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_23200 | This mutation occurs in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Lissencephaly due to LIS1 mutation | AAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCA... | AAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCA... |
Task1_train_23201 | Given a variant located on Chromosome 17 and affecting PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lissencephaly due to LIS1 mutation | AAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAG... | AAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAG... |
Task1_train_23202 | The gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Lissencephaly due to LIS1 mutation | ATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAG... | ATGCCTGTAATCCCAGCTACTTGGGAAGGCTGAGGCAGGCAAATCACTTTAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAAGAGTGAAACCATCTCAAAAAAAAAAAAAAAAAAACCCGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCTTGAGAATCGTTTGCACCTGGGAGACGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCCCTCCATCCTGGGCAGTGAAGTAAGACTCTGTCTCCAGGAAAAAAAAAGAAAAGAAACAAG... |
Task1_train_23203 | This genomic variant is located on Chromosome 17, within the PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Lissencephaly due to LIS1 mutation | TGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCT... | TGAATGCCTGTATATCCTTCACTTAGTTACCATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCT... |
Task1_train_23204 | A variant affecting Chromosome 17, within the gene PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Lissencephaly due to LIS1 mutation | ATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAAT... | ATTTGTTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAAT... |
Task1_train_23205 | Here’s a variant in PAFAH1B1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Lissencephaly due to LIS1 mutation | TTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCT... | TTGGTTTTCCTTCATGTATGTGTGTATATTTTGCTGAAATCATTTGAGCGTTCTTTGCAGACATCGTAACACTTTACCCCCAAGTATTTTAGCATGAACCACCTAAGAACAAGGATAGTATATAAATAACCAAAATAAAATTATTCACACTCAAGAAATTTACCATTGATAGACTACATATTGAGATTTGTTCTTGTTATTTCCATAATGCCCTGCGGGACTTCTTTTTAACCCTCATCCAGGACCCAGTCAGGGATCGTACGTTATATTCACTCCTCATGTCTTATGAGTTTTCAGTTTCCTTTAATCTAGAATCCCCT... |
Task1_train_23206 | A variant found in Chromosome 17 affects ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Spongy degeneration of central nervous system | TGGGAAATAATTGCTGCAATTCATTAACTCTCAAAAAAGTTATTCATTTTGACATGTAAGAGAAACTTTATTTATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTT... | TGGGAAATAATTGCTGCAATTCATTAACTCTCAAAAAAGTTATTCATTTTGACATGTAAGAGAAACTTTATTTATGAATGTGAAATGTGCTTCAAAGTGCTGATCTGTTAAAATTCCATAAAACAAGCTTCAAAATGCAAGTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTT... |
Task1_train_23207 | A variant found in Chromosome 17 affects ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Inborn genetic diseases | GTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCCTACAGGAGCTTTTTTTTTCTATTAGAACAGTCATTTTAATGCATAGATTTGATGTGGTTATTTTGCTT... | GTCATTTGTGCCAGCTACGAGTAAATAACTGAAGCAGCATTTCCAGAGAGACTAGGGCAAAGGACAGAACAAACTACAAATCAGCAGAAAAGAAACCAAGCATAGTAGAGTGTTAATAATTCACCATGGTTACTGCTCTTAAAACCAAAGCAACTAAACAACTGTCATCTGTTTACTTTTACGTGTGTTTTCATCATCTCTACACCGTCTGAAGTGTTCAGTGTACATGGATGTGGACAGACAGTCAAAGCCTACAGGAGCTTTTTTTTTCTATTAGAACAGTCATTTTAATGCATAGATTTGATGTGGTTATTTTGCTT... |
Task1_train_23208 | A variant found in Chromosome 17 affects ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Spongy degeneration of central nervous system | TCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATTTGAGAATGGAAGAAAAACTACT... | TCTACCTTCCCAGTGCACTATCTCAAGATGCCGGCTTTGTCCTCATGGTTTTTGCTTCAAAGTCACAAAATAACTACTCCACCTTCCTGATCTCATTCCAGGCAGGAATTAGCCCATTGTACACAGTAGGTCCCTTGAAGATACTAGCAAAAATAACCAAGGAATACAAATAGATGGAATTTTAGGAAAATGTGGTTGAACGGTTTAATGAGGAAAAGTAAATGAAAAACATTATTATATCTAGAAAAAAAATGTATCTTAACCATTGTGGGAAGTGGGGAGAGGGTAGAGGCCCATTTGAGAATGGAAGAAAAACTACT... |
Task1_train_23209 | Given this variant in gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spongy degeneration of central nervous system | TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATG... | TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATG... |
Task1_train_23210 | Given this context: Chromosome 17, gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Mild Canavan disease | TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATG... | TATGTTTATATTATCTCAGGCACAGATGTTGTTCATCTTTTTCTTTCTGCTTATAACAGCAAAAAAATGTCAGAAGATTTGCCATATGAAGTGAGAAGGGCTCAAGAAATAAATCATTTATTTGGTCCAAAAGACAGTGAAGATTCCTATGACATTATTTTTGACCTTCACAACACCACCTCTAACATGGGGTGCACTCTTATTCTTGAGGATTCCAGGAATAACTTTTTAATTCAGATGTTTCATTACATTAAGGTAATGTTAATGTTATTAATTTATAAGTTAGCAAAGGACTTGTACTTTTAAGTCAATTATGGATG... |
Task1_train_23211 | This alteration occurs within gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Spongy degeneration of central nervous system | GCAAAATTTGTATGCAGCAATATTCTTAGTGTATTATAAAATGTTGACTCAGAAAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTT... | GCAAAATTTGTATGCAGCAATATTCTTAGTGTATTATAAAATGTTGACTCAGAAAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTT... |
Task1_train_23212 | Chromosome 17 houses a mutation in gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Spongy degeneration of central nervous system | AAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCTAAG... | AAGATTGTCTCTCTAATGTTAAACATGCTTTTTTCCCAGTGAGTGCATGATATAAAATATTCCAAATAAAACAGCAAAGTTGGAAGGAGAACATATAACATTTCTAATTATTTACAATGAGCTTAATACTCCCTCATATTGAAATATTTTAAAGATTTGGCTCAACTTGTAAGGGCCAAACATATCAGCAATGTTTGTTCTGGCTAAGAGTAGCATTGCCTACAAATATCATAGCCTAAGATTGATATTTGAGAGTTTGGAAATCTTAAGCTTTTATTTGGTGTCACAGAGAAACAGGATCTGTATCTCTTATTGCTAAG... |
Task1_train_23213 | Here is a mutation in ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Spongy degeneration of central nervous system | TGTGTTCTATCAGTTTTTACTTTCTTCCTATCCAACTTTTTGGTTTAAAGAAATGAGATCTGGTAAGTTCCCATCTTCATCTTGGAAGGTGTGGTAGATTTTAATTCTTCCCTTTCCCGCGTCCACATCCTGGCAGTGTGATGTTTCATATCCTTCTGTTCAGAGATAGAGTCTATTTTTCCACTTCTGGAATAGCTGGCTTGCCCATGTGAATTGTTTTGTGCCATAGAAGAGGCTTGAAAAGCACTTGCACATTGGAGCTTGCTCTCTTCCTGCTCTTGGAAACCCTGTACGTGTACCATTATGTACAACAGCCCACA... | TGTGTTCTATCAGTTTTTACTTTCTTCCTATCCAACTTTTTGGTTTAAAGAAATGAGATCTGGTAAGTTCCCATCTTCATCTTGGAAGGTGTGGTAGATTTTAATTCTTCCCTTTCCCGCGTCCACATCCTGGCAGTGTGATGTTTCATATCCTTCTGTTCAGAGATAGAGTCTATTTTTCCACTTCTGGAATAGCTGGCTTGCCCATGTGAATTGTTTTGTGCCATAGAAGAGGCTTGAAAAGCACTTGCACATTGGAGCTTGCTCTCTTCCTGCTCTTGGAAACCCTGTACGTGTACCATTATGTACAACAGCCCACA... |
Task1_train_23214 | Here is a genetic alteration in ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAG... | GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAG... |
Task1_train_23215 | A mutation in ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Canavan Disease, Familial Form | GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAG... | GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAG... |
Task1_train_23216 | Assess the clinical impact of this variant on gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Spongy degeneration of central nervous system | GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAG... | GCTACTCGGGAGCCTGAGGCAGGAAAATTGCTTGAACTCGGGAGGTGAAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAG... |
Task1_train_23217 | The gene ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Inborn genetic diseases | GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAAT... | GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAAT... |
Task1_train_23218 | This alteration in ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Spongy degeneration of central nervous system | GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAAT... | GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAAT... |
Task1_train_23219 | A variant was discovered on Chromosome 17, affecting ASPA, SPATA22 (aspartoacylase| spermatogenesis associated 22). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Canavan Disease, Familial Form | GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAAT... | GCTGAGATTGTGCCACTGCACTCCAGCCTGGACAGAGCTGAGATTACGTCTAAAAAGAAAAAGAAAAAATGCTGATTTCTGAGTCCTCTTCCCAGGGGCTCTGATCTAATTCATCAGGGTGTAGACAGGGAATCAATTGAGTTCACCAGGTGATTTTCATGTGGCTCAGGTCTGGATAGCACTGCACAATGTCGGAATCTCCACAGGTGGGGCTAGCCAGACGTGTGTTGAAGAGGTTCCTTTAGTGATTCTGGGGCAAGTCTCTGCCTGAAAAACCACCGGTTCAGAGAAATAGTTCTCAGCCGAGCCACCCTGTAAAT... |
Task1_train_23220 | A variant affecting Chromosome 17, within the gene TRPV3 (transient receptor potential cation channel subfamily V member 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Olmsted syndrome 1 | TTTTCTCAAACTCCAAGATGGTCCTGGCTCTCTGGGGACATAAGCAAGTCTAAGGAGTAGGCATCCACACTCACAAGCACACACAAGGGCACACACACTGTCGGGGAGCCCACTCCACCCTCACCTCATGCTTAATGCATAGATCGCAAGGGTTTGGCTAATCTACAGAATTCAAAGACAAAAAAGCAGGCCGGGCACGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGCGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCTGTTTCTACTAAAAACACAAAA... | TTTTCTCAAACTCCAAGATGGTCCTGGCTCTCTGGGGACATAAGCAAGTCTAAGGAGTAGGCATCCACACTCACAAGCACACACAAGGGCACACACACTGTCGGGGAGCCCACTCCACCCTCACCTCATGCTTAATGCATAGATCGCAAGGGTTTGGCTAATCTACAGAATTCAAAGACAAAAAAGCAGGCCGGGCACGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGCGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCTGTTTCTACTAAAAACACAAAA... |
Task1_train_23221 | A change on Chromosome 17 affects gene TRPV3 (transient receptor potential cation channel subfamily V member 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Isolated focal non-epidermolytic palmoplantar keratoderma | TTCACTATATTTACAATTGTGTGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCAT... | TTCACTATATTTACAATTGTGTGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCAT... |
Task1_train_23222 | Gene TRPV3 (transient receptor potential cation channel subfamily V member 3) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTG... | TGTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTG... |
Task1_train_23223 | This alteration in TRPV3 (transient receptor potential cation channel subfamily V member 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Olmsted syndrome 1 | GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGA... | GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGA... |
Task1_train_23224 | A variant affecting Chromosome 17, within the gene TRPV3 (transient receptor potential cation channel subfamily V member 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGA... | GTGCTTTTGAGGTTACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGA... |
Task1_train_23225 | A variant was discovered on Chromosome 17, affecting TRPV3 (transient receptor potential cation channel subfamily V member 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Olmsted syndrome 1 | ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTA... | ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTA... |
Task1_train_23226 | This variant lies on Chromosome 17 and affects the gene TRPV3 (transient receptor potential cation channel subfamily V member 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTA... | ACTTGTCTCTATCATAGCCATATGGCAGGAATTCTAGAGCGATGTGGATCTGCATGTTTCTCCCTAACTCTATGTCCAGTAACATAATGTTGGTAGCTGGAAATTGGCCCTGAGAGGAGAACAGTAGTCCGCCCTTCTCTTCGATTTCACTTTCTGCAGTTTTGGTTGCCTGTGGTCAACTATGACCCAGAAATATTACACACAATACAATATTCTGAGAGAGACAACATTCACATACTTTTATTACAGTATATTGTTATCATTGTTCTGTTAGTTATTGCCATTAATCTCACTATGCCTAATTGATAAAATAAATTTTA... |
Task1_train_23227 | Here is a mutation in TRPV3 (transient receptor potential cation channel subfamily V member 3) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AAGAAACAGTGCACCCTCTTCATGGCCCTCAGCAGGGGAGCTGAGCAGAGGGTGCTTCCCCAGGACCAAGACTCAGTGAGGGTTGAATGCACAAAGGCCCAGCTAGAGTCCAGGTGGCGGATCTGAAAGGGGACCTGTGCCTGGGGGGCGTAGGCACCTCCACGGTGAAGGTGAACGCTCCCTCAAATCTTCTCACCTCCCTCACTCCTTACCCCATCCTCACCCCAGAACCTGCAAAGCGGTACTACCACTACAGCCGCCTTCCATTCCCCACATCCAGCCTAGCGTTCCAGCCTCCGAGCCTTTGCTCATGCTGTTCC... | AAGAAACAGTGCACCCTCTTCATGGCCCTCAGCAGGGGAGCTGAGCAGAGGGTGCTTCCCCAGGACCAAGACTCAGTGAGGGTTGAATGCACAAAGGCCCAGCTAGAGTCCAGGTGGCGGATCTGAAAGGGGACCTGTGCCTGGGGGGCGTAGGCACCTCCACGGTGAAGGTGAACGCTCCCTCAAATCTTCTCACCTCCCTCACTCCTTACCCCATCCTCACCCCAGAACCTGCAAAGCGGTACTACCACTACAGCCGCCTTCCATTCCCCACATCCAGCCTAGCGTTCCAGCCTCCGAGCCTTTGCTCATGCTGTTCC... |
Task1_train_23228 | The gene CTNS (cystinosin, lysosomal cystine transporter) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ocular cystinosis | TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGAT... | TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGAT... |
Task1_train_23229 | The gene CTNS (cystinosin, lysosomal cystine transporter) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Juvenile nephropathic cystinosis | TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGAT... | TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGAT... |
Task1_train_23230 | Given this context: Chromosome 17, gene CTNS (cystinosin, lysosomal cystine transporter) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Inborn genetic diseases | TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGAT... | TCAGGAGATACTTCATTTCTATCTTGTAGCTTTCACAAGCCACTAGTTGTATGTAATTATCAATCTGGTTTTTTTTTTGTTTTTTTTTTTTAATTTGAGACGGAGTTTCACTCTTATCACTCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACATGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGATTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCAAGTGAT... |
Task1_train_23231 | The gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cystinosis, atypical nephropathic | AGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCAAGATCATGCC... | AGTTGGAGTGATCAGTGAGCTATAGTTGCACCACTGCACTACAGCCTGAGCTACAGAGCAAGACCTGCCTCTCGGAAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCCGAAGCGGGTGGATCACCTGAGGTCAGAAGATCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACGAAAAATACAAAAAATTAGCTGGGTATGGTTGTGGGCACCTGTAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCAAGATCATGCC... |
Task1_train_23232 | This variant lies on Chromosome 17 and affects the gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Inborn genetic diseases | TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGG... | TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGG... |
Task1_train_23233 | A sequence alteration has been identified in CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Ocular cystinosis | TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGG... | TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGG... |
Task1_train_23234 | A mutation on Chromosome 17 affecting CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Juvenile nephropathic cystinosis | TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGG... | TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGG... |
Task1_train_23235 | This genomic variant is located on Chromosome 17, within the CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Nephropathic cystinosis | TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGG... | TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGG... |
Task1_train_23236 | Consider a variant on Chromosome 17 in gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1). Determine its clinical classification and disease relevance. | Pathogenic; Cystinosis | TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGG... | TCAAAAAAAAAAAAAAAAAGGAAAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGG... |
Task1_train_23237 | The gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Inborn genetic diseases | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... |
Task1_train_23238 | A change on Chromosome 17 affects gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ocular cystinosis | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... |
Task1_train_23239 | Gene CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Juvenile nephropathic cystinosis | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... |
Task1_train_23240 | Here is a mutation in CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Ocular cystinosis | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... |
Task1_train_23241 | This alteration in CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Juvenile nephropathic cystinosis | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... |
Task1_train_23242 | Given a variant located on Chromosome 17 and affecting CTNS, CTNS-AS1 (cystinosin, lysosomal cystine transporter| CTNS antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Nephropathic cystinosis | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... | AAGTCTCACTCAGGCCAGGCGCGGTGGCTCACATCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTAGATTGCTTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAGCATGGCGAACAGGAGGTTCAAGTTGGCTGGTGGGCGCAGCGTCTCTCCTTTTGCTTAGTAAGCTCTTGGAAGGTGAGGCTGCGGGTGGTGCGTCCCTCCGTTCCCTAGCGTGTTGCATAGAGCTAGATGCCAGCGGGGTCCTCGGTAACTGTACGTGGCATCGGATTGAACCTCAGTCTTCCTAACAGGTTGTGGTGCCTCCTGGAGTGAC... |
Task1_train_23243 | A mutation on Chromosome 17 affecting CTNS (cystinosin, lysosomal cystine transporter) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cystinosis | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... |
Task1_train_23244 | A genomic change on Chromosome 17 affects CTNS (cystinosin, lysosomal cystine transporter). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Nephropathic cystinosis | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... |
Task1_train_23245 | This variant affects the gene CTNS (cystinosin, lysosomal cystine transporter) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Ocular cystinosis | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... |
Task1_train_23246 | The gene CTNS (cystinosin, lysosomal cystine transporter) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Juvenile nephropathic cystinosis | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... |
Task1_train_23247 | Gene CTNS (cystinosin, lysosomal cystine transporter) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Inborn genetic diseases | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... |
Task1_train_23248 | Here’s a variant in CTNS (cystinosin, lysosomal cystine transporter) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ocular cystinosis | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... |
Task1_train_23249 | This is a variant in CTNS (cystinosin, lysosomal cystine transporter), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Juvenile nephropathic cystinosis | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... |
Task1_train_23250 | This is a variant in CTNS (cystinosin, lysosomal cystine transporter), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Nephropathic cystinosis | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... |
Task1_train_23251 | Given this variant in gene CTNS (cystinosin, lysosomal cystine transporter) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... |
Task1_train_23252 | A genomic change on Chromosome 17 affects CTNS (cystinosin, lysosomal cystine transporter). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ocular cystinosis | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... |
Task1_train_23253 | Chromosome 17 houses a mutation in gene CTNS (cystinosin, lysosomal cystine transporter). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Juvenile nephropathic cystinosis | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... | GCTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACA... |
Task1_train_23254 | This mutation is located in gene CTNS (cystinosin, lysosomal cystine transporter) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ocular cystinosis | CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACAT... | CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACAT... |
Task1_train_23255 | This genomic variant is located on Chromosome 17, within the CTNS (cystinosin, lysosomal cystine transporter) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Juvenile nephropathic cystinosis | CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACAT... | CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACAT... |
Task1_train_23256 | This variant affects gene CTNS (cystinosin, lysosomal cystine transporter) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACAT... | CTCCTTCAAGGCCAGGGTCCAGCCTCCGTGCCCCTCTCTAAGCCCGCCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACAT... |
Task1_train_23257 | A variant was discovered in gene CTNS (cystinosin, lysosomal cystine transporter), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Ocular cystinosis | CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTC... | CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTC... |
Task1_train_23258 | A mutation in CTNS (cystinosin, lysosomal cystine transporter), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Juvenile nephropathic cystinosis | CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTC... | CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTC... |
Task1_train_23259 | This variant affects gene CTNS (cystinosin, lysosomal cystine transporter) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTC... | CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTC... |
Task1_train_23260 | Assess the clinical impact of this variant on gene CTNS (cystinosin, lysosomal cystine transporter), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Nephropathic cystinosis | CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTC... | CCCTATCCGGGGCCGTCCTTGCTCAGCCCCGGCGTGGCCTCTGTGTGGGTCCACATCTCTGCCCTCCTCTCGCCCCCAGCGCGGTGGCCAGCGCGTGTCCTGGCCTGCCATCGGCTTCCTGGTGCTCGCGTGGCTCTTCGCATTTGTCACCATGATCGTGGCTGCAGTGGGAGTGACCACGTGGCTGCAGTTTCTCTTCTGCTTCTCCTACATCAAGCTCGCAGTCACGCTGGTCAAGTATTTTCCACAGGTACCTCCAGGGCCCTGTTCACATGGCCGGTGGCAGGAGAGGTGAGAGCTACATGGCCCAGGCCCTGCTC... |
Task1_train_23261 | A genomic change on Chromosome 17 affects CTNS (cystinosin, lysosomal cystine transporter). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ocular cystinosis | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... |
Task1_train_23262 | The gene CTNS (cystinosin, lysosomal cystine transporter) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Juvenile nephropathic cystinosis | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... |
Task1_train_23263 | The gene CTNS (cystinosin, lysosomal cystine transporter) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Nephropathic cystinosis | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... |
Task1_train_23264 | This variant lies on Chromosome 17 and affects the gene CTNS (cystinosin, lysosomal cystine transporter). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Ocular cystinosis | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... |
Task1_train_23265 | The variant affects gene CTNS (cystinosin, lysosomal cystine transporter), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Juvenile nephropathic cystinosis | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... |
Task1_train_23266 | A change on Chromosome 17 affects gene CTNS (cystinosin, lysosomal cystine transporter). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... |
Task1_train_23267 | A mutation in CTNS (cystinosin, lysosomal cystine transporter), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cystinosis | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... |
Task1_train_23268 | Given this context: Chromosome 17, gene CTNS (cystinosin, lysosomal cystine transporter) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Nephropathic cystinosis | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... | CCCAGGCCCTGCTCCGGTGGGGCAGCTCCTGCCGGCGTGAGGAAACAGGACGGAAAGCCACAGGGAGCCCGGGAGCCCAGCGGGAGCGGGGCGGTGGGGAGGCCAGCCTGCCGCTCTTCCCCCGGGGCTGGAATCACAGGAGATCGCTAGCGGAGGCCCCTTGGACCCCACGCTCCCCTAAGCATCAGGTGTGCGGGTGGTTCCCCTTCTCCACACCCCAGCCTTTCCTGATGCCTTTGGCTCTGCCCTCACCACTGCCTCCATTTCCACAGCAGGACACTCTGGAGAGGTGAGGTGGGAGGAGGGAGCCCCTTCCCGCG... |
Task1_train_23269 | Here is a mutation in CHRNE (cholinergic receptor nicotinic epsilon subunit) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Congenital myasthenic syndrome 4A | GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCT... | GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCT... |
Task1_train_23270 | Given a variant located on Chromosome 17 and affecting CHRNE (cholinergic receptor nicotinic epsilon subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Congenital myasthenic syndrome 4A | GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCT... | GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCT... |
Task1_train_23271 | A variant found in Chromosome 17 affects CHRNE (cholinergic receptor nicotinic epsilon subunit). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital myasthenic syndrome 4C | GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCT... | GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCT... |
Task1_train_23272 | Chromosome 17 houses a mutation in gene CHRNE (cholinergic receptor nicotinic epsilon subunit). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Congenital myasthenic syndrome 4B | GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCT... | GACTTCCCAGCTGGCCCCCAGGGGGCGAGTGGTGCACCCTCTCCCCTAACATCCCAGCCTGCCTTTCCTCCGGGTGAGGGGCACTGTGAGTCTCCTCCTGCAGTCTCTGTGTCTCCCTCAACTCTTCTGCCACCCCTTCTTCCCTTCTTTCCCTCTCCCAGTTGAGACACCCCCCCAACCTCAGCCCTTGGTGACTTCTTCTCCTGCCCCACCCAGGTGTTTTTTGCCTCAGTCCGCTCTGGGGGCAGCAGCCAAGTTTACTTCATGACTCTGAACCGTAACTGCATCATGAACTGGTGACGGGGCCCTGGGCTGGGGCT... |
Task1_train_23273 | The gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Congenital myasthenic syndrome | ATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGC... | ATACACGGCGCGTAGGGGAGATCAGGCACTCGGTTGAAGTAGGCCCCGAGGAAGATGAGGCTGGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGC... |
Task1_train_23274 | The gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Congenital myasthenic syndrome 4A | GGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGG... | GGAGCCCACGCTGAAGAGCACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGG... |
Task1_train_23275 | Here is a mutation in C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Congenital myasthenic syndrome 4A | ACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCC... | ACCAGAGCGGCCCAGAAGCAGATGTTGTCAAGGGCATTCCCCATGCGCACCCAGTCGGACACTTCCTGGGGAAGGGTCGGCACAGTCAGTAAAGAGGCAGCTGCAGGAGCCAGCGGCATGGGAGACAGTGGTGGGCCTCTGCCTCGCTCCACCCGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCC... |
Task1_train_23276 | Assess the clinical impact of this variant on gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital myasthenic syndrome 4A | CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACG... | CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACG... |
Task1_train_23277 | Chromosome 17 houses a mutation in gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Congenital myasthenic syndrome 4A | CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACG... | CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACG... |
Task1_train_23278 | This alteration in C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Congenital myasthenic syndrome 4B | CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACG... | CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACG... |
Task1_train_23279 | This gene mutation involves C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital myasthenic syndrome 4C | CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACG... | CGCCTCTGGCTCCTGTCCCACCTCGCCGGTGGCCTCCTGATCTCTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACG... |
Task1_train_23280 | This variant affects gene CHRNE, C17orf107 (cholinergic receptor nicotinic epsilon subunit| chromosome 17 open reading frame 107) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Congenital myasthenic syndrome 4A | CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGG... | CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGG... |
Task1_train_23281 | Given this variant in gene CHRNE, C17orf107 (cholinergic receptor nicotinic epsilon subunit| chromosome 17 open reading frame 107) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Congenital myasthenic syndrome | CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGG... | CTCGTGCTCTCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGG... |
Task1_train_23282 | A mutation on Chromosome 17 affecting C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Congenital myasthenic syndrome 4A | TCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGA... | TCGGCCACGAAGTTCACGGCATCCACACAGCAGCGGACCTCGGGGGCGGCGGCGCCCAGGCTCTGGCAGAAGGCAGCTGGCGGGGAAAACACCGGGGTGGGCCTTAGGAGCCTCCCCCCTGGCAGGCACCCCGCGCGGCCCCCCGGGCCAGGGCCACTGTGCTCACCCGTCCAGGTCCCCTGCCGGTGCCTCTGCCCCTCAAACACGAGCTCGCTCCGTGGCTTTTTCAGTATCAGCTCCTCCGCGCGGAGCAATAAGCCCACCGACGACGCCCGCCTTGGGGGCGAGGCGGCCCGGGGGGCCTCGGGCGGCGGCGGGGA... |
Task1_train_23283 | A genomic change on Chromosome 17 affects C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Congenital myasthenic syndrome 4A | TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCT... | TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCT... |
Task1_train_23284 | Given a variant located on Chromosome 17 and affecting C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Congenital myasthenic syndrome 4C | TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCT... | TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCT... |
Task1_train_23285 | Gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital myasthenic syndrome 4B | TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCT... | TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCT... |
Task1_train_23286 | The gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Congenital myasthenic syndrome 4A | TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCT... | TTCGCCCCTGTGACCCCTGCCCTGCTACTCTACTGCTCTGCTCCTTCTCCAGGTGGCCCTCCAGCCCCCGCTTCTGTCTTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCT... |
Task1_train_23287 | A variant affecting Chromosome 17, within the gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit), has been observed. Determine if it's benign or associated with disease. | Pathogenic; CHRNE-related disorder | TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGC... | TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGC... |
Task1_train_23288 | Mutation context: Chromosome 17, Gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital myasthenic syndrome 4A | TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGC... | TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGC... |
Task1_train_23289 | A mutation found in C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Congenital myasthenic syndrome 4C | TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGC... | TTCCCTGGAACTCTCCGTGGCCGCAGCCCATGAATATCTGGAGCAGAGGTTCAGAGAGCTGAAGTCCCTGGAGCCACCCGAACCGAAGATGCAGGGGATGCTGCCTGCCCCGAAGCCCACCCTGGGGCTGGTGTTGAGAGAAGCCACAGCCAGCCTCGTGAGCTTCGGCACCACCTTGTTAGAGGTGGGGTACTGGGGGGCTTAGGATACGCGGCGATCGGGTAGCGGGAACAAGGACCTCTGCCTCCCCGCTAACCCCTGTGCCCCCAATGCAGATCTCAGCCCTGTGGCTGCAGCAGGAGGCGCGGCGACTAGACGGC... |
Task1_train_23290 | This mutation is located in gene C17orf107, CHRNE (chromosome 17 open reading frame 107| cholinergic receptor nicotinic epsilon subunit) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Congenital myasthenic syndrome 4B | ATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGG... | ATGGCTATGCCTGTGTGGACGGGGTCTGCAGGGGTCTGCCTCATTCCTGCGACAGTCGCAACAGCAGCTAGGCCTCGGAATCCCCGGAGAACCGGTGAGCTCAGGACACGGGGTGAGTTAGGGGCCAGAGGCGGCGGGGCTAGGGAGGCACTGAGCCGGACTGTCCCCCAAGAGAGCTACTCGGGAGACCTCCAGGTGACGTCCAGCAGCAGTGAGGAGGACGGCGGACCAGGGACTCCATCCCCGTACCAGCCCCACCCAGCGTCCGAATAAAGCCCAGGGCGGGGCGAGACAGCCAGAGCTTTTCCCGGGGTCTCTGG... |
Task1_train_23291 | This mutation is located in gene GP1BA (glycoprotein Ib platelet subunit alpha) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Bernard-Soulier syndrome, type A2, autosomal dominant | GCAGAGGTGGCAGTGAGCCGAGATGGAGCCATTGCACTCCAGCCTGGGAGACAGGGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAGGAGGAAGAGGAGGAAGAAGAAGAGGAGGAGGAGGATATGAACAAGAAACAACAACAACCTTGGACTAGGAATGCTGGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGG... | GCAGAGGTGGCAGTGAGCCGAGATGGAGCCATTGCACTCCAGCCTGGGAGACAGGGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGAAAGGAGGAAGAGGAGGAAGAAGAAGAGGAGGAGGAGGATATGAACAAGAAACAACAACAACCTTGGACTAGGAATGCTGGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGG... |
Task1_train_23292 | A genomic change on Chromosome 17 affects GP1BA (glycoprotein Ib platelet subunit alpha). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Bernard Soulier syndrome | GGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAG... | GGCAGGATGGTGTGGATGGAGAGTAGATTTGAGAGAGACGGGAGATAAAATCACCAGGACTTGGTGATGGGGATGAAAGACGGGAGACGTTAGAGATGACTATTAGGGATTTTGTTTGTGTTGACTGAATGGTTAGGTAAATGAGTGGATGATGGTGCCACTCACCAGGCTGAGCAACACAGGAGGAGAAGCCATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAG... |
Task1_train_23293 | This variant impacts the gene GP1BA (glycoprotein Ib platelet subunit alpha) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Bernard Soulier syndrome | ATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCT... | ATTTGGAGAGAGATGGTGAGTTCAGCTTTGAACATATTGTTTTGGTGTCTGTGGGACATCCAAGTAGAGATGTCCAGAAGGCAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCT... |
Task1_train_23294 | This sequence change occurs on Chromosome 17, altering GP1BA (glycoprotein Ib platelet subunit alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Nonarteritic anterior ischemic optic neuropathy, susceptibility to | CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGG... | CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGG... |
Task1_train_23295 | A variant on Chromosome 17 in gene GP1BA (glycoprotein Ib platelet subunit alpha) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Bernard-Soulier syndrome, type A2, autosomal dominant | CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGG... | CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGG... |
Task1_train_23296 | This gene mutation involves GP1BA (glycoprotein Ib platelet subunit alpha) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Bernard Soulier syndrome | CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGG... | CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGG... |
Task1_train_23297 | Given a variant located on Chromosome 17 and affecting GP1BA (glycoprotein Ib platelet subunit alpha), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Pseudo von Willebrand disease | CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGG... | CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGG... |
Task1_train_23298 | A variant was discovered in gene GP1BA (glycoprotein Ib platelet subunit alpha), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bernard-Soulier syndrome, type A2, autosomal dominant | CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGG... | CAGCTGGACATATGTGCTTGTGTCTCAGGAGAAGGGTCTGGACTAGAGACATAGATTTGAGAGTCATTAGGTTGTAGGTGGTGGTTGAAGGCAAGGGAATGGATGAGGATAATCTCAGGTGGTTGCATAGCGTAAGAAAAGAAGAGAATGCCGGGCGCGGTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGG... |
Task1_train_23299 | This variant impacts the gene GP1BA (glycoprotein Ib platelet subunit alpha) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Bernard Soulier syndrome | GTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAA... | GTGGCTCATGCCTCTAATCCCAGCACTTCGGGAAGCCAATGTGGGTGGATCACTTGAGATGAGGAGTTCGAGACCAGGCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGAATGAAGACAGCCTAAGCACAAACTCTGGGGGCAGTTTAATTGTTCAAGAAGGGGAATCTATGAAGGAGACTGAGAAGGCCCAACCAAACAGGTAAGAAGAAAACCAAGAAAATTACAGGGTCATGTGTCACAGAGGCCAAAAGGAGAATCCCAAGGGGCGAGTGGCCATGGGTATGCAGGCTGCCGAA... |
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