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_22600 | Here’s a variant in NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Regional enteritis | AAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTT... | AAGGTGACAATTGGTGTGTTTATTTCTCTATAAAATGACATTTTTTTTTTCTGGAGAATTTTAGTATCATTGGTGATGACTGGAAAACCTGCATCAGAAATCAGGTCGGAAGAGGAAGATATATATCTGATATGTACTGGAGAGGAAGATATCTATCTTATGGTCTAAGTTCAGGGATCCTGGTATATTCAGAGGGCAGAAAGCTCAGCAATAATCATCAACTCTGGGAACAGAGGTGACATAAACACAGGGCGTCCCCTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTT... |
Task1_train_22601 | This mutation occurs in NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Blau syndrome | CTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTTTTTGGGTTGAAAATAGTGGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTG... | CTTTGTGTGACTGCAGATAGTCATCAGTGAGCTCAGAGCTCTATGAAAATTACTTGCTAGTTTTTGGGTTGAAAATAGTGGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTG... |
Task1_train_22602 | Here’s a variant in NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Blau syndrome | GGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCA... | GGGCCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCA... |
Task1_train_22603 | An alteration has been detected in NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Blau syndrome | CCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCC... | CCAGTGTTTGGTTGGGGGCAGTGAGGCTGTGATGGCGGGGGACCATGCCAAGCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCC... |
Task1_train_22604 | This is a variant in NOD2 (nucleotide binding oligomerization domain containing 2), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Regional enteritis | GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTC... | GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTC... |
Task1_train_22605 | This variant impacts the gene NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Blau syndrome | GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTC... | GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTC... |
Task1_train_22606 | This gene mutation involves NOD2 (nucleotide binding oligomerization domain containing 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Blau syndrome | GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTC... | GCTCCTACCAGCCTGGGACGCTAAACCAGCACTTCCCCATTTCCTGAAAGGGGAACTAAACTCTGACACAGGAAATGGTTTGCTTGCATTACTTTCAGGATGAGAAAGGAAGAGCACTGGCCTTCCAAACACACCCCGTGCATGAAAACTCTCCCTGCATGGGGTGCATGGGGAGGATGGGGAAGTGGAGGCAGGATCACAGACTCTTGTTCGAGTGCTCAGCTGGGGCACCCCGGTGACCCCGAGGCCTTCCCTTGCTAGGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTC... |
Task1_train_22607 | This genomic variant is located on Chromosome 16, within the NOD2 (nucleotide binding oligomerization domain containing 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inflammatory bowel disease 1 | GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTG... | GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTG... |
Task1_train_22608 | This alteration occurs within gene NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Blau syndrome | GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTG... | GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTG... |
Task1_train_22609 | Given a variant located on Chromosome 16 and affecting NOD2 (nucleotide binding oligomerization domain containing 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Regional enteritis | GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTG... | GGTCCACCCAGATCAATCAGGATCATCTCCCCATCTCGAAGTTTAACTTTATCACATCTCAGAGTTCCTTTTGCCACGTAAGGTAACATATTCACAGGTTCTGAGAATCCGGACATGGACATCTTTGAGGGTCTATTGTTGTGCCTACTATATCCATGAATAATAATGATAATAAGCACCATTTTTTGAGAGTTTGCCATGTCAGATATTCTTTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTG... |
Task1_train_22610 | Here’s a variant in NOD2 (nucleotide binding oligomerization domain containing 2) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Regional enteritis | TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCAT... | TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCAT... |
Task1_train_22611 | This variant affects the gene NOD2 (nucleotide binding oligomerization domain containing 2) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Blau syndrome | TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCAT... | TTTAAACTGTATTTTATCTCGCTGCCTCCTGAAAAAATCCTTCCAGGTGTATATTGTCCCCATTTTTACAGATGAGAGAACTGAGGCCCAGAAAGGCTAAATGGCTTGCCCAAGTGTATGGTGGACCCAGGTTTTCAAACTCAGGTGTGTCTGGCTTCAGAGACTGGGCTCCTGAGCCCTTAAGCCCTTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCAT... |
Task1_train_22612 | This genomic variant is located on Chromosome 16, within the NOD2 (nucleotide binding oligomerization domain containing 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Behcet disease | TTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAG... | TTTGTTCCCCTTTAGAAAAAGTCACCTGAGGCTGAGTGGTGAAGGGATTTATCCAAAGCCACCCGGCCACTATGGCAGGACAGATATCAGAATACAGGTCTTCCGATCCCAGCCCAGAGCCCCTTCCCGTCATCTAGAACTCCTCCTGGTGTCAGTAATGATAACGGCAGTCACTGATGTCTTTTGAGCACTTACTTTGTGTTGAGCACTTACACTGTGCTAAGCACTTGACATAGGTCATCTTAGTTGATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAG... |
Task1_train_22613 | A variant was discovered on Chromosome 16, affecting NOD2 (nucleotide binding oligomerization domain containing 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Behcet disease | ATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACC... | ATCCGTGTAAAACTCTGTGAGGTAGTGACCAACATTTCTCCCACCTTACAGAGGTGGAAACTGAGGGTTAGGAAGTTTCCTTGACTGTCCTCAAAGTGCACAGCTTGTGAATGGAGGAGCCAGGATGGGCGCCCGCTGGCTCTCCTATCCCTTCAGTTATGTCAGCGTCCCCCGCAGCAGCCCATTGTCTGGTTAGGTCCCGTCTTCACCATGGTGCCACCTTCATCTGCCTCTTCTTCTGCCTTCCAGCTGCCACATGCAAGAAGTATATGGCCAAGCTGAGGACCACGGTGTCTGCTCAGTCTCGCTTCCTCAGTACC... |
Task1_train_22614 | The variant affects gene CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Brooke-Spiegler syndrome | CTTTTCTTCAGAGACCCTGTCTTTTTAACCTTACTCATTTTGTATTCCCAGTGGCTGACAGGTTACGTTACTATGTAAGTGGTAGATTCTCAGTCTGTATTGGTTGCAGGAAACTAATGAGTGAATGAATAGTATAAAAAGTGGATATAAAATTAGCTAGTTCTGACTTGTCCTTAGTAAACTTATGGTAGCCGCCAAGTTCTCCTCTGAAGCCATTTTTAGAATTACAAATTTAAAGTGATATTAAACTGATTGAATGTGTCTTGCATTCAGACAAAGAAGAGAGAAAATGTCATCATTATGCCAATTGGTTTGATTGC... | CTTTTCTTCAGAGACCCTGTCTTTTTAACCTTACTCATTTTGTATTCCCAGTGGCTGACAGGTTACGTTACTATGTAAGTGGTAGATTCTCAGTCTGTATTGGTTGCAGGAAACTAATGAGTGAATGAATAGTATAAAAAGTGGATATAAAATTAGCTAGTTCTGACTTGTCCTTAGTAAACTTATGGTAGCCGCCAAGTTCTCCTCTGAAGCCATTTTTAGAATTACAAATTTAAAGTGATATTAAACTGATTGAATGTGTCTTGCATTCAGACAAAGAAGAGAGAAAATGTCATCATTATGCCAATTGGTTTGATTGC... |
Task1_train_22615 | A change on Chromosome 16 affects gene CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 | GAAGGGTACACTGTCCCCTTCACCCCTGCAAACAACCTCTTCATATTGAGAATCACTTTTTAAAGATTATAAATATTCTAAGTTGGCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAG... | GAAGGGTACACTGTCCCCTTCACCCCTGCAAACAACCTCTTCATATTGAGAATCACTTTTTAAAGATTATAAATATTCTAAGTTGGCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAG... |
Task1_train_22616 | Located on Chromosome 16, this mutation impacts CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Brooke-Spiegler syndrome | GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGA... | GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGA... |
Task1_train_22617 | This alteration occurs within gene CYLD, CYLD-AS2 (CYLD lysine 63 deubiquitinase| CYLD antisense RNA 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial multiple trichoepitheliomata | GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGA... | GCTCTTTTTCAAGAGTAATTCTTCCCCTCCACTAGCATTTCATTTTGACAGACAGAGTCAGCAGATGCAACAAATAGGAGGATAAGTACCTTAAAAAAAATCTAAAATAATTAAATAGTCTAAAAGAGACTATAAGATGTTCTTAAATGATTGAAGAGACAAAAGAACTAGATGACAATGAAAGGTAAAACAGATTTGATAAACAGAATCAAATAACCAAAGACAGAATCTCCAGAAATAGAAACCATATCATGATGTTACCTCATTGATGCAGTGTGCACAGCTGAAGAGAGAATTGCTCATTTGGAAGACAGAGCTGA... |
Task1_train_22618 | This alteration occurs within gene RPGRIP1L (RPGRIP1 like) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Joubert syndrome 7 | TTAATGAAAAAACACCCCAAACAAACAAACAAAAATCTTTGAAAGAATCTGCAGCCTTTGGTGAGGGGACCCAGGGTGGCTAAGGAAAAGGGGAGGGAGGTAGACATTGAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAA... | TTAATGAAAAAACACCCCAAACAAACAAACAAAAATCTTTGAAAGAATCTGCAGCCTTTGGTGAGGGGACCCAGGGTGGCTAAGGAAAAGGGGAGGGAGGTAGACATTGAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAA... |
Task1_train_22619 | Here is a mutation in RPGRIP1L (RPGRIP1 like) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Joubert syndrome 7 | GAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTC... | GAAGTCTTTTTGATTTTTGAGTCATGTGAATATATTACCTCAATCAATCACTCAATTAATAAAATAAAATCCGTCCTGAGACCCTAAGTCACCCTCCTTCCTTCTTCAAATACTTTCTTCACTTGGTCTCTGGGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTC... |
Task1_train_22620 | Given this context: Chromosome 16, gene RPGRIP1L (RPGRIP1 like) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Joubert syndrome 7 | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... |
Task1_train_22621 | Here is a mutation in RPGRIP1L (RPGRIP1 like) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Joubert syndrome and related disorders | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... |
Task1_train_22622 | The gene RPGRIP1L (RPGRIP1 like), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Meckel-Gruber syndrome | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... |
Task1_train_22623 | Mutation context: Chromosome 16, Gene RPGRIP1L (RPGRIP1 like). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Familial aplasia of the vermis | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... |
Task1_train_22624 | A variant affecting Chromosome 16, within the gene RPGRIP1L (RPGRIP1 like), has been observed. Determine if it's benign or associated with disease. | Pathogenic; COACH syndrome 3 | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... |
Task1_train_22625 | Here is a mutation in RPGRIP1L (RPGRIP1 like) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Joubert syndrome 7 | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... |
Task1_train_22626 | Given this context: Chromosome 16, gene RPGRIP1L (RPGRIP1 like) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Meckel syndrome, type 5 | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... | GGGTACCACAGACTCGTTTTCCTCCTACATCACTGGCCACTCCTCAGTTTCTTTTGCTGGCTTTTCCTCCTCTTCCTGAAGCCTTAATTTTGGAGTTTCCCAAGGCTTGGTCCTTGGCTACCTTCTTTCCTTTATTTACATTCACTCTCTATGTGATTTTATCTATGCTCATGGCTTAAAATATATTCTATATGCTAACAACTCCCACTTTTATATCTCTATCCCTTACTTTCAGATTGGTGTGTCCAGCCACCAGCCTGACATCACCACTTGGATGTCTAATAGGCGGGTCAGTCTTAACTTGTCCAAACAGAATTCTT... |
Task1_train_22627 | The variant affects gene RPGRIP1L (RPGRIP1 like), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Familial aplasia of the vermis | CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCC... | CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCC... |
Task1_train_22628 | A genomic change on Chromosome 16 affects RPGRIP1L (RPGRIP1 like). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Meckel-Gruber syndrome | CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCC... | CTCCATACCTACTGTGTGAAGTCTTGCCTGAATCTTGAGGTAGAAATAGGCATTCTCTCCTCAATGTTTCCTTGATACCTTTAGATTTTCTTAGCTTTACACTCTTCATAGTAAAACATAACCATTTATTTACTTGTCAACATCTTAGGAGTTCCATGAGGGTAGTGCCTCAGTTTTTCCTATTTGTATTCTCCCTGCCCAGCACTTTGCTTAGGATGCATTAGGGGCTTGATCATGTTTATGGAGTCAATCAATGAATTGAGGGGACAGATAAAATATGATGGTTAAAATTTAGTAAAACTTGAAAGGAATGAAAATCC... |
Task1_train_22629 | This sequence variant lies in FTO (FTO alpha-ketoglutarate dependent dioxygenase) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Lethal polymalformative syndrome, Boissel type | CAATCTCGGCTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCC... | CAATCTCGGCTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCC... |
Task1_train_22630 | Mutation context: Chromosome 16, Gene FTO (FTO alpha-ketoglutarate dependent dioxygenase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Lethal polymalformative syndrome, Boissel type | CTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCCCTACTTCTG... | CTCACTGCAACCTCTGCCTCCTGTGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCACCTGCCACCATGCCCAGCGAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAATCCACCCACTTCGGCCTCCCAAAGTACTGAGATTCCAGGCATGAGCCACTGTGCCTGGCCAGAAGTTGGATCCTTTTGAGGCTTAGTTTTAAGCCTTGCTAGGTGGGACTAGAGCAGCCTTTAACCTAGGACTCATTTAGCCCTACTTCTG... |
Task1_train_22631 | This sequence variant lies in IRX5, LOC126862355 (iroquois homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Craniofacial dysplasia - osteopenia syndrome | GGGGCCGCGGAGGGGAGGCGGGCGCTAGGGAGGGGCGAGAGGAGCGCCAGCGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAA... | GGGGCCGCGGAGGGGAGGCGGGCGCTAGGGAGGGGCGAGAGGAGCGCCAGCGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAA... |
Task1_train_22632 | Given this context: Chromosome 16, gene IRX5, LOC126862355 (iroquois homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Craniofacial dysplasia - osteopenia syndrome | CGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTC... | CGAGCGGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTC... |
Task1_train_22633 | A mutation found in IRX5, LOC126862355 (iroquois homeobox 5| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:54965529-54966728) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Craniofacial dysplasia - osteopenia syndrome | GGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGC... | GGGAGAGAGAGCCGAGGAGGAAGAGGGAGAGGGCGAGGCGCGCCTGGCGGCCGGGTTGGCTGCGGCCGCCCAGAAGCTCCTGCCAGTCCTCCCACCGACTACACCCCGGGAAGGAGGAGCTTCGGGCGCGCACAAGGCGTCAGAATCCTCAATTTCCAACTTAGCATCTTGGCAGGACCTTTGCAAAGGCAAAAGCAGAGCCCCCCGGTGCAAAGAGCGAGGGGAAAAAAGAGAAAGCAGCAAGGGAGGGGAGGGGAGGGGAAAAAAAGCCCAGCTGGGGCGAGCGAGGCGCGCAGAGGAGCGGGCGCGGCGGTCGCAGC... |
Task1_train_22634 | A variant found in Chromosome 16 affects MMP2 (matrix metallopeptidase 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Multicentric osteolysis nodulosis arthropathy spectrum | CTAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAAC... | CTAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAAC... |
Task1_train_22635 | The gene MMP2 (matrix metallopeptidase 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Multicentric osteolysis, nodulosis, and arthropathy | TAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAACT... | TAAATTGGGGTTCAGCCTGGGGGCCACATGGGTTCTTGGCTTGCACAGGAAGGAATTCAAGAGCGAGCCAACAGAGTAAAGTGAAAACAAATTTATTAAGAAGGTAAAGGAATAAAAGGGTGATTATTCCATAGACAGAGCAGGGAATGGGCTGCTGGACTGAGTATACATATGGTTATTTCTTGATTATATGCTAAACAAGGGGTGGATTATTTAAGAGTTTTCCAGAAAAAGGGTGGGGAGTTCCTGGAACCGAGGGTTTCTCTCCCTTTTAGACCATATAGGGTAACTTCTCAATGTTGCTATGGCATTTATAAACT... |
Task1_train_22636 | Given this variant in gene MMP2 (matrix metallopeptidase 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Multicentric osteolysis, nodulosis, and arthropathy | AACTACGATGATGACCGCAAGTGGGGCTTCTGCCCTGACCAAGGTACGAGGCCCTGGTCATTGGACAGAGACCCTGGACATTGCCCTTGCCCCTAAACTTGCTCCAAAAACCTTCCTGAGACCTCACCCACTTCAAGCATAGACACTGCCCCCCAGACACCCACCTACCCAGACCCGCCCACCTGGGCTGAGACAATGCCCATCTCTGGTGGAGCCAAGGTCCCTGCTTAGATCCTGCCCATCCAGGTGGAGGCACAGCCTCCAAAATCAGACCCTGGTAGACCAGATGCTGCTACTCACCTCCTGGGTAAGAACTGGCC... | AACTACGATGATGACCGCAAGTGGGGCTTCTGCCCTGACCAAGGTACGAGGCCCTGGTCATTGGACAGAGACCCTGGACATTGCCCTTGCCCCTAAACTTGCTCCAAAAACCTTCCTGAGACCTCACCCACTTCAAGCATAGACACTGCCCCCCAGACACCCACCTACCCAGACCCGCCCACCTGGGCTGAGACAATGCCCATCTCTGGTGGAGCCAAGGTCCCTGCTTAGATCCTGCCCATCCAGGTGGAGGCACAGCCTCCAAAATCAGACCCTGGTAGACCAGATGCTGCTACTCACCTCCTGGGTAAGAACTGGCC... |
Task1_train_22637 | Here is a mutation in SLC6A2 (solute carrier family 6 member 2) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neurocirculatory asthenia | TCCCTTATAGAGTATAGTAGGTGGGGTTTGCAGCATGTAGCCTGTAGCTGTCCAGGCAGGGAACTGCTCTCCAGACTGGCTGTTGGGGGTCAACCTCTCCGATGCACAGGTGAGCTGTAAGTTCATGCTGATTTCATCTGTTATCTCTAAACCTGTGTTCTGTCCGCCCACACATGACCGAACAATTGGGCCCCCAGATACTCCCCTATCATGTGCAGCTCAGACCAATGGTTTCAGCCATTGATGAGGTCCTTGATGTTTCTTACAGGAGCTGGCCTAGTGTTCATCCTGTATCCAGAGGCCATTTCTACCCTGTCTGG... | TCCCTTATAGAGTATAGTAGGTGGGGTTTGCAGCATGTAGCCTGTAGCTGTCCAGGCAGGGAACTGCTCTCCAGACTGGCTGTTGGGGGTCAACCTCTCCGATGCACAGGTGAGCTGTAAGTTCATGCTGATTTCATCTGTTATCTCTAAACCTGTGTTCTGTCCGCCCACACATGACCGAACAATTGGGCCCCCAGATACTCCCCTATCATGTGCAGCTCAGACCAATGGTTTCAGCCATTGATGAGGTCCTTGATGTTTCTTACAGGAGCTGGCCTAGTGTTCATCCTGTATCCAGAGGCCATTTCTACCCTGTCTGG... |
Task1_train_22638 | With a mutation on Chromosome 16 in gene CES1 (carboxylesterase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; DRUG METABOLISM, ALTERED, CES1-RELATED | CCTTAAGAATAAGGCTGGGCTTCAGCATCTCTGAGACCCTGCTTTCATTAGTACAGCATTGTGGTGATGTATGGTTCTACATTCACACAACTGGCAACTATTTACTGAGCATCTACTGTATGCCTGACGCTGTCTTATGAGCTAGAGCACATCTGAGAGCAAAACAGGCAAAACCTGTGATGACACTGAATTCCCACTACAGATCACAAGCAGATAAACAGATACATAGAGAGAATATAATGATGTCAGGTAGTCAAAGTGCACTGAGGTAAATACAATGGAGTAAGGAAAAAAACAGGAGTGGGACAGGGGGTGCCATT... | CCTTAAGAATAAGGCTGGGCTTCAGCATCTCTGAGACCCTGCTTTCATTAGTACAGCATTGTGGTGATGTATGGTTCTACATTCACACAACTGGCAACTATTTACTGAGCATCTACTGTATGCCTGACGCTGTCTTATGAGCTAGAGCACATCTGAGAGCAAAACAGGCAAAACCTGTGATGACACTGAATTCCCACTACAGATCACAAGCAGATAAACAGATACATAGAGAGAATATAATGATGTCAGGTAGTCAAAGTGCACTGAGGTAAATACAATGGAGTAAGGAAAAAAACAGGAGTGGGACAGGGGGTGCCATT... |
Task1_train_22639 | This variant impacts the gene GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Developmental and epileptic encephalopathy, 17 | GCCCCTGGGGCTGTCTGATGGAACTGATTGTAAAACTATTTTGTGCAGTAAAAAAGTCGTTTCTTCAAAATCTGAGACCACCCAGAACATGCCCAATCTTTGGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGA... | GCCCCTGGGGCTGTCTGATGGAACTGATTGTAAAACTATTTTGTGCAGTAAAAAAGTCGTTTCTTCAAAATCTGAGACCACCCAGAACATGCCCAATCTTTGGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGA... |
Task1_train_22640 | Here is a mutation in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGAAACCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGG... | GGCAAATATCGACTGGTTTCCTCAGTATTTGACTAGCTGTACACCGAGTAACTGTCCCGGGTTTCTGGGTCTTTATCTGAGAAGAAATGAGGGGGAAATGTTTCAGAAGATGAAAAAAGGAAGAAAACCTCTCATCCAAAATCTGTTCAAAATTCATTTTGTGCGTTTCGAAGGGGGAGGACAGGAGAATTTAGTGCAAAGACGGCCTCCACCAAACGAAACCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGG... |
Task1_train_22641 | The following genetic variant occurs in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental and epileptic encephalopathy, 17 | CCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGC... | CCGTCCAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGC... |
Task1_train_22642 | This alteration occurs within gene GNAO1 (G protein subunit alpha o1) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCA... | CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCA... |
Task1_train_22643 | This alteration occurs within gene GNAO1 (G protein subunit alpha o1) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 17 | CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCA... | CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCA... |
Task1_train_22644 | Gene GNAO1 (G protein subunit alpha o1), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurodevelopmental disorder with involuntary movements | CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCA... | CAACATTTGCAAAAGCTTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCA... |
Task1_train_22645 | Here’s a variant in GNAO1 (G protein subunit alpha o1) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy, 17 | TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGC... | TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGC... |
Task1_train_22646 | A variant has been detected on Chromosome 16 in GNAO1 (G protein subunit alpha o1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGC... | TTTTAAAATAAACTGCTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGC... |
Task1_train_22647 | A mutation found in GNAO1 (G protein subunit alpha o1) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCC... | CTCAGGGATCAGGGGTTTGCTGGAAACTCCCGGTCGCTTGAAGCCCTGTCCCTCCACTCCGGGCACCCTGGCCTCCCCAGGGTGGGCACCCCTCCTGCACGGAGAGCGGCGGCTGGGATCTCGGAGCAGGGTCGGCTATGGCCCTGGAGGCAGCGGCTCACAGAGAAAAAGCTCTGGCTTTTCTCCGCCCGCTGCGTTCCTCTTCTTACAGCCTCGGGTGTCACATATTAGGTGCTCAATAAATGTGGACATAGGAAACGAAAAGTCCGAATCTGTCCTTACGCCCCCAAGGCGAATTCTGGGGCGCGCGGGTTTATTCC... |
Task1_train_22648 | This variant affects the gene GNAO1 (G protein subunit alpha o1) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | CAGCACAGAGAGGCCAGAGGGCCAGGTTGCCCATCTAAAGGAGGTTTGCCCTGGCTGGGAAAGGAAGAGCAGGACCAAACGCTTCCAGGCTGGTGTCCAGCTGCAGATGACAGCAGAGGGCGTCCTCACAGCTTGGAAGCAGAGGTCATGGGCGCCAGGGCGGGGCAGGCACAGAGGCTTGGGAGAGGCTCCTTCTGGCTGAGACCAGAGCCTGCCCAGATGCCACTGGCTGGCGAGGAGGCTGTGAGGCCGGGGGCGTGTACAGGTCTGCTCTGCAGCCTCGGCTCTCTCACCCCATCCCCACACCGTTCCTGTCCACG... | CAGCACAGAGAGGCCAGAGGGCCAGGTTGCCCATCTAAAGGAGGTTTGCCCTGGCTGGGAAAGGAAGAGCAGGACCAAACGCTTCCAGGCTGGTGTCCAGCTGCAGATGACAGCAGAGGGCGTCCTCACAGCTTGGAAGCAGAGGTCATGGGCGCCAGGGCGGGGCAGGCACAGAGGCTTGGGAGAGGCTCCTTCTGGCTGAGACCAGAGCCTGCCCAGATGCCACTGGCTGGCGAGGAGGCTGTGAGGCCGGGGGCGTGTACAGGTCTGCTCTGCAGCCTCGGCTCTCTCACCCCATCCCCACACCGTTCCTGTCCACG... |
Task1_train_22649 | Consider this mutation in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TCCAGGCATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAAC... | TCCAGGCATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAAC... |
Task1_train_22650 | This is a variant in GNAO1 (G protein subunit alpha o1), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCT... | CATTTGGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCT... |
Task1_train_22651 | This sequence variant lies in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental and epileptic encephalopathy, 17 | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... |
Task1_train_22652 | The gene GNAO1 (G protein subunit alpha o1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; GNAO1-related disorder | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... |
Task1_train_22653 | Gene GNAO1 (G protein subunit alpha o1) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 17 | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... |
Task1_train_22654 | A variant affecting Chromosome 16, within the gene GNAO1 (G protein subunit alpha o1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurodevelopmental disorder with involuntary movements | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... |
Task1_train_22655 | A genetic alteration is present in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... |
Task1_train_22656 | A change on Chromosome 16 affects gene GNAO1 (G protein subunit alpha o1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Abnormality of the nervous system | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... |
Task1_train_22657 | A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 17 | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... | GGTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTT... |
Task1_train_22658 | Here’s a variant in GNAO1 (G protein subunit alpha o1) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTT... | GTCCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTT... |
Task1_train_22659 | A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 17 | CCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCT... | CCATAGTCCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCT... |
Task1_train_22660 | A mutation on Chromosome 16 affecting GNAO1 (G protein subunit alpha o1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGG... | CCCCTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGG... |
Task1_train_22661 | Here is a genetic alteration in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTA... | CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTA... |
Task1_train_22662 | This sequence change occurs on Chromosome 16, altering GNAO1 (G protein subunit alpha o1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Developmental and epileptic encephalopathy, 17 | CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTA... | CTGTTTGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTA... |
Task1_train_22663 | This genomic variant is located on Chromosome 16, within the GNAO1 (G protein subunit alpha o1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Neurodevelopmental disorder with involuntary movements | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... |
Task1_train_22664 | The gene GNAO1 (G protein subunit alpha o1) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Neurodevelopmental disorder with involuntary movements | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... |
Task1_train_22665 | A variant affecting Chromosome 16, within the gene GNAO1 (G protein subunit alpha o1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Developmental and epileptic encephalopathy, 17 | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... |
Task1_train_22666 | Gene GNAO1 (G protein subunit alpha o1) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; GNAO1-related disorder | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... |
Task1_train_22667 | This sequence change occurs on Chromosome 16, altering GNAO1 (G protein subunit alpha o1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Inborn genetic diseases | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... |
Task1_train_22668 | A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... | TGTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGC... |
Task1_train_22669 | The gene GNAO1 (G protein subunit alpha o1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCT... | GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCT... |
Task1_train_22670 | This mutation is located in gene GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Neurodevelopmental disorder with involuntary movements | GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCT... | GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCT... |
Task1_train_22671 | A variant was discovered on Chromosome 16, affecting GNAO1 (G protein subunit alpha o1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Inborn genetic diseases | GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCT... | GTTGCCATCCTCAGCTACCTGGACAGCCTGGATCGGATTGGGGCCGCCGACTACCAGCCCACCGAGCAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCT... |
Task1_train_22672 | The gene GNAO1 (G protein subunit alpha o1) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | CAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATT... | CAGGACATCCTCCGAACCAGGGTCAAAACCACTGGCATCGTAGAAACCCACTTCACATTCAAGAACCTCCACTTCAGGTGAGGCCCAGAGAGGCCCCCAGGCCCTGGCGAGGGCTAAGATGGGACATGCCCAGCCTCTCAGCGCATTGCGTTTACAGCGCCCAAACATCATCCTGCCCCAGGGAACCTGCGGGCTGGGGCAGGCAGCTAGATACTAGAAGGAACCTGTCTGTGTTTCTGCCAAGGTTAGGGGCTGGAGTGAGCAGGGAGGCTTTCTGGAAGAAGATTCCCAGAGTGGGGCTGTGAGGAACAGGGAGGATT... |
Task1_train_22673 | This variant impacts the gene GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TGGCTCTGTGGAGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTA... | TGGCTCTGTGGAGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTA... |
Task1_train_22674 | A change on Chromosome 16 affects gene GNAO1 (G protein subunit alpha o1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... |
Task1_train_22675 | Given this context: Chromosome 16, gene GNAO1 (G protein subunit alpha o1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; GNAO1-related developmental delay-seizures-movement disorder spectrum | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... |
Task1_train_22676 | This sequence variant lies in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental and epileptic encephalopathy, 17 | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... |
Task1_train_22677 | Given a variant located on Chromosome 16 and affecting GNAO1 (G protein subunit alpha o1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Abnormality of the nervous system | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... |
Task1_train_22678 | This variant affects the gene GNAO1 (G protein subunit alpha o1) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neurodevelopmental disorder with involuntary movements | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... |
Task1_train_22679 | Given this context: Chromosome 16, gene GNAO1 (G protein subunit alpha o1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Inborn genetic diseases | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... | AGTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAA... |
Task1_train_22680 | Chromosome 16 houses a mutation in gene GNAO1 (G protein subunit alpha o1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neurodevelopmental disorder with involuntary movements | GTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAG... | GTGGGGAGCATGTTCCTGTGGAATCCTTGGGGTCTCAGAGCCTCACCACTCTGGCCTCATAATGTGGCTCAATGAGCTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAG... |
Task1_train_22681 | Chromosome 16 houses a mutation in gene GNAO1 (G protein subunit alpha o1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | CTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCA... | CTTGAGTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCA... |
Task1_train_22682 | This variant affects the gene GNAO1 (G protein subunit alpha o1) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Early infantile epileptic encephalopathy with suppression bursts | GTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGA... | GTGTGGACAGCCCGAGGCCCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGA... |
Task1_train_22683 | The gene GNAO1 (G protein subunit alpha o1), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Developmental and epileptic encephalopathy, 17 | CCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCG... | CCTGGACACAGGTTCACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCG... |
Task1_train_22684 | Consider this mutation in GNAO1 (G protein subunit alpha o1) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Developmental and epileptic encephalopathy, 17 | ACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAA... | ACTGGGCCTCCCAGAAGCCTCCGGCTGCCCTTTTCTGAACAGATCCCAGTGAGGTGGCTCAGGGCAAGCGAGACCTGCTCCTCCCCGGAGGGATCACACAGATGACAGGGAAATGCTCCTGGGGAATCAGAATGAAATTTACTGATTGAGGATAGGAGAGTGATGAGATCATATGAGTTTACTGAATCTGTTTAGCAGAATGAAAGGGCAGTGCCGTGTACTACAGCTCCTGGGGGGTGGGGAATAACGCCATGCCAGCTGTCCAGGTGCCCCTGAGAGGCAGCTGAGAACGCTGCCCTCCGCCGACCAACTTCAGCTAA... |
Task1_train_22685 | The gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinal dystrophy | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... |
Task1_train_22686 | The gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; BBS2-related disorder | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... |
Task1_train_22687 | This alteration in BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Retinitis pigmentosa | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... |
Task1_train_22688 | A variant found in Chromosome 16 affects BBS2 (Bardet-Biedl syndrome 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Retinitis pigmentosa 74 | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... |
Task1_train_22689 | Given this variant in gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Bardet-Biedl syndrome 2 | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... |
Task1_train_22690 | Located on Chromosome 16, this mutation impacts BBS2 (Bardet-Biedl syndrome 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Inborn genetic diseases | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... |
Task1_train_22691 | This variant affects the gene BBS2 (Bardet-Biedl syndrome 2) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Bardet-Biedl syndrome 2 | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... |
Task1_train_22692 | A genetic alteration is present in BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Retinitis pigmentosa 74 | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... |
Task1_train_22693 | Mutation context: Chromosome 16, Gene BBS2 (Bardet-Biedl syndrome 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Bardet-Biedl syndrome | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... | CCTGGGCGACAGAGCGAGACTCCGTCTCGAAAAAAAAAAAAAAAACTAGCCATAAAAATTAATAATAACAGATATAAATTGAAACACATTAAATATGTTCAAATACATGAGTATGTAAGGACTTAAAAATCTCATTGGTCACCTAGTGCATGCTGGAGATCAACACATTATTTTAAAGCTGATAAAGAAACTGTCTTTCCTGTACAAACTGTACCTCAGGGAACCAAATAATTCATTAATTCATGAGGGAACATTATTTTTCATAGAAGTATTTCAACTAATATATGAAGAAAAGAATAACAGAATTAGAATATCACTAT... |
Task1_train_22694 | Gene BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Bardet-Biedl syndrome | GTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAACTCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTGGTCCCAGTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAACTGAGATTGCCCCACTGTACTCCAGCCTGGGTGACAAAGCTAGAATCTGTCTCAAAAAAAAAAAAAAAAAAAGAACCATCTTAAACTTACATATCAGTTTTTCCATTTTCTTTTTACAGGTTTCAAACTGAGGAAATAAAAGGTCAT... | GTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAACTCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTGGTCCCAGTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAACTGAGATTGCCCCACTGTACTCCAGCCTGGGTGACAAAGCTAGAATCTGTCTCAAAAAAAAAAAAAAAAAAAGAACCATCTTAAACTTACATATCAGTTTTTCCATTTTCTTTTTACAGGTTTCAAACTGAGGAAATAAAAGGTCAT... |
Task1_train_22695 | A mutation on Chromosome 16 affecting BBS2 (Bardet-Biedl syndrome 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Bardet-Biedl syndrome 2 | ATGCTGACCATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCACCGCACTCCAGCCTGGGTGATGG... | ATGCTGACCATGCCATTTCATAGCCAAGACTACGTACAAGTAACTTAACAAAAAATACAGGCGCGGTGGGTCACCCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCTGGAGTTCAACACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAACACAAAAATTACCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCATGCGAATCACTTGAACTTGGGAGGTGGAGCTTGCAGTAAGCCGAGATCGCACCACCGCACTCCAGCCTGGGTGATGG... |
Task1_train_22696 | Here is a variant affecting BBS2 (Bardet-Biedl syndrome 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Bardet-Biedl syndrome | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... |
Task1_train_22697 | Chromosome 16 houses a mutation in gene BBS2 (Bardet-Biedl syndrome 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinitis pigmentosa | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... |
Task1_train_22698 | This variant affects gene BBS2 (Bardet-Biedl syndrome 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinitis pigmentosa 74 | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... |
Task1_train_22699 | A variant was discovered on Chromosome 16, affecting BBS2 (Bardet-Biedl syndrome 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Bardet-Biedl syndrome 2 | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... | AACAATCCAAATGTCCAGCCACTTGTCTATCACCAAGAGAGTGGATAAACAAACCATAGTATATTCACACAATGGAATATACTATTTTTGTTGCTTAGCAACAACAACAAAAGACTACTTTTATATGCAACAATATGGATAATTCTTACAAGTATTATGTTAAGTGAAAGAAGCCAGACACTATTTGTATGGAGTTCAACAACAGGAAAAGCTAATCTAAGCTGACAGAAGTCAGAACAGTGATTGTCTATGGGAGATAGAAATTGACTGGAATGGGGTACAACAATATTTTCTGAGGTGATGAAAATGTTCTCTATTTT... |
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