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_300 | A variant has been detected on Chromosome 1 in MFN2 (mitofusin 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Charcot-Marie-Tooth disease | GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAG... | GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAG... |
Task1_train_301 | A variant was discovered in gene MFN2 (mitofusin 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAG... | GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAG... |
Task1_train_302 | A mutation in MFN2 (mitofusin 2), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neuropathy, hereditary motor and sensory, type 6A | GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAG... | GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAG... |
Task1_train_303 | Gene MFN2 (mitofusin 2) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Peripheral neuropathy | GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAG... | GAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAG... |
Task1_train_304 | This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Severe early-onset axonal neuropathy due to MFN2 deficiency | GCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTC... | GCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTC... |
Task1_train_305 | This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Charcot-Marie-Tooth disease type 2 | AGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCA... | AGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCA... |
Task1_train_306 | This variant affects gene MFN2 (mitofusin 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Charcot-Marie-Tooth disease type 2 | AGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGC... | AGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGC... |
Task1_train_307 | The following genetic variant occurs in MFN2 (mitofusin 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCA... | GTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCA... |
Task1_train_308 | Located on Chromosome 1, this mutation impacts MFN2 (mitofusin 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Charcot-Marie-Tooth disease type 2 | TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCC... | TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCC... |
Task1_train_309 | This gene mutation involves MFN2 (mitofusin 2) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCC... | TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCC... |
Task1_train_310 | Here’s a variant in MFN2 (mitofusin 2) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hereditary motor and sensory neuropathy with optic atrophy | TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCC... | TACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCC... |
Task1_train_311 | This variant impacts the gene MFN2 (mitofusin 2) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Charcot-Marie-Tooth disease type 2 | ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCT... | ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCT... |
Task1_train_312 | This alteration occurs within gene MFN2 (mitofusin 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCT... | ACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCT... |
Task1_train_313 | The gene MFN2 (mitofusin 2) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCC... | GCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCC... |
Task1_train_314 | Consider a variant on Chromosome 1 in gene MFN2 (mitofusin 2). Determine its clinical classification and disease relevance. | Pathogenic; Charcot-Marie-Tooth disease type 2 | GGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCC... | GGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCC... |
Task1_train_315 | This sequence variant lies in MFN2 (mitofusin 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTG... | GCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTG... |
Task1_train_316 | Here is a genetic alteration in MFN2 (mitofusin 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease type 2 | ATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATG... | ATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATG... |
Task1_train_317 | Gene MFN2 (mitofusin 2) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | ATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATG... | ATGAATATCCTCGCTTCCTTTTTTTTATTGTGTGTGGCAGACCCTTTGCTCTAGACATTTTGCACCTAATTATTTCTCTGACTCTTGGAGGTAGATGTTGTCTTATAGCCATCTCCTTTTTCTTTCTTTCTTTTTTTTTTAATTGATCATTCTTGGGTGTTTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGGGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTGACAAGCATG... |
Task1_train_318 | Gene MFN2 (mitofusin 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Charcot-Marie-Tooth disease type 2 | AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCA... | AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCA... |
Task1_train_319 | Here is a genetic alteration in MFN2 (mitofusin 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Charcot-Marie-Tooth disease type 2A2 | AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCA... | AACCAGGCCTGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCA... |
Task1_train_320 | This alteration occurs within gene MFN2 (mitofusin 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease type 2 | TGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTG... | TGGCTCAGGGCAGAGCTGCTGGCAGGGATATAGACAGGCCCAGCTGCTCCCTACTGTGGGTGGGCTAAGCCACCAGTGGCATCTTGCTCCACACACCCCAACTGGGTCCCTTCTCTCTCCTCCCCAGGGAACTGTCTGGGACCTTTGCTCATCTGTGTCAGCAAGTTGACGTCACCCGGGAGAACCTGGAGCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTGACTCACTTCAGAGCAAAGCAAAGCTGCTCAGGTGAGGCTGGCCCGTGTGGCCAAAGGTTAGGGCTCCAGGGTGCAGCCCAGGCACACTG... |
Task1_train_321 | A variant affecting Chromosome 1, within the gene VPS13D (vacuolar protein sorting 13 homolog D), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | ATATTCCCTGGGTAGAGGCAGCCCCTATCTGTTGTGTGAGAATTGGAAGCCAGTTTGGAGGAGGAGGAGGATGATTTGTGTAATTTTTGTTAATCCTTTTAAAATGGTTTTAACGGGCAGTCCTAAACTACTGCGAACAGACCTATGCCATCTATTTCATTTACTTTCCTCACCTTTTCATTTGGAAACAATTTAAACTATAGGAAAGTTACAAAAGTAGTAAATGAATATCCCTATATCTTGTACCTAGATTTAACCAGTTTTCAGCATCTTGCTACATGTTGCTTCTCTCTTCACATACATGAACACACATTTTCCTT... | ATATTCCCTGGGTAGAGGCAGCCCCTATCTGTTGTGTGAGAATTGGAAGCCAGTTTGGAGGAGGAGGAGGATGATTTGTGTAATTTTTGTTAATCCTTTTAAAATGGTTTTAACGGGCAGTCCTAAACTACTGCGAACAGACCTATGCCATCTATTTCATTTACTTTCCTCACCTTTTCATTTGGAAACAATTTAAACTATAGGAAAGTTACAAAAGTAGTAAATGAATATCCCTATATCTTGTACCTAGATTTAACCAGTTTTCAGCATCTTGCTACATGTTGCTTCTCTCTTCACATACATGAACACACATTTTCCTT... |
Task1_train_322 | A mutation found in CELA2A (chymotrypsin like elastase 2A) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Abdominal obesity-metabolic syndrome 4 | CCGGGCGCATTTGTGCTAAGAACTAATCATTGCTGCCTACAAAAATACTTCCTCACCCTCTTGCACAAAAGTATTCTTGCCTTGAGAACCAGTGAATGTTAATCCATGAAGAGTCCCTATGCTTTGTGCTTCTGTTTCCCTGCGGAAATAAGGCAGATCTAGCTGGGTGGGGACTCAGATGAGGCAAGTAAGACATTCACTCTGGAGGCAAAATGTAAGGGGGTAGCACAAAACTCAGCAACCAGCCAGGAACAGTGGCACACACCTTTAATCCCAGCTATTCAAGGGGCTGAGGCAGGAGGATTGCTTGAGCCCAAGAG... | CCGGGCGCATTTGTGCTAAGAACTAATCATTGCTGCCTACAAAAATACTTCCTCACCCTCTTGCACAAAAGTATTCTTGCCTTGAGAACCAGTGAATGTTAATCCATGAAGAGTCCCTATGCTTTGTGCTTCTGTTTCCCTGCGGAAATAAGGCAGATCTAGCTGGGTGGGGACTCAGATGAGGCAAGTAAGACATTCACTCTGGAGGCAAAATGTAAGGGGGTAGCACAAAACTCAGCAACCAGCCAGGAACAGTGGCACACACCTTTAATCCCAGCTATTCAAGGGGCTGAGGCAGGAGGATTGCTTGAGCCCAAGAG... |
Task1_train_323 | A change on Chromosome 1 affects gene CELA2A (chymotrypsin like elastase 2A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Coronary artery disorder | TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACG... | TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACG... |
Task1_train_324 | This genomic variant is located on Chromosome 1, within the CELA2A (chymotrypsin like elastase 2A) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Diabetes | TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACG... | TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACG... |
Task1_train_325 | A variant found in Chromosome 1 affects CELA2A (chymotrypsin like elastase 2A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypertensive disorder | TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACG... | TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACG... |
Task1_train_326 | Gene CELA2A (chymotrypsin like elastase 2A) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypertriglyceridemia | TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACG... | TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACG... |
Task1_train_327 | The gene CELA2A (chymotrypsin like elastase 2A) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Abdominal obesity-metabolic syndrome 4 | TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACG... | TTTTTTGGTAGGGTCAAGTTCTCACTATGGTGCCCAGGCTGGTTCACAAACTCCTGGGTTCAAGCAATACTCCCACCTCAGCCTTCTGAGTAACCGGGACTATAGGCATGCACCGCCGCACCCAGCGGCTCATTTTGGGCTATTTTTGTTGTAGAGACAATGTATTTAGTCCTGCCTCACACGGCTAATAAAGACATATCTGAGACTGGGTAATTTATAAAGGAAAGAGGTTTAACTGACTCATAGCTCAGCGTGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCAGAAGGGAAAGGAAACACATCCTTGTTCACG... |
Task1_train_328 | The gene CELA2A (chymotrypsin like elastase 2A) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Coronary artery disorder | ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTA... | ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTA... |
Task1_train_329 | Assess the clinical impact of this variant on gene CELA2A (chymotrypsin like elastase 2A), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Diabetes | ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTA... | ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTA... |
Task1_train_330 | This alteration occurs within gene CELA2A (chymotrypsin like elastase 2A) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypertensive disorder | ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTA... | ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTA... |
Task1_train_331 | This variant affects gene CELA2A (chymotrypsin like elastase 2A) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Hypertriglyceridemia | ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTA... | ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTA... |
Task1_train_332 | A genetic alteration is present in CELA2A (chymotrypsin like elastase 2A) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Abdominal obesity-metabolic syndrome 4 | ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTA... | ATGAGCCACCATGCCTGGCCTGATTGTTTTTCATGTAGATTGCATTAACACGTTTTTTATCTTGATGGCTGAGGTTTTGGGTGCTGCCTTAAGTTGTGCACATGAGGCGACTGCCTCACTCCCCCTTACCCTTGTCCCAGCCCCGTTCTTGGGAAACTGGAGTGCAGGGAGGCCCTGCTCTTTCAAACCTAGCCACAGAGCTCCTTTGCTTCTCCCCAGGTCTCCCTGCAGTACAGCTCCAATGGCAAGTGGTACCACACCTGCGGAGGGTCCCTGATAGCCAACAGCTGGGTCCTGACGGCTGCCCACTGCATCAGGTA... |
Task1_train_333 | This gene mutation involves SPEN (spen family transcriptional repressor) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Myoepithelial tumor | AAAAAATCAAACTGGACAGACTTAATACTGTTGCCAGCCCCAAAGACTGTCAGGAGCTTGCCAGTATTTCTGTTGGGTCTGGCTCAAGGCCCAGCTCAGACCTACAAGCAAGACTGGGAGAACTAGCAGGTGAATCTGTGGAAAATCAAGAAGTCCAATCAAAAAAGCCCATTCCCTCAAAACCACAGCTCAAACAGCTGCAGGTATTAGATGATCAAGGACCAGAGAGAGAAGACGTTAGGAAAAACTATTGCAGTCTTCGTGATGAAACACCTGAACGTAAATCAGGCCAAGAGAAATCACATTCAGTAAATACTGAA... | AAAAAATCAAACTGGACAGACTTAATACTGTTGCCAGCCCCAAAGACTGTCAGGAGCTTGCCAGTATTTCTGTTGGGTCTGGCTCAAGGCCCAGCTCAGACCTACAAGCAAGACTGGGAGAACTAGCAGGTGAATCTGTGGAAAATCAAGAAGTCCAATCAAAAAAGCCCATTCCCTCAAAACCACAGCTCAAACAGCTGCAGGTATTAGATGATCAAGGACCAGAGAGAGAAGACGTTAGGAAAAACTATTGCAGTCTTCGTGATGAAACACCTGAACGTAAATCAGGCCAAGAGAAATCACATTCAGTAAATACTGAA... |
Task1_train_334 | Gene CLCNKA, LOC106501712 (chloride voltage-gated channel Ka| CLCNKA recombination region) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Bartter disease type 4B | AGCCAGGTCCTCTTCCCTACCCGCGGGGGACCACTCAGGACATCATTCCTGCCTGGCTCCCACCCCACCTCTCTGCCCAGGAACCACCCTCCTGTCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCAGGCATCTGCCCTCTGCCTTTCAGGAGATACAGCCCAAGGCCTGGTCACTGTGCCTATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGGC... | AGCCAGGTCCTCTTCCCTACCCGCGGGGGACCACTCAGGACATCATTCCTGCCTGGCTCCCACCCCACCTCTCTGCCCAGGAACCACCCTCCTGTCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCAGGCATCTGCCCTCTGCCTTTCAGGAGATACAGCCCAAGGCCTGGTCACTGTGCCTATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGGC... |
Task1_train_335 | This sequence variant lies in CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Bartter disease type 3 | GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCA... | GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCA... |
Task1_train_336 | The gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Bartter disease type 4B | GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCA... | GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCA... |
Task1_train_337 | A mutation in CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Bartter disease type 3 | GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCA... | GAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCA... |
Task1_train_338 | Mutation context: Chromosome 1, Gene LOC106501713, CLCNKB (CLCNKB recombination region| chloride voltage-gated channel Kb). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTT... | TCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTT... |
Task1_train_339 | This alteration occurs within gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Bartter disease type 3 | CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTC... | CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTC... |
Task1_train_340 | This variant affects the gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Bartter disease type 4B | CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTC... | CTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTC... |
Task1_train_341 | The gene LOC106501713, CLCNKB (CLCNKB recombination region| chloride voltage-gated channel Kb) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Bartter disease type 3 | AGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTC... | AGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTC... |
Task1_train_342 | Consider this mutation in CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Bartter disease type 3 | GCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAA... | GCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAA... |
Task1_train_343 | A change on Chromosome 1 affects gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Bartter disease type 4B | GCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAA... | GCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAA... |
Task1_train_344 | A variant was discovered in gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bartter disease type 3 | TGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGG... | TGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGG... |
Task1_train_345 | The gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Bartter disease type 3 | GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGC... | GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGC... |
Task1_train_346 | A sequence alteration has been identified in CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Bartter disease type 3 | GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGC... | GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGC... |
Task1_train_347 | A variant was discovered in gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bartter disease type 4B | GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGC... | GCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGC... |
Task1_train_348 | The variant affects gene CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Bartter syndrome | GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTA... | GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTA... |
Task1_train_349 | This genomic variant is located on Chromosome 1, within the CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Bartter disease type 3 | GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTA... | GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTA... |
Task1_train_350 | An alteration has been detected in CLCNKB, LOC106501713 (chloride voltage-gated channel Kb| CLCNKB recombination region) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Bartter disease type 4B | GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTA... | GAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTA... |
Task1_train_351 | This alteration occurs within gene EPHA2 (EPH receptor A2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Cataract 6 multiple types | CATCTCTGCTCCCTGGTTACGTTCCTGGTGACCTGTGTTTGACACCTTCCTAACCCCCACTATGAACGACCTCTGACATGCAGGGCTGCAACCCGGTAGAGTGGAGAAGGCTCAGGTTTGAAATTAGAACTCTGGTGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCAGAGGTGGGCAGATCACAAGGTCAAGTGATCAACACCATCTTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGTGCGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGA... | CATCTCTGCTCCCTGGTTACGTTCCTGGTGACCTGTGTTTGACACCTTCCTAACCCCCACTATGAACGACCTCTGACATGCAGGGCTGCAACCCGGTAGAGTGGAGAAGGCTCAGGTTTGAAATTAGAACTCTGGTGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCAGAGGTGGGCAGATCACAAGGTCAAGTGATCAACACCATCTTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGTGCGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGA... |
Task1_train_352 | With a mutation on Chromosome 1 in gene EPHA2 (EPH receptor A2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cataract 6 multiple types | CTAGTCTAGCTAGAAACCCAACTGACTCCAAAATAGCACAAATGGAGAAGAGACAGTGGCTGTGGGACCCCAGGGGACCAGGCAGCTGGTCCCCTGGGAGGGAGTCAAGAAGGCAGGAGGCTGAGAAGGGGAGGAGGTGGGACACTGAAGCCTAAATCCTGATCCCATTGGGAAAGGCACGCATTCCCCTGCTACCAGCTCCAAGTCTCCCGTTGGGACCCATGGCGTGTGTAGACCCAGGCTTCAGGTTTTAAAAAGTCCTTTGAGATCCCCATTTATTTGGAAAGAGGCAGAGGGGAAGGAGGAGGCATGCAGGCCCC... | CTAGTCTAGCTAGAAACCCAACTGACTCCAAAATAGCACAAATGGAGAAGAGACAGTGGCTGTGGGACCCCAGGGGACCAGGCAGCTGGTCCCCTGGGAGGGAGTCAAGAAGGCAGGAGGCTGAGAAGGGGAGGAGGTGGGACACTGAAGCCTAAATCCTGATCCCATTGGGAAAGGCACGCATTCCCCTGCTACCAGCTCCAAGTCTCCCGTTGGGACCCATGGCGTGTGTAGACCCAGGCTTCAGGTTTTAAAAAGTCCTTTGAGATCCCCATTTATTTGGAAAGAGGCAGAGGGGAAGGAGGAGGCATGCAGGCCCC... |
Task1_train_353 | A variant was discovered on Chromosome 1, affecting ATP13A2 (ATPase cation transporting 13A2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Kufor-Rakeb syndrome | TCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTC... | TCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTC... |
Task1_train_354 | This alteration in ATP13A2 (ATPase cation transporting 13A2) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Kufor-Rakeb syndrome | GCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCG... | GCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCG... |
Task1_train_355 | This sequence variant lies in ATP13A2 (ATPase cation transporting 13A2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive spastic paraplegia type 78 | AACTGGCGTTGTCTGCGGCTTCAGTAGGTTCCTCATGACCAGCAGCCCCAGGAGGCTCAGGTCTCCTTCCACAGTGTCCCTGGAGGGTGGGCAGACCTGGATCAGAGGTCATGCAGTGGCCAGGGCCCCTCTCCCAGCCACCAGGCAGGGCATCTTCCTTGGGCTCTGCCTGCGTGAGAGCCTCCCTCTGCCTAGTCCTCAGAGTGGGTGGGACAGGAGACAGGCCCACCTCGTCAGTTGCTGGGCTGCCTCCAGGCTGGGCACAGTGGGCAGTGGCTTGCTGGCCAGGGCCACGACACGGTAGCCAGCAGCTGTATAGC... | AACTGGCGTTGTCTGCGGCTTCAGTAGGTTCCTCATGACCAGCAGCCCCAGGAGGCTCAGGTCTCCTTCCACAGTGTCCCTGGAGGGTGGGCAGACCTGGATCAGAGGTCATGCAGTGGCCAGGGCCCCTCTCCCAGCCACCAGGCAGGGCATCTTCCTTGGGCTCTGCCTGCGTGAGAGCCTCCCTCTGCCTAGTCCTCAGAGTGGGTGGGACAGGAGACAGGCCCACCTCGTCAGTTGCTGGGCTGCCTCCAGGCTGGGCACAGTGGGCAGTGGCTTGCTGGCCAGGGCCACGACACGGTAGCCAGCAGCTGTATAGC... |
Task1_train_356 | This sequence change occurs on Chromosome 1, altering SDHB (succinate dehydrogenase complex iron sulfur subunit B). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Paragangliomas 4 | CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATT... | CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATT... |
Task1_train_357 | A genetic alteration is present in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Gastrointestinal stromal tumor | CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATT... | CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATT... |
Task1_train_358 | A variant affecting Chromosome 1, within the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Pheochromocytoma | CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATT... | CTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATT... |
Task1_train_359 | The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary cancer-predisposing syndrome | CACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTT... | CACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTT... |
Task1_train_360 | This variant impacts the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary pheochromocytoma-paraganglioma | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... |
Task1_train_361 | A variant was discovered in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Paragangliomas 4 | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... |
Task1_train_362 | Here is a mutation in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary cancer-predisposing syndrome | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... |
Task1_train_363 | This mutation occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Paragangliomas 4 | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... |
Task1_train_364 | This mutation is located in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Gastrointestinal stromal tumor | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... |
Task1_train_365 | Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Pheochromocytoma | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... | ACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGA... |
Task1_train_366 | Assess the clinical impact of this variant on gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Gastrointestinal stromal tumor | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... |
Task1_train_367 | Mutation context: Chromosome 1, Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Paragangliomas 4 | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... |
Task1_train_368 | Here is a mutation in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Pheochromocytoma | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... |
Task1_train_369 | This variant impacts the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Gastrointestinal stromal tumor | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... |
Task1_train_370 | Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... |
Task1_train_371 | This mutation occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Paragangliomas 4 | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... | TCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTT... |
Task1_train_372 | Here is a mutation in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Paragangliomas 4 | CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGC... | CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGC... |
Task1_train_373 | A change on Chromosome 1 affects gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pheochromocytoma | CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGC... | CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGC... |
Task1_train_374 | The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Gastrointestinal stromal tumor | CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGC... | CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGC... |
Task1_train_375 | This gene mutation involves SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Paragangliomas 4 | CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGC... | CATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGC... |
Task1_train_376 | A mutation on Chromosome 1 affecting SDHB (succinate dehydrogenase complex iron sulfur subunit B) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Gastrointestinal stromal tumor | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... |
Task1_train_377 | Assess the clinical impact of this variant on gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary pheochromocytoma-paraganglioma | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... |
Task1_train_378 | A variant affecting Chromosome 1, within the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Paragangliomas 4 | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... |
Task1_train_379 | This is a variant in SDHB (succinate dehydrogenase complex iron sulfur subunit B), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Paragangliomas 4 | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... |
Task1_train_380 | The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pheochromocytoma | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... |
Task1_train_381 | Chromosome 1 houses a mutation in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Gastrointestinal stromal tumor | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... |
Task1_train_382 | Given this context: Chromosome 1, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Carney-Stratakis syndrome | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... |
Task1_train_383 | A variant found in Chromosome 1 affects SDHB (succinate dehydrogenase complex iron sulfur subunit B). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Paragangliomas 4 | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... |
Task1_train_384 | This is a variant in SDHB (succinate dehydrogenase complex iron sulfur subunit B), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Mitochondrial complex 2 deficiency, nuclear type 4 | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... |
Task1_train_385 | This variant affects the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Gastrointestinal stromal tumor | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... |
Task1_train_386 | A change on Chromosome 1 affects gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... | GCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACG... |
Task1_train_387 | This mutation occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTT... | TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTT... |
Task1_train_388 | This sequence variant lies in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Gastrointestinal stromal tumor | TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTT... | TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTT... |
Task1_train_389 | A variant was discovered on Chromosome 1, affecting SDHB (succinate dehydrogenase complex iron sulfur subunit B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Pheochromocytoma | TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTT... | TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTT... |
Task1_train_390 | Consider a variant on Chromosome 1 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Determine its clinical classification and disease relevance. | Pathogenic; Paragangliomas 4 | TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTT... | TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTT... |
Task1_train_391 | The following genetic variant occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Paragangliomas 4 | TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTT... | TCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTT... |
Task1_train_392 | Chromosome 1 houses a mutation in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Gastrointestinal stromal tumor | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... |
Task1_train_393 | The variant affects gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Paragangliomas 4 | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... |
Task1_train_394 | This variant lies on Chromosome 1 and affects the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pheochromocytoma | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... |
Task1_train_395 | The gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Paragangliomas 4 | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... |
Task1_train_396 | Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary pheochromocytoma-paraganglioma | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... |
Task1_train_397 | A variant on Chromosome 1 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary cancer-predisposing syndrome | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... | GCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTT... |
Task1_train_398 | Assess the clinical impact of this variant on gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Gastrointestinal stromal tumor | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... |
Task1_train_399 | This mutation occurs in SDHB (succinate dehydrogenase complex iron sulfur subunit B) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Paragangliomas 4 | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... | CATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTC... |
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