCACAGTCACTTCCCCCTGCAGCAGCTGGATGCTAGTGTTGCCCAGGTCTTCACTCACAAAATTCTCCAAGTGCAGTCCTGCCAGACCAACAGAGTTCATCATCCCACCCCATGGCAGAGTGAACTCACTCCCAGCCAGAACAGAGACATCACACCTTTACCACCATCATCCCCTTAGGTTTCAAAAACATTCCCTCTCCCCTCCCACCACATGGAATGTCCCTGGCCAA... |
Task1_train_3804 | This variant affects gene GGCX (gamma-glutamyl carboxylase) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency | AACAGCAAAAAGTTCAGTATTTCTTGTTAGCTCCCAGTTGAGTTTGTTCTAATGGATCAAATCAGGAAAAAAGGACTACAATACTAGAAAATTACTGAAAAAGGGGAGGAATTTGATGGAGTGTTTGAAAAGCTATGTATGTGTAAATAAATATGCGGTGTATTATCTTTAAAAAAAAATGAAAACCCTCAACAGCAGAGTAACACACAACATAAACTAACATTTCATAGACCTGGGTGCCAGGATCCAGTATAAGAGGGTTCCTGCTAACAGCTTGTATTCTGGAAGAGAACTGATTAGACCCAGGCTACTAACACCAG... | AACAGCAAAAAGTTCAGTATTTCTTGTTAGCTCCCAGTTGAGTTTGTTCTAATGGATCAAATCAGGAAAAAAGGACTACAATACTAGAAAATTACTGAAAAAGGGGAGGAATTTGATGGAGTGTTTGAAAAGCTATGTATGTGTAAATAAATATGCGGTGTATTATCTTTAAAAAAAAATGAAAACCCTCAACAGCAGAGTAACACACAACATAAACTAACATTTCATAGACCTGGGTGCCAGGATCCAGTATAAGAGGGTTCCTGCTAACAGCTTGTATTCTGGAAGAGAACTGATTAGACCCAGGCTACTAACACCAG... |
Task1_train_3805 | The gene GGCX (gamma-glutamyl carboxylase), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GTAGTTCATACCTATAATACCAACATTTTGGGAAGCTAAAGCGAGAGAATCTCTGGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGACTGCACCACTGCATTCTGGCCTCAGTGACAGAGCAAGACCCTGACTCCAAAAAACATAAAATGTGAACAGCACCATCGACCTTACAGGGTTTTAATGAGGAAAAACTCTAAATATTTAGTATAGTGCCTGCGATGTGGAAAACCCTGAATAAATGATAAGTGATTTTTTCAAAATGCATAAAGTCATAAAAATGGAACTTCTGACTAGCCTGAGCAACATAGTGAGATCCC... | GTAGTTCATACCTATAATACCAACATTTTGGGAAGCTAAAGCGAGAGAATCTCTGGAGCCCAGGAGTTTGAGGTTGCAGTGAGCTATGACTGCACCACTGCATTCTGGCCTCAGTGACAGAGCAAGACCCTGACTCCAAAAAACATAAAATGTGAACAGCACCATCGACCTTACAGGGTTTTAATGAGGAAAAACTCTAAATATTTAGTATAGTGCCTGCGATGTGGAAAACCCTGAATAAATGATAAGTGATTTTTTCAAAATGCATAAAGTCATAAAAATGGAACTTCTGACTAGCCTGAGCAACATAGTGAGATCCC... |
Task1_train_3806 | This alteration in SFTPB (surfactant protein B) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary pulmonary alveolar proteinosis | AGATGTTCACTCCAGAACACCCACTTTGTACCCCCACCCCACCAGCACACACTGGCCAGGGAACACAGCCCCATCCTATAATGGACATCCAGCCGCACTCCTCAGGCCATCCCTCCCTTCCCATCCCCCTTTTCCATGCTCTCATGATTTTTTACACTGAAACAGAGAGGGGTGCCTCCCAGTCCCTGGCCCGTGCACCTGGGACCACCTTGGACCCAGGGGAGTGAGGCCTCTGAGGATCACGGGCCCAAAGGGTGGGGGCTCTGGGAGCCAAGGGAAGTCCTAGGACCAACTGGGAGGGGTGGGTGTACCTGGCAGGT... | AGATGTTCACTCCAGAACACCCACTTTGTACCCCCACCCCACCAGCACACACTGGCCAGGGAACACAGCCCCATCCTATAATGGACATCCAGCCGCACTCCTCAGGCCATCCCTCCCTTCCCATCCCCCTTTTCCATGCTCTCATGATTTTTTACACTGAAACAGAGAGGGGTGCCTCCCAGTCCCTGGCCCGTGCACCTGGGACCACCTTGGACCCAGGGGAGTGAGGCCTCTGAGGATCACGGGCCCAAAGGGTGGGGGCTCTGGGAGCCAAGGGAAGTCCTAGGACCAACTGGGAGGGGTGGGTGTACCTGGCAGGT... |
Task1_train_3807 | Chromosome 2 houses a mutation in gene SFTPB (surfactant protein B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CTGGCAGAGGGTCCCGCAGAGGTTTGGGCAGGGGGTCTGACATCCCTGGCTCCTGCTCTGGCTCTGGCTGCCGGGATTTGCACAGGCCCAGGTGCATACAGATGCCGTTTGAGTCCTGGGGCACAGCACAGGGTGGGAGTGTTAGGGTCTGGGAGGGAAGCCCACCCCTATTCAGGCCGGCCCAAGGGCTCAGGGACCACTGGAATGGGAGGAAGCAGGCCTAGTGGGGGTGCTGTGGTTTAGAACTCTATGTGGGGGGACAAAAGGCAAAGATAGGGCTGTGTGGGGACTTTAGGGCAGGTGGCCGGGATTGTGTGTGA... | CTGGCAGAGGGTCCCGCAGAGGTTTGGGCAGGGGGTCTGACATCCCTGGCTCCTGCTCTGGCTCTGGCTGCCGGGATTTGCACAGGCCCAGGTGCATACAGATGCCGTTTGAGTCCTGGGGCACAGCACAGGGTGGGAGTGTTAGGGTCTGGGAGGGAAGCCCACCCCTATTCAGGCCGGCCCAAGGGCTCAGGGACCACTGGAATGGGAGGAAGCAGGCCTAGTGGGGGTGCTGTGGTTTAGAACTCTATGTGGGGGGACAAAAGGCAAAGATAGGGCTGTGTGGGGACTTTAGGGCAGGTGGCCGGGATTGTGTGTGA... |
Task1_train_3808 | Given this variant in gene ST3GAL5 (ST3 beta-galactoside alpha-2,3-sialyltransferase 5) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; GM3 synthase deficiency | ATGTGCAAGAACCACTGGAAGAGGGCCAGGTGCAGTGGCTCATGTTTGTAATCCCAGCACTTTTGGAGGCTGAGGCGGGTGGATCTCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAACTGGGCGTGGTGGCAGGCGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGATGCGGAGGCTGCAGAGAGCCAAGACTGCACCACTGCACTCCAGCCCTCTAGCCTGGACAACAGAATGAGACTCCATCCCCAAAAAA... | ATGTGCAAGAACCACTGGAAGAGGGCCAGGTGCAGTGGCTCATGTTTGTAATCCCAGCACTTTTGGAGGCTGAGGCGGGTGGATCTCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTATTAAAAATACAAAAATTAACTGGGCGTGGTGGCAGGCGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGATGCGGAGGCTGCAGAGAGCCAAGACTGCACCACTGCACTCCAGCCCTCTAGCCTGGACAACAGAATGAGACTCCATCCCCAAAAAA... |
Task1_train_3809 | This variant lies on Chromosome 2 and affects the gene LOC126806264, POLR1A (MED14-independent group 3 enhancer GRCh37_chr2:86296595-86297794| RNA polymerase I subunit A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Acrofacial dysostosis Cincinnati type | AGCCCACTGCAGGACACAATGTAAGCATGAAGTCTCCTATGGCTTTGCACCGTATTCAATCAAAATCAAGCACAGCACATTCAAGGTCACTGGTCTGAGGACTTCAGAGCACCTCAACTCCCCACATAGCTAATGCCTCAGGTCACTCTGCCAGCAAAAAACCATCTGCTGCTCCCCGGTAGTGTCCCCTCTGGTGAAATATGACTCGGCTGCTATAGAGTCAGAGACCCACACAGTTCTGGCAGCCACTTCCTGTCACCTGCCTTCCCTTAGTCCCAGCCTTGGCTGTCGAGTGGGGCTAAGAACACGCACAGCCAAGC... | AGCCCACTGCAGGACACAATGTAAGCATGAAGTCTCCTATGGCTTTGCACCGTATTCAATCAAAATCAAGCACAGCACATTCAAGGTCACTGGTCTGAGGACTTCAGAGCACCTCAACTCCCCACATAGCTAATGCCTCAGGTCACTCTGCCAGCAAAAAACCATCTGCTGCTCCCCGGTAGTGTCCCCTCTGGTGAAATATGACTCGGCTGCTATAGAGTCAGAGACCCACACAGTTCTGGCAGCCACTTCCTGTCACCTGCCTTCCCTTAGTCCCAGCCTTGGCTGTCGAGTGGGGCTAAGAACACGCACAGCCAAGC... |
Task1_train_3810 | Given this variant in gene REEP1 (receptor accessory protein 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary spastic paraplegia 31 | ATTTAATTCTAAAATCAAATATCACCCCATTTGTATATCGATGGGAGGGATTACAAAGCTGAAAGAAATGAGTATTACTGGATAAGGGAGATTGTTTTACACATATTCAAATAAAATCAGAAATTAGAAGTCATCCAGTGTCATGCAACAAGGTAAAGGTGAGATGGAAAACAGGATTGAGGTCTTCTTCAGGGACCAAAGCCAAGTACAATATTGGTTTAGTTCAAATTTGGATTAACTTTGGTGTATTATTTTTGTTTGTTTGGGAGTGTTTTGTTGTTGTCATTGTTTTAAGAAAATGGCTGTTTGTCGGCCGGGTG... | ATTTAATTCTAAAATCAAATATCACCCCATTTGTATATCGATGGGAGGGATTACAAAGCTGAAAGAAATGAGTATTACTGGATAAGGGAGATTGTTTTACACATATTCAAATAAAATCAGAAATTAGAAGTCATCCAGTGTCATGCAACAAGGTAAAGGTGAGATGGAAAACAGGATTGAGGTCTTCTTCAGGGACCAAAGCCAAGTACAATATTGGTTTAGTTCAAATTTGGATTAACTTTGGTGTATTATTTTTGTTTGTTTGGGAGTGTTTTGTTGTTGTCATTGTTTTAAGAAAATGGCTGTTTGTCGGCCGGGTG... |
Task1_train_3811 | A change on Chromosome 2 affects gene REEP1 (receptor accessory protein 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 31 | ATGTTTATGTGTATGCATATCTAAAAGCACAGCACTTGATTCTCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGG... | ATGTTTATGTGTATGCATATCTAAAAGCACAGCACTTGATTCTCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGG... |
Task1_train_3812 | This variant affects the gene REEP1 (receptor accessory protein 1) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 31 | TCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGGCAACCCACCCCTTCATTTCCTGATGCAGCTCTGTACAAAATG... | TCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGGCAACCCACCCCTTCATTTCCTGATGCAGCTCTGTACAAAATG... |
Task1_train_3813 | An alteration has been detected in REEP1 (receptor accessory protein 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Spinal muscular atrophy, distal, autosomal recessive, 6 | TCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGGCAACCCACCCCTTCATTTCCTGATGCAGCTCTGTACAAAATG... | TCTACCTTGTCTATGATGCAAAGACCTTTGTTCACGTGTTTGTCTGCTGACCCTCTCCCCACTATTGTCTTGCGACCCTGACACATCCCCCTCTCGGAGAAACACCCACGAATGATCAATAAATACTAAGGGAACTCAGAAGCTGGCGGGATCCTCCATATGCCGAACGCTGGTTCCCTGGGTCCCCCTATTTTTTTCTCTATACTTTGTCTCTGTGTCTTTTTCTTTTCCAAGTCTCTCGTTCCACCTAACGAGAAACACCCACAGGTGTGGAGAGGCAACCCACCCCTTCATTTCCTGATGCAGCTCTGTACAAAATG... |
Task1_train_3814 | The gene REEP1 (receptor accessory protein 1), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary spastic paraplegia 31 | AGGAGTGTGAGTGCAGAGAAAGGCAGTTCCCTCCTGATACTACTCGGCTTGTTTCTTCAGATTCCTTTTTTACCAAGAAACCTAATCTAAACTCTTGCACGTTCCCTACTGGGAAAAGCATGTGCTCAGCAGCCAACACAAACAGCTGCTCTGCTCATCAATTATGGTTTTCACTCTAAATTAATGAATTGCCATTCTAGTCATAAACCAGGCTTCTGTGAGTTTAGTCAGAGCAAAACAATTTACCAGGGTTTGATCTCTCTCAGAAGAGCTGACAGAGTTGTTTTCGCCCCTGCAAAGTGAAGGATTAGACCTTATAC... | AGGAGTGTGAGTGCAGAGAAAGGCAGTTCCCTCCTGATACTACTCGGCTTGTTTCTTCAGATTCCTTTTTTACCAAGAAACCTAATCTAAACTCTTGCACGTTCCCTACTGGGAAAAGCATGTGCTCAGCAGCCAACACAAACAGCTGCTCTGCTCATCAATTATGGTTTTCACTCTAAATTAATGAATTGCCATTCTAGTCATAAACCAGGCTTCTGTGAGTTTAGTCAGAGCAAAACAATTTACCAGGGTTTGATCTCTCTCAGAAGAGCTGACAGAGTTGTTTTCGCCCCTGCAAAGTGAAGGATTAGACCTTATAC... |
Task1_train_3815 | A variant affecting Chromosome 2, within the gene CD8A (CD8 subunit alpha), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Susceptibility to respiratory infections associated with CD8alpha chain mutation | CACAGGCCAGATGCCAGCCTTGGCCTCTCTTTGCTCAGGAACTGGCTGACTCCCTGCCCCAGGATTTCACGGCCATGACCTCTCTCTGGGAAAAGTTCCCACTATTTGCTGCTGGGGAAACCAGGACCCCACCCCAGGGCTGGCCAAGGTGAGCAGGCTGAGTTCAAAAGAGACTCACCGGGGACATTTGCAAACACGTCTTCGGTTCCCTGGATAAGGAAAAAGAAGGGAAAAAGTGAGTGCCCCTATCCATCAATAGTCCCCAAAGACAGTGTATTTTTTGTTGTTGCTGTTGTTGTTGCTGCTGTTTTTTGGTTTTA... | CACAGGCCAGATGCCAGCCTTGGCCTCTCTTTGCTCAGGAACTGGCTGACTCCCTGCCCCAGGATTTCACGGCCATGACCTCTCTCTGGGAAAAGTTCCCACTATTTGCTGCTGGGGAAACCAGGACCCCACCCCAGGGCTGGCCAAGGTGAGCAGGCTGAGTTCAAAAGAGACTCACCGGGGACATTTGCAAACACGTCTTCGGTTCCCTGGATAAGGAAAAAGAAGGGAAAAAGTGAGTGCCCCTATCCATCAATAGTCCCCAAAGACAGTGTATTTTTTGTTGTTGCTGTTGTTGTTGCTGCTGTTTTTTGGTTTTA... |
Task1_train_3816 | Given a variant located on Chromosome 2 and affecting FOXI3 (forkhead box I3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | AGGCTAACCATTACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCA... | AGGCTAACCATTACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCA... |
Task1_train_3817 | The gene FOXI3 (forkhead box I3) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Craniofacial microsomia 2 | ACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATT... | ACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATT... |
Task1_train_3818 | This genomic variant is located on Chromosome 2, within the FOXI3 (forkhead box I3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Craniofacial microsomia 1 | ACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATT... | ACAAACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATT... |
Task1_train_3819 | This sequence change occurs on Chromosome 2, altering FOXI3 (forkhead box I3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Craniofacial microsomia 2 | ACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAG... | ACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAG... |
Task1_train_3820 | A variant affecting Chromosome 2, within the gene FOXI3 (forkhead box I3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Craniofacial microsomia | ACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAG... | ACTAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAG... |
Task1_train_3821 | A variant on Chromosome 2 in gene FOXI3 (forkhead box I3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Craniofacial microsomia 2 | TAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCT... | TAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCT... |
Task1_train_3822 | Mutation context: Chromosome 2, Gene FOXI3 (forkhead box I3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Craniofacial microsomia | TAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCT... | TAGGACAATTGTCACCCCAGATTTTGGACTATGGCAGCAGGATTCAGACAGAGGTGCCACCCAGGGGAACACACCAGATGACTTTTATTTTCAACTAGAATCTTTGGTCAAATGAGATCTAGCTCCATTCCTTCCCTCTATATACTTATAACTGGCTATGGAGGCTGGTTTCTTGGTTTTGCAGGAAGTAGAATACAGAAGTTACAAGCACCAGCTCTGGAACCAGATTGTCTGGGTCTGATCCTGGCTCCAGTTTACTATCAGTCTCACCTTGGAAAGTGGTCACAACTTTTTTTTAGCCACCTGTGCACATTTGAGCT... |
Task1_train_3823 | The variant affects gene EIF2AK3 (eukaryotic translation initiation factor 2 alpha kinase 3), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | TCTACTTGCCGAACTCTCACAATTTAAAATTCAGTTCAAATATGACTTCATTTATGATGTCCTCCTAGATCATCACAAACAGATTTAGTGATTTGGTTCATGGCTTTCTTCTTACATGCTTGTTTTACCCAGTAGTATCTTTCCCATAGACTTTAAGCTTCTCCAGGATAGGAGCAGTCTTTTTATTTCTCCCAAAGCCTGAAATATTGTCCTGCACACAGCTGTTCCGAATAAATGTTTAATGAACAGTGAATAACTTCAGTAGTAGACTACCTCATGGGAGTTGTTGGATCCTTTATTCTTTCTCTCACTGCCTGCTG... | TCTACTTGCCGAACTCTCACAATTTAAAATTCAGTTCAAATATGACTTCATTTATGATGTCCTCCTAGATCATCACAAACAGATTTAGTGATTTGGTTCATGGCTTTCTTCTTACATGCTTGTTTTACCCAGTAGTATCTTTCCCATAGACTTTAAGCTTCTCCAGGATAGGAGCAGTCTTTTTATTTCTCCCAAAGCCTGAAATATTGTCCTGCACACAGCTGTTCCGAATAAATGTTTAATGAACAGTGAATAACTTCAGTAGTAGACTACCTCATGGGAGTTGTTGGATCCTTTATTCTTTCTCTCACTGCCTGCTG... |
Task1_train_3824 | Gene RPIA (ribose 5-phosphate isomerase A) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Deficiency of ribose-5-phosphate isomerase | TTTGTGCCATTGGTCACTCACACAGACTAACTCTGGGACAATGGGAAGGGATGATCCAAAGGGATGAATGTCAGGAGGTGAGGATTATTGGGGCCCTCTTTGAGGCCACTTTCCAATGTTTTTGTAGTCTCAGATCTGAAGTTAGGATGGTTTCTCTAATACTACTTTTACTTTTTTAAACTTTAAAGTTCAGGGGTACATGTGCAGGTTTGTTATGTAGGTAAACATGTCATGGGGGTTTGCTGTACAGATTATTTTGTCACCCAGGTGTTAAGCCTAGTACCCATTAGTTATTTTCCCTGATCGTCTCCTTCCTCCCA... | TTTGTGCCATTGGTCACTCACACAGACTAACTCTGGGACAATGGGAAGGGATGATCCAAAGGGATGAATGTCAGGAGGTGAGGATTATTGGGGCCCTCTTTGAGGCCACTTTCCAATGTTTTTGTAGTCTCAGATCTGAAGTTAGGATGGTTTCTCTAATACTACTTTTACTTTTTTAAACTTTAAAGTTCAGGGGTACATGTGCAGGTTTGTTATGTAGGTAAACATGTCATGGGGGTTTGCTGTACAGATTATTTTGTCACCCAGGTGTTAAGCCTAGTACCCATTAGTTATTTTCCCTGATCGTCTCCTTCCTCCCA... |
Task1_train_3825 | With a mutation on Chromosome 2 in gene RPIA (ribose 5-phosphate isomerase A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GTGGTTTTTGTATCTTTACCTTTCCCCCAATACAGATCGACCTTGCCATCGATGGTGCTGATGAAGTAGATGCTGATCTCAATCTCATCAAGGGTGGCGGGTGAGTGTTGTGGGGGCTTCTGTGCTAAAGAGTATCTGCCAGTTAATCCTTAGCAAAGCAAGATGGATACAGAATAAACAAATTGCCACTGTGACATATGCAAGTTTGTCTTTCTCCTAGGATATTGATAGCATATGGCCTTAGACCCAACTCAGCATTTCTGGTCATTAGCAGCAATTTACTGACAAGGAACCTGGGCCTCTTTAGTGAGATCATTCAT... | GTGGTTTTTGTATCTTTACCTTTCCCCCAATACAGATCGACCTTGCCATCGATGGTGCTGATGAAGTAGATGCTGATCTCAATCTCATCAAGGGTGGCGGGTGAGTGTTGTGGGGGCTTCTGTGCTAAAGAGTATCTGCCAGTTAATCCTTAGCAAAGCAAGATGGATACAGAATAAACAAATTGCCACTGTGACATATGCAAGTTTGTCTTTCTCCTAGGATATTGATAGCATATGGCCTTAGACCCAACTCAGCATTTCTGGTCATTAGCAGCAATTTACTGACAAGGAACCTGGGCCTCTTTAGTGAGATCATTCAT... |
Task1_train_3826 | A variant was discovered in gene IGK, IGKC (immunoglobulin kappa locus| immunoglobulin kappa constant), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Recurrent infections associated with rare immunoglobulin isotypes deficiency | AAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCCTTCCCAAACATGTGAGTGTTCATACATGGGTTTCCAGTGTCTGGGCAAGGTTAATTCTGTCCTCTGTCCCCTTGCTGAAGGTCTGTTTCATTTAATTTCTATGTATGTGTGCTCCTAGCTAGCCAAACA... | AAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCCTTCCCAAACATGTGAGTGTTCATACATGGGTTTCCAGTGTCTGGGCAAGGTTAATTCTGTCCTCTGTCCCCTTGCTGAAGGTCTGTTTCATTTAATTTCTATGTATGTGTGCTCCTAGCTAGCCAAACA... |
Task1_train_3827 | Here is a variant affecting IGK, IGKC (immunoglobulin kappa locus| immunoglobulin kappa constant) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Recurrent infections associated with rare immunoglobulin isotypes deficiency | AAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCCTTCCCAAACATGTGAGTGTTCATACATGGGTTTCCAGTGTCTGGGCAAGGTTAATTCTGTCCTCTGTCCCCTTGCTGAAGGTCTGTTTCATTTAATTTCTATGTATGTGTGCTCCTAGCTAGCCAAACA... | AAAGCAGGACAAAGGGATTGTCAGTCATTTGAGGGAAGGGATGCTGTGTTAGTTACTCCTGAACCCCTTCAGAGTGTAGGCAGAGAGAGGTACTTAGAAAGGTGTGTTGGATGGATGAGTAGCTGAGAGGGGCAGGGCCAGAGTGCCCCATAGAATGAGGAAGAGTCCTCATTTACATGTGCCCTTCCCCCTTCCCAAACATGTGAGTGTTCATACATGGGTTTCCAGTGTCTGGGCAAGGTTAATTCTGTCCTCTGTCCCCTTGCTGAAGGTCTGTTTCATTTAATTTCTATGTATGTGTGCTCCTAGCTAGCCAAACA... |
Task1_train_3828 | This gene mutation involves LOC129934333, TMEM127 (ATAC-STARR-seq lymphoblastoid silent region 11759| transmembrane protein 127) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | TCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGG... | TCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGG... |
Task1_train_3829 | A variant affecting Chromosome 2, within the gene LOC129934333, TMEM127 (ATAC-STARR-seq lymphoblastoid silent region 11759| transmembrane protein 127), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary pheochromocytoma-paraganglioma | TCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGG... | TCAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGG... |
Task1_train_3830 | A sequence alteration has been identified in LOC129934333, TMEM127 (ATAC-STARR-seq lymphoblastoid silent region 11759| transmembrane protein 127) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Hereditary pheochromocytoma-paraganglioma | CAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGC... | CAGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGC... |
Task1_train_3831 | Given this variant in gene LOC129934333, TMEM127 (ATAC-STARR-seq lymphoblastoid silent region 11759| transmembrane protein 127) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hereditary pheochromocytoma-paraganglioma | AGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGCA... | AGAAGTGTGAGCCAGTTCCTGGCCTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGCGCAATGGCGCGATCTCAGCTCACTGCAACCTCGGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGAATTACAGATGCCTGCCACCACGCCCGGCTCAAAAATTTACTTTTATTTTTAACATGCCTTCGACAAGGATGCACACCAAAGTGAAATAATTATGAGATTGCTCCTTATGACAGCTGAAGTAAAACAAAGGATAAAAACTATAAATGACACGGCA... |
Task1_train_3832 | With a mutation on Chromosome 2 in gene SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinitis pigmentosa 33 | AAACACCGGTGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACC... | AAACACCGGTGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACC... |
Task1_train_3833 | Here’s a variant in SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Retinitis pigmentosa 33 | TGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACCCCCACTCCC... | TGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACCCCCACTCCC... |
Task1_train_3834 | Here is a genetic alteration in SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinal dystrophy | TGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACCCCCACTCCC... | TGATGTACTCAGCCATGGACTGAGGAAACAGTGCCTGCTCTGTGAATGTCCCCGTTATTTATCATGATGTGGTGAGGAGGCTTCAGTGCCACCCCATGGTTCTGGTTCAATACTTGAGCGCCAGGGGCAGGCCTCTAAGCCTCCTGGGCCCGAGAAATGACCATGCCATGTAAGGCCTTGCTCTATTGCCCCTCCACAGTGACACATGCAGAGCAGCAAAGCAACCAAAGGCTTCTGACAAAGGAAAAAGTCCTGGTGGGTCCCAGCGGTCACACTGAGGAGCTCCCAGACCTCCCAAGTGCCTGAGCACCCCCACTCCC... |
Task1_train_3835 | Located on Chromosome 2, this mutation impacts SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinitis pigmentosa 33 | AAATCACTTTGCTGCTGGGAAGCAGACACTGCGTGCTGTGGCTCTTCCTGTCTCTCTGAGGGCCCGTGGAGCCTCGAAGCATTCCCTCTTAAGGTCTTACCTTTCCCACGTGCTCAAGATGTATACTACAGAGTGGCTGTACCACACATGCACCAACCAACTACCCGGCAAGAGCAGAACTAAGCACTCCTCCCATCTCACTAGGGTCGGGCCTCCTTTCCCCAGGATGCACACAGCACACAGGGATTGAACTGTTCAGGCCCCTTCTCACAGCTGCCATACAACTCCGCTCTCACCTGTGTGACATACACCATGTCAGC... | AAATCACTTTGCTGCTGGGAAGCAGACACTGCGTGCTGTGGCTCTTCCTGTCTCTCTGAGGGCCCGTGGAGCCTCGAAGCATTCCCTCTTAAGGTCTTACCTTTCCCACGTGCTCAAGATGTATACTACAGAGTGGCTGTACCACACATGCACCAACCAACTACCCGGCAAGAGCAGAACTAAGCACTCCTCCCATCTCACTAGGGTCGGGCCTCCTTTCCCCAGGATGCACACAGCACACAGGGATTGAACTGTTCAGGCCCCTTCTCACAGCTGCCATACAACTCCGCTCTCACCTGTGTGACATACACCATGTCAGC... |
Task1_train_3836 | Given this variant in gene SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Retinitis pigmentosa 33 | TGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAG... | TGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAG... |
Task1_train_3837 | This variant affects gene SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | TGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAG... | TGCTGACTATTAATGAGCTCCAACCTCTAACTGTGGACCATAAGTTACTGTCCTATAGGTTTTTTGTACTTTTTTTTTGGTAAAGTATATGACCCAATGTCATTATTGTCCTAATAGGACAACTGGATGAAGTCACAGCAGTACAAGTGCCAGGCCCAGGCACATGAAGAAAAACAGCAGAATAAGCTGACCCATAGTGAAATGATGTCTGCACGGACAAGACAGCTGAATTATCCACCTCAAGTTATGGGAAAAGCTACCCATTTTTCTGCTGTTCTAAGCAACAGGTGATTAGATAGGCAGTACTCACATCAAGAGAG... |
Task1_train_3838 | Here is a genetic alteration in SNRNP200 (small nuclear ribonucleoprotein U5 subunit 200) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinitis pigmentosa | GTGCAGACTTGTATTAAACAACCTTAAAGTTACTAGAAAAGGTAAAACAGAGCCTATCCGGAAAGAGGGAACGACAAGGGCACGCGTGCCCCCATGAGACACTGTTTGGAGCTATCTGAAGTCACCAAAGTGCTTGCTTCACTATGCTTCTCAGACTATCCTAAACTCAAGCAAGGTGGGAAGAGTTGGGAGAGTAGCATAAGGTTCTATTTATTGTGTCCACCACAACCCTCTGACCTGGGCTAGCTGGGCCAGAAGCAATAAAGTACCAGGAGCAAACATGGCACAAACTTGACATTGCCCATCTTCTGAAGTATGTC... | GTGCAGACTTGTATTAAACAACCTTAAAGTTACTAGAAAAGGTAAAACAGAGCCTATCCGGAAAGAGGGAACGACAAGGGCACGCGTGCCCCCATGAGACACTGTTTGGAGCTATCTGAAGTCACCAAAGTGCTTGCTTCACTATGCTTCTCAGACTATCCTAAACTCAAGCAAGGTGGGAAGAGTTGGGAGAGTAGCATAAGGTTCTATTTATTGTGTCCACCACAACCCTCTGACCTGGGCTAGCTGGGCCAGAAGCAATAAAGTACCAGGAGCAAACATGGCACAAACTTGACATTGCCCATCTTCTGAAGTATGTC... |
Task1_train_3839 | This alteration occurs within gene NCAPH (non-SMC condensin I complex subunit H) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Microcephaly 23, primary, autosomal recessive | CTGTCATAGAGGATTCAAACATGATTATGCTTCAGTTCTTTATACCAGGAGAATACAGGTAGATGAATGCAAGGAAGGTCAAGGCACATGCTATAGGAAACCAGAGTTGGTAGGGCTCAGAGTTTATGGAAGAAGCAAGACTTGAACTGGGCCATGAAGGAAGGCTAGGTGTCTTGTCAGGTAGGCATTGCCAGGGAGGTGATTCTAAGCAGAGGTGTAAAAGCAAAAGCCATAGCACAGGAAGGTTCTGATTAGGAAGCTGGAGAGTATACGAGTTTGGCTAGCGCCAAGGATTTGCTTTTAGAAATCACCTAAAGAGA... | CTGTCATAGAGGATTCAAACATGATTATGCTTCAGTTCTTTATACCAGGAGAATACAGGTAGATGAATGCAAGGAAGGTCAAGGCACATGCTATAGGAAACCAGAGTTGGTAGGGCTCAGAGTTTATGGAAGAAGCAAGACTTGAACTGGGCCATGAAGGAAGGCTAGGTGTCTTGTCAGGTAGGCATTGCCAGGGAGGTGATTCTAAGCAGAGGTGTAAAAGCAAAAGCCATAGCACAGGAAGGTTCTGATTAGGAAGCTGGAGAGTATACGAGTTTGGCTAGCGCCAAGGATTTGCTTTTAGAAATCACCTAAAGAGA... |
Task1_train_3840 | This variant impacts the gene LMAN2L (lectin, mannose binding 2 like) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Intellectual disability, autosomal recessive 52 | ATCCACAGAAGATAGAATACCAGGGGGATAGACAGTAAAATTAAATCAGTATGCCACTGCTGAACTTTTTAGGCCTTTCTGGGTCACCAACACAGGAGGGAGAAAGATTCTTACCACCCGGTTCCACAAGGCACCCTGTTTACTTTGCATATCTGGGGTAAGGCGGATATACTGGGTCATCACCATGGCATTGCCCATCAGATTCCACAGTGAGGAACTGCCTGTGCCCACACCTACAGGAAGGAAGTAGATCAGTTCATACTTTTCAACACCAATCCATTCAGAAAGCAGCCACCACAGAGCCTCTGAAAGCTGAGCCA... | ATCCACAGAAGATAGAATACCAGGGGGATAGACAGTAAAATTAAATCAGTATGCCACTGCTGAACTTTTTAGGCCTTTCTGGGTCACCAACACAGGAGGGAGAAAGATTCTTACCACCCGGTTCCACAAGGCACCCTGTTTACTTTGCATATCTGGGGTAAGGCGGATATACTGGGTCATCACCATGGCATTGCCCATCAGATTCCACAGTGAGGAACTGCCTGTGCCCACACCTACAGGAAGGAAGTAGATCAGTTCATACTTTTCAACACCAATCCATTCAGAAAGCAGCCACCACAGAGCCTCTGAAAGCTGAGCCA... |
Task1_train_3841 | This variant impacts the gene CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Jalili syndrome | GAGTAAAGTGGGTTCTGTGTCTTCAGTACTGGCAAAAGATTTGCTGTGAGACCTGGTGGTCAACCCAGTACCTGATCTTCTCTGTGCACCTGTGCAATTATTGTAAGGATGTTTATCTGTCTGTCTTCTTCCCCCTCACAGGGCGGGCAGCTGTGGTCTTCCTTATACACCCTACTGACACAGGGCTAGGGCCATTCAGGAAGCAGTCATTTCAGGGATAGGCCCACTGCCGCGCCTGCCTGCTCATGTCCACAAGCAGCTGCCCAGCTGATCAATCACCACAATTTGGGGTTAGGAGTTTGGTCCTGGAAGGCAGGTAG... | GAGTAAAGTGGGTTCTGTGTCTTCAGTACTGGCAAAAGATTTGCTGTGAGACCTGGTGGTCAACCCAGTACCTGATCTTCTCTGTGCACCTGTGCAATTATTGTAAGGATGTTTATCTGTCTGTCTTCTTCCCCCTCACAGGGCGGGCAGCTGTGGTCTTCCTTATACACCCTACTGACACAGGGCTAGGGCCATTCAGGAAGCAGTCATTTCAGGGATAGGCCCACTGCCGCGCCTGCCTGCTCATGTCCACAAGCAGCTGCCCAGCTGATCAATCACCACAATTTGGGGTTAGGAGTTTGGTCCTGGAAGGCAGGTAG... |
Task1_train_3842 | This variant affects gene CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Jalili syndrome | CAATGTCTAGGTCCACAATCCCGCAAGCTTAGCGAAGTAATGCTCTGTCATTCTTACCCCCATTTACAGATGGAGAAATGGGCTGGGAGATGACAGTATGGAGGCACCAGGATTTTTGTCTCGGCTCAATTTCTGCATCTCTAAATGGAAATAATTCTACTAACTCTGAGGGTTGTTGGGGGGATTTAATGAATATATGTGTTTACTTGTTTATCTCCTGTTTTCTGTTCTAGACTGTAAACCCCAATGGGCAGCGACTTTGGCTTGTTCACTGCTCTATTGTCAGAGCCTAGAACAAGTGCCTGGTACAAAGTAGGTGT... | CAATGTCTAGGTCCACAATCCCGCAAGCTTAGCGAAGTAATGCTCTGTCATTCTTACCCCCATTTACAGATGGAGAAATGGGCTGGGAGATGACAGTATGGAGGCACCAGGATTTTTGTCTCGGCTCAATTTCTGCATCTCTAAATGGAAATAATTCTACTAACTCTGAGGGTTGTTGGGGGGATTTAATGAATATATGTGTTTACTTGTTTATCTCCTGTTTTCTGTTCTAGACTGTAAACCCCAATGGGCAGCGACTTTGGCTTGTTCACTGCTCTATTGTCAGAGCCTAGAACAAGTGCCTGGTACAAAGTAGGTGT... |
Task1_train_3843 | Gene CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Jalili syndrome | GGCAGCGACTTTGGCTTGTTCACTGCTCTATTGTCAGAGCCTAGAACAAGTGCCTGGTACAAAGTAGGTGTTCAATAAATATCTATGCCTAAATGGAAGAGACAGGAGAGAAGTCTAGGCCAGAGCCTGCCCCTTCTATAACCTTAGTTCCCCAGATTTGCCTTCCACATCAGGCAGCCACTGGTTGATGGAAGCATCGTCGGGCTGGGGCTGGGGCTGGGGTAACCTACTTCTGGCCTTAGGACAAGGTCGGCAAAAATCTCAGCAGTGAGGAGGCCAGAAAAGTCTCCAAGGGGCAGGCTGCAATGCCAGCCTAAGCC... | GGCAGCGACTTTGGCTTGTTCACTGCTCTATTGTCAGAGCCTAGAACAAGTGCCTGGTACAAAGTAGGTGTTCAATAAATATCTATGCCTAAATGGAAGAGACAGGAGAGAAGTCTAGGCCAGAGCCTGCCCCTTCTATAACCTTAGTTCCCCAGATTTGCCTTCCACATCAGGCAGCCACTGGTTGATGGAAGCATCGTCGGGCTGGGGCTGGGGCTGGGGTAACCTACTTCTGGCCTTAGGACAAGGTCGGCAAAAATCTCAGCAGTGAGGAGGCCAGAAAAGTCTCCAAGGGGCAGGCTGCAATGCCAGCCTAAGCC... |
Task1_train_3844 | This genomic variant is located on Chromosome 2, within the CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Jalili syndrome | GGCGTGTATTCTGCAAATATTCCAAAATCCAAAAAAATCTGAAATCTGAAACACTTCTGATCCCCAGTGAGGAATAAGGGATACTCAGCCTGTCAAAGCTGCCTTGCTTTAATTCCCATCCCCATGTGGTGACATGGTTTAGCTAGATGCCCAGGCCCTTCCAGGCACTGTCTTTCTGGAGGGCACTCCTGTATGGACAGCCTCCAGCAGGCACAGAGGCCTGGGGGCGGACCCCAGGGTCCCGGCCTGGCCCGCTGCCGCCCTGCTGGAGGGCCTCACAGATCTCTTGAACTTGTTGGCTCATCTCTAGGAAGATACTG... | GGCGTGTATTCTGCAAATATTCCAAAATCCAAAAAAATCTGAAATCTGAAACACTTCTGATCCCCAGTGAGGAATAAGGGATACTCAGCCTGTCAAAGCTGCCTTGCTTTAATTCCCATCCCCATGTGGTGACATGGTTTAGCTAGATGCCCAGGCCCTTCCAGGCACTGTCTTTCTGGAGGGCACTCCTGTATGGACAGCCTCCAGCAGGCACAGAGGCCTGGGGGCGGACCCCAGGGTCCCGGCCTGGCCCGCTGCCGCCCTGCTGGAGGGCCTCACAGATCTCTTGAACTTGTTGGCTCATCTCTAGGAAGATACTG... |
Task1_train_3845 | Here is a genetic alteration in CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Jalili syndrome | TTCCAAAATCCAAAAAAATCTGAAATCTGAAACACTTCTGATCCCCAGTGAGGAATAAGGGATACTCAGCCTGTCAAAGCTGCCTTGCTTTAATTCCCATCCCCATGTGGTGACATGGTTTAGCTAGATGCCCAGGCCCTTCCAGGCACTGTCTTTCTGGAGGGCACTCCTGTATGGACAGCCTCCAGCAGGCACAGAGGCCTGGGGGCGGACCCCAGGGTCCCGGCCTGGCCCGCTGCCGCCCTGCTGGAGGGCCTCACAGATCTCTTGAACTTGTTGGCTCATCTCTAGGAAGATACTGGGGTATTTTCAATCGAGTC... | TTCCAAAATCCAAAAAAATCTGAAATCTGAAACACTTCTGATCCCCAGTGAGGAATAAGGGATACTCAGCCTGTCAAAGCTGCCTTGCTTTAATTCCCATCCCCATGTGGTGACATGGTTTAGCTAGATGCCCAGGCCCTTCCAGGCACTGTCTTTCTGGAGGGCACTCCTGTATGGACAGCCTCCAGCAGGCACAGAGGCCTGGGGGCGGACCCCAGGGTCCCGGCCTGGCCCGCTGCCGCCCTGCTGGAGGGCCTCACAGATCTCTTGAACTTGTTGGCTCATCTCTAGGAAGATACTGGGGTATTTTCAATCGAGTC... |
Task1_train_3846 | Located on Chromosome 2, this mutation impacts ZAP70 (zeta chain of T cell receptor associated protein kinase 70). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Combined immunodeficiency | GGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTGCTGGTCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGATGACAGGCATGAGCCGTTGCACTCGGCCTCACATATTTTGAATGTTTGTGCTTTTTGTTGGTGATTTCAGTGGTTGACATGGCCCCCAACCATAGTGCTGAAATGCTATCTAGCATTCCTAAGGGCAAGAATGCTGTATGTGCCTTATGGAGAAAACATGTCAGATAAGCTTATAGTTATAGTGCTGTTGGCTAAGAGTTCAATGTTAGTGAATCAACCATGTCTATTAAATAAGGTG... | GGGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTGCTGGTCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGATGACAGGCATGAGCCGTTGCACTCGGCCTCACATATTTTGAATGTTTGTGCTTTTTGTTGGTGATTTCAGTGGTTGACATGGCCCCCAACCATAGTGCTGAAATGCTATCTAGCATTCCTAAGGGCAAGAATGCTGTATGTGCCTTATGGAGAAAACATGTCAGATAAGCTTATAGTTATAGTGCTGTTGGCTAAGAGTTCAATGTTAGTGAATCAACCATGTCTATTAAATAAGGTG... |
Task1_train_3847 | This mutation is located in gene ZAP70 (zeta chain of T cell receptor associated protein kinase 70) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Combined immunodeficiency | TCCTGGGAACACAGCCATGGCCCCTCCACCGCCCTCTGCCACTTGGCCCATCATCAGCAGATCTGGAGGTGATGGGGGCCTGGCCTGGCTTCCCCAGTCCCTGCAGCTTCTCTGCAAGGCTCTGAGGTGTGGAGCCCATAGGGTGTGTTGCGGGGGAACCGGGGCACAGCAGGAGGCCCCCAGGTGGCTCTAGGGGTTACATCCCCTCCCTTCCCCTGCCAGGCTGAGGCCGCGGAAGGAGCAGGGCACATACGCCCTGTCCCTCATCTATGGGAAGACGGTGTACCACTACCTCATCAGCCAAGACAAGGCGGGCAAGT... | TCCTGGGAACACAGCCATGGCCCCTCCACCGCCCTCTGCCACTTGGCCCATCATCAGCAGATCTGGAGGTGATGGGGGCCTGGCCTGGCTTCCCCAGTCCCTGCAGCTTCTCTGCAAGGCTCTGAGGTGTGGAGCCCATAGGGTGTGTTGCGGGGGAACCGGGGCACAGCAGGAGGCCCCCAGGTGGCTCTAGGGGTTACATCCCCTCCCTTCCCCTGCCAGGCTGAGGCCGCGGAAGGAGCAGGGCACATACGCCCTGTCCCTCATCTATGGGAAGACGGTGTACCACTACCTCATCAGCCAAGACAAGGCGGGCAAGT... |
Task1_train_3848 | A variant found in Chromosome 2 affects ZAP70 (zeta chain of T cell receptor associated protein kinase 70). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Combined immunodeficiency due to ZAP70 deficiency | AAGGCGGGTGGATCATGAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAACCCCGTCCTTACTAAAAATACAAAAGATTAGCTGGGCGTGGTGGTGGGCGCCTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGGACAGAGCGAAACTCCATCTCAAAAAAATAAATAAATAAAAATAAATAAAGGGCACTGCTAGTAAGAGCTTTGTACACATCAGCTGCTCCCCAGACTCCCTGGGCCAAATTCAT... | AAGGCGGGTGGATCATGAGGTCAAGAGATCCAGACCATCCTGGCCAACATGGTGAAACCCCGTCCTTACTAAAAATACAAAAGATTAGCTGGGCGTGGTGGTGGGCGCCTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCACGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGGACAGAGCGAAACTCCATCTCAAAAAAATAAATAAATAAAAATAAATAAAGGGCACTGCTAGTAAGAGCTTTGTACACATCAGCTGCTCCCCAGACTCCCTGGGCCAAATTCAT... |
Task1_train_3849 | A variant found in Chromosome 2 affects VWA3B (von Willebrand factor A domain containing 3B). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Spinocerebellar ataxia, autosomal recessive 22 | CTCTTGAGGACTTCCGAATTCAACACCTGCAAAAAGACTGCCCTTTCGACACACGTGGTCTATTTTTTTTTCATTATTCCTTGGATTCTCTCAAAAAGGCAAATTGATATTTGATATTCATGTTCTATGTAGAAGATATGGAGATGTACCACTCAATTTCCATTTTTTGCTTTTGAATTTTCACTGGCTTTATAGGAACTGAATGTGTAAGGCCCGTGTTATTATTCCAAATATTCAGCAGAATTTTCTTTGTGGAAGAATAGACACAGATGCTGTTCTGGATCAGTTACATGGACACTAGCTTCCTGCCTGATTATTAA... | CTCTTGAGGACTTCCGAATTCAACACCTGCAAAAAGACTGCCCTTTCGACACACGTGGTCTATTTTTTTTTCATTATTCCTTGGATTCTCTCAAAAAGGCAAATTGATATTTGATATTCATGTTCTATGTAGAAGATATGGAGATGTACCACTCAATTTCCATTTTTTGCTTTTGAATTTTCACTGGCTTTATAGGAACTGAATGTGTAAGGCCCGTGTTATTATTCCAAATATTCAGCAGAATTTTCTTTGTGGAAGAATAGACACAGATGCTGTTCTGGATCAGTTACATGGACACTAGCTTCCTGCCTGATTATTAA... |
Task1_train_3850 | A sequence alteration has been identified in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Retinal dystrophy | TCGCAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTG... | TCGCAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTG... |
Task1_train_3851 | This genomic variant is located on Chromosome 2, within the CNGA3 (cyclic nucleotide gated channel subunit alpha 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Achromatopsia 2 | TCGCAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTG... | TCGCAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTG... |
Task1_train_3852 | This is a variant in CNGA3 (cyclic nucleotide gated channel subunit alpha 3), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Retinal dystrophy | CAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTT... | CAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTT... |
Task1_train_3853 | Consider a variant on Chromosome 2 in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Determine its clinical classification and disease relevance. | Pathogenic; Achromatopsia 2 | CAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTT... | CAGCCCAGCAAAGTCCGAAGGCGTGTCTGAACTCGGCCACATTTGCGAACCTGCGACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTT... |
Task1_train_3854 | Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Retinal dystrophy | GACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTG... | GACCACACGTATTTGCCACTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTG... |
Task1_train_3855 | Here is a variant affecting CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Achromatopsia 2 | CTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAAT... | CTACATGCGTCACAGACCCGCCTCTTCGAATGTTGCTTCCCTTCTGCTCACTGGCTTTCTCATTAAGGCCCAGGTTTTCACTTGATCCAGAGAGAGGTTTCAAGAACAGCGGACAGGCCACACCCTTCCATTCAGAACGGAGAGCCTGGCGTGGGATTTCCAAAACTCCGAGTAACTTTCCCAACTTCAATGTGTGGATTTGGGTCTATGTCGTACTACCTCAAAACGTCTCCAGTCTCTGGCTGTTTGTGACTTCCCAGGAGCTCATGAAAATAGATCAGAAATTGTAGAACATTAGACTGAGCCACTAATTTCTCAAT... |
Task1_train_3856 | This sequence variant lies in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Achromatopsia 2 | CACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTT... | CACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTT... |
Task1_train_3857 | The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinal dystrophy | CACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTT... | CACCAGGCCCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTT... |
Task1_train_3858 | A sequence alteration has been identified in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; CNGA3-related retinopathy | CCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTT... | CCAGGAGCCAGAGCTCCACCTCTCCCTCGGGAGGCCTGAGGCCTGGACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTT... |
Task1_train_3859 | This mutation occurs in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cone dystrophy | GACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGT... | GACCCCTCACGGCCACCACTTAGTTATTGTGCCTCGGTTTCTCCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGT... |
Task1_train_3860 | The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Achromatopsia | CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAA... | CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAA... |
Task1_train_3861 | Consider a variant on Chromosome 2 in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Determine its clinical classification and disease relevance. | Pathogenic; Achromatopsia 2 | CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAA... | CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAA... |
Task1_train_3862 | Located on Chromosome 2, this mutation impacts CNGA3 (cyclic nucleotide gated channel subunit alpha 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinal dystrophy | CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAA... | CCTTTTAAAAATAGAAGGTTCCCCAAGAGGACCATCAGAGTGCTCTGAAGCATGGGTGGGGAATTGAGCTTCAGGTGGACAGCCAGGGTTTCGGCACTGTGGGGCCCCCTCAAGTGAGTTGTACGAGGAGGATGCAGGGGCGGTTGCTTCTCTTTGGAGGGATAAGTGGGTGGTTCTGAACATGCAGCAGGGTAGGGAGGCAGGGGCAAGCTGCTACTATTTTTTTCTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTTCAGTGGCGCGATCTCAGCTAACTGCAACCTCCACCTCCCGGGTTAA... |
Task1_train_3863 | Given a variant located on Chromosome 2 and affecting CNGA3 (cyclic nucleotide gated channel subunit alpha 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Achromatopsia | GACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCT... | GACATCTTAAAGAAGTGGGGAGGAGGCTGGAGGCACAGGAGGCTACATAATGATCAAGGCCCTCAGTAACGCATGTATAACAAATAATGCTAAGAAGAACTGGGGGCTGTGAAGTGGGGTGTTCTTTGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCT... |
Task1_train_3864 | This genomic variant is located on Chromosome 2, within the CNGA3 (cyclic nucleotide gated channel subunit alpha 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Achromatopsia 2 | TGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCT... | TGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCT... |
Task1_train_3865 | Here’s a variant in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Retinal dystrophy | TGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCT... | TGTTGTGACAGCACACTAGATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCT... |
Task1_train_3866 | Consider this mutation in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Retinal dystrophy | GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCC... | GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCC... |
Task1_train_3867 | This sequence change occurs on Chromosome 2, altering CNGA3 (cyclic nucleotide gated channel subunit alpha 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Achromatopsia 2 | GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCC... | GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCC... |
Task1_train_3868 | A change on Chromosome 2 affects gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCC... | GATTTTCAGTTTGAGCAGAGTGAGACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCC... |
Task1_train_3869 | The following genetic variant occurs in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinal dystrophy | ACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTT... | ACGTCCTACCCCAGTCTAGCCTCGGTGGCCTGGACCCGCAGCCCTAGCATCACCTGGAACTTGCTAGACTTGCCCCCAACTTCCGGGAGCCAACTCTGGGTTGCAGGCTGGCACTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTT... |
Task1_train_3870 | This mutation is located in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Achromatopsia 2 | CTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCA... | CTCTGTGTTTCGCACAGCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCA... |
Task1_train_3871 | This sequence variant lies in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAA... | GCCCTCAGGGAAATTCTGATGCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAA... |
Task1_train_3872 | Given this variant in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Retinal dystrophy | GCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGC... | GCTCACCGCAATTTTAAAAGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGC... |
Task1_train_3873 | A change on Chromosome 2 affects gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | AGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTT... | AGGACTAATTATATTATTCTCTCTACTTTCGTGCATGTTTGAAAATGTAAAAAACAAAAAAGAATGCAGGTCATGGCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTT... |
Task1_train_3874 | This sequence change occurs on Chromosome 2, altering CNGA3 (cyclic nucleotide gated channel subunit alpha 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Achromatopsia 2 | GCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCT... | GCCTCCTTAATTGATTTCACCCATCATAATGCCCCTGGCTCTAGGTGTCCAGCCCATCTCCAGACCAGTCAGATTCTTTGGGGGTGGGTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCT... |
Task1_train_3875 | This variant affects the gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Achromatopsia 2 | GTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTT... | GTCCCGAACTTCATATATTTTAAAAGCCCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTT... |
Task1_train_3876 | Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Retinal dystrophy | CCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCAC... | CCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCAC... |
Task1_train_3877 | An alteration has been detected in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Achromatopsia 2 | CCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCAC... | CCTTTGGGTAACAGTCACGTGCAACCAAGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCAC... |
Task1_train_3878 | This genomic variant is located on Chromosome 2, within the CNGA3 (cyclic nucleotide gated channel subunit alpha 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Achromatopsia | AGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACC... | AGGAAAGCTGTGTTCCTGGAAGGTGTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACC... |
Task1_train_3879 | Given a variant located on Chromosome 2 and affecting CNGA3 (cyclic nucleotide gated channel subunit alpha 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Retinal dystrophy | GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATT... | GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATT... |
Task1_train_3880 | Chromosome 2 houses a mutation in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Achromatopsia | GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATT... | GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATT... |
Task1_train_3881 | An alteration has been detected in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Abnormality of the eye | GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATT... | GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATT... |
Task1_train_3882 | Here is a mutation in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Achromatopsia 2 | GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATT... | GTTTTCAAAAGGCAGGTTGTGCCCCATTGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATT... |
Task1_train_3883 | Mutation context: Chromosome 2, Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Achromatopsia 2 | TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGA... | TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGA... |
Task1_train_3884 | Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Achromatopsia | TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGA... | TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGA... |
Task1_train_3885 | The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinal dystrophy | TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGA... | TGCTGACTGGTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGA... |
Task1_train_3886 | The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Achromatopsia 3 | GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACT... | GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACT... |
Task1_train_3887 | This sequence change occurs on Chromosome 2, altering CNGA3 (cyclic nucleotide gated channel subunit alpha 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinal dystrophy | GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACT... | GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACT... |
Task1_train_3888 | This mutation occurs in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Achromatopsia 2 | GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACT... | GTGAAATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACT... |
Task1_train_3889 | A genetic alteration is present in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACT... | AATCAATTTGGGAGGCCATGGCCTGTGTTTTTTACATTTTTATTATTAATATTTTCAAATGTATGCAAAAGCAGAGAGAATAGTGTTATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACT... |
Task1_train_3890 | The following genetic variant occurs in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | TATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGC... | TATGAATCCCCATGTACCCTCACCCAGCTCCAGCTGTTATCAGCATTCTGCCCATCTTGTTTCATCTGTTCCTTTTCTTGTTTCATCCGCCCTTTTCTTGTTTGATTTTCCTGTTTTTGTTTTTGCTCTTTTGTTTCATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGC... |
Task1_train_3891 | Here’s a variant in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | CATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTT... | CATCCACCCTTTTCTTGGCTGGCATAAGCAAACCCCAGGCAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTT... |
Task1_train_3892 | Given this variant in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCT... | CAGTAAGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCT... |
Task1_train_3893 | The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Retinal dystrophy | AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTC... | AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTC... |
Task1_train_3894 | This variant impacts the gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Achromatopsia 3 | AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTC... | AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTC... |
Task1_train_3895 | A variant was discovered in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Achromatopsia 2 | AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTC... | AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTC... |
Task1_train_3896 | This is a variant in CNGA3 (cyclic nucleotide gated channel subunit alpha 3), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; CNGA3-related retinopathy | AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTC... | AGCACTTTAGCATTTTGAATAGAAAATAGAATGTCTCAGGAAGTCAAACTCACTCTGCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTC... |
Task1_train_3897 | Here’s a variant in CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGAT... | GCCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGAT... |
Task1_train_3898 | The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Achromatopsia 2 | CCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATC... | CCAAAGGGAAGAGTTAGGCTTGGGAACTGAGTCATGCAAAAGCTGCCTTCCTTTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATC... |
Task1_train_3899 | A change on Chromosome 2 affects gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Retinal dystrophy | TTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAA... | TTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAA... |
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