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_8800 | Gene MMAA (metabolism of cobalamin associated A) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Methylmalonic aciduria, cblA type | AATCTTAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTGAGTTATATATAACTGTAAATTTTAGTTTGCTACTGGAAGAATTATTACCAGTGTTTCATAACTTGGTGTAATTAAAATAAAAGCTAAGGTTAATTGAGCTCTTACTGCATGGTAGACACTGTTCTAAGCTTTTTACAAGAA... | AATCTTAAACTATTCTTTTTTCCCTAATAGAATGTTAAGAAGCTAAAATTAATTTCATGTTCATCGGCCTTGAAGTGCCATTTACAGGTATACCTTGGAGCAATAATTTATTCCACCATGCCACAAGGTGCTTGAAAATCAACCAAAATTTACAAATACTCATAAACCCAAACTGGGTGAGTTATATATAACTGTAAATTTTAGTTTGCTACTGGAAGAATTATTACCAGTGTTTCATAACTTGGTGTAATTAAAATAAAAGCTAAGGTTAATTGAGCTCTTACTGCATGGTAGACACTGTTCTAAGCTTTTTACAAGAA... |
Task1_train_8801 | The gene MMAA (metabolism of cobalamin associated A) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Methylmalonic aciduria, cblA type | ATTATATAGACTTTGAAAGAAAAAAATACAAGGATAGACAAAACACTATGAATATAAATTTCTACCTTATTGTATCAGTGCATACACTTGAAAAACAGCATTACATTAAAGTTTGAGAAGCATTAGTTTTTTGGTCTATAGTCAATCTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGAT... | ATTATATAGACTTTGAAAGAAAAAAATACAAGGATAGACAAAACACTATGAATATAAATTTCTACCTTATTGTATCAGTGCATACACTTGAAAAACAGCATTACATTAAAGTTTGAGAAGCATTAGTTTTTTGGTCTATAGTCAATCTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGAT... |
Task1_train_8802 | This mutation occurs in MMAA (metabolism of cobalamin associated A) on Chromosome 4. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Methylmalonic aciduria, cblA type | CTATGAATATAAATTTCTACCTTATTGTATCAGTGCATACACTTGAAAAACAGCATTACATTAAAGTTTGAGAAGCATTAGTTTTTTGGTCTATAGTCAATCTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACAGAGATTATTTCATGCAGAAAATTACCTTAGA... | CTATGAATATAAATTTCTACCTTATTGTATCAGTGCATACACTTGAAAAACAGCATTACATTAAAGTTTGAGAAGCATTAGTTTTTTGGTCTATAGTCAATCTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACAGAGATTATTTCATGCAGAAAATTACCTTAGA... |
Task1_train_8803 | This is a variant in MMAA (metabolism of cobalamin associated A), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Methylmalonic aciduria, cblA type | CTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACAGAGATTATTTCATGCAGAAAATTACCTTAGAAAAAGGTTGTATGTGAAGTAAATAAGGAAGTTGATGTATGGGGTACATGTGTGGTCTAGAATTAGAACCTATGAGAAGACTCTGAACTGGCATTTAGTGGT... | CTTTTTTGTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACAGAGATTATTTCATGCAGAAAATTACCTTAGAAAAAGGTTGTATGTGAAGTAAATAAGGAAGTTGATGTATGGGGTACATGTGTGGTCTAGAATTAGAACCTATGAGAAGACTCTGAACTGGCATTTAGTGGT... |
Task1_train_8804 | This alteration occurs within gene MMAA (metabolism of cobalamin associated A) located on Chromosome 4. Is it associated with a disease or is it a benign variant? | Pathogenic; Methylmalonic aciduria, cblA type | GTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACAGAGATTATTTCATGCAGAAAATTACCTTAGAAAAAGGTTGTATGTGAAGTAAATAAGGAAGTTGATGTATGGGGTACATGTGTGGTCTAGAATTAGAACCTATGAGAAGACTCTGAACTGGCATTTAGTGGTAAAAGAG... | GTGCTTTAAATTCACAGACCCCCTGTGATAGCTTTGAGACCTTCGTGAGAGTCTACAATTAACAGTTTTGGAATTTCTGGCTAAGACATAGGAAAGTAATTTCCTAATGTTTACTTCAGTGTGATGGGATCTATAGGATAGTAATTTAAAGTATAGCTTTGGCAGATTGTTTACTTACACAGAGATTATTTCATGCAGAAAATTACCTTAGAAAAAGGTTGTATGTGAAGTAAATAAGGAAGTTGATGTATGGGGTACATGTGTGGTCTAGAATTAGAACCTATGAGAAGACTCTGAACTGGCATTTAGTGGTAAAAGAG... |
Task1_train_8805 | This sequence change occurs on Chromosome 4, altering MMAA (metabolism of cobalamin associated A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Methylmalonic aciduria, cblA type | TGCCCCCCTGCTGTGAGGCCCAGTTCCTCCGTGGCCTGGGGGTTGGGGACCCTTGCACTAGAGTGACTCAGAGAACTCAGGAAAGCACTATATTACAATTGCAGCGTGCTTATAAAGGAGACAAATCAGGACCATCCAAATGAAGACACACATAAGAAGCCTGGGAGGGCCGAAATGCAAAGCTTCTGTGTCCTCAAGACACATTTCTCTCCTGGCATATTGATGTGTATCACCAACCAGAAGGCTCCCCTGAGCTTTAGTGTCCCAAGTTTTTCTTGGGGTTTCATTATGTAGGCATGATTGACTGAATAATTGAAGTT... | TGCCCCCCTGCTGTGAGGCCCAGTTCCTCCGTGGCCTGGGGGTTGGGGACCCTTGCACTAGAGTGACTCAGAGAACTCAGGAAAGCACTATATTACAATTGCAGCGTGCTTATAAAGGAGACAAATCAGGACCATCCAAATGAAGACACACATAAGAAGCCTGGGAGGGCCGAAATGCAAAGCTTCTGTGTCCTCAAGACACATTTCTCTCCTGGCATATTGATGTGTATCACCAACCAGAAGGCTCCCCTGAGCTTTAGTGTCCCAAGTTTTTCTTGGGGTTTCATTATGTAGGCATGATTGACTGAATAATTGAAGTT... |
Task1_train_8806 | A mutation found in MMAA (metabolism of cobalamin associated A) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Methylmalonic aciduria, cblA type | AGGCCCAGTTCCTCCGTGGCCTGGGGGTTGGGGACCCTTGCACTAGAGTGACTCAGAGAACTCAGGAAAGCACTATATTACAATTGCAGCGTGCTTATAAAGGAGACAAATCAGGACCATCCAAATGAAGACACACATAAGAAGCCTGGGAGGGCCGAAATGCAAAGCTTCTGTGTCCTCAAGACACATTTCTCTCCTGGCATATTGATGTGTATCACCAACCAGAAGGCTCCCCTGAGCTTTAGTGTCCCAAGTTTTTCTTGGGGTTTCATTATGTAGGCATGATTGACTGAATAATTGAAGTTGATCTCTAGCCCCTG... | AGGCCCAGTTCCTCCGTGGCCTGGGGGTTGGGGACCCTTGCACTAGAGTGACTCAGAGAACTCAGGAAAGCACTATATTACAATTGCAGCGTGCTTATAAAGGAGACAAATCAGGACCATCCAAATGAAGACACACATAAGAAGCCTGGGAGGGCCGAAATGCAAAGCTTCTGTGTCCTCAAGACACATTTCTCTCCTGGCATATTGATGTGTATCACCAACCAGAAGGCTCCCCTGAGCTTTAGTGTCCCAAGTTTTTCTTGGGGTTTCATTATGTAGGCATGATTGACTGAATAATTGAAGTTGATCTCTAGCCCCTG... |
Task1_train_8807 | Gene MMAA (metabolism of cobalamin associated A) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Methylmalonic aciduria, cblA type | TGAGCCACCACACCTAGCCCAGACAAATTATTTGTTATACAATGCTTCTGTTTCAATTTTATAATTCTAAAACATAGTGATTGCAGACTATCGCTGCTTATTTAGAAACATTAACTATTAGTATTTCATAATTGAATGTTTTGTTTAAAAATATTTGAAAAGAAATTTTAATCTTATGTAGAAAAATCTGTATTTACTAAATAAGGTTTGGCTTTTGGATTTCATCCTTTATTTCTAATATTTTTATGTGACATAATTTGAATTAAGAGATTGAGGTTTGTCCACGCAAAGCTGAAATAAGAAAAATACAAAGTATAAAA... | TGAGCCACCACACCTAGCCCAGACAAATTATTTGTTATACAATGCTTCTGTTTCAATTTTATAATTCTAAAACATAGTGATTGCAGACTATCGCTGCTTATTTAGAAACATTAACTATTAGTATTTCATAATTGAATGTTTTGTTTAAAAATATTTGAAAAGAAATTTTAATCTTATGTAGAAAAATCTGTATTTACTAAATAAGGTTTGGCTTTTGGATTTCATCCTTTATTTCTAATATTTTTATGTGACATAATTTGAATTAAGAGATTGAGGTTTGTCCACGCAAAGCTGAAATAAGAAAAATACAAAGTATAAAA... |
Task1_train_8808 | This sequence change occurs on Chromosome 4, altering MMAA (metabolism of cobalamin associated A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Methylmalonic aciduria, cblA type | TTCAATTTTATAATTCTAAAACATAGTGATTGCAGACTATCGCTGCTTATTTAGAAACATTAACTATTAGTATTTCATAATTGAATGTTTTGTTTAAAAATATTTGAAAAGAAATTTTAATCTTATGTAGAAAAATCTGTATTTACTAAATAAGGTTTGGCTTTTGGATTTCATCCTTTATTTCTAATATTTTTATGTGACATAATTTGAATTAAGAGATTGAGGTTTGTCCACGCAAAGCTGAAATAAGAAAAATACAAAGTATAAAAATAAATAATAATAAAAAAAGAGATTGACATATTTTTAGGCATCAGGTTCTT... | TTCAATTTTATAATTCTAAAACATAGTGATTGCAGACTATCGCTGCTTATTTAGAAACATTAACTATTAGTATTTCATAATTGAATGTTTTGTTTAAAAATATTTGAAAAGAAATTTTAATCTTATGTAGAAAAATCTGTATTTACTAAATAAGGTTTGGCTTTTGGATTTCATCCTTTATTTCTAATATTTTTATGTGACATAATTTGAATTAAGAGATTGAGGTTTGTCCACGCAAAGCTGAAATAAGAAAAATACAAAGTATAAAAATAAATAATAATAAAAAAAGAGATTGACATATTTTTAGGCATCAGGTTCTT... |
Task1_train_8809 | A variant was discovered on Chromosome 4, affecting SLC10A7 (solute carrier family 10 member 7). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | CCTTAAAGCCATTCTTGACCCCTCTTTTTCTCTCACACCCCACATCTAATTCATCAGCATATCCTGTACCTTCAAAATACACCCTGAATCCAATCACGTTTACTGTCTCCACTACCATCCTGCTCTTCAAAAGGCACTGGTAAAAAATAATAAGACAAGTCACAGACTAGGAAAAAATATTGACAAAGCAAATATCTGATGAAAGAGATATATCCAGAATATATAGAACTCTTAATGCTCATCAATAAGTAAACAAACCACCCAATTTTTTAAAAAATGAGCAAGAGAGCTAATAGACATTTCACTAAAGAAGACATATG... | CCTTAAAGCCATTCTTGACCCCTCTTTTTCTCTCACACCCCACATCTAATTCATCAGCATATCCTGTACCTTCAAAATACACCCTGAATCCAATCACGTTTACTGTCTCCACTACCATCCTGCTCTTCAAAAGGCACTGGTAAAAAATAATAAGACAAGTCACAGACTAGGAAAAAATATTGACAAAGCAAATATCTGATGAAAGAGATATATCCAGAATATATAGAACTCTTAATGCTCATCAATAAGTAAACAAACCACCCAATTTTTTAAAAAATGAGCAAGAGAGCTAATAGACATTTCACTAAAGAAGACATATG... |
Task1_train_8810 | A variant found in Chromosome 4 affects SLC10A7 (solute carrier family 10 member 7). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | TCAGCATATCCTGTACCTTCAAAATACACCCTGAATCCAATCACGTTTACTGTCTCCACTACCATCCTGCTCTTCAAAAGGCACTGGTAAAAAATAATAAGACAAGTCACAGACTAGGAAAAAATATTGACAAAGCAAATATCTGATGAAAGAGATATATCCAGAATATATAGAACTCTTAATGCTCATCAATAAGTAAACAAACCACCCAATTTTTTAAAAAATGAGCAAGAGAGCTAATAGACATTTCACTAAAGAAGACATATGAATAGCAAATCAGCACATGAAAAGATACTCAATATCACTGGGAATACAAATTA... | TCAGCATATCCTGTACCTTCAAAATACACCCTGAATCCAATCACGTTTACTGTCTCCACTACCATCCTGCTCTTCAAAAGGCACTGGTAAAAAATAATAAGACAAGTCACAGACTAGGAAAAAATATTGACAAAGCAAATATCTGATGAAAGAGATATATCCAGAATATATAGAACTCTTAATGCTCATCAATAAGTAAACAAACCACCCAATTTTTTAAAAAATGAGCAAGAGAGCTAATAGACATTTCACTAAAGAAGACATATGAATAGCAAATCAGCACATGAAAAGATACTCAATATCACTGGGAATACAAATTA... |
Task1_train_8811 | With a mutation on Chromosome 4 in gene SLC10A7 (solute carrier family 10 member 7), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CTGTCCAATTAATCTTCCTTAGTAGCCACTTTTAAACATGTTGTTATTCGCTTGTTGAGCATTTTTAACAGCTCTCTCTCCATCATCTATAGCTTCAAATGCAAATTCCTCAGCCCAGTAATTCAGGCCTTCTGCAAGCCGACCCTATGGAAATATTTTATCTTTGTATCTCATTAATGCCGCATTTTTGAAATCTCTACGAGTACCCAACCTTTGCTGAACTGCTTATTCTTTAACTGATTACACCACTCATCTGAAAAATCACATGGTGCCCCATTTTAGTGATTACTAGGAGGCATACATATATATGTCCTTTATAA... | CTGTCCAATTAATCTTCCTTAGTAGCCACTTTTAAACATGTTGTTATTCGCTTGTTGAGCATTTTTAACAGCTCTCTCTCCATCATCTATAGCTTCAAATGCAAATTCCTCAGCCCAGTAATTCAGGCCTTCTGCAAGCCGACCCTATGGAAATATTTTATCTTTGTATCTCATTAATGCCGCATTTTTGAAATCTCTACGAGTACCCAACCTTTGCTGAACTGCTTATTCTTTAACTGATTACACCACTCATCTGAAAAATCACATGGTGCCCCATTTTAGTGATTACTAGGAGGCATACATATATATGTCCTTTATAA... |
Task1_train_8812 | This is a variant in EDNRA (endothelin receptor type A), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; Mandibulofacial dysostosis with alopecia | CCAGGACTCAATTTTTTTAAGATTAAATTATGACCTGGGTATATACATCACAGACACGTACACACACCACCGCATAAATCAGATTATGTCTTCATTTGAAGATTCATAAAAGCCTACAGAAAAGGAAATATATAAAATATTGAAATAGGATGAGCTATTTTTAATTATCTTTGATTATTCCTTATTAAGGTCTCCTAGACTTCCTGGACAGGAAGGACCACTTGCTCTCTGCAAGTGACTTAAAAATAAATAAATAAATAAATAAACCACACCAGATGGTCTTTGAAAATGTCTAACCACCCTCCTGAGTCTATTGCTTC... | CCAGGACTCAATTTTTTTAAGATTAAATTATGACCTGGGTATATACATCACAGACACGTACACACACCACCGCATAAATCAGATTATGTCTTCATTTGAAGATTCATAAAAGCCTACAGAAAAGGAAATATATAAAATATTGAAATAGGATGAGCTATTTTTAATTATCTTTGATTATTCCTTATTAAGGTCTCCTAGACTTCCTGGACAGGAAGGACCACTTGCTCTCTGCAAGTGACTTAAAAATAAATAAATAAATAAATAAACCACACCAGATGGTCTTTGAAAATGTCTAACCACCCTCCTGAGTCTATTGCTTC... |
Task1_train_8813 | An alteration has been detected in EDNRA (endothelin receptor type A) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Mandibulofacial dysostosis with alopecia | CCAAATGGAGATTAGAACCCAAGATTTTGTCCTCATGCAGTTAACGTTCCTTTTGGTGCCACTCAAATCTGTAGCAAATCCTAAGTACAGAAGAGCAAGTGTGGCTGAAAGTCCTGCAGATGGGACTGCGGGAGAAACAGCATAGAGCACAAAACCTTGCCATCTTGACTAATACTCTGTGGGGCTCATAGTTTTGCTTCTTGCTTGGTTGTCTCTAATTTCTCCTCATCATAATGATGACAGTTTTATCAAGTAGGGGTTGTGTTCGGATGCTGGGAACACAAAACCCAAAATAACTGTTAGTTGACCAAGAAGGAGTT... | CCAAATGGAGATTAGAACCCAAGATTTTGTCCTCATGCAGTTAACGTTCCTTTTGGTGCCACTCAAATCTGTAGCAAATCCTAAGTACAGAAGAGCAAGTGTGGCTGAAAGTCCTGCAGATGGGACTGCGGGAGAAACAGCATAGAGCACAAAACCTTGCCATCTTGACTAATACTCTGTGGGGCTCATAGTTTTGCTTCTTGCTTGGTTGTCTCTAATTTCTCCTCATCATAATGATGACAGTTTTATCAAGTAGGGGTTGTGTTCGGATGCTGGGAACACAAAACCCAAAATAACTGTTAGTTGACCAAGAAGGAGTT... |
Task1_train_8814 | Assess the clinical impact of this variant on gene PRMT9 (protein arginine methyltransferase 9), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Neurodevelopmental abnormality | ACTTCTTATATACAGAAAATATCCAGTATTTATGATTGCATACACTTAGAATGTGAAAGGTGTTTCAAATCATCTGGTCCAATACCTTGAGGTCTAGACATTTGCTTAAGGTCAAAATAAATTAATAATAGTCTAATCTGGAATCCATAGCTCCTGGTTCAAAACCAATAGATCTTTCTACAACATTATCTGTGAGAAAAAGGTAGATTAAATTAAGGTAACTTTGATTCATGCTGACTCATGTCCCTCTCAAAATTCATACTGAAGGCCTTAACCCCGAAACTGACTATACTGGAGAAGGAAAGGCCGTGTAAAGACAC... | ACTTCTTATATACAGAAAATATCCAGTATTTATGATTGCATACACTTAGAATGTGAAAGGTGTTTCAAATCATCTGGTCCAATACCTTGAGGTCTAGACATTTGCTTAAGGTCAAAATAAATTAATAATAGTCTAATCTGGAATCCATAGCTCCTGGTTCAAAACCAATAGATCTTTCTACAACATTATCTGTGAGAAAAAGGTAGATTAAATTAAGGTAACTTTGATTCATGCTGACTCATGTCCCTCTCAAAATTCATACTGAAGGCCTTAACCCCGAAACTGACTATACTGGAGAAGGAAAGGCCGTGTAAAGACAC... |
Task1_train_8815 | Gene PRMT9 (protein arginine methyltransferase 9) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Neurodevelopmental abnormality | ACAGAAAATATCCAGTATTTATGATTGCATACACTTAGAATGTGAAAGGTGTTTCAAATCATCTGGTCCAATACCTTGAGGTCTAGACATTTGCTTAAGGTCAAAATAAATTAATAATAGTCTAATCTGGAATCCATAGCTCCTGGTTCAAAACCAATAGATCTTTCTACAACATTATCTGTGAGAAAAAGGTAGATTAAATTAAGGTAACTTTGATTCATGCTGACTCATGTCCCTCTCAAAATTCATACTGAAGGCCTTAACCCCGAAACTGACTATACTGGAGAAGGAAAGGCCGTGTAAAGACACAACAAGAAAGC... | ACAGAAAATATCCAGTATTTATGATTGCATACACTTAGAATGTGAAAGGTGTTTCAAATCATCTGGTCCAATACCTTGAGGTCTAGACATTTGCTTAAGGTCAAAATAAATTAATAATAGTCTAATCTGGAATCCATAGCTCCTGGTTCAAAACCAATAGATCTTTCTACAACATTATCTGTGAGAAAAAGGTAGATTAAATTAAGGTAACTTTGATTCATGCTGACTCATGTCCCTCTCAAAATTCATACTGAAGGCCTTAACCCCGAAACTGACTATACTGGAGAAGGAAAGGCCGTGTAAAGACACAACAAGAAAGC... |
Task1_train_8816 | This sequence change occurs on Chromosome 4, altering NR3C2 (nuclear receptor subfamily 3 group C member 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal dominant pseudohypoaldosteronism type 1 | TGTAAGAAAAACTCCTCCCTCTGAGTGCAGCTTTCACAGGTTTCCCCTTGCATAAGGCAGGTGTCTTTTGAAAGACAAGGTAATGTTGCCTGCATGGTGAACCCTGGAGAAAAGTGTTGATCTAATTAATTGCTGCTTCCTCGTGGCCATGGGCTTCTCCAGCTACAGCTTTTAGATTTTGGAAAATAATTAATATGATTTCACTGAGTAAACCTGATGATTATCATCATTTTTAAAAGATTAATTTGGCCTCTATTCAAAGTAGTTTATTTAGTGCAATCATATTGTTAGTTTCCCCAAAGATACATATGTTTGTGATT... | TGTAAGAAAAACTCCTCCCTCTGAGTGCAGCTTTCACAGGTTTCCCCTTGCATAAGGCAGGTGTCTTTTGAAAGACAAGGTAATGTTGCCTGCATGGTGAACCCTGGAGAAAAGTGTTGATCTAATTAATTGCTGCTTCCTCGTGGCCATGGGCTTCTCCAGCTACAGCTTTTAGATTTTGGAAAATAATTAATATGATTTCACTGAGTAAACCTGATGATTATCATCATTTTTAAAAGATTAATTTGGCCTCTATTCAAAGTAGTTTATTTAGTGCAATCATATTGTTAGTTTCCCCAAAGATACATATGTTTGTGATT... |
Task1_train_8817 | A mutation found in NR3C2 (nuclear receptor subfamily 3 group C member 2) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal dominant pseudohypoaldosteronism type 1 | TGAGTGCAGCTTTCACAGGTTTCCCCTTGCATAAGGCAGGTGTCTTTTGAAAGACAAGGTAATGTTGCCTGCATGGTGAACCCTGGAGAAAAGTGTTGATCTAATTAATTGCTGCTTCCTCGTGGCCATGGGCTTCTCCAGCTACAGCTTTTAGATTTTGGAAAATAATTAATATGATTTCACTGAGTAAACCTGATGATTATCATCATTTTTAAAAGATTAATTTGGCCTCTATTCAAAGTAGTTTATTTAGTGCAATCATATTGTTAGTTTCCCCAAAGATACATATGTTTGTGATTTGGGGCAAGAGAAAAGCCATA... | TGAGTGCAGCTTTCACAGGTTTCCCCTTGCATAAGGCAGGTGTCTTTTGAAAGACAAGGTAATGTTGCCTGCATGGTGAACCCTGGAGAAAAGTGTTGATCTAATTAATTGCTGCTTCCTCGTGGCCATGGGCTTCTCCAGCTACAGCTTTTAGATTTTGGAAAATAATTAATATGATTTCACTGAGTAAACCTGATGATTATCATCATTTTTAAAAGATTAATTTGGCCTCTATTCAAAGTAGTTTATTTAGTGCAATCATATTGTTAGTTTCCCCAAAGATACATATGTTTGTGATTTGGGGCAAGAGAAAAGCCATA... |
Task1_train_8818 | A genomic change on Chromosome 4 affects NR3C2 (nuclear receptor subfamily 3 group C member 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | AGCTAGCACTTCAGCACTACGTCTAGGGGCCAGCCATCTTAAACGGTGAAATCACCAAAAGGCATAAAAATGCAAAACATGTGGCAATAAATAGACTGTGAAAAGGATGACAGTTTATAGCATGAGAGCTGAAACAAGATGGCGGAGTGGTCCCTTGTGTGAGCTCAGCTGCAATGTGCTCTCTTGGCAACTCAAATTCTTTGTTACTCTGCATTTGTCTGTAAATGACCATGAATATCCTGTGAGTATTGACTTTGAGATTACAAATAAATGCAGTCAGTAAGCAAATATGCAACTACAGAATCCACTAATGAGGACTG... | AGCTAGCACTTCAGCACTACGTCTAGGGGCCAGCCATCTTAAACGGTGAAATCACCAAAAGGCATAAAAATGCAAAACATGTGGCAATAAATAGACTGTGAAAAGGATGACAGTTTATAGCATGAGAGCTGAAACAAGATGGCGGAGTGGTCCCTTGTGTGAGCTCAGCTGCAATGTGCTCTCTTGGCAACTCAAATTCTTTGTTACTCTGCATTTGTCTGTAAATGACCATGAATATCCTGTGAGTATTGACTTTGAGATTACAAATAAATGCAGTCAGTAAGCAAATATGCAACTACAGAATCCACTAATGAGGACTG... |
Task1_train_8819 | A variant found in Chromosome 4 affects NR3C2 (nuclear receptor subfamily 3 group C member 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pseudohyperaldosteronism type 2 | AGGGGCCAGCCATCTTAAACGGTGAAATCACCAAAAGGCATAAAAATGCAAAACATGTGGCAATAAATAGACTGTGAAAAGGATGACAGTTTATAGCATGAGAGCTGAAACAAGATGGCGGAGTGGTCCCTTGTGTGAGCTCAGCTGCAATGTGCTCTCTTGGCAACTCAAATTCTTTGTTACTCTGCATTTGTCTGTAAATGACCATGAATATCCTGTGAGTATTGACTTTGAGATTACAAATAAATGCAGTCAGTAAGCAAATATGCAACTACAGAATCCACTAATGAGGACTGACTTGATATATCTATGATGGAATG... | AGGGGCCAGCCATCTTAAACGGTGAAATCACCAAAAGGCATAAAAATGCAAAACATGTGGCAATAAATAGACTGTGAAAAGGATGACAGTTTATAGCATGAGAGCTGAAACAAGATGGCGGAGTGGTCCCTTGTGTGAGCTCAGCTGCAATGTGCTCTCTTGGCAACTCAAATTCTTTGTTACTCTGCATTTGTCTGTAAATGACCATGAATATCCTGTGAGTATTGACTTTGAGATTACAAATAAATGCAGTCAGTAAGCAAATATGCAACTACAGAATCCACTAATGAGGACTGACTTGATATATCTATGATGGAATG... |
Task1_train_8820 | The gene NR3C2 (nuclear receptor subfamily 3 group C member 2) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal dominant pseudohypoaldosteronism type 1 | AGGGGCCAGCCATCTTAAACGGTGAAATCACCAAAAGGCATAAAAATGCAAAACATGTGGCAATAAATAGACTGTGAAAAGGATGACAGTTTATAGCATGAGAGCTGAAACAAGATGGCGGAGTGGTCCCTTGTGTGAGCTCAGCTGCAATGTGCTCTCTTGGCAACTCAAATTCTTTGTTACTCTGCATTTGTCTGTAAATGACCATGAATATCCTGTGAGTATTGACTTTGAGATTACAAATAAATGCAGTCAGTAAGCAAATATGCAACTACAGAATCCACTAATGAGGACTGACTTGATATATCTATGATGGAATG... | AGGGGCCAGCCATCTTAAACGGTGAAATCACCAAAAGGCATAAAAATGCAAAACATGTGGCAATAAATAGACTGTGAAAAGGATGACAGTTTATAGCATGAGAGCTGAAACAAGATGGCGGAGTGGTCCCTTGTGTGAGCTCAGCTGCAATGTGCTCTCTTGGCAACTCAAATTCTTTGTTACTCTGCATTTGTCTGTAAATGACCATGAATATCCTGTGAGTATTGACTTTGAGATTACAAATAAATGCAGTCAGTAAGCAAATATGCAACTACAGAATCCACTAATGAGGACTGACTTGATATATCTATGATGGAATG... |
Task1_train_8821 | Gene NR3C2 (nuclear receptor subfamily 3 group C member 2) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal dominant pseudohypoaldosteronism type 1 | GCAAATGATGATAGACACATCCAAGAATACTGGATTAGGGTAATTTGGTCCTCAAGAGGCAAGTTTTTAAATCCTGAAGAACAAAACAATTAATCACAGAAATACACTTAGCATTTAAGTACATTCCAGGAAGATGCTTCTTAAGTCAACCCCAAACAGCCACCTTTCTTTCACTTTTCTCTTTTCTGACAGACTCAAATCAATTCAACAGTCATTTACAGAGTGCCCACCACTGGCCCAGTCCTGTTCCACATTTCACTTTAAATTCATCCTAAATTCTAGATGAGGGTAAACTGCCAGGGCAAACTAAAATTGCAAAG... | GCAAATGATGATAGACACATCCAAGAATACTGGATTAGGGTAATTTGGTCCTCAAGAGGCAAGTTTTTAAATCCTGAAGAACAAAACAATTAATCACAGAAATACACTTAGCATTTAAGTACATTCCAGGAAGATGCTTCTTAAGTCAACCCCAAACAGCCACCTTTCTTTCACTTTTCTCTTTTCTGACAGACTCAAATCAATTCAACAGTCATTTACAGAGTGCCCACCACTGGCCCAGTCCTGTTCCACATTTCACTTTAAATTCATCCTAAATTCTAGATGAGGGTAAACTGCCAGGGCAAACTAAAATTGCAAAG... |
Task1_train_8822 | This alteration in NR3C2 (nuclear receptor subfamily 3 group C member 2) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autosomal dominant pseudohypoaldosteronism type 1 | TCCAATGAAGGAAAAAGTTGCACCTGCATTTAGGTTTTTGTATGTTTATAACTGAGTTATAAAAATAATTCCCTAGGTAATTCCACAGAAACTACTTAAAACAAGAAAAACTAAGCAAGAACTTCTAGAAACCTTTTGCTTCAGAAGTAGAGAAGGGGCAGATTCTACAAACAGCCAAAATGTGGGTTCTGACATGAAGGTGGATCTACAGGTAGGGCCAGCTGGCCAACTGCCTGCTCCAAAATGTCCTTCTCCACATCACTTTATTTTGACATACCACTTACTTTGTTTACTAATTAAGTGAGCCAGAAAGAGGAATT... | TCCAATGAAGGAAAAAGTTGCACCTGCATTTAGGTTTTTGTATGTTTATAACTGAGTTATAAAAATAATTCCCTAGGTAATTCCACAGAAACTACTTAAAACAAGAAAAACTAAGCAAGAACTTCTAGAAACCTTTTGCTTCAGAAGTAGAGAAGGGGCAGATTCTACAAACAGCCAAAATGTGGGTTCTGACATGAAGGTGGATCTACAGGTAGGGCCAGCTGGCCAACTGCCTGCTCCAAAATGTCCTTCTCCACATCACTTTATTTTGACATACCACTTACTTTGTTTACTAATTAAGTGAGCCAGAAAGAGGAATT... |
Task1_train_8823 | An alteration has been detected in LRBA (LPS responsive beige-like anchor protein) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Combined immunodeficiency due to LRBA deficiency | GTTTTTTAAAGGCCATGCATGTAAAAACAATCTCTAGGTTGAGTTACAAAGTATTTAAACATATGAAAATATATTTAAATGTATACATATATCATGATATATATCATACTTTCTTCCTTTGCGAAGAGCTGAAAATTCCTAACTTTAAGGCATACTTAACTTTCTGAAATGCAATAGTAATTACATACAAGTGTAGCTAATAGGTCTTTAGCTGCTTTTTAGAATACACATTGGTAATGACGGTGTATAACATAGAGAACATGATTAAGTAAAATAAAACAAGAAACCAAGAACCCAAATATCTATGTGTGTTCAGATTT... | GTTTTTTAAAGGCCATGCATGTAAAAACAATCTCTAGGTTGAGTTACAAAGTATTTAAACATATGAAAATATATTTAAATGTATACATATATCATGATATATATCATACTTTCTTCCTTTGCGAAGAGCTGAAAATTCCTAACTTTAAGGCATACTTAACTTTCTGAAATGCAATAGTAATTACATACAAGTGTAGCTAATAGGTCTTTAGCTGCTTTTTAGAATACACATTGGTAATGACGGTGTATAACATAGAGAACATGATTAAGTAAAATAAAACAAGAAACCAAGAACCCAAATATCTATGTGTGTTCAGATTT... |
Task1_train_8824 | This alteration in LRBA, MAB21L2 (LPS responsive beige-like anchor protein| mab-21 like 2) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Colobomatous microphthalmia-rhizomelic dysplasia syndrome | CTCACAACTTAGATATTTTCTCTCTCGTAACTAGTTAATTCTTGTAACGATAAAATAATGGTATTAAATACATGTGAATCTTAATTATGAAATAATTATCAAACAAGGTGCTTGGACTAGTTTTTGCCCTGCCCTGTTTTTAAACAGCATATCGAAATTACTAAAAAGAGATTTATAAACCCTCACCTTATATCCACTCCAACCCTCACTGGTGCACATATACAGCAACTGCTCTGATTCTTGGCAACAATGGGAGGGGAGGGGAAGAGAAAGGAGGATGACTTTAAAGGAGGAAAAAACCTGGAAAAATTAGGTCCTTT... | CTCACAACTTAGATATTTTCTCTCTCGTAACTAGTTAATTCTTGTAACGATAAAATAATGGTATTAAATACATGTGAATCTTAATTATGAAATAATTATCAAACAAGGTGCTTGGACTAGTTTTTGCCCTGCCCTGTTTTTAAACAGCATATCGAAATTACTAAAAAGAGATTTATAAACCCTCACCTTATATCCACTCCAACCCTCACTGGTGCACATATACAGCAACTGCTCTGATTCTTGGCAACAATGGGAGGGGAGGGGAAGAGAAAGGAGGATGACTTTAAAGGAGGAAAAAACCTGGAAAAATTAGGTCCTTT... |
Task1_train_8825 | A variant on Chromosome 4 in gene LRBA (LPS responsive beige-like anchor protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Combined immunodeficiency due to LRBA deficiency | GGGTGGATTAAATTATCTCTTAATTCTTTTCCGTGGCTATGAAAAACTAGGAACATAGAGTATTTCCCTAGCCTCTGAATCTGATGATTCTTGAGTAAGGCTTTGCTAGTATAGCCTTGCACTTTTACTTCTAGAAATGTACTCTTTCTAGGAAAGTGAAAAGCCTTCGAAAATGGCACACATAAAGCAATAAAGTCTAAATATTTTAATTATAATACTAATAGATTAAAGAAGTATACTACAATAGAAAGAGTAGGAGCACTAGTTAGACAAAAGTATAGTATTCAAATTCTACCTTCACCAATTATAGCTTTTTAGCT... | GGGTGGATTAAATTATCTCTTAATTCTTTTCCGTGGCTATGAAAAACTAGGAACATAGAGTATTTCCCTAGCCTCTGAATCTGATGATTCTTGAGTAAGGCTTTGCTAGTATAGCCTTGCACTTTTACTTCTAGAAATGTACTCTTTCTAGGAAAGTGAAAAGCCTTCGAAAATGGCACACATAAAGCAATAAAGTCTAAATATTTTAATTATAATACTAATAGATTAAAGAAGTATACTACAATAGAAAGAGTAGGAGCACTAGTTAGACAAAAGTATAGTATTCAAATTCTACCTTCACCAATTATAGCTTTTTAGCT... |
Task1_train_8826 | This mutation is located in gene GATB (glutamyl-tRNA amidotransferase subunit B) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cardiomyopathy, mitochondrial | TATTGTTTCCATCCAGCTCATTAGCCTAAACTCTGCATCTCATTACCAGGCTCCTGGCAGACCCTCCTTATTTGGAATGCTGGCTAAGCATTTTGCCATCTACTCTCCACACGGCCAACAGCAGTTGCTAGTGTGTGTTTAAGCTTGTTTTGTTTCTGCTTTTTAAAGGAATCAATCATGGCAGCTGCCCTCCCTGACCCAACCTCCCTAGCTCCTCCAGTCAGAAAATGCTGTGACACTCCCCCTCCATTAATGGAAGGCACATGGTACTAAAGCACTGATGGATCCTGCAAGGATCCCTCACCTGCTTCTAAGTGGAA... | TATTGTTTCCATCCAGCTCATTAGCCTAAACTCTGCATCTCATTACCAGGCTCCTGGCAGACCCTCCTTATTTGGAATGCTGGCTAAGCATTTTGCCATCTACTCTCCACACGGCCAACAGCAGTTGCTAGTGTGTGTTTAAGCTTGTTTTGTTTCTGCTTTTTAAAGGAATCAATCATGGCAGCTGCCCTCCCTGACCCAACCTCCCTAGCTCCTCCAGTCAGAAAATGCTGTGACACTCCCCCTCCATTAATGGAAGGCACATGGTACTAAAGCACTGATGGATCCTGCAAGGATCCCTCACCTGCTTCTAAGTGGAA... |
Task1_train_8827 | A mutation on Chromosome 4 affecting FBXW7 (F-box and WD repeat domain containing 7) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Developmental delay, hypotonia, and impaired language | GGGTAAGCACTTAATATGTGGTCAAAATTTCAAAATGAATTTGTTATTTATAAGGCTTCTAGTTGTAATTATCACAAAAGTTTTGTGGATTCTTTGAGGGAACCAGATTTCATATTTATACACCCCAATGCAATCTACAGAGATGAGCACAGTGGAGTGTCCTCCTTCATAGTCTAGGAGAGAAATAAAATTTGCAGTTGCAGCACATTATCCTTACTTTCGCGGTATAAAACAGGCTTGAAGTATTGATTTCTATGTCACACAGCAGGATGCAAAGAAACCAAGATTTTGCTTATTTAAATATTATAGACAAATCCTAA... | GGGTAAGCACTTAATATGTGGTCAAAATTTCAAAATGAATTTGTTATTTATAAGGCTTCTAGTTGTAATTATCACAAAAGTTTTGTGGATTCTTTGAGGGAACCAGATTTCATATTTATACACCCCAATGCAATCTACAGAGATGAGCACAGTGGAGTGTCCTCCTTCATAGTCTAGGAGAGAAATAAAATTTGCAGTTGCAGCACATTATCCTTACTTTCGCGGTATAAAACAGGCTTGAAGTATTGATTTCTATGTCACACAGCAGGATGCAAAGAAACCAAGATTTTGCTTATTTAAATATTATAGACAAATCCTAA... |
Task1_train_8828 | Here is a genetic alteration in FBXW7 (F-box and WD repeat domain containing 7) on Chromosome 4. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CAATATCCCAAACCCTAAGAGTGGCATCTCGAGAACCGCTAACAACTCTGCAGAGGGAGAAACAGAAAAACAAAACAAAACAAAAAAACCCACGTTTAGAATTTTTAATAATATGAGAAAACATGGTAGATTTAGTCAAGGTTTTTTAGCTTTTTTTTTTTTTTTTTTACACAGCAACAACCATTTTCAAAAGAAATCCTATGTAAAACCTTGGTATATAAACATAATAAGGGAATGGGAAGTTGGGAAGCCTAGAATGCTGCATGCTTGGTTCCCTGACCTGGGGACCTTAGGTTCAGCACCTTAAGGTTCTGTGGGAC... | CAATATCCCAAACCCTAAGAGTGGCATCTCGAGAACCGCTAACAACTCTGCAGAGGGAGAAACAGAAAAACAAAACAAAACAAAAAAACCCACGTTTAGAATTTTTAATAATATGAGAAAACATGGTAGATTTAGTCAAGGTTTTTTAGCTTTTTTTTTTTTTTTTTTACACAGCAACAACCATTTTCAAAAGAAATCCTATGTAAAACCTTGGTATATAAACATAATAAGGGAATGGGAAGTTGGGAAGCCTAGAATGCTGCATGCTTGGTTCCCTGACCTGGGGACCTTAGGTTCAGCACCTTAAGGTTCTGTGGGAC... |
Task1_train_8829 | The gene FBXW7 (F-box and WD repeat domain containing 7) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TAGATTTAGTCAAGGTTTTTTAGCTTTTTTTTTTTTTTTTTTACACAGCAACAACCATTTTCAAAAGAAATCCTATGTAAAACCTTGGTATATAAACATAATAAGGGAATGGGAAGTTGGGAAGCCTAGAATGCTGCATGCTTGGTTCCCTGACCTGGGGACCTTAGGTTCAGCACCTTAAGGTTCTGTGGGACTGAGTTTGAAAACCACTGTACTGTATTTTTTAAAAAGCAGCAGAAGCTGCCTCTAAATATATACAATAAGATTTTGATTTTAGAAATAAAATGTTAATGTGGGCATATGTATAAAATGTTAATGGG... | TAGATTTAGTCAAGGTTTTTTAGCTTTTTTTTTTTTTTTTTTACACAGCAACAACCATTTTCAAAAGAAATCCTATGTAAAACCTTGGTATATAAACATAATAAGGGAATGGGAAGTTGGGAAGCCTAGAATGCTGCATGCTTGGTTCCCTGACCTGGGGACCTTAGGTTCAGCACCTTAAGGTTCTGTGGGACTGAGTTTGAAAACCACTGTACTGTATTTTTTAAAAAGCAGCAGAAGCTGCCTCTAAATATATACAATAAGATTTTGATTTTAGAAATAAAATGTTAATGTGGGCATATGTATAAAATGTTAATGGG... |
Task1_train_8830 | A change on Chromosome 4 affects gene TRIM2 (tripartite motif containing 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 2R | TAAAATTTTTATCCGTTCTAATTTTTAAAAATTTGATTAAATACTAATTTTAAAATTTTTTGTAGAGACAGAGTCTCGCTATGTTTCCCAGGCTGGTCTTAACTCCTGGCCTCGAGTAATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATACGCCACTGCACCCAGCCTAGTTTCAATTTTTAATATAAGAAATATCTATAAATATAACCCACATACACGAAAGCTCTTTTGGAGTCCTCAATAATTTTTAAAGATTATAACGGGGTCCTGATATAAAAATGTTTGAGCACCACAGCCCTATACTGTAC... | TAAAATTTTTATCCGTTCTAATTTTTAAAAATTTGATTAAATACTAATTTTAAAATTTTTTGTAGAGACAGAGTCTCGCTATGTTTCCCAGGCTGGTCTTAACTCCTGGCCTCGAGTAATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATACGCCACTGCACCCAGCCTAGTTTCAATTTTTAATATAAGAAATATCTATAAATATAACCCACATACACGAAAGCTCTTTTGGAGTCCTCAATAATTTTTAAAGATTATAACGGGGTCCTGATATAAAAATGTTTGAGCACCACAGCCCTATACTGTAC... |
Task1_train_8831 | A variant affecting Chromosome 4, within the gene FGB (fibrinogen beta chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital afibrinogenemia | GATTCACTATCACCAACCAGCCAGTTGATGGATCTTAAGCAAATTATCAAGCTTGTGATAACCTAAATTATAAAATGAGGGTGTTGGAATAGTTACATTCCAAATCTTCTATAACACTCTGTATTATATTTCTGCCTCATTCCTTGTAGGGTTTCTTCAGTGCCCGTGGTCATCGACCCCTTGACAAGAAGAGAGAAGAGGCTCCCAGCCTGAGGCCTGCCCCACCGCCCATCAGTGGAGGTGGCTATCGGGCTCGTCCAGCCAAAGCAGCTGCCACTCAAAAGAAAGTAGAAAGAAAAGCCCCTGATGCTGGAGGCTGT... | GATTCACTATCACCAACCAGCCAGTTGATGGATCTTAAGCAAATTATCAAGCTTGTGATAACCTAAATTATAAAATGAGGGTGTTGGAATAGTTACATTCCAAATCTTCTATAACACTCTGTATTATATTTCTGCCTCATTCCTTGTAGGGTTTCTTCAGTGCCCGTGGTCATCGACCCCTTGACAAGAAGAGAGAAGAGGCTCCCAGCCTGAGGCCTGCCCCACCGCCCATCAGTGGAGGTGGCTATCGGGCTCGTCCAGCCAAAGCAGCTGCCACTCAAAAGAAAGTAGAAAGAAAAGCCCCTGATGCTGGAGGCTGT... |
Task1_train_8832 | A variant was discovered on Chromosome 4, affecting FGB (fibrinogen beta chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial dysfibrinogenemia | ATGAGGGTGTTGGAATAGTTACATTCCAAATCTTCTATAACACTCTGTATTATATTTCTGCCTCATTCCTTGTAGGGTTTCTTCAGTGCCCGTGGTCATCGACCCCTTGACAAGAAGAGAGAAGAGGCTCCCAGCCTGAGGCCTGCCCCACCGCCCATCAGTGGAGGTGGCTATCGGGCTCGTCCAGCCAAAGCAGCTGCCACTCAAAAGAAAGTAGAAAGAAAAGCCCCTGATGCTGGAGGCTGTCTTCACGCTGACCCAGACCTGGTGGGTGCACTGATGTTTCTTGCAGTGGTGGCTCTCTCATGCAGAGAAAGCCT... | ATGAGGGTGTTGGAATAGTTACATTCCAAATCTTCTATAACACTCTGTATTATATTTCTGCCTCATTCCTTGTAGGGTTTCTTCAGTGCCCGTGGTCATCGACCCCTTGACAAGAAGAGAGAAGAGGCTCCCAGCCTGAGGCCTGCCCCACCGCCCATCAGTGGAGGTGGCTATCGGGCTCGTCCAGCCAAAGCAGCTGCCACTCAAAAGAAAGTAGAAAGAAAAGCCCCTGATGCTGGAGGCTGTCTTCACGCTGACCCAGACCTGGTGGGTGCACTGATGTTTCTTGCAGTGGTGGCTCTCTCATGCAGAGAAAGCCT... |
Task1_train_8833 | Gene FGB (fibrinogen beta chain), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital afibrinogenemia | GATAGCTCAGTGTTTAATAGTTTATTCTCAGAAAATCAAAATTGTATAGTTAAATACATTAGTTTTATGAGGCAAAAATGCTAACTATTTCTACATAATTTCATTTTTCCAGATAATGAAAATGTAGTCAATGAGTACTCCTCAGAACTGGAAAAGCACCAATTATATATAGATGAGACTGTGAATAGCAATATCCCAACTAACCTTCGTGTGCTTCGTTCAATCCTGGAAAACCTGAGAAGCAAAATACAAAAGTTAGAATCTGATGTCTCAGCTCAAATGGAATATTGTCGCACCCCATGCACTGTCAGTTGCAATAT... | GATAGCTCAGTGTTTAATAGTTTATTCTCAGAAAATCAAAATTGTATAGTTAAATACATTAGTTTTATGAGGCAAAAATGCTAACTATTTCTACATAATTTCATTTTTCCAGATAATGAAAATGTAGTCAATGAGTACTCCTCAGAACTGGAAAAGCACCAATTATATATAGATGAGACTGTGAATAGCAATATCCCAACTAACCTTCGTGTGCTTCGTTCAATCCTGGAAAACCTGAGAAGCAAAATACAAAAGTTAGAATCTGATGTCTCAGCTCAAATGGAATATTGTCGCACCCCATGCACTGTCAGTTGCAATAT... |
Task1_train_8834 | The variant affects gene FGB (fibrinogen beta chain), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Congenital afibrinogenemia | GAGACTGTGAATAGCAATATCCCAACTAACCTTCGTGTGCTTCGTTCAATCCTGGAAAACCTGAGAAGCAAAATACAAAAGTTAGAATCTGATGTCTCAGCTCAAATGGAATATTGTCGCACCCCATGCACTGTCAGTTGCAATATTCCTGTGGTGTCTGGCAAAGGTAACTGATTCATAAACATATTTTTAGAGAGTTCCAGAAGAACTCACACACCAAAAATAAGAGAACAACAACAACAACAAAAATGCTAAGTGGATTTTCCCAACAGATCATAATGACATTACAGTACATCATAAAAATATCCTTAGCCAGTTGT... | GAGACTGTGAATAGCAATATCCCAACTAACCTTCGTGTGCTTCGTTCAATCCTGGAAAACCTGAGAAGCAAAATACAAAAGTTAGAATCTGATGTCTCAGCTCAAATGGAATATTGTCGCACCCCATGCACTGTCAGTTGCAATATTCCTGTGGTGTCTGGCAAAGGTAACTGATTCATAAACATATTTTTAGAGAGTTCCAGAAGAACTCACACACCAAAAATAAGAGAACAACAACAACAACAAAAATGCTAAGTGGATTTTCCCAACAGATCATAATGACATTACAGTACATCATAAAAATATCCTTAGCCAGTTGT... |
Task1_train_8835 | A genetic alteration is present in FGB (fibrinogen beta chain) on Chromosome 4. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Congenital afibrinogenemia | ATCTGAAATGTATCTCATTCAACCTGACAGTTCTGTCAAACCGTATAGAGTATACTGTGACATGAATACAGAAAATGGAGGTAAGCTTTCGACAGTTGTTGACCTGTTGATCTGTAATTATTTGGATACCGTAAAATGCCAGGAAACAAGGCCAGGTGTGGTGGCTCATACCTGTAATTCCAGCACCTTGGGAGGCCAAAGTGGGCTGATAGCTTGAGCCTAGGAGTTTGAAACTAGCCTGGGCAACATAATGAGACCCTAACTCTACAAAAAAAAAAAAAATACCAAAAAAAAAAAAAAATCAGCTGTGTTGGTAGTAT... | ATCTGAAATGTATCTCATTCAACCTGACAGTTCTGTCAAACCGTATAGAGTATACTGTGACATGAATACAGAAAATGGAGGTAAGCTTTCGACAGTTGTTGACCTGTTGATCTGTAATTATTTGGATACCGTAAAATGCCAGGAAACAAGGCCAGGTGTGGTGGCTCATACCTGTAATTCCAGCACCTTGGGAGGCCAAAGTGGGCTGATAGCTTGAGCCTAGGAGTTTGAAACTAGCCTGGGCAACATAATGAGACCCTAACTCTACAAAAAAAAAAAAAATACCAAAAAAAAAAAAAAATCAGCTGTGTTGGTAGTAT... |
Task1_train_8836 | A variant on Chromosome 4 in gene FGA (fibrinogen alpha chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital afibrinogenemia | GATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTCAACTGCTTTACCTTTTGTAT... | GATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTCAACTGCTTTACCTTTTGTAT... |
Task1_train_8837 | A variant was discovered on Chromosome 4, affecting FGA (fibrinogen alpha chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial dysfibrinogenemia | GATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTCAACTGCTTTACCTTTTGTAT... | GATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTCAACTGCTTTACCTTTTGTAT... |
Task1_train_8838 | Gene FGA (fibrinogen alpha chain), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial visceral amyloidosis, Ostertag type | GATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTCAACTGCTTTACCTTTTGTAT... | GATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTCAACTGCTTTACCTTTTGTAT... |
Task1_train_8839 | A variant found in Chromosome 4 affects FGA (fibrinogen alpha chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Familial visceral amyloidosis, Ostertag type | GATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTCAACTGCTTTACCTTTTGTAT... | GATAAAACAACTTTTTGCTTTCCAATGGCATTATGATTTTGGGTGGTATGGGAAGAGAAGTTCTCAAACCAATAGTCTTCAAGGTTGCAGAGAGAAGCTTCTGTCTGCCACTTTCCTGATGTACTGAATGGCCCTTGGTATATCTTTATAAAAATGTTAAAACCCACAGAGCTATTTAAAGATAAAAAAAACCTTACATAACTTTATTTTTCAAAGACTAATATGTCTCAGGTACATTTAGCTACAGTACAAAGGATAAGAAAATAGCACCTAGGAATTTTTTAGGTTGTAGAGAATCTCAACTGCTTTACCTTTTGTAT... |
Task1_train_8840 | A variant was discovered in gene FGA (fibrinogen alpha chain), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypofibrinogenemia | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... |
Task1_train_8841 | This genomic variant is located on Chromosome 4, within the FGA (fibrinogen alpha chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial dysfibrinogenemia | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... |
Task1_train_8842 | Gene FGA (fibrinogen alpha chain), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital afibrinogenemia | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... |
Task1_train_8843 | Given this context: Chromosome 4, gene FGA (fibrinogen alpha chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Familial dysfibrinogenemia | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... |
Task1_train_8844 | A variant on Chromosome 4 in gene FGA (fibrinogen alpha chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial visceral amyloidosis, Ostertag type | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... |
Task1_train_8845 | A variant was discovered in gene FGA (fibrinogen alpha chain), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Abnormal bleeding | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... |
Task1_train_8846 | The gene FGA (fibrinogen alpha chain), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hypofibrinogenemia | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... | CCTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA... |
Task1_train_8847 | The gene FGA (fibrinogen alpha chain), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial dysfibrinogenemia | CTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA... | CTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA... |
Task1_train_8848 | Given this variant in gene FGA (fibrinogen alpha chain) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypofibrinogenemia | CTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA... | CTCTACTCAGAAACAAGGACATCTGGGACCACAGCCACATACTTACCTCCAGTCGTTTCATATCAACCAACTGAGCTCTAACATTTTTCTGCAGAAGCTGGATATGCTGTACTTTTTCTATGACTTTGCGCTTCAGGACTTCAATTCTGCTTCTCAGATCCTCTGACACTCGGTTGTAGGTATTATCACGGTCTGAAATCGAAAATATGGTTATTGAAGTAGCTGCTGAGTGATTTGTCTGTAATTGCCAGCAAAAAAGAAAGGAAGAAAGGAAGGAAGGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA... |
Task1_train_8849 | Assess the clinical impact of this variant on gene FGG (fibrinogen gamma chain), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 4 | CAATAAATGTTAATTGAATAAGTGCTTCATGCATACATGTATATATGAAGGCTGCAAACAATGAATCAATGTTTCTATTTTCCAAAGCCTCCCACGTCTTCGGTTGTATATCTAGAAGCTGACTTACTGTTTTTATCTCTTCAATAGGATATCTTAAATTCAGCACTCCTGATAACAAGAAAGTGAAAAGATTAAGAAGGAAATTGTGGGCCTGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGCAGGAGGATCCCTTGAGGCCAGGCATTTGAGACCAGCCTGGGCAACACAGTGAGACTCTT... | CAATAAATGTTAATTGAATAAGTGCTTCATGCATACATGTATATATGAAGGCTGCAAACAATGAATCAATGTTTCTATTTTCCAAAGCCTCCCACGTCTTCGGTTGTATATCTAGAAGCTGACTTACTGTTTTTATCTCTTCAATAGGATATCTTAAATTCAGCACTCCTGATAACAAGAAAGTGAAAAGATTAAGAAGGAAATTGTGGGCCTGGCATGGTAGCTCATGCCTGTAATCCCAGCACTTTTGGAGGCCGAGGCAGGAGGATCCCTTGAGGCCAGGCATTTGAGACCAGCCTGGGCAACACAGTGAGACTCTT... |
Task1_train_8850 | A variant found in Chromosome 4 affects FGG (fibrinogen gamma chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Familial dysfibrinogenemia | ACTTTCAGAGAATTTCTGAAACTTTGTGGGTCAATAGAAGTTAGCAGTTAATTTTCTACAAATCATCCTCAGGGTAAAGTGAGTCATATTCTGTTTCCGCAGGGTGCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTAT... | ACTTTCAGAGAATTTCTGAAACTTTGTGGGTCAATAGAAGTTAGCAGTTAATTTTCTACAAATCATCCTCAGGGTAAAGTGAGTCATATTCTGTTTCCGCAGGGTGCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTAT... |
Task1_train_8851 | This variant affects gene FGG (fibrinogen gamma chain) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; FGG-related disorder | ACTTTCAGAGAATTTCTGAAACTTTGTGGGTCAATAGAAGTTAGCAGTTAATTTTCTACAAATCATCCTCAGGGTAAAGTGAGTCATATTCTGTTTCCGCAGGGTGCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTAT... | ACTTTCAGAGAATTTCTGAAACTTTGTGGGTCAATAGAAGTTAGCAGTTAATTTTCTACAAATCATCCTCAGGGTAAAGTGAGTCATATTCTGTTTCCGCAGGGTGCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTAT... |
Task1_train_8852 | The gene FGG (fibrinogen gamma chain) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypofibrinogenemia | GCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTATTCTGGAATCTTTTTACCTCTGCAAGTCTATGAAGAGCTGTCTATTACGAAGTGCATTGCCAGTTACATAAAATTTATAGTATTATCTGCTAACTGAAAATATCTC... | GCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTATTCTGGAATCTTTTTACCTCTGCAAGTCTATGAAGAGCTGTCTATTACGAAGTGCATTGCCAGTTACATAAAATTTATAGTATTATCTGCTAACTGAAAATATCTC... |
Task1_train_8853 | A variant was discovered in gene FGG (fibrinogen gamma chain), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Familial dysfibrinogenemia | GCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTATTCTGGAATCTTTTTACCTCTGCAAGTCTATGAAGAGCTGTCTATTACGAAGTGCATTGCCAGTTACATAAAATTTATAGTATTATCTGCTAACTGAAAATATCTC... | GCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTATTCTGGAATCTTTTTACCTCTGCAAGTCTATGAAGAGCTGTCTATTACGAAGTGCATTGCCAGTTACATAAAATTTATAGTATTATCTGCTAACTGAAAATATCTC... |
Task1_train_8854 | Consider this mutation in FGG (fibrinogen gamma chain) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Familial dysfibrinogenemia | GCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTATTCTGGAATCTTTTTACCTCTGCAAGTCTATGAAGAGCTGTCTATTACGAAGTGCATTGCCAGTTACATAAAATTTATAGTATTATCTGCTAACTGAAAATATCTC... | GCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTATTCTGGAATCTTTTTACCTCTGCAAGTCTATGAAGAGCTGTCTATTACGAAGTGCATTGCCAGTTACATAAAATTTATAGTATTATCTGCTAACTGAAAATATCTC... |
Task1_train_8855 | A sequence alteration has been identified in FGG (fibrinogen gamma chain) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Congenital afibrinogenemia | GCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTATTCTGGAATCTTTTTACCTCTGCAAGTCTATGAAGAGCTGTCTATTACGAAGTGCATTGCCAGTTACATAAAATTTATAGTATTATCTGCTAACTGAAAATATCTC... | GCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTATTCTGGAATCTTTTTACCTCTGCAAGTCTATGAAGAGCTGTCTATTACGAAGTGCATTGCCAGTTACATAAAATTTATAGTATTATCTGCTAACTGAAAATATCTC... |
Task1_train_8856 | Consider a variant on Chromosome 4 in gene FGG (fibrinogen gamma chain). Determine its clinical classification and disease relevance. | Pathogenic; Congenital afibrinogenemia | GCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTATTCTGGAATCTTTTTACCTCTGCAAGTCTATGAAGAGCTGTCTATTACGAAGTGCATTGCCAGTTACATAAAATTTATAGTATTATCTGCTAACTGAAAATATCTC... | GCTCTGGTCTGACCTGTTTGGCTCCCCCCAGGTGGTGTTGCTGTCCTTCTCCAATTGTGAGTCTGTTGAATGGGATTATCTTCATAGTGGTTTTCTTCATGGAATACCACCGGGTTTTCCAAGTGGCCCAAATAATGCCATTATCATAACCATTAGGAGTAGATGCTTTTGAGTAAGTGCCACCTAAAACAAGTCGTAGATGTACATATCATTATTCTGGAATCTTTTTACCTCTGCAAGTCTATGAAGAGCTGTCTATTACGAAGTGCATTGCCAGTTACATAAAATTTATAGTATTATCTGCTAACTGAAAATATCTC... |
Task1_train_8857 | This variant affects the gene LRAT (lecithin retinol acyltransferase) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TCTCATCCAAGTACTTCGCCTTCCTTGGCCGTCTCCGGGAGGTTATGCTTAAAAACATAAAAATAAAAATAAAAATAAAAATAAAGGGAGGCGGACAAAGTTTCGGTGGGTGAACTGAAGCTGGGTCCATGTGACCCTGAAGCCGGAGAAATAAACTTAACATGAATCTTGCTTTCCTGGCGGGCGTTGGGACCCCGCCGTTTTTCATGCCAACCGTTGGAAGCTTCGTACTCAACGGCCACAGGTGCCTAGGAGCGCAGAGAGGCCTCGGGTTCAAATCACCGGCGCGCAGGGACTGGACTCGCGGGTAGCGACCCCCC... | TCTCATCCAAGTACTTCGCCTTCCTTGGCCGTCTCCGGGAGGTTATGCTTAAAAACATAAAAATAAAAATAAAAATAAAAATAAAGGGAGGCGGACAAAGTTTCGGTGGGTGAACTGAAGCTGGGTCCATGTGACCCTGAAGCCGGAGAAATAAACTTAACATGAATCTTGCTTTCCTGGCGGGCGTTGGGACCCCGCCGTTTTTCATGCCAACCGTTGGAAGCTTCGTACTCAACGGCCACAGGTGCCTAGGAGCGCAGAGAGGCCTCGGGTTCAAATCACCGGCGCGCAGGGACTGGACTCGCGGGTAGCGACCCCCC... |
Task1_train_8858 | Gene GUCY1A1 (guanylate cyclase 1 soluble subunit alpha 1) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Moyamoya disease with early-onset achalasia | TGATAAATGTTTATATAAAAATGTTTTCAATTATCAAATAGCTGACTTAGGTTGAATAATAAGAGGTATTGTTTTACAACAAACAAAAGTCACTTGTTTCTTGTAGGAGGCAACTAAATGGATTTTTAATCAACATTTAATAGACATGAAAAAAACAAATAATTTATTTGATTAATTGTTACCGAATGTGGAAGTTAAAACATATTCTGTCATCTCATGGTAGAGAGCTTTGGTAATTATTTAGTCTCAGGAAAGAAAGTTTGCTAACTCATAGTTGATAATACAAGCAAAGCTAAGAGAGAAGTTTCACACATGTATAA... | TGATAAATGTTTATATAAAAATGTTTTCAATTATCAAATAGCTGACTTAGGTTGAATAATAAGAGGTATTGTTTTACAACAAACAAAAGTCACTTGTTTCTTGTAGGAGGCAACTAAATGGATTTTTAATCAACATTTAATAGACATGAAAAAAACAAATAATTTATTTGATTAATTGTTACCGAATGTGGAAGTTAAAACATATTCTGTCATCTCATGGTAGAGAGCTTTGGTAATTATTTAGTCTCAGGAAAGAAAGTTTGCTAACTCATAGTTGATAATACAAGCAAAGCTAAGAGAGAAGTTTCACACATGTATAA... |
Task1_train_8859 | A variant has been detected on Chromosome 4 in GUCY1A1 (guanylate cyclase 1 soluble subunit alpha 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Moyamoya disease 1 | TGATAAATGTTTATATAAAAATGTTTTCAATTATCAAATAGCTGACTTAGGTTGAATAATAAGAGGTATTGTTTTACAACAAACAAAAGTCACTTGTTTCTTGTAGGAGGCAACTAAATGGATTTTTAATCAACATTTAATAGACATGAAAAAAACAAATAATTTATTTGATTAATTGTTACCGAATGTGGAAGTTAAAACATATTCTGTCATCTCATGGTAGAGAGCTTTGGTAATTATTTAGTCTCAGGAAAGAAAGTTTGCTAACTCATAGTTGATAATACAAGCAAAGCTAAGAGAGAAGTTTCACACATGTATAA... | TGATAAATGTTTATATAAAAATGTTTTCAATTATCAAATAGCTGACTTAGGTTGAATAATAAGAGGTATTGTTTTACAACAAACAAAAGTCACTTGTTTCTTGTAGGAGGCAACTAAATGGATTTTTAATCAACATTTAATAGACATGAAAAAAACAAATAATTTATTTGATTAATTGTTACCGAATGTGGAAGTTAAAACATATTCTGTCATCTCATGGTAGAGAGCTTTGGTAATTATTTAGTCTCAGGAAAGAAAGTTTGCTAACTCATAGTTGATAATACAAGCAAAGCTAAGAGAGAAGTTTCACACATGTATAA... |
Task1_train_8860 | A mutation on Chromosome 4 affecting ASIC5 (acid sensing ion channel subunit family member 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pregnancy loss, recurrent, susceptibility to, 3 | GCTGCCTCCCATTCTATTTAAAGTTATTCCTTTGCTCACTGAGATGAATGCCTATTCTGATTGCCTCCTTTGGAAAGGTCAATCAGAAACTCAAAAAAAATGCAACCATTTGTCTCTCACCTACCTATGACCTTGAAGCCTCCTCCCTGCTTCAAGTTGTCCCCACCTTTCTGGATAAAACCAATGTATGTCTTAGATATATTAATTGATGTCTCATGTCTTCCTAAAATGTATAAAACCAAGTTGTGCCCTGACTACCCCGGACTACCTCAGGACTTCCTGAGGCTGTGTCATGGGTGCCTGTTCTTAACTTTGGCAAA... | GCTGCCTCCCATTCTATTTAAAGTTATTCCTTTGCTCACTGAGATGAATGCCTATTCTGATTGCCTCCTTTGGAAAGGTCAATCAGAAACTCAAAAAAAATGCAACCATTTGTCTCTCACCTACCTATGACCTTGAAGCCTCCTCCCTGCTTCAAGTTGTCCCCACCTTTCTGGATAAAACCAATGTATGTCTTAGATATATTAATTGATGTCTCATGTCTTCCTAAAATGTATAAAACCAAGTTGTGCCCTGACTACCCCGGACTACCTCAGGACTTCCTGAGGCTGTGTCATGGGTGCCTGTTCTTAACTTTGGCAAA... |
Task1_train_8861 | Here’s a variant in TDO2 (tryptophan 2,3-dioxygenase) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial hypertryptophanemia | GTTAAAGAAAATGGTTTTGCCCCAATTGACACAGCCCGTCACTTCAGATAGATTGATTCCAACTATGCTTCTTCCAACATGTCATTACTGTATCACTTTTCTTTAATGCCAATGTTACTGTTTGACAGCCCGTAGTAAAAGGGGAGAACAAACTTAATCCTTCGACAGAAAAGCTTTGGCAGTATTCAGGTTTGAACAAATAAACCTTGGACTCATGGAAATTCTGAAAGATGATCTACTGGATAATGTGAACTCAATTGCCACAAAGTTCCCCCGGGAATTAGCTGTTACAGTAATATGAAGCTTTGCCATTTTCCTTT... | GTTAAAGAAAATGGTTTTGCCCCAATTGACACAGCCCGTCACTTCAGATAGATTGATTCCAACTATGCTTCTTCCAACATGTCATTACTGTATCACTTTTCTTTAATGCCAATGTTACTGTTTGACAGCCCGTAGTAAAAGGGGAGAACAAACTTAATCCTTCGACAGAAAAGCTTTGGCAGTATTCAGGTTTGAACAAATAAACCTTGGACTCATGGAAATTCTGAAAGATGATCTACTGGATAATGTGAACTCAATTGCCACAAAGTTCCCCCGGGAATTAGCTGTTACAGTAATATGAAGCTTTGCCATTTTCCTTT... |
Task1_train_8862 | This alteration in GLRB (glycine receptor beta) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hyperekplexia 2 | GTAATTGCACCAGGATATGAGAGAGAAATTGTTAATGCAATTGGTAGTAGAGTTAATGTTTAGCTTCCCAGCTACAAGACTAAAAGAAAAACACAATTAAGTCTTATTTTCCAGTCATATGAAGCATATGAAAGCATCAGGAGAGCATTTTGATAGTGTAAACTCTGAGGATTAAATGTGATTTTGTAAAGCACTTAACATTAAGTATACTTAGCACATGGTAAATACCTATATAATGGTATGATAGTAATATATTTCTAACAACTTAAAAATTAAATAAGGAATTCATCCTGTGTATTTTGATATAAGGGTCATTGATC... | GTAATTGCACCAGGATATGAGAGAGAAATTGTTAATGCAATTGGTAGTAGAGTTAATGTTTAGCTTCCCAGCTACAAGACTAAAAGAAAAACACAATTAAGTCTTATTTTCCAGTCATATGAAGCATATGAAAGCATCAGGAGAGCATTTTGATAGTGTAAACTCTGAGGATTAAATGTGATTTTGTAAAGCACTTAACATTAAGTATACTTAGCACATGGTAAATACCTATATAATGGTATGATAGTAATATATTTCTAACAACTTAAAAATTAAATAAGGAATTCATCCTGTGTATTTTGATATAAGGGTCATTGATC... |
Task1_train_8863 | Gene GLRB (glycine receptor beta) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hyperekplexia 2 | TAATATCCAAGCATGTATTTTACTGCTAAATGCATCCAAGTCTTGTGAAGCTCCCCTAGTGGGTACCTTCATAAAAGGGACACGATGGAAACTTGCTCCAAATTGCAGGACTCATGTGAATGGACTATCATTTAAACATAGTGGGATGGAATGGAAAATTTTATTTTAAACTATGCTACTTTGTAGTAAATCGTTATAATATTTGTGACAACTGAGACTACCTAAAAATATATAATTTGTTGAGAAACATTTCATATGCACTAGGTGAACAGAAAACTAATTTGACTTAGTGATACTATTACAAAGTCATGTACTTCAGA... | TAATATCCAAGCATGTATTTTACTGCTAAATGCATCCAAGTCTTGTGAAGCTCCCCTAGTGGGTACCTTCATAAAAGGGACACGATGGAAACTTGCTCCAAATTGCAGGACTCATGTGAATGGACTATCATTTAAACATAGTGGGATGGAATGGAAAATTTTATTTTAAACTATGCTACTTTGTAGTAAATCGTTATAATATTTGTGACAACTGAGACTACCTAAAAATATATAATTTGTTGAGAAACATTTCATATGCACTAGGTGAACAGAAAACTAATTTGACTTAGTGATACTATTACAAAGTCATGTACTTCAGA... |
Task1_train_8864 | The variant affects gene GRIA2 (glutamate ionotropic receptor AMPA type subunit 2), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurodevelopmental disorder with language impairment and behavioral abnormalities | ATTTCTTTATTCCTTTAGTGCTGATGCTGATGGGCGAAAGTTTTACTTTTAATTGTAGAAGTAATTTTTGTCTGTCACCATAAAATAATATTGAATTTCCTTCTCTGCATAATTTCTCAGGAACTCTTTGAGAAACATGAATTGATACTTTAAAAATACTTAAAAGTAAATAATAAATAGTTGAAGTACTTTTCACCTTTGAATTATTTATAAGTCCAATAAAAATTTTTAGATATCATGTACATTTTAAATCAGTTGACATATTAAATCTGATATAAGGACTGGAATAGAGGACAACTTACATCTAACTTTCCTTAATT... | ATTTCTTTATTCCTTTAGTGCTGATGCTGATGGGCGAAAGTTTTACTTTTAATTGTAGAAGTAATTTTTGTCTGTCACCATAAAATAATATTGAATTTCCTTCTCTGCATAATTTCTCAGGAACTCTTTGAGAAACATGAATTGATACTTTAAAAATACTTAAAAGTAAATAATAAATAGTTGAAGTACTTTTCACCTTTGAATTATTTATAAGTCCAATAAAAATTTTTAGATATCATGTACATTTTAAATCAGTTGACATATTAAATCTGATATAAGGACTGGAATAGAGGACAACTTACATCTAACTTTCCTTAATT... |
Task1_train_8865 | With a mutation on Chromosome 4 in gene GRIA2 (glutamate ionotropic receptor AMPA type subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neurodevelopmental disorder with language impairment and behavioral abnormalities | CTTTAGTGCTGATGCTGATGGGCGAAAGTTTTACTTTTAATTGTAGAAGTAATTTTTGTCTGTCACCATAAAATAATATTGAATTTCCTTCTCTGCATAATTTCTCAGGAACTCTTTGAGAAACATGAATTGATACTTTAAAAATACTTAAAAGTAAATAATAAATAGTTGAAGTACTTTTCACCTTTGAATTATTTATAAGTCCAATAAAAATTTTTAGATATCATGTACATTTTAAATCAGTTGACATATTAAATCTGATATAAGGACTGGAATAGAGGACAACTTACATCTAACTTTCCTTAATTTTTACAACTGGA... | CTTTAGTGCTGATGCTGATGGGCGAAAGTTTTACTTTTAATTGTAGAAGTAATTTTTGTCTGTCACCATAAAATAATATTGAATTTCCTTCTCTGCATAATTTCTCAGGAACTCTTTGAGAAACATGAATTGATACTTTAAAAATACTTAAAAGTAAATAATAAATAGTTGAAGTACTTTTCACCTTTGAATTATTTATAAGTCCAATAAAAATTTTTAGATATCATGTACATTTTAAATCAGTTGACATATTAAATCTGATATAAGGACTGGAATAGAGGACAACTTACATCTAACTTTCCTTAATTTTTACAACTGGA... |
Task1_train_8866 | Given this context: Chromosome 4, gene GRIA2 (glutamate ionotropic receptor AMPA type subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neurodevelopmental disorder with language impairment and behavioral abnormalities | TTTAGTGCTGATGCTGATGGGCGAAAGTTTTACTTTTAATTGTAGAAGTAATTTTTGTCTGTCACCATAAAATAATATTGAATTTCCTTCTCTGCATAATTTCTCAGGAACTCTTTGAGAAACATGAATTGATACTTTAAAAATACTTAAAAGTAAATAATAAATAGTTGAAGTACTTTTCACCTTTGAATTATTTATAAGTCCAATAAAAATTTTTAGATATCATGTACATTTTAAATCAGTTGACATATTAAATCTGATATAAGGACTGGAATAGAGGACAACTTACATCTAACTTTCCTTAATTTTTACAACTGGAA... | TTTAGTGCTGATGCTGATGGGCGAAAGTTTTACTTTTAATTGTAGAAGTAATTTTTGTCTGTCACCATAAAATAATATTGAATTTCCTTCTCTGCATAATTTCTCAGGAACTCTTTGAGAAACATGAATTGATACTTTAAAAATACTTAAAAGTAAATAATAAATAGTTGAAGTACTTTTCACCTTTGAATTATTTATAAGTCCAATAAAAATTTTTAGATATCATGTACATTTTAAATCAGTTGACATATTAAATCTGATATAAGGACTGGAATAGAGGACAACTTACATCTAACTTTCCTTAATTTTTACAACTGGAA... |
Task1_train_8867 | This sequence change occurs on Chromosome 4, altering GRIA2 (glutamate ionotropic receptor AMPA type subunit 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Neurodevelopmental disorder with language impairment and behavioral abnormalities | AATAGAAAAATAAGCAGACATTCAAATGCTTTGACTTTCCAACTCTATGCTCAGCTTCTTTTGAGTCTGAATAGGAAGTATTCAATGACTCTTTTGATGTGTATCTTTGCTTTTGAGTCCATTAAGTTTTAAGATAAATATTCCTTTAATAATACAGTTTCAATTAGCCTTTCTTTCTTTCATATCTGTCACTGATAAGAATGTTGGTTTTTTTCCAGTATATCTTGAAATAAATAGGATTTTGGTGTTTAAATATTCAAAGAAAAAAGTCCTGTTTAATTAAAAGAAAACTTCAATGGCCAAAGAATATTCTTTTAAAA... | AATAGAAAAATAAGCAGACATTCAAATGCTTTGACTTTCCAACTCTATGCTCAGCTTCTTTTGAGTCTGAATAGGAAGTATTCAATGACTCTTTTGATGTGTATCTTTGCTTTTGAGTCCATTAAGTTTTAAGATAAATATTCCTTTAATAATACAGTTTCAATTAGCCTTTCTTTCTTTCATATCTGTCACTGATAAGAATGTTGGTTTTTTTCCAGTATATCTTGAAATAAATAGGATTTTGGTGTTTAAATATTCAAAGAAAAAAGTCCTGTTTAATTAAAAGAAAACTTCAATGGCCAAAGAATATTCTTTTAAAA... |
Task1_train_8868 | A variant was discovered in gene ETFDH (electron transfer flavoprotein dehydrogenase), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | TGAGAGATTTCATCATAAATAATTCTTACTGCTATTTGGGTAACATGGGCATTGACCTGTGAACACTTTAAACAATGAAAATGTATAGATCAAAGAACAGAAACTCTGAGCTCTGACAAATAACATTAAAAAATCACACACAAATGCAGAAAACACTCAGCTCCTGGTGGAAAATTCACTTTTCAGCCAAACGTTTTCTTCACCAATGATATAAAATAAAACAGTGTTCCTCAATAACACATTAGCACTTCATTCTACATATTTACTTGCAATCAGTTTGTTCTGCAAAAATAAAAGCTGGTTAAGCACTCTAGTCATCC... | TGAGAGATTTCATCATAAATAATTCTTACTGCTATTTGGGTAACATGGGCATTGACCTGTGAACACTTTAAACAATGAAAATGTATAGATCAAAGAACAGAAACTCTGAGCTCTGACAAATAACATTAAAAAATCACACACAAATGCAGAAAACACTCAGCTCCTGGTGGAAAATTCACTTTTCAGCCAAACGTTTTCTTCACCAATGATATAAAATAAAACAGTGTTCCTCAATAACACATTAGCACTTCATTCTACATATTTACTTGCAATCAGTTTGTTCTGCAAAAATAAAAGCTGGTTAAGCACTCTAGTCATCC... |
Task1_train_8869 | This gene mutation involves ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | GAGAGATTTCATCATAAATAATTCTTACTGCTATTTGGGTAACATGGGCATTGACCTGTGAACACTTTAAACAATGAAAATGTATAGATCAAAGAACAGAAACTCTGAGCTCTGACAAATAACATTAAAAAATCACACACAAATGCAGAAAACACTCAGCTCCTGGTGGAAAATTCACTTTTCAGCCAAACGTTTTCTTCACCAATGATATAAAATAAAACAGTGTTCCTCAATAACACATTAGCACTTCATTCTACATATTTACTTGCAATCAGTTTGTTCTGCAAAAATAAAAGCTGGTTAAGCACTCTAGTCATCCT... | GAGAGATTTCATCATAAATAATTCTTACTGCTATTTGGGTAACATGGGCATTGACCTGTGAACACTTTAAACAATGAAAATGTATAGATCAAAGAACAGAAACTCTGAGCTCTGACAAATAACATTAAAAAATCACACACAAATGCAGAAAACACTCAGCTCCTGGTGGAAAATTCACTTTTCAGCCAAACGTTTTCTTCACCAATGATATAAAATAAAACAGTGTTCCTCAATAACACATTAGCACTTCATTCTACATATTTACTTGCAATCAGTTTGTTCTGCAAAAATAAAAGCTGGTTAAGCACTCTAGTCATCCT... |
Task1_train_8870 | Here is a mutation in ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | TTTCATGACTAATCCATAGTTAAGCCTGACATGAGCTAAATTGAATAAATTTGCTTATTAGTTTTAAAATATTTAAGATTTGAAAACATTGCTTTATGAGAAAAAGCTATTCAAAGTGTTCACCTAGGAAAGATTATAGTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTT... | TTTCATGACTAATCCATAGTTAAGCCTGACATGAGCTAAATTGAATAAATTTGCTTATTAGTTTTAAAATATTTAAGATTTGAAAACATTGCTTTATGAGAAAAAGCTATTCAAAGTGTTCACCTAGGAAAGATTATAGTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTT... |
Task1_train_8871 | Given this variant in gene ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | AAGATTATAGTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTCGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGTAAGTAATAATTTGTGTACAATTCCTGAGACTTTTCTGGATACTTTGTTTTCATTTTGTGGA... | AAGATTATAGTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTCGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGTAAGTAATAATTTGTGTACAATTCCTGAGACTTTTCTGGATACTTTGTTTTCATTTTGTGGA... |
Task1_train_8872 | Given this variant in gene ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | AAGATTATAGTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTCGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGTAAGTAATAATTTGTGTACAATTCCTGAGACTTTTCTGGATACTTTGTTTTCATTTTGTGGA... | AAGATTATAGTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTCGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGTAAGTAATAATTTGTGTACAATTCCTGAGACTTTTCTGGATACTTTGTTTTCATTTTGTGGA... |
Task1_train_8873 | A mutation found in ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | GTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTCGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGTAAGTAATAATTTGTGTACAATTCCTGAGACTTTTCTGGATACTTTGTTTTCATTTTGTGGAGGAGAGTAT... | GTATATTTCACTATACTCATTGAGTATAGTCATTCACTTATATTTTTTCAGTCTACTGAGGAAAACTAATTTTAAGGAAGATAATAATTTTCGTAATTTTTGTGCAGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCTCGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGTAAGTAATAATTTGTGTACAATTCCTGAGACTTTTCTGGATACTTTGTTTTCATTTTGTGGAGGAGAGTAT... |
Task1_train_8874 | The gene ETFDH (electron transfer flavoprotein dehydrogenase) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | TTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCTAGTAGCTGGGTTTACAAGCACCTGCCAACACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTATTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCACCTTGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCACGCCCAGCCCATGTAACTCTAAGGGAATAATTATATACTTT... | TTTTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCTAGTAGCTGGGTTTACAAGCACCTGCCAACACTCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTATTGGCCAGACTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCACCTTGGCCTCCCAAAGCACTGGGATTACAGGCATGAGCCACCACGCCCAGCCCATGTAACTCTAAGGGAATAATTATATACTTT... |
Task1_train_8875 | The gene ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not specified | AATGCAATATCTAAAGCCAAAGAGGATAACCTAATTTTCTGAAGAAACATATTAATATGGCTTCCCATAACCTAAGCAGAAAAACCACAGGTGTGATATACAGAGGACCAAGTCCAAGTTTTATTGTCTTAAATAAAATTTGTATGAATTTGGTTAAAATCTTAGATTGTCAATTTTTTCTTCTCTAAGATGGGTTATATTATACCTGTCCTACCTCCTAGATTAGATTATTCAGTGGTTGTGAATATACTTGCAAAGATCAAAAATTATATAAATATCTGTATTTTTTCCATATGGAATAAATTGAATTCCAAAAATTT... | AATGCAATATCTAAAGCCAAAGAGGATAACCTAATTTTCTGAAGAAACATATTAATATGGCTTCCCATAACCTAAGCAGAAAAACCACAGGTGTGATATACAGAGGACCAAGTCCAAGTTTTATTGTCTTAAATAAAATTTGTATGAATTTGGTTAAAATCTTAGATTGTCAATTTTTTCTTCTCTAAGATGGGTTATATTATACCTGTCCTACCTCCTAGATTAGATTATTCAGTGGTTGTGAATATACTTGCAAAGATCAAAAATTATATAAATATCTGTATTTTTTCCATATGGAATAAATTGAATTCCAAAAATTT... |
Task1_train_8876 | An alteration has been detected in ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | AATGCAATATCTAAAGCCAAAGAGGATAACCTAATTTTCTGAAGAAACATATTAATATGGCTTCCCATAACCTAAGCAGAAAAACCACAGGTGTGATATACAGAGGACCAAGTCCAAGTTTTATTGTCTTAAATAAAATTTGTATGAATTTGGTTAAAATCTTAGATTGTCAATTTTTTCTTCTCTAAGATGGGTTATATTATACCTGTCCTACCTCCTAGATTAGATTATTCAGTGGTTGTGAATATACTTGCAAAGATCAAAAATTATATAAATATCTGTATTTTTTCCATATGGAATAAATTGAATTCCAAAAATTT... | AATGCAATATCTAAAGCCAAAGAGGATAACCTAATTTTCTGAAGAAACATATTAATATGGCTTCCCATAACCTAAGCAGAAAAACCACAGGTGTGATATACAGAGGACCAAGTCCAAGTTTTATTGTCTTAAATAAAATTTGTATGAATTTGGTTAAAATCTTAGATTGTCAATTTTTTCTTCTCTAAGATGGGTTATATTATACCTGTCCTACCTCCTAGATTAGATTATTCAGTGGTTGTGAATATACTTGCAAAGATCAAAAATTATATAAATATCTGTATTTTTTCCATATGGAATAAATTGAATTCCAAAAATTT... |
Task1_train_8877 | A mutation found in ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | AGATTGAATTGTTTTATAAGTGGTGCTGGGGAAACTATATCCATCTGGAAGCAAATAGAGTTGGACCCCGGTTTGCTGGTTGTTTCTTTCTGGTGATTTAAAGATCTAAAACAATACAAATCAGAAATCTAAGAGATGACAGTTAACAATTTTGGTGTAGGGTAAGCCACCCTACCGCAACAAGATACTAAAAACCTGTGAAAAAACAGACAAACCTTTTTTAACTTAATATATAAAAGTTAAACACTTCTTTATACCAAAGTATACTATAAAGTCTGTAAATGTTTGACTGTCTGTAATATCAAGGTGCACTTAAACAT... | AGATTGAATTGTTTTATAAGTGGTGCTGGGGAAACTATATCCATCTGGAAGCAAATAGAGTTGGACCCCGGTTTGCTGGTTGTTTCTTTCTGGTGATTTAAAGATCTAAAACAATACAAATCAGAAATCTAAGAGATGACAGTTAACAATTTTGGTGTAGGGTAAGCCACCCTACCGCAACAAGATACTAAAAACCTGTGAAAAAACAGACAAACCTTTTTTAACTTAATATATAAAAGTTAAACACTTCTTTATACCAAAGTATACTATAAAGTCTGTAAATGTTTGACTGTCTGTAATATCAAGGTGCACTTAAACAT... |
Task1_train_8878 | Located on Chromosome 4, this mutation impacts ETFDH (electron transfer flavoprotein dehydrogenase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | GGTTGCCATGGACATCTAGCCAAGCAACTATATAAGAAGTTTGATTTGAGAGCAAATTGTGAACCTCAAACCTACGGGATTGGACTGAAGGAGGTATCCTGGTTTGTTTCTGTAATTTTAATTTTGAAAGATGGAATTTAAATTTATTTGTATTATCAGGTAGTTTATAATACTGATTTAATTTTAGTTATATTTTTTCATTGTCTTGAAATGTTCATTATGACTAAAACTTATTTGCGATATTTTTCAAGGGGCTAGAAGATATTACTGATCAAATTATATTACTGGTTAAGTTAGTTTTACATGTTGGAATTGTCGTA... | GGTTGCCATGGACATCTAGCCAAGCAACTATATAAGAAGTTTGATTTGAGAGCAAATTGTGAACCTCAAACCTACGGGATTGGACTGAAGGAGGTATCCTGGTTTGTTTCTGTAATTTTAATTTTGAAAGATGGAATTTAAATTTATTTGTATTATCAGGTAGTTTATAATACTGATTTAATTTTAGTTATATTTTTTCATTGTCTTGAAATGTTCATTATGACTAAAACTTATTTGCGATATTTTTCAAGGGGCTAGAAGATATTACTGATCAAATTATATTACTGGTTAAGTTAGTTTTACATGTTGGAATTGTCGTA... |
Task1_train_8879 | This genomic variant is located on Chromosome 4, within the ETFDH (electron transfer flavoprotein dehydrogenase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | CAAGCAACTATATAAGAAGTTTGATTTGAGAGCAAATTGTGAACCTCAAACCTACGGGATTGGACTGAAGGAGGTATCCTGGTTTGTTTCTGTAATTTTAATTTTGAAAGATGGAATTTAAATTTATTTGTATTATCAGGTAGTTTATAATACTGATTTAATTTTAGTTATATTTTTTCATTGTCTTGAAATGTTCATTATGACTAAAACTTATTTGCGATATTTTTCAAGGGGCTAGAAGATATTACTGATCAAATTATATTACTGGTTAAGTTAGTTTTACATGTTGGAATTGTCGTATCAAGTGTTGCTTGAAGTGA... | CAAGCAACTATATAAGAAGTTTGATTTGAGAGCAAATTGTGAACCTCAAACCTACGGGATTGGACTGAAGGAGGTATCCTGGTTTGTTTCTGTAATTTTAATTTTGAAAGATGGAATTTAAATTTATTTGTATTATCAGGTAGTTTATAATACTGATTTAATTTTAGTTATATTTTTTCATTGTCTTGAAATGTTCATTATGACTAAAACTTATTTGCGATATTTTTCAAGGGGCTAGAAGATATTACTGATCAAATTATATTACTGGTTAAGTTAGTTTTACATGTTGGAATTGTCGTATCAAGTGTTGCTTGAAGTGA... |
Task1_train_8880 | Gene ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | TGTGAACCTCAAACCTACGGGATTGGACTGAAGGAGGTATCCTGGTTTGTTTCTGTAATTTTAATTTTGAAAGATGGAATTTAAATTTATTTGTATTATCAGGTAGTTTATAATACTGATTTAATTTTAGTTATATTTTTTCATTGTCTTGAAATGTTCATTATGACTAAAACTTATTTGCGATATTTTTCAAGGGGCTAGAAGATATTACTGATCAAATTATATTACTGGTTAAGTTAGTTTTACATGTTGGAATTGTCGTATCAAGTGTTGCTTGAAGTGAATCTTGAACTTGTGAATATTTGAATCTTTTTTATTTT... | TGTGAACCTCAAACCTACGGGATTGGACTGAAGGAGGTATCCTGGTTTGTTTCTGTAATTTTAATTTTGAAAGATGGAATTTAAATTTATTTGTATTATCAGGTAGTTTATAATACTGATTTAATTTTAGTTATATTTTTTCATTGTCTTGAAATGTTCATTATGACTAAAACTTATTTGCGATATTTTTCAAGGGGCTAGAAGATATTACTGATCAAATTATATTACTGGTTAAGTTAGTTTTACATGTTGGAATTGTCGTATCAAGTGTTGCTTGAAGTGAATCTTGAACTTGTGAATATTTGAATCTTTTTTATTTT... |
Task1_train_8881 | A variant found in Chromosome 4 affects ETFDH (electron transfer flavoprotein dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not specified | TGTGAACCTCAAACCTACGGGATTGGACTGAAGGAGGTATCCTGGTTTGTTTCTGTAATTTTAATTTTGAAAGATGGAATTTAAATTTATTTGTATTATCAGGTAGTTTATAATACTGATTTAATTTTAGTTATATTTTTTCATTGTCTTGAAATGTTCATTATGACTAAAACTTATTTGCGATATTTTTCAAGGGGCTAGAAGATATTACTGATCAAATTATATTACTGGTTAAGTTAGTTTTACATGTTGGAATTGTCGTATCAAGTGTTGCTTGAAGTGAATCTTGAACTTGTGAATATTTGAATCTTTTTTATTTT... | TGTGAACCTCAAACCTACGGGATTGGACTGAAGGAGGTATCCTGGTTTGTTTCTGTAATTTTAATTTTGAAAGATGGAATTTAAATTTATTTGTATTATCAGGTAGTTTATAATACTGATTTAATTTTAGTTATATTTTTTCATTGTCTTGAAATGTTCATTATGACTAAAACTTATTTGCGATATTTTTCAAGGGGCTAGAAGATATTACTGATCAAATTATATTACTGGTTAAGTTAGTTTTACATGTTGGAATTGTCGTATCAAGTGTTGCTTGAAGTGAATCTTGAACTTGTGAATATTTGAATCTTTTTTATTTT... |
Task1_train_8882 | Consider this mutation in ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | TTACCAATTTGAGAATCTATTTAATGTCTTAAAGAGTTCATAAGTTTTCTGACCTGTTTCTTTAATCTGACTCATGCTGCAGTTTGATATAATTTTCTTTGTTATTCAAGGTGATCCACCTGTATTCTTTTTTATTATTTTTTTATTTTTTTTTTGAGACTGAGTCATGCTCTCTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGGGTTCAAGCAATTCTCACGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCGCCACCATGCCTAGCTAATTTTTGTAGTTTTAGT... | TTACCAATTTGAGAATCTATTTAATGTCTTAAAGAGTTCATAAGTTTTCTGACCTGTTTCTTTAATCTGACTCATGCTGCAGTTTGATATAATTTTCTTTGTTATTCAAGGTGATCCACCTGTATTCTTTTTTATTATTTTTTTATTTTTTTTTTGAGACTGAGTCATGCTCTCTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGGGTTCAAGCAATTCTCACGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCGCCACCATGCCTAGCTAATTTTTGTAGTTTTAGT... |
Task1_train_8883 | A genetic alteration is present in ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not specified | TTACCAATTTGAGAATCTATTTAATGTCTTAAAGAGTTCATAAGTTTTCTGACCTGTTTCTTTAATCTGACTCATGCTGCAGTTTGATATAATTTTCTTTGTTATTCAAGGTGATCCACCTGTATTCTTTTTTATTATTTTTTTATTTTTTTTTTGAGACTGAGTCATGCTCTCTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGGGTTCAAGCAATTCTCACGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCGCCACCATGCCTAGCTAATTTTTGTAGTTTTAGT... | TTACCAATTTGAGAATCTATTTAATGTCTTAAAGAGTTCATAAGTTTTCTGACCTGTTTCTTTAATCTGACTCATGCTGCAGTTTGATATAATTTTCTTTGTTATTCAAGGTGATCCACCTGTATTCTTTTTTATTATTTTTTTATTTTTTTTTTGAGACTGAGTCATGCTCTCTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACCGCAACTTCTGCCTCCCGGGTTCAAGCAATTCTCACGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCCGCCACCATGCCTAGCTAATTTTTGTAGTTTTAGT... |
Task1_train_8884 | A variant on Chromosome 4 in gene ETFDH (electron transfer flavoprotein dehydrogenase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | CTGATTTAATGCTCTTTTATCTAAGTGGTCCTAATCCTGAGTTTGGTCTGAGAACCACAGTCATAAATTCATTCCCCACATATACTGTGAAAGGACCTGGGCCCTGATCCTTCTCTCTTACCAGCATTCCTTCTGCCCCCTAGTTTTGCTTTTCACCACTATTCCCTCACAGAATTGTATCACTGATGAGAGCTGTGGCGACAGAGTGCTCACCATGTCTCTTTTGCAGTTGGTGTCAATAGTTTTCTTGTTAGCTCCCTCCTCTGAGTCCCTCTTAATACCATCAGCCAAATGTACCACTCACCATTTTCTCAACAAAG... | CTGATTTAATGCTCTTTTATCTAAGTGGTCCTAATCCTGAGTTTGGTCTGAGAACCACAGTCATAAATTCATTCCCCACATATACTGTGAAAGGACCTGGGCCCTGATCCTTCTCTCTTACCAGCATTCCTTCTGCCCCCTAGTTTTGCTTTTCACCACTATTCCCTCACAGAATTGTATCACTGATGAGAGCTGTGGCGACAGAGTGCTCACCATGTCTCTTTTGCAGTTGGTGTCAATAGTTTTCTTGTTAGCTCCCTCCTCTGAGTCCCTCTTAATACCATCAGCCAAATGTACCACTCACCATTTTCTCAACAAAG... |
Task1_train_8885 | A genetic alteration is present in ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | GTGAAAGGACCTGGGCCCTGATCCTTCTCTCTTACCAGCATTCCTTCTGCCCCCTAGTTTTGCTTTTCACCACTATTCCCTCACAGAATTGTATCACTGATGAGAGCTGTGGCGACAGAGTGCTCACCATGTCTCTTTTGCAGTTGGTGTCAATAGTTTTCTTGTTAGCTCCCTCCTCTGAGTCCCTCTTAATACCATCAGCCAAATGTACCACTCACCATTTTCTCAACAAAGACCCCATGGCTTACTTTAGGAAATCCTCAGAGAAGAAAAAAATACAGAATGTGGAAAGAACAACGCTGCTTGGCTCTCTTCTTTTC... | GTGAAAGGACCTGGGCCCTGATCCTTCTCTCTTACCAGCATTCCTTCTGCCCCCTAGTTTTGCTTTTCACCACTATTCCCTCACAGAATTGTATCACTGATGAGAGCTGTGGCGACAGAGTGCTCACCATGTCTCTTTTGCAGTTGGTGTCAATAGTTTTCTTGTTAGCTCCCTCCTCTGAGTCCCTCTTAATACCATCAGCCAAATGTACCACTCACCATTTTCTCAACAAAGACCCCATGGCTTACTTTAGGAAATCCTCAGAGAAGAAAAAAATACAGAATGTGGAAAGAACAACGCTGCTTGGCTCTCTTCTTTTC... |
Task1_train_8886 | The gene ETFDH (electron transfer flavoprotein dehydrogenase) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | GATACCTCCCAAATACCTAAGTATCAATAGAACAAACACCTTTACAAAAGGCAGAATTAGCTACCTATTCTTTAGCAAGCTTTGTAAGTATAGGCCTATGACTCTTCTGCTGTGGTGGAGAGAAACAGCCAGCACTTATACCTCCGTAAAGCTTTAATCTAAAAAGACCCTTTACCAACTCCAGCCACACTGGCTTCTTTACAGTTCCCAGAACATGCCAAGCACTCCCACCTCATGGTCTTTGCTCACGGCTGGCTCCTTTGTTCTCTTTCCCTTTGTTTAAATAGCACTCACAGTGGCCCTGCCTTGACCACACCAAT... | GATACCTCCCAAATACCTAAGTATCAATAGAACAAACACCTTTACAAAAGGCAGAATTAGCTACCTATTCTTTAGCAAGCTTTGTAAGTATAGGCCTATGACTCTTCTGCTGTGGTGGAGAGAAACAGCCAGCACTTATACCTCCGTAAAGCTTTAATCTAAAAAGACCCTTTACCAACTCCAGCCACACTGGCTTCTTTACAGTTCCCAGAACATGCCAAGCACTCCCACCTCATGGTCTTTGCTCACGGCTGGCTCCTTTGTTCTCTTTCCCTTTGTTTAAATAGCACTCACAGTGGCCCTGCCTTGACCACACCAAT... |
Task1_train_8887 | This genomic variant is located on Chromosome 4, within the ETFDH (electron transfer flavoprotein dehydrogenase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | CTAAGTATCAATAGAACAAACACCTTTACAAAAGGCAGAATTAGCTACCTATTCTTTAGCAAGCTTTGTAAGTATAGGCCTATGACTCTTCTGCTGTGGTGGAGAGAAACAGCCAGCACTTATACCTCCGTAAAGCTTTAATCTAAAAAGACCCTTTACCAACTCCAGCCACACTGGCTTCTTTACAGTTCCCAGAACATGCCAAGCACTCCCACCTCATGGTCTTTGCTCACGGCTGGCTCCTTTGTTCTCTTTCCCTTTGTTTAAATAGCACTCACAGTGGCCCTGCCTTGACCACACCAATTAATGCACAACACACA... | CTAAGTATCAATAGAACAAACACCTTTACAAAAGGCAGAATTAGCTACCTATTCTTTAGCAAGCTTTGTAAGTATAGGCCTATGACTCTTCTGCTGTGGTGGAGAGAAACAGCCAGCACTTATACCTCCGTAAAGCTTTAATCTAAAAAGACCCTTTACCAACTCCAGCCACACTGGCTTCTTTACAGTTCCCAGAACATGCCAAGCACTCCCACCTCATGGTCTTTGCTCACGGCTGGCTCCTTTGTTCTCTTTCCCTTTGTTTAAATAGCACTCACAGTGGCCCTGCCTTGACCACACCAATTAATGCACAACACACA... |
Task1_train_8888 | Gene ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | AGGCAGAATTAGCTACCTATTCTTTAGCAAGCTTTGTAAGTATAGGCCTATGACTCTTCTGCTGTGGTGGAGAGAAACAGCCAGCACTTATACCTCCGTAAAGCTTTAATCTAAAAAGACCCTTTACCAACTCCAGCCACACTGGCTTCTTTACAGTTCCCAGAACATGCCAAGCACTCCCACCTCATGGTCTTTGCTCACGGCTGGCTCCTTTGTTCTCTTTCCCTTTGTTTAAATAGCACTCACAGTGGCCCTGCCTTGACCACACCAATTAATGCACAACACACAGCACACACCCAGTTCCCCCTGCATGGCCTTTT... | AGGCAGAATTAGCTACCTATTCTTTAGCAAGCTTTGTAAGTATAGGCCTATGACTCTTCTGCTGTGGTGGAGAGAAACAGCCAGCACTTATACCTCCGTAAAGCTTTAATCTAAAAAGACCCTTTACCAACTCCAGCCACACTGGCTTCTTTACAGTTCCCAGAACATGCCAAGCACTCCCACCTCATGGTCTTTGCTCACGGCTGGCTCCTTTGTTCTCTTTCCCTTTGTTTAAATAGCACTCACAGTGGCCCTGCCTTGACCACACCAATTAATGCACAACACACAGCACACACCCAGTTCCCCCTGCATGGCCTTTT... |
Task1_train_8889 | The variant affects gene ETFDH (electron transfer flavoprotein dehydrogenase), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | GACTCTTCTGCTGTGGTGGAGAGAAACAGCCAGCACTTATACCTCCGTAAAGCTTTAATCTAAAAAGACCCTTTACCAACTCCAGCCACACTGGCTTCTTTACAGTTCCCAGAACATGCCAAGCACTCCCACCTCATGGTCTTTGCTCACGGCTGGCTCCTTTGTTCTCTTTCCCTTTGTTTAAATAGCACTCACAGTGGCCCTGCCTTGACCACACCAATTAATGCACAACACACAGCACACACCCAGTTCCCCCTGCATGGCCTTTTCTAGCGCATTTTCCACCTTTTGGTACATTATATTACTTACTTGTTTATCAA... | GACTCTTCTGCTGTGGTGGAGAGAAACAGCCAGCACTTATACCTCCGTAAAGCTTTAATCTAAAAAGACCCTTTACCAACTCCAGCCACACTGGCTTCTTTACAGTTCCCAGAACATGCCAAGCACTCCCACCTCATGGTCTTTGCTCACGGCTGGCTCCTTTGTTCTCTTTCCCTTTGTTTAAATAGCACTCACAGTGGCCCTGCCTTGACCACACCAATTAATGCACAACACACAGCACACACCCAGTTCCCCCTGCATGGCCTTTTCTAGCGCATTTTCCACCTTTTGGTACATTATATTACTTACTTGTTTATCAA... |
Task1_train_8890 | This variant affects gene ETFDH (electron transfer flavoprotein dehydrogenase) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | TCTGCCACTTGGATGAAAACTCCGAGACTAGAGGTATTGCTTAGTGTGAATCCTACATACCTGGCACACGGTAGCGACTCCATAGATATTTGATAAATGAGTCTTAATTCTTAGAATCCCCAGTAAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCT... | TCTGCCACTTGGATGAAAACTCCGAGACTAGAGGTATTGCTTAGTGTGAATCCTACATACCTGGCACACGGTAGCGACTCCATAGATATTTGATAAATGAGTCTTAATTCTTAGAATCCCCAGTAAATGTTCCTCTAGTTAGAGGTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCT... |
Task1_train_8891 | A variant has been detected on Chromosome 4 in ETFDH (electron transfer flavoprotein dehydrogenase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | GTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATCATGTGTATATAGTACCACACATAGATAATACTGGAGCCAGTATATCACCAAAGACTAGATTGAGGGTTAAAGCCTAAAGAAAAGGGGAGTGGAGCCAGAACAGGAAACAATG... | GTATGTAACCAGGTTATGCCTTCAAATCTTTGTAGGAATGGAGGCCTAGCGTGGGGAGATGAAGTGGAAAACAGAAAGGGCAAAGGGTACTACTTCAGGGAGAATGGAATAGCCAAGATGGAGTGCAGTGGCTGGGTAGAAGTTTTTTTCTAATTTTCTTGTCAAGTATCGTTCCTTGTTGGACCACCAGCCATACTTGAACTGTATCATGTGTATATAGTACCACACATAGATAATACTGGAGCCAGTATATCACCAAAGACTAGATTGAGGGTTAAAGCCTAAAGAAAAGGGGAGTGGAGCCAGAACAGGAAACAATG... |
Task1_train_8892 | This sequence variant lies in ETFDH (electron transfer flavoprotein dehydrogenase) on Chromosome 4. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | TATGAGTGACATGATCATTAAAAATTCATGAATGGGATCTGTTAATTAGAGAAAGTGATTGTTTTAATGTTTTCAACTTGGAGAAATTATAAATTTAGTGTCTAAGAACAGTATATTATTACTTGAGGGCTAGTCATATTTCTTTGGTGTGATAATATTTTGAAGTTTTTATACAAATAGGCTTAAGAAAAAGTACTTCAAAATCATATTTTGTTAAGCATTTCCCTCAAAATTGTTGAAGGTTCTGACTTTGAACGGCTCAAGCCAGCCAAGGATTGCACACCTATTGAGTATCCAAAACCCGATGGACAGATCAGTTT... | TATGAGTGACATGATCATTAAAAATTCATGAATGGGATCTGTTAATTAGAGAAAGTGATTGTTTTAATGTTTTCAACTTGGAGAAATTATAAATTTAGTGTCTAAGAACAGTATATTATTACTTGAGGGCTAGTCATATTTCTTTGGTGTGATAATATTTTGAAGTTTTTATACAAATAGGCTTAAGAAAAAGTACTTCAAAATCATATTTTGTTAAGCATTTCCCTCAAAATTGTTGAAGGTTCTGACTTTGAACGGCTCAAGCCAGCCAAGGATTGCACACCTATTGAGTATCCAAAACCCGATGGACAGATCAGTTT... |
Task1_train_8893 | A variant was discovered in gene MSMO1 (methylsterol monooxygenase 1), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | CTGAGTTGTAAACATCACAAGAGCTAGTTAACTGGTGAGTAGCAGCCCTGGTATTAGAGCACAAGTCTCTGGATTGATTCTTAGTTCAGTGCTTTTCCTATTTTTGTCAGGAAGATAACCCTTAAAGAATTTCAAGAACAGAGCTGGATCTGGAGACCTAGATTTTAGTTAGTCCAACTTCTGCTAATAACTGCGTGTGTGACCCTGCCCAAGCTGGTTGACCTCTTTGGGCTTCTGCTGATGCGCAGTAGTTCCCGTACTTTGGATATCGTGGTTCAATTAAAAGAGTTTTGTTGGCGGATACCTGAATTTTTCAGCAG... | CTGAGTTGTAAACATCACAAGAGCTAGTTAACTGGTGAGTAGCAGCCCTGGTATTAGAGCACAAGTCTCTGGATTGATTCTTAGTTCAGTGCTTTTCCTATTTTTGTCAGGAAGATAACCCTTAAAGAATTTCAAGAACAGAGCTGGATCTGGAGACCTAGATTTTAGTTAGTCCAACTTCTGCTAATAACTGCGTGTGTGACCCTGCCCAAGCTGGTTGACCTCTTTGGGCTTCTGCTGATGCGCAGTAGTTCCCGTACTTTGGATATCGTGGTTCAATTAAAAGAGTTTTGTTGGCGGATACCTGAATTTTTCAGCAG... |
Task1_train_8894 | An alteration has been detected in MSMO1 (methylsterol monooxygenase 1) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | CAGTGAAGCAGAATCATTGGGGTATATATATGCAGAGAGAGATTTATTTTAAGGAATCAGCTCATGCAAGTGTGCGGCTGTCAAGTCTGAAATCTGTAAAGCAGGCTACAGACTAGAAATCCAGGTAAGAATTGTTGCAGCCTTGGGTCCAAATTCCATGGAGCAGCAAGTTGGAAACTCAGGCAGGGTTTCAGTGTTGCAGTCTCGAGAATCCTTCTTCAGGAAACCTCAGCCTTTTATCCTGAAGGCCTTCAAATGATTGGATGAAGCCCACCCTCATTATGAAGGGTAATCACCTTTACTCAGTCTACTGATTTAAA... | CAGTGAAGCAGAATCATTGGGGTATATATATGCAGAGAGAGATTTATTTTAAGGAATCAGCTCATGCAAGTGTGCGGCTGTCAAGTCTGAAATCTGTAAAGCAGGCTACAGACTAGAAATCCAGGTAAGAATTGTTGCAGCCTTGGGTCCAAATTCCATGGAGCAGCAAGTTGGAAACTCAGGCAGGGTTTCAGTGTTGCAGTCTCGAGAATCCTTCTTCAGGAAACCTCAGCCTTTTATCCTGAAGGCCTTCAAATGATTGGATGAAGCCCACCCTCATTATGAAGGGTAATCACCTTTACTCAGTCTACTGATTTAAA... |
Task1_train_8895 | The variant affects gene TLL1 (tolloid like 1), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Atrial septal defect 6 | AAGCCTTTTAGAACTCATTTGGAATAATTTGAAATGTTCCTTTAATTTATTTTAAGCTTCTCTTTATTTAAACATGTATCAGGTGTTTATTTTATTATTGATACTTATTTCCAGGCAATTCAGCATCACACCAAGGTATTTTTATAAAGCCTGGATCAATTTTAATCAAGTGAAAAAATATCATGGTTATTTGTTTTGAAATAAATCTACTTAAAGTAAAATGAAAAACTTATTACCGGATTTAAAAAGTTAAAATGTTTTGACCATTCAAAAAATAGAAAATAGTTATAAATATATATAAACATTCAGAACTAATTATG... | AAGCCTTTTAGAACTCATTTGGAATAATTTGAAATGTTCCTTTAATTTATTTTAAGCTTCTCTTTATTTAAACATGTATCAGGTGTTTATTTTATTATTGATACTTATTTCCAGGCAATTCAGCATCACACCAAGGTATTTTTATAAAGCCTGGATCAATTTTAATCAAGTGAAAAAATATCATGGTTATTTGTTTTGAAATAAATCTACTTAAAGTAAAATGAAAAACTTATTACCGGATTTAAAAAGTTAAAATGTTTTGACCATTCAAAAAATAGAAAATAGTTATAAATATATATAAACATTCAGAACTAATTATG... |
Task1_train_8896 | A variant has been detected on Chromosome 4 in TLL1 (tolloid like 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Atrial septal defect 6 | GATTTATATCCATCCCTCCTTTCATCCATCCATCCATTCACCAGGCCACTGTGTTTGTACATATTAATGTATCTGTAGATATCTCTGTCTAGATCTAGATTTTTATCTATCCATCCTACCATCATTCATTCATCCATCTCTCATACCAGGCCACCATGTATATGTATGTTACTATATCTAGATCTATTTCTGTCTCTATCTAGATCAGATTTTCATCCACCCATCTATATATCTATTCATCCCTCCATTTCTCCATCCATCCATCTGTCTATCCATCATTTGTTTTTATCTTTTTCTTAATATAGTCTTTAGGTATATCT... | GATTTATATCCATCCCTCCTTTCATCCATCCATCCATTCACCAGGCCACTGTGTTTGTACATATTAATGTATCTGTAGATATCTCTGTCTAGATCTAGATTTTTATCTATCCATCCTACCATCATTCATTCATCCATCTCTCATACCAGGCCACCATGTATATGTATGTTACTATATCTAGATCTATTTCTGTCTCTATCTAGATCAGATTTTCATCCACCCATCTATATATCTATTCATCCCTCCATTTCTCCATCCATCCATCTGTCTATCCATCATTTGTTTTTATCTTTTTCTTAATATAGTCTTTAGGTATATCT... |
Task1_train_8897 | This variant lies on Chromosome 4 and affects the gene NEK1 (NIMA related kinase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Short-rib thoracic dysplasia 6 with or without polydactyly | CTTTTATATTTTCATTTTGATAAAATTTTTTAATATTTAGAAAAATACAACATGTTTTACAGTAATAATTCACAACTAACAGAAATTTTCTACCACTAAGACTTGAGTTTTTTTTTTTTTACTGGGGTTTATAGACCCTTGGATTCTCATGCCTGAAAAAAATACTTTTTGCTCCTTAAAGGGATCCACATGTTATTCAAGTTTGAGGAACACTGTATGATAGTGCCCTCTTTTTAAAGATCATGGGAAAATTGTTCCTTTGGTTTCAATACCAAAAATAGCTGTCCTCTGAGCAACTAAAATGTTTTGTCTCATGAATA... | CTTTTATATTTTCATTTTGATAAAATTTTTTAATATTTAGAAAAATACAACATGTTTTACAGTAATAATTCACAACTAACAGAAATTTTCTACCACTAAGACTTGAGTTTTTTTTTTTTTACTGGGGTTTATAGACCCTTGGATTCTCATGCCTGAAAAAAATACTTTTTGCTCCTTAAAGGGATCCACATGTTATTCAAGTTTGAGGAACACTGTATGATAGTGCCCTCTTTTTAAAGATCATGGGAAAATTGTTCCTTTGGTTTCAATACCAAAAATAGCTGTCCTCTGAGCAACTAAAATGTTTTGTCTCATGAATA... |
Task1_train_8898 | The gene NEK1 (NIMA related kinase 1) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Short-rib thoracic dysplasia 6 with or without polydactyly | CTGATCAATTATTTCAAATAAGCATCTGATAACCACCATCCCACATTACTTTGTCAGCTTATGCTTTTTTCCTTAAGAAAGAAAAAAAAAACTAAGGCAATATAGTAAAAGGGTATGCAACCATTAAAAAGAATGACAAGAAAAAATATTCCCCAAATAGTATTAAGCAATAAAGTCAGGTTATAAAACTTCTTATAAAGTCTAATCAAACTTTTGGGGAAGAAAAAAAAATTTCATTTTACAGGTAGTCAATACTGGCTGGAAGAACTGCTTATGAACCTTATTCACTTATTTATATTTTCTGAAGTTTTGTGTAATGA... | CTGATCAATTATTTCAAATAAGCATCTGATAACCACCATCCCACATTACTTTGTCAGCTTATGCTTTTTTCCTTAAGAAAGAAAAAAAAAACTAAGGCAATATAGTAAAAGGGTATGCAACCATTAAAAAGAATGACAAGAAAAAATATTCCCCAAATAGTATTAAGCAATAAAGTCAGGTTATAAAACTTCTTATAAAGTCTAATCAAACTTTTGGGGAAGAAAAAAAAATTTCATTTTACAGGTAGTCAATACTGGCTGGAAGAACTGCTTATGAACCTTATTCACTTATTTATATTTTCTGAAGTTTTGTGTAATGA... |
Task1_train_8899 | Here is a variant affecting NEK1 (NIMA related kinase 1) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Short-rib thoracic dysplasia 6 with or without polydactyly | AAAAATGGACTTAGAGGAGAATTTCTAGGATGAGGGTTACCTGAAAGATAATATAACTTAAAATATAATAAAAACATTATAGTCGCTTTTTAACATAACTTTGAAAGTATTTCAGAAACTTCTACTTACAGCATGTTTAAGTGTACACAGCTCATAAAGGACACACCCCAGAGCCCAAATGTCACTGGAGAAGATAAAAATGAGAAATTTCCTCTAAGTATTTCAAATTTTTTCATTTAAAGGAAACACAAACAGCATAAAAGTGTTTTGGAAAAATATGTGCTCCAGAAAAAATTTCCTTTAAAACTAAAAATTTCAAC... | AAAAATGGACTTAGAGGAGAATTTCTAGGATGAGGGTTACCTGAAAGATAATATAACTTAAAATATAATAAAAACATTATAGTCGCTTTTTAACATAACTTTGAAAGTATTTCAGAAACTTCTACTTACAGCATGTTTAAGTGTACACAGCTCATAAAGGACACACCCCAGAGCCCAAATGTCACTGGAGAAGATAAAAATGAGAAATTTCCTCTAAGTATTTCAAATTTTTTCATTTAAAGGAAACACAAACAGCATAAAAGTGTTTTGGAAAAATATGTGCTCCAGAAAAAATTTCCTTTAAAACTAAAAATTTCAAC... |
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