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_14700 | This gene mutation involves UROS (uroporphyrinogen III synthase) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cutaneous porphyria | CCCTTTCAAACTGGCTTTTGCCTACTCAGCCTTCACGTTCTCAGGAATCTCCAGCCCAATTGCCAAAGCAAGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTA... | CCCTTTCAAACTGGCTTTTGCCTACTCAGCCTTCACGTTCTCAGGAATCTCCAGCCCAATTGCCAAAGCAAGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTA... |
Task1_train_14701 | Here is a genetic alteration in UROS (uroporphyrinogen III synthase) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CACGTTCTCAGGAATCTCCAGCCCAATTGCCAAAGCAAGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTAGTGAACCTTTGTCCCCGATTCTGTCCCCTACCC... | CACGTTCTCAGGAATCTCCAGCCCAATTGCCAAAGCAAGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTAGTGAACCTTTGTCCCCGATTCTGTCCCCTACCC... |
Task1_train_14702 | Gene UROS (uroporphyrinogen III synthase), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cutaneous porphyria | AGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTAGTGAACCTTTGTCCCCGATTCTGTCCCCTACCCCGAGGCTCTGAAAAGGAACCTATTTTCCCTGCCCTGC... | AGCCCAGGCTCCCGACTCACGCAATCGTCGAGGACACTGCGCCTGCTGCTTTGCTCATCTCCCGCCCCGTATGAGCTCCCTGCCTTCCTGATCCCAAACAGAACCATCTTTAACCACGCCCTGGCGCACTCCATCTGAAACAAGGCTTCGCCAGAACTGTTAATAGCCTCACATCTCTTCAAAAGGTGGCTTCGGGTTGTGTGGGGATGAAAGGACACACGTGTGGTGTTTACTAGCATGTAGACATTTAGTGAACCTTTGTCCCCGATTCTGTCCCCTACCCCGAGGCTCTGAAAAGGAACCTATTTTCCCTGCCCTGC... |
Task1_train_14703 | This alteration occurs within gene UROS (uroporphyrinogen III synthase) located on Chromosome 10. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CAGCGCCAAGTCCCAGTGTCGAGGGACAACTCACAACCCACACACAGTGCCTTCGTGGCCCCCAAGCAGTCCATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTT... | CAGCGCCAAGTCCCAGTGTCGAGGGACAACTCACAACCCACACACAGTGCCTTCGTGGCCCCCAAGCAGTCCATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTT... |
Task1_train_14704 | Given a variant located on Chromosome 10 and affecting UROS (uroporphyrinogen III synthase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cutaneous porphyria | ATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTTCTTGGTTCAGATGCTGAGTATCCATTTGTGCTTTTAAATATGCTCACTTTGAAAGAAGATAGAGTATAAATC... | ATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTTCTTGGTTCAGATGCTGAGTATCCATTTGTGCTTTTAAATATGCTCACTTTGAAAGAAGATAGAGTATAAATC... |
Task1_train_14705 | A variant affecting Chromosome 10, within the gene UROS (uroporphyrinogen III synthase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cutaneous porphyria | ATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTTCTTGGTTCAGATGCTGAGTATCCATTTGTGCTTTTAAATATGCTCACTTTGAAAGAAGATAGAGTATAAATC... | ATAGTCACTGTGAGCAAGGCCAGCTCTGTCACTTTCTCCTCCTCAGCAATGGCAGAGGTGTTAACTACTGGCAGGCAGGGTAATCAATCACTGTAGTAAGAGGCGAGGGGGCTACTGAGAGCTCCTCAGAGTGTCTGGAGGGCTGCAGAAATGGGTGTGACAGATACAGGATAGGAACACGCACTCAGCCCCCAGCTGCCATGGGTGTGGACAATGCAGGCAGCAGTCTATTCAGAAAGGCCTGAGTTCTTGGTTCAGATGCTGAGTATCCATTTGTGCTTTTAAATATGCTCACTTTGAAAGAAGATAGAGTATAAATC... |
Task1_train_14706 | This gene mutation involves UROS (uroporphyrinogen III synthase) on Chromosome 10. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | GAGTGTGGGCTGGACTTACTTGATTCAAGCCAAAAGAAATGGCAGAAGAAATGGATGCCACTTCCAAGATTAGGTTATAAAAAGACTGTGGCTTCAGTGGTAGGTGCTCTCTTTTGCTCTCTCTTGGATTGCCTTGCGACAGGGGACGCCAGCTGCCATGTCTTAGGTAGCCCTCTCGGGAGGCCCATGTGAGTGAGCTGGGAAGCAGATCTTCTGAGGCCACTGACAGCTATGTGAGTGATTTTGGAAGCAGACCCTCCCCTAAGTCAAGCCTCAAAATGTCTGTAGCCCTGACCACCAGCTTGACCATGGCCTGGTTA... | GAGTGTGGGCTGGACTTACTTGATTCAAGCCAAAAGAAATGGCAGAAGAAATGGATGCCACTTCCAAGATTAGGTTATAAAAAGACTGTGGCTTCAGTGGTAGGTGCTCTCTTTTGCTCTCTCTTGGATTGCCTTGCGACAGGGGACGCCAGCTGCCATGTCTTAGGTAGCCCTCTCGGGAGGCCCATGTGAGTGAGCTGGGAAGCAGATCTTCTGAGGCCACTGACAGCTATGTGAGTGATTTTGGAAGCAGACCCTCCCCTAAGTCAAGCCTCAAAATGTCTGTAGCCCTGACCACCAGCTTGACCATGGCCTGGTTA... |
Task1_train_14707 | This sequence change occurs on Chromosome 10, altering UROS (uroporphyrinogen III synthase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cutaneous porphyria | CTTTCCCTTAAATTCAAGAGCATTCCTCTACCCTTTACATTAAGGGAAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCT... | CTTTCCCTTAAATTCAAGAGCATTCCTCTACCCTTTACATTAAGGGAAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCT... |
Task1_train_14708 | A sequence alteration has been identified in UROS (uroporphyrinogen III synthase) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Cutaneous porphyria | TCTACCCTTTACATTAAGGGAAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATC... | TCTACCCTTTACATTAAGGGAAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATC... |
Task1_train_14709 | A variant was discovered on Chromosome 10, affecting UROS (uroporphyrinogen III synthase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cutaneous porphyria | AAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGG... | AAATTCCCTTTGAAATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGG... |
Task1_train_14710 | This sequence variant lies in UROS (uroporphyrinogen III synthase) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cutaneous porphyria | AATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTA... | AATGGTAACCAAAGATTGAGTTCCACTTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTA... |
Task1_train_14711 | Chromosome 10 houses a mutation in gene UROS (uroporphyrinogen III synthase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cutaneous porphyria | TTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGA... | TTTGCTTCCTACCCCATAAATATCAATAGTATTTATTCAAAAGTTATCCATAGCATGTAAACAAACTACTTTCCAAGCCTCACAGCAGAACAACTGGAGTGAGCACTGGGTGGAGTCAGAAAGCCTTCCACAGAGCCAGCTCTGCCCCTTAACGTGTGTGTCCCAGGTAAGTCAGTTAACGCACCTCGTCTGTTTCTTCATCAAGGTAACTGGGATTAACTACACTCCTACTGCTTATTCCCTATGGTTGTTGTGAGAATCAAAATAAGAAAATACATGGGAAAATGCATTTTAAACTTTATTATAAAGCACCAGAAAGA... |
Task1_train_14712 | This sequence change occurs on Chromosome 10, altering UROS (uroporphyrinogen III synthase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cutaneous porphyria | CCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTC... | CCTCAGTTTTCTCAATGGTAACATAAGACATAAGATCATAGCAATGTGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTC... |
Task1_train_14713 | Gene UROS (uroporphyrinogen III synthase) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cutaneous porphyria | TGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATT... | TGTGCCTCTGGATTGTTATCTAGGGTTAAGTGGGGTAATGAACGTGAAGTATTCATTACACAGGGTCTGACATACAACAGGCACTCCATAATTGTTAGCTAGGAAGCTGTTCAATTGCATTTATTAAGGTGTTTGCTCAGGCTGAAACCCAGGGTTCTGTTAATGGGCACTGCCATTTTCATACTGTTCTAATAGTGAGGGACGGAGGTGGGAAGACAAGTCAAAGAGGTGACTGGGTCACTAAGTGCCTGACATGGTGGCACTGACCATTTTCTCATAGTTAGATTTTTTCATCATCTCTCTTTCAGGAAAGTAGTATT... |
Task1_train_14714 | Gene EBF3 (EBF transcription factor 3) on Chromosome 10 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypotonia, ataxia, and delayed development syndrome | ACTTTCCTTAAAGGATGTGGGACTGATGTAGAGCCAGCCTCCCACCCCTGCAATCTGTCCTGAGCAGGCAGAAGGAGGGAAGGGGTTTGGGGGACAAATATGCGCAGACTTAAAAGGAACTTCCTAAGTGTCAACTCTCTCAGGAAGTGACAGAAGCATAAGCCCTGCCATTTTTTTCTAGGGCACTTGATAACTGGGTATTAATTACAAAAAAATAAATAACCCTACTATTTATGACAAATGCCTTTTTCTTAACGATCTGTCTATGCTAGTCCTCAGAGTCACCCTATTGGCATTTTTAAATTAGTAGTCACTTTCTA... | ACTTTCCTTAAAGGATGTGGGACTGATGTAGAGCCAGCCTCCCACCCCTGCAATCTGTCCTGAGCAGGCAGAAGGAGGGAAGGGGTTTGGGGGACAAATATGCGCAGACTTAAAAGGAACTTCCTAAGTGTCAACTCTCTCAGGAAGTGACAGAAGCATAAGCCCTGCCATTTTTTTCTAGGGCACTTGATAACTGGGTATTAATTACAAAAAAATAAATAACCCTACTATTTATGACAAATGCCTTTTTCTTAACGATCTGTCTATGCTAGTCCTCAGAGTCACCCTATTGGCATTTTTAAATTAGTAGTCACTTTCTA... |
Task1_train_14715 | A variant affecting Chromosome 10, within the gene EBF3 (EBF transcription factor 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypotonia, ataxia, and delayed development syndrome | CCCTGGTGGGAGGTGGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAG... | CCCTGGTGGGAGGTGGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAG... |
Task1_train_14716 | A variant was discovered in gene EBF3 (EBF transcription factor 3), Chromosome 10. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | TGGGAGGTGGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAGCCACGA... | TGGGAGGTGGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAGCCACGA... |
Task1_train_14717 | Chromosome 10 houses a mutation in gene EBF3 (EBF transcription factor 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | GGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAGCCACGAAGGGTAAA... | GGCTTTGCTGCCCCTTTGGTACCACGAGTGGGCCTGGCAGCCTCTGCCTGGAGGAGCCAAGGCCTGTTCCTGGTCACCCAGGTGCCCCCCTTGTGTTCTACCTCCCAGGCCCAGCCCTGGGCATTGAAGACACTCTACAAATGCATTATCTGAATATGATGCAAAGATGCGTAACTAACACTGAGGTGCAGACTTAACCCTTTTTACGTTCCTAAACATGATAGGTTAAAGAAACATGAAAAAGTAAAAACAAATTTAAAAAGTTTTTAAAGACACAGGCTTTGCAGTCATCTACATATAGGTCAGCCACGAAGGGTAAA... |
Task1_train_14718 | An alteration has been detected in EBF3 (EBF transcription factor 3) on Chromosome 10. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypotonia, ataxia, and delayed development syndrome | CTCACCTTAAAATCCCTAAAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAA... | CTCACCTTAAAATCCCTAAAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAA... |
Task1_train_14719 | Here is a variant affecting EBF3 (EBF transcription factor 3) on Chromosome 10. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Renal tubular dysgenesis | AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATA... | AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATA... |
Task1_train_14720 | Assess the clinical impact of this variant on gene EBF3 (EBF transcription factor 3), found on Chromosome 10. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Broad-based gait | AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATA... | AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATA... |
Task1_train_14721 | Here is a mutation in EBF3 (EBF transcription factor 3) on Chromosome 10. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Generalized hypotonia | AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATA... | AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATA... |
Task1_train_14722 | A sequence alteration has been identified in EBF3 (EBF transcription factor 3) on Chromosome 10. Is it disease-inducing or harmless? | Pathogenic; Neurogenic bladder | AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATA... | AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATA... |
Task1_train_14723 | Here’s a variant in EBF3 (EBF transcription factor 3) located on Chromosome 10. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental regression | AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATA... | AAATAGACGGTGATTAAAATTTCTATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATA... |
Task1_train_14724 | Given this variant in gene EBF3 (EBF transcription factor 3) on Chromosome 10, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypotonia | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14725 | A variant found in Chromosome 10 affects EBF3 (EBF transcription factor 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Expressive language delay | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14726 | Gene EBF3 (EBF transcription factor 3), found on Chromosome 10, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Global developmental delay | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14727 | A variant on Chromosome 10 in gene EBF3 (EBF transcription factor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Dyssynergia | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14728 | Located on Chromosome 10, this mutation impacts EBF3 (EBF transcription factor 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Intellectual disability | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14729 | The gene EBF3 (EBF transcription factor 3) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypotonia, ataxia, and delayed development syndrome | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14730 | This alteration in EBF3 (EBF transcription factor 3) on Chromosome 10 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hypotonia, ataxia, and delayed development syndrome | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14731 | A change on Chromosome 10 affects gene EBF3 (EBF transcription factor 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14732 | The gene EBF3 (EBF transcription factor 3) on Chromosome 10 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Isolated Pierre-Robin syndrome | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14733 | This sequence variant lies in EBF3 (EBF transcription factor 3) on Chromosome 10. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypotonia | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14734 | This is a variant in EBF3 (EBF transcription factor 3), located on Chromosome 10. Is this mutation a likely cause of disease or not? | Pathogenic; Expressive language delay | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14735 | This sequence change occurs on Chromosome 10, altering EBF3 (EBF transcription factor 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Global developmental delay | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14736 | This variant lies on Chromosome 10 and affects the gene EBF3 (EBF transcription factor 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dyssynergia | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14737 | This sequence change occurs on Chromosome 10, altering EBF3 (EBF transcription factor 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Intellectual disability | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... | ATAAAATTGTCATATCTTTGAATTTAGGAGCAGAGCAGATTTTTCATCAATAATTAAGACCTCCAAAGCATTTATGCCAGGCGTAAATGGAGCTTCAATCCTCCTTATTCAAATAAACATGGTAAACCCATTAACCAAATGTTTTTACGTTTTTCCCCTCCTCTCATGCTTCTAGAATATCAAATAATCACACACTTCTCTTAGGTTATAAAAATATGAGTAATCTTAGCACATATTTTAATTAACCAAATATAAGACAACATTCAGACGAGAATTAAGGAATATATTTCTGCATATCTGGGGAAAATATTTCCCACCAT... |
Task1_train_14738 | A variant on Chromosome 10 in gene EBF3 (EBF transcription factor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypotonia, ataxia, and delayed development syndrome | CAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTT... | CAGAGATAAAAATAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTT... |
Task1_train_14739 | This variant affects gene EBF3 (EBF transcription factor 3) located on Chromosome 10. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | TAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTG... | TAATGTAAAAATGAAATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTG... |
Task1_train_14740 | The gene EBF3 (EBF transcription factor 3) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | ATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAA... | ATACTTGTTAACAAATTAGCAAAAAGCATTTTATGACACATCTCTAGGTTTAAAGCCAGAAACTCTCTAGGCATAAAGTGCTCCTCACAGCGAGAGCAGTGGCAGATGAAACTGCTTCCCTTGACAACTCACAAGCAATTACTGAATCCCCACAGAGCGAGCCACCAGGTTTCCAAGTCAACCCACCTGTGCATGATAACACACGCGGACAACAAATGGTGCAATGCACAAGATGGGCTCGACACCAGCCTCAAAAATATGGAGCAACTGGAAACCAAGCAAGGCAAAACGTTTTGTTGCTGCTGCGGTTTTGTTTTGAA... |
Task1_train_14741 | The gene NKX6-2 (NK6 homeobox 2) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | ACCCATGTCATAACCTTGTTGCAAATATTTTTCTCCTATAGCAGTAAGTACAGCATTAGAAGGTGATTAGAGAGTCTGTTGATGAAACACAAATGTATGTTTTATTGATTTTACTTTAGAACACTACAGAGTTCCTGGACCGGGTGAAGGCATTAGCTGGGTGTTTGTGTGGGATAAATACTACCACTGCAAGTGACTGCTGTCCGCTGCGGAATCTGTTCTTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGG... | ACCCATGTCATAACCTTGTTGCAAATATTTTTCTCCTATAGCAGTAAGTACAGCATTAGAAGGTGATTAGAGAGTCTGTTGATGAAACACAAATGTATGTTTTATTGATTTTACTTTAGAACACTACAGAGTTCCTGGACCGGGTGAAGGCATTAGCTGGGTGTTTGTGTGGGATAAATACTACCACTGCAAGTGACTGCTGTCCGCTGCGGAATCTGTTCTTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGG... |
Task1_train_14742 | Consider this mutation in NKX6-2 (NK6 homeobox 2) on Chromosome 10. Is this a benign change or a disease-causing variant? | Pathogenic; Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | CCCATGTCATAACCTTGTTGCAAATATTTTTCTCCTATAGCAGTAAGTACAGCATTAGAAGGTGATTAGAGAGTCTGTTGATGAAACACAAATGTATGTTTTATTGATTTTACTTTAGAACACTACAGAGTTCCTGGACCGGGTGAAGGCATTAGCTGGGTGTTTGTGTGGGATAAATACTACCACTGCAAGTGACTGCTGTCCGCTGCGGAATCTGTTCTTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGG... | CCCATGTCATAACCTTGTTGCAAATATTTTTCTCCTATAGCAGTAAGTACAGCATTAGAAGGTGATTAGAGAGTCTGTTGATGAAACACAAATGTATGTTTTATTGATTTTACTTTAGAACACTACAGAGTTCCTGGACCGGGTGAAGGCATTAGCTGGGTGTTTGTGTGGGATAAATACTACCACTGCAAGTGACTGCTGTCCGCTGCGGAATCTGTTCTTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGG... |
Task1_train_14743 | A genetic alteration is present in NKX6-2 (NK6 homeobox 2) on Chromosome 10. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | TTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGGGCCTTTGGAAGTGACCGGTCTGGTTCCTAAGCAATAAAATTGACCGTGGTGAAAATAGTCCCGTGTTGCTTTTTCTTCCTTTCCCTTCTCCTGCCACCTTTGAAATGCTAACTCAGGGGAGCGGCCTCCTGTATAGCCTGTTATTTGAGATCAAGCTCATTAGAAATCCTGGAATTTCACTGTATCACACGCTGTCACAAAACACTAAGCCGTTCATTGA... | TTGGTGGAAGCACAGGTCCGTGTCGCTGCTGTGGTTGCCGCTGTCCGCGGTTCAACACGGAGTCCGCCCCGCGGGTTTCAGCTGTTGGTCGTTCTGAGGGGCCTTTGGAAGTGACCGGTCTGGTTCCTAAGCAATAAAATTGACCGTGGTGAAAATAGTCCCGTGTTGCTTTTTCTTCCTTTCCCTTCTCCTGCCACCTTTGAAATGCTAACTCAGGGGAGCGGCCTCCTGTATAGCCTGTTATTTGAGATCAAGCTCATTAGAAATCCTGGAATTTCACTGTATCACACGCTGTCACAAAACACTAAGCCGTTCATTGA... |
Task1_train_14744 | A mutation found in ECHS1 (enoyl-CoA hydratase, short chain 1) on Chromosome 10 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | GGAGTGCAGTGGCGTGATCTCGGCTCACTGTAATCTCCGCCTCTGGGTTCAAGCGATTCTCCTGCCTCAACTTCCAGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTGGATTTTTAGTAGAGACGGGTTTCGTCATGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAGGCAATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCGCGCCCGGCCTCATTTTTTAAAAAAGTCTTTTTTTTGAGACGGGGTCTTGCTTTGCTGCCCAGTTGGACTCGAACGACCC... | GGAGTGCAGTGGCGTGATCTCGGCTCACTGTAATCTCCGCCTCTGGGTTCAAGCGATTCTCCTGCCTCAACTTCCAGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTGGATTTTTAGTAGAGACGGGTTTCGTCATGTTGCCCAGGCTGGTTTCAAACTCCTGAGCTCAGGCAATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGGTGAGCCACCGCGCCCGGCCTCATTTTTTAAAAAAGTCTTTTTTTTGAGACGGGGTCTTGCTTTGCTGCCCAGTTGGACTCGAACGACCC... |
Task1_train_14745 | This variant affects the gene ECHS1 (enoyl-CoA hydratase, short chain 1) found on Chromosome 10. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | GACCTGGCAGAACCAACAGCTCTGCTATGGCCCCCAAACGTCACACTCCGGTAGCCCACGGCCCCAAGAAGGGAGAGGAACTGGATGAAAGGTGAGATGGCAAACTGTGCCCTTGAGGAGAGGCTGTGAGGCGGCAACGGGGCTGCAAACAGAGAAAAATAACCAAGGATGAAAACCAGGAAGGACAGCACGAGAGCCAGAGCTGGGCGCGGCCGGCACCAAGAACGCCTTTGGCTCTGCTCATTCCAGGCCCGTTCTTTGCACGAGGCCAAGCAGAGCAGATCCAGGTGCGCAGATGGAGGCAGGCGCTGTGGCTCCAG... | GACCTGGCAGAACCAACAGCTCTGCTATGGCCCCCAAACGTCACACTCCGGTAGCCCACGGCCCCAAGAAGGGAGAGGAACTGGATGAAAGGTGAGATGGCAAACTGTGCCCTTGAGGAGAGGCTGTGAGGCGGCAACGGGGCTGCAAACAGAGAAAAATAACCAAGGATGAAAACCAGGAAGGACAGCACGAGAGCCAGAGCTGGGCGCGGCCGGCACCAAGAACGCCTTTGGCTCTGCTCATTCCAGGCCCGTTCTTTGCACGAGGCCAAGCAGAGCAGATCCAGGTGCGCAGATGGAGGCAGGCGCTGTGGCTCCAG... |
Task1_train_14746 | This variant lies on Chromosome 10 and affects the gene ECHS1 (enoyl-CoA hydratase, short chain 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | TCCGGTCACCAGTGAGGACCATCTCCATCGCCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACT... | TCCGGTCACCAGTGAGGACCATCTCCATCGCCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACT... |
Task1_train_14747 | A mutation on Chromosome 10 affecting ECHS1 (enoyl-CoA hydratase, short chain 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | CACCAGTGAGGACCATCTCCATCGCCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACTGAAGGC... | CACCAGTGAGGACCATCTCCATCGCCAGCGACTTCCCAACAGCACGGGTGAGTCTCTGGGTGCCGCCCGCACCTGCAGGGAGGGGCTGGTCATGGCTGGCACTGTGATGAGTGAACCCAAGAAGACATCACAGCTGTGCAGCCAGCAAATTCCAAGGGGCTTAAGATAGGCCCTGAGACTAGGTCCAGGGGTCAGAGGCCAGGCAGCACAAGAGCCCGGGAACATCAGGGGCAGCAGCCCCTTTTCAAGCTCAGGCCCCACATCTGGTGCTCCCCTGTGGGCAAAGGATTACCTAGGTGCCGAGGCAAGAGACTGAAGGC... |
Task1_train_14748 | This mutation occurs in ECHS1 (enoyl-CoA hydratase, short chain 1) on Chromosome 10. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | CTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTA... | CTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCCATGATCACGTGACTTGCTTCACCTTGTCAATCACTTAGAGGATTCACCGTCCTCACCCTGCCCCCTCGTCCTGTATGCAATAAATATCAGTGCGCCCAGCCATTCGGGGCCACTACCGGTCTCCGCCTCTTGATGGTATTGGTCCCCCAGGCCCAGCTGTTTTCTCTTTATCTCTTTGTCTTGTGTCTTTATTTCTTACAATCTCTCGTCTCCGCACATGGGGAGAACACCTGCTAAGCCCCGTAGGGCTGGACACTACACTCCCCCAACACCCTGACATTA... |
Task1_train_14749 | Consider a variant on Chromosome 10 in gene ECHS1 (enoyl-CoA hydratase, short chain 1). Determine its clinical classification and disease relevance. | Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | CATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGG... | CATGTGACCTCCATGGCCAGTGAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGG... |
Task1_train_14750 | With a mutation on Chromosome 10 in gene ECHS1 (enoyl-CoA hydratase, short chain 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | GAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTA... | GAGATGGCAGTGTGCAGAGCTCCCAGTGCCACCCAGGGTCACCATGTTCCCTCTCTGCCATGGACACGAATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTA... |
Task1_train_14751 | The gene ECHS1 (enoyl-CoA hydratase, short chain 1) on Chromosome 10 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | AATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGC... | AATCACAAGCAAGAACTGTCATGGTTAGAAGCCAGCGTTACCCAGGACCAGCCTCTCCCAACACCATCAGATGTGGGCACAGTCACAGTCCCGGGACTCTAAGGCCCCCCCCAAGCTCTGTCACAACCACTCTAGCCTCCGTGGCTGTCCACAGAGGGACCACTGACCAGCCATGGGGCTGTCCATCCAGGGCCTCTGGTCAGATATGAGCTGTGGGCCCTGAGACACAGGCAGATTTTGAGTAATTACCTAAGGCATCTATGCCAGAGACAGTGTCACTCTTTACCTGGGATGGTTCCTATTAAGATCTCCGGCTGTGC... |
Task1_train_14752 | This sequence change occurs on Chromosome 10, altering ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | GCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGG... | GCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGG... |
Task1_train_14753 | Given a variant located on Chromosome 10 and affecting ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | AAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGA... | AAAAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGA... |
Task1_train_14754 | The gene ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977), on Chromosome 10, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAA... | AAAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAA... |
Task1_train_14755 | This genomic variant is located on Chromosome 10, within the ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | AAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAA... | AAGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAA... |
Task1_train_14756 | Here is a genetic alteration in ECHS1, LOC130005023 (enoyl-CoA hydratase, short chain 1| ATAC-STARR-seq lymphoblastoid silent region 2977) on Chromosome 10. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | AGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAAT... | AGAAAAGAAAAAAAGAAAAATCCCCAGCACAGAACACAGCCCACAGCCGCTTTCCTTCTCCTAATATGCCTTGGTCAGCTCTTCCCAGGACACCACTCTGGAGACAGCCCTGGACTCTGCTGAGACAAGGCACCAGGAAACACCTTCTTTCAACAAATGCCAACAGGTGAGGGGGTGTAAGGCAGCTCCTTGCACTTGGTACCGCCCCAGTGCCAAGACCTCTGGCCAACTGGACGCAGGGTGGGGGATGTGAAAATCCTGGGTGTTCCTGCAGCATTAAGATCAGGCACAGGTCCGGAGCAGCAGGCCAGCCCGAAAAT... |
Task1_train_14757 | This mutation occurs in IFITM5 (interferon induced transmembrane protein 5) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Osteogenesis imperfecta type 5 | ACCCTGGGCCACTGTGCTGTTAACCACCACCTCCCGGCAATGGCTGGCCTCAGCGAGGCCCCAGGGCCTCCCCGCAGCCTCGCAGTGTGCATGTCCCTGGCCCTCTCCCATCACCAGGCTGTGGTGGGTGTGTGGGGAGGCTGTGGTACACAACGCAGGTAAAATAATATGAGAACATGCACCCAGCACCAGGGGACTCAGAGAATGTTGCACACATGCCCATTTTCTGCCTTTCTGGATATAGTTTGGTTGGGGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAAAGGGAAGCTGCTATCCTTCCCACATGTGTTTGTGT... | ACCCTGGGCCACTGTGCTGTTAACCACCACCTCCCGGCAATGGCTGGCCTCAGCGAGGCCCCAGGGCCTCCCCGCAGCCTCGCAGTGTGCATGTCCCTGGCCCTCTCCCATCACCAGGCTGTGGTGGGTGTGTGGGGAGGCTGTGGTACACAACGCAGGTAAAATAATATGAGAACATGCACCCAGCACCAGGGGACTCAGAGAATGTTGCACACATGCCCATTTTCTGCCTTTCTGGATATAGTTTGGTTGGGGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAAAGGGAAGCTGCTATCCTTCCCACATGTGTTTGTGT... |
Task1_train_14758 | Here is a mutation in LRRC56, HRAS (leucine rich repeat containing 56| HRas proto-oncogene, GTPase) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGCGAG... | GAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGCGAG... |
Task1_train_14759 | Mutation context: Chromosome 11, Gene LRRC56, HRAS (leucine rich repeat containing 56| HRas proto-oncogene, GTPase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Costello syndrome | GAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTG... | GAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTG... |
Task1_train_14760 | The following genetic variant occurs in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; RASopathy | GAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAGGCAGGCGTGGGGCAAGGGTAGGGTGAGGGCAGGGGCGGGGGAGAGTGGGGCAGGAGCAGACGGACCAGCTGCCAACCTCGTCCACTCCAGGAGGCAGGGATGGCCAGGCTCCCACGCCCTACTGGCCGCTACCCGACCACCAATGAGGCAGAGGCCTGAGGCCAGTCGGTGCTGGAGCCCTACTTCCAAGGTCCACAGACCGCTTCAGGCCACAGAGCCGAAGAAAACTGGGCATGTGAAGGCCCAGGAGGC... | GAGCCTGTGTATACCCAGCAAGGCTGAGCCAGTGACACTACCAGGCTCCAAGAGCAACCAGCCATGAGGCAGGCGTGGGGCAAGGGTAGGGTGAGGGCAGGGGCGGGGGAGAGTGGGGCAGGAGCAGACGGACCAGCTGCCAACCTCGTCCACTCCAGGAGGCAGGGATGGCCAGGCTCCCACGCCCTACTGGCCGCTACCCGACCACCAATGAGGCAGAGGCCTGAGGCCAGTCGGTGCTGGAGCCCTACTTCCAAGGTCCACAGACCGCTTCAGGCCACAGAGCCGAAGAAAACTGGGCATGTGAAGGCCCAGGAGGC... |
Task1_train_14761 | This variant affects the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Costello syndrome | AGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCC... | AGGCGGGGTCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCC... |
Task1_train_14762 | Located on Chromosome 11, this mutation impacts HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Costello syndrome | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... |
Task1_train_14763 | A variant affecting Chromosome 11, within the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Costello syndrome | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... |
Task1_train_14764 | The gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Thyroid cancer, nonmedullary, 2 | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... |
Task1_train_14765 | This alteration occurs within gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Large congenital melanocytic nevus | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... |
Task1_train_14766 | A mutation found in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Linear nevus sebaceous syndrome | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... |
Task1_train_14767 | This sequence variant lies in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Malignant tumor of urinary bladder | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... |
Task1_train_14768 | This variant affects gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Epidermal nevus | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... |
Task1_train_14769 | A variant was discovered in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Costello syndrome | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... | TCCCTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTA... |
Task1_train_14770 | A variant on Chromosome 11 in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; RASopathy | CTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGG... | CTATGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGG... |
Task1_train_14771 | This mutation is located in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; RASopathy | TGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGA... | TGTCTGCCATTCTTGGCAGGTGCATTTCACGCTGGGAGCAAGTCAGGAAAGGTGATGCCTCTCACCGCCAAGAAGGCTCCCAGCAGAGACCAGAGCCACCGGCACAGATCCCCAACCCCTGAAACCACCTCCCTCTGGAGGACCAGGACGCCCTCCTAGTTGGTAGAAGCACAGTAAGCTCTCTGTCCTTATGATCTGCCTGCTTGTCCAGAGCTCTCTGCCAGAAGCCGTGGACACTGGGGCAGGCGGGAGGAGAGAGCACCACAGCCCAGACCCCTGACCGGCCTCTCCCAACCTCCCCCTCCCAAAGGCTATGGAGA... |
Task1_train_14772 | Given this variant in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Large congenital melanocytic nevus | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14773 | Given this context: Chromosome 11, gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Costello syndrome | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14774 | This genomic variant is located on Chromosome 11, within the HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Costello syndrome | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14775 | Gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Linear nevus sebaceous syndrome | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14776 | A genetic alteration is present in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Costello syndrome | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14777 | A variant was discovered on Chromosome 11, affecting HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Large congenital melanocytic nevus | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14778 | Given this context: Chromosome 11, gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Thyroid cancer, nonmedullary, 2 | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14779 | A variant was discovered in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Epidermal nevus | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14780 | A variant found in Chromosome 11 affects HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Malignant tumor of urinary bladder | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14781 | This variant affects the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; HRAS-related disorder | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14782 | This mutation occurs in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Noonan syndrome and Noonan-related syndrome | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14783 | A mutation on Chromosome 11 affecting HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; RASopathy | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14784 | This variant impacts the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Non-immune hydrops fetalis | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... | CAAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAG... |
Task1_train_14785 | This mutation occurs in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Noonan syndrome | AAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGG... | AAGATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGG... |
Task1_train_14786 | A variant found in Chromosome 11 affects HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Costello syndrome | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14787 | The variant affects gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; HRAS-related disorder | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14788 | Chromosome 11 houses a mutation in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Cardiovascular phenotype | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14789 | The gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Costello syndrome | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14790 | Located on Chromosome 11, this mutation impacts HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Noonan syndrome and Noonan-related syndrome | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14791 | Located on Chromosome 11, this mutation impacts HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Epidermal nevus | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14792 | This mutation occurs in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Linear nevus sebaceous syndrome | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14793 | A variant affecting Chromosome 11, within the gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Large congenital melanocytic nevus | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14794 | Gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Thyroid cancer, nonmedullary, 2 | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14795 | With a mutation on Chromosome 11 in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Costello syndrome | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14796 | Chromosome 11 houses a mutation in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Malignant tumor of urinary bladder | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14797 | This mutation is located in gene HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inborn genetic diseases | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... | GATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCC... |
Task1_train_14798 | Consider this mutation in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Costello syndrome | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... |
Task1_train_14799 | This mutation occurs in HRAS, LRRC56 (HRas proto-oncogene, GTPase| leucine rich repeat containing 56) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Linear nevus sebaceous syndrome | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... | ATCAAGACCATCCAATAATTTACTGTGATCCCATCTGTGCCCGACAAGGGCCCACAGAGGCCTGGGAGGGGAGCTAAGGGCTGGGGTTCCGGTGGCATTTGGGATGTTCAAGACAGTCTGTGCACAGCCTCCCTGGGAGGGTCTGCAGTCACCTCGGCCCACGGTCCCGGGGTGACTGGGCTCCAGCAGCCCTTCCTTCCTTCCTTGCTTCCGTCCTTCCTTCCTCCTCCTTCCGTCTGCACCTCCTTCCTGCATCCGGCACCTCCATGTCCTGAGCTTGTGCTGGGCGGGGCACAAGGGAGGCTGCTGACCGCAGGCCA... |
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