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_3900 | With a mutation on Chromosome 2 in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Achromatopsia 2 | TTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAA... | TTTCTGCCCAGATAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAA... |
Task1_train_3901 | Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Achromatopsia 2 | TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAA... | TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAA... |
Task1_train_3902 | This variant affects gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAA... | TAGCTGTAATTTCACATGCTTACTTTATCTTACGTAAAATGTAGTTTGCATAATTTACTTTTCCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAA... |
Task1_train_3903 | This alteration occurs within gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Achromatopsia 2 | CCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTG... | CCTCCACTCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTG... |
Task1_train_3904 | The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGC... | TCCCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGC... |
Task1_train_3905 | The gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Achromatopsia | CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTG... | CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTG... |
Task1_train_3906 | This mutation is located in gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not specified | CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTG... | CCTTCTTTTCACATGTAGATTCACTGAGCGCTAATCAAAGCCTAGCAAGAATATAACCACTGGCCTCATTGCCTACCCACCCTTTCTTTTCTTTCTTCTCTCCTCTCCTGCCTGCTGCCTGCTCTGTCCCCTTTAAGTATTGACATCCTCAAAACCCTCTTTGGAAAAAGCACAGGCCACAGATCTTACTGTGACTTGTGTTTCTTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTG... |
Task1_train_3907 | Gene CNGA3 (cyclic nucleotide gated channel subunit alpha 3), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCG... | TTTCTCCTAGGTGTACCTTCAACCTTGATAAAAATAAACCTCTAAATCAATTGAGATCTGCCTCCGTCACTTTTTTTTTTTCAAAGACTCAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTAGTGGTGCGATCTTGGCTCATTGCACCCTCCACCTCCTGGGTTCAAGTGGTTCTCGTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGGGTGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACCCTTGACCTCAGGTGATCCACCCGCCTCG... |
Task1_train_3908 | The gene COA5 (cytochrome c oxidase assembly factor 5), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 | AGCTAAAGCCATACTTTTAAAAAAAAATTTTAAAACACAGGAATCAGGATGGTGAACTGCTCATACTATGAGAGAACAGCAGATTCAAACTTCCCATCTCACCTTCAATAAGATGCACACTCACTTTAATAGCATACAAAATTACCCACACAATTTAAATGTTTATATTTCTGGGTTTTTTGCCAAGCATGTATAACAAGTTGCATTAACAGCGATATGACTCTACTCATTTTGGAGGACTAACAGTAAAACATGGTCTTGGAGAAAGATTATAAAAAGGTCCCTAAGCTGGTCGGGTGTTAATGGCTCATGCCTGTAAT... | AGCTAAAGCCATACTTTTAAAAAAAAATTTTAAAACACAGGAATCAGGATGGTGAACTGCTCATACTATGAGAGAACAGCAGATTCAAACTTCCCATCTCACCTTCAATAAGATGCACACTCACTTTAATAGCATACAAAATTACCCACACAATTTAAATGTTTATATTTCTGGGTTTTTTGCCAAGCATGTATAACAAGTTGCATTAACAGCGATATGACTCTACTCATTTTGGAGGACTAACAGTAAAACATGGTCTTGGAGAAAGATTATAAAAAGGTCCCTAAGCTGGTCGGGTGTTAATGGCTCATGCCTGTAAT... |
Task1_train_3909 | Here is a mutation in LIPT1, MITD1 (lipoyltransferase 1| microtubule interacting and trafficking domain containing 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Lipoyl transferase 1 deficiency | CTTAACCTCAAGTTATACACTTTAATAATCCATTCTATTCCCAGTTCTTCAACCTGAAGGAAAATTATATTCTAAGAAATAGAATTGGAATAGAATGATTTAAGACCATAAGTAATCAAAATACTTCATTTTCATAGCTAGTATTTTCAACCTTTTGCTGCCTAATATTTCATTAGCAATGGTAACATGAATAATGTGGAAAGCATCCAAACATAGTGAATTTATTCTTAGCCTTTGTATATAAACCTGCATACTCCCAGTTGCCTCTCTCTCTGACCTCAAGGGTTCATCCTAAGTTAATATTGATCTAAATAAAAGTT... | CTTAACCTCAAGTTATACACTTTAATAATCCATTCTATTCCCAGTTCTTCAACCTGAAGGAAAATTATATTCTAAGAAATAGAATTGGAATAGAATGATTTAAGACCATAAGTAATCAAAATACTTCATTTTCATAGCTAGTATTTTCAACCTTTTGCTGCCTAATATTTCATTAGCAATGGTAACATGAATAATGTGGAAAGCATCCAAACATAGTGAATTTATTCTTAGCCTTTGTATATAAACCTGCATACTCCCAGTTGCCTCTCTCTCTGACCTCAAGGGTTCATCCTAAGTTAATATTGATCTAAATAAAAGTT... |
Task1_train_3910 | Gene AFF3 (ALF transcription elongation factor 3) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; KINSSHIP syndrome | GTGGGAGTGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAG... | GTGGGAGTGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAG... |
Task1_train_3911 | Here is a variant affecting AFF3 (ALF transcription elongation factor 3) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; KINSSHIP syndrome | TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCC... | TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCC... |
Task1_train_3912 | This is a variant in AFF3 (ALF transcription elongation factor 3), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCC... | TGGACTGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCC... |
Task1_train_3913 | This variant lies on Chromosome 2 and affects the gene AFF3 (ALF transcription elongation factor 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; KINSSHIP syndrome | TGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCT... | TGATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCT... |
Task1_train_3914 | Mutation context: Chromosome 2, Gene AFF3 (ALF transcription elongation factor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; KINSSHIP syndrome | GATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTC... | GATTAAACAGACAAGTGTTATAAGGTTCAAATTACAACATTTCTCCTAATATGCAGTGCTTTTAACTATGATAAACACTGCACCCCCCTTCACAAAAAAAAAAAGAACCCACCCACCAATTTTTAACTTTCTTCTACAAACACCTCTTATCTCTTCTCTATCAAAGCATGACTGGCCTTTTTGAAATATTCAGGACAAAAAGTTAGGAAGAGGGCAGGCTCGCTAGTTCAATGTCACTACATATAGGGGAAATGGAACACTTCCCATAGAAAGCTCTGATTTCTCTCAGCGTGAGTCTCTGTCTGAGGCATCCCCCTCTC... |
Task1_train_3915 | Located on Chromosome 2, this mutation impacts POU3F3 (POU class 3 homeobox 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Snijders blok-fisher syndrome | GGGAAAAAAATAAAACACCAACCCCAACCGTCAGCAACAAGGTAACAGAGCGATTCGACATCATTTTTTTTCCTGTTCAATTTTTTCCTTGTTATATTTGTTTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCG... | GGGAAAAAAATAAAACACCAACCCCAACCGTCAGCAACAAGGTAACAGAGCGATTCGACATCATTTTTTTTCCTGTTCAATTTTTTCCTTGTTATATTTGTTTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCG... |
Task1_train_3916 | This mutation is located in gene POU3F3 (POU class 3 homeobox 3) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Snijders blok-fisher syndrome | TTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCGAGCAGCCAGCAGCACCACGCCTTCAAGGACGAAAAAGTTTTACTACTCTAAGGGAAAACGAGTGAAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGA... | TTCCTAATTTCTGCCCAAAAGGAAAGATGTCGCATCAGACTGTGACTGTTGCGAGGAGAATGAAAAAGGACTCTTGTTTCAGAGGCAACCAAGAGCTCCGGCAATAGCAACTTCAGAGAAATGCACCATCGCAAGAAGTTTTCCTAGGACAGAACAAAACTTGAAACGAGAGGACCAGAGGGGGAGAGCAGGAGCCAGCCTCCCCTCTCCGCACTCGCGAGCAGCCAGCAGCACCACGCCTTCAAGGACGAAAAAGTTTTACTACTCTAAGGGAAAACGAGTGAAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGA... |
Task1_train_3917 | A genetic alteration is present in POU3F3 (POU class 3 homeobox 3) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Inborn genetic diseases | AAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTG... | AAATGTGTTCCTGAGGAGGAGAGGAGAGGAGAGGAGAGAGCGGACAAGAGAAGGAGCGGGCCGGTTGCTGGTCATCCGTAATTTGGCTAAGGAAGAAAGGAGCAGCTTCTTTCTTTGTTATCTCCCGTGAAACCTTCACTTAGCAGGTGGACGGAGCCCCGCGACCGGGCAGAGTCCGGGCTCGCCCGAGGACAGGAGGAGGAGCGGGAGCCCGCGCGTCCCGGGAGAGCGCCCCGAGTGCAGGTCCCCGCCCCGCCCGGCGAGCCCCGCTGGAGCGAGCCCAGCGCGCCGGGGCTGGGGGGCGGCCACGACCCCCCCTG... |
Task1_train_3918 | This alteration occurs within gene SLC5A7 (solute carrier family 5 member 7) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital myasthenic syndrome 20 | AATCTCCGCCCAGTTTTCTGGAGGAGGAGATGGGAGTAGCAGGTACTTGTCTCAGGATGGGGATACCATGGCTGGCAGCGCGGACCAGAGCCCAGCCTGCCCCCCAGCTCCTTGGGCCCCGTTTCCTTCGCATCCCGCACACCCACCCTCCTCGCGAGGGCAGCGTCCCTAGCACACGCCCTAGCACCACTCTCCTCTGACGTCCGCCTCCGGATGTCTGACGATCGCCCCCGCCTGCCGCCCTTATAAAGGGGACTTTTCCCAATACTCGATCGATTCCCACCTCGCCCTGCGCCGCGCGCCCTCCGCCGGCGCCAACA... | AATCTCCGCCCAGTTTTCTGGAGGAGGAGATGGGAGTAGCAGGTACTTGTCTCAGGATGGGGATACCATGGCTGGCAGCGCGGACCAGAGCCCAGCCTGCCCCCCAGCTCCTTGGGCCCCGTTTCCTTCGCATCCCGCACACCCACCCTCCTCGCGAGGGCAGCGTCCCTAGCACACGCCCTAGCACCACTCTCCTCTGACGTCCGCCTCCGGATGTCTGACGATCGCCCCCGCCTGCCGCCCTTATAAAGGGGACTTTTCCCAATACTCGATCGATTCCCACCTCGCCCTGCGCCGCGCGCCCTCCGCCGGCGCCAACA... |
Task1_train_3919 | The gene SLC5A7 (solute carrier family 5 member 7) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Congenital myasthenic syndrome 20 | TATATGCACTCCTGTCAGCAGTGGATCTCAACCAAGGTGCATGCTGACATCATCTGGGGAATGGTGGGGAGATCTTTTAAAAATACGGATATGTGGCCTACTTCACAGGAATTTTATTTTAATAACTGAAGATAGAGATGGGCACTAGTGTTCTTTTAAAACCCCTAGGTGAGTTGAGAGCCAGAGTTGAGAGTCACAGGCTTAGAGACGTTTACCTGTCATCCTCATGACCTCCCTAAAGATCACTTTGAACTTGAGATTTCTGCTTTACACCTTTAGTAGTTTTTAATTAGGGGTTTTCTTTCTTGAAGAAAGTGATG... | TATATGCACTCCTGTCAGCAGTGGATCTCAACCAAGGTGCATGCTGACATCATCTGGGGAATGGTGGGGAGATCTTTTAAAAATACGGATATGTGGCCTACTTCACAGGAATTTTATTTTAATAACTGAAGATAGAGATGGGCACTAGTGTTCTTTTAAAACCCCTAGGTGAGTTGAGAGCCAGAGTTGAGAGTCACAGGCTTAGAGACGTTTACCTGTCATCCTCATGACCTCCCTAAAGATCACTTTGAACTTGAGATTTCTGCTTTACACCTTTAGTAGTTTTTAATTAGGGGTTTTCTTTCTTGAAGAAAGTGATG... |
Task1_train_3920 | This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | ACAGCCACCCCACTCTTTCGCTGAAAACATTCTGAGGAGGGTGCAAGCTGTTATCCTGGAATGGCACACTCATCACAAGTGACATTTGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGG... | ACAGCCACCCCACTCTTTCGCTGAAAACATTCTGAGGAGGGTGCAAGCTGTTATCCTGGAATGGCACACTCATCACAAGTGACATTTGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGG... |
Task1_train_3921 | This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAAC... | TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAAC... |
Task1_train_3922 | A sequence alteration has been identified in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAAC... | TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAAC... |
Task1_train_3923 | This alteration occurs within gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAAC... | TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAAC... |
Task1_train_3924 | This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAAC... | TGCAGTCTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAAC... |
Task1_train_3925 | A variant has been detected on Chromosome 2 in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCT... | CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCT... |
Task1_train_3926 | A variant was discovered on Chromosome 2, affecting EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCT... | CTAATTAAGGGGAGACTCACTCATCATCATCACAAGGCAGGGGGAAGGGGGCACCACAGGATTTCAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCT... |
Task1_train_3927 | The gene RANBP2, EDAR (RAN binding protein 2| ectodysplasin A receptor) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGC... | CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGC... |
Task1_train_3928 | This sequence change occurs on Chromosome 2, altering RANBP2, EDAR (RAN binding protein 2| ectodysplasin A receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGC... | CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGC... |
Task1_train_3929 | With a mutation on Chromosome 2 in gene RANBP2, EDAR (RAN binding protein 2| ectodysplasin A receptor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGC... | CAAAGAGGAATTAAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGC... |
Task1_train_3930 | Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAA... | AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAA... |
Task1_train_3931 | This gene mutation involves EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAA... | AAAAGGATAATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAA... |
Task1_train_3932 | Here is a mutation in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGT... | AATTAAGCTCTGCCGTGGAGTATTTAGCTTGCAGGGTAAACCAAATAGGTTCGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGT... |
Task1_train_3933 | The gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAA... | CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAA... |
Task1_train_3934 | Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAA... | CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAA... |
Task1_train_3935 | This sequence variant lies in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAA... | CGAAAAACAGCAGCAAACAGACACAGTAAATGATGATATTAAATATTCAGGACCTCATTATGATCCTCTCACAGTATGTACTACATTCGTTGGTGGGAAATTGCTTGTTGGTGTTAAAGATATGACTGATTTTCCCCCTAAAGCATTTTTTCAGTCATGCAACTTGTAATTTTTACAACCTCGCTTTATAAGTCAGAGACTTTGTTTTAATGTAGTAATAAACACAGACCTGCCATCAGGGAGTTCAGCAGTGAACTCTAACCCCTGGTGTGATCACTAGCCTGGCTCCTGAGCTCTTGGCAGTTACAGGGATAGTACAA... |
Task1_train_3936 | A genomic change on Chromosome 2 affects EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCC... | CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCC... |
Task1_train_3937 | Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCC... | CGAGGGCAGGGAGAGGGCAGCTAAGTCTAGGATAAATGACTGATCACGTTTCCCAGATGATGATGCCAGTGTGGACACGGTCTCTGGGGACACGGGAGGTCTGAGGCTCCGTGGCTGCTGCTCACCGACCCTGCGTTTCCCTACAGTGGGTGCCTGCACCAGGCTGTCTCCCGCCCCATGAGGGGAAGGCCCATGGAAGCACTGGGAGATGCCTTCCGATATCTGGGAACAAGATTCTGTTTCCCCACACCTGAAATAGTTTCCAGCGGCCATTCTGACCAAAGTGCGGCAACTGGATGGGCGGCTTCCCTCAGTTCCCC... |
Task1_train_3938 | A variant affecting Chromosome 2, within the gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Non-syndromic oligodontia | GCAAGTCTGACGGTGGTTTGCGTAATCCACCATTTGTTGCTGCAGAGTACCAAGGATGTGCACTTTGTTTGGCGAGGGCCCAGGTAAATCAAGAAAACAGAGGGGAGGAAGAGGTGCTCTTGACCACAACTGTGGGTTTGACAAAGACAGGGCCTGCTGGACCTGGGCAGCCAGTTGGCAACTTCGGGCTCCTGATGAAATGTTTGCTGCCCAGAGTGGGGCTGCTGATGGCAGTCCTGTGTGTGTGGGTCTTAGTGACTCCATGGGGCTTTCTAGCTCCGACGTTTTTGCTGACTGCTGGGCAGGTGCTCTGAGTAAAG... | GCAAGTCTGACGGTGGTTTGCGTAATCCACCATTTGTTGCTGCAGAGTACCAAGGATGTGCACTTTGTTTGGCGAGGGCCCAGGTAAATCAAGAAAACAGAGGGGAGGAAGAGGTGCTCTTGACCACAACTGTGGGTTTGACAAAGACAGGGCCTGCTGGACCTGGGCAGCCAGTTGGCAACTTCGGGCTCCTGATGAAATGTTTGCTGCCCAGAGTGGGGCTGCTGATGGCAGTCCTGTGTGTGTGGGTCTTAGTGACTCCATGGGGCTTTCTAGCTCCGACGTTTTTGCTGACTGCTGGGCAGGTGCTCTGAGTAAAG... |
Task1_train_3939 | Here is a variant affecting EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Oligodontia | CTCTGAGGCACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACG... | CTCTGAGGCACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACG... |
Task1_train_3940 | Consider this mutation in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | ACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCA... | ACGTGCTGAGGGTGTCTCTGCACAGGGTCCCTTGCCTGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCA... |
Task1_train_3941 | The gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATG... | TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATG... |
Task1_train_3942 | This mutation is located in gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATG... | TGCCCAGCAGGTGTGCTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATG... |
Task1_train_3943 | Gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | CTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGT... | CTGGGCCTTGCTATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGT... |
Task1_train_3944 | Assess the clinical impact of this variant on gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGC... | ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGC... |
Task1_train_3945 | Given this variant in gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGC... | ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGC... |
Task1_train_3946 | A change on Chromosome 2 affects gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGC... | ATGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGC... |
Task1_train_3947 | This genomic variant is located on Chromosome 2, within the EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCC... | TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCC... |
Task1_train_3948 | A mutation found in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCC... | TGTCCTGGGTGCTGAGAGTGGTGTGGACTGAGCAGGTCACTGTCCCATGGAGTAGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCC... |
Task1_train_3949 | With a mutation on Chromosome 2 in gene EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | AGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCT... | AGGGCGGGAGGCATCAAGATTCCAGCACTGGAAAGAATGTTTAAAAGCCCAGAGAGCAGCCTGCCCACTAATTCTGCAGATGGCTGTCCACATTCGCCTGAATTCTTCTAGAGGCAGGGAGCTCACCACCCTTCCAGTGTCCAACTTCTTTAGTAATTACACACTTTCTGGTAAATGTATCAGAACCAAGCACGTGGTCTTCAGGCCATAGAGTCAGCCCTGGCCTTCGGGTACTGATGGACACCTTCTCAGGTCTGAACCGTAGCCAGGCCAGAGCCAGCAGCATAGGTCGGCGAGGTTCCGTGGTGCACCCACCCTCT... |
Task1_train_3950 | This genomic variant is located on Chromosome 2, within the EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inborn genetic diseases | GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATC... | GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATC... |
Task1_train_3951 | A genetic alteration is present in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATC... | GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATC... |
Task1_train_3952 | Here’s a variant in EDAR, RANBP2 (ectodysplasin A receptor| RAN binding protein 2) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATC... | GCTCTGGCCACAGGGACCCAATCAGAGCCCCAGGCACTGCCCAGCTGCTCAGCCCTCTGAACTCTGGCGTCGGCATCTCCACTTGCAGGCCTCTGTCCTAGTCCTACTTCTTAGCCTAACTCATCCAGGCATCACCTCCACAAATCTCCCAAGACCTCTGCTGACACTACCTCCCCAGCCATGAGGTGAGAGGTCCTTCTGCAACTCCTAGGACACTCTGAGTGTGCCTTATGCACTAAGCTGTGGTCACCTCCCCCGTCCCCACTGGCCTCATCACTGCCATCACCTCCCTTGTCCCCACCAGCCTCATCACTGCCATC... |
Task1_train_3953 | Here is a mutation in NPHP1 (nephrocystin 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Joubert syndrome with renal defect | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... |
Task1_train_3954 | A variant was discovered in gene NPHP1 (nephrocystin 1), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Nephronophthisis 1 | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... |
Task1_train_3955 | Gene NPHP1 (nephrocystin 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Joubert syndrome with renal defect | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... |
Task1_train_3956 | Given a variant located on Chromosome 2 and affecting NPHP1 (nephrocystin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Senior-Loken syndrome 1 | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... |
Task1_train_3957 | A variant found in Chromosome 2 affects NPHP1 (nephrocystin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; NPHP1-related disorder | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... |
Task1_train_3958 | This variant lies on Chromosome 2 and affects the gene NPHP1 (nephrocystin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Retinal dystrophy | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... |
Task1_train_3959 | Here’s a variant in NPHP1 (nephrocystin 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inborn genetic diseases | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... |
Task1_train_3960 | Mutation context: Chromosome 2, Gene NPHP1 (nephrocystin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Nephronophthisis | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... | TACAAAAAATACAAAAATTACCTGGGCATGGTGGTGTAGGCCTGTGGCCCCAGCTACTCAGGAAGCTGAAGTGGGAGGGTCGCTTGAGCCCAGGAATTTGAGGTTACAGTGAGCCATGATCACACCACTGCCCTCTAGCCTGGGTGACAGAGGGAGACCCTGTCTCAAAAATACTACTACTACTGCTACTACTACTATAAATGATAATAATGGCTAACATCTATTGAGTTCTTTTCATATGCCAGGCATTATTCAAAACCCTTCACACACATAATTATCAAAATAACTTTATGTTGGAAGCATTACTATTACTCCATCTT... |
Task1_train_3961 | Here’s a variant in BUB1 (BUB1 mitotic checkpoint serine/threonine kinase) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Colorectal cancer with chromosomal instability, somatic | GAGTCTGTCATTGTCTATTGGCCTTTCCGAGTCTTTTTTGTACTGACACTTTTGAACACTAGTCAGAAACTCCGTAGAATGTCCCTACACAGTTTGGGCTTATTTGATGTTTTCTCATGATTAGACTGGGGTTACAGATTTTTGGGAAGGATATCAGAGGTGAAATGTTCTTCTCATTACATCATATTAGGGGATATCTGCTGTCAACATGACTTATTCCTGGTTAACCCAATCACTTGATTAGGCAGAATCTCCCATGTTTCCCTACTGTAATCTAATTTTCCCTTTCCCTTTGCTTTTTGTCTGAAGCAAGTCACCAA... | GAGTCTGTCATTGTCTATTGGCCTTTCCGAGTCTTTTTTGTACTGACACTTTTGAACACTAGTCAGAAACTCCGTAGAATGTCCCTACACAGTTTGGGCTTATTTGATGTTTTCTCATGATTAGACTGGGGTTACAGATTTTTGGGAAGGATATCAGAGGTGAAATGTTCTTCTCATTACATCATATTAGGGGATATCTGCTGTCAACATGACTTATTCCTGGTTAACCCAATCACTTGATTAGGCAGAATCTCCCATGTTTCCCTACTGTAATCTAATTTTCCCTTTCCCTTTGCTTTTTGTCTGAAGCAAGTCACCAA... |
Task1_train_3962 | Given this variant in gene BUB1 (BUB1 mitotic checkpoint serine/threonine kinase) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CTGCCTAAAAAGCAATATTTACTTCTAGCTATCACCTCGGTATATGAATGAAATCAATGTTTCTTATGACTCAAAATCCAGAAGCCACAAAAGAAAAGCTAAATAAAGACAACTATATATAAATAAAAACTTCTCCATGGCAAATAACCAAAACAAACAAAAAAACCACAAAATAGTCAAAAGAGAAATGATAAACTGGAAAAACAATGAGCTTTTAGAAGCTGAGAAAAAAACTATTAACCTATTTTTTTTTAATGAGCAAAGGGCATAATAAATTATTTCACAGAAAAAGATACATGGCTCACAAACATGAAAAATGT... | CTGCCTAAAAAGCAATATTTACTTCTAGCTATCACCTCGGTATATGAATGAAATCAATGTTTCTTATGACTCAAAATCCAGAAGCCACAAAAGAAAAGCTAAATAAAGACAACTATATATAAATAAAAACTTCTCCATGGCAAATAACCAAAACAAACAAAAAAACCACAAAATAGTCAAAAGAGAAATGATAAACTGGAAAAACAATGAGCTTTTAGAAGCTGAGAAAAAAACTATTAACCTATTTTTTTTTAATGAGCAAAGGGCATAATAAATTATTTCACAGAAAAAGATACATGGCTCACAAACATGAAAAATGT... |
Task1_train_3963 | Here is a variant affecting MERTK (MER proto-oncogene, tyrosine kinase) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinal dystrophy | ACTAAAAACATAAAAATTACCCGGGCGTGGTGGTGCATGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGTTTGCAGTGAGCTCAGATCGCGCCACTGCACCACTCCAGTCTGGGTGACAGAGCACGACTTCGTCTCAAAAAAAAAAAAATTCCACACTGCCATCATGGATATCCTCAAAAGAGTGGTAGGAGGAGTACAGTGGAAAATTAAGAGCAGCACACAAGATCAGAATGAGCAAAGACCAAATGATCTGGGAGCATACCTATGTTTTAAGAAAAGCAGATTGT... | ACTAAAAACATAAAAATTACCCGGGCGTGGTGGTGCATGCCTGTAATACCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGGAGAGTTTGCAGTGAGCTCAGATCGCGCCACTGCACCACTCCAGTCTGGGTGACAGAGCACGACTTCGTCTCAAAAAAAAAAAAATTCCACACTGCCATCATGGATATCCTCAAAAGAGTGGTAGGAGGAGTACAGTGGAAAATTAAGAGCAGCACACAAGATCAGAATGAGCAAAGACCAAATGATCTGGGAGCATACCTATGTTTTAAGAAAAGCAGATTGT... |
Task1_train_3964 | A genomic change on Chromosome 2 affects MERTK (MER proto-oncogene, tyrosine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive retinitis pigmentosa | TATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCGAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGGTTGGCT... | TATCATCTAGCATATTCCTCTGCAGACACTATTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTTCATCGAGATTTAGCTGCTCGAAACTGCATGTAAGAGTCCTCGGCTATCCTGGAAGGGTTTGGACCTCATGGTGTTTGGTCTTTGCAGGGTTAGTGAGAGGACCTGTTCCTGTTTAGATAGGCAAGGAAGCTGCAGTCAGCGGGGGATGGTGTGGCTTGCTCCGAAGATGGAAATATGGCTGGGTGTTTGGGAGTTTTCACTGCCTCTGTATCTGAGAGTCTGGTTGGCT... |
Task1_train_3965 | The gene MERTK (MER proto-oncogene, tyrosine kinase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinitis pigmentosa | GATAAATTATTTAAATACTTTCTCCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCC... | GATAAATTATTTAAATACTTTCTCCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCC... |
Task1_train_3966 | Here is a mutation in MERTK (MER proto-oncogene, tyrosine kinase) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinitis pigmentosa 38 | CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATT... | CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATT... |
Task1_train_3967 | Located on Chromosome 2, this mutation impacts MERTK (MER proto-oncogene, tyrosine kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinal dystrophy | CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATT... | CCTAAGACATGAAATAAATGAAAGTAAGTTAAATACCACAGCCTCTTGATGAAATAATGAAAAGGAGATTATGTCCCTAAGAACAGAATGTCTCAAAGCTCATCTTAGATGGCAAACAATCAAGGCTGTTTGGAAAACAGAGTCATGCAAATTGACTTACGCCTGAAAACCTCAAAAATAAAAACAGAAACCGTCTGTCAAGTCTAAGTGACCATCTAAAGAAGGTAAGACAGGGAAACAAAACAGAACCCCTAAGCCTGAGATGAGAACAAGGATTGTGAGACAGGGAAATGCGCCGTGCCGTTGTCTAGGCCTACATT... |
Task1_train_3968 | Here’s a variant in POLR1B (RNA polymerase I subunit B) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Treacher Collins syndrome 4 | ATGTTCAAGCAATTCTCCTGCCTCGGTCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGGTAATTTTTATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGCCCCGGCTGGTCTCGAACTCCTGACCTCAAATGAGCTACCTGCCTCATTAGTCTCAGATTTTATCTTTTTTATAGAGAATTTATTTTCATTCTCTTTTTTTTGGTTAGCATTGTGGAGCATCGGAGGATGAGGACACTTAAGATCTGCTCTCTTAGTAAATTTCAAGCATGCAATATAGTATTCTTAACTATAGTCACATGCTGTAC... | ATGTTCAAGCAATTCTCCTGCCTCGGTCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCATGCCTGGGTAATTTTTATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGCCCCGGCTGGTCTCGAACTCCTGACCTCAAATGAGCTACCTGCCTCATTAGTCTCAGATTTTATCTTTTTTATAGAGAATTTATTTTCATTCTCTTTTTTTTGGTTAGCATTGTGGAGCATCGGAGGATGAGGACACTTAAGATCTGCTCTCTTAGTAAATTTCAAGCATGCAATATAGTATTCTTAACTATAGTCACATGCTGTAC... |
Task1_train_3969 | Here’s a variant in POLR1B (RNA polymerase I subunit B) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Treacher Collins syndrome 4 | TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCA... | TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCA... |
Task1_train_3970 | Gene POLR1B (RNA polymerase I subunit B) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; POLR1B-related disorder | TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCA... | TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCA... |
Task1_train_3971 | Gene POLR1B (RNA polymerase I subunit B) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Treacher Collins syndrome 4 | TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCA... | TTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGTGCCCAGCCATGTCTGGGTTTTTGTAGTTAGTATCAGTGATTTGGAAAATGTGAGGAAAGTTAAAATGTGATGCCAGTTATCCTAAACCAAGTATGATAGTCCCACCTAGTTTTATTTTGAAAATCCTCAATTGGCCTCAGTCTTTTAACGATTCTTTTACTTCACAGATTGTGAATAAGGCCTCTTGGGAACGAGGCTTTGCCCA... |
Task1_train_3972 | A mutation on Chromosome 2 affecting CKAP2L (cytoskeleton associated protein 2 like) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Filippi syndrome | GAAGCTTTCTCTGCCGCTCTTCTGCAACACAGGCAAGCAAACAAACGACATAACTTTAGTTCAAGATTTTAACCAGTTCATTAATATTCTAAAAGATGACACTTTTCTCTAGTGATTTTGCCTTTGCAACATAATGTTATAAAATCCCTAGTCCTATAAATGTGCCTTCAAGCTAACATCAACATCAACAATATCATTTATATGCCAGGCCTACACTAAGTTCTTTAAACTTACTACTTTTTTTTTTTTTTTTGAGACAGGGTCTTCCTCTGTCACTGAGGTTGGAGGGCAGTGGCACAACCACGGCTCACTGTTGACTT... | GAAGCTTTCTCTGCCGCTCTTCTGCAACACAGGCAAGCAAACAAACGACATAACTTTAGTTCAAGATTTTAACCAGTTCATTAATATTCTAAAAGATGACACTTTTCTCTAGTGATTTTGCCTTTGCAACATAATGTTATAAAATCCCTAGTCCTATAAATGTGCCTTCAAGCTAACATCAACATCAACAATATCATTTATATGCCAGGCCTACACTAAGTTCTTTAAACTTACTACTTTTTTTTTTTTTTTTGAGACAGGGTCTTCCTCTGTCACTGAGGTTGGAGGGCAGTGGCACAACCACGGCTCACTGTTGACTT... |
Task1_train_3973 | This gene mutation involves IL37 (interleukin 37) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Inflammatory bowel disease | TTCCACTCTAGGCACTGCTGAGGGAATGATGCCTCCAGTCAGAGGGTGCAAAAAAGAGAGTTAAGAAAAACAATGATTATAAAAAGTCCTTTTTATACGCCAGACATTTTCTTTGCTCAGGCTAAGTGCTACTTATTTGAGTAAGCATTTTAGTTCTCATAACTCCTCTCTCAAGTAGGTGCTGCTATTACTTTCATTTCACAGATGAGGACATTGAGGTTTGGAGAGACTTAGTAACTTGTCCTCTGTCCTACAGCAGAGCTGGGATTTGAATCTATCTGTCCAAATCTGGAACCCATTTGCTTGCACAGAAAGCTTAA... | TTCCACTCTAGGCACTGCTGAGGGAATGATGCCTCCAGTCAGAGGGTGCAAAAAAGAGAGTTAAGAAAAACAATGATTATAAAAAGTCCTTTTTATACGCCAGACATTTTCTTTGCTCAGGCTAAGTGCTACTTATTTGAGTAAGCATTTTAGTTCTCATAACTCCTCTCTCAAGTAGGTGCTGCTATTACTTTCATTTCACAGATGAGGACATTGAGGTTTGGAGAGACTTAGTAACTTGTCCTCTGTCCTACAGCAGAGCTGGGATTTGAATCTATCTGTCCAAATCTGGAACCCATTTGCTTGCACAGAAAGCTTAA... |
Task1_train_3974 | The gene IL36RN (interleukin 36 receptor antagonist), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Generalized pustular psoriasis | GAAAGATGGAAAGAAGGAAGAAAGGGAGGGAGGCAGGGAGGAAAGAAAGTCGCGCTTCCCTTGAGCTGCCATGGGCACTGACTCTTAGGGTCTGAAAGCCCCTGAGATGCAAAAGCCTAGTGCTCACAAAGAGCTGGAAAGCCTCAAGGAAGTTCTTCAATATTTCTGGAAGGAAACTGTCTCCAGAAGCTTCCCTCCCCACGACAGATAATGAGCAGCAAGTGCTTCTGGCGACTTAGGGTGATGTGAAATCACGCTGGGAATCCTGCTCCTCCTCAGGTCCTGGCAGTTTCAGGGCCCCTCCCTAGGCCTTACTTAAA... | GAAAGATGGAAAGAAGGAAGAAAGGGAGGGAGGCAGGGAGGAAAGAAAGTCGCGCTTCCCTTGAGCTGCCATGGGCACTGACTCTTAGGGTCTGAAAGCCCCTGAGATGCAAAAGCCTAGTGCTCACAAAGAGCTGGAAAGCCTCAAGGAAGTTCTTCAATATTTCTGGAAGGAAACTGTCTCCAGAAGCTTCCCTCCCCACGACAGATAATGAGCAGCAAGTGCTTCTGGCGACTTAGGGTGATGTGAAATCACGCTGGGAATCCTGCTCCTCCTCAGGTCCTGGCAGTTTCAGGGCCCCTCCCTAGGCCTTACTTAAA... |
Task1_train_3975 | A mutation found in IL36RN (interleukin 36 receptor antagonist) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Acrodermatitis continua suppurativa of Hallopeau | CAGCATTGGAGGCAGAGATGGGGCAAGAACCTAGGGCTCTGACTCACCGTGCAGCTTCTCTTCCAGCAGGAGATGGGTTGGGGCAGAAAAGGTTGAATAGGGTGAAGGAGCAAACCACAGACTCCAGTGGGAGACTGTGGGGTCATCCTCCTTGTAGGGCATGAGCCCAGCAGGGCTGGGAGACAAGGCTGTGCTGTTACTTCTGGCACAGTAGGAAGAAAGAGAGACAAAATGCCTGAGATCAGGGGGTTCTCTGGATCCAGGGCATGCTGGAGTGTCCACCCTCCTCCTAATGTAGTCCTCACCCCTTCCTGATGTTT... | CAGCATTGGAGGCAGAGATGGGGCAAGAACCTAGGGCTCTGACTCACCGTGCAGCTTCTCTTCCAGCAGGAGATGGGTTGGGGCAGAAAAGGTTGAATAGGGTGAAGGAGCAAACCACAGACTCCAGTGGGAGACTGTGGGGTCATCCTCCTTGTAGGGCATGAGCCCAGCAGGGCTGGGAGACAAGGCTGTGCTGTTACTTCTGGCACAGTAGGAAGAAAGAGAGACAAAATGCCTGAGATCAGGGGGTTCTCTGGATCCAGGGCATGCTGGAGTGTCCACCCTCCTCCTAATGTAGTCCTCACCCCTTCCTGATGTTT... |
Task1_train_3976 | Given this context: Chromosome 2, gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Congenital hypothyroidism | TTCTCAACTCATTCATTTGTTCATTCATTCACTATACCATTACTGTCTATTATAAGGGGGGCACAATGGTAGGTGCTGGGAATAAAAACGATGTTTAACGTTTCATGAGGCTTCCCTGTCCTTAAGGAGTCCGCGTGTCTTTGTACCTGTCTGTCTGCTAGATTATTAAGTGACACTGTGAGAAGCTACTGAGAGCAGCATGTGGGACATGCAGAAGGGCAAGAGGCAGGAGAGATGATTCATGTCGGAGGGGCAGGGGAGGACTGACGGAGAGGGTGATGTTTGGCTGAGTCATGAAGGCTAGTGGTATTTTTCCATGC... | TTCTCAACTCATTCATTTGTTCATTCATTCACTATACCATTACTGTCTATTATAAGGGGGGCACAATGGTAGGTGCTGGGAATAAAAACGATGTTTAACGTTTCATGAGGCTTCCCTGTCCTTAAGGAGTCCGCGTGTCTTTGTACCTGTCTGTCTGCTAGATTATTAAGTGACACTGTGAGAAGCTACTGAGAGCAGCATGTGGGACATGCAGAAGGGCAAGAGGCAGGAGAGATGATTCATGTCGGAGGGGCAGGGGAGGACTGACGGAGAGGGTGATGTTTGGCTGAGTCATGAAGGCTAGTGGTATTTTTCCATGC... |
Task1_train_3977 | With a mutation on Chromosome 2 in gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hypothyroidism, congenital, nongoitrous, 2 | AGGCTTCTGGGTAGGGGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGAC... | AGGCTTCTGGGTAGGGGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGAC... |
Task1_train_3978 | A variant on Chromosome 2 in gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypothyroidism, congenital, nongoitrous, 2 | GGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGT... | GGTATGAGAGTGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGT... |
Task1_train_3979 | This alteration in PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hypothyroidism, congenital, nongoitrous, 2 | TGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTT... | TGAAATGTGCCTCCAAGGCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTT... |
Task1_train_3980 | Here is a variant affecting PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hypothyroidism, congenital, nongoitrous, 2 | GCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGG... | GCTGGTCTCAAACGCTTGATGTGCATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGG... |
Task1_train_3981 | A mutation on Chromosome 2 affecting PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypothyroidism, congenital, nongoitrous, 2 | ATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGA... | ATGGAACTATCTGTTTCCCTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGA... |
Task1_train_3982 | This is a variant in PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Congenital hypothyroidism | CTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTT... | CTCACTTGGGTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTT... |
Task1_train_3983 | This sequence variant lies in PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTT... | GTAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTT... |
Task1_train_3984 | The gene PAX8, PAX8-AS1 (paired box 8| PAX8 antisense RNA 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypothyroidism, congenital, nongoitrous, 2 | TAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTC... | TAGGTTCATGCTACTGCCAAACCAGCACCCTCTGCTAAAGGCCTCACCTTGGCTTCTCTCTCTTCCTTCCCTCTGGCCAGTCTCTTGTGTCCTAGCATCTGCAACAGCCATTGTATGGGGCACAAAAGATTTCCCTTCTAAGAAAGGAAATCTTGGTGTGCCTGATGTGTGAATGACAGGGGCACAGCAGTTTGCTCTATCCAGCTTCTTTTGGCTAAAGCACGACTGAGGTTTTTTTTGTTTTTTTTTTTTGTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTAGAATGCAATGGGACAAGCTTGGCTCACTTC... |
Task1_train_3985 | This alteration in GLI2 (GLI family zinc finger 2) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Holoprosencephaly 9 | GATCTCAAACTTAATTTTTCAACTTGTACCACCTCTTTGGGGTAAACAAGCCCTAGATGGAGCAGGGACCGTGGAGCTGTGAGTTGCAGAACAAATCAGTTAGATGAAAGGAGGAGAGAGGGACAGTCTCTCAGGCCAGGGGAAGGCCAAAGCCAGAGCATGCAGATGAGGATGTCAAAGACGTGCTCTGTGATAAGTGGGTCAGCCCCAAAGAGCAGGCACGGAATTCCTCAGATGAATGCGGAGGGTCCCCAAACTGGGAGGAGGGCTTTAGCCAGGGGCTTCTGCCTGTGCCCTGGACTGTCCTGGAGCTATAGGTG... | GATCTCAAACTTAATTTTTCAACTTGTACCACCTCTTTGGGGTAAACAAGCCCTAGATGGAGCAGGGACCGTGGAGCTGTGAGTTGCAGAACAAATCAGTTAGATGAAAGGAGGAGAGAGGGACAGTCTCTCAGGCCAGGGGAAGGCCAAAGCCAGAGCATGCAGATGAGGATGTCAAAGACGTGCTCTGTGATAAGTGGGTCAGCCCCAAAGAGCAGGCACGGAATTCCTCAGATGAATGCGGAGGGTCCCCAAACTGGGAGGAGGGCTTTAGCCAGGGGCTTCTGCCTGTGCCCTGGACTGTCCTGGAGCTATAGGTG... |
Task1_train_3986 | This variant impacts the gene BIN1 (bridging integrator 1) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Myopathy, centronuclear, 2 | GCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGGATTGCTTGAGTTGGGGAAGTCAAGGCTGCAGTGAGTCATGATCACACCACTGCACTCCAGCCAGGGGAACGGAGAGAAACCCGTTCAAAAAAAAAAAAAAAATAGAAAAAGAAATTGGACAGCAAGCCATGCCAAGCCCACCCAGAGCTCTCCACGTCACAGGCACTCAATGAAGATGATGAAATCAAGAGGAGGCTCCGAAAAAATGGGGCAGCTGCCCAGAGAGAAACCCAACCTCCGGGGCCGGGCCCCTATCGCCAGCCTCTCGGGAATATGGAGAA... | GCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGGATTGCTTGAGTTGGGGAAGTCAAGGCTGCAGTGAGTCATGATCACACCACTGCACTCCAGCCAGGGGAACGGAGAGAAACCCGTTCAAAAAAAAAAAAAAAATAGAAAAAGAAATTGGACAGCAAGCCATGCCAAGCCCACCCAGAGCTCTCCACGTCACAGGCACTCAATGAAGATGATGAAATCAAGAGGAGGCTCCGAAAAAATGGGGCAGCTGCCCAGAGAGAAACCCAACCTCCGGGGCCGGGCCCCTATCGCCAGCCTCTCGGGAATATGGAGAA... |
Task1_train_3987 | Given a variant located on Chromosome 2 and affecting BIN1 (bridging integrator 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Myopathy, centronuclear, 2 | GGCCACACAGAGTCTCAGCTCCCAACTGTGCTTCCCTCACTCTGCCAAAGCTCAGCCTGTTTTTTGTTTGTTTGTTTGTTTTGAGACCGGAGTCTTGCTCTGTAGCCCAGGCTGGAGTCCAGTGGCATGATCTCGGCCCACCGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTTCTGCCCCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGCCTGCCTTGGCCC... | GGCCACACAGAGTCTCAGCTCCCAACTGTGCTTCCCTCACTCTGCCAAAGCTCAGCCTGTTTTTTGTTTGTTTGTTTGTTTTGAGACCGGAGTCTTGCTCTGTAGCCCAGGCTGGAGTCCAGTGGCATGATCTCGGCCCACCGCAACCTCTGCCTCCCAGGTTCAAGAGATTCTTCTGCCCCAGCCTCCCGAGTAGCTAGGACTACAGGCACACACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCTGCCTGCCTTGGCCC... |
Task1_train_3988 | The gene ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Trichothiodystrophy 2, photosensitive | CCCAAATAGAATGTAAGCATCTTGATGGCAGAGAATACAGCTTAAATCCTCCCAGGTTCCCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTG... | CCCAAATAGAATGTAAGCATCTTGATGGCAGAGAATACAGCTTAAATCCTCCCAGGTTCCCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTG... |
Task1_train_3989 | This sequence variant lies in ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Trichothiodystrophy 2, photosensitive | CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCT... | CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCT... |
Task1_train_3990 | Gene ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Xeroderma pigmentosum group B | CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCT... | CCAACCACCTTTAGGAAGGAATACAGTAGAGGCTGTGTGGCAACAATAAAAATTTGCCACTCAGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGCCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCATGGTGACGGGCGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAACTGCTTGAGCCTGGGAGGTAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCTATCCAGCCT... |
Task1_train_3991 | This is a variant in PROC (protein C, inactivator of coagulation factors Va and VIIIa), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | GGAGGTGAGGGTGGAGCCCAGTGCCCAGCACCTATGCACTGGGGACCCAAAAAGGAGCATCTTCTCATGATTTTATGTATCAGAAATTGGGATGGCATGTCATTGGGACAGCGTCTTTTTTCTTGTATGGTGGCACATAAATACATGTGTCTTATAATTAATGGTATTTTAGATTTGACGAAATATGGAATATTACCTGTTGTGCTGATCTTGGGCAAACTATAATATCTCTGGGCAAAAATGTCCCCATCTGAAAAACAGGGACAACGTTCCTCCCTCAGCCAGCCACTATGGGGCTAAAATGAGACCACATCTGTCAA... | GGAGGTGAGGGTGGAGCCCAGTGCCCAGCACCTATGCACTGGGGACCCAAAAAGGAGCATCTTCTCATGATTTTATGTATCAGAAATTGGGATGGCATGTCATTGGGACAGCGTCTTTTTTCTTGTATGGTGGCACATAAATACATGTGTCTTATAATTAATGGTATTTTAGATTTGACGAAATATGGAATATTACCTGTTGTGCTGATCTTGGGCAAACTATAATATCTCTGGGCAAAAATGTCCCCATCTGAAAAACAGGGACAACGTTCCTCCCTCAGCCAGCCACTATGGGGCTAAAATGAGACCACATCTGTCAA... |
Task1_train_3992 | Gene PROC (protein C, inactivator of coagulation factors Va and VIIIa), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | TTGACAGCATTAATAACTACCTCTTGGGTGGTTGTGAGCCTTAACTGAAGTCATAATATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAG... | TTGACAGCATTAATAACTACCTCTTGGGTGGTTGTGAGCCTTAACTGAAGTCATAATATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAG... |
Task1_train_3993 | Here’s a variant in PROC (protein C, inactivator of coagulation factors Va and VIIIa) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | ATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGG... | ATCTCATGTTTACTGAGCATGAGCTATGTGCAAAGCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGG... |
Task1_train_3994 | This is a variant in PROC (protein C, inactivator of coagulation factors Va and VIIIa), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; PROC-related disorder | GCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGAC... | GCCTGTTTTGAGAGCTTTATGTGGACTAACTCCTTTAATTCTCACAACACCCTTTAAGGCACAGATACACCACGTTATTCCATCCATTTTACAAATGAGGAAACTGAGGCATGGAGCAGTTAAGCATCTTGCCCAACATTGCCCTCCAGTAAGTGCTGGAGCTGGAATTTGCACCGTGCAGTCTGGCTTCATGGCCTGCCCTGTGAATCCTGTAAAAATTGTTTGAAAGACACCATGAGTGTCCAATCAACGTTAGCTAATATTCTCAGCCCAGTCATCAGACCGGCAGAGGCAGCCACCCCACTGTCCCCAGGGAGGAC... |
Task1_train_3995 | Consider a variant on Chromosome 2 in gene PROC (protein C, inactivator of coagulation factors Va and VIIIa). Determine its clinical classification and disease relevance. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | CAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCG... | CAGAGCAAGGCTTCGTCCTCCAACTGCCATCTGCTTCCTGGGGAGGAAAAGAGCAGAGGACCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCG... |
Task1_train_3996 | The following genetic variant occurs in PROC (protein C, inactivator of coagulation factors Va and VIIIa) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | CCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGA... | CCCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGA... |
Task1_train_3997 | A genomic change on Chromosome 2 affects PROC (protein C, inactivator of coagulation factors Va and VIIIa). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | CCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGAT... | CCCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGAT... |
Task1_train_3998 | A genomic change on Chromosome 2 affects PROC (protein C, inactivator of coagulation factors Va and VIIIa). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | CCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATG... | CCTGCGCCAAGCCATGACCTAGAATTAGAATGAGTCTTGAGGGGGCGGAGACAAGACCTTCCCAGGCTCTCCCAGCTCTGCTTCCTCAGACCCCCTCATGGCCCCAGCCCCTCTTAGGCCCCTCCACCAAGGTGAGCTCCCCCTCCCTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATG... |
Task1_train_3999 | With a mutation on Chromosome 2 in gene PROC (protein C, inactivator of coagulation factors Va and VIIIa), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | CTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGG... | CTCCAAAACCAGACTCAGTGTTCTCCAGCAGCGAGCGTGCCCACCAGGTGCTGCGGATCCGCAAACGTGCCAACTCCTTCCTGGAGGAGCTCCGTCACAGCAGCCTGGAGCGGGAGTGCATAGAGGAGATCTGTGACTTCGAGGAGGCCAAGGAAATTTTCCAAAATGTGGATGACACAGTAAGGCCACCATGGGTCCAGAGGATGAGGCTCAGGGGCGAGCTGGTAACCAGCAGGGGCCTCGAGGAGCAGGTGGGGACTCAATGCTGAGGCCCTCTTAGGAGTTGTGGGGGTGGCTGAGTGGAGCGATTAGGATGCTGG... |
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