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_8900 | A variant found in Chromosome 4 affects CLCN3 (chloride voltage-gated channel 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autism, susceptiblity to | TCTAAGTATGGTAGGAATATAGGGGAAGAAAGAGCTGAAGTACTTCAGGAAGAGTAGAACATGAGCTTTATTTAAAAGATTAGCAGAATTTAAGGAAAAGGTGACTTTGTTGAAGATTATAATGTGAAGACAAAGGAACGAGGATGGGAATAAATTTTGTATTCATGAGGCTTTGAAGAAATTGACTCTAGAGAGTATATTTTGGGTACTTTTGGGAAATGAAGTTGGATTAGTGAGAAGGAACAGATTATGAAAAGACAAGAAACCTGATTAATGTCAGGATGATTTTATATTTGAAGTTGGTCAGATTTATGGCAGTC... | TCTAAGTATGGTAGGAATATAGGGGAAGAAAGAGCTGAAGTACTTCAGGAAGAGTAGAACATGAGCTTTATTTAAAAGATTAGCAGAATTTAAGGAAAAGGTGACTTTGTTGAAGATTATAATGTGAAGACAAAGGAACGAGGATGGGAATAAATTTTGTATTCATGAGGCTTTGAAGAAATTGACTCTAGAGAGTATATTTTGGGTACTTTTGGGAAATGAAGTTGGATTAGTGAGAAGGAACAGATTATGAAAAGACAAGAAACCTGATTAATGTCAGGATGATTTTATATTTGAAGTTGGTCAGATTTATGGCAGTC... |
Task1_train_8901 | Consider a variant on Chromosome 4 in gene HPGD (15-hydroxyprostaglandin dehydrogenase). Determine its clinical classification and disease relevance. | Pathogenic; Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | TTAATGTACAGTGTTTAAAATGATATCAGGTAAACAGTGCTCAATAAATGATATTATATATTTGAATATTTTAAACAGATAAAAGGCAGTAATTCTACATTGCATTTCTTTATTCATGCTCTTTGGGGCAAGGAAGCACCCTCTTATGGTAAAGAATTTCTCCCAGATCGTCCTAAATTGATCCAACTCTGAGGCTTTCAGCCTTCCAAAGAATGAAATCAGTGCCTCCAGTGACATAAAGGCCAGGGGCTCCTTGTAGAATATTCATGGTACTCCAAGCTTTGCTGACCCTCTTAGCTTTATGAAAGAATACAGAGAAT... | TTAATGTACAGTGTTTAAAATGATATCAGGTAAACAGTGCTCAATAAATGATATTATATATTTGAATATTTTAAACAGATAAAAGGCAGTAATTCTACATTGCATTTCTTTATTCATGCTCTTTGGGGCAAGGAAGCACCCTCTTATGGTAAAGAATTTCTCCCAGATCGTCCTAAATTGATCCAACTCTGAGGCTTTCAGCCTTCCAAAGAATGAAATCAGTGCCTCCAGTGACATAAAGGCCAGGGGCTCCTTGTAGAATATTCATGGTACTCCAAGCTTTGCTGACCCTCTTAGCTTTATGAAAGAATACAGAGAAT... |
Task1_train_8902 | Gene HPGD (15-hydroxyprostaglandin dehydrogenase) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 | TCTCCAAGAAACTTTTCATCTCATATTTTTATAATTTCCACACTGTCTAAACAATTTTAAAAGTTATAGGCAACATTAAATCCTGAAACTGGAAGAATCAATGTCATGTTTCCTTTAGATGCAAGCAAATGCTCATGTCCAGACAACATGTGGATTTCTCATGACCAACATGCCTTCCCGGGTCACTTATGTGTCTGAGTATTTTTCCTCCTCCACAATCATTTATCCTTAAGGAATGAGTTTATAGCCAAGGTATTAATTTTAAATACTGGGAAAAAAACAATTGTAGTTAAATGTCATTTATGAAACTATATAAATTG... | TCTCCAAGAAACTTTTCATCTCATATTTTTATAATTTCCACACTGTCTAAACAATTTTAAAAGTTATAGGCAACATTAAATCCTGAAACTGGAAGAATCAATGTCATGTTTCCTTTAGATGCAAGCAAATGCTCATGTCCAGACAACATGTGGATTTCTCATGACCAACATGCCTTCCCGGGTCACTTATGTGTCTGAGTATTTTTCCTCCTCCACAATCATTTATCCTTAAGGAATGAGTTTATAGCCAAGGTATTAATTTTAAATACTGGGAAAAAAACAATTGTAGTTAAATGTCATTTATGAAACTATATAAATTG... |
Task1_train_8903 | A variant was discovered in gene HPGD (15-hydroxyprostaglandin dehydrogenase), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | ATTTCCACACTGTCTAAACAATTTTAAAAGTTATAGGCAACATTAAATCCTGAAACTGGAAGAATCAATGTCATGTTTCCTTTAGATGCAAGCAAATGCTCATGTCCAGACAACATGTGGATTTCTCATGACCAACATGCCTTCCCGGGTCACTTATGTGTCTGAGTATTTTTCCTCCTCCACAATCATTTATCCTTAAGGAATGAGTTTATAGCCAAGGTATTAATTTTAAATACTGGGAAAAAAACAATTGTAGTTAAATGTCATTTATGAAACTATATAAATTGAGACAGAAATGGCTTTCAGATTGTTTATACTGT... | ATTTCCACACTGTCTAAACAATTTTAAAAGTTATAGGCAACATTAAATCCTGAAACTGGAAGAATCAATGTCATGTTTCCTTTAGATGCAAGCAAATGCTCATGTCCAGACAACATGTGGATTTCTCATGACCAACATGCCTTCCCGGGTCACTTATGTGTCTGAGTATTTTTCCTCCTCCACAATCATTTATCCTTAAGGAATGAGTTTATAGCCAAGGTATTAATTTTAAATACTGGGAAAAAAACAATTGTAGTTAAATGTCATTTATGAAACTATATAAATTGAGACAGAAATGGCTTTCAGATTGTTTATACTGT... |
Task1_train_8904 | Gene AGA (aspartylglucosaminidase) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Aspartylglucosaminuria | GTTCTATCATCTTCCTTCCTCAAGTTTTTAGGGAATATTAAGTAAAACCAATAATCAGTGCTAAGACATGCATCACTGTGACATAATGAAATTCAATCAGGACTGATCATGCTGAGACTCTGCTGTTTTTTTCTTTGGGTCTAAAAAACTTGTATACTCTATTTTAAGCATCCAAATATGATGATTCCTTTTGGGTTTAATATATCACTGTGGAAATAAATCTCAAAGTAGCAATTTTTTGCAACACTGATCAGAAATCCAAGTGTCACTTAAAACTTAAATATATACAAAATACAGCCACATACATATTCATCTTCAGA... | GTTCTATCATCTTCCTTCCTCAAGTTTTTAGGGAATATTAAGTAAAACCAATAATCAGTGCTAAGACATGCATCACTGTGACATAATGAAATTCAATCAGGACTGATCATGCTGAGACTCTGCTGTTTTTTTCTTTGGGTCTAAAAAACTTGTATACTCTATTTTAAGCATCCAAATATGATGATTCCTTTTGGGTTTAATATATCACTGTGGAAATAAATCTCAAAGTAGCAATTTTTTGCAACACTGATCAGAAATCCAAGTGTCACTTAAAACTTAAATATATACAAAATACAGCCACATACATATTCATCTTCAGA... |
Task1_train_8905 | This gene mutation involves AGA (aspartylglucosaminidase) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Aspartylglucosaminuria | TCCTTCCTCAAGTTTTTAGGGAATATTAAGTAAAACCAATAATCAGTGCTAAGACATGCATCACTGTGACATAATGAAATTCAATCAGGACTGATCATGCTGAGACTCTGCTGTTTTTTTCTTTGGGTCTAAAAAACTTGTATACTCTATTTTAAGCATCCAAATATGATGATTCCTTTTGGGTTTAATATATCACTGTGGAAATAAATCTCAAAGTAGCAATTTTTTGCAACACTGATCAGAAATCCAAGTGTCACTTAAAACTTAAATATATACAAAATACAGCCACATACATATTCATCTTCAGATAATATAAGAAA... | TCCTTCCTCAAGTTTTTAGGGAATATTAAGTAAAACCAATAATCAGTGCTAAGACATGCATCACTGTGACATAATGAAATTCAATCAGGACTGATCATGCTGAGACTCTGCTGTTTTTTTCTTTGGGTCTAAAAAACTTGTATACTCTATTTTAAGCATCCAAATATGATGATTCCTTTTGGGTTTAATATATCACTGTGGAAATAAATCTCAAAGTAGCAATTTTTTGCAACACTGATCAGAAATCCAAGTGTCACTTAAAACTTAAATATATACAAAATACAGCCACATACATATTCATCTTCAGATAATATAAGAAA... |
Task1_train_8906 | Here’s a variant in AGA (aspartylglucosaminidase) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Aspartylglucosaminuria | AACTGTGAGAAATAAATTTCTGTTGTTTATAAGCCATCCAGTCTGGGTATTTTGTTAACTGCCACTATAACAGGCAATTAACATTATTAATTATTATTAACAGGTGGGGCCTTTAAGAGGCGATTAGGCTAAAAGGGCTTAATGCCATTATCGCAGGGAGTGGGTTCCTGATATAAAGGATGAGTTCTACCCGATTTCCTGTCTCATTCTCTTGACTTCCACCTTGGGATGGCCCTTGCCAGATGCCAGTGCCCTGTTCTTGAACTTCTCAGGCTCCAGAACTGTGAGGCAAATAAACTTTTGTTTATAAATTACCCAGT... | AACTGTGAGAAATAAATTTCTGTTGTTTATAAGCCATCCAGTCTGGGTATTTTGTTAACTGCCACTATAACAGGCAATTAACATTATTAATTATTATTAACAGGTGGGGCCTTTAAGAGGCGATTAGGCTAAAAGGGCTTAATGCCATTATCGCAGGGAGTGGGTTCCTGATATAAAGGATGAGTTCTACCCGATTTCCTGTCTCATTCTCTTGACTTCCACCTTGGGATGGCCCTTGCCAGATGCCAGTGCCCTGTTCTTGAACTTCTCAGGCTCCAGAACTGTGAGGCAAATAAACTTTTGTTTATAAATTACCCAGT... |
Task1_train_8907 | An alteration has been detected in AGA (aspartylglucosaminidase) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Aspartylglucosaminuria | CAAAAGTCTCATTAAAGAAAAATTATTCCACTGGTAACATACTAGACATGTAATATTACATGTCCTCAAGTCAAGAACAAGATACTGGATACACTGCACGTAAAATCTAAGAAATATTTTAGACTCATAGTTTCCAAACTGATTTTTTAGACTTAGTTAGAAAGAAATACAAGCAGAGCAGCCCTGATTGAGGCAGCCACCTCCACATGGCAGAAACTTCAGTTTGAAAACTATTGTGAGAGACCAGTAGCTCTCCATGCTGGATATGCACCCAATGCAGCTAGAGGTGTTTCAGGAACATCCATACCTGGAGAGTCAAC... | CAAAAGTCTCATTAAAGAAAAATTATTCCACTGGTAACATACTAGACATGTAATATTACATGTCCTCAAGTCAAGAACAAGATACTGGATACACTGCACGTAAAATCTAAGAAATATTTTAGACTCATAGTTTCCAAACTGATTTTTTAGACTTAGTTAGAAAGAAATACAAGCAGAGCAGCCCTGATTGAGGCAGCCACCTCCACATGGCAGAAACTTCAGTTTGAAAACTATTGTGAGAGACCAGTAGCTCTCCATGCTGGATATGCACCCAATGCAGCTAGAGGTGTTTCAGGAACATCCATACCTGGAGAGTCAAC... |
Task1_train_8908 | Mutation context: Chromosome 4, Gene SLC25A4 (solute carrier family 25 member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | GCGCCTTTAGATGCAAGAAGGAGGAAACAGCTCGAAATCCCTGGGCCTGAGCGCGGCCCGTGCAGGCCGGAGGGTCAAGAACTCTCCACCGGCGGCAGCGGCCCGGTGTCTGCCCCGGCTTCGCCCCGGCCTAAGGCTGCCTGTGCTATAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGC... | GCGCCTTTAGATGCAAGAAGGAGGAAACAGCTCGAAATCCCTGGGCCTGAGCGCGGCCCGTGCAGGCCGGAGGGTCAAGAACTCTCCACCGGCGGCAGCGGCCCGGTGTCTGCCCCGGCTTCGCCCCGGCCTAAGGCTGCCTGTGCTATAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGC... |
Task1_train_8909 | Here is a mutation in SLC25A4 (solute carrier family 25 member 4) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | GCGCCTTTAGATGCAAGAAGGAGGAAACAGCTCGAAATCCCTGGGCCTGAGCGCGGCCCGTGCAGGCCGGAGGGTCAAGAACTCTCCACCGGCGGCAGCGGCCCGGTGTCTGCCCCGGCTTCGCCCCGGCCTAAGGCTGCCTGTGCTATAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGC... | GCGCCTTTAGATGCAAGAAGGAGGAAACAGCTCGAAATCCCTGGGCCTGAGCGCGGCCCGTGCAGGCCGGAGGGTCAAGAACTCTCCACCGGCGGCAGCGGCCCGGTGTCTGCCCCGGCTTCGCCCCGGCCTAAGGCTGCCTGTGCTATAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGC... |
Task1_train_8910 | This sequence change occurs on Chromosome 4, altering SLC25A4 (solute carrier family 25 member 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | GGCCCGTGCAGGCCGGAGGGTCAAGAACTCTCCACCGGCGGCAGCGGCCCGGTGTCTGCCCCGGCTTCGCCCCGGCCTAAGGCTGCCTGTGCTATAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGCCCCGCACCTGCCCAGCCAATGCGCGGCGCGAGCGCCGGCCGCGACCCGCCTCCT... | GGCCCGTGCAGGCCGGAGGGTCAAGAACTCTCCACCGGCGGCAGCGGCCCGGTGTCTGCCCCGGCTTCGCCCCGGCCTAAGGCTGCCTGTGCTATAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGCCCCGCACCTGCCCAGCCAATGCGCGGCGCGAGCGCCGGCCGCGACCCGCCTCCT... |
Task1_train_8911 | Gene SLC25A4 (solute carrier family 25 member 4), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | GGTCAAGAACTCTCCACCGGCGGCAGCGGCCCGGTGTCTGCCCCGGCTTCGCCCCGGCCTAAGGCTGCCTGTGCTATAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGCCCCGCACCTGCCCAGCCAATGCGCGGCGCGAGCGCCGGCCGCGACCCGCCTCCTCTCGCGAGAGCCCGGCGG... | GGTCAAGAACTCTCCACCGGCGGCAGCGGCCCGGTGTCTGCCCCGGCTTCGCCCCGGCCTAAGGCTGCCTGTGCTATAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGCCCCGCACCTGCCCAGCCAATGCGCGGCGCGAGCGCCGGCCGCGACCCGCCTCCTCTCGCGAGAGCCCGGCGG... |
Task1_train_8912 | A genomic change on Chromosome 4 affects SLC25A4 (solute carrier family 25 member 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CCCGGTGTCTGCCCCGGCTTCGCCCCGGCCTAAGGCTGCCTGTGCTATAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGCCCCGCACCTGCCCAGCCAATGCGCGGCGCGAGCGCCGGCCGCGACCCGCCTCCTCTCGCGAGAGCCCGGCGGGGATATAAGGGGGAGCTGCGGGCCAGGCG... | CCCGGTGTCTGCCCCGGCTTCGCCCCGGCCTAAGGCTGCCTGTGCTATAAATACGCGGCCCACATGCCGCGGTGACACGGTGTTCCCTGGGCTCGGCGGGACAGATAACATGAATGTGCCCTTTAAACGTCCCAAGTTGCAGGGACAGCCCCCGGCCCAGCCTCGCTCCCGGAAGCGCCTTCGCCCCCGATGCCCTCTGCAGCTGGGAGGAGGGGGCGCCCCGCACCTGCCCAGCCAATGCGCGGCGCGAGCGCCGGCCGCGACCCGCCTCCTCTCGCGAGAGCCCGGCGGGGATATAAGGGGGAGCTGCGGGCCAGGCG... |
Task1_train_8913 | Mutation context: Chromosome 4, Gene SLC25A4 (solute carrier family 25 member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mitochondrial disease | TTGCCAGTATTTTTGGCACCGTCTTATGCGCACGCACCTTTACAATAAAAACATCAAAATAATCATCACCCAAGAATTCCCTTATCGTATCTCATGCACAATGCTGTATGTAGGCTGACGCCTTCATCTTTATGTAACCTCTGTGAGAGAGTTATTCTTCTCCATTTTACAGATGAAGCTGAGGTTTTGAAATATTAAGAAACAATTTTCGGAATAAACTCAGATCATCCTGTCTCCAAATCTTTTCCTCCCCTACCTGGTCGCTGAATGGTTTATCATCCTCTCGTGTTTTCCTCCACCTGCCCAAAAGGTCAGGGCCC... | TTGCCAGTATTTTTGGCACCGTCTTATGCGCACGCACCTTTACAATAAAAACATCAAAATAATCATCACCCAAGAATTCCCTTATCGTATCTCATGCACAATGCTGTATGTAGGCTGACGCCTTCATCTTTATGTAACCTCTGTGAGAGAGTTATTCTTCTCCATTTTACAGATGAAGCTGAGGTTTTGAAATATTAAGAAACAATTTTCGGAATAAACTCAGATCATCCTGTCTCCAAATCTTTTCCTCCCCTACCTGGTCGCTGAATGGTTTATCATCCTCTCGTGTTTTCCTCCACCTGCCCAAAAGGTCAGGGCCC... |
Task1_train_8914 | Here’s a variant in SLC25A4 (solute carrier family 25 member 4) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | TTGCCAGTATTTTTGGCACCGTCTTATGCGCACGCACCTTTACAATAAAAACATCAAAATAATCATCACCCAAGAATTCCCTTATCGTATCTCATGCACAATGCTGTATGTAGGCTGACGCCTTCATCTTTATGTAACCTCTGTGAGAGAGTTATTCTTCTCCATTTTACAGATGAAGCTGAGGTTTTGAAATATTAAGAAACAATTTTCGGAATAAACTCAGATCATCCTGTCTCCAAATCTTTTCCTCCCCTACCTGGTCGCTGAATGGTTTATCATCCTCTCGTGTTTTCCTCCACCTGCCCAAAAGGTCAGGGCCC... | TTGCCAGTATTTTTGGCACCGTCTTATGCGCACGCACCTTTACAATAAAAACATCAAAATAATCATCACCCAAGAATTCCCTTATCGTATCTCATGCACAATGCTGTATGTAGGCTGACGCCTTCATCTTTATGTAACCTCTGTGAGAGAGTTATTCTTCTCCATTTTACAGATGAAGCTGAGGTTTTGAAATATTAAGAAACAATTTTCGGAATAAACTCAGATCATCCTGTCTCCAAATCTTTTCCTCCCCTACCTGGTCGCTGAATGGTTTATCATCCTCTCGTGTTTTCCTCCACCTGCCCAAAAGGTCAGGGCCC... |
Task1_train_8915 | A mutation in SLC25A4 (solute carrier family 25 member 4), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | CAGTATTTTTGGCACCGTCTTATGCGCACGCACCTTTACAATAAAAACATCAAAATAATCATCACCCAAGAATTCCCTTATCGTATCTCATGCACAATGCTGTATGTAGGCTGACGCCTTCATCTTTATGTAACCTCTGTGAGAGAGTTATTCTTCTCCATTTTACAGATGAAGCTGAGGTTTTGAAATATTAAGAAACAATTTTCGGAATAAACTCAGATCATCCTGTCTCCAAATCTTTTCCTCCCCTACCTGGTCGCTGAATGGTTTATCATCCTCTCGTGTTTTCCTCCACCTGCCCAAAAGGTCAGGGCCCCTCA... | CAGTATTTTTGGCACCGTCTTATGCGCACGCACCTTTACAATAAAAACATCAAAATAATCATCACCCAAGAATTCCCTTATCGTATCTCATGCACAATGCTGTATGTAGGCTGACGCCTTCATCTTTATGTAACCTCTGTGAGAGAGTTATTCTTCTCCATTTTACAGATGAAGCTGAGGTTTTGAAATATTAAGAAACAATTTTCGGAATAAACTCAGATCATCCTGTCTCCAAATCTTTTCCTCCCCTACCTGGTCGCTGAATGGTTTATCATCCTCTCGTGTTTTCCTCCACCTGCCCAAAAGGTCAGGGCCCCTCA... |
Task1_train_8916 | With a mutation on Chromosome 4 in gene SLC25A4 (solute carrier family 25 member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | GTTACTTCCCCACCCAAGCTCTCAACTTCGCCTTCAAGGACAAGTACAAGCAGCTCTTCTTAGGGGGTGTGGATCGGCATAAGCAGTTCTGGCGCTACTTTGCTGGTAACCTGGCGTCCGGTGGGGCCGCTGGGGCCACCTCCCTTTGCTTTGTCTACCCGCTGGACTTTGCTAGGACCAGGTTGGCTGCTGATGTGGGCAAGGGCGCCGCCCAGCGTGAGTTCCATGGTCTGGGCGACTGTATCATCAAGATCTTCAAGTCTGATGGCCTGAGGGGGCTCTACCAGGGTTTCAACGTCTCTGTCCAAGGCATCATTATC... | GTTACTTCCCCACCCAAGCTCTCAACTTCGCCTTCAAGGACAAGTACAAGCAGCTCTTCTTAGGGGGTGTGGATCGGCATAAGCAGTTCTGGCGCTACTTTGCTGGTAACCTGGCGTCCGGTGGGGCCGCTGGGGCCACCTCCCTTTGCTTTGTCTACCCGCTGGACTTTGCTAGGACCAGGTTGGCTGCTGATGTGGGCAAGGGCGCCGCCCAGCGTGAGTTCCATGGTCTGGGCGACTGTATCATCAAGATCTTCAAGTCTGATGGCCTGAGGGGGCTCTACCAGGGTTTCAACGTCTCTGTCCAAGGCATCATTATC... |
Task1_train_8917 | With a mutation on Chromosome 4 in gene UFSP2 (UFM1 specific peptidase 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hip dysplasia, Beukes type | GGGTGTCAGAATGGGATTGCATAGGGACATAGTGCATAGGACATGCTTCTTTCCTGTGAGATGACCAGCATGGGAACTTCAAACAGGAAAGCACCACAAGAAGGCAAAGAGGTCAGGCAGAGATGGAACTCTCCTCTGGCCTCCTGGGTTCCTGGAGTCAAGTGAATCAATAGTTTTAATGGCAGGACCTTGGCTGCACAGTTTCTTGTGTATACAAATAGAGCAAGGAGGTTTCTGCTGTTGAAAAGTTCTATAGAAATAGAACTAGCAAAGATGGAGATTGCAATTCTCAGAGAAAGAAATCAGGGACAATCCCTTAC... | GGGTGTCAGAATGGGATTGCATAGGGACATAGTGCATAGGACATGCTTCTTTCCTGTGAGATGACCAGCATGGGAACTTCAAACAGGAAAGCACCACAAGAAGGCAAAGAGGTCAGGCAGAGATGGAACTCTCCTCTGGCCTCCTGGGTTCCTGGAGTCAAGTGAATCAATAGTTTTAATGGCAGGACCTTGGCTGCACAGTTTCTTGTGTATACAAATAGAGCAAGGAGGTTTCTGCTGTTGAAAAGTTCTATAGAAATAGAACTAGCAAAGATGGAGATTGCAATTCTCAGAGAAAGAAATCAGGGACAATCCCTTAC... |
Task1_train_8918 | This sequence variant lies in UFSP2 (UFM1 specific peptidase 2) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Spondyloepimetaphyseal dysplasia, di rocco type | GGGTGTCAGAATGGGATTGCATAGGGACATAGTGCATAGGACATGCTTCTTTCCTGTGAGATGACCAGCATGGGAACTTCAAACAGGAAAGCACCACAAGAAGGCAAAGAGGTCAGGCAGAGATGGAACTCTCCTCTGGCCTCCTGGGTTCCTGGAGTCAAGTGAATCAATAGTTTTAATGGCAGGACCTTGGCTGCACAGTTTCTTGTGTATACAAATAGAGCAAGGAGGTTTCTGCTGTTGAAAAGTTCTATAGAAATAGAACTAGCAAAGATGGAGATTGCAATTCTCAGAGAAAGAAATCAGGGACAATCCCTTAC... | GGGTGTCAGAATGGGATTGCATAGGGACATAGTGCATAGGACATGCTTCTTTCCTGTGAGATGACCAGCATGGGAACTTCAAACAGGAAAGCACCACAAGAAGGCAAAGAGGTCAGGCAGAGATGGAACTCTCCTCTGGCCTCCTGGGTTCCTGGAGTCAAGTGAATCAATAGTTTTAATGGCAGGACCTTGGCTGCACAGTTTCTTGTGTATACAAATAGAGCAAGGAGGTTTCTGCTGTTGAAAAGTTCTATAGAAATAGAACTAGCAAAGATGGAGATTGCAATTCTCAGAGAAAGAAATCAGGGACAATCCCTTAC... |
Task1_train_8919 | A variant on Chromosome 4 in gene UFSP2 (UFM1 specific peptidase 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Spondyloepimetaphyseal dysplasia, di rocco type | TAGGCCTAAAATACATGTCTGTGAAATCAATGTGAAAACTGCAAAATGTTTTCAAGTGCAACATACTATTTTTAGGGAATCTCAGAATTTTTACTTTTGAAAAGAGAAAGATAGATGGGATAATGAAGGGAGGTATTTTTTGGGGGAAGGTGCCCGGTGGTGCTAAACCTTAGCTCTTGCTTAATGAGGAACGTATGTTTTAATGTACCAAAACTGTAACTTTTAAAAAAAGTTCTTCACTACTTAAGTCTGTCATTGTTTTATATTATTATTATTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAGGCTGGAGTGGAGT... | TAGGCCTAAAATACATGTCTGTGAAATCAATGTGAAAACTGCAAAATGTTTTCAAGTGCAACATACTATTTTTAGGGAATCTCAGAATTTTTACTTTTGAAAAGAGAAAGATAGATGGGATAATGAAGGGAGGTATTTTTTGGGGGAAGGTGCCCGGTGGTGCTAAACCTTAGCTCTTGCTTAATGAGGAACGTATGTTTTAATGTACCAAAACTGTAACTTTTAAAAAAAGTTCTTCACTACTTAAGTCTGTCATTGTTTTATATTATTATTATTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAGGCTGGAGTGGAGT... |
Task1_train_8920 | A genetic alteration is present in UFSP2 (UFM1 specific peptidase 2) on Chromosome 4. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hip dysplasia, Beukes type | ACTGCAAAATGTTTTCAAGTGCAACATACTATTTTTAGGGAATCTCAGAATTTTTACTTTTGAAAAGAGAAAGATAGATGGGATAATGAAGGGAGGTATTTTTTGGGGGAAGGTGCCCGGTGGTGCTAAACCTTAGCTCTTGCTTAATGAGGAACGTATGTTTTAATGTACCAAAACTGTAACTTTTAAAAAAAGTTCTTCACTACTTAAGTCTGTCATTGTTTTATATTATTATTATTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAGGCTGGAGTGGAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCTCAG... | ACTGCAAAATGTTTTCAAGTGCAACATACTATTTTTAGGGAATCTCAGAATTTTTACTTTTGAAAAGAGAAAGATAGATGGGATAATGAAGGGAGGTATTTTTTGGGGGAAGGTGCCCGGTGGTGCTAAACCTTAGCTCTTGCTTAATGAGGAACGTATGTTTTAATGTACCAAAACTGTAACTTTTAAAAAAAGTTCTTCACTACTTAAGTCTGTCATTGTTTTATATTATTATTATTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAGGCTGGAGTGGAGTGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCTCAG... |
Task1_train_8921 | A variant has been detected on Chromosome 4 in CYP4V2 (cytochrome P450 family 4 subfamily V member 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Bietti crystalline corneoretinal dystrophy | CACTGCTGCCCAGAGCAATCTCCCTTCTCTCCTTCTGGAGGGGAGGGGTTGTATGTTACCCGCCTGGTTTTATCCACAGAGGTTAGCAGAGACTGATACAGACAAACCCTTTTTCTTTCTAATTTTAGATTCAAGAGCACATGTGCAGGTTTGTTAAATTTGCCTGACGCTGAGGTTTGAGTTTCTATTGATCCCCTCACCTGAATAGGGAACACAGTACCCAATACACAGTTTTTCAACCATTACTCCCCTTCCTTCCTCCCCCTATTTTAGAATCCCCAGTATGTAGACAAATTGTTTACTTTTATAGCTGTAATTAA... | CACTGCTGCCCAGAGCAATCTCCCTTCTCTCCTTCTGGAGGGGAGGGGTTGTATGTTACCCGCCTGGTTTTATCCACAGAGGTTAGCAGAGACTGATACAGACAAACCCTTTTTCTTTCTAATTTTAGATTCAAGAGCACATGTGCAGGTTTGTTAAATTTGCCTGACGCTGAGGTTTGAGTTTCTATTGATCCCCTCACCTGAATAGGGAACACAGTACCCAATACACAGTTTTTCAACCATTACTCCCCTTCCTTCCTCCCCCTATTTTAGAATCCCCAGTATGTAGACAAATTGTTTACTTTTATAGCTGTAATTAA... |
Task1_train_8922 | Located on Chromosome 4, this mutation impacts CYP4V2 (cytochrome P450 family 4 subfamily V member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | AATCTCCCTTCTCTCCTTCTGGAGGGGAGGGGTTGTATGTTACCCGCCTGGTTTTATCCACAGAGGTTAGCAGAGACTGATACAGACAAACCCTTTTTCTTTCTAATTTTAGATTCAAGAGCACATGTGCAGGTTTGTTAAATTTGCCTGACGCTGAGGTTTGAGTTTCTATTGATCCCCTCACCTGAATAGGGAACACAGTACCCAATACACAGTTTTTCAACCATTACTCCCCTTCCTTCCTCCCCCTATTTTAGAATCCCCAGTATGTAGACAAATTGTTTACTTTTATAGCTGTAATTAACCTTATTATAGCTCAG... | AATCTCCCTTCTCTCCTTCTGGAGGGGAGGGGTTGTATGTTACCCGCCTGGTTTTATCCACAGAGGTTAGCAGAGACTGATACAGACAAACCCTTTTTCTTTCTAATTTTAGATTCAAGAGCACATGTGCAGGTTTGTTAAATTTGCCTGACGCTGAGGTTTGAGTTTCTATTGATCCCCTCACCTGAATAGGGAACACAGTACCCAATACACAGTTTTTCAACCATTACTCCCCTTCCTTCCTCCCCCTATTTTAGAATCCCCAGTATGTAGACAAATTGTTTACTTTTATAGCTGTAATTAACCTTATTATAGCTCAG... |
Task1_train_8923 | The gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | ATCACAAGACTTGACTGCTGCTTCAGTTCCCGCTTGACCTTCATACTTTAGCCCTTTAAAGGATGTTACATAATAACAATTAAGAGACGGCAGGGCCTTCAGGCAGACTTCTTTGGAGGGTGTCAAACGCCTTGTTTATTAAAGAGTGAATTTTTTAATTAAAATCATGTTTTAAAACAGAGATGGACATTTTATTGATGGAAAAAAATCACGTTAAGTTAGAAAGCTCTCAAAAGTACCTGGTATTTACAACTCCCTGTCAGGGAGGGCGAACTCGATCTCAGAGTTTTATTTTCATCAGGGATTACGTTGAGGTACCC... | ATCACAAGACTTGACTGCTGCTTCAGTTCCCGCTTGACCTTCATACTTTAGCCCTTTAAAGGATGTTACATAATAACAATTAAGAGACGGCAGGGCCTTCAGGCAGACTTCTTTGGAGGGTGTCAAACGCCTTGTTTATTAAAGAGTGAATTTTTTAATTAAAATCATGTTTTAAAACAGAGATGGACATTTTATTGATGGAAAAAAATCACGTTAAGTTAGAAAGCTCTCAAAAGTACCTGGTATTTACAACTCCCTGTCAGGGAGGGCGAACTCGATCTCAGAGTTTTATTTTCATCAGGGATTACGTTGAGGTACCC... |
Task1_train_8924 | This variant affects gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Bietti crystalline corneoretinal dystrophy | TGCCTTAGAACCACAGATTGAGACCTCCCTGTCCCCTCTGTCAGACCAGACCAGGGCAGGCAGTATATTTGCATGACGCAGGATGATTGACACTGGTGATTTCACCCAGCTCCCTTCATAGCAATTTTGACAACTGCTTCATCTGAGAGACATTTGGAAGCAGCATAGTTTATGGTGAAGTTCTGGAGTCTCGCTCGGTACAAGCCAGTTTCCACCATTTACTAGCTCTGTGATACTGGGCAGTCGTTAGAAAGAATGCCCGTTCTGGGACATCAAAACCTAATAATTATTATTCTCTAATAGCTAACATGCATTATGTG... | TGCCTTAGAACCACAGATTGAGACCTCCCTGTCCCCTCTGTCAGACCAGACCAGGGCAGGCAGTATATTTGCATGACGCAGGATGATTGACACTGGTGATTTCACCCAGCTCCCTTCATAGCAATTTTGACAACTGCTTCATCTGAGAGACATTTGGAAGCAGCATAGTTTATGGTGAAGTTCTGGAGTCTCGCTCGGTACAAGCCAGTTTCCACCATTTACTAGCTCTGTGATACTGGGCAGTCGTTAGAAAGAATGCCCGTTCTGGGACATCAAAACCTAATAATTATTATTCTCTAATAGCTAACATGCATTATGTG... |
Task1_train_8925 | A variant found in Chromosome 4 affects CYP4V2 (cytochrome P450 family 4 subfamily V member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Retinal dystrophy | TGCCTTAGAACCACAGATTGAGACCTCCCTGTCCCCTCTGTCAGACCAGACCAGGGCAGGCAGTATATTTGCATGACGCAGGATGATTGACACTGGTGATTTCACCCAGCTCCCTTCATAGCAATTTTGACAACTGCTTCATCTGAGAGACATTTGGAAGCAGCATAGTTTATGGTGAAGTTCTGGAGTCTCGCTCGGTACAAGCCAGTTTCCACCATTTACTAGCTCTGTGATACTGGGCAGTCGTTAGAAAGAATGCCCGTTCTGGGACATCAAAACCTAATAATTATTATTCTCTAATAGCTAACATGCATTATGTG... | TGCCTTAGAACCACAGATTGAGACCTCCCTGTCCCCTCTGTCAGACCAGACCAGGGCAGGCAGTATATTTGCATGACGCAGGATGATTGACACTGGTGATTTCACCCAGCTCCCTTCATAGCAATTTTGACAACTGCTTCATCTGAGAGACATTTGGAAGCAGCATAGTTTATGGTGAAGTTCTGGAGTCTCGCTCGGTACAAGCCAGTTTCCACCATTTACTAGCTCTGTGATACTGGGCAGTCGTTAGAAAGAATGCCCGTTCTGGGACATCAAAACCTAATAATTATTATTCTCTAATAGCTAACATGCATTATGTG... |
Task1_train_8926 | This variant affects gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | TCAATGATAAACTTAGTCCAAATTTAAAAGACAATGCAAATTTGATATTTATGGGATAAATATTACAAACCCATGCTGTTGAAATTAGTCCTCCAAAAAGCTGTAGTCTTTTTACTTGTTGAAAGGTCTGGGGAAATCATCTTGTAGTATGGTGAGAAAAGGATTTGGGTCAGGAAACAAAGATGGGGTAAACAGAGCTTCTCTTCATCGACCAAAATTAAAGACTGAATTTCCTAGGAAGTAGTGCCAGGACATGTCTTTCTAATTATGGTGAAAATGTTGGAGTTTCTCTTGCTTCTCCAGAATCCTGGCTCAGAGAA... | TCAATGATAAACTTAGTCCAAATTTAAAAGACAATGCAAATTTGATATTTATGGGATAAATATTACAAACCCATGCTGTTGAAATTAGTCCTCCAAAAAGCTGTAGTCTTTTTACTTGTTGAAAGGTCTGGGGAAATCATCTTGTAGTATGGTGAGAAAAGGATTTGGGTCAGGAAACAAAGATGGGGTAAACAGAGCTTCTCTTCATCGACCAAAATTAAAGACTGAATTTCCTAGGAAGTAGTGCCAGGACATGTCTTTCTAATTATGGTGAAAATGTTGGAGTTTCTCTTGCTTCTCCAGAATCCTGGCTCAGAGAA... |
Task1_train_8927 | The variant affects gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Bietti crystalline corneoretinal dystrophy | TCAATGATAAACTTAGTCCAAATTTAAAAGACAATGCAAATTTGATATTTATGGGATAAATATTACAAACCCATGCTGTTGAAATTAGTCCTCCAAAAAGCTGTAGTCTTTTTACTTGTTGAAAGGTCTGGGGAAATCATCTTGTAGTATGGTGAGAAAAGGATTTGGGTCAGGAAACAAAGATGGGGTAAACAGAGCTTCTCTTCATCGACCAAAATTAAAGACTGAATTTCCTAGGAAGTAGTGCCAGGACATGTCTTTCTAATTATGGTGAAAATGTTGGAGTTTCTCTTGCTTCTCCAGAATCCTGGCTCAGAGAA... | TCAATGATAAACTTAGTCCAAATTTAAAAGACAATGCAAATTTGATATTTATGGGATAAATATTACAAACCCATGCTGTTGAAATTAGTCCTCCAAAAAGCTGTAGTCTTTTTACTTGTTGAAAGGTCTGGGGAAATCATCTTGTAGTATGGTGAGAAAAGGATTTGGGTCAGGAAACAAAGATGGGGTAAACAGAGCTTCTCTTCATCGACCAAAATTAAAGACTGAATTTCCTAGGAAGTAGTGCCAGGACATGTCTTTCTAATTATGGTGAAAATGTTGGAGTTTCTCTTGCTTCTCCAGAATCCTGGCTCAGAGAA... |
Task1_train_8928 | Gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Bietti crystalline corneoretinal dystrophy | GGGGACACTCCGAACAGGCATCTCCAGCTCAGGCCTTATCTTGGCTGTCTCACTTGCTTTCAGACCACAGCAACCTGAAGGCCTCAAAGTTACCATCACCTGAAAATACACCTATGATTTCCATCTCCCCACATGTGCCCACCCTCCAGATTCGCCTCCTCCCACCTCACTGTCCCCCTCCCCACATTAAATAACTCCACTTGGTTCCTGGTTTATGGCGGGAACCAGAGAATCATCTGGGACATCTTTCTTCCCCCCAACTCCATTGAGTCCCCAAGACTGAATGCCAGTTTTATGTTCAAAACTCTAACTGAATGTCT... | GGGGACACTCCGAACAGGCATCTCCAGCTCAGGCCTTATCTTGGCTGTCTCACTTGCTTTCAGACCACAGCAACCTGAAGGCCTCAAAGTTACCATCACCTGAAAATACACCTATGATTTCCATCTCCCCACATGTGCCCACCCTCCAGATTCGCCTCCTCCCACCTCACTGTCCCCCTCCCCACATTAAATAACTCCACTTGGTTCCTGGTTTATGGCGGGAACCAGAGAATCATCTGGGACATCTTTCTTCCCCCCAACTCCATTGAGTCCCCAAGACTGAATGCCAGTTTTATGTTCAAAACTCTAACTGAATGTCT... |
Task1_train_8929 | This alteration in CYP4V2 (cytochrome P450 family 4 subfamily V member 2) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Bietti crystalline corneoretinal dystrophy | GGAGCCTATGTCTCAGAAAATAAAACTTGAATAATAATAGAAAACAATTTTTCATATAAAAAATTATACTTAAGTATAAAAATGTATACTTCAATTATGTAGTCAACAAATATTAATTAAGTACTCGCTAAGTGCTAACCACCATACCAAATGTTGGAAATGTAGTAATGAGTAGGACATGTGTATATGGTCCGTACCTGAAAGGAAGTTATTCTAGTAGGAGAGGTGATCTATCAACACATAATTACAACATGTGATATGAGCTGTGAACACTTATGAACAAACAGGGTGCTGTGTAAAAGAATAAAGGAACAAAGATC... | GGAGCCTATGTCTCAGAAAATAAAACTTGAATAATAATAGAAAACAATTTTTCATATAAAAAATTATACTTAAGTATAAAAATGTATACTTCAATTATGTAGTCAACAAATATTAATTAAGTACTCGCTAAGTGCTAACCACCATACCAAATGTTGGAAATGTAGTAATGAGTAGGACATGTGTATATGGTCCGTACCTGAAAGGAAGTTATTCTAGTAGGAGAGGTGATCTATCAACACATAATTACAACATGTGATATGAGCTGTGAACACTTATGAACAAACAGGGTGCTGTGTAAAAGAATAAAGGAACAAAGATC... |
Task1_train_8930 | The following genetic variant occurs in CYP4V2 (cytochrome P450 family 4 subfamily V member 2) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Bietti crystalline corneoretinal dystrophy | ACATTCATATATGTGCACAACCCCATACACATATGTACACACATGTGCACACACACATCCATCTCCTACCAGGAACCTCTCAATCTCACGTAAACAATCAGAACCAGACTAATGATTTTTCTTCCAACTCTAACATTCCTTGACATTCTAATTGTTTTCTTCTTTGCATTGAAAGGGAGGCAGCATACCAGGTGTGAGTGTGATACTGTGGCCTCCTCCACAGGTCGGTGCAGGCTGTGAGTGACACTGTGGCCTCCTCCACAGGCCGGTGCAGGCTGTGAGTGTGATACTGTGGCCTCCTCCACAGGCTGGTGCAGGCT... | ACATTCATATATGTGCACAACCCCATACACATATGTACACACATGTGCACACACACATCCATCTCCTACCAGGAACCTCTCAATCTCACGTAAACAATCAGAACCAGACTAATGATTTTTCTTCCAACTCTAACATTCCTTGACATTCTAATTGTTTTCTTCTTTGCATTGAAAGGGAGGCAGCATACCAGGTGTGAGTGTGATACTGTGGCCTCCTCCACAGGTCGGTGCAGGCTGTGAGTGACACTGTGGCCTCCTCCACAGGCCGGTGCAGGCTGTGAGTGTGATACTGTGGCCTCCTCCACAGGCTGGTGCAGGCT... |
Task1_train_8931 | An alteration has been detected in CYP4V2 (cytochrome P450 family 4 subfamily V member 2) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinal dystrophy | ACATTCATATATGTGCACAACCCCATACACATATGTACACACATGTGCACACACACATCCATCTCCTACCAGGAACCTCTCAATCTCACGTAAACAATCAGAACCAGACTAATGATTTTTCTTCCAACTCTAACATTCCTTGACATTCTAATTGTTTTCTTCTTTGCATTGAAAGGGAGGCAGCATACCAGGTGTGAGTGTGATACTGTGGCCTCCTCCACAGGTCGGTGCAGGCTGTGAGTGACACTGTGGCCTCCTCCACAGGCCGGTGCAGGCTGTGAGTGTGATACTGTGGCCTCCTCCACAGGCTGGTGCAGGCT... | ACATTCATATATGTGCACAACCCCATACACATATGTACACACATGTGCACACACACATCCATCTCCTACCAGGAACCTCTCAATCTCACGTAAACAATCAGAACCAGACTAATGATTTTTCTTCCAACTCTAACATTCCTTGACATTCTAATTGTTTTCTTCTTTGCATTGAAAGGGAGGCAGCATACCAGGTGTGAGTGTGATACTGTGGCCTCCTCCACAGGTCGGTGCAGGCTGTGAGTGACACTGTGGCCTCCTCCACAGGCCGGTGCAGGCTGTGAGTGTGATACTGTGGCCTCCTCCACAGGCTGGTGCAGGCT... |
Task1_train_8932 | A genomic change on Chromosome 4 affects CYP4V2 (cytochrome P450 family 4 subfamily V member 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Bietti crystalline corneoretinal dystrophy | CATATGTACACACATGTGCACACACACATCCATCTCCTACCAGGAACCTCTCAATCTCACGTAAACAATCAGAACCAGACTAATGATTTTTCTTCCAACTCTAACATTCCTTGACATTCTAATTGTTTTCTTCTTTGCATTGAAAGGGAGGCAGCATACCAGGTGTGAGTGTGATACTGTGGCCTCCTCCACAGGTCGGTGCAGGCTGTGAGTGACACTGTGGCCTCCTCCACAGGCCGGTGCAGGCTGTGAGTGTGATACTGTGGCCTCCTCCACAGGCTGGTGCAGGCTGCAACTGCCCAGGTTCCAGCTGTGAGCTA... | CATATGTACACACATGTGCACACACACATCCATCTCCTACCAGGAACCTCTCAATCTCACGTAAACAATCAGAACCAGACTAATGATTTTTCTTCCAACTCTAACATTCCTTGACATTCTAATTGTTTTCTTCTTTGCATTGAAAGGGAGGCAGCATACCAGGTGTGAGTGTGATACTGTGGCCTCCTCCACAGGTCGGTGCAGGCTGTGAGTGACACTGTGGCCTCCTCCACAGGCCGGTGCAGGCTGTGAGTGTGATACTGTGGCCTCCTCCACAGGCTGGTGCAGGCTGCAACTGCCCAGGTTCCAGCTGTGAGCTA... |
Task1_train_8933 | The gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Bietti crystalline corneoretinal dystrophy | TGCCTTGAGTGGATAAATTTGGTCTTCCAAAAGCTCACAAGTTCTTTTGGAATAGGCTTCAATCTTTTGTATCCCCTACAAAGTTTAGCTCATTACCAGTTTCACAAAGCTTTGTGGTCCTGCAGAATGAGTGACACAGTCATCATTACTAGAAGCTTTGCTCTGTGATTCTTGTGTTTTCTGCTCATTGTGCCTCACTTTTTCTTCTACCCCCAATCCTAGTTCTAGAATTTTTGAGCAACTAAGCTGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGA... | TGCCTTGAGTGGATAAATTTGGTCTTCCAAAAGCTCACAAGTTCTTTTGGAATAGGCTTCAATCTTTTGTATCCCCTACAAAGTTTAGCTCATTACCAGTTTCACAAAGCTTTGTGGTCCTGCAGAATGAGTGACACAGTCATCATTACTAGAAGCTTTGCTCTGTGATTCTTGTGTTTTCTGCTCATTGTGCCTCACTTTTTCTTCTACCCCCAATCCTAGTTCTAGAATTTTTGAGCAACTAAGCTGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGA... |
Task1_train_8934 | A variant was discovered on Chromosome 4, affecting CYP4V2 (cytochrome P450 family 4 subfamily V member 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Bietti crystalline corneoretinal dystrophy | GATAAATTTGGTCTTCCAAAAGCTCACAAGTTCTTTTGGAATAGGCTTCAATCTTTTGTATCCCCTACAAAGTTTAGCTCATTACCAGTTTCACAAAGCTTTGTGGTCCTGCAGAATGAGTGACACAGTCATCATTACTAGAAGCTTTGCTCTGTGATTCTTGTGTTTTCTGCTCATTGTGCCTCACTTTTTCTTCTACCCCCAATCCTAGTTCTAGAATTTTTGAGCAACTAAGCTGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATC... | GATAAATTTGGTCTTCCAAAAGCTCACAAGTTCTTTTGGAATAGGCTTCAATCTTTTGTATCCCCTACAAAGTTTAGCTCATTACCAGTTTCACAAAGCTTTGTGGTCCTGCAGAATGAGTGACACAGTCATCATTACTAGAAGCTTTGCTCTGTGATTCTTGTGTTTTCTGCTCATTGTGCCTCACTTTTTCTTCTACCCCCAATCCTAGTTCTAGAATTTTTGAGCAACTAAGCTGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATC... |
Task1_train_8935 | This variant affects the gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Bietti crystalline corneoretinal dystrophy | ATAAATTTGGTCTTCCAAAAGCTCACAAGTTCTTTTGGAATAGGCTTCAATCTTTTGTATCCCCTACAAAGTTTAGCTCATTACCAGTTTCACAAAGCTTTGTGGTCCTGCAGAATGAGTGACACAGTCATCATTACTAGAAGCTTTGCTCTGTGATTCTTGTGTTTTCTGCTCATTGTGCCTCACTTTTTCTTCTACCCCCAATCCTAGTTCTAGAATTTTTGAGCAACTAAGCTGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC... | ATAAATTTGGTCTTCCAAAAGCTCACAAGTTCTTTTGGAATAGGCTTCAATCTTTTGTATCCCCTACAAAGTTTAGCTCATTACCAGTTTCACAAAGCTTTGTGGTCCTGCAGAATGAGTGACACAGTCATCATTACTAGAAGCTTTGCTCTGTGATTCTTGTGTTTTCTGCTCATTGTGCCTCACTTTTTCTTCTACCCCCAATCCTAGTTCTAGAATTTTTGAGCAACTAAGCTGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC... |
Task1_train_8936 | A variant was discovered on Chromosome 4, affecting CYP4V2 (cytochrome P450 family 4 subfamily V member 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | TCCTGGCTAACACAGTGAAACCCTGTCTCTATTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGACATGAACCCCTCAGGGGGCGGAGCTTACAGTGAGCAGAGATTGCACCACTGCATTCCAGCCTGGGCAGCAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAAACATTTGAGCAACTATTCTTTGTGTAGTGAGTTATTACTTTGCATTATTAATTAATAATTAATTATTAAATTATATTTATATTAAAA... | TCCTGGCTAACACAGTGAAACCCTGTCTCTATTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGACATGAACCCCTCAGGGGGCGGAGCTTACAGTGAGCAGAGATTGCACCACTGCATTCCAGCCTGGGCAGCAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAAACATTTGAGCAACTATTCTTTGTGTAGTGAGTTATTACTTTGCATTATTAATTAATAATTAATTATTAAATTATATTTATATTAAAA... |
Task1_train_8937 | This mutation is located in gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Bietti crystalline corneoretinal dystrophy | TGGCTAACACAGTGAAACCCTGTCTCTATTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGACATGAACCCCTCAGGGGGCGGAGCTTACAGTGAGCAGAGATTGCACCACTGCATTCCAGCCTGGGCAGCAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAAACATTTGAGCAACTATTCTTTGTGTAGTGAGTTATTACTTTGCATTATTAATTAATAATTAATTATTAAATTATATTTATATTAAAAATT... | TGGCTAACACAGTGAAACCCTGTCTCTATTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGACATGAACCCCTCAGGGGGCGGAGCTTACAGTGAGCAGAGATTGCACCACTGCATTCCAGCCTGGGCAGCAGAGCAAGACTCTGTCTCCAAAAAAAAAAAAAGAAAGAAAGAAAGAAAAAAACATTTGAGCAACTATTCTTTGTGTAGTGAGTTATTACTTTGCATTATTAATTAATAATTAATTATTAAATTATATTTATATTAAAAATT... |
Task1_train_8938 | Gene CYP4V2 (cytochrome P450 family 4 subfamily V member 2) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Bietti crystalline corneoretinal dystrophy | ATTTAGCATCCAGTACCTTGATCCACATGTTCTTCTTTGAAGGGTATTTGATGGGTATTTAGCATCCCCTGCCTTGGTCCACGTGTTTTTCTTTGAAGGGTATTTGATGGGTATTTAGCATCCAGTACCTTGATCCACATGTTCTTCTTTGATGGGCATTTGATGGGTATTTAGCATCCCCTGCCTTGATCCACGTGTTCTTCTTTGTTGGGTATTTGATGGGTATTTAGCATGCCATGCCTTGATCCACCTGTTCTTTTTAGATGTCTGCACCCCCAGCCCCCACTGCTCTTTCAGGTCATCTTATCTACTTGCTTTCA... | ATTTAGCATCCAGTACCTTGATCCACATGTTCTTCTTTGAAGGGTATTTGATGGGTATTTAGCATCCCCTGCCTTGGTCCACGTGTTTTTCTTTGAAGGGTATTTGATGGGTATTTAGCATCCAGTACCTTGATCCACATGTTCTTCTTTGATGGGCATTTGATGGGTATTTAGCATCCCCTGCCTTGATCCACGTGTTCTTCTTTGTTGGGTATTTGATGGGTATTTAGCATGCCATGCCTTGATCCACCTGTTCTTTTTAGATGTCTGCACCCCCAGCCCCCACTGCTCTTTCAGGTCATCTTATCTACTTGCTTTCA... |
Task1_train_8939 | Mutation context: Chromosome 4, Gene KLKB1 (kallikrein B1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Prekallikrein deficiency | ACAGTTTCCAATGCTATCCTAATAAATTTAAGACAAATGAACTATTTCTCAAACATGACTGGGACTGATAAGAAAGTGAAAAGTGCTGAAAAGATTCAACTGATGGGTTGTCAGAATCTTAAAATAACTGCTGTTATTCTATGTATGACTATATATCATTACTATTTTATTTTCATTATGCACAATTAATTTTGTAGGTTCAAATTTCAGATGTTTTTAAATTTGTCATCCTTTCCTCCCTCATTGATATCACCTCTTCAATACGTACACACTTTGAGCCTGCTGTTTGCATTTTAACCAGTTATCAAAGGATGGCAATG... | ACAGTTTCCAATGCTATCCTAATAAATTTAAGACAAATGAACTATTTCTCAAACATGACTGGGACTGATAAGAAAGTGAAAAGTGCTGAAAAGATTCAACTGATGGGTTGTCAGAATCTTAAAATAACTGCTGTTATTCTATGTATGACTATATATCATTACTATTTTATTTTCATTATGCACAATTAATTTTGTAGGTTCAAATTTCAGATGTTTTTAAATTTGTCATCCTTTCCTCCCTCATTGATATCACCTCTTCAATACGTACACACTTTGAGCCTGCTGTTTGCATTTTAACCAGTTATCAAAGGATGGCAATG... |
Task1_train_8940 | This variant affects the gene F11 (coagulation factor XI) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary factor XI deficiency disease | GCTGGTCTAGAACTCCTGGCCTCAAGCAATCCACCTGCCTTGGTCTCCCACAGTGCAGGGATTACAAGCCTGAGCCACTATGCCCAGCTTGCTATTCCTCATTGACAACATTCACTTAAACAAGCAAACAAATATCCGTAAAATTAAGTCAGCTTTAAAACCTGGCTTGTATATATCTCTGAATTGGAACTCTCAGAGCCCTCAGCACTTGCCTGATTGGCCTCCTGTTGATGAAAAGTTGTCCTCCAGACAACTCAGCCAAGGGAGGCCCTGTGTGCCTTGCCTATCACATGAGCCTCACTTTCCACTGAGTGAGGCTG... | GCTGGTCTAGAACTCCTGGCCTCAAGCAATCCACCTGCCTTGGTCTCCCACAGTGCAGGGATTACAAGCCTGAGCCACTATGCCCAGCTTGCTATTCCTCATTGACAACATTCACTTAAACAAGCAAACAAATATCCGTAAAATTAAGTCAGCTTTAAAACCTGGCTTGTATATATCTCTGAATTGGAACTCTCAGAGCCCTCAGCACTTGCCTGATTGGCCTCCTGTTGATGAAAAGTTGTCCTCCAGACAACTCAGCCAAGGGAGGCCCTGTGTGCCTTGCCTATCACATGAGCCTCACTTTCCACTGAGTGAGGCTG... |
Task1_train_8941 | The following genetic variant occurs in F11 (coagulation factor XI) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary factor XI deficiency disease | CTCAGCACTTGCCTGATTGGCCTCCTGTTGATGAAAAGTTGTCCTCCAGACAACTCAGCCAAGGGAGGCCCTGTGTGCCTTGCCTATCACATGAGCCTCACTTTCCACTGAGTGAGGCTGTCATTTCAGAAGCACCGGGTCTGTCACATGAAAATATATCTGTTACCATCACTTACTAAACAAATTTAGTAGAATTTGTTTGGTGCTTATTATGTATCAGGCATTGTTCTGAAGGCTGGGGATACCATTTAGTGAACTAAATCGACAAAAACTTTGCCTATTGGACCAGAGTGGAGATGAGAGAGAAGTGACCAGATCGA... | CTCAGCACTTGCCTGATTGGCCTCCTGTTGATGAAAAGTTGTCCTCCAGACAACTCAGCCAAGGGAGGCCCTGTGTGCCTTGCCTATCACATGAGCCTCACTTTCCACTGAGTGAGGCTGTCATTTCAGAAGCACCGGGTCTGTCACATGAAAATATATCTGTTACCATCACTTACTAAACAAATTTAGTAGAATTTGTTTGGTGCTTATTATGTATCAGGCATTGTTCTGAAGGCTGGGGATACCATTTAGTGAACTAAATCGACAAAAACTTTGCCTATTGGACCAGAGTGGAGATGAGAGAGAAGTGACCAGATCGA... |
Task1_train_8942 | With a mutation on Chromosome 4 in gene F11 (coagulation factor XI), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Factor XI | CTCAGCACTTGCCTGATTGGCCTCCTGTTGATGAAAAGTTGTCCTCCAGACAACTCAGCCAAGGGAGGCCCTGTGTGCCTTGCCTATCACATGAGCCTCACTTTCCACTGAGTGAGGCTGTCATTTCAGAAGCACCGGGTCTGTCACATGAAAATATATCTGTTACCATCACTTACTAAACAAATTTAGTAGAATTTGTTTGGTGCTTATTATGTATCAGGCATTGTTCTGAAGGCTGGGGATACCATTTAGTGAACTAAATCGACAAAAACTTTGCCTATTGGACCAGAGTGGAGATGAGAGAGAAGTGACCAGATCGA... | CTCAGCACTTGCCTGATTGGCCTCCTGTTGATGAAAAGTTGTCCTCCAGACAACTCAGCCAAGGGAGGCCCTGTGTGCCTTGCCTATCACATGAGCCTCACTTTCCACTGAGTGAGGCTGTCATTTCAGAAGCACCGGGTCTGTCACATGAAAATATATCTGTTACCATCACTTACTAAACAAATTTAGTAGAATTTGTTTGGTGCTTATTATGTATCAGGCATTGTTCTGAAGGCTGGGGATACCATTTAGTGAACTAAATCGACAAAAACTTTGCCTATTGGACCAGAGTGGAGATGAGAGAGAAGTGACCAGATCGA... |
Task1_train_8943 | Located on Chromosome 4, this mutation impacts F11 (coagulation factor XI). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hereditary factor XI deficiency disease | ATGTTGCTGTTAAGTAATGTTGACATGGTTTAATAAAATGGGAATGAGCACGTATACCTCAATACATTGCAGACTGCATTTTCCCCCTTCCTTCTTCATTATGGTTTTCTCTGTTGGATTTATAGACTCTGGCCTGTAGAAGTTACAGAATATGCCAGGTATAGATTGATAGCTACAGGAGAAAATGTAAGATAAAGGAAAATAAAGTCTTACGTCTTTTCAGTGCAACTTTGGAGGGAGTGAATTAGATAACTAGGTTTTTACTGCGCTGTATTTGATGAAATAACCCCCTAATGTGAAAGGGAATAGCTGCGTGAGAT... | ATGTTGCTGTTAAGTAATGTTGACATGGTTTAATAAAATGGGAATGAGCACGTATACCTCAATACATTGCAGACTGCATTTTCCCCCTTCCTTCTTCATTATGGTTTTCTCTGTTGGATTTATAGACTCTGGCCTGTAGAAGTTACAGAATATGCCAGGTATAGATTGATAGCTACAGGAGAAAATGTAAGATAAAGGAAAATAAAGTCTTACGTCTTTTCAGTGCAACTTTGGAGGGAGTGAATTAGATAACTAGGTTTTTACTGCGCTGTATTTGATGAAATAACCCCCTAATGTGAAAGGGAATAGCTGCGTGAGAT... |
Task1_train_8944 | Gene F11 (coagulation factor XI) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not specified | TTTTCCCCCTTCCTTCTTCATTATGGTTTTCTCTGTTGGATTTATAGACTCTGGCCTGTAGAAGTTACAGAATATGCCAGGTATAGATTGATAGCTACAGGAGAAAATGTAAGATAAAGGAAAATAAAGTCTTACGTCTTTTCAGTGCAACTTTGGAGGGAGTGAATTAGATAACTAGGTTTTTACTGCGCTGTATTTGATGAAATAACCCCCTAATGTGAAAGGGAATAGCTGCGTGAGATATTTATGGTGCCTTGTCTGTCACTGGTCTACAATGTAACTTAACTTTCTGAAGATAGATAGCAGCACCATTAAAATAA... | TTTTCCCCCTTCCTTCTTCATTATGGTTTTCTCTGTTGGATTTATAGACTCTGGCCTGTAGAAGTTACAGAATATGCCAGGTATAGATTGATAGCTACAGGAGAAAATGTAAGATAAAGGAAAATAAAGTCTTACGTCTTTTCAGTGCAACTTTGGAGGGAGTGAATTAGATAACTAGGTTTTTACTGCGCTGTATTTGATGAAATAACCCCCTAATGTGAAAGGGAATAGCTGCGTGAGATATTTATGGTGCCTTGTCTGTCACTGGTCTACAATGTAACTTAACTTTCTGAAGATAGATAGCAGCACCATTAAAATAA... |
Task1_train_8945 | This variant impacts the gene F11 (coagulation factor XI) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary factor XI deficiency disease | AGGGCTGGTTCAAACACAGATGGCTGAGCTTCCAGGCTGGAGTTTCTCATTCACTGGATCTGAGGTTGGGCTGAAGAATGTGCATTTCTAACACGTTCCCAGGTGACGCTGTTGGTCTGGAGACTGCACTTGACAACCACTGGTTTAAAAACACCATTCACGTTATCATTTGAAGGAGGGTAAGACAGCCTTGTAGTACCACACAAGGAGGGCTACATTCTTAGGGGTGTGTAATTACAAGATGACTTAGTCAATTCCATTTTTCATGTGCATGTTTTGCTTTGGCAGCTTGATTATAAAGTCTCTGTAACTCAGGGTCA... | AGGGCTGGTTCAAACACAGATGGCTGAGCTTCCAGGCTGGAGTTTCTCATTCACTGGATCTGAGGTTGGGCTGAAGAATGTGCATTTCTAACACGTTCCCAGGTGACGCTGTTGGTCTGGAGACTGCACTTGACAACCACTGGTTTAAAAACACCATTCACGTTATCATTTGAAGGAGGGTAAGACAGCCTTGTAGTACCACACAAGGAGGGCTACATTCTTAGGGGTGTGTAATTACAAGATGACTTAGTCAATTCCATTTTTCATGTGCATGTTTTGCTTTGGCAGCTTGATTATAAAGTCTCTGTAACTCAGGGTCA... |
Task1_train_8946 | With a mutation on Chromosome 4 in gene F11, F11-AS1 (coagulation factor XI| F11 antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary factor XI deficiency disease | GAGATAGAAATGTAATATACACTGATTGCTGGGTGACTGGATGGGGGTACAGAAAACTAAGAGGTAAAAATGATGTTGTTATATGTGCTCCATCCTAGAAATGAAGAGCGGAACCTTTTCTGCCCTGTCAAGTCATGTAGCTGAAGCACAACTCGAGTCACACTACTCAGTTGCAGGAAGCGGATTAATAAAGATGGAGAGGCAAAAATCACCCAAGTGAGGCTGGTGCCTCATATGTTTGATTGGAAATTTTAAATGTGACTAAATCTCTTTAAAGACTAATTATATTTAATGAAGTTTAATGTGAAGCCTAGCACTTT... | GAGATAGAAATGTAATATACACTGATTGCTGGGTGACTGGATGGGGGTACAGAAAACTAAGAGGTAAAAATGATGTTGTTATATGTGCTCCATCCTAGAAATGAAGAGCGGAACCTTTTCTGCCCTGTCAAGTCATGTAGCTGAAGCACAACTCGAGTCACACTACTCAGTTGCAGGAAGCGGATTAATAAAGATGGAGAGGCAAAAATCACCCAAGTGAGGCTGGTGCCTCATATGTTTGATTGGAAATTTTAAATGTGACTAAATCTCTTTAAAGACTAATTATATTTAATGAAGTTTAATGTGAAGCCTAGCACTTT... |
Task1_train_8947 | This variant impacts the gene F11, F11-AS1 (coagulation factor XI| F11 antisense RNA 1) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary factor XI deficiency disease | TGATTGCTGGGTGACTGGATGGGGGTACAGAAAACTAAGAGGTAAAAATGATGTTGTTATATGTGCTCCATCCTAGAAATGAAGAGCGGAACCTTTTCTGCCCTGTCAAGTCATGTAGCTGAAGCACAACTCGAGTCACACTACTCAGTTGCAGGAAGCGGATTAATAAAGATGGAGAGGCAAAAATCACCCAAGTGAGGCTGGTGCCTCATATGTTTGATTGGAAATTTTAAATGTGACTAAATCTCTTTAAAGACTAATTATATTTAATGAAGTTTAATGTGAAGCCTAGCACTTTTCAGTAAATGTTCTAGCCTGCT... | TGATTGCTGGGTGACTGGATGGGGGTACAGAAAACTAAGAGGTAAAAATGATGTTGTTATATGTGCTCCATCCTAGAAATGAAGAGCGGAACCTTTTCTGCCCTGTCAAGTCATGTAGCTGAAGCACAACTCGAGTCACACTACTCAGTTGCAGGAAGCGGATTAATAAAGATGGAGAGGCAAAAATCACCCAAGTGAGGCTGGTGCCTCATATGTTTGATTGGAAATTTTAAATGTGACTAAATCTCTTTAAAGACTAATTATATTTAATGAAGTTTAATGTGAAGCCTAGCACTTTTCAGTAAATGTTCTAGCCTGCT... |
Task1_train_8948 | A variant affecting Chromosome 4, within the gene F11, F11-AS1 (coagulation factor XI| F11 antisense RNA 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hereditary factor XI deficiency disease | GGTAAAAATGATGTTGTTATATGTGCTCCATCCTAGAAATGAAGAGCGGAACCTTTTCTGCCCTGTCAAGTCATGTAGCTGAAGCACAACTCGAGTCACACTACTCAGTTGCAGGAAGCGGATTAATAAAGATGGAGAGGCAAAAATCACCCAAGTGAGGCTGGTGCCTCATATGTTTGATTGGAAATTTTAAATGTGACTAAATCTCTTTAAAGACTAATTATATTTAATGAAGTTTAATGTGAAGCCTAGCACTTTTCAGTAAATGTTCTAGCCTGCTATCCAATTACTTTCTTGGGAAGTCATTCCAGTTAGAGTCA... | GGTAAAAATGATGTTGTTATATGTGCTCCATCCTAGAAATGAAGAGCGGAACCTTTTCTGCCCTGTCAAGTCATGTAGCTGAAGCACAACTCGAGTCACACTACTCAGTTGCAGGAAGCGGATTAATAAAGATGGAGAGGCAAAAATCACCCAAGTGAGGCTGGTGCCTCATATGTTTGATTGGAAATTTTAAATGTGACTAAATCTCTTTAAAGACTAATTATATTTAATGAAGTTTAATGTGAAGCCTAGCACTTTTCAGTAAATGTTCTAGCCTGCTATCCAATTACTTTCTTGGGAAGTCATTCCAGTTAGAGTCA... |
Task1_train_8949 | An alteration has been detected in FRG1 (FSHD region gene 1) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Pulmonary artery atresia | TTTTTTAAAACAAAATAATGTCTTTATATTTATAGCAAATGTCAAATTTATTTTCAAATGTTTTTTCTCCAATAGTTGATGAGGGCCCTAGTCCTCCAGAGCAGTTTACGGCTGTCAAATTATCTGATTCCAGGTGAGCTTATGTTGTAATATAATTAGTAACCAGTTATTTTAAAAATTTAATTGTATTCATTAAAAATTTTAGTATCTGTCTTAAGCCCACAGGGTAATTTTGATGTAAAAAACAAAATAGCTTTTTTGAAAAGTAGATTTTGTGATCTACTTTTAATGGATTTCCTATCAATATATAATGCTAGGCT... | TTTTTTAAAACAAAATAATGTCTTTATATTTATAGCAAATGTCAAATTTATTTTCAAATGTTTTTTCTCCAATAGTTGATGAGGGCCCTAGTCCTCCAGAGCAGTTTACGGCTGTCAAATTATCTGATTCCAGGTGAGCTTATGTTGTAATATAATTAGTAACCAGTTATTTTAAAAATTTAATTGTATTCATTAAAAATTTTAGTATCTGTCTTAAGCCCACAGGGTAATTTTGATGTAAAAAACAAAATAGCTTTTTTGAAAAGTAGATTTTGTGATCTACTTTTAATGGATTTCCTATCAATATATAATGCTAGGCT... |
Task1_train_8950 | Chromosome 5 houses a mutation in gene SDHA (succinate dehydrogenase complex flavoprotein subunit A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary cancer-predisposing syndrome | TTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCC... | TTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCC... |
Task1_train_8951 | An alteration has been detected in SDHA (succinate dehydrogenase complex flavoprotein subunit A) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Paragangliomas 5 | TTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCC... | TTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCC... |
Task1_train_8952 | Assess the clinical impact of this variant on gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Mitochondrial complex II deficiency, nuclear type 1 | TTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCC... | TTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCC... |
Task1_train_8953 | Given a variant located on Chromosome 5 and affecting SDHA (succinate dehydrogenase complex flavoprotein subunit A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Paragangliomas 5 | TTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCC... | TTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCC... |
Task1_train_8954 | A genomic change on Chromosome 5 affects SDHA (succinate dehydrogenase complex flavoprotein subunit A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Neurodegeneration with ataxia and late-onset optic atrophy | TTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCC... | TTACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCC... |
Task1_train_8955 | Gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Paragangliomas 5 | TACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCC... | TACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCC... |
Task1_train_8956 | Here is a variant affecting SDHA (succinate dehydrogenase complex flavoprotein subunit A) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Paragangliomas 5 | TACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCC... | TACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCC... |
Task1_train_8957 | This mutation is located in gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Mitochondrial complex II deficiency, nuclear type 1 | TACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCC... | TACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCC... |
Task1_train_8958 | With a mutation on Chromosome 5 in gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | TACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCC... | TACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCC... |
Task1_train_8959 | A variant affecting Chromosome 5, within the gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Paragangliomas 5 | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... |
Task1_train_8960 | Assess the clinical impact of this variant on gene SDHA (succinate dehydrogenase complex flavoprotein subunit A), found on Chromosome 5. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Mitochondrial complex II deficiency, nuclear type 1 | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... |
Task1_train_8961 | Given this context: Chromosome 5, gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Paragangliomas 5 | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... |
Task1_train_8962 | The gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... |
Task1_train_8963 | This sequence variant lies in SDHA (succinate dehydrogenase complex flavoprotein subunit A) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mitochondrial complex II deficiency, nuclear type 1 | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... |
Task1_train_8964 | A genetic alteration is present in SDHA (succinate dehydrogenase complex flavoprotein subunit A) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Paragangliomas 5 | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... |
Task1_train_8965 | Here is a genetic alteration in SDHA (succinate dehydrogenase complex flavoprotein subunit A) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Paragangliomas 5 | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... |
Task1_train_8966 | This alteration in SDHA (succinate dehydrogenase complex flavoprotein subunit A) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mitochondrial complex II deficiency, nuclear type 1 | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... |
Task1_train_8967 | The gene SDHA (succinate dehydrogenase complex flavoprotein subunit A) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... | ACAGGTATGAGCCACCACGCCCAGCCCACTGGTTTCCTTTACACCCGTTTTGTTCCCCAGCAGTCCTTATGAGGGCACCTGAAATAAGGAACCTCCTCCCCGACTTGAGAGCAGCAAAGCCTTCAGAGGGAACTAAGTTATTAAAACCCACCCCACACAAAATGCTTCTAAACGCCTTGGCTGACTTAATCCTTGCAGTGTGCTGAGGTTAAGTATGATTATCCATCTCCTGTGAACAGGAAGACTGAGGCTCAGAGCTTAAGTGATTTGCCCACGGTTCACTGCAGGGGATAAAACTCGGCTGTCCCTGGCAGGTCCCA... |
Task1_train_8968 | Here’s a variant in SDHA (succinate dehydrogenase complex flavoprotein subunit A) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mitochondrial complex II deficiency, nuclear type 1 | GCTTTTATCACTTTGCAAAACAAATAAAGGGGACACGTTGGGAACAGGCCCCCCAATGTGGCCATAAACTGTCCCCAAAACTGGCCATAAACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATAC... | GCTTTTATCACTTTGCAAAACAAATAAAGGGGACACGTTGGGAACAGGCCCCCCAATGTGGCCATAAACTGTCCCCAAAACTGGCCATAAACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATAC... |
Task1_train_8969 | A variant found in Chromosome 5 affects SDHA (succinate dehydrogenase complex flavoprotein subunit A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Paragangliomas 5 | GCTTTTATCACTTTGCAAAACAAATAAAGGGGACACGTTGGGAACAGGCCCCCCAATGTGGCCATAAACTGTCCCCAAAACTGGCCATAAACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATAC... | GCTTTTATCACTTTGCAAAACAAATAAAGGGGACACGTTGGGAACAGGCCCCCCAATGTGGCCATAAACTGTCCCCAAAACTGGCCATAAACAAAATCTCTGCAGCACTCTGACATGCTCTTGATGGCCATGATGCCCACGCTGGAAGGTTGTCGGTTTACTGGAATGAGGGCAAGGGACACCTGGCCCACCCAGGGTGGAAAACCGTTTAAGGCATTCTTAAACCACAAACAATAGCATGAGCGATCTGTGCCTTAAGGACATTTTCCTGCTGCAGATAACTAGCCAGAGCCCATCCTTTTGTTTCCCGTAAGGAATAC... |
Task1_train_8970 | With a mutation on Chromosome 5 in gene SLC9A3 (solute carrier family 9 member A3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital secretory sodium diarrhea 8 | GGGATGGCCCCTGGGAGGCCAAGGAGTCGGGGACTGGGTACCCGGAGCAGAGTCACTGTGGCCACGGAGAACCGCAGCTGAGCTTTATGAAGCCACGTGGCCACACCTCCCGGTGCCTCCACCCCAAGCAAACACAGATCGCTCAGAAAATGGGAACCCAGGGCAAATTGTATGTGCTCCTTACTGGGTTTATTATAAGTGTCACATGTTTTTTATAATAAAACATAGGTGATTTCACCTTAATGGACAAACTCTTTTTTTTATTTTGGGACGAAGTCTCGCTCTGTCACCAGGCTGGAATGTAATGGCGCAATCTCGGC... | GGGATGGCCCCTGGGAGGCCAAGGAGTCGGGGACTGGGTACCCGGAGCAGAGTCACTGTGGCCACGGAGAACCGCAGCTGAGCTTTATGAAGCCACGTGGCCACACCTCCCGGTGCCTCCACCCCAAGCAAACACAGATCGCTCAGAAAATGGGAACCCAGGGCAAATTGTATGTGCTCCTTACTGGGTTTATTATAAGTGTCACATGTTTTTTATAATAAAACATAGGTGATTTCACCTTAATGGACAAACTCTTTTTTTTATTTTGGGACGAAGTCTCGCTCTGTCACCAGGCTGGAATGTAATGGCGCAATCTCGGC... |
Task1_train_8971 | This mutation occurs in SLC9A3 (solute carrier family 9 member A3) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Congenital secretory sodium diarrhea 8 | TTATGACGTGGAGGAAATAATCTATTTGCCTTATTTTCAATTCCTACATAACAATTTGGAATTAATTGGGCCACATGAGAGGGCATCTCTATTCCCTGGAAGGAGCACAGAGAATTCAGCTCCTGTCCCCTCACTCGGTGGCCCCAACTGCTGCCGCCAACTCCTTTCCGCAGCACCTGCGTGTCTCGGGGCACACCTGGCACCTGGCCTCATGGGGCACCGGAGCCCTGACCAAGCCTGGACTCAAACAGTTGTTATGCATGTGGCTTCTGGTTCTTCCGAGTGGAGGATGTTTCCAGAAGCCGGGCTGTGCGACACCG... | TTATGACGTGGAGGAAATAATCTATTTGCCTTATTTTCAATTCCTACATAACAATTTGGAATTAATTGGGCCACATGAGAGGGCATCTCTATTCCCTGGAAGGAGCACAGAGAATTCAGCTCCTGTCCCCTCACTCGGTGGCCCCAACTGCTGCCGCCAACTCCTTTCCGCAGCACCTGCGTGTCTCGGGGCACACCTGGCACCTGGCCTCATGGGGCACCGGAGCCCTGACCAAGCCTGGACTCAAACAGTTGTTATGCATGTGGCTTCTGGTTCTTCCGAGTGGAGGATGTTTCCAGAAGCCGGGCTGTGCGACACCG... |
Task1_train_8972 | The gene SLC9A3 (solute carrier family 9 member A3) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital secretory sodium diarrhea 8 | CTTGTCCTGAAGTGCGGGCCCAGGCTCCCCTCGCGGGCGGGGCCGAGACCCCAGGGCTGGCTGGGCTGGGCCTCACCTGGAAGATGACGGTGAAGAACACTACGATGATGGTGGTGCTGACGAACAGGTTCTTCTCCTTGACCTTGTCTCCATCCAGAAGCACCACCAGGGCAAAGGCCACGGCCCCGCGCAGGCCCCCGTAGGACAGGACCACCTGGTCAATGGGCTCCAGCTGCACCATGCGGTAGCGGTTCAGAAGCCAGGTCTGCAGGACCACACCTGCGGATGATGGGGCGGGCACTCAGCTCCCCGGCCGCCCT... | CTTGTCCTGAAGTGCGGGCCCAGGCTCCCCTCGCGGGCGGGGCCGAGACCCCAGGGCTGGCTGGGCTGGGCCTCACCTGGAAGATGACGGTGAAGAACACTACGATGATGGTGGTGCTGACGAACAGGTTCTTCTCCTTGACCTTGTCTCCATCCAGAAGCACCACCAGGGCAAAGGCCACGGCCCCGCGCAGGCCCCCGTAGGACAGGACCACCTGGTCAATGGGCTCCAGCTGCACCATGCGGTAGCGGTTCAGAAGCCAGGTCTGCAGGACCACACCTGCGGATGATGGGGCGGGCACTCAGCTCCCCGGCCGCCCT... |
Task1_train_8973 | The gene SLC9A3 (solute carrier family 9 member A3) is located on Chromosome 5, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GTTCTTCTCCTTGACCTTGTCTCCATCCAGAAGCACCACCAGGGCAAAGGCCACGGCCCCGCGCAGGCCCCCGTAGGACAGGACCACCTGGTCAATGGGCTCCAGCTGCACCATGCGGTAGCGGTTCAGAAGCCAGGTCTGCAGGACCACACCTGCGGATGATGGGGCGGGCACTCAGCTCCCCGGCCGCCCTCCCAGCCGCGGGACCCCAGCCCCTCCGGGACAGCGTCTTGGCGGCCAAGCATGTGCTGACGAAGAACAGCGGCACCCTAGATACGGCGTCCCCACGCCACGTCCCTCGTCACCATCCACCCGGAGCC... | GTTCTTCTCCTTGACCTTGTCTCCATCCAGAAGCACCACCAGGGCAAAGGCCACGGCCCCGCGCAGGCCCCCGTAGGACAGGACCACCTGGTCAATGGGCTCCAGCTGCACCATGCGGTAGCGGTTCAGAAGCCAGGTCTGCAGGACCACACCTGCGGATGATGGGGCGGGCACTCAGCTCCCCGGCCGCCCTCCCAGCCGCGGGACCCCAGCCCCTCCGGGACAGCGTCTTGGCGGCCAAGCATGTGCTGACGAAGAACAGCGGCACCCTAGATACGGCGTCCCCACGCCACGTCCCTCGTCACCATCCACCCGGAGCC... |
Task1_train_8974 | A variant affecting Chromosome 5, within the gene TRIP13 (thyroid hormone receptor interactor 13), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Oocyte maturation defect 9 | GAGGCCCTGGAAATACCAGCTCTCCTCCCTCCCATGCTTCTCCCCAAAGCAACAGGACACGGTGCCGACCCCTCATTTACAACGATGAGCTGTGAACACCAGGAGAGTCTCTAAAAGTGCACCCTTGCCTGGCTGTGTCCGGCACGCTCGGACTGGCCGATCTGGGGGCGGCTCCACCTCCACCTTCTTCCCAGGATCAAAGTCGTCAGCCTCTCCCTCCGTGTCACAGTGCTCCCTCTCTCGCTTCCGCTTCTTCTCTTCCTGGGCGGCAGAGTCAAGGGAGTGAGAAAGGCAGGAGTAGGCGGGATCCGGACAGGTCT... | GAGGCCCTGGAAATACCAGCTCTCCTCCCTCCCATGCTTCTCCCCAAAGCAACAGGACACGGTGCCGACCCCTCATTTACAACGATGAGCTGTGAACACCAGGAGAGTCTCTAAAAGTGCACCCTTGCCTGGCTGTGTCCGGCACGCTCGGACTGGCCGATCTGGGGGCGGCTCCACCTCCACCTTCTTCCCAGGATCAAAGTCGTCAGCCTCTCCCTCCGTGTCACAGTGCTCCCTCTCTCGCTTCCGCTTCTTCTCTTCCTGGGCGGCAGAGTCAAGGGAGTGAGAAAGGCAGGAGTAGGCGGGATCCGGACAGGTCT... |
Task1_train_8975 | Here is a genetic alteration in TRIP13 (thyroid hormone receptor interactor 13) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mosaic variegated aneuploidy syndrome 3 | GAGGCCCTGGAAATACCAGCTCTCCTCCCTCCCATGCTTCTCCCCAAAGCAACAGGACACGGTGCCGACCCCTCATTTACAACGATGAGCTGTGAACACCAGGAGAGTCTCTAAAAGTGCACCCTTGCCTGGCTGTGTCCGGCACGCTCGGACTGGCCGATCTGGGGGCGGCTCCACCTCCACCTTCTTCCCAGGATCAAAGTCGTCAGCCTCTCCCTCCGTGTCACAGTGCTCCCTCTCTCGCTTCCGCTTCTTCTCTTCCTGGGCGGCAGAGTCAAGGGAGTGAGAAAGGCAGGAGTAGGCGGGATCCGGACAGGTCT... | GAGGCCCTGGAAATACCAGCTCTCCTCCCTCCCATGCTTCTCCCCAAAGCAACAGGACACGGTGCCGACCCCTCATTTACAACGATGAGCTGTGAACACCAGGAGAGTCTCTAAAAGTGCACCCTTGCCTGGCTGTGTCCGGCACGCTCGGACTGGCCGATCTGGGGGCGGCTCCACCTCCACCTTCTTCCCAGGATCAAAGTCGTCAGCCTCTCCCTCCGTGTCACAGTGCTCCCTCTCTCGCTTCCGCTTCTTCTCTTCCTGGGCGGCAGAGTCAAGGGAGTGAGAAAGGCAGGAGTAGGCGGGATCCGGACAGGTCT... |
Task1_train_8976 | Gene TRIP13 (thyroid hormone receptor interactor 13) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Oocyte maturation defect 9 | TGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTT... | TGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTT... |
Task1_train_8977 | This is a variant in TRIP13 (thyroid hormone receptor interactor 13), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Oocyte maturation defect 9 | TTCTCAGGAGAAAATACTGATGGTTTGTTGTTTGGTTTTGTTTTGTTTTGTTGTCAATATCACCGGGTAGAATGGGGACACGGGAATTGAGTGGACTCGAGAGTATGAAACTGTAGCCAAGTGTTAAATAGAAGCTTGAAGGGTACTTGGCTTCTTTAAGTCAGTTAAGATTGCGTGACAAAGTGACCTTAAAACACAATGTTCTTTTAAAGAGCAGACAGGCCCCGCATACTGCCCTCATAGCACAGTCAGAGTAAGCAGCAGGTGTTTTAATTAGTGAAATAAGTTGTTTCTGTTTGGAACCAGTTACGTATTTCCTC... | TTCTCAGGAGAAAATACTGATGGTTTGTTGTTTGGTTTTGTTTTGTTTTGTTGTCAATATCACCGGGTAGAATGGGGACACGGGAATTGAGTGGACTCGAGAGTATGAAACTGTAGCCAAGTGTTAAATAGAAGCTTGAAGGGTACTTGGCTTCTTTAAGTCAGTTAAGATTGCGTGACAAAGTGACCTTAAAACACAATGTTCTTTTAAAGAGCAGACAGGCCCCGCATACTGCCCTCATAGCACAGTCAGAGTAAGCAGCAGGTGTTTTAATTAGTGAAATAAGTTGTTTCTGTTTGGAACCAGTTACGTATTTCCTC... |
Task1_train_8978 | This variant affects gene TRIP13 (thyroid hormone receptor interactor 13) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Oocyte maturation defect 9 | AGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACAAAAAAATACAAAAAATTAGCTGGGAGCACATGCCTGTGGTCCCAGCTTCTTTTGAGGCTGAGGTGGGAGGATCACCTTAGCCCAGGAGGTCCAGGCTGTGGTGAGCCTGGGTGACGGGAGTGAGACCCTGCCTCCAAAGAGTAACCAAAAAAGATCTCTAGGGGCAGAGAGGGCAACACAAGAGAAGGAAAATGTTATTGTAAGGAATATAGCTTTTTCCAGTACAAAGATCTGGAAATATGCATTGGTTTTATGGCTTAGAAATGGCAAAA... | AGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACAAAAAAATACAAAAAATTAGCTGGGAGCACATGCCTGTGGTCCCAGCTTCTTTTGAGGCTGAGGTGGGAGGATCACCTTAGCCCAGGAGGTCCAGGCTGTGGTGAGCCTGGGTGACGGGAGTGAGACCCTGCCTCCAAAGAGTAACCAAAAAAGATCTCTAGGGGCAGAGAGGGCAACACAAGAGAAGGAAAATGTTATTGTAAGGAATATAGCTTTTTCCAGTACAAAGATCTGGAAATATGCATTGGTTTTATGGCTTAGAAATGGCAAAA... |
Task1_train_8979 | The following genetic variant occurs in TRIP13 (thyroid hormone receptor interactor 13) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | ATCGCTCATGCTATTGTCTGTGGCTTAAGAACGCCTTTAAGCGGTTTTCCACCCTGGGCGGGCCAGGTGTCCCTTGCCCTCATTCTGGTAAACCGACAACCTTCTAGTGTGGGCGTTATGGCCATCATGAACATGTCACAGTGCTGCAGAGATTTTGTTATGGCCAGTTTTGGGGCCAGTTTATGGCCAGATTTTGGGGGGCTTGTCCCCAACAAGTGTGCAGGTCCTGGAGGGGGGCCTCCCCTGCCTCTGGCTTCCTTCTCCTCTTGTCCACTTCCTTCCCCACCTGGCTTGTCTCTCAGTCTACTGCAATCTGGCTC... | ATCGCTCATGCTATTGTCTGTGGCTTAAGAACGCCTTTAAGCGGTTTTCCACCCTGGGCGGGCCAGGTGTCCCTTGCCCTCATTCTGGTAAACCGACAACCTTCTAGTGTGGGCGTTATGGCCATCATGAACATGTCACAGTGCTGCAGAGATTTTGTTATGGCCAGTTTTGGGGCCAGTTTATGGCCAGATTTTGGGGGGCTTGTCCCCAACAAGTGTGCAGGTCCTGGAGGGGGGCCTCCCCTGCCTCTGGCTTCCTTCTCCTCTTGTCCACTTCCTTCCCCACCTGGCTTGTCTCTCAGTCTACTGCAATCTGGCTC... |
Task1_train_8980 | Consider this mutation in SLC6A19 (solute carrier family 6 member 19) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Neutral 1 amino acid transport defect | GGCAGAGCGAGCCATTTCCGCACCAGCTGGAGCCAGGCAGAGGGCTCCGCGGCCTCTCCCGACCCTGTGCCACCAACTGTAGGAGGCCTCCAAGTGCAGGATGCGCAGGCAGGAGGGGCCCAACAGGGCCGTCTGGTCTAAATGTCTTTTAAAAGCAACTTTAGTGAGTTATAATTATGCACCATGAAATTCGCCCACTTCCAGTGCCTTGCACAGCCATGTGCAGCACCCCCGTCCACGCCCGCAAGCTTTCCGTGTGCTGTTGCTCCCCACCCCTGGCAGCCCCAGGCACCCCCTCTGCTGCTCTGCCCACCTGCCTT... | GGCAGAGCGAGCCATTTCCGCACCAGCTGGAGCCAGGCAGAGGGCTCCGCGGCCTCTCCCGACCCTGTGCCACCAACTGTAGGAGGCCTCCAAGTGCAGGATGCGCAGGCAGGAGGGGCCCAACAGGGCCGTCTGGTCTAAATGTCTTTTAAAAGCAACTTTAGTGAGTTATAATTATGCACCATGAAATTCGCCCACTTCCAGTGCCTTGCACAGCCATGTGCAGCACCCCCGTCCACGCCCGCAAGCTTTCCGTGTGCTGTTGCTCCCCACCCCTGGCAGCCCCAGGCACCCCCTCTGCTGCTCTGCCCACCTGCCTT... |
Task1_train_8981 | Consider a variant on Chromosome 5 in gene TERT (telomerase reverse transcriptase). Determine its clinical classification and disease relevance. | Pathogenic; Dyskeratosis congenita, autosomal dominant 2 | CTTCTCAGGGTCTCCACCTGGATGGTGGGGGTGGAAGGCAAAGGAGGGCAGGGCGAGGGGTGAACAATGGCGAATCTGGGGATGGACTATTCCTATGTGGGGAGTGGAAGCCGGGCTCCTGGTGAGGAAAAGCTGGCCCTGGGGTGGAGCCGAGCGCCAGCCTGTGGGGAAGTGAAGACGGCAGGTGTGCTGGACACTCAGCCCTTGGCTGGACACTCGCTCAGGCCTCAGCCGGACACTCAGCCTTCAGCCGGACATGCAGGCCTCGGCCAAACACTCACTCAGGCCTCAGACTCCCAGCGGTGCGGGCCTGGGTGTGG... | CTTCTCAGGGTCTCCACCTGGATGGTGGGGGTGGAAGGCAAAGGAGGGCAGGGCGAGGGGTGAACAATGGCGAATCTGGGGATGGACTATTCCTATGTGGGGAGTGGAAGCCGGGCTCCTGGTGAGGAAAAGCTGGCCCTGGGGTGGAGCCGAGCGCCAGCCTGTGGGGAAGTGAAGACGGCAGGTGTGCTGGACACTCAGCCCTTGGCTGGACACTCGCTCAGGCCTCAGCCGGACACTCAGCCTTCAGCCGGACATGCAGGCCTCGGCCAAACACTCACTCAGGCCTCAGACTCCCAGCGGTGCGGGCCTGGGTGTGG... |
Task1_train_8982 | Here’s a variant in TERT (telomerase reverse transcriptase) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Dyskeratosis congenita | TCAGTTCTGACCACATTCTACCATCTGAGCTGTGGTTTGGGAGACTAAAATCTGGACAAGAAAATTCCCATCTTACCACTTTTCCTTTTTCACTTTTCTTAATCATTTTGCCTGTTTTCTTCTCCCAGATGCCCTTCAAGCCTCTGCTGTATACTTCAGACACAGAGGATGTGAGTTCACCCTGAGTATGGCGAACCACTGCCTCCACTGCTGAGCTTTTAGAGCCACCTCTGCAAGCACACACTCTGACCAAGTGGCCTTTGGGAGCACAGAATATTCTGGCATTGGACCCACATCTGATGACCTGATGCCCACCCATC... | TCAGTTCTGACCACATTCTACCATCTGAGCTGTGGTTTGGGAGACTAAAATCTGGACAAGAAAATTCCCATCTTACCACTTTTCCTTTTTCACTTTTCTTAATCATTTTGCCTGTTTTCTTCTCCCAGATGCCCTTCAAGCCTCTGCTGTATACTTCAGACACAGAGGATGTGAGTTCACCCTGAGTATGGCGAACCACTGCCTCCACTGCTGAGCTTTTAGAGCCACCTCTGCAAGCACACACTCTGACCAAGTGGCCTTTGGGAGCACAGAATATTCTGGCATTGGACCCACATCTGATGACCTGATGCCCACCCATC... |
Task1_train_8983 | The gene TERT (telomerase reverse transcriptase) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Dyskeratosis congenita, autosomal dominant 2 | TTCTTCTCCCAGATGCCCTTCAAGCCTCTGCTGTATACTTCAGACACAGAGGATGTGAGTTCACCCTGAGTATGGCGAACCACTGCCTCCACTGCTGAGCTTTTAGAGCCACCTCTGCAAGCACACACTCTGACCAAGTGGCCTTTGGGAGCACAGAATATTCTGGCATTGGACCCACATCTGATGACCTGATGCCCACCCATCCTGCACTAGCCTCTGTGGCTTTGCAATGTGTTTAGAGAGAACCCATTTTCCTGATTTGTTTGTCTGTCCTTTGTCCTTCAATAACATTCACTGATGCTGTGCCAGAGGCTGGAACC... | TTCTTCTCCCAGATGCCCTTCAAGCCTCTGCTGTATACTTCAGACACAGAGGATGTGAGTTCACCCTGAGTATGGCGAACCACTGCCTCCACTGCTGAGCTTTTAGAGCCACCTCTGCAAGCACACACTCTGACCAAGTGGCCTTTGGGAGCACAGAATATTCTGGCATTGGACCCACATCTGATGACCTGATGCCCACCCATCCTGCACTAGCCTCTGTGGCTTTGCAATGTGTTTAGAGAGAACCCATTTTCCTGATTTGTTTGTCTGTCCTTTGTCCTTCAATAACATTCACTGATGCTGTGCCAGAGGCTGGAACC... |
Task1_train_8984 | Mutation context: Chromosome 5, Gene TERT (telomerase reverse transcriptase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Dyskeratosis congenita, autosomal dominant 2 | CTTCAAGCCTCTGCTGTATACTTCAGACACAGAGGATGTGAGTTCACCCTGAGTATGGCGAACCACTGCCTCCACTGCTGAGCTTTTAGAGCCACCTCTGCAAGCACACACTCTGACCAAGTGGCCTTTGGGAGCACAGAATATTCTGGCATTGGACCCACATCTGATGACCTGATGCCCACCCATCCTGCACTAGCCTCTGTGGCTTTGCAATGTGTTTAGAGAGAACCCATTTTCCTGATTTGTTTGTCTGTCCTTTGTCCTTCAATAACATTCACTGATGCTGTGCCAGAGGCTGGAACCAGGGGTGCCTGTCCTAA... | CTTCAAGCCTCTGCTGTATACTTCAGACACAGAGGATGTGAGTTCACCCTGAGTATGGCGAACCACTGCCTCCACTGCTGAGCTTTTAGAGCCACCTCTGCAAGCACACACTCTGACCAAGTGGCCTTTGGGAGCACAGAATATTCTGGCATTGGACCCACATCTGATGACCTGATGCCCACCCATCCTGCACTAGCCTCTGTGGCTTTGCAATGTGTTTAGAGAGAACCCATTTTCCTGATTTGTTTGTCTGTCCTTTGTCCTTCAATAACATTCACTGATGCTGTGCCAGAGGCTGGAACCAGGGGTGCCTGTCCTAA... |
Task1_train_8985 | This variant impacts the gene TERT (telomerase reverse transcriptase) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | TTCAAGCCTCTGCTGTATACTTCAGACACAGAGGATGTGAGTTCACCCTGAGTATGGCGAACCACTGCCTCCACTGCTGAGCTTTTAGAGCCACCTCTGCAAGCACACACTCTGACCAAGTGGCCTTTGGGAGCACAGAATATTCTGGCATTGGACCCACATCTGATGACCTGATGCCCACCCATCCTGCACTAGCCTCTGTGGCTTTGCAATGTGTTTAGAGAGAACCCATTTTCCTGATTTGTTTGTCTGTCCTTTGTCCTTCAATAACATTCACTGATGCTGTGCCAGAGGCTGGAACCAGGGGTGCCTGTCCTAAA... | TTCAAGCCTCTGCTGTATACTTCAGACACAGAGGATGTGAGTTCACCCTGAGTATGGCGAACCACTGCCTCCACTGCTGAGCTTTTAGAGCCACCTCTGCAAGCACACACTCTGACCAAGTGGCCTTTGGGAGCACAGAATATTCTGGCATTGGACCCACATCTGATGACCTGATGCCCACCCATCCTGCACTAGCCTCTGTGGCTTTGCAATGTGTTTAGAGAGAACCCATTTTCCTGATTTGTTTGTCTGTCCTTTGTCCTTCAATAACATTCACTGATGCTGTGCCAGAGGCTGGAACCAGGGGTGCCTGTCCTAAA... |
Task1_train_8986 | The variant affects gene TERT (telomerase reverse transcriptase), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Idiopathic Pulmonary Fibrosis | AATAAATATTATAATTGCTGATACCATTAGTGATTACTTATAATGCAATAATTAATAGTTATATTTTTAAATAAAAGCTTCCGAAGCTGTGCACAGTCCTTTATCCGCTGGAGACGATCCCAGAGAGAGGCCTCCACGTTCCACCTGACTGCGGATGACCTTGCTGATGACCTTGAGTGTGCACGAATTTCCTCCGTGCTACCACTCTCCCCAGGCACACACAGGGTCGCAGGCAGATGCCTGCCGGGAGGTGTGTGGTTTTACTTAAAATCCAGAGGACGTGATGTGGCACCAGGCACTGTGGCTCTACCACCGTGAGT... | AATAAATATTATAATTGCTGATACCATTAGTGATTACTTATAATGCAATAATTAATAGTTATATTTTTAAATAAAAGCTTCCGAAGCTGTGCACAGTCCTTTATCCGCTGGAGACGATCCCAGAGAGAGGCCTCCACGTTCCACCTGACTGCGGATGACCTTGCTGATGACCTTGAGTGTGCACGAATTTCCTCCGTGCTACCACTCTCCCCAGGCACACACAGGGTCGCAGGCAGATGCCTGCCGGGAGGTGTGTGGTTTTACTTAAAATCCAGAGGACGTGATGTGGCACCAGGCACTGTGGCTCTACCACCGTGAGT... |
Task1_train_8987 | This alteration occurs within gene TERT (telomerase reverse transcriptase) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Dyskeratosis congenita, autosomal dominant 2 | AATAAATATTATAATTGCTGATACCATTAGTGATTACTTATAATGCAATAATTAATAGTTATATTTTTAAATAAAAGCTTCCGAAGCTGTGCACAGTCCTTTATCCGCTGGAGACGATCCCAGAGAGAGGCCTCCACGTTCCACCTGACTGCGGATGACCTTGCTGATGACCTTGAGTGTGCACGAATTTCCTCCGTGCTACCACTCTCCCCAGGCACACACAGGGTCGCAGGCAGATGCCTGCCGGGAGGTGTGTGGTTTTACTTAAAATCCAGAGGACGTGATGTGGCACCAGGCACTGTGGCTCTACCACCGTGAGT... | AATAAATATTATAATTGCTGATACCATTAGTGATTACTTATAATGCAATAATTAATAGTTATATTTTTAAATAAAAGCTTCCGAAGCTGTGCACAGTCCTTTATCCGCTGGAGACGATCCCAGAGAGAGGCCTCCACGTTCCACCTGACTGCGGATGACCTTGCTGATGACCTTGAGTGTGCACGAATTTCCTCCGTGCTACCACTCTCCCCAGGCACACACAGGGTCGCAGGCAGATGCCTGCCGGGAGGTGTGTGGTTTTACTTAAAATCCAGAGGACGTGATGTGGCACCAGGCACTGTGGCTCTACCACCGTGAGT... |
Task1_train_8988 | Here’s a variant in TERT (telomerase reverse transcriptase) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Dyskeratosis congenita, autosomal dominant 2 | AGTAAAGACTGTTCTAAAAGGAGGCGCAGAAGCAACGTCACCACAACCTCAATACCTTGAGTTCCTGCAGAGAACACAAACAGCTTTAGCCACAAACAGCTGATAAAGTGGACTGCGTTACTGGACTGTGTTAGTGGACTGCGATAGAAGTACAATCTTCCAGTCCTCAAAAGGCTTGACTTGAGAGCACAAAAGCAAGACACACACGGCACAGAGATTCACAGTGCACGCATGTGATGCCACACTTGCAGCAGAACACACAAAGAGCTCCTGCAAGCCGATGATGGCAGGCAGGCGCCCCATACAGAGCGGGGCAGGAC... | AGTAAAGACTGTTCTAAAAGGAGGCGCAGAAGCAACGTCACCACAACCTCAATACCTTGAGTTCCTGCAGAGAACACAAACAGCTTTAGCCACAAACAGCTGATAAAGTGGACTGCGTTACTGGACTGTGTTAGTGGACTGCGATAGAAGTACAATCTTCCAGTCCTCAAAAGGCTTGACTTGAGAGCACAAAAGCAAGACACACACGGCACAGAGATTCACAGTGCACGCATGTGATGCCACACTTGCAGCAGAACACACAAAGAGCTCCTGCAAGCCGATGATGGCAGGCAGGCGCCCCATACAGAGCGGGGCAGGAC... |
Task1_train_8989 | A variant has been detected on Chromosome 5 in TERT (telomerase reverse transcriptase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Idiopathic Pulmonary Fibrosis | AGTAAAGACTGTTCTAAAAGGAGGCGCAGAAGCAACGTCACCACAACCTCAATACCTTGAGTTCCTGCAGAGAACACAAACAGCTTTAGCCACAAACAGCTGATAAAGTGGACTGCGTTACTGGACTGTGTTAGTGGACTGCGATAGAAGTACAATCTTCCAGTCCTCAAAAGGCTTGACTTGAGAGCACAAAAGCAAGACACACACGGCACAGAGATTCACAGTGCACGCATGTGATGCCACACTTGCAGCAGAACACACAAAGAGCTCCTGCAAGCCGATGATGGCAGGCAGGCGCCCCATACAGAGCGGGGCAGGAC... | AGTAAAGACTGTTCTAAAAGGAGGCGCAGAAGCAACGTCACCACAACCTCAATACCTTGAGTTCCTGCAGAGAACACAAACAGCTTTAGCCACAAACAGCTGATAAAGTGGACTGCGTTACTGGACTGTGTTAGTGGACTGCGATAGAAGTACAATCTTCCAGTCCTCAAAAGGCTTGACTTGAGAGCACAAAAGCAAGACACACACGGCACAGAGATTCACAGTGCACGCATGTGATGCCACACTTGCAGCAGAACACACAAAGAGCTCCTGCAAGCCGATGATGGCAGGCAGGCGCCCCATACAGAGCGGGGCAGGAC... |
Task1_train_8990 | A variant was discovered on Chromosome 5, affecting TERT (telomerase reverse transcriptase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Dyskeratosis congenita, autosomal dominant 2 | AGTAAAGACTGTTCTAAAAGGAGGCGCAGAAGCAACGTCACCACAACCTCAATACCTTGAGTTCCTGCAGAGAACACAAACAGCTTTAGCCACAAACAGCTGATAAAGTGGACTGCGTTACTGGACTGTGTTAGTGGACTGCGATAGAAGTACAATCTTCCAGTCCTCAAAAGGCTTGACTTGAGAGCACAAAAGCAAGACACACACGGCACAGAGATTCACAGTGCACGCATGTGATGCCACACTTGCAGCAGAACACACAAAGAGCTCCTGCAAGCCGATGATGGCAGGCAGGCGCCCCATACAGAGCGGGGCAGGAC... | AGTAAAGACTGTTCTAAAAGGAGGCGCAGAAGCAACGTCACCACAACCTCAATACCTTGAGTTCCTGCAGAGAACACAAACAGCTTTAGCCACAAACAGCTGATAAAGTGGACTGCGTTACTGGACTGTGTTAGTGGACTGCGATAGAAGTACAATCTTCCAGTCCTCAAAAGGCTTGACTTGAGAGCACAAAAGCAAGACACACACGGCACAGAGATTCACAGTGCACGCATGTGATGCCACACTTGCAGCAGAACACACAAAGAGCTCCTGCAAGCCGATGATGGCAGGCAGGCGCCCCATACAGAGCGGGGCAGGAC... |
Task1_train_8991 | This alteration in TERT (telomerase reverse transcriptase) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | AGTAAAGACTGTTCTAAAAGGAGGCGCAGAAGCAACGTCACCACAACCTCAATACCTTGAGTTCCTGCAGAGAACACAAACAGCTTTAGCCACAAACAGCTGATAAAGTGGACTGCGTTACTGGACTGTGTTAGTGGACTGCGATAGAAGTACAATCTTCCAGTCCTCAAAAGGCTTGACTTGAGAGCACAAAAGCAAGACACACACGGCACAGAGATTCACAGTGCACGCATGTGATGCCACACTTGCAGCAGAACACACAAAGAGCTCCTGCAAGCCGATGATGGCAGGCAGGCGCCCCATACAGAGCGGGGCAGGAC... | AGTAAAGACTGTTCTAAAAGGAGGCGCAGAAGCAACGTCACCACAACCTCAATACCTTGAGTTCCTGCAGAGAACACAAACAGCTTTAGCCACAAACAGCTGATAAAGTGGACTGCGTTACTGGACTGTGTTAGTGGACTGCGATAGAAGTACAATCTTCCAGTCCTCAAAAGGCTTGACTTGAGAGCACAAAAGCAAGACACACACGGCACAGAGATTCACAGTGCACGCATGTGATGCCACACTTGCAGCAGAACACACAAAGAGCTCCTGCAAGCCGATGATGGCAGGCAGGCGCCCCATACAGAGCGGGGCAGGAC... |
Task1_train_8992 | A variant affecting Chromosome 5, within the gene TERT (telomerase reverse transcriptase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hepatocellular carcinoma | GCACCCAGGAGCCTCCACAGCAGCGGGAAGGATACATCCACGTGGCGAGTTCCACAACGGATGCCATTCATGGACAGAACGCACAGCTGAGGCGTTCAGCATAGCTGAGGCTCGAACCCCAAAACCCACCTCCTGCCTGATCTCACTCACATGGAGACCGGGAGAGGGAGACCATGGAGGTCGAGGTCGGAACGAGGGTCACGGTGGGGGCGGTAGCTTCCGCTGCAGCGGGGATGTGGGGGGGGGTCTCCTGGGCTCTGGTGACTTTCTACACCCGGGCACAGGTGGGCGGTGGGGACGGGGGGGTCTCCTGGGCTCTA... | GCACCCAGGAGCCTCCACAGCAGCGGGAAGGATACATCCACGTGGCGAGTTCCACAACGGATGCCATTCATGGACAGAACGCACAGCTGAGGCGTTCAGCATAGCTGAGGCTCGAACCCCAAAACCCACCTCCTGCCTGATCTCACTCACATGGAGACCGGGAGAGGGAGACCATGGAGGTCGAGGTCGGAACGAGGGTCACGGTGGGGGCGGTAGCTTCCGCTGCAGCGGGGATGTGGGGGGGGGTCTCCTGGGCTCTGGTGACTTTCTACACCCGGGCACAGGTGGGCGGTGGGGACGGGGGGGTCTCCTGGGCTCTA... |
Task1_train_8993 | Gene TERT (telomerase reverse transcriptase), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Dyskeratosis congenita, autosomal dominant 2 | CATGCTAGAAGTGAGGACCCTGAATGTGGAGCTCCCCAAACCAGCACCCGAGAGCGTGAGGACAATGGTGCGGACCATGCCTGGAGGAGGAAGGAGTAAGGCCAAGGGGCCACACACACCCATGCCATAGACACGCATATGTCACGGACACATGCACACACACACACCACAAATAGGCACATCACAGACATGCAGCACACAGCATGAACATGCACGTGTCACAGACACACACACATGCACACCACAGGCACACACACCATGGACACACACGTGCCACACACACACACACCACAAATATGCACGCCACAGATACATGCACC... | CATGCTAGAAGTGAGGACCCTGAATGTGGAGCTCCCCAAACCAGCACCCGAGAGCGTGAGGACAATGGTGCGGACCATGCCTGGAGGAGGAAGGAGTAAGGCCAAGGGGCCACACACACCCATGCCATAGACACGCATATGTCACGGACACATGCACACACACACACCACAAATAGGCACATCACAGACATGCAGCACACAGCATGAACATGCACGTGTCACAGACACACACACATGCACACCACAGGCACACACACCATGGACACACACGTGCCACACACACACACACCACAAATATGCACGCCACAGATACATGCACC... |
Task1_train_8994 | With a mutation on Chromosome 5 in gene TERT (telomerase reverse transcriptase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Idiopathic Pulmonary Fibrosis | CATGCTAGAAGTGAGGACCCTGAATGTGGAGCTCCCCAAACCAGCACCCGAGAGCGTGAGGACAATGGTGCGGACCATGCCTGGAGGAGGAAGGAGTAAGGCCAAGGGGCCACACACACCCATGCCATAGACACGCATATGTCACGGACACATGCACACACACACACCACAAATAGGCACATCACAGACATGCAGCACACAGCATGAACATGCACGTGTCACAGACACACACACATGCACACCACAGGCACACACACCATGGACACACACGTGCCACACACACACACACCACAAATATGCACGCCACAGATACATGCACC... | CATGCTAGAAGTGAGGACCCTGAATGTGGAGCTCCCCAAACCAGCACCCGAGAGCGTGAGGACAATGGTGCGGACCATGCCTGGAGGAGGAAGGAGTAAGGCCAAGGGGCCACACACACCCATGCCATAGACACGCATATGTCACGGACACATGCACACACACACACCACAAATAGGCACATCACAGACATGCAGCACACAGCATGAACATGCACGTGTCACAGACACACACACATGCACACCACAGGCACACACACCATGGACACACACGTGCCACACACACACACACCACAAATATGCACGCCACAGATACATGCACC... |
Task1_train_8995 | This alteration in TERT (telomerase reverse transcriptase) on Chromosome 5 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Dyskeratosis congenita | CATGCTAGAAGTGAGGACCCTGAATGTGGAGCTCCCCAAACCAGCACCCGAGAGCGTGAGGACAATGGTGCGGACCATGCCTGGAGGAGGAAGGAGTAAGGCCAAGGGGCCACACACACCCATGCCATAGACACGCATATGTCACGGACACATGCACACACACACACCACAAATAGGCACATCACAGACATGCAGCACACAGCATGAACATGCACGTGTCACAGACACACACACATGCACACCACAGGCACACACACCATGGACACACACGTGCCACACACACACACACCACAAATATGCACGCCACAGATACATGCACC... | CATGCTAGAAGTGAGGACCCTGAATGTGGAGCTCCCCAAACCAGCACCCGAGAGCGTGAGGACAATGGTGCGGACCATGCCTGGAGGAGGAAGGAGTAAGGCCAAGGGGCCACACACACCCATGCCATAGACACGCATATGTCACGGACACATGCACACACACACACCACAAATAGGCACATCACAGACATGCAGCACACAGCATGAACATGCACGTGTCACAGACACACACACATGCACACCACAGGCACACACACCATGGACACACACGTGCCACACACACACACACCACAAATATGCACGCCACAGATACATGCACC... |
Task1_train_8996 | Here is a genetic alteration in TERT (telomerase reverse transcriptase) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Dyskeratosis congenita, autosomal dominant 2 | CATGCTAGAAGTGAGGACCCTGAATGTGGAGCTCCCCAAACCAGCACCCGAGAGCGTGAGGACAATGGTGCGGACCATGCCTGGAGGAGGAAGGAGTAAGGCCAAGGGGCCACACACACCCATGCCATAGACACGCATATGTCACGGACACATGCACACACACACACCACAAATAGGCACATCACAGACATGCAGCACACAGCATGAACATGCACGTGTCACAGACACACACACATGCACACCACAGGCACACACACCATGGACACACACGTGCCACACACACACACACCACAAATATGCACGCCACAGATACATGCACC... | CATGCTAGAAGTGAGGACCCTGAATGTGGAGCTCCCCAAACCAGCACCCGAGAGCGTGAGGACAATGGTGCGGACCATGCCTGGAGGAGGAAGGAGTAAGGCCAAGGGGCCACACACACCCATGCCATAGACACGCATATGTCACGGACACATGCACACACACACACCACAAATAGGCACATCACAGACATGCAGCACACAGCATGAACATGCACGTGTCACAGACACACACACATGCACACCACAGGCACACACACCATGGACACACACGTGCCACACACACACACACCACAAATATGCACGCCACAGATACATGCACC... |
Task1_train_8997 | This variant lies on Chromosome 5 and affects the gene TERT (telomerase reverse transcriptase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | CATGCTAGAAGTGAGGACCCTGAATGTGGAGCTCCCCAAACCAGCACCCGAGAGCGTGAGGACAATGGTGCGGACCATGCCTGGAGGAGGAAGGAGTAAGGCCAAGGGGCCACACACACCCATGCCATAGACACGCATATGTCACGGACACATGCACACACACACACCACAAATAGGCACATCACAGACATGCAGCACACAGCATGAACATGCACGTGTCACAGACACACACACATGCACACCACAGGCACACACACCATGGACACACACGTGCCACACACACACACACCACAAATATGCACGCCACAGATACATGCACC... | CATGCTAGAAGTGAGGACCCTGAATGTGGAGCTCCCCAAACCAGCACCCGAGAGCGTGAGGACAATGGTGCGGACCATGCCTGGAGGAGGAAGGAGTAAGGCCAAGGGGCCACACACACCCATGCCATAGACACGCATATGTCACGGACACATGCACACACACACACCACAAATAGGCACATCACAGACATGCAGCACACAGCATGAACATGCACGTGTCACAGACACACACACATGCACACCACAGGCACACACACCATGGACACACACGTGCCACACACACACACACCACAAATATGCACGCCACAGATACATGCACC... |
Task1_train_8998 | With a mutation on Chromosome 5 in gene TERT (telomerase reverse transcriptase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not specified | TGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTACACCTGAGAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGGCCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACACCTGGGGGCAACGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACCACGCC... | TGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTACACCTGAGAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGGCCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACACCTGGGGGCAACGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACCACGCC... |
Task1_train_8999 | This variant lies on Chromosome 5 and affects the gene TERT (telomerase reverse transcriptase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Inherited Immunodeficiency Diseases | TGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTACACCTGAGAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGGCCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACACCTGGGGGCAACGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACCACGCC... | TGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTACACCTGAGAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGGCCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTACACGTGACAGGGACACCTGGGGGCAACGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACCACGCC... |
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