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_24800 | This variant affects gene MAPT (microtubule associated protein tau) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Progressive supranuclear palsy-parkinsonism syndrome | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... | GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAAT... |
Task1_train_24801 | Gene MAPT (microtubule associated protein tau) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Frontotemporal dementia | TTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGA... | TTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGA... |
Task1_train_24802 | This sequence change occurs on Chromosome 17, altering MAPT (microtubule associated protein tau). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Frontotemporal dementia | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... |
Task1_train_24803 | A mutation on Chromosome 17 affecting MAPT (microtubule associated protein tau) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pick disease | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... |
Task1_train_24804 | Located on Chromosome 17, this mutation impacts MAPT (microtubule associated protein tau). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Parkinson disease, late-onset | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... |
Task1_train_24805 | A genetic alteration is present in MAPT (microtubule associated protein tau) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Progressive supranuclear palsy-parkinsonism syndrome | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... |
Task1_train_24806 | This alteration occurs within gene MAPT (microtubule associated protein tau) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Supranuclear palsy, progressive, 1 | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... |
Task1_train_24807 | This variant affects the gene MAPT (microtubule associated protein tau) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Frontotemporal dementia | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... |
Task1_train_24808 | A mutation found in MAPT (microtubule associated protein tau) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Pick disease | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... |
Task1_train_24809 | With a mutation on Chromosome 17 in gene MAPT (microtubule associated protein tau), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Parkinson disease, late-onset | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... |
Task1_train_24810 | This sequence variant lies in MAPT (microtubule associated protein tau) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Progressive supranuclear palsy-parkinsonism syndrome | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... |
Task1_train_24811 | Here is a mutation in MAPT (microtubule associated protein tau) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Progressive supranuclear ophthalmoplegia | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... |
Task1_train_24812 | Chromosome 17 houses a mutation in gene MAPT (microtubule associated protein tau). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Frontotemporal dementia | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... | TGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAA... |
Task1_train_24813 | Given this variant in gene MAPT (microtubule associated protein tau) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Supranuclear palsy, progressive, 1 | CCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCA... | CCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCA... |
Task1_train_24814 | A change on Chromosome 17 affects gene MAPT (microtubule associated protein tau). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Frontotemporal dementia | GTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAG... | GTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAG... |
Task1_train_24815 | This alteration occurs within gene MAPT (microtubule associated protein tau) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | GCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAG... | GCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAG... |
Task1_train_24816 | A genomic change on Chromosome 17 affects MAPT (microtubule associated protein tau). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Frontotemporal dementia | TGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAGCCCTAG... | TGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAGCCCTAG... |
Task1_train_24817 | The gene MAPT (microtubule associated protein tau), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Frontotemporal dementia | CCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAGCCCTAGCCTCTCCCC... | CCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCTAGCCTGTGTCCCGCGCTCTGCTTGTCTGCGGTCTAGCCTGTGACCTGGCAGAGAGCCACCAGATGTCCCGGGCTGAGCACTGCCCTCTGAGCACCTTCACAGGAAGCCCTTCTCCTGGTGAGAAGAGATGCCAGCCCCTGGCATCTGGGGGCACTGGATCCCTGGCCTGAGCCCTAGCCTCTCCCC... |
Task1_train_24818 | This genomic variant is located on Chromosome 17, within the MAPT (microtubule associated protein tau) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Frontotemporal dementia | CTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTAC... | CTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTAC... |
Task1_train_24819 | Here is a genetic alteration in MAPT (microtubule associated protein tau) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Frontotemporal dementia | CTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGG... | CTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGG... |
Task1_train_24820 | Consider this mutation in MAPT (microtubule associated protein tau) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Supranuclear palsy, progressive, 1 | CGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATT... | CGGGCATGGTGGCAGGCACCTGTAGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATT... |
Task1_train_24821 | A mutation found in MAPT (microtubule associated protein tau) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Frontotemporal dementia | TTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACT... | TTGGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACT... |
Task1_train_24822 | With a mutation on Chromosome 17 in gene MAPT (microtubule associated protein tau), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pick disease | GGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTA... | GGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCATACCAGCCTAGGTGACAGAGTGAGACTCAGCAAAAAAAGAAAGAAAGAAAGAAAGAAATCAGTGCTGTCTATACTTCTTTCTGCAGTGATGGAAATATTCTGTATCTGTGCTGTCCAGTATAGTAGCCACTAGCTACATGTGGCACTTGAAACATGGCTGGTACAGTTGAGGAAGAGTGGCTGCCATATCGGACGACACAGCTATAGATTCTGTCACCCCACCCCGAGAGTCCAGAGCGGGGACTTCTGCCTTAGGCCCTA... |
Task1_train_24823 | Here’s a variant in MAPT (microtubule associated protein tau) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Frontotemporal dementia | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... |
Task1_train_24824 | A variant was discovered on Chromosome 17, affecting MAPT (microtubule associated protein tau). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Progressive supranuclear palsy-parkinsonism syndrome | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... |
Task1_train_24825 | This is a variant in MAPT (microtubule associated protein tau), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Supranuclear palsy, progressive, 1 | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... |
Task1_train_24826 | A genomic change on Chromosome 17 affects MAPT (microtubule associated protein tau). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Pick disease | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... |
Task1_train_24827 | The following genetic variant occurs in MAPT (microtubule associated protein tau) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Frontotemporal dementia | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... |
Task1_train_24828 | A genetic alteration is present in MAPT (microtubule associated protein tau) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Parkinson disease, late-onset | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... |
Task1_train_24829 | A genetic alteration is present in MAPT (microtubule associated protein tau) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Progressive supranuclear palsy-parkinsonism syndrome | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... | TAACATAAATATTTTTATCAAAGCCTGTATTAAATGGTCTTTCAAGAAAATACAGTAACAGGTCAGGCATGGTGGCTCATGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAAATCAGGAGTTCAAGACCAACCTGGCCAACACAGCCAAATCCCATCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCCGAGGCAGGAGAATTGCTTGATCCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCGTGGGT... |
Task1_train_24830 | A change on Chromosome 17 affects gene KANSL1 (KAT8 regulatory NSL complex subunit 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Koolen-de Vries syndrome | CAATGGTCTCAATTCTCAGCCTTCATCTTACTGATCCTGTCTGTAACAACTGACACAGACAATCCCTCCTCCTCCTCCCTCTCCAAAACACTTTCTCCCCTTGCCTTTCACATACCACACTCTCTTGGTTTTTCTTCTACTTTATTCGTCACTCCCTTCCCAATCCTTTCCTCATCTTTCACAGGAATGAGGAGGAATACCTAAGCTCTGGAATACATCAAAGGGCTAATCCATATACCTCTTCTTTATCTGAGCTCTCCAGCACTCTCTATTCCCTCCTCTATTGCATTTCTCTCTCCAGGATTTTTTTTAATTAATTA... | CAATGGTCTCAATTCTCAGCCTTCATCTTACTGATCCTGTCTGTAACAACTGACACAGACAATCCCTCCTCCTCCTCCCTCTCCAAAACACTTTCTCCCCTTGCCTTTCACATACCACACTCTCTTGGTTTTTCTTCTACTTTATTCGTCACTCCCTTCCCAATCCTTTCCTCATCTTTCACAGGAATGAGGAGGAATACCTAAGCTCTGGAATACATCAAAGGGCTAATCCATATACCTCTTCTTTATCTGAGCTCTCCAGCACTCTCTATTCCCTCCTCTATTGCATTTCTCTCTCCAGGATTTTTTTTAATTAATTA... |
Task1_train_24831 | A genetic alteration is present in KANSL1 (KAT8 regulatory NSL complex subunit 1) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Koolen-de Vries syndrome | GTAACTTAAATAGTCAACAAAGAAAGCCAATAGCATGCAGCCATTAAAAATGTTTTCCAAAAACCAACTGGGAAATATTCAGGGCACATACGTAACATGACTGTATTTGAACAAATTACTTATGTGCTAGGAAAATGTACCATAATGTTGGTAGCGAGATAATTTTGAGCTGTTGGGTTGTTTTTTTTTTTTTGGGGGGGGGGGGGGAGGGTGGGTGTCTTTTATACTTCTATGTCATTTCAGTTTCCTGAGAATTGATACACAGTATTTCATCAATTCTAAGAGGTACTCTCCCCACATGTCAACAACTTTTAAATCAA... | GTAACTTAAATAGTCAACAAAGAAAGCCAATAGCATGCAGCCATTAAAAATGTTTTCCAAAAACCAACTGGGAAATATTCAGGGCACATACGTAACATGACTGTATTTGAACAAATTACTTATGTGCTAGGAAAATGTACCATAATGTTGGTAGCGAGATAATTTTGAGCTGTTGGGTTGTTTTTTTTTTTTTGGGGGGGGGGGGGGAGGGTGGGTGTCTTTTATACTTCTATGTCATTTCAGTTTCCTGAGAATTGATACACAGTATTTCATCAATTCTAAGAGGTACTCTCCCCACATGTCAACAACTTTTAAATCAA... |
Task1_train_24832 | A genomic change on Chromosome 17 affects LRRC37A2, NSF (leucine rich repeat containing 37 member A2| N-ethylmaleimide sensitive factor, vesicle fusing ATPase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy 96 | GCTCCAAGTGCTGATAAAGGCCTTGATGCTTCTCCAGATGTCTAAATGCTAGCTCCAGGTGCAGTAAGCAGACTATTTGGAGCTGGCACATAGATTCTGAAGCACAATGTATTAATACAAATGAAAGTTTTAGGTTCTTGGTCTCCTAGAGTAATGGTTCTTAAGCCTGGTTCAGTACCAGAATCACCTGTGGTACTTGGTAAAACTATAAAGACCCTCTAATAGGCCTGTTAAATCAAAATCCCGTGGGGAATGGGACTGAGCGCCTGTATATCTCTGAAGGCTCTGGAGGTTATTCTGATATGCAGCCAAGTATGGCT... | GCTCCAAGTGCTGATAAAGGCCTTGATGCTTCTCCAGATGTCTAAATGCTAGCTCCAGGTGCAGTAAGCAGACTATTTGGAGCTGGCACATAGATTCTGAAGCACAATGTATTAATACAAATGAAAGTTTTAGGTTCTTGGTCTCCTAGAGTAATGGTTCTTAAGCCTGGTTCAGTACCAGAATCACCTGTGGTACTTGGTAAAACTATAAAGACCCTCTAATAGGCCTGTTAAATCAAAATCCCGTGGGGAATGGGACTGAGCGCCTGTATATCTCTGAAGGCTCTGGAGGTTATTCTGATATGCAGCCAAGTATGGCT... |
Task1_train_24833 | This variant impacts the gene GOSR2, LRRC37A2 (golgi SNAP receptor complex member 2| leucine rich repeat containing 37 member A2) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | GTTAGCACTCCCTTTGACAAGGATGGAAGAGGCCCTTGGGCCTGACAACACGCATACGGTTAAGGCATTACCACCTACTTCGTGGGATCTAACCATCGTTTTTGAAATGGTGCTGGGAAAACTAGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGACAACGAAA... | GTTAGCACTCCCTTTGACAAGGATGGAAGAGGCCCTTGGGCCTGACAACACGCATACGGTTAAGGCATTACCACCTACTTCGTGGGATCTAACCATCGTTTTTGAAATGGTGCTGGGAAAACTAGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGACAACGAAA... |
Task1_train_24834 | A variant found in Chromosome 17 affects GOSR2, LRRC37A2 (golgi SNAP receptor complex member 2| leucine rich repeat containing 37 member A2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Progressive myoclonic epilepsy | GTGTTTAACAGTTCAAAAATTTAATGAACTATAAGACACACTAAAAGATGTTTGGATTTTAGATCGTTATAATGTAGTATTCAGGCCTTTTTTAGGCCAAGGATGATCGCTTGGGATTATTTTGTTTTTTGCCAGCCTGGCGTGATGCTGTGCACACCGTCAGTTCTTAATAAACATTGACTTGCCAGATGAAACTTCTTCCTGGTCATTCTACCATATGGAGCTATAATACATTTTTCTGAGAGATAATGGCCCATCAGCCATACTGTTTTAGATGGGAGGGTAAGAAAGATTTGTATGTGAATGGCATTTCATAAGTG... | GTGTTTAACAGTTCAAAAATTTAATGAACTATAAGACACACTAAAAGATGTTTGGATTTTAGATCGTTATAATGTAGTATTCAGGCCTTTTTTAGGCCAAGGATGATCGCTTGGGATTATTTTGTTTTTTGCCAGCCTGGCGTGATGCTGTGCACACCGTCAGTTCTTAATAAACATTGACTTGCCAGATGAAACTTCTTCCTGGTCATTCTACCATATGGAGCTATAATACATTTTTCTGAGAGATAATGGCCCATCAGCCATACTGTTTTAGATGGGAGGGTAAGAAAGATTTGTATGTGAATGGCATTTCATAAGTG... |
Task1_train_24835 | Located on Chromosome 17, this mutation impacts GOSR2, LRRC37A2 (golgi SNAP receptor complex member 2| leucine rich repeat containing 37 member A2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Progressive myoclonic epilepsy type 6 | GTGTTTAACAGTTCAAAAATTTAATGAACTATAAGACACACTAAAAGATGTTTGGATTTTAGATCGTTATAATGTAGTATTCAGGCCTTTTTTAGGCCAAGGATGATCGCTTGGGATTATTTTGTTTTTTGCCAGCCTGGCGTGATGCTGTGCACACCGTCAGTTCTTAATAAACATTGACTTGCCAGATGAAACTTCTTCCTGGTCATTCTACCATATGGAGCTATAATACATTTTTCTGAGAGATAATGGCCCATCAGCCATACTGTTTTAGATGGGAGGGTAAGAAAGATTTGTATGTGAATGGCATTTCATAAGTG... | GTGTTTAACAGTTCAAAAATTTAATGAACTATAAGACACACTAAAAGATGTTTGGATTTTAGATCGTTATAATGTAGTATTCAGGCCTTTTTTAGGCCAAGGATGATCGCTTGGGATTATTTTGTTTTTTGCCAGCCTGGCGTGATGCTGTGCACACCGTCAGTTCTTAATAAACATTGACTTGCCAGATGAAACTTCTTCCTGGTCATTCTACCATATGGAGCTATAATACATTTTTCTGAGAGATAATGGCCCATCAGCCATACTGTTTTAGATGGGAGGGTAAGAAAGATTTGTATGTGAATGGCATTTCATAAGTG... |
Task1_train_24836 | A variant on Chromosome 17 in gene CDC27 (cell division cycle 27) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pulmonary artery atresia | GTTATCAAAAGCATGCTCCTATACTTATAGACCTCAAAATTACAATTTCTAAAGGCTATGTAATAGTGTATTAGGTTAATATGCAGGTATTTCTCCTGAATTTTCAAAATGTCAAATGAATATAGTGTGGATGGTTTATATTACGGAGACTTCTCATGGCCATAACTAGATGATGATGATGATGATGATGATGATGATGATGATGATGATGGGGAATAAGCATCAAATGAATAAGAAAAAAGCACAACATATCTGCTTTATTTGAGTGGCTTTATATATCATTATACTTGTGTTATAGATGAAGAAAAGGTATTAAACAC... | GTTATCAAAAGCATGCTCCTATACTTATAGACCTCAAAATTACAATTTCTAAAGGCTATGTAATAGTGTATTAGGTTAATATGCAGGTATTTCTCCTGAATTTTCAAAATGTCAAATGAATATAGTGTGGATGGTTTATATTACGGAGACTTCTCATGGCCATAACTAGATGATGATGATGATGATGATGATGATGATGATGATGATGATGGGGAATAAGCATCAAATGAATAAGAAAAAAGCACAACATATCTGCTTTATTTGAGTGGCTTTATATATCATTATACTTGTGTTATAGATGAAGAAAAGGTATTAAACAC... |
Task1_train_24837 | A genomic change on Chromosome 17 affects MYL4 (myosin light chain 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Atrial fibrillation, familial, 18 | TTGCCTGTAAAACAGCATGGGGCCAGATGATCTCTAAGGGTCCTTCTGGCTCTGAAGGCAATGATCTGGGGCATGGAACCTGTAGTTAGAGAGCTGGGAAATGGGCAGATGTGGGCTCCAGGGCACCCAGAATTGCAGGCTTAGGAGCTAACAGCAACCAGGATTCTGTAGTCTAGCAATCTTGCTTTACAGGTGAGGAAACTGGGCCTAGAAAGGCGAAGTGATTTTTTTGCCTCTCTCAGCTTTATTCCTCTTTTCCTCTGAACTGTAGAGTCTAAAGATTCAGCACAAAGCAGTTTTGTGTAGTGGATACATAAGCT... | TTGCCTGTAAAACAGCATGGGGCCAGATGATCTCTAAGGGTCCTTCTGGCTCTGAAGGCAATGATCTGGGGCATGGAACCTGTAGTTAGAGAGCTGGGAAATGGGCAGATGTGGGCTCCAGGGCACCCAGAATTGCAGGCTTAGGAGCTAACAGCAACCAGGATTCTGTAGTCTAGCAATCTTGCTTTACAGGTGAGGAAACTGGGCCTAGAAAGGCGAAGTGATTTTTTTGCCTCTCTCAGCTTTATTCCTCTTTTCCTCTGAACTGTAGAGTCTAAAGATTCAGCACAAAGCAGTTTTGTGTAGTGGATACATAAGCT... |
Task1_train_24838 | Here is a mutation in ITGB3 (integrin subunit beta 3) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Glanzmann thrombasthenia | GACAGTTGTGGGGGGGCTTATAATGTTATTTTTAGTTTACAGGTTCTTACAATTTACATAGAATTGTTCAATATTAATTCAACATAGGCTACTGTATGATAAGTTAAGGAGGAATATTGTAATACCTAGAGCAAACACACACACACACACACACACACACACACACACATGCAAACGAGGTGTAGCTAGGAAGCCAGTAGAGAAAAAAAAATTATCCCAAAAGAAAGCAGAAAAAGAGAAACAGAGAAACCAGCCAAAAAGATAGAACGAATAACAAGATAGTAAATGTAAACACAACCATCAATTACTATACTAAATGT... | GACAGTTGTGGGGGGGCTTATAATGTTATTTTTAGTTTACAGGTTCTTACAATTTACATAGAATTGTTCAATATTAATTCAACATAGGCTACTGTATGATAAGTTAAGGAGGAATATTGTAATACCTAGAGCAAACACACACACACACACACACACACACACACACACATGCAAACGAGGTGTAGCTAGGAAGCCAGTAGAGAAAAAAAAATTATCCCAAAAGAAAGCAGAAAAAGAGAAACAGAGAAACCAGCCAAAAAGATAGAACGAATAACAAGATAGTAAATGTAAACACAACCATCAATTACTATACTAAATGT... |
Task1_train_24839 | This genomic variant is located on Chromosome 17, within the ITGB3 (integrin subunit beta 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glanzmann thrombasthenia | GAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTAT... | GAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTAT... |
Task1_train_24840 | This gene mutation involves ITGB3 (integrin subunit beta 3) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Glanzmann thrombasthenia | GGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAG... | GGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAG... |
Task1_train_24841 | Located on Chromosome 17, this mutation impacts ITGB3 (integrin subunit beta 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Glanzmann thrombasthenia | CTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGT... | CTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGT... |
Task1_train_24842 | This variant affects gene ITGB3 (integrin subunit beta 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Glanzmann thrombasthenia | GTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCA... | GTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCA... |
Task1_train_24843 | This gene mutation involves ITGB3 (integrin subunit beta 3) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Glanzmann thrombasthenia | GGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAA... | GGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAA... |
Task1_train_24844 | The gene ITGB3 (integrin subunit beta 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glanzmann thrombasthenia | GGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGT... | GGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGT... |
Task1_train_24845 | Located on Chromosome 17, this mutation impacts ITGB3 (integrin subunit beta 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Glanzmann thrombasthenia | ACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTC... | ACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTC... |
Task1_train_24846 | This variant impacts the gene ITGB3 (integrin subunit beta 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Glanzmann thrombasthenia | ATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAA... | ATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAA... |
Task1_train_24847 | This variant impacts the gene ITGB3 (integrin subunit beta 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Glanzmann thrombasthenia | GCCATTTACAAGGCATATGGCCTTGGGAAAGTTACTTAACCTCTCTGACCTCAAAGGGTTGTTATAACAAATGAAAAGGATAACATACTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAG... | GCCATTTACAAGGCATATGGCCTTGGGAAAGTTACTTAACCTCTCTGACCTCAAAGGGTTGTTATAACAAATGAAAAGGATAACATACTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAG... |
Task1_train_24848 | A variant found in Chromosome 17 affects ITGB3 (integrin subunit beta 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Glanzmann thrombasthenia 2 | GAAAGTTACTTAACCTCTCTGACCTCAAAGGGTTGTTATAACAAATGAAAAGGATAACATACTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATG... | GAAAGTTACTTAACCTCTCTGACCTCAAAGGGTTGTTATAACAAATGAAAAGGATAACATACTAAAGAACTTGCGGCTGGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATG... |
Task1_train_24849 | A mutation found in ITGB3 (integrin subunit beta 3) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Glanzmann thrombasthenia | GGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCT... | GGGCATGGTGGACCAGCTGGCCGGGCCTGTAGTCACAGCTCTTTCGGAGGGCAAGGCACATGGATCACCTGAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCT... |
Task1_train_24850 | The gene ITGB3 (integrin subunit beta 3) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Glanzmann thrombasthenia | GAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCTAGGCAATATAACAAGACTCCCATCTGTACAAAAACAAAAATAATTAGCCAGCTGCAGTGGCACATGCCTG... | GAGGTCAGGAGTTCAAGGTCAGGCTGGCCAACATGGTGAGACCCCATCTCTACTAAAAATACAAACATTAGCCGGGCATGGTGGTGCATGCCTGTAGTCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACACGGGAGGTGGGGGTTTACAGTGAGTCAAGATGGCACCACTGCACTCCAGCCTGGGTGACAGTGAGACTCTCAAAAAAAAAAGAAAGAACTTGGCACAAGCCCACAAGCCTAGGCAATATAACAAGACTCCCATCTGTACAAAAACAAAAATAATTAGCCAGCTGCAGTGGCACATGCCTG... |
Task1_train_24851 | Gene EFCAB13-DT, ITGB3 (EFCAB13 divergent transcript| integrin subunit beta 3) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Bleeding disorder, platelet-type, 24 | GGGAAGCAGAGCTCTGCAGAGTATACTCAGCCTGACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACAGTGGCTAAGGAAGCAAATAAGTTAGTGAAAACAGCTGGGTGTAAGAAGATCCGTTACA... | GGGAAGCAGAGCTCTGCAGAGTATACTCAGCCTGACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACAGTGGCTAAGGAAGCAAATAAGTTAGTGAAAACAGCTGGGTGTAAGAAGATCCGTTACA... |
Task1_train_24852 | Here is a variant affecting EFCAB13-DT, ITGB3 (EFCAB13 divergent transcript| integrin subunit beta 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | GACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACAGTGGCTAAGGAAGCAAATAAGTTAGTGAAAACAGCTGGGTGTAAGAAGATCCGTTACAACGGTAGCTGATATTTACTGAGCACTTACTCTG... | GACCCCCAGAGGGGTGACATGCCTCTGTTTTAGTTGTTGACTGGGGTTGAACAGGAAGGCAGCTTTCAATAGGGTTATGATTTTAGATGACTAAGTATTTTGGGAAAGAACCCAAAATATTGTCTTGGCTGGCAGGTCCTGGTCTCTAAGAATGCAAAAAATGTCATTAGGTTCACAGCCCTCAGGAATGTAAATATCTGAACCAGGATAACAGACACAAATACTTACAGTGGCTAAGGAAGCAAATAAGTTAGTGAAAACAGCTGGGTGTAAGAAGATCCGTTACAACGGTAGCTGATATTTACTGAGCACTTACTCTG... |
Task1_train_24853 | Here’s a variant in PNPO (pyridoxamine 5'-phosphate oxidase) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inborn genetic diseases | CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTTCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGACAACTTCAACAGGAAAGTAAATCTACTCAACTTTCTCTCAATTATGCTGATGGAGGAAAATGATGGCAGCACAAAAAAATCCAACCAGTGGAGAATCCATAGACCAATATCATTAAGCCTTGAGACATGTATTATTTCTTTGCAGCAAAATTGTCTTCCAGATTCTATCTGGCTCAA... | CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTTCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGACAACTTCAACAGGAAAGTAAATCTACTCAACTTTCTCTCAATTATGCTGATGGAGGAAAATGATGGCAGCACAAAAAAATCCAACCAGTGGAGAATCCATAGACCAATATCATTAAGCCTTGAGACATGTATTATTTCTTTGCAGCAAAATTGTCTTCCAGATTCTATCTGGCTCAA... |
Task1_train_24854 | The gene PNPO (pyridoxamine 5'-phosphate oxidase) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pyridoxal phosphate-responsive seizures | CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTTCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGACAACTTCAACAGGAAAGTAAATCTACTCAACTTTCTCTCAATTATGCTGATGGAGGAAAATGATGGCAGCACAAAAAAATCCAACCAGTGGAGAATCCATAGACCAATATCATTAAGCCTTGAGACATGTATTATTTCTTTGCAGCAAAATTGTCTTCCAGATTCTATCTGGCTCAA... | CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTTCAGTGAGACGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGACAACTTCAACAGGAAAGTAAATCTACTCAACTTTCTCTCAATTATGCTGATGGAGGAAAATGATGGCAGCACAAAAAAATCCAACCAGTGGAGAATCCATAGACCAATATCATTAAGCCTTGAGACATGTATTATTTCTTTGCAGCAAAATTGTCTTCCAGATTCTATCTGGCTCAA... |
Task1_train_24855 | This variant impacts the gene PNPO (pyridoxamine 5'-phosphate oxidase) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pyridoxal phosphate-responsive seizures | GAAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCT... | GAAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCT... |
Task1_train_24856 | Given a variant located on Chromosome 17 and affecting PNPO (pyridoxamine 5'-phosphate oxidase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; PNPO-related disorder | GAAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCT... | GAAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCT... |
Task1_train_24857 | This variant affects the gene PNPO (pyridoxamine 5'-phosphate oxidase) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Neuronopathy, distal hereditary motor, type 5A | AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTC... | AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTC... |
Task1_train_24858 | A variant was discovered on Chromosome 17, affecting PNPO (pyridoxamine 5'-phosphate oxidase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Pyridoxal phosphate-responsive seizures | AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTC... | AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTC... |
Task1_train_24859 | Here is a genetic alteration in PNPO (pyridoxamine 5'-phosphate oxidase) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Pyridoxal phosphate-responsive seizures | AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTC... | AAAACCCTCTGCTCGCATGTTGCTGCTGAAGGGCTTCGGGAAAGATGGCTTCCGCTTCTTCACTAACTTCGAGAGTCGAAAAGGAAAAGAGCTGGTGGGTGAAAAGAGCTAGTAATCTTTCCCAGGGCCTGCAGGGTTTGGCTCTTGCTTCCTCAGTCACCTTCTTATGCCACCCCACCCCCCCAGTCTACTTGCTCTCTGTGTGCAGGTGCCCTCCTGCCATGAGGCCTTGGCACTTGCTGTGCTCTTTGCCATAAATGAATGAATGCACTTTCTAACCAGCCTCACCCCATCAGCCATGACCTGTTCCTTCAGATCTC... |
Task1_train_24860 | Consider a variant on Chromosome 17 in gene HOXB1 (homeobox B1). Determine its clinical classification and disease relevance. | Pathogenic; Facial paresis, hereditary congenital, 3 | ACCCGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGAAAGCGGAGGCGGGCAGATCACTTGAGCCCGGGAGTTGGAGACCATCCTGGGCGAAATGGCAAAACCCTGTCTCTACAAAAATACAAAAATCAGCCGGGAGTGGTGGTGTGCGCCTGTGGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAACGGAGATTATGCCACTGTACTCCAGCCTGAGCAACAGAGCGAGACCCTGTCTCAAACAAACAAACAAACAAAAACCAAAACACAAAACCAAAAA... | ACCCGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGAAAGCGGAGGCGGGCAGATCACTTGAGCCCGGGAGTTGGAGACCATCCTGGGCGAAATGGCAAAACCCTGTCTCTACAAAAATACAAAAATCAGCCGGGAGTGGTGGTGTGCGCCTGTGGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAACGGAGATTATGCCACTGTACTCCAGCCTGAGCAACAGAGCGAGACCCTGTCTCAAACAAACAAACAAACAAAAACCAAAACACAAAACCAAAAA... |
Task1_train_24861 | This variant impacts the gene HOXB1 (homeobox B1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Facial paresis, hereditary congenital, 3 | CCCGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGAAAGCGGAGGCGGGCAGATCACTTGAGCCCGGGAGTTGGAGACCATCCTGGGCGAAATGGCAAAACCCTGTCTCTACAAAAATACAAAAATCAGCCGGGAGTGGTGGTGTGCGCCTGTGGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAACGGAGATTATGCCACTGTACTCCAGCCTGAGCAACAGAGCGAGACCCTGTCTCAAACAAACAAACAAACAAAAACCAAAACACAAAACCAAAAAA... | CCCGGCGCGGGGGCTCACGCCTGTAATCCCAGCACTTTGGAAAGCGGAGGCGGGCAGATCACTTGAGCCCGGGAGTTGGAGACCATCCTGGGCGAAATGGCAAAACCCTGTCTCTACAAAAATACAAAAATCAGCCGGGAGTGGTGGTGTGCGCCTGTGGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAACCTGAGAGGCAGAGGTTGCAGTGAACGGAGATTATGCCACTGTACTCCAGCCTGAGCAACAGAGCGAGACCCTGTCTCAAACAAACAAACAAACAAAAACCAAAACACAAAACCAAAAAA... |
Task1_train_24862 | Mutation context: Chromosome 17, Gene SPOP (speckle type BTB/POZ protein). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neurodevelopmental disorder with microcephaly and dysmorphic facies | AGAATTTCATATGGGGAAGTGAAGGGAGAGAGCGAGCGAGCTGGAACTTGGCCTCGGATTTAACCACAGGATAAGAGACTGCCAAGTGAGGGCAGGCCAACTGGCTTCCAAATCAAGACTGTGAAGACAGGGGTTGGAGCAGCTGGAATGGATTGGGAAGAGAGGGGGAAGCATATGAGAAAAGGCTGGACCCACTGTGGACTCAAAAAAGCTGCAGTAAAGGTTATGGTATTGCCTAACACTGCCAGATGCAGTATTTAGGGGAGATTTTCTTCAGAGAACAGTTTAAAGATTGGCTTTCATTTCCAATAGAAACTAGA... | AGAATTTCATATGGGGAAGTGAAGGGAGAGAGCGAGCGAGCTGGAACTTGGCCTCGGATTTAACCACAGGATAAGAGACTGCCAAGTGAGGGCAGGCCAACTGGCTTCCAAATCAAGACTGTGAAGACAGGGGTTGGAGCAGCTGGAATGGATTGGGAAGAGAGGGGGAAGCATATGAGAAAAGGCTGGACCCACTGTGGACTCAAAAAAGCTGCAGTAAAGGTTATGGTATTGCCTAACACTGCCAGATGCAGTATTTAGGGGAGATTTTCTTCAGAGAACAGTTTAAAGATTGGCTTTCATTTCCAATAGAAACTAGA... |
Task1_train_24863 | The gene SPOP (speckle type BTB/POZ protein), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; SPOP-related neurodevelopmental condition | ACTGTGATCTGTTTACATAACATCTAACCTCATGTAAAACCAACTAAATTCTCATTTCTTCATTCAGGCAACTGAGTATAATCTGTGACGTTAGATTTACACAGAATTCACACTCCAAGTTTATCAGACATAAAAGAACTGCCACATTTTATGTATTTATTATAGATGCTATCACTCTAGTATTTCCTTCTTTTACTTGGTAATTAAAAAGGAGAGGGGATACCAAATTATGCAAACTATATTTTACATATTTAGTGTGGTATTATAAGAAACTGCCTCCAAAGTTTTCTAATCATTTGCAACTACTCTGTTGCAATACA... | ACTGTGATCTGTTTACATAACATCTAACCTCATGTAAAACCAACTAAATTCTCATTTCTTCATTCAGGCAACTGAGTATAATCTGTGACGTTAGATTTACACAGAATTCACACTCCAAGTTTATCAGACATAAAAGAACTGCCACATTTTATGTATTTATTATAGATGCTATCACTCTAGTATTTCCTTCTTTTACTTGGTAATTAAAAAGGAGAGGGGATACCAAATTATGCAAACTATATTTTACATATTTAGTGTGGTATTATAAGAAACTGCCTCCAAAGTTTTCTAATCATTTGCAACTACTCTGTTGCAATACA... |
Task1_train_24864 | This is a variant in DLX3 (distal-less homeobox 3), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | GGCAAGGGAGGGGGAAAGGGAGTTCCTTTTCCCTGTGCTCCTCGATGATTCCTGAGTGGCTAGGACGGAGGCGCCTTCTGCCTGGTCCTGGGGTCCTTTGTCAAGGGTGCAGGCCAGATGGGTGCTCAGTACACAGCCCCAGGGTTGGGCGGGGGCCCGGGAGAGGCATGGTGCAGGGTGGCTGGCTGAGGCGGCTGCTGCTGTAAGTGGGGTCCACTCAGGTTCTGTGCGTGATACCAGGAGTTGGTGGGGTCGTCCAGGTAGCTGGGGGAGGCACTGTATGGGAGCGGCGGGGGCAGCTGACTGCGGGCAGGGGCCGG... | GGCAAGGGAGGGGGAAAGGGAGTTCCTTTTCCCTGTGCTCCTCGATGATTCCTGAGTGGCTAGGACGGAGGCGCCTTCTGCCTGGTCCTGGGGTCCTTTGTCAAGGGTGCAGGCCAGATGGGTGCTCAGTACACAGCCCCAGGGTTGGGCGGGGGCCCGGGAGAGGCATGGTGCAGGGTGGCTGGCTGAGGCGGCTGCTGCTGTAAGTGGGGTCCACTCAGGTTCTGTGCGTGATACCAGGAGTTGGTGGGGTCGTCCAGGTAGCTGGGGGAGGCACTGTATGGGAGCGGCGGGGGCAGCTGACTGCGGGCAGGGGCCGG... |
Task1_train_24865 | Given this variant in gene DLX3 (distal-less homeobox 3) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Tricho-dento-osseous syndrome | GGCAAGGGAGGGGGAAAGGGAGTTCCTTTTCCCTGTGCTCCTCGATGATTCCTGAGTGGCTAGGACGGAGGCGCCTTCTGCCTGGTCCTGGGGTCCTTTGTCAAGGGTGCAGGCCAGATGGGTGCTCAGTACACAGCCCCAGGGTTGGGCGGGGGCCCGGGAGAGGCATGGTGCAGGGTGGCTGGCTGAGGCGGCTGCTGCTGTAAGTGGGGTCCACTCAGGTTCTGTGCGTGATACCAGGAGTTGGTGGGGTCGTCCAGGTAGCTGGGGGAGGCACTGTATGGGAGCGGCGGGGGCAGCTGACTGCGGGCAGGGGCCGG... | GGCAAGGGAGGGGGAAAGGGAGTTCCTTTTCCCTGTGCTCCTCGATGATTCCTGAGTGGCTAGGACGGAGGCGCCTTCTGCCTGGTCCTGGGGTCCTTTGTCAAGGGTGCAGGCCAGATGGGTGCTCAGTACACAGCCCCAGGGTTGGGCGGGGGCCCGGGAGAGGCATGGTGCAGGGTGGCTGGCTGAGGCGGCTGCTGCTGTAAGTGGGGTCCACTCAGGTTCTGTGCGTGATACCAGGAGTTGGTGGGGTCGTCCAGGTAGCTGGGGGAGGCACTGTATGGGAGCGGCGGGGGCAGCTGACTGCGGGCAGGGGCCGG... |
Task1_train_24866 | A variant was discovered in gene SGCA (sarcoglycan alpha), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D | ACAAACGTGACAAGATCCTAGTCTTCGAGGAGCTTGGAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGG... | ACAAACGTGACAAGATCCTAGTCTTCGAGGAGCTTGGAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGG... |
Task1_train_24867 | A variant was discovered in gene SGCA (sarcoglycan alpha), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | GTGACAAGATCCTAGTCTTCGAGGAGCTTGGAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGA... | GTGACAAGATCCTAGTCTTCGAGGAGCTTGGAGCAGTCTGTGTGATTGTGTTGTGCCCAGGAAAGCACGCAGGGGCTAAGGGGACACCCAGCTTGGCCTAGCAGAAGAAGGGAGGTCAGAAAGGCTTCAGAGAGGAGAGGACATCTGTGCAGAGTCTGGAAAGGTGACTGGAAGGTTGCTGCTTGAATGAAGGTGGGAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGA... |
Task1_train_24868 | This alteration in SGCA (sarcoglycan alpha) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D | GAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTC... | GAAGGGAACTGCAGGCAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTC... |
Task1_train_24869 | A genomic change on Chromosome 17 affects SGCA (sarcoglycan alpha). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D | CAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGT... | CAGAGGCAATAGCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGT... |
Task1_train_24870 | With a mutation on Chromosome 17 in gene SGCA (sarcoglycan alpha), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | GCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAG... | GCCTGGACGACGGCTTGGAGACTTGAGAGAGTCTGCCAAGCTAGGCAGGAGCGGAGTGAGGCTGAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAG... |
Task1_train_24871 | A change on Chromosome 17 affects gene SGCA (sarcoglycan alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D | GAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTC... | GAGCAGGGGCCTGGGGTTGGAAGGGTAGGGGCAGAGGATGGGATTCTAGACCAGCTGACCAGGTTCAGGACAGGCCAGAAAGCCACCAACTGGGGATGAGCTGGGAACTCAGGGGCCATGAGAACCATTAGAGTTTTAAGGGAGGATGGAGGTGGCCTGGTTGGTGGTTTAAAAAACACTGTGGCCACTGGAGGGGACGGTTGGAGGGACAATGAGTGCGAGGAGGGTGTCTATCCCAGATTTGGTGCATGCTCCAGGCGGGGAGGGGAGGCTGACGCTGGGACCCAGCTGCCCCGAGCCACCTCCCTCCTTCCCTCCTC... |
Task1_train_24872 | Here is a variant affecting SGCA (sarcoglycan alpha) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D | GGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACAC... | GGCCCTTTAATGAGCTGGCTGGGCCGCAGCTTCTAAGCCCAGGCTAAATTTGGCCCTGGGAGGGAGGGTGGAGCTGGCGGCCAGGTCCTCTGCTCCTCTCTTGGACTTAGGATTCCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACAC... |
Task1_train_24873 | This variant impacts the gene SGCA (sarcoglycan alpha) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D | CCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCT... | CCTTTTGCTCAGCTCCTACTGGCCTCTAGGGCAGGCCTTCTTCTTCCCTGTATTTTAGGGGAGGAAGGTGGGGGTCTCCAGGCCCAGAATGGCTACCCTTCCTCCTCTGTAGGCTCCTGGCCCCGTCTTCCTCTCCTCTGGGCTCTTGGGCATTTAGCATGGGATTCTTTTCCCAGTGCCTTTCACACATACACACCCTCACACACACACACACCCACACACACCCTCACACACACCCTCACGGCACCCTCACACACACACCCTCACACACACCCTCACACACCCTCACACACCCTCACACACACACCCTCACACACCCT... |
Task1_train_24874 | A mutation found in SGCA (sarcoglycan alpha) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2D | GATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAG... | GATGGATGGGGCATTGAGGGGCCTGAAGGGGTGTGCAGGGATGTGGGGAGGAGCTTCAAGGAGGCTTTGCGGGGCAGAGCTGGGGCTGGGTGCAGCCTGAGGTGTCCACCTGGCCTTCCCAGGCCCCCTGCTGCCATACCAAGCCGAGTTCCTGGTGCGCAGCCACGATGCGGAGGAGGTGCTGCCCTCAACACCTGCCAGCCGCTTCCTCTCAGCCTTGGGGGGACTCTGGGAGCCCGGAGAGCTTCAGCTGCTCAACGTCACCTCTGCCTTGGACCGTGGGGGCCGTGTCCCCCTTCCCATTGAGGGCCGAAAAGAAG... |
Task1_train_24875 | Given this context: Chromosome 17, gene COL1A1 (collagen type I alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Osteogenesis imperfecta type I | CTCTCCCAGGTGTCTGTCTCCCTCACTCCCCCAGGGCCAGGACAGCGAGCAGGGAGCACGCCTTCCTCCTGGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGT... | CTCTCCCAGGTGTCTGTCTCCCTCACTCCCCCAGGGCCAGGACAGCGAGCAGGGAGCACGCCTTCCTCCTGGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGT... |
Task1_train_24876 | With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta type I | GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTA... | GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTA... |
Task1_train_24877 | This mutation is located in gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; COL1A1-related disorder | GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTA... | GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTA... |
Task1_train_24878 | With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta type I | GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTA... | GGTCCCTCCCAGACCCTCGCCAGGCTCAGCAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTA... |
Task1_train_24879 | With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta type I | CAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGG... | CAGACCCCTCTCCTGTTGCGTTGCTCCTTCGGCAGGAGGTCAGCGTGGGTGAGAAGGGAGCAGAGGCCAGATGACCCTTCATGTCAGTTCAAGGAGAGGCCCCCAGGTCCTCCTCACGGGTTCCACTCCCCTCACCCTCCCAGTATCCATGAGCATCCCACCGCCACCAAGTGCAGGGCATCCAGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGG... |
Task1_train_24880 | Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | AGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCC... | AGGGGGTGGAGAGTGGATGGGCTTGAAGGGGAGTGGGTATGAGGTTTGGACAACCCCAGATGTGAAGAGTGTGTGTGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCC... |
Task1_train_24881 | This variant affects gene COL1A1 (collagen type I alpha 1 chain) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Osteogenesis imperfecta type I | TGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAAT... | TGTGTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAAT... |
Task1_train_24882 | With a mutation on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAA... | GTGTTGTGCACGTGGATTGCCTGTATGGTATTGCAGGGGAGAAGAGGATTTGGAAAAGGTGCAAGGAAATTGCAAGAATAGAAAATGAAAGAGGAAGTAGAAAGGTTTGCGGTATAAGAAGGGTGAGAGAAAGGGGAGTGGGGTTATGGAGGGATCTAGAAGAGAATAGTGGGGAGGGAAAGGGCAGGAATGGAAGGCAAGCCCATCACCCCAAAGCCCCTTCCCCATGTCTACCCCTCCCCCAACTCCAAAGAAGGAAATTAGGAGGCCACTGCGGATTATGTTTGGGTCATTTCCACATGCTTTATTCCAGCAATCAA... |
Task1_train_24883 | The gene COL1A1 (collagen type I alpha 1 chain), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTA... | GGATGGGCTGCAGCTGTGGAGGAGGGTTTCAGAGGAGAGAGGTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTA... |
Task1_train_24884 | A variant was discovered in gene COL1A1 (collagen type I alpha 1 chain), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Osteogenesis imperfecta type 2, thin-bone | GTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCC... | GTCGGAGAGCAGAGGCCTGAGAAGCCAGAGGCAGGTGGAGAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCC... |
Task1_train_24885 | This sequence variant lies in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Osteogenesis imperfecta type I | GAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCA... | GAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCA... |
Task1_train_24886 | The gene COL1A1 (collagen type I alpha 1 chain) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; COL1A1-related disorder | GAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCA... | GAGAGGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCA... |
Task1_train_24887 | This is a variant in COL1A1 (collagen type I alpha 1 chain), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Osteoporosis | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... |
Task1_train_24888 | Consider a variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain). Determine its clinical classification and disease relevance. | Pathogenic; Osteogenesis imperfecta type III | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... |
Task1_train_24889 | Here is a mutation in COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... |
Task1_train_24890 | A variant on Chromosome 17 in gene COL1A1 (collagen type I alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Infantile cortical hyperostosis | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... |
Task1_train_24891 | A variant has been detected on Chromosome 17 in COL1A1 (collagen type I alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... |
Task1_train_24892 | This sequence change occurs on Chromosome 17, altering COL1A1 (collagen type I alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Ehlers-Danlos syndrome, arthrochalasia type | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... |
Task1_train_24893 | This variant lies on Chromosome 17 and affects the gene COL1A1 (collagen type I alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Osteogenesis imperfecta type I | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... |
Task1_train_24894 | Gene COL1A1 (collagen type I alpha 1 chain), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Osteogenesis imperfecta, perinatal lethal | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... |
Task1_train_24895 | This variant affects the gene COL1A1 (collagen type I alpha 1 chain) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Osteogenesis imperfecta type I | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... | GGGTGGAAAGTGAGCAGCGGGCTGGGCTGGAGCCGCACACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGAC... |
Task1_train_24896 | The gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Osteogenesis imperfecta type I | ACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAG... | ACGCTCTCCTCCCATGTTAAATAGCACCTTTAGAAAAATTCACAAGTCCCCATCCACAAAAAAAAAAAAAAAAAAAGAAAAATATCAAGGAATAAAAATAGACTTTGAACAAAAAGGAACATTTGCTGGCCTGGGGGGGCATCTCAATTTCTATAGCACCAGTGATTCCCTCCCCACCCCACCCATCACATAGATGTAGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAG... |
Task1_train_24897 | A variant found in Chromosome 17 affects COL1A1 (collagen type I alpha 1 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Osteogenesis imperfecta type I | AGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAG... | AGCACCTTTGGTATAAAATGGGGAGCCGCTTCCACCCTGCCCCCATCCCCGCCCCCAGGCAGTTGCCCCGGTGACACATCAAGACAAGAACGAGGTAGTCTTTCAGCAACACAGTTACACAAGGAACAGAACAGTCTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAG... |
Task1_train_24898 | A variant has been detected on Chromosome 17 in COL1A1 (collagen type I alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Osteogenesis imperfecta with normal sclerae, dominant form | CTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTC... | CTCTCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTC... |
Task1_train_24899 | This variant impacts the gene COL1A1 (collagen type I alpha 1 chain) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTG... | TCCCGCCCAGCCCTGCGGCACAAGGGATTGACACGCGTTCCCCAAATCCGATGTTTCTGCTTTGTCGTGGCCCTTCCTGACTCTCCTCCGAACCCAGTGAGGGGCTGGTGGCTCCCCCGGCATGACCCCCTCAAAAACGAAGGGGAGATGTTGCAAGAGCCATGGGAGCGCCAGATGGCAAGGCTTCTTTGGCAGTCTGAGAACCCCAGGTCCCCCAGGGCCTGGGGGTGCTGGGCGGGCAGGAGCGGGCTGAGGGTGGGGGCCACTTGGGTGTTTGAGCATTGCCTTTGATTGCTGGGCAGACAATACATTGTTTCCTG... |
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