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 |
|---|---|---|---|---|
Task1_train_30400 | A mutation found in PHKA1 (phosphorylase kinase regulatory subunit alpha 1) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Glycogen storage disease IXd | ATAGAGAAACTGAAGAAGTCAATGATAATAGTTGGGCACTCAATGGTCAGGAGTGAAACCAAAAATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAGGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA... | ATAGAGAAACTGAAGAAGTCAATGATAATAGTTGGGCACTCAATGGTCAGGAGTGAAACCAAAAATTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAGGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA... |
Task1_train_30401 | A mutation on Chromosome X affecting PHKA1 (phosphorylase kinase regulatory subunit alpha 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Glycogen storage disease IXd | TAATGGGACTGAATCAGTAATAAAATGTACTCCGATGAAGAAAAGTCCAGGAATGGATGGCTTTATTGCTGAGTTCTACCAAACTTTTAAAGAGCTAAAACCAAACTACTCCAGTAAATTGAAGGGGAGGGAATTCTTCCAAACTCACTACAAGGCCAGCAGTACCCTGAAACCAAAACTGACGAGGACACAAGAACAACAAAAAACCCATGGGCCAATATCCCTGATGAACATAGATGCAAAAATCCTCAACAAAATACTGTCAAAACAAATCCAACAGCACATCAAAAAGATTATACACCATGATTAAATCTGATCAA... | TAATGGGACTGAATCAGTAATAAAATGTACTCCGATGAAGAAAAGTCCAGGAATGGATGGCTTTATTGCTGAGTTCTACCAAACTTTTAAAGAGCTAAAACCAAACTACTCCAGTAAATTGAAGGGGAGGGAATTCTTCCAAACTCACTACAAGGCCAGCAGTACCCTGAAACCAAAACTGACGAGGACACAAGAACAACAAAAAACCCATGGGCCAATATCCCTGATGAACATAGATGCAAAAATCCTCAACAAAATACTGTCAAAACAAATCCAACAGCACATCAAAAAGATTATACACCATGATTAAATCTGATCAA... |
Task1_train_30402 | Here is a variant affecting SLC16A2 (solute carrier family 16 member 2) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Spastic paraplegia | CTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTT... | CTGTCTCCTCCCAGGGAGCCTCAAATCCTAGACTCTTTTGGTGAAACACAGGGAGCATGAAGCTTCTCGTTATATGGAGACCTGCCTTGAATTCTAGCTTGTCCTTGACTTGGCCCATGATCTTAGGCTAATAAATGCCTTGACCTCGTTGAGCCTCAGTTTTCGTGCAAAAAAGCAGGTAATAATAAACCTTAGGGCAATAAGGGACGTGCTCTGTTCGGGCAATGCCTTCCCTGCTGAGTGGCGTGGCCCTGTGATTTTTGAATTTGGCTGATTCCTCTCATATGGCAGCGCAAGCCCCTCAGGACGTCTATATCCTT... |
Task1_train_30403 | Gene SLC16A2 (solute carrier family 16 member 2) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Inborn genetic diseases | CACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAAC... | CACGCAGCCCCGGAGCTGCATCACCTCTGGCTATGCAGTCTTTCACTTATCAGGAGGGTTAATGAGATGCAGGGTAGAAAGGTCTTGCCACTCGCCCGCCCGCTCGTGGAAGCCGAGTAGCTTGGTAACGACACCACGACTTCACGTTTAGTGCATTAGACGCGTAGACCCTTAGGGGAGGCAGAGCTTCCCGGTATCGCCGAGCGGGCCCTGAGGGCTGAGGCTGGGCACCCCTGCGCACCCCTGCTGAGTGCCCGGCCACCAGAAAGACAGATCCCCCACCTTTCCTTCTCCCTGACCCGGCGCGCTTCCTGGGGAAC... |
Task1_train_30404 | Mutation context: Chromosome X, Gene SLC16A2 (solute carrier family 16 member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Allan-Herndon-Dudley syndrome | TCAAGTCTAATATATCAAATCTTTTCTTTTATGGATCATACGATTTGTGAATATCTGCAAAATCTTTGCCTAACCAAAGGCCAGGAAGATTTGTCTCCTATATGTTCTTCTAGAAGTTTTATAGTTTTAAGTTTTACATTAAGTCTATGATCCATTTTGCATTGATTTTTAAACATGATGTGATTATTGATATTTACAAAGTTCTCTTCTTATACATATAATTTTATCTGATTTTTTTTTTTTCTTTAGATGGAGTCTCACTCTGTCACCCAGCCTGGAGCGCAGTGGTGAGATCTCGGCTCACTGCAAGCTCCGCCTCT... | TCAAGTCTAATATATCAAATCTTTTCTTTTATGGATCATACGATTTGTGAATATCTGCAAAATCTTTGCCTAACCAAAGGCCAGGAAGATTTGTCTCCTATATGTTCTTCTAGAAGTTTTATAGTTTTAAGTTTTACATTAAGTCTATGATCCATTTTGCATTGATTTTTAAACATGATGTGATTATTGATATTTACAAAGTTCTCTTCTTATACATATAATTTTATCTGATTTTTTTTTTTTCTTTAGATGGAGTCTCACTCTGTCACCCAGCCTGGAGCGCAGTGGTGAGATCTCGGCTCACTGCAAGCTCCGCCTCT... |
Task1_train_30405 | Given this variant in gene SLC16A2 (solute carrier family 16 member 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Allan-Herndon-Dudley syndrome | TATATCAAATCTTTTCTTTTATGGATCATACGATTTGTGAATATCTGCAAAATCTTTGCCTAACCAAAGGCCAGGAAGATTTGTCTCCTATATGTTCTTCTAGAAGTTTTATAGTTTTAAGTTTTACATTAAGTCTATGATCCATTTTGCATTGATTTTTAAACATGATGTGATTATTGATATTTACAAAGTTCTCTTCTTATACATATAATTTTATCTGATTTTTTTTTTTTCTTTAGATGGAGTCTCACTCTGTCACCCAGCCTGGAGCGCAGTGGTGAGATCTCGGCTCACTGCAAGCTCCGCCTCTTGGGTTCAAG... | TATATCAAATCTTTTCTTTTATGGATCATACGATTTGTGAATATCTGCAAAATCTTTGCCTAACCAAAGGCCAGGAAGATTTGTCTCCTATATGTTCTTCTAGAAGTTTTATAGTTTTAAGTTTTACATTAAGTCTATGATCCATTTTGCATTGATTTTTAAACATGATGTGATTATTGATATTTACAAAGTTCTCTTCTTATACATATAATTTTATCTGATTTTTTTTTTTTCTTTAGATGGAGTCTCACTCTGTCACCCAGCCTGGAGCGCAGTGGTGAGATCTCGGCTCACTGCAAGCTCCGCCTCTTGGGTTCAAG... |
Task1_train_30406 | This alteration in SLC16A2 (solute carrier family 16 member 2) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inborn genetic diseases | CTTCGTCCTGTCCAACTGGGACAGAGAAGGGAAAAACCGTGTCCTGCCTGGAAACTACTCAGCACTCCCAGGGCAGCAGCTCCAAACCTTTTCAGAACCCCTCTGGTGGTCAGCCTCATTCACCCCCAGCAAGCTGGTGCCTGGCTCCTTGTGGGGAGGAGCTAGGCTTCAAAAGCAGCTCCAGTCTCAGCACTATACAGCAAAGGTCTGTTTTTTAAGACCGAGCAGAGCAAAGTGTAAACGGATTAGCAACATATGGATTCCATTTCCCTTCCAATCCACATGGGCTCAATTACAGGAGGGGAAGGAGCTCAGATGTG... | CTTCGTCCTGTCCAACTGGGACAGAGAAGGGAAAAACCGTGTCCTGCCTGGAAACTACTCAGCACTCCCAGGGCAGCAGCTCCAAACCTTTTCAGAACCCCTCTGGTGGTCAGCCTCATTCACCCCCAGCAAGCTGGTGCCTGGCTCCTTGTGGGGAGGAGCTAGGCTTCAAAAGCAGCTCCAGTCTCAGCACTATACAGCAAAGGTCTGTTTTTTAAGACCGAGCAGAGCAAAGTGTAAACGGATTAGCAACATATGGATTCCATTTCCCTTCCAATCCACATGGGCTCAATTACAGGAGGGGAAGGAGCTCAGATGTG... |
Task1_train_30407 | A variant has been detected on Chromosome X in SLC16A2 (solute carrier family 16 member 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TTAGCAACATATGGATTCCATTTCCCTTCCAATCCACATGGGCTCAATTACAGGAGGGGAAGGAGCTCAGATGTGGTGTTTTCTTCTGGCACGCTACTGTAGGCACATTGGAGTAGGCGTTCTGTTCTCTAGCCCCTAACCTTCTTCTCTACCCGCTTTGTTCTTTCTGTAAGAGGATCTTCAGAGCCAAGAAACTTTCTGGATGGCTTCACATCCAGTGGAAAAATGGTTCTTCTCATGGCTAGAGCTCCAAATCATCCTTCCTGTTGTCTCAATCAGGGCCCTGAGTTCCTCCGAATGACATGGAATGGGGCAGGATG... | TTAGCAACATATGGATTCCATTTCCCTTCCAATCCACATGGGCTCAATTACAGGAGGGGAAGGAGCTCAGATGTGGTGTTTTCTTCTGGCACGCTACTGTAGGCACATTGGAGTAGGCGTTCTGTTCTCTAGCCCCTAACCTTCTTCTCTACCCGCTTTGTTCTTTCTGTAAGAGGATCTTCAGAGCCAAGAAACTTTCTGGATGGCTTCACATCCAGTGGAAAAATGGTTCTTCTCATGGCTAGAGCTCCAAATCATCCTTCCTGTTGTCTCAATCAGGGCCCTGAGTTCCTCCGAATGACATGGAATGGGGCAGGATG... |
Task1_train_30408 | An alteration has been detected in SLC16A2 (solute carrier family 16 member 2) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Allan-Herndon-Dudley syndrome | GGGCCTAGTGTAAAGGGACTTGGGATATGTGGACCTTGGGCAGGGTTTGGGAGGGCGTATGTCTCAGAAGAACATCAGCCATTCTCTGAAATATTAATGGCCTTAGCATGGAGAAAGACACTGAAGAGTCCCATGGAAGGTTTCAATCTTCCAGGATTTTGACTTCTTGCAGACCTTTGTTGCTACCTGGGATAAAAGCTTTGCCACCACCAATAGTAAGGTGAGGCTAGTCTCTCTAAGACAATGACTCCCTGTAGCCCCTCATCCAGCTTTTACATGGGCTAGTTCTGGCTTTCCTTTGAACAGTCCTCTTTGATGGG... | GGGCCTAGTGTAAAGGGACTTGGGATATGTGGACCTTGGGCAGGGTTTGGGAGGGCGTATGTCTCAGAAGAACATCAGCCATTCTCTGAAATATTAATGGCCTTAGCATGGAGAAAGACACTGAAGAGTCCCATGGAAGGTTTCAATCTTCCAGGATTTTGACTTCTTGCAGACCTTTGTTGCTACCTGGGATAAAAGCTTTGCCACCACCAATAGTAAGGTGAGGCTAGTCTCTCTAAGACAATGACTCCCTGTAGCCCCTCATCCAGCTTTTACATGGGCTAGTTCTGGCTTTCCTTTGAACAGTCCTCTTTGATGGG... |
Task1_train_30409 | A variant on Chromosome X in gene SLC16A2 (solute carrier family 16 member 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Intellectual disability | CTGCTGACCACCCACCCACTGCTCCTGCCCCTTTTCCTTACTCTTACTTCACCGAGTTTTACTTAGAATAATATAAAATAATCTTAGAACATTATAGCTGAAACATATCTTCATCAACTAGTAGTTGAACTTCCTCATTTTACAAATTGAGTGTCTTGGGCCAAGAGCACAAGACAATGGATGAACTTCTTTCTCTTGAGTTTGTTAAGATACTCCATCACAGGAATTTGCCCCCCTTTCTCCCTGCATGTAATGCAGGAGTACAGGCCTAGGGGAGGAAACGAGTGTACACACCTTCAGGTTCTGAAGAGCTATCCACT... | CTGCTGACCACCCACCCACTGCTCCTGCCCCTTTTCCTTACTCTTACTTCACCGAGTTTTACTTAGAATAATATAAAATAATCTTAGAACATTATAGCTGAAACATATCTTCATCAACTAGTAGTTGAACTTCCTCATTTTACAAATTGAGTGTCTTGGGCCAAGAGCACAAGACAATGGATGAACTTCTTTCTCTTGAGTTTGTTAAGATACTCCATCACAGGAATTTGCCCCCCTTTCTCCCTGCATGTAATGCAGGAGTACAGGCCTAGGGGAGGAAACGAGTGTACACACCTTCAGGTTCTGAAGAGCTATCCACT... |
Task1_train_30410 | This variant lies on Chromosome X and affects the gene SLC16A2 (solute carrier family 16 member 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spastic paraplegia | CTGACCACCCACCCACTGCTCCTGCCCCTTTTCCTTACTCTTACTTCACCGAGTTTTACTTAGAATAATATAAAATAATCTTAGAACATTATAGCTGAAACATATCTTCATCAACTAGTAGTTGAACTTCCTCATTTTACAAATTGAGTGTCTTGGGCCAAGAGCACAAGACAATGGATGAACTTCTTTCTCTTGAGTTTGTTAAGATACTCCATCACAGGAATTTGCCCCCCTTTCTCCCTGCATGTAATGCAGGAGTACAGGCCTAGGGGAGGAAACGAGTGTACACACCTTCAGGTTCTGAAGAGCTATCCACTAGA... | CTGACCACCCACCCACTGCTCCTGCCCCTTTTCCTTACTCTTACTTCACCGAGTTTTACTTAGAATAATATAAAATAATCTTAGAACATTATAGCTGAAACATATCTTCATCAACTAGTAGTTGAACTTCCTCATTTTACAAATTGAGTGTCTTGGGCCAAGAGCACAAGACAATGGATGAACTTCTTTCTCTTGAGTTTGTTAAGATACTCCATCACAGGAATTTGCCCCCCTTTCTCCCTGCATGTAATGCAGGAGTACAGGCCTAGGGGAGGAAACGAGTGTACACACCTTCAGGTTCTGAAGAGCTATCCACTAGA... |
Task1_train_30411 | A change on Chromosome X affects gene SLC16A2 (solute carrier family 16 member 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Allan-Herndon-Dudley syndrome | ATAAAATAATCTTAGAACATTATAGCTGAAACATATCTTCATCAACTAGTAGTTGAACTTCCTCATTTTACAAATTGAGTGTCTTGGGCCAAGAGCACAAGACAATGGATGAACTTCTTTCTCTTGAGTTTGTTAAGATACTCCATCACAGGAATTTGCCCCCCTTTCTCCCTGCATGTAATGCAGGAGTACAGGCCTAGGGGAGGAAACGAGTGTACACACCTTCAGGTTCTGAAGAGCTATCCACTAGACTCTGTGGCTCTTAATGTTGGTAAAGACAAGCACATATCTCTGGCTTCAAGCCCCTGGACAGTCTGCTG... | ATAAAATAATCTTAGAACATTATAGCTGAAACATATCTTCATCAACTAGTAGTTGAACTTCCTCATTTTACAAATTGAGTGTCTTGGGCCAAGAGCACAAGACAATGGATGAACTTCTTTCTCTTGAGTTTGTTAAGATACTCCATCACAGGAATTTGCCCCCCTTTCTCCCTGCATGTAATGCAGGAGTACAGGCCTAGGGGAGGAAACGAGTGTACACACCTTCAGGTTCTGAAGAGCTATCCACTAGACTCTGTGGCTCTTAATGTTGGTAAAGACAAGCACATATCTCTGGCTTCAAGCCCCTGGACAGTCTGCTG... |
Task1_train_30412 | Gene SLC16A2 (solute carrier family 16 member 2) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Allan-Herndon-Dudley syndrome | GTTGAACTTCCTCATTTTACAAATTGAGTGTCTTGGGCCAAGAGCACAAGACAATGGATGAACTTCTTTCTCTTGAGTTTGTTAAGATACTCCATCACAGGAATTTGCCCCCCTTTCTCCCTGCATGTAATGCAGGAGTACAGGCCTAGGGGAGGAAACGAGTGTACACACCTTCAGGTTCTGAAGAGCTATCCACTAGACTCTGTGGCTCTTAATGTTGGTAAAGACAAGCACATATCTCTGGCTTCAAGCCCCTGGACAGTCTGCTGGAAAGGAAATAGCGACAGGCTGCAGGACAGCCTCACTTTGTGCCAATTCTT... | GTTGAACTTCCTCATTTTACAAATTGAGTGTCTTGGGCCAAGAGCACAAGACAATGGATGAACTTCTTTCTCTTGAGTTTGTTAAGATACTCCATCACAGGAATTTGCCCCCCTTTCTCCCTGCATGTAATGCAGGAGTACAGGCCTAGGGGAGGAAACGAGTGTACACACCTTCAGGTTCTGAAGAGCTATCCACTAGACTCTGTGGCTCTTAATGTTGGTAAAGACAAGCACATATCTCTGGCTTCAAGCCCCTGGACAGTCTGCTGGAAAGGAAATAGCGACAGGCTGCAGGACAGCCTCACTTTGTGCCAATTCTT... |
Task1_train_30413 | A mutation on Chromosome X affecting SLC16A2 (solute carrier family 16 member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Allan-Herndon-Dudley syndrome | ATGCAGGCCTCACAGGCCATTGGCTACCTCCTGGGCATGATGGCCCTGCCAATGATTGCTGGGCCCCCCATTGCAGGTGAGGCTGATATTCCAGGGAGGGCATGAATCAGGGAGTCCTTTTTTCCCTGGGTACTGGCACTCCTGAGCATCTCTCCTTGAGGCCCCTTTTCCTCTTATCGTCTATTTAAGCAGCTTTGTCAGAGTGCGTGAAACCCCTTATCACTACTGGTGGAAGAGATTAAACACAGTACACACGCATGGATCCATTCTGCGGGATGGATTTTCCATGGTGGTATATCTGTTTCAATAGGATTTTATTT... | ATGCAGGCCTCACAGGCCATTGGCTACCTCCTGGGCATGATGGCCCTGCCAATGATTGCTGGGCCCCCCATTGCAGGTGAGGCTGATATTCCAGGGAGGGCATGAATCAGGGAGTCCTTTTTTCCCTGGGTACTGGCACTCCTGAGCATCTCTCCTTGAGGCCCCTTTTCCTCTTATCGTCTATTTAAGCAGCTTTGTCAGAGTGCGTGAAACCCCTTATCACTACTGGTGGAAGAGATTAAACACAGTACACACGCATGGATCCATTCTGCGGGATGGATTTTCCATGGTGGTATATCTGTTTCAATAGGATTTTATTT... |
Task1_train_30414 | A variant affecting Chromosome X, within the gene RLIM (ring finger protein, LIM domain interacting), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Intellectual disability, X-linked 61 | AAGCTTTGTTTGGACATTATTTCCTTGCAAGAGCAGTACATATCCTTAGTAAACAACTACCATATTTACAAGTTAATTTCCTTGATACTTAGATAGGATTGAAAGCCAGAAGAAATCATGGAAGAGTGAGCTTTGAAATAATCTTTACAGCTAAGTTGGTAACAGTGAAGGTACCCAGACAATTCCTAAAGCAGACTTGTTTATTTTGTAGAGTATTTGACTACGTCTGGGTAGCTAGCTTGCTTTGATAAAGGCCAAGGACAAGTTCAATCCCTATTTTGGCCTGTTAAAGCTTTTCCCAGAAGAACAAATATCTGCTC... | AAGCTTTGTTTGGACATTATTTCCTTGCAAGAGCAGTACATATCCTTAGTAAACAACTACCATATTTACAAGTTAATTTCCTTGATACTTAGATAGGATTGAAAGCCAGAAGAAATCATGGAAGAGTGAGCTTTGAAATAATCTTTACAGCTAAGTTGGTAACAGTGAAGGTACCCAGACAATTCCTAAAGCAGACTTGTTTATTTTGTAGAGTATTTGACTACGTCTGGGTAGCTAGCTTGCTTTGATAAAGGCCAAGGACAAGTTCAATCCCTATTTTGGCCTGTTAAAGCTTTTCCCAGAAGAACAAATATCTGCTC... |
Task1_train_30415 | Given this variant in gene RLIM (ring finger protein, LIM domain interacting) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Intellectual disability, X-linked 61 | GTACATATCCTTAGTAAACAACTACCATATTTACAAGTTAATTTCCTTGATACTTAGATAGGATTGAAAGCCAGAAGAAATCATGGAAGAGTGAGCTTTGAAATAATCTTTACAGCTAAGTTGGTAACAGTGAAGGTACCCAGACAATTCCTAAAGCAGACTTGTTTATTTTGTAGAGTATTTGACTACGTCTGGGTAGCTAGCTTGCTTTGATAAAGGCCAAGGACAAGTTCAATCCCTATTTTGGCCTGTTAAAGCTTTTCCCAGAAGAACAAATATCTGCTCCATAGTCATTCTAATCCTAACCCCAGCTAGTCTCA... | GTACATATCCTTAGTAAACAACTACCATATTTACAAGTTAATTTCCTTGATACTTAGATAGGATTGAAAGCCAGAAGAAATCATGGAAGAGTGAGCTTTGAAATAATCTTTACAGCTAAGTTGGTAACAGTGAAGGTACCCAGACAATTCCTAAAGCAGACTTGTTTATTTTGTAGAGTATTTGACTACGTCTGGGTAGCTAGCTTGCTTTGATAAAGGCCAAGGACAAGTTCAATCCCTATTTTGGCCTGTTAAAGCTTTTCCCAGAAGAACAAATATCTGCTCCATAGTCATTCTAATCCTAACCCCAGCTAGTCTCA... |
Task1_train_30416 | A sequence alteration has been identified in RLIM (ring finger protein, LIM domain interacting) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Intellectual disability, X-linked 61 | CTAAAAGTGGTTTTATAGTCTCTTTCCTCCATTTTTTCATTTTTGAGGAGCAGACTTGTAAATTTAACTTGTGCTAGGTAGTAGTGGTTTGTTTTTCTTAAACCAAAACTCTGCCAAACTTGCTGATCTTCTGCTTCATCTACTCAGGTAGAATACCAGGTCAAGCTGCTGCTGTGGCTGCTCTCACCATATGAAACCAGTTTGTGTCTGCATTATTACTGTCTTCAGGAAAACTTTAAATTCTTCAGTTTTCTTTACTCCTCCCATATTTCACTTCCTGCCTAAATCCAAGTTAAATTATACAATTTCCACTGGTCTTC... | CTAAAAGTGGTTTTATAGTCTCTTTCCTCCATTTTTTCATTTTTGAGGAGCAGACTTGTAAATTTAACTTGTGCTAGGTAGTAGTGGTTTGTTTTTCTTAAACCAAAACTCTGCCAAACTTGCTGATCTTCTGCTTCATCTACTCAGGTAGAATACCAGGTCAAGCTGCTGCTGTGGCTGCTCTCACCATATGAAACCAGTTTGTGTCTGCATTATTACTGTCTTCAGGAAAACTTTAAATTCTTCAGTTTTCTTTACTCCTCCCATATTTCACTTCCTGCCTAAATCCAAGTTAAATTATACAATTTCCACTGGTCTTC... |
Task1_train_30417 | Consider a variant on Chromosome X in gene RLIM (ring finger protein, LIM domain interacting). Determine its clinical classification and disease relevance. | Pathogenic; Global developmental delay | CTCCATTTTTTCATTTTTGAGGAGCAGACTTGTAAATTTAACTTGTGCTAGGTAGTAGTGGTTTGTTTTTCTTAAACCAAAACTCTGCCAAACTTGCTGATCTTCTGCTTCATCTACTCAGGTAGAATACCAGGTCAAGCTGCTGCTGTGGCTGCTCTCACCATATGAAACCAGTTTGTGTCTGCATTATTACTGTCTTCAGGAAAACTTTAAATTCTTCAGTTTTCTTTACTCCTCCCATATTTCACTTCCTGCCTAAATCCAAGTTAAATTATACAATTTCCACTGGTCTTCAACACGGTTTAATTCTGCACTGTCCT... | CTCCATTTTTTCATTTTTGAGGAGCAGACTTGTAAATTTAACTTGTGCTAGGTAGTAGTGGTTTGTTTTTCTTAAACCAAAACTCTGCCAAACTTGCTGATCTTCTGCTTCATCTACTCAGGTAGAATACCAGGTCAAGCTGCTGCTGTGGCTGCTCTCACCATATGAAACCAGTTTGTGTCTGCATTATTACTGTCTTCAGGAAAACTTTAAATTCTTCAGTTTTCTTTACTCCTCCCATATTTCACTTCCTGCCTAAATCCAAGTTAAATTATACAATTTCCACTGGTCTTCAACACGGTTTAATTCTGCACTGTCCT... |
Task1_train_30418 | A change on Chromosome X affects gene ABCB7 (ATP binding cassette subfamily B member 7). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; X-linked sideroblastic anemia with ataxia | TTCTTAACTTCTCAGACCTTACTTTGAATTTATTTTCCCTCCAAAGTAACACAGTAAGTGTTTATTAAATGTTTAACATGGGTTCGGCACTGTGTTTCGTACTGAGGGCAGAGTGGTTAACAAGGCATACAAAATTGAGGATGGCAGACAAGCTACTTTGTAATTATTATAAATCTACTATGTTGAAAACTGCTCCAAATTACAATAGTAGTTTCCGTTTTCTGAACAATTATGTGATAGACTCGGTATTTTATATTTATTATCTCTAATCCACAATAATTCTATCCTATAAGATAAATGGCATCCTTATTTTACAGATA... | TTCTTAACTTCTCAGACCTTACTTTGAATTTATTTTCCCTCCAAAGTAACACAGTAAGTGTTTATTAAATGTTTAACATGGGTTCGGCACTGTGTTTCGTACTGAGGGCAGAGTGGTTAACAAGGCATACAAAATTGAGGATGGCAGACAAGCTACTTTGTAATTATTATAAATCTACTATGTTGAAAACTGCTCCAAATTACAATAGTAGTTTCCGTTTTCTGAACAATTATGTGATAGACTCGGTATTTTATATTTATTATCTCTAATCCACAATAATTCTATCCTATAAGATAAATGGCATCCTTATTTTACAGATA... |
Task1_train_30419 | This mutation is located in gene ABCB7 (ATP binding cassette subfamily B member 7) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; X-linked sideroblastic anemia with ataxia | AAATGTTTAACATGGGTTCGGCACTGTGTTTCGTACTGAGGGCAGAGTGGTTAACAAGGCATACAAAATTGAGGATGGCAGACAAGCTACTTTGTAATTATTATAAATCTACTATGTTGAAAACTGCTCCAAATTACAATAGTAGTTTCCGTTTTCTGAACAATTATGTGATAGACTCGGTATTTTATATTTATTATCTCTAATCCACAATAATTCTATCCTATAAGATAAATGGCATCCTTATTTTACAGATAAGAAAATGGAGGCCCCAGGCCACACAACTAATGACAATTAGAGATGGGGTTAGAATCCAGGTCTGT... | AAATGTTTAACATGGGTTCGGCACTGTGTTTCGTACTGAGGGCAGAGTGGTTAACAAGGCATACAAAATTGAGGATGGCAGACAAGCTACTTTGTAATTATTATAAATCTACTATGTTGAAAACTGCTCCAAATTACAATAGTAGTTTCCGTTTTCTGAACAATTATGTGATAGACTCGGTATTTTATATTTATTATCTCTAATCCACAATAATTCTATCCTATAAGATAAATGGCATCCTTATTTTACAGATAAGAAAATGGAGGCCCCAGGCCACACAACTAATGACAATTAGAGATGGGGTTAGAATCCAGGTCTGT... |
Task1_train_30420 | Here’s a variant in ABCB7 (ATP binding cassette subfamily B member 7) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GAAAAAAAAAGCCACTTTACGCACTGCCTAGAGTACAGCTACGAAGACAATTTTCTAATTCACAGAAAGAAAAAGGATATAATGGAAAAGAAGGAGGTTTATAAGTGGACTTAGACCACTTCCAAGCATGCATTTAAAGATTTGTTTTCTCACGCTTCATGGCTAAGGTAAAACAAACCCTGAATGTTTTGGTTTCTGAGCAACTTTTTTTTGAGGTGGGGTTGGGGAGGGAGAAGGGATAATGGGCAGGGGAGGAAAGGGGCTGAGGATGCAAGGAGAGGCAATCATATATTCCATGTCATTATTAGATAAGTAAATTC... | GAAAAAAAAAGCCACTTTACGCACTGCCTAGAGTACAGCTACGAAGACAATTTTCTAATTCACAGAAAGAAAAAGGATATAATGGAAAAGAAGGAGGTTTATAAGTGGACTTAGACCACTTCCAAGCATGCATTTAAAGATTTGTTTTCTCACGCTTCATGGCTAAGGTAAAACAAACCCTGAATGTTTTGGTTTCTGAGCAACTTTTTTTTGAGGTGGGGTTGGGGAGGGAGAAGGGATAATGGGCAGGGGAGGAAAGGGGCTGAGGATGCAAGGAGAGGCAATCATATATTCCATGTCATTATTAGATAAGTAAATTC... |
Task1_train_30421 | A variant was discovered on Chromosome X, affecting ATRX (ATRX chromatin remodeler). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability-hypotonic facies syndrome, X-linked | AATTGCTGGGTTACGGTTTGGCATTATCCATCCATTTTACCAGTATTTTACTATTGCAAATCAATTTATAAGAAGGAACAATTAAAAATTTAAAAAAATGGCAGTAGGGGGTGGAGGGTACAAATTGGAGGTTGGAATAAGACAATTGCCAATTAGCTTACTACAGCTGAAATTATATCCTCAAGAGGTTGAATCCTCACTGCTGTCACACTGTTTGTTGCTTCTACAACTTTTTCTCTTCCTTGATTAATGAGGTCCTAGAAGAATGCAAGAAATAAGTTATATAAGGCAGAAAGACAGCATAGTGTTAAAGTATAGGG... | AATTGCTGGGTTACGGTTTGGCATTATCCATCCATTTTACCAGTATTTTACTATTGCAAATCAATTTATAAGAAGGAACAATTAAAAATTTAAAAAAATGGCAGTAGGGGGTGGAGGGTACAAATTGGAGGTTGGAATAAGACAATTGCCAATTAGCTTACTACAGCTGAAATTATATCCTCAAGAGGTTGAATCCTCACTGCTGTCACACTGTTTGTTGCTTCTACAACTTTTTCTCTTCCTTGATTAATGAGGTCCTAGAAGAATGCAAGAAATAAGTTATATAAGGCAGAAAGACAGCATAGTGTTAAAGTATAGGG... |
Task1_train_30422 | A mutation found in ATRX (ATRX chromatin remodeler) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | CTGGAAACCATCATCCTCAGCAAACTAACACAAGAACAGAAAACCAAACACTGCATGTTCTCACTCATAAGTGGCAGTTGAACAATGAGAACATATGGACATGGGGAGGGTTACATCACCCACTGGGGCCTGTCAGGGGGTGGGGGGAAAGGGGAGGGAGAACATTAGGACAAATACCTAATGTATGCAGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAAACTGCATGTTCAGCACACGTATAACAGAACTTAAAGTAAAAAAGAAAAAAGAACAAAAAA... | CTGGAAACCATCATCCTCAGCAAACTAACACAAGAACAGAAAACCAAACACTGCATGTTCTCACTCATAAGTGGCAGTTGAACAATGAGAACATATGGACATGGGGAGGGTTACATCACCCACTGGGGCCTGTCAGGGGGTGGGGGGAAAGGGGAGGGAGAACATTAGGACAAATACCTAATGTATGCAGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAAACTGCATGTTCAGCACACGTATAACAGAACTTAAAGTAAAAAAGAAAAAAGAACAAAAAA... |
Task1_train_30423 | This variant affects gene ATRX (ATRX chromatin remodeler) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Intellectual disability-hypotonic facies syndrome, X-linked, 1 | CTGGAAACCATCATCCTCAGCAAACTAACACAAGAACAGAAAACCAAACACTGCATGTTCTCACTCATAAGTGGCAGTTGAACAATGAGAACATATGGACATGGGGAGGGTTACATCACCCACTGGGGCCTGTCAGGGGGTGGGGGGAAAGGGGAGGGAGAACATTAGGACAAATACCTAATGTATGCAGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAAACTGCATGTTCAGCACACGTATAACAGAACTTAAAGTAAAAAAGAAAAAAGAACAAAAAA... | CTGGAAACCATCATCCTCAGCAAACTAACACAAGAACAGAAAACCAAACACTGCATGTTCTCACTCATAAGTGGCAGTTGAACAATGAGAACATATGGACATGGGGAGGGTTACATCACCCACTGGGGCCTGTCAGGGGGTGGGGGGAAAGGGGAGGGAGAACATTAGGACAAATACCTAATGTATGCAGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGCAAACCACCATGGCACATGTATACCTATGTAACAAACTGCATGTTCAGCACACGTATAACAGAACTTAAAGTAAAAAAGAAAAAAGAACAAAAAA... |
Task1_train_30424 | Consider this mutation in ATRX (ATRX chromatin remodeler) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | CATCTTAACAGTTATATCACACAATATTACTGACTGTGAAAGCATTCTATATTTTAAAGTCCAGATTTATTTAAACTAAAATAAAGCATCCTAAATGTCATTCAATTCTGGAAATCCCAGGTCCTCTGCTTTGCTTCTTGTATTTGAAAATAACTTTCTAATCTCCATTTGGAGGACAAAAAATTATAATGATTAAGAGTAATGCTTTTGAGTTGGTCAGATATGATTTGAAGACCAGCTTTACAATATGGTGTGTAAACTTGGGTAAGTTACCTAGCCTCTCTGAACCTCAGTTTCCTCATCTTGAAAATGAAAACAGG... | CATCTTAACAGTTATATCACACAATATTACTGACTGTGAAAGCATTCTATATTTTAAAGTCCAGATTTATTTAAACTAAAATAAAGCATCCTAAATGTCATTCAATTCTGGAAATCCCAGGTCCTCTGCTTTGCTTCTTGTATTTGAAAATAACTTTCTAATCTCCATTTGGAGGACAAAAAATTATAATGATTAAGAGTAATGCTTTTGAGTTGGTCAGATATGATTTGAAGACCAGCTTTACAATATGGTGTGTAAACTTGGGTAAGTTACCTAGCCTCTCTGAACCTCAGTTTCCTCATCTTGAAAATGAAAACAGG... |
Task1_train_30425 | Gene ATRX (ATRX chromatin remodeler) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | GTCATTCAATTCTGGAAATCCCAGGTCCTCTGCTTTGCTTCTTGTATTTGAAAATAACTTTCTAATCTCCATTTGGAGGACAAAAAATTATAATGATTAAGAGTAATGCTTTTGAGTTGGTCAGATATGATTTGAAGACCAGCTTTACAATATGGTGTGTAAACTTGGGTAAGTTACCTAGCCTCTCTGAACCTCAGTTTCCTCATCTTGAAAATGAAAACAGGACTATCTGCTTTTCAGCTGCTGGATTGAGGGAGATAATCTGAACAATGTCTTGTTTTTCTTAGTATTCTCTCACAGTATACCTCTCAAAGTCAGCA... | GTCATTCAATTCTGGAAATCCCAGGTCCTCTGCTTTGCTTCTTGTATTTGAAAATAACTTTCTAATCTCCATTTGGAGGACAAAAAATTATAATGATTAAGAGTAATGCTTTTGAGTTGGTCAGATATGATTTGAAGACCAGCTTTACAATATGGTGTGTAAACTTGGGTAAGTTACCTAGCCTCTCTGAACCTCAGTTTCCTCATCTTGAAAATGAAAACAGGACTATCTGCTTTTCAGCTGCTGGATTGAGGGAGATAATCTGAACAATGTCTTGTTTTTCTTAGTATTCTCTCACAGTATACCTCTCAAAGTCAGCA... |
Task1_train_30426 | This variant lies on Chromosome X and affects the gene ATRX (ATRX chromatin remodeler). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Intellectual disability-hypotonic facies syndrome, X-linked, 1 | GTCATTCAATTCTGGAAATCCCAGGTCCTCTGCTTTGCTTCTTGTATTTGAAAATAACTTTCTAATCTCCATTTGGAGGACAAAAAATTATAATGATTAAGAGTAATGCTTTTGAGTTGGTCAGATATGATTTGAAGACCAGCTTTACAATATGGTGTGTAAACTTGGGTAAGTTACCTAGCCTCTCTGAACCTCAGTTTCCTCATCTTGAAAATGAAAACAGGACTATCTGCTTTTCAGCTGCTGGATTGAGGGAGATAATCTGAACAATGTCTTGTTTTTCTTAGTATTCTCTCACAGTATACCTCTCAAAGTCAGCA... | GTCATTCAATTCTGGAAATCCCAGGTCCTCTGCTTTGCTTCTTGTATTTGAAAATAACTTTCTAATCTCCATTTGGAGGACAAAAAATTATAATGATTAAGAGTAATGCTTTTGAGTTGGTCAGATATGATTTGAAGACCAGCTTTACAATATGGTGTGTAAACTTGGGTAAGTTACCTAGCCTCTCTGAACCTCAGTTTCCTCATCTTGAAAATGAAAACAGGACTATCTGCTTTTCAGCTGCTGGATTGAGGGAGATAATCTGAACAATGTCTTGTTTTTCTTAGTATTCTCTCACAGTATACCTCTCAAAGTCAGCA... |
Task1_train_30427 | This mutation is located in gene ATRX (ATRX chromatin remodeler) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; ATRX-related disorder | GTCATTCAATTCTGGAAATCCCAGGTCCTCTGCTTTGCTTCTTGTATTTGAAAATAACTTTCTAATCTCCATTTGGAGGACAAAAAATTATAATGATTAAGAGTAATGCTTTTGAGTTGGTCAGATATGATTTGAAGACCAGCTTTACAATATGGTGTGTAAACTTGGGTAAGTTACCTAGCCTCTCTGAACCTCAGTTTCCTCATCTTGAAAATGAAAACAGGACTATCTGCTTTTCAGCTGCTGGATTGAGGGAGATAATCTGAACAATGTCTTGTTTTTCTTAGTATTCTCTCACAGTATACCTCTCAAAGTCAGCA... | GTCATTCAATTCTGGAAATCCCAGGTCCTCTGCTTTGCTTCTTGTATTTGAAAATAACTTTCTAATCTCCATTTGGAGGACAAAAAATTATAATGATTAAGAGTAATGCTTTTGAGTTGGTCAGATATGATTTGAAGACCAGCTTTACAATATGGTGTGTAAACTTGGGTAAGTTACCTAGCCTCTCTGAACCTCAGTTTCCTCATCTTGAAAATGAAAACAGGACTATCTGCTTTTCAGCTGCTGGATTGAGGGAGATAATCTGAACAATGTCTTGTTTTTCTTAGTATTCTCTCACAGTATACCTCTCAAAGTCAGCA... |
Task1_train_30428 | Consider a variant on Chromosome X in gene ATRX (ATRX chromatin remodeler). Determine its clinical classification and disease relevance. | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | GAAGAAAATGCTCATTGGGGCATTTTGGATTTAGATTTTCAGATTTGGTATGCTCAACAGGTAAGAATATAATACAAATATTCAAAAATCTGAAAAAAATCCCATATCTGAAATTCTTCGGGTCCCTAGCACCCCCAAGCATTTTGGATAAGAAATACTCAACCAGTATATGCCTGAAGCATGAATTTGAATGACATGCTTTTTGGCATATGTTTAGGGGTAATTCACTAGTGAGTAAGCCAAGCTGACAGCTCAACATCTACATTTCAATGTTTTTCCCTACTAGTCATCAAGTATAAATGTCACGTGACAGATTATAT... | GAAGAAAATGCTCATTGGGGCATTTTGGATTTAGATTTTCAGATTTGGTATGCTCAACAGGTAAGAATATAATACAAATATTCAAAAATCTGAAAAAAATCCCATATCTGAAATTCTTCGGGTCCCTAGCACCCCCAAGCATTTTGGATAAGAAATACTCAACCAGTATATGCCTGAAGCATGAATTTGAATGACATGCTTTTTGGCATATGTTTAGGGGTAATTCACTAGTGAGTAAGCCAAGCTGACAGCTCAACATCTACATTTCAATGTTTTTCCCTACTAGTCATCAAGTATAAATGTCACGTGACAGATTATAT... |
Task1_train_30429 | Gene ATRX (ATRX chromatin remodeler) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | GGCAGTACTTCCTAAAATTAACTATACATTCAACACAATCCCTATTAGCATCTAAGCTGACTTCTTTGTAGAAATTTATAGGAGATTCTAAGGTTGATGTTGAATTCCAAGAGATCTGGAATAGCCACACTTTCCAATTTCAACATCACTTTCAAAGCAATGGTAATGAAATAGTGCAGTATTAGCACAGCGACTGACATATAGATCAATGGAATAGAATTGAGGGTCAGGAAACAAACATGTGTCTCCATCATCAATTCCTTTTTAATAAGAGTGACAAAAACTATTCAATAAAGAAAGAATATTCTTTTCAACAAACA... | GGCAGTACTTCCTAAAATTAACTATACATTCAACACAATCCCTATTAGCATCTAAGCTGACTTCTTTGTAGAAATTTATAGGAGATTCTAAGGTTGATGTTGAATTCCAAGAGATCTGGAATAGCCACACTTTCCAATTTCAACATCACTTTCAAAGCAATGGTAATGAAATAGTGCAGTATTAGCACAGCGACTGACATATAGATCAATGGAATAGAATTGAGGGTCAGGAAACAAACATGTGTCTCCATCATCAATTCCTTTTTAATAAGAGTGACAAAAACTATTCAATAAAGAAAGAATATTCTTTTCAACAAACA... |
Task1_train_30430 | This variant impacts the gene ATRX (ATRX chromatin remodeler) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | TGGTAAGAAAATGAATTGACTCCTGGTGCTCAGCTCAAATGACCAAGGCCTATGCTTTGACCCCTCAGTAGTTTATCTTTCCCAAAATCAAAAACATAATTGAATCAATTCTTTCTGTGCTACAAATTAAGTTCTTGAAAGTTCCCGTAAGTGAAAAAATTAAAGTCTTAGAAATACTAATTATTAAATTGGAATTAATCTGCAATCTGGGTTACTATACTGGAAAGAGGTTGATTTTAGTCAGTTAGCAATTAAGGCTGGTTCTGGGAACCACTGAACTCAGAGAAGTCTTACAGTAGAAAAGGAAAAAAGTTGTTAGG... | TGGTAAGAAAATGAATTGACTCCTGGTGCTCAGCTCAAATGACCAAGGCCTATGCTTTGACCCCTCAGTAGTTTATCTTTCCCAAAATCAAAAACATAATTGAATCAATTCTTTCTGTGCTACAAATTAAGTTCTTGAAAGTTCCCGTAAGTGAAAAAATTAAAGTCTTAGAAATACTAATTATTAAATTGGAATTAATCTGCAATCTGGGTTACTATACTGGAAAGAGGTTGATTTTAGTCAGTTAGCAATTAAGGCTGGTTCTGGGAACCACTGAACTCAGAGAAGTCTTACAGTAGAAAAGGAAAAAAGTTGTTAGG... |
Task1_train_30431 | Here’s a variant in ATRX (ATRX chromatin remodeler) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | GCTCCTCTCTTAATTCATACTGGCCTCTCCTATAACCATTTCAAAAAAGTGAGATTTATAATACTGTACTACAGAATTAGGGTGAGCATAGGAACTTCATCATAGTAGCTATGTTCCTCTTAAGGAACTCCCTATCTTAAGGATGAAAAATCTAAACATTAACATAATAAGATATGAGGCTTTACACCTGGCAAATGAATCAACTATGTTTTAAACTCAGCGGAACTTCTTTTTTAAAAGTTGAATGCAGCAGAAATTTTTTAAGACAACGCAAGGAGATATAACTGTAAAACTATCTACTGAAAGAGCGGGAAAGAAAA... | GCTCCTCTCTTAATTCATACTGGCCTCTCCTATAACCATTTCAAAAAAGTGAGATTTATAATACTGTACTACAGAATTAGGGTGAGCATAGGAACTTCATCATAGTAGCTATGTTCCTCTTAAGGAACTCCCTATCTTAAGGATGAAAAATCTAAACATTAACATAATAAGATATGAGGCTTTACACCTGGCAAATGAATCAACTATGTTTTAAACTCAGCGGAACTTCTTTTTTAAAAGTTGAATGCAGCAGAAATTTTTTAAGACAACGCAAGGAGATATAACTGTAAAACTATCTACTGAAAGAGCGGGAAAGAAAA... |
Task1_train_30432 | This variant impacts the gene ATRX (ATRX chromatin remodeler) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Intellectual disability-hypotonic facies syndrome, X-linked | TAAAAAAAGCTCCCAATGGTCAAAGTGAAACAATTTGAGCAAAAAAAAAAAAAAAATGCAGTAATGGTTTATAGTCCAATGCACGAACTAAAAATAGATGAGTATATAATTATATAAATCAAAGGCTAAATAAATGGGTAAGAAAAGATAATTTTTTCTTTAAAAAAATCCAAATTTTATGTGTAGATATTACCCACTATAGGAGATACAGCTTAATTTCCACCATCCTCCCATTCAGGTGGGCTAGATTGAGTGACTGGATTCCAATGAACAGATGAGGGACAGGTAAAAGTAGCAGCTCTACAGGAGAGAAACCTGAC... | TAAAAAAAGCTCCCAATGGTCAAAGTGAAACAATTTGAGCAAAAAAAAAAAAAAAATGCAGTAATGGTTTATAGTCCAATGCACGAACTAAAAATAGATGAGTATATAATTATATAAATCAAAGGCTAAATAAATGGGTAAGAAAAGATAATTTTTTCTTTAAAAAAATCCAAATTTTATGTGTAGATATTACCCACTATAGGAGATACAGCTTAATTTCCACCATCCTCCCATTCAGGTGGGCTAGATTGAGTGACTGGATTCCAATGAACAGATGAGGGACAGGTAAAAGTAGCAGCTCTACAGGAGAGAAACCTGAC... |
Task1_train_30433 | The gene ATRX (ATRX chromatin remodeler) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | AATAGATGAGTATATAATTATATAAATCAAAGGCTAAATAAATGGGTAAGAAAAGATAATTTTTTCTTTAAAAAAATCCAAATTTTATGTGTAGATATTACCCACTATAGGAGATACAGCTTAATTTCCACCATCCTCCCATTCAGGTGGGCTAGATTGAGTGACTGGATTCCAATGAACAGATGAGGGACAGGTAAAAGTAGCAGCTCTACAGGAGAGAAACCTGACAAACTCTACCCTAGCCAAGTGATGAAAGTTAACATCATCAGTAACAGCAAGTGCTTATCATGTACCCCCGATATGAGATATGATGTGACAAA... | AATAGATGAGTATATAATTATATAAATCAAAGGCTAAATAAATGGGTAAGAAAAGATAATTTTTTCTTTAAAAAAATCCAAATTTTATGTGTAGATATTACCCACTATAGGAGATACAGCTTAATTTCCACCATCCTCCCATTCAGGTGGGCTAGATTGAGTGACTGGATTCCAATGAACAGATGAGGGACAGGTAAAAGTAGCAGCTCTACAGGAGAGAAACCTGACAAACTCTACCCTAGCCAAGTGATGAAAGTTAACATCATCAGTAACAGCAAGTGCTTATCATGTACCCCCGATATGAGATATGATGTGACAAA... |
Task1_train_30434 | Gene ATRX (ATRX chromatin remodeler) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | AACAGCAAGTGCTTATCATGTACCCCCGATATGAGATATGATGTGACAAAAAGGGTATGTCACCTCTGGTATATTCTTTCAAAACCTCAGTCTAATCTCAGTCTAATCACAAGAAAAACTATAAATTCAGATCAGAGAACACTCTACAGGATATCTACCTGGACGGTCCTCCTTAAGACTGATGAGATAATGAAAAAATAAAGATTGAGAAACCGTCATAGACCAGAAGACTGTTAGAGACATGACAGCTAAATACAATGTAGAACCCTGGATAGAAAAACTGGTGCAATACAAATGCAGTTTGAAGTTATTAATAATAA... | AACAGCAAGTGCTTATCATGTACCCCCGATATGAGATATGATGTGACAAAAAGGGTATGTCACCTCTGGTATATTCTTTCAAAACCTCAGTCTAATCTCAGTCTAATCACAAGAAAAACTATAAATTCAGATCAGAGAACACTCTACAGGATATCTACCTGGACGGTCCTCCTTAAGACTGATGAGATAATGAAAAAATAAAGATTGAGAAACCGTCATAGACCAGAAGACTGTTAGAGACATGACAGCTAAATACAATGTAGAACCCTGGATAGAAAAACTGGTGCAATACAAATGCAGTTTGAAGTTATTAATAATAA... |
Task1_train_30435 | Here is a genetic alteration in ATRX (ATRX chromatin remodeler) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | CTCAGTCTAATCTCAGTCTAATCACAAGAAAAACTATAAATTCAGATCAGAGAACACTCTACAGGATATCTACCTGGACGGTCCTCCTTAAGACTGATGAGATAATGAAAAAATAAAGATTGAGAAACCGTCATAGACCAGAAGACTGTTAGAGACATGACAGCTAAATACAATGTAGAACCCTGGATAGAAAAACTGGTGCAATACAAATGCAGTTTGAAGTTATTAATAATAATGTGTCAATTTCTTAGTTTTGACAAATCTACCATGGCAATGTAAGATGTTAACAATTGAGGAACCAGATGTAGGGTATATGGGAA... | CTCAGTCTAATCTCAGTCTAATCACAAGAAAAACTATAAATTCAGATCAGAGAACACTCTACAGGATATCTACCTGGACGGTCCTCCTTAAGACTGATGAGATAATGAAAAAATAAAGATTGAGAAACCGTCATAGACCAGAAGACTGTTAGAGACATGACAGCTAAATACAATGTAGAACCCTGGATAGAAAAACTGGTGCAATACAAATGCAGTTTGAAGTTATTAATAATAATGTGTCAATTTCTTAGTTTTGACAAATCTACCATGGCAATGTAAGATGTTAACAATTGAGGAACCAGATGTAGGGTATATGGGAA... |
Task1_train_30436 | The variant affects gene ATRX (ATRX chromatin remodeler), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | AAGAAAAACTATAAATTCAGATCAGAGAACACTCTACAGGATATCTACCTGGACGGTCCTCCTTAAGACTGATGAGATAATGAAAAAATAAAGATTGAGAAACCGTCATAGACCAGAAGACTGTTAGAGACATGACAGCTAAATACAATGTAGAACCCTGGATAGAAAAACTGGTGCAATACAAATGCAGTTTGAAGTTATTAATAATAATGTGTCAATTTCTTAGTTTTGACAAATCTACCATGGCAATGTAAGATGTTAACAATTGAGGAACCAGATGTAGGGTATATGGGAACTCTCTGCACTACCTTTTCAACTTT... | AAGAAAAACTATAAATTCAGATCAGAGAACACTCTACAGGATATCTACCTGGACGGTCCTCCTTAAGACTGATGAGATAATGAAAAAATAAAGATTGAGAAACCGTCATAGACCAGAAGACTGTTAGAGACATGACAGCTAAATACAATGTAGAACCCTGGATAGAAAAACTGGTGCAATACAAATGCAGTTTGAAGTTATTAATAATAATGTGTCAATTTCTTAGTTTTGACAAATCTACCATGGCAATGTAAGATGTTAACAATTGAGGAACCAGATGTAGGGTATATGGGAACTCTCTGCACTACCTTTTCAACTTT... |
Task1_train_30437 | A sequence alteration has been identified in ATRX (ATRX chromatin remodeler) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Intellectual disability-hypotonic facies syndrome, X-linked | TCTTCTCTCTACCATATGCTCCATTCTTACTCTTTTTATCCTCTGAAGAGTCACAACTATCTCCTTTCCCTGTTGACTTCTCAGCATAATCAGATAATTCATCCTTCTTTTTAGAAGTTTTATCTCTTATTTTTTTACTTTTCTTTTCTCCATCAGTTGTTCCATTCTTAATTTGTTTTATGCCCTTAGGAAAATGACAAATTTCTTCTCGCTCAGGTAACTTTTCAGTGCCATCAGATGAAGATTCATACTGTTGTTCCATTTTAATTACTTTTTTCTTAAAGTCTGAAGGTTTCTTTTTTTCTTCAGTTCCCTTTTTG... | TCTTCTCTCTACCATATGCTCCATTCTTACTCTTTTTATCCTCTGAAGAGTCACAACTATCTCCTTTCCCTGTTGACTTCTCAGCATAATCAGATAATTCATCCTTCTTTTTAGAAGTTTTATCTCTTATTTTTTTACTTTTCTTTTCTCCATCAGTTGTTCCATTCTTAATTTGTTTTATGCCCTTAGGAAAATGACAAATTTCTTCTCGCTCAGGTAACTTTTCAGTGCCATCAGATGAAGATTCATACTGTTGTTCCATTTTAATTACTTTTTTCTTAAAGTCTGAAGGTTTCTTTTTTTCTTCAGTTCCCTTTTTG... |
Task1_train_30438 | A genomic change on Chromosome X affects ATRX (ATRX chromatin remodeler). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Intellectual disability-hypotonic facies syndrome, X-linked, 1 | TTTTGGTTTTGAGATGCTTGCTCTTTTCTTTAGTTTCAGCAACTTTTCTAACTTCCAAAGAAGTAAAACTCTCCTCTTTCCCAGAAAGCTTATCGACACCATCAGTGGAAGCACTTGCTTGCTGCTTCTTAGGAAGTCGATCTCTTAATTCCATGATGGTCGTGTCTTTATCAACTGTGCCTTCTGCTGAAGAGAAAGTCTCTCTCTCTTGTTTTCTTTCAGCATCATCAGATGATCCTTCTTGTGAGGTCTTCAAATTTTTGTGCCCTTGATTATCCATTCCTTTTTTGCTGTGTTTCTCATCTTCAGAAGAGTCAAAA... | TTTTGGTTTTGAGATGCTTGCTCTTTTCTTTAGTTTCAGCAACTTTTCTAACTTCCAAAGAAGTAAAACTCTCCTCTTTCCCAGAAAGCTTATCGACACCATCAGTGGAAGCACTTGCTTGCTGCTTCTTAGGAAGTCGATCTCTTAATTCCATGATGGTCGTGTCTTTATCAACTGTGCCTTCTGCTGAAGAGAAAGTCTCTCTCTCTTGTTTTCTTTCAGCATCATCAGATGATCCTTCTTGTGAGGTCTTCAAATTTTTGTGCCCTTGATTATCCATTCCTTTTTTGCTGTGTTTCTCATCTTCAGAAGAGTCAAAA... |
Task1_train_30439 | Gene ATRX (ATRX chromatin remodeler) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Alpha thalassemia-X-linked intellectual disability syndrome | AGAAGTAAAACTCTCCTCTTTCCCAGAAAGCTTATCGACACCATCAGTGGAAGCACTTGCTTGCTGCTTCTTAGGAAGTCGATCTCTTAATTCCATGATGGTCGTGTCTTTATCAACTGTGCCTTCTGCTGAAGAGAAAGTCTCTCTCTCTTGTTTTCTTTCAGCATCATCAGATGATCCTTCTTGTGAGGTCTTCAAATTTTTGTGCCCTTGATTATCCATTCCTTTTTTGCTGTGTTTCTCATCTTCAGAAGAGTCAAAATCTTTTGTATTTGGAATTCTTTTTTTGGTGGTTCTGGCAGCACCAATTTTACTCATGC... | AGAAGTAAAACTCTCCTCTTTCCCAGAAAGCTTATCGACACCATCAGTGGAAGCACTTGCTTGCTGCTTCTTAGGAAGTCGATCTCTTAATTCCATGATGGTCGTGTCTTTATCAACTGTGCCTTCTGCTGAAGAGAAAGTCTCTCTCTCTTGTTTTCTTTCAGCATCATCAGATGATCCTTCTTGTGAGGTCTTCAAATTTTTGTGCCCTTGATTATCCATTCCTTTTTTGCTGTGTTTCTCATCTTCAGAAGAGTCAAAATCTTTTGTATTTGGAATTCTTTTTTTGGTGGTTCTGGCAGCACCAATTTTACTCATGC... |
Task1_train_30440 | The gene ATRX (ATRX chromatin remodeler) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TTAAATCATACAAAGTCTTATGGTTTGTATGAATTTCATTAATATCAGTATCTGAAGAAGAACTGTGACTCATCCTGCTCACCTCTTTGAGGATTGCTAGCATTTCATCAGAATCTGAATTTTGATCCACAGTCTCTGATTGCTTAGATTTTGGCAATTTATTAGGCTTAGGATTATCTATAGCACTGTCAGAAGAATTACGCTTATCCTTTTTTCTCACTGGAACTGATAGTTTTTGTTTCTCCTTAACTGTTTCATTACATTCTTCATCTGAATTAGATGTTACAGGGTTAGTTTCTGTCGGTCGCCTCAAGGGTGTA... | TTAAATCATACAAAGTCTTATGGTTTGTATGAATTTCATTAATATCAGTATCTGAAGAAGAACTGTGACTCATCCTGCTCACCTCTTTGAGGATTGCTAGCATTTCATCAGAATCTGAATTTTGATCCACAGTCTCTGATTGCTTAGATTTTGGCAATTTATTAGGCTTAGGATTATCTATAGCACTGTCAGAAGAATTACGCTTATCCTTTTTTCTCACTGGAACTGATAGTTTTTGTTTCTCCTTAACTGTTTCATTACATTCTTCATCTGAATTAGATGTTACAGGGTTAGTTTCTGTCGGTCGCCTCAAGGGTGTA... |
Task1_train_30441 | The gene ATRX (ATRX chromatin remodeler), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TTAAAAGTGTATAAAAGATTTTTGGCTGGGTGTTTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTAGTGGACACCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGACCCAGGAGGTGGACGTTGTCGTGAGCCAAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAA... | TTAAAAGTGTATAAAAGATTTTTGGCTGGGTGTTTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAGGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTAGTGGACACCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGACCCAGGAGGTGGACGTTGTCGTGAGCCAAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAA... |
Task1_train_30442 | A variant has been detected on Chromosome X in MAGT1 (magnesium transporter 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital disorder of glycosylation | AAGAATGAATTCCTAATGTAGTTATCTGTAACAGGCATATGTGGGAACACCTGGTCAGGACTTACTTTCCCCATCTTTGGATAAGGCAATATAAAATCAGATGACCAAGTTAACTAAAGTAGTTTTGAGCTTTGTTCTAACTAAAACAAAGTAGTAGTTTTACAATTTTTATAATATACTTAATTGTACTAAATTAAATGTTCCATAAAGTTCACTGGGAAGAGAAGGTTAAGAGGATAATTATTTTCAAATACCTCAGATTTTGACAGAGGATTGCTTGTTAAGGCACTACACATCTTCTTTGGTTAAATGATTAACTA... | AAGAATGAATTCCTAATGTAGTTATCTGTAACAGGCATATGTGGGAACACCTGGTCAGGACTTACTTTCCCCATCTTTGGATAAGGCAATATAAAATCAGATGACCAAGTTAACTAAAGTAGTTTTGAGCTTTGTTCTAACTAAAACAAAGTAGTAGTTTTACAATTTTTATAATATACTTAATTGTACTAAATTAAATGTTCCATAAAGTTCACTGGGAAGAGAAGGTTAAGAGGATAATTATTTTCAAATACCTCAGATTTTGACAGAGGATTGCTTGTTAAGGCACTACACATCTTCTTTGGTTAAATGATTAACTA... |
Task1_train_30443 | An alteration has been detected in ATP7A (ATPase copper transporting alpha) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Menkes kinky-hair syndrome | ATCCTATACTGCTCCGTGGCCCTGGCAACCAACAAAGCACATATTAAATATGACCCAGAAATTATTGGTCCTAGAGATATTATCCATACAATTGAAGTAAGTGCCAAGAATTTATGTTTCTGTGTTCTTACCTATTTAATCAGCACTCCCGTGAATCATTTCTGGTTTGCATCAGATAGAGGCAATGAAAAAAAATCTAACTCCTTTGAACACTTCAAACAAGATCTGTCTCAAAATTTAATGTAAACGTGTCTGCATTTTTTTTTTTGGTCTTTTTCAGGAAAAGTTAGGCAAAGGTACATTTACACTATTAATCAGGA... | ATCCTATACTGCTCCGTGGCCCTGGCAACCAACAAAGCACATATTAAATATGACCCAGAAATTATTGGTCCTAGAGATATTATCCATACAATTGAAGTAAGTGCCAAGAATTTATGTTTCTGTGTTCTTACCTATTTAATCAGCACTCCCGTGAATCATTTCTGGTTTGCATCAGATAGAGGCAATGAAAAAAAATCTAACTCCTTTGAACACTTCAAACAAGATCTGTCTCAAAATTTAATGTAAACGTGTCTGCATTTTTTTTTTTGGTCTTTTTCAGGAAAAGTTAGGCAAAGGTACATTTACACTATTAATCAGGA... |
Task1_train_30444 | Mutation context: Chromosome X, Gene ATP7A (ATPase copper transporting alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Menkes kinky-hair syndrome | AAAGTTAGGCAAAGGTACATTTACACTATTAATCAGGAGCAAACAAGTTAGAACCACAAAACACTTAAAATATTTAGAAAATGGAAATAAAGTATAATTTGTTATAAATAAGATTCATATTAGTTACTAAGAAAGTGAAGGATCCTGCTTGATGGCTTTTTGTTTGTTAGGTCAAAACAAAAGACCTATTTTTAAGTTAAAGTAAGAAATTTAAAAGACTAAACCCAGCTGGACATAGTGGCTCATGCCTATAATCTCAGCATTTTGAGAGGCCTAGAGGGCACAATCACTTGAGGCCAGGAGTTCAAGACCATCCTGGG... | AAAGTTAGGCAAAGGTACATTTACACTATTAATCAGGAGCAAACAAGTTAGAACCACAAAACACTTAAAATATTTAGAAAATGGAAATAAAGTATAATTTGTTATAAATAAGATTCATATTAGTTACTAAGAAAGTGAAGGATCCTGCTTGATGGCTTTTTGTTTGTTAGGTCAAAACAAAAGACCTATTTTTAAGTTAAAGTAAGAAATTTAAAAGACTAAACCCAGCTGGACATAGTGGCTCATGCCTATAATCTCAGCATTTTGAGAGGCCTAGAGGGCACAATCACTTGAGGCCAGGAGTTCAAGACCATCCTGGG... |
Task1_train_30445 | Here is a mutation in ATP7A (ATPase copper transporting alpha) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cutis laxa, X-linked | AAAGTTAGGCAAAGGTACATTTACACTATTAATCAGGAGCAAACAAGTTAGAACCACAAAACACTTAAAATATTTAGAAAATGGAAATAAAGTATAATTTGTTATAAATAAGATTCATATTAGTTACTAAGAAAGTGAAGGATCCTGCTTGATGGCTTTTTGTTTGTTAGGTCAAAACAAAAGACCTATTTTTAAGTTAAAGTAAGAAATTTAAAAGACTAAACCCAGCTGGACATAGTGGCTCATGCCTATAATCTCAGCATTTTGAGAGGCCTAGAGGGCACAATCACTTGAGGCCAGGAGTTCAAGACCATCCTGGG... | AAAGTTAGGCAAAGGTACATTTACACTATTAATCAGGAGCAAACAAGTTAGAACCACAAAACACTTAAAATATTTAGAAAATGGAAATAAAGTATAATTTGTTATAAATAAGATTCATATTAGTTACTAAGAAAGTGAAGGATCCTGCTTGATGGCTTTTTGTTTGTTAGGTCAAAACAAAAGACCTATTTTTAAGTTAAAGTAAGAAATTTAAAAGACTAAACCCAGCTGGACATAGTGGCTCATGCCTATAATCTCAGCATTTTGAGAGGCCTAGAGGGCACAATCACTTGAGGCCAGGAGTTCAAGACCATCCTGGG... |
Task1_train_30446 | This mutation is located in gene ATP7A (ATPase copper transporting alpha) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Inborn genetic diseases | CCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTGGTGCTAGCTTTTATGGCCTATTAATGAGAACCTCTACTGAGGACAGTTGTACTTGAGTTAAACTCTTATATATAGGATACATATTAACTAGCATTAAGGAAATATTTATTTGTTTGATGAAAGATTGGAAACAAATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTT... | CCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTGGTGCTAGCTTTTATGGCCTATTAATGAGAACCTCTACTGAGGACAGTTGTACTTGAGTTAAACTCTTATATATAGGATACATATTAACTAGCATTAAGGAAATATTTATTTGTTTGATGAAAGATTGGAAACAAATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTT... |
Task1_train_30447 | This sequence change occurs on Chromosome X, altering ATP7A (ATPase copper transporting alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Menkes kinky-hair syndrome | CCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTGGTGCTAGCTTTTATGGCCTATTAATGAGAACCTCTACTGAGGACAGTTGTACTTGAGTTAAACTCTTATATATAGGATACATATTAACTAGCATTAAGGAAATATTTATTTGTTTGATGAAAGATTGGAAACAAATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTT... | CCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTGGTGCTAGCTTTTATGGCCTATTAATGAGAACCTCTACTGAGGACAGTTGTACTTGAGTTAAACTCTTATATATAGGATACATATTAACTAGCATTAAGGAAATATTTATTTGTTTGATGAAAGATTGGAAACAAATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTT... |
Task1_train_30448 | Located on Chromosome X, this mutation impacts ATP7A (ATPase copper transporting alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Cutis laxa, X-linked | CCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTGGTGCTAGCTTTTATGGCCTATTAATGAGAACCTCTACTGAGGACAGTTGTACTTGAGTTAAACTCTTATATATAGGATACATATTAACTAGCATTAAGGAAATATTTATTTGTTTGATGAAAGATTGGAAACAAATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTT... | CCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTGGTGCTAGCTTTTATGGCCTATTAATGAGAACCTCTACTGAGGACAGTTGTACTTGAGTTAAACTCTTATATATAGGATACATATTAACTAGCATTAAGGAAATATTTATTTGTTTGATGAAAGATTGGAAACAAATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTT... |
Task1_train_30449 | Chromosome X houses a mutation in gene ATP7A (ATPase copper transporting alpha). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; X-linked distal spinal muscular atrophy type 3 | CCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTGGTGCTAGCTTTTATGGCCTATTAATGAGAACCTCTACTGAGGACAGTTGTACTTGAGTTAAACTCTTATATATAGGATACATATTAACTAGCATTAAGGAAATATTTATTTGTTTGATGAAAGATTGGAAACAAATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTT... | CCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTGGTGCTAGCTTTTATGGCCTATTAATGAGAACCTCTACTGAGGACAGTTGTACTTGAGTTAAACTCTTATATATAGGATACATATTAACTAGCATTAAGGAAATATTTATTTGTTTGATGAAAGATTGGAAACAAATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTT... |
Task1_train_30450 | This mutation occurs in ATP7A (ATPase copper transporting alpha) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Menkes kinky-hair syndrome | CCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTGGTGCTAGCTTTTATGGCCTATTAATGAGAACCTCTACTGAGGACAGTTGTACTTGAGTTAAACTCTTATATATAGGATACATATTAACTAGCATTAAGGAAATATTTATTTGTTTGATGAAAGATTGGAAACAAATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTT... | CCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTGGTGCTAGCTTTTATGGCCTATTAATGAGAACCTCTACTGAGGACAGTTGTACTTGAGTTAAACTCTTATATATAGGATACATATTAACTAGCATTAAGGAAATATTTATTTGTTTGATGAAAGATTGGAAACAAATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTT... |
Task1_train_30451 | A variant was discovered in gene ATP7A (ATPase copper transporting alpha), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Menkes kinky-hair syndrome | ATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTTTTCTCATGAATTTCCTTAGAGCTTAGGTTTTGAAGCTTCTTTGGTCAAGAAGGATCGGTCAGCAAGTCACTTAGATCATAAACGAGAAATAAGACAGTAAGTACTTTGGAGTGTCAGTAAAAAACAGATTTTGACTCCTTATTACAAATTTTTTTTTGCATGTCAGTTTTTATAATAT... | ATGCAATCAAGAGCAGGAAGCACATCTTCATCTTTGTATTCCCCAGAGTGACTTGCCCTCAGTAATTGAACTGTTCTTAATGACAATACCATGGCTTAGAATTTCTCTATACAATATTTATATGTTCAGTGAAATAATTTTTTTCTCATGAATTTCCTTAGAGCTTAGGTTTTGAAGCTTCTTTGGTCAAGAAGGATCGGTCAGCAAGTCACTTAGATCATAAACGAGAAATAAGACAGTAAGTACTTTGGAGTGTCAGTAAAAAACAGATTTTGACTCCTTATTACAAATTTTTTTTTGCATGTCAGTTTTTATAATAT... |
Task1_train_30452 | A variant found in Chromosome X affects ATP7A (ATPase copper transporting alpha). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Menkes kinky-hair syndrome | CTGGGTTAAAGGGCATAAATATTTCTCTGGTTCATGGTACAAGTTGTAACAGTTTTTGCCAGCAGGGGTATGTCAGTGAAGTATTTTTACTACAACTTCACCAGCATTGCATCCCCCCCACAAATTCTTTCTAAGTTAATAGACATTAAATGGTATTACAGGGTAACTTTAGTTTGTGTTTCTTCCATTAATGGTGGGGATAAACATTTTTTCATCATCGGATGTTTATATTTCCTTTTGAATGATTTGCTTATATATGTCCTTTGCCTGTGTGTTTATTGGGTTCATGTTTTTCTTATTAATTTATATAATTTCTTCAT... | CTGGGTTAAAGGGCATAAATATTTCTCTGGTTCATGGTACAAGTTGTAACAGTTTTTGCCAGCAGGGGTATGTCAGTGAAGTATTTTTACTACAACTTCACCAGCATTGCATCCCCCCCACAAATTCTTTCTAAGTTAATAGACATTAAATGGTATTACAGGGTAACTTTAGTTTGTGTTTCTTCCATTAATGGTGGGGATAAACATTTTTTCATCATCGGATGTTTATATTTCCTTTTGAATGATTTGCTTATATATGTCCTTTGCCTGTGTGTTTATTGGGTTCATGTTTTTCTTATTAATTTATATAATTTCTTCAT... |
Task1_train_30453 | Gene ATP7A (ATPase copper transporting alpha) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cutis laxa, X-linked | TTTCTCTGGTTCATGGTACAAGTTGTAACAGTTTTTGCCAGCAGGGGTATGTCAGTGAAGTATTTTTACTACAACTTCACCAGCATTGCATCCCCCCCACAAATTCTTTCTAAGTTAATAGACATTAAATGGTATTACAGGGTAACTTTAGTTTGTGTTTCTTCCATTAATGGTGGGGATAAACATTTTTTCATCATCGGATGTTTATATTTCCTTTTGAATGATTTGCTTATATATGTCCTTTGCCTGTGTGTTTATTGGGTTCATGTTTTTCTTATTAATTTATATAATTTCTTCATAAATTATACCTAATAATACTT... | TTTCTCTGGTTCATGGTACAAGTTGTAACAGTTTTTGCCAGCAGGGGTATGTCAGTGAAGTATTTTTACTACAACTTCACCAGCATTGCATCCCCCCCACAAATTCTTTCTAAGTTAATAGACATTAAATGGTATTACAGGGTAACTTTAGTTTGTGTTTCTTCCATTAATGGTGGGGATAAACATTTTTTCATCATCGGATGTTTATATTTCCTTTTGAATGATTTGCTTATATATGTCCTTTGCCTGTGTGTTTATTGGGTTCATGTTTTTCTTATTAATTTATATAATTTCTTCATAAATTATACCTAATAATACTT... |
Task1_train_30454 | A variant affecting Chromosome X, within the gene ATP7A (ATPase copper transporting alpha), has been observed. Determine if it's benign or associated with disease. | Pathogenic; X-linked distal spinal muscular atrophy type 3 | TTTCTCTGGTTCATGGTACAAGTTGTAACAGTTTTTGCCAGCAGGGGTATGTCAGTGAAGTATTTTTACTACAACTTCACCAGCATTGCATCCCCCCCACAAATTCTTTCTAAGTTAATAGACATTAAATGGTATTACAGGGTAACTTTAGTTTGTGTTTCTTCCATTAATGGTGGGGATAAACATTTTTTCATCATCGGATGTTTATATTTCCTTTTGAATGATTTGCTTATATATGTCCTTTGCCTGTGTGTTTATTGGGTTCATGTTTTTCTTATTAATTTATATAATTTCTTCATAAATTATACCTAATAATACTT... | TTTCTCTGGTTCATGGTACAAGTTGTAACAGTTTTTGCCAGCAGGGGTATGTCAGTGAAGTATTTTTACTACAACTTCACCAGCATTGCATCCCCCCCACAAATTCTTTCTAAGTTAATAGACATTAAATGGTATTACAGGGTAACTTTAGTTTGTGTTTCTTCCATTAATGGTGGGGATAAACATTTTTTCATCATCGGATGTTTATATTTCCTTTTGAATGATTTGCTTATATATGTCCTTTGCCTGTGTGTTTATTGGGTTCATGTTTTTCTTATTAATTTATATAATTTCTTCATAAATTATACCTAATAATACTT... |
Task1_train_30455 | This gene mutation involves ATP7A (ATPase copper transporting alpha) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Menkes kinky-hair syndrome | CAATCCCATTTACAATAATCACACACAAAACATACCTAGGAATACATTTAACCAAGGAGGTGAAAGATCTCTACAGAGAGAAGCATAAAACACTGATGAAAGAAACTGAAGAAGACACAAACAAATGGAAAAACATTCCATGCCCATGGATTGGAAGCATTAATATTAAAACTACCATACTGTCCAAAGCAATCTATAGATTCAACACAATTCCTATAAAACTAATGTCCTCTGTCACAGAATTAAAAAAGCAATCCTAAAATTCATATGGAAAAAGAACCTAAATAGCCAAAGCCATCCTAAGCAAAAAGAATAAAACT... | CAATCCCATTTACAATAATCACACACAAAACATACCTAGGAATACATTTAACCAAGGAGGTGAAAGATCTCTACAGAGAGAAGCATAAAACACTGATGAAAGAAACTGAAGAAGACACAAACAAATGGAAAAACATTCCATGCCCATGGATTGGAAGCATTAATATTAAAACTACCATACTGTCCAAAGCAATCTATAGATTCAACACAATTCCTATAAAACTAATGTCCTCTGTCACAGAATTAAAAAAGCAATCCTAAAATTCATATGGAAAAAGAACCTAAATAGCCAAAGCCATCCTAAGCAAAAAGAATAAAACT... |
Task1_train_30456 | A variant was discovered in gene ATP7A (ATPase copper transporting alpha), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Menkes kinky-hair syndrome | GGTGGGTACAGGAGTAGGTGCTCAAAATGGCATACTAATAAAAGGTGGAGAGCCATTGGAGATGGCTCATAAGGTAAGACAGTCCCCAGAACTAAAACCTGTACCACCAAACTATCAATAGCACCCCTCACATGTGAGAAACACATACTCCTAAATTATTTCTCTGTGGTCCATGAGCTGAGCTGCTTCTAGGACTATCCAGAGATTTGAGGTAGGAAAGGTGTTATTTTGGTTCTGCTTCAGATTGGCCTTTGTTACCTAAGATTCCTAAAACTACTCCAGGCCTATTTATTAGAGCAGACCCTAATGTGGAAAACCTG... | GGTGGGTACAGGAGTAGGTGCTCAAAATGGCATACTAATAAAAGGTGGAGAGCCATTGGAGATGGCTCATAAGGTAAGACAGTCCCCAGAACTAAAACCTGTACCACCAAACTATCAATAGCACCCCTCACATGTGAGAAACACATACTCCTAAATTATTTCTCTGTGGTCCATGAGCTGAGCTGCTTCTAGGACTATCCAGAGATTTGAGGTAGGAAAGGTGTTATTTTGGTTCTGCTTCAGATTGGCCTTTGTTACCTAAGATTCCTAAAACTACTCCAGGCCTATTTATTAGAGCAGACCCTAATGTGGAAAACCTG... |
Task1_train_30457 | A mutation found in ATP7A (ATPase copper transporting alpha) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Menkes kinky-hair syndrome | TGCAAAGGCCCAGAGGCATGGAAGAACAGAGTATGTTCTTAGAAAATTTGAACATCACTGTTGGAGGCTATGTTCTAGGAGCAATACAATGTAGTGACTGTGCAAGGTTAGACAGGAAGAACTTGCTTCATGGGGTTTTATAAAGATTAATTGAACTTACTAAATGTTATTTCTGTGCCTACTTTCAGATGCTCTTAATGCTCAGCAGTATAAAGTCCTCATTGGTAACCGGGAGTGGATGATTAGAAATGGTCTTGTCATTAATAACGATGTAAATGATTTCATGACTGAACATGAGAGAAAAGGTCGGACTGCTGTAT... | TGCAAAGGCCCAGAGGCATGGAAGAACAGAGTATGTTCTTAGAAAATTTGAACATCACTGTTGGAGGCTATGTTCTAGGAGCAATACAATGTAGTGACTGTGCAAGGTTAGACAGGAAGAACTTGCTTCATGGGGTTTTATAAAGATTAATTGAACTTACTAAATGTTATTTCTGTGCCTACTTTCAGATGCTCTTAATGCTCAGCAGTATAAAGTCCTCATTGGTAACCGGGAGTGGATGATTAGAAATGGTCTTGTCATTAATAACGATGTAAATGATTTCATGACTGAACATGAGAGAAAAGGTCGGACTGCTGTAT... |
Task1_train_30458 | Consider this mutation in ATP7A (ATPase copper transporting alpha) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Menkes kinky-hair syndrome | GGCTATCCATATTCTGAAATCTATGGGCTTAGAAGTAGTTCTGATGACTGGAGACAACAGTAAAACAGCTAGATCTATTGCTTCTCAGGTAATTGATAGGGGTATGTGATAACTTCTAATTATTGATATACATTTTATATCTTGCCTTCAAATGCTAAGAAATTTACATTACCTACTATTTTCATTATCACTGAGTAGTCCTATCTGGTTCCTTCAAGAAAATTTACCATGCTTTGCTGGAAAGACTTTGGGCTTTGTGTGTTGCTGTTATACGTAAAAAGGTATTTGCTTAGTTCATGGGATGCTTGCGTGACACTGTA... | GGCTATCCATATTCTGAAATCTATGGGCTTAGAAGTAGTTCTGATGACTGGAGACAACAGTAAAACAGCTAGATCTATTGCTTCTCAGGTAATTGATAGGGGTATGTGATAACTTCTAATTATTGATATACATTTTATATCTTGCCTTCAAATGCTAAGAAATTTACATTACCTACTATTTTCATTATCACTGAGTAGTCCTATCTGGTTCCTTCAAGAAAATTTACCATGCTTTGCTGGAAAGACTTTGGGCTTTGTGTGTTGCTGTTATACGTAAAAAGGTATTTGCTTAGTTCATGGGATGCTTGCGTGACACTGTA... |
Task1_train_30459 | The gene ATP7A (ATPase copper transporting alpha), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Menkes kinky-hair syndrome | TATTCTGAAATCTATGGGCTTAGAAGTAGTTCTGATGACTGGAGACAACAGTAAAACAGCTAGATCTATTGCTTCTCAGGTAATTGATAGGGGTATGTGATAACTTCTAATTATTGATATACATTTTATATCTTGCCTTCAAATGCTAAGAAATTTACATTACCTACTATTTTCATTATCACTGAGTAGTCCTATCTGGTTCCTTCAAGAAAATTTACCATGCTTTGCTGGAAAGACTTTGGGCTTTGTGTGTTGCTGTTATACGTAAAAAGGTATTTGCTTAGTTCATGGGATGCTTGCGTGACACTGTACACCAATTT... | TATTCTGAAATCTATGGGCTTAGAAGTAGTTCTGATGACTGGAGACAACAGTAAAACAGCTAGATCTATTGCTTCTCAGGTAATTGATAGGGGTATGTGATAACTTCTAATTATTGATATACATTTTATATCTTGCCTTCAAATGCTAAGAAATTTACATTACCTACTATTTTCATTATCACTGAGTAGTCCTATCTGGTTCCTTCAAGAAAATTTACCATGCTTTGCTGGAAAGACTTTGGGCTTTGTGTGTTGCTGTTATACGTAAAAAGGTATTTGCTTAGTTCATGGGATGCTTGCGTGACACTGTACACCAATTT... |
Task1_train_30460 | The gene ATP7A (ATPase copper transporting alpha) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Menkes kinky-hair syndrome | AAGTAGTTCTGATGACTGGAGACAACAGTAAAACAGCTAGATCTATTGCTTCTCAGGTAATTGATAGGGGTATGTGATAACTTCTAATTATTGATATACATTTTATATCTTGCCTTCAAATGCTAAGAAATTTACATTACCTACTATTTTCATTATCACTGAGTAGTCCTATCTGGTTCCTTCAAGAAAATTTACCATGCTTTGCTGGAAAGACTTTGGGCTTTGTGTGTTGCTGTTATACGTAAAAAGGTATTTGCTTAGTTCATGGGATGCTTGCGTGACACTGTACACCAATTTCTGTTGATGTGCCCTTTGAAATG... | AAGTAGTTCTGATGACTGGAGACAACAGTAAAACAGCTAGATCTATTGCTTCTCAGGTAATTGATAGGGGTATGTGATAACTTCTAATTATTGATATACATTTTATATCTTGCCTTCAAATGCTAAGAAATTTACATTACCTACTATTTTCATTATCACTGAGTAGTCCTATCTGGTTCCTTCAAGAAAATTTACCATGCTTTGCTGGAAAGACTTTGGGCTTTGTGTGTTGCTGTTATACGTAAAAAGGTATTTGCTTAGTTCATGGGATGCTTGCGTGACACTGTACACCAATTTCTGTTGATGTGCCCTTTGAAATG... |
Task1_train_30461 | Given this context: Chromosome X, gene ATP7A (ATPase copper transporting alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Menkes kinky-hair syndrome | TCATCGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTAGGATTACATGCATACACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGGTCGTGAACTTCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCGCACCCGGCCTATTAACACCTTCTTATGTAAAAAATACAGAAGGATATAAAGTAAAAATGTCCTCTTTTCCCCATGCTCCCCATTCAGTCCTACTGCCCCTCA... | TCATCGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTAGGATTACATGCATACACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAAGCTGGTCGTGAACTTCGGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACACGTGTGAGCCACCGCACCCGGCCTATTAACACCTTCTTATGTAAAAAATACAGAAGGATATAAAGTAAAAATGTCCTCTTTTCCCCATGCTCCCCATTCAGTCCTACTGCCCCTCA... |
Task1_train_30462 | Gene ATP7A (ATPase copper transporting alpha), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Menkes kinky-hair syndrome | TACTGCTTTTTCCACTAAAGTTATTAGAGACCTAACATATTGGAAGCCTGTCTTCTTACTATTAGTTTTGAGCTTAGTTTTTGTTTGTAGCCTACTGGTATGGTGAGAGGTAATGTTAAAATCAATCATTTTAATTTTCAGTAATGTTTGTTATAGCTTAAGAATATATAAGCATTCTGACAGATTTATTTTTTTCCCTCCAACTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTCATACAATCTCGGCTCACTGCAGCCTCCATCTCCTGGGTTCAAGCAGTTCTCCTGCCT... | TACTGCTTTTTCCACTAAAGTTATTAGAGACCTAACATATTGGAAGCCTGTCTTCTTACTATTAGTTTTGAGCTTAGTTTTTGTTTGTAGCCTACTGGTATGGTGAGAGGTAATGTTAAAATCAATCATTTTAATTTTCAGTAATGTTTGTTATAGCTTAAGAATATATAAGCATTCTGACAGATTTATTTTTTTCCCTCCAACTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTCATACAATCTCGGCTCACTGCAGCCTCCATCTCCTGGGTTCAAGCAGTTCTCCTGCCT... |
Task1_train_30463 | Here is a variant affecting ATP7A (ATPase copper transporting alpha) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cutis laxa, X-linked | TACTGCTTTTTCCACTAAAGTTATTAGAGACCTAACATATTGGAAGCCTGTCTTCTTACTATTAGTTTTGAGCTTAGTTTTTGTTTGTAGCCTACTGGTATGGTGAGAGGTAATGTTAAAATCAATCATTTTAATTTTCAGTAATGTTTGTTATAGCTTAAGAATATATAAGCATTCTGACAGATTTATTTTTTTCCCTCCAACTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTCATACAATCTCGGCTCACTGCAGCCTCCATCTCCTGGGTTCAAGCAGTTCTCCTGCCT... | TACTGCTTTTTCCACTAAAGTTATTAGAGACCTAACATATTGGAAGCCTGTCTTCTTACTATTAGTTTTGAGCTTAGTTTTTGTTTGTAGCCTACTGGTATGGTGAGAGGTAATGTTAAAATCAATCATTTTAATTTTCAGTAATGTTTGTTATAGCTTAAGAATATATAAGCATTCTGACAGATTTATTTTTTTCCCTCCAACTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTCATACAATCTCGGCTCACTGCAGCCTCCATCTCCTGGGTTCAAGCAGTTCTCCTGCCT... |
Task1_train_30464 | The gene ATP7A (ATPase copper transporting alpha) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; X-linked distal spinal muscular atrophy type 3 | TACTGCTTTTTCCACTAAAGTTATTAGAGACCTAACATATTGGAAGCCTGTCTTCTTACTATTAGTTTTGAGCTTAGTTTTTGTTTGTAGCCTACTGGTATGGTGAGAGGTAATGTTAAAATCAATCATTTTAATTTTCAGTAATGTTTGTTATAGCTTAAGAATATATAAGCATTCTGACAGATTTATTTTTTTCCCTCCAACTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTCATACAATCTCGGCTCACTGCAGCCTCCATCTCCTGGGTTCAAGCAGTTCTCCTGCCT... | TACTGCTTTTTCCACTAAAGTTATTAGAGACCTAACATATTGGAAGCCTGTCTTCTTACTATTAGTTTTGAGCTTAGTTTTTGTTTGTAGCCTACTGGTATGGTGAGAGGTAATGTTAAAATCAATCATTTTAATTTTCAGTAATGTTTGTTATAGCTTAAGAATATATAAGCATTCTGACAGATTTATTTTTTTCCCTCCAACTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTCATACAATCTCGGCTCACTGCAGCCTCCATCTCCTGGGTTCAAGCAGTTCTCCTGCCT... |
Task1_train_30465 | A mutation on Chromosome X affecting PGK1 (phosphoglycerate kinase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | GGGTCTTTGTATAAGGCAGATCTGATCCCGCTTGATCTTCATTATTGTGCAACACACAGAAACGATTGGAAATATGCCTATCAAGTTATTTTAAGAGTAAAGAAACATGTTTGGAAATCTTTTCATTTCCGGAAATCCATGGAGTTGATTAACAAAATGAAGCATTAGAAATAATAAAACTTGCTGATAAGGGATAGTCCTGAAAACTAATTGGTTCCATTGCACAAACTTTGTACCTGATACAGATTTTTAAATTTGATATAAAGGAGTTCTTATATCTGCTAAATATTAATAACATAAGATATTTTAAAAGTATAACT... | GGGTCTTTGTATAAGGCAGATCTGATCCCGCTTGATCTTCATTATTGTGCAACACACAGAAACGATTGGAAATATGCCTATCAAGTTATTTTAAGAGTAAAGAAACATGTTTGGAAATCTTTTCATTTCCGGAAATCCATGGAGTTGATTAACAAAATGAAGCATTAGAAATAATAAAACTTGCTGATAAGGGATAGTCCTGAAAACTAATTGGTTCCATTGCACAAACTTTGTACCTGATACAGATTTTTAAATTTGATATAAAGGAGTTCTTATATCTGCTAAATATTAATAACATAAGATATTTTAAAAGTATAACT... |
Task1_train_30466 | This sequence change occurs on Chromosome X, altering PGK1 (phosphoglycerate kinase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | CATTTCCGGAAATCCATGGAGTTGATTAACAAAATGAAGCATTAGAAATAATAAAACTTGCTGATAAGGGATAGTCCTGAAAACTAATTGGTTCCATTGCACAAACTTTGTACCTGATACAGATTTTTAAATTTGATATAAAGGAGTTCTTATATCTGCTAAATATTAATAACATAAGATATTTTAAAAGTATAACTTTTTTAATCATTCCATTCTTTGCTCAGATGTCATCATATCAGACTTTCCCTGGCCATCCTGTCTAAAAATCTCCTCTACCATTGTTCCCCGGTCATTTTTGTCCTCAAAAGTAGGGGAACAAA... | CATTTCCGGAAATCCATGGAGTTGATTAACAAAATGAAGCATTAGAAATAATAAAACTTGCTGATAAGGGATAGTCCTGAAAACTAATTGGTTCCATTGCACAAACTTTGTACCTGATACAGATTTTTAAATTTGATATAAAGGAGTTCTTATATCTGCTAAATATTAATAACATAAGATATTTTAAAAGTATAACTTTTTTAATCATTCCATTCTTTGCTCAGATGTCATCATATCAGACTTTCCCTGGCCATCCTGTCTAAAAATCTCCTCTACCATTGTTCCCCGGTCATTTTTGTCCTCAAAAGTAGGGGAACAAA... |
Task1_train_30467 | This gene mutation involves PGK1 (phosphoglycerate kinase 1) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | AATACCTGAAATTTCAGGAGTCAGTCCCAAGTTCAAAATGGATTAAAAAAACAGTGAGGCTGGGTGCGGTGCCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAGACCTGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAGTCGGGCATGGTGGCAAGTGCCTGTAATTCCAGCTACTCCGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGATGTGGAGGTTGCAGTGAGCCAAGTTTGCAGCACTGCATTCCAGCCTGGGCAACAGA... | AATACCTGAAATTTCAGGAGTCAGTCCCAAGTTCAAAATGGATTAAAAAAACAGTGAGGCTGGGTGCGGTGCCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAGACCTGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAGTCGGGCATGGTGGCAAGTGCCTGTAATTCCAGCTACTCCGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGATGTGGAGGTTGCAGTGAGCCAAGTTTGCAGCACTGCATTCCAGCCTGGGCAACAGA... |
Task1_train_30468 | This gene mutation involves PGK1 (phosphoglycerate kinase 1) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AGTCAGTCCCAAGTTCAAAATGGATTAAAAAAACAGTGAGGCTGGGTGCGGTGCCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAGACCTGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAGTCGGGCATGGTGGCAAGTGCCTGTAATTCCAGCTACTCCGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGATGTGGAGGTTGCAGTGAGCCAAGTTTGCAGCACTGCATTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAA... | AGTCAGTCCCAAGTTCAAAATGGATTAAAAAAACAGTGAGGCTGGGTGCGGTGCCTCATGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAGACCTGCCTGGCCAACATGGTGAAACCCTGTTTCTACTAAAAATACAAAAAAGTCGGGCATGGTGGCAAGTGCCTGTAATTCCAGCTACTCCGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGATGTGGAGGTTGCAGTGAGCCAAGTTTGCAGCACTGCATTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAA... |
Task1_train_30469 | Assess the clinical impact of this variant on gene PGK1 (phosphoglycerate kinase 1), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | GATCCTCCCATATTGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCTACTGCCCCTGGCCTCCTTAAATAGTTCGTAAATGGAGGGGTTATTATGCCTTTTTGATAGAAGGGAAAATTTCAGAGCAACTTCCCAAAGGTGACACAATGAATTAGTGTCAGAGCTGGACATAGAACTCAGGTCTCCTTACATTTGAGCATTGTTATCATTACTACATGTGTCATCTTCCAATCACTAGTGGCAGATGTTATTGTAGTCTACAGAGCTTATGGGAGTGCCACAATCTTCAATTTTAGCATTAGTGCCTCTGCAATTCTTT... | GATCCTCCCATATTGGCCTCCCAAAGTGTTGGGATTATAGGTGTGAGCTACTGCCCCTGGCCTCCTTAAATAGTTCGTAAATGGAGGGGTTATTATGCCTTTTTGATAGAAGGGAAAATTTCAGAGCAACTTCCCAAAGGTGACACAATGAATTAGTGTCAGAGCTGGACATAGAACTCAGGTCTCCTTACATTTGAGCATTGTTATCATTACTACATGTGTCATCTTCCAATCACTAGTGGCAGATGTTATTGTAGTCTACAGAGCTTATGGGAGTGCCACAATCTTCAATTTTAGCATTAGTGCCTCTGCAATTCTTT... |
Task1_train_30470 | The variant affects gene PGK1 (phosphoglycerate kinase 1), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | TCAGAAGTGTCTTTTTACAGTTGGTTTGTTTGAATAAGGATTCAAATGAAGTCCATGCATTGCCTTTGGCTGTTAGGTATCTCTTGTAATAATCTCCTATTTATTACTTTCATTCTGTTGATTTGTTGAAGAAACAGGCATTTGAGCTGTAAGCTATTCTTTAGAAGAAATTGAACTCCTTTCTAACTGCTTTCTTCCCTTTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTATTTAAAACAATCTATCTTTACCCTTGGTGGTAACCAATCTTTACAACTGAAATAAATAGTAAATAGTTTCTTGCCATCTGTTCAC... | TCAGAAGTGTCTTTTTACAGTTGGTTTGTTTGAATAAGGATTCAAATGAAGTCCATGCATTGCCTTTGGCTGTTAGGTATCTCTTGTAATAATCTCCTATTTATTACTTTCATTCTGTTGATTTGTTGAAGAAACAGGCATTTGAGCTGTAAGCTATTCTTTAGAAGAAATTGAACTCCTTTCTAACTGCTTTCTTCCCTTTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTATTTAAAACAATCTATCTTTACCCTTGGTGGTAACCAATCTTTACAACTGAAATAAATAGTAAATAGTTTCTTGCCATCTGTTCAC... |
Task1_train_30471 | With a mutation on Chromosome X in gene PGK1 (phosphoglycerate kinase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | CCATGCATTGCCTTTGGCTGTTAGGTATCTCTTGTAATAATCTCCTATTTATTACTTTCATTCTGTTGATTTGTTGAAGAAACAGGCATTTGAGCTGTAAGCTATTCTTTAGAAGAAATTGAACTCCTTTCTAACTGCTTTCTTCCCTTTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTATTTAAAACAATCTATCTTTACCCTTGGTGGTAACCAATCTTTACAACTGAAATAAATAGTAAATAGTTTCTTGCCATCTGTTCACCCACATCACTGTTGTTTCATACCTCCTTTTCACAAATCCTAGCATAGGGTTT... | CCATGCATTGCCTTTGGCTGTTAGGTATCTCTTGTAATAATCTCCTATTTATTACTTTCATTCTGTTGATTTGTTGAAGAAACAGGCATTTGAGCTGTAAGCTATTCTTTAGAAGAAATTGAACTCCTTTCTAACTGCTTTCTTCCCTTTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTATTTAAAACAATCTATCTTTACCCTTGGTGGTAACCAATCTTTACAACTGAAATAAATAGTAAATAGTTTCTTGCCATCTGTTCACCCACATCACTGTTGTTTCATACCTCCTTTTCACAAATCCTAGCATAGGGTTT... |
Task1_train_30472 | This mutation occurs in PGK1 (phosphoglycerate kinase 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | AGCTAAAGTTGCAGACAAGATCCAGCTCATCAATAATATGCTGGACAAAGTCAATGAGATGATTATTGGTGGTGGAATGGCTTTTACCTTCCTTAAGGTGCTCAACAACATGGAGGTAGGAAACAAATGCCAAGTGGATGTGAAATAGCTCTCCATGATAATAGCAGGTTGTATAAATGTAAAAAGAAAACAGTCTTTTGACATGAGCCCTGAAAATTCCCATTTTTATTTATTTTGGCAAGTCTTTCGTCTTTGCATTGTTCCTTTATATTGTATTGTGTCTGGTTCCTGTCTGCTTTGTGAGGCAGTCTTGTTCTTAG... | AGCTAAAGTTGCAGACAAGATCCAGCTCATCAATAATATGCTGGACAAAGTCAATGAGATGATTATTGGTGGTGGAATGGCTTTTACCTTCCTTAAGGTGCTCAACAACATGGAGGTAGGAAACAAATGCCAAGTGGATGTGAAATAGCTCTCCATGATAATAGCAGGTTGTATAAATGTAAAAAGAAAACAGTCTTTTGACATGAGCCCTGAAAATTCCCATTTTTATTTATTTTGGCAAGTCTTTCGTCTTTGCATTGTTCCTTTATATTGTATTGTGTCTGGTTCCTGTCTGCTTTGTGAGGCAGTCTTGTTCTTAG... |
Task1_train_30473 | The gene PGK1 (phosphoglycerate kinase 1), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | GACAAGATCCAGCTCATCAATAATATGCTGGACAAAGTCAATGAGATGATTATTGGTGGTGGAATGGCTTTTACCTTCCTTAAGGTGCTCAACAACATGGAGGTAGGAAACAAATGCCAAGTGGATGTGAAATAGCTCTCCATGATAATAGCAGGTTGTATAAATGTAAAAAGAAAACAGTCTTTTGACATGAGCCCTGAAAATTCCCATTTTTATTTATTTTGGCAAGTCTTTCGTCTTTGCATTGTTCCTTTATATTGTATTGTGTCTGGTTCCTGTCTGCTTTGTGAGGCAGTCTTGTTCTTAGTATAGATGCTGAC... | GACAAGATCCAGCTCATCAATAATATGCTGGACAAAGTCAATGAGATGATTATTGGTGGTGGAATGGCTTTTACCTTCCTTAAGGTGCTCAACAACATGGAGGTAGGAAACAAATGCCAAGTGGATGTGAAATAGCTCTCCATGATAATAGCAGGTTGTATAAATGTAAAAAGAAAACAGTCTTTTGACATGAGCCCTGAAAATTCCCATTTTTATTTATTTTGGCAAGTCTTTCGTCTTTGCATTGTTCCTTTATATTGTATTGTGTCTGGTTCCTGTCTGCTTTGTGAGGCAGTCTTGTTCTTAGTATAGATGCTGAC... |
Task1_train_30474 | This sequence change occurs on Chromosome X, altering PGK1 (phosphoglycerate kinase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | TGTCACTGCTGACAAGTTTGATGAGAATGCCAAGACTGGCCAAGCCACTGTGGCTTCTGGCATACCTGCTGGCTGGATGGTGAGTCACTTGAGTGGGTTGGTAGTGTGAGTGAACAGAAACTCTGTGGTGTCATTTATTCATTGATTCAGCCAATCAACAAGCATTTTAAAACAATCTCTATAGGAGATCTGTCAGAGAGGGCTCTGCATGTTGCAGTGAGTCCCTCATGGAAGAATCCATGGGAGAAAAGCAGTGCTATTGGATTACTGGCCTTCAGTAATGCAGTAATGTGTTGCAAAACTTTGTTGTTGTTGTTTTT... | TGTCACTGCTGACAAGTTTGATGAGAATGCCAAGACTGGCCAAGCCACTGTGGCTTCTGGCATACCTGCTGGCTGGATGGTGAGTCACTTGAGTGGGTTGGTAGTGTGAGTGAACAGAAACTCTGTGGTGTCATTTATTCATTGATTCAGCCAATCAACAAGCATTTTAAAACAATCTCTATAGGAGATCTGTCAGAGAGGGCTCTGCATGTTGCAGTGAGTCCCTCATGGAAGAATCCATGGGAGAAAAGCAGTGCTATTGGATTACTGGCCTTCAGTAATGCAGTAATGTGTTGCAAAACTTTGTTGTTGTTGTTTTT... |
Task1_train_30475 | With a mutation on Chromosome X in gene TBX22 (T-box transcription factor 22), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cleft palate with ankyloglossia | TGGGAGCAAAGGCCCTTTTGTTGCCCTGCTGGTGGACCTGGAGTTTTTAGACTGTGTTTGCTGATTAAGTACTGTGAGAAAAAACAAAGACTATGTATAGGAATATTGGGCTCCAGCAGAGGCAGGGCTTGAAGATCCAAGTTTTCTCTGATGCTTGACAGTGGCATTGGGAGACTCCTGCCTGCCCTCACCTCACTAACAGAAGAGAGCGGATAAACTGGCACAACTGCTGCTCACCTAATTTGAGACTCCAACTGCAGAGCCAACTGGCCCCAAAAGCTTGTACTCCTTTCTGTTTCCCAGTGCCTTCACTGGAGAGC... | TGGGAGCAAAGGCCCTTTTGTTGCCCTGCTGGTGGACCTGGAGTTTTTAGACTGTGTTTGCTGATTAAGTACTGTGAGAAAAAACAAAGACTATGTATAGGAATATTGGGCTCCAGCAGAGGCAGGGCTTGAAGATCCAAGTTTTCTCTGATGCTTGACAGTGGCATTGGGAGACTCCTGCCTGCCCTCACCTCACTAACAGAAGAGAGCGGATAAACTGGCACAACTGCTGCTCACCTAATTTGAGACTCCAACTGCAGAGCCAACTGGCCCCAAAAGCTTGTACTCCTTTCTGTTTCCCAGTGCCTTCACTGGAGAGC... |
Task1_train_30476 | A sequence alteration has been identified in TBX22 (T-box transcription factor 22) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Cleft palate with ankyloglossia | TAGGCCTGTCTTTTCGTCCATCTTTAACCTTTCCCCTGAAGTAATGTCTGGGTCTTAGAGGGTACAAGTATCATTTTCCCTTTATTTAAGCCCTCAACCTACAGCAGGCTGAAAGTGGCCCAACTGTTTTAAAGCCAAAAAGCCCTTCTGGGATACACCCCAGACACACCAGCTTGCCAACACTTTGACTCAGGGGCTTGGGGTCCAGTTCAGGGTTGGAGGGGTTGGGGAGGTGACAGCTGTTTACACTAGGGCTGTGAGCATTTGACCCAGAGGTGGGTCCCTGGTCCTCCAAGGAGACAGCCCACCTCAAAACCAGA... | TAGGCCTGTCTTTTCGTCCATCTTTAACCTTTCCCCTGAAGTAATGTCTGGGTCTTAGAGGGTACAAGTATCATTTTCCCTTTATTTAAGCCCTCAACCTACAGCAGGCTGAAAGTGGCCCAACTGTTTTAAAGCCAAAAAGCCCTTCTGGGATACACCCCAGACACACCAGCTTGCCAACACTTTGACTCAGGGGCTTGGGGTCCAGTTCAGGGTTGGAGGGGTTGGGGAGGTGACAGCTGTTTACACTAGGGCTGTGAGCATTTGACCCAGAGGTGGGTCCCTGGTCCTCCAAGGAGACAGCCCACCTCAAAACCAGA... |
Task1_train_30477 | This variant affects gene TBX22 (T-box transcription factor 22) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Cleft palate with ankyloglossia | AAAGCCCTTCTGGGATACACCCCAGACACACCAGCTTGCCAACACTTTGACTCAGGGGCTTGGGGTCCAGTTCAGGGTTGGAGGGGTTGGGGAGGTGACAGCTGTTTACACTAGGGCTGTGAGCATTTGACCCAGAGGTGGGTCCCTGGTCCTCCAAGGAGACAGCCCACCTCAAAACCAGAGCTAGCTTTGAAAGCAAGGAGAAGGCTCTGCTCAGAGGACTGCTGGGGCTGCAGTATGGAAACAGCAGAAAAAGCTGTTTGCTTCTCAAATTGCAGCTGGCTTGGGAATAAGAGCAAAACTGGGAAGTTGAGATTGGA... | AAAGCCCTTCTGGGATACACCCCAGACACACCAGCTTGCCAACACTTTGACTCAGGGGCTTGGGGTCCAGTTCAGGGTTGGAGGGGTTGGGGAGGTGACAGCTGTTTACACTAGGGCTGTGAGCATTTGACCCAGAGGTGGGTCCCTGGTCCTCCAAGGAGACAGCCCACCTCAAAACCAGAGCTAGCTTTGAAAGCAAGGAGAAGGCTCTGCTCAGAGGACTGCTGGGGCTGCAGTATGGAAACAGCAGAAAAAGCTGTTTGCTTCTCAAATTGCAGCTGGCTTGGGAATAAGAGCAAAACTGGGAAGTTGAGATTGGA... |
Task1_train_30478 | Here is a variant affecting TBX22 (T-box transcription factor 22) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cleft palate with ankyloglossia | GGGATACACCCCAGACACACCAGCTTGCCAACACTTTGACTCAGGGGCTTGGGGTCCAGTTCAGGGTTGGAGGGGTTGGGGAGGTGACAGCTGTTTACACTAGGGCTGTGAGCATTTGACCCAGAGGTGGGTCCCTGGTCCTCCAAGGAGACAGCCCACCTCAAAACCAGAGCTAGCTTTGAAAGCAAGGAGAAGGCTCTGCTCAGAGGACTGCTGGGGCTGCAGTATGGAAACAGCAGAAAAAGCTGTTTGCTTCTCAAATTGCAGCTGGCTTGGGAATAAGAGCAAAACTGGGAAGTTGAGATTGGAAATAGTGTGAA... | GGGATACACCCCAGACACACCAGCTTGCCAACACTTTGACTCAGGGGCTTGGGGTCCAGTTCAGGGTTGGAGGGGTTGGGGAGGTGACAGCTGTTTACACTAGGGCTGTGAGCATTTGACCCAGAGGTGGGTCCCTGGTCCTCCAAGGAGACAGCCCACCTCAAAACCAGAGCTAGCTTTGAAAGCAAGGAGAAGGCTCTGCTCAGAGGACTGCTGGGGCTGCAGTATGGAAACAGCAGAAAAAGCTGTTTGCTTCTCAAATTGCAGCTGGCTTGGGAATAAGAGCAAAACTGGGAAGTTGAGATTGGAAATAGTGTGAA... |
Task1_train_30479 | With a mutation on Chromosome X in gene BRWD3 (bromodomain and WD repeat domain containing 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Intellectual disability, X-linked 93 | GACAATAAGGGTTTTTAAAGATGTTTTTTATCTATAAAATAATGATTCACAACATGAGTGTGCAGTGCAATAAGGTTCTTTCCTGAAAGACTAGAACAGAAGAACCCTTTGGAATGATATGAGCAGAATCTATAAGTTGATTCATAATACTAGCTAGCCAAAACATTCCAAATCAAACCAGGTGCTTTGTTAAATTTTAAGATTCAAATGAAAACCAGCAACTCACAGCTGTTAAATGGTAAGTGGAGCAGAAATATATAAGCAGTAGCCCAAGTCTACTTACACAAATATGTTCTAAGAAAGCCTAAGGTGGTAGAGCA... | GACAATAAGGGTTTTTAAAGATGTTTTTTATCTATAAAATAATGATTCACAACATGAGTGTGCAGTGCAATAAGGTTCTTTCCTGAAAGACTAGAACAGAAGAACCCTTTGGAATGATATGAGCAGAATCTATAAGTTGATTCATAATACTAGCTAGCCAAAACATTCCAAATCAAACCAGGTGCTTTGTTAAATTTTAAGATTCAAATGAAAACCAGCAACTCACAGCTGTTAAATGGTAAGTGGAGCAGAAATATATAAGCAGTAGCCCAAGTCTACTTACACAAATATGTTCTAAGAAAGCCTAAGGTGGTAGAGCA... |
Task1_train_30480 | A sequence alteration has been identified in BRWD3 (bromodomain and WD repeat domain containing 3) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Intellectual disability, X-linked 93 | ATCCCTAAGAAACAAGTCATTTCAAAAGCTTCAGTAATTTTTACAATTTTTCAATTAATTTTTTTAAAATTAATTTTTTAAAAACCTTAAGTTAGACTCTCTGGAAGCTAAAACTGCTTCTTACCCAATAAATCGAAGTAAGACATCAGTTACAATTTTAGCTGCTTTAACTATAGGACTGTCTGGCTCATTGAAAGTCCTGGCATTATGTTCAATATAGCGTACCTCCCACATTAATGCTGATATTCTCCTGTGAAAGAAAAAATACTCTGTTAGCCTTGGCTAATATATTTAAAGTATATTTTAGGAATATACAATAT... | ATCCCTAAGAAACAAGTCATTTCAAAAGCTTCAGTAATTTTTACAATTTTTCAATTAATTTTTTTAAAATTAATTTTTTAAAAACCTTAAGTTAGACTCTCTGGAAGCTAAAACTGCTTCTTACCCAATAAATCGAAGTAAGACATCAGTTACAATTTTAGCTGCTTTAACTATAGGACTGTCTGGCTCATTGAAAGTCCTGGCATTATGTTCAATATAGCGTACCTCCCACATTAATGCTGATATTCTCCTGTGAAAGAAAAAATACTCTGTTAGCCTTGGCTAATATATTTAAAGTATATTTTAGGAATATACAATAT... |
Task1_train_30481 | This alteration occurs within gene BRWD3 (bromodomain and WD repeat domain containing 3) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Intellectual disability, X-linked 93 | TTTAATAATACCCATTCTGACTGGTGTGAGATGGTATCTTGTGGCTTTGATTTGCATTTCCCTAATGATTAGTGATGTTTTAGCATTTTTTCATATGTTTGTTGGTCGCTTATACATTTTCTTTTAAGAAGTGTCTGTTCATGTCCTTTGCCATTTTTAAATGAGATTGTTTGTTTTTTTGCTTGTTGATTGAAGTTCCTTATAGATTCTGGATATGATCTTACAATAATCATACACATTTACTGATTATTAATCACATTTAACAGATGGCAAAACTGATCTTCATAGGTATAGGGTCCTGCTTAAAGTTATATATTAGC... | TTTAATAATACCCATTCTGACTGGTGTGAGATGGTATCTTGTGGCTTTGATTTGCATTTCCCTAATGATTAGTGATGTTTTAGCATTTTTTCATATGTTTGTTGGTCGCTTATACATTTTCTTTTAAGAAGTGTCTGTTCATGTCCTTTGCCATTTTTAAATGAGATTGTTTGTTTTTTTGCTTGTTGATTGAAGTTCCTTATAGATTCTGGATATGATCTTACAATAATCATACACATTTACTGATTATTAATCACATTTAACAGATGGCAAAACTGATCTTCATAGGTATAGGGTCCTGCTTAAAGTTATATATTAGC... |
Task1_train_30482 | Given this context: Chromosome X, gene POU3F4 (POU class 3 homeobox 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; X-linked mixed hearing loss with perilymphatic gusher | CTTTTCAAGCTGAAAGCAAATTCAAGCTTGATGGGGACTGGGGAAGTGGGGGCGGTACTTGATGCCAAACATCCCGCCATTTCTCTCTCTCTGAATTTCCTGGGCACATTAAATGCAGGGCGGGTGAGGAGGGTGGGGGAGCGGTGAAGGTTAAAAACAATTTTCCTAGGGGATGGCATCGGGGCGCGGGGTCACGAACGTTTTCCTGTATACCTATTCGTAGTGGGTCTGCAGAGTGTTTTGGGTGAGTGTGAGGGCTGCCCGCTTCAGCAAGCAGAACCTTTGACAGAAGTTGTGGGATCTGTGATGGGAACTGATAT... | CTTTTCAAGCTGAAAGCAAATTCAAGCTTGATGGGGACTGGGGAAGTGGGGGCGGTACTTGATGCCAAACATCCCGCCATTTCTCTCTCTCTGAATTTCCTGGGCACATTAAATGCAGGGCGGGTGAGGAGGGTGGGGGAGCGGTGAAGGTTAAAAACAATTTTCCTAGGGGATGGCATCGGGGCGCGGGGTCACGAACGTTTTCCTGTATACCTATTCGTAGTGGGTCTGCAGAGTGTTTTGGGTGAGTGTGAGGGCTGCCCGCTTCAGCAAGCAGAACCTTTGACAGAAGTTGTGGGATCTGTGATGGGAACTGATAT... |
Task1_train_30483 | A variant was discovered on Chromosome X, affecting POU3F4 (POU class 3 homeobox 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; X-linked mixed hearing loss with perilymphatic gusher | TTGATGCCAAACATCCCGCCATTTCTCTCTCTCTGAATTTCCTGGGCACATTAAATGCAGGGCGGGTGAGGAGGGTGGGGGAGCGGTGAAGGTTAAAAACAATTTTCCTAGGGGATGGCATCGGGGCGCGGGGTCACGAACGTTTTCCTGTATACCTATTCGTAGTGGGTCTGCAGAGTGTTTTGGGTGAGTGTGAGGGCTGCCCGCTTCAGCAAGCAGAACCTTTGACAGAAGTTGTGGGATCTGTGATGGGAACTGATATGGAGCAGTGAGAAAGCAAGGTTTCCAATTGACCAGCTAGATTGGGAAGCAAACTTCGA... | TTGATGCCAAACATCCCGCCATTTCTCTCTCTCTGAATTTCCTGGGCACATTAAATGCAGGGCGGGTGAGGAGGGTGGGGGAGCGGTGAAGGTTAAAAACAATTTTCCTAGGGGATGGCATCGGGGCGCGGGGTCACGAACGTTTTCCTGTATACCTATTCGTAGTGGGTCTGCAGAGTGTTTTGGGTGAGTGTGAGGGCTGCCCGCTTCAGCAAGCAGAACCTTTGACAGAAGTTGTGGGATCTGTGATGGGAACTGATATGGAGCAGTGAGAAAGCAAGGTTTCCAATTGACCAGCTAGATTGGGAAGCAAACTTCGA... |
Task1_train_30484 | A genomic change on Chromosome X affects POU3F4 (POU class 3 homeobox 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; X-linked mixed hearing loss with perilymphatic gusher | CCGCCATTTCTCTCTCTCTGAATTTCCTGGGCACATTAAATGCAGGGCGGGTGAGGAGGGTGGGGGAGCGGTGAAGGTTAAAAACAATTTTCCTAGGGGATGGCATCGGGGCGCGGGGTCACGAACGTTTTCCTGTATACCTATTCGTAGTGGGTCTGCAGAGTGTTTTGGGTGAGTGTGAGGGCTGCCCGCTTCAGCAAGCAGAACCTTTGACAGAAGTTGTGGGATCTGTGATGGGAACTGATATGGAGCAGTGAGAAAGCAAGGTTTCCAATTGACCAGCTAGATTGGGAAGCAAACTTCGAAATAACTGAATATTG... | CCGCCATTTCTCTCTCTCTGAATTTCCTGGGCACATTAAATGCAGGGCGGGTGAGGAGGGTGGGGGAGCGGTGAAGGTTAAAAACAATTTTCCTAGGGGATGGCATCGGGGCGCGGGGTCACGAACGTTTTCCTGTATACCTATTCGTAGTGGGTCTGCAGAGTGTTTTGGGTGAGTGTGAGGGCTGCCCGCTTCAGCAAGCAGAACCTTTGACAGAAGTTGTGGGATCTGTGATGGGAACTGATATGGAGCAGTGAGAAAGCAAGGTTTCCAATTGACCAGCTAGATTGGGAAGCAAACTTCGAAATAACTGAATATTG... |
Task1_train_30485 | The gene POU3F4 (POU class 3 homeobox 4) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; X-linked mixed hearing loss with perilymphatic gusher | CTGAATTTCCTGGGCACATTAAATGCAGGGCGGGTGAGGAGGGTGGGGGAGCGGTGAAGGTTAAAAACAATTTTCCTAGGGGATGGCATCGGGGCGCGGGGTCACGAACGTTTTCCTGTATACCTATTCGTAGTGGGTCTGCAGAGTGTTTTGGGTGAGTGTGAGGGCTGCCCGCTTCAGCAAGCAGAACCTTTGACAGAAGTTGTGGGATCTGTGATGGGAACTGATATGGAGCAGTGAGAAAGCAAGGTTTCCAATTGACCAGCTAGATTGGGAAGCAAACTTCGAAATAACTGAATATTGTCAGTATCACATTAGAT... | CTGAATTTCCTGGGCACATTAAATGCAGGGCGGGTGAGGAGGGTGGGGGAGCGGTGAAGGTTAAAAACAATTTTCCTAGGGGATGGCATCGGGGCGCGGGGTCACGAACGTTTTCCTGTATACCTATTCGTAGTGGGTCTGCAGAGTGTTTTGGGTGAGTGTGAGGGCTGCCCGCTTCAGCAAGCAGAACCTTTGACAGAAGTTGTGGGATCTGTGATGGGAACTGATATGGAGCAGTGAGAAAGCAAGGTTTCCAATTGACCAGCTAGATTGGGAAGCAAACTTCGAAATAACTGAATATTGTCAGTATCACATTAGAT... |
Task1_train_30486 | A change on Chromosome X affects gene POU3F4 (POU class 3 homeobox 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; X-linked mixed hearing loss with perilymphatic gusher | TGCAGGGCGGGTGAGGAGGGTGGGGGAGCGGTGAAGGTTAAAAACAATTTTCCTAGGGGATGGCATCGGGGCGCGGGGTCACGAACGTTTTCCTGTATACCTATTCGTAGTGGGTCTGCAGAGTGTTTTGGGTGAGTGTGAGGGCTGCCCGCTTCAGCAAGCAGAACCTTTGACAGAAGTTGTGGGATCTGTGATGGGAACTGATATGGAGCAGTGAGAAAGCAAGGTTTCCAATTGACCAGCTAGATTGGGAAGCAAACTTCGAAATAACTGAATATTGTCAGTATCACATTAGATTTTACTTTCCCAGAATAATTCAG... | TGCAGGGCGGGTGAGGAGGGTGGGGGAGCGGTGAAGGTTAAAAACAATTTTCCTAGGGGATGGCATCGGGGCGCGGGGTCACGAACGTTTTCCTGTATACCTATTCGTAGTGGGTCTGCAGAGTGTTTTGGGTGAGTGTGAGGGCTGCCCGCTTCAGCAAGCAGAACCTTTGACAGAAGTTGTGGGATCTGTGATGGGAACTGATATGGAGCAGTGAGAAAGCAAGGTTTCCAATTGACCAGCTAGATTGGGAAGCAAACTTCGAAATAACTGAATATTGTCAGTATCACATTAGATTTTACTTTCCCAGAATAATTCAG... |
Task1_train_30487 | Here is a variant affecting CHM (CHM Rab escort protein) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Choroideremia | TTAAGAAACTCAGGGTTTCTACACAAAGTATAGTTGTAGTTAAAGCCAAAAGAAAAAACTATGACTCCATATTAGATTTAGGAATATTATCATGTATTTTACCTTAGCAATCAAATTTTTAATAATCTAAACATTTATATGATACTTTCCAATAAAGAAAATATGTAACTTACAAATTAATAAATTAAAACTAAAATAATTTAATTTGTAAATTAACCCCCAAATTAAAGTGAAGTTTTCAAATACTTCATTTGGGTAGCTCCCAAAAAACATAATTGATATTAGCCTCTGAGAACATAACAGGTTCATTATGTTAAGTG... | TTAAGAAACTCAGGGTTTCTACACAAAGTATAGTTGTAGTTAAAGCCAAAAGAAAAAACTATGACTCCATATTAGATTTAGGAATATTATCATGTATTTTACCTTAGCAATCAAATTTTTAATAATCTAAACATTTATATGATACTTTCCAATAAAGAAAATATGTAACTTACAAATTAATAAATTAAAACTAAAATAATTTAATTTGTAAATTAACCCCCAAATTAAAGTGAAGTTTTCAAATACTTCATTTGGGTAGCTCCCAAAAAACATAATTGATATTAGCCTCTGAGAACATAACAGGTTCATTATGTTAAGTG... |
Task1_train_30488 | A sequence alteration has been identified in CHM (CHM Rab escort protein) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; not provided | TTTGATCCACTCACAAACCTCATAGCTTACTGGGAGATACAGACAATAAACCAGTAATTGTAGGACAGTGGAGTAAGTAATATAATAGCTGCTGTACTATTTCTTCTACCCGCCCATGCTCATACTTGTCACTCTGAACTACAGTTGCTACTTATCAGTATCTGTATTCTCCAGACCGTAAGCTATTTGAGAGCAGAGATGCTATCATAGTGACCACTATCTCCTTAGAACCCAGCAACACTGGCTGGAAGGTAAAAGGCACTCATTGTTTGCTGAATGGCTTAATGAAAGTATTTATGCTTACACATATAACAAGTATA... | TTTGATCCACTCACAAACCTCATAGCTTACTGGGAGATACAGACAATAAACCAGTAATTGTAGGACAGTGGAGTAAGTAATATAATAGCTGCTGTACTATTTCTTCTACCCGCCCATGCTCATACTTGTCACTCTGAACTACAGTTGCTACTTATCAGTATCTGTATTCTCCAGACCGTAAGCTATTTGAGAGCAGAGATGCTATCATAGTGACCACTATCTCCTTAGAACCCAGCAACACTGGCTGGAAGGTAAAAGGCACTCATTGTTTGCTGAATGGCTTAATGAAAGTATTTATGCTTACACATATAACAAGTATA... |
Task1_train_30489 | This variant lies on Chromosome X and affects the gene PCDH19 (protocadherin 19). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 9 | TGACCCCACATTTTTCTCCTATAAAAATCGCCACTAGCAGTCACAGGTTTGAAAGCTAAGAGCAATATTAATTTACATTTCTCCCATCTGAAATGACTTGGTGCTGAAGGAAAGAAAAGTCATGGCCATTTCACTAGTAACAGGATTAAAGCATTTATGAGGCATTGCAGCTGCTCTTTTATGGCACCTGATTGATATTCATGTGTGGTTAGCATTTGTCTACTAACTTGTGTAACGCAGAGAATAGTAAAAGGGAAACAATAATTGCATGGCTGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGA... | TGACCCCACATTTTTCTCCTATAAAAATCGCCACTAGCAGTCACAGGTTTGAAAGCTAAGAGCAATATTAATTTACATTTCTCCCATCTGAAATGACTTGGTGCTGAAGGAAAGAAAAGTCATGGCCATTTCACTAGTAACAGGATTAAAGCATTTATGAGGCATTGCAGCTGCTCTTTTATGGCACCTGATTGATATTCATGTGTGGTTAGCATTTGTCTACTAACTTGTGTAACGCAGAGAATAGTAAAAGGGAAACAATAATTGCATGGCTGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGA... |
Task1_train_30490 | This variant impacts the gene PCDH19 (protocadherin 19) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Developmental and epileptic encephalopathy, 9 | TCTCCTATAAAAATCGCCACTAGCAGTCACAGGTTTGAAAGCTAAGAGCAATATTAATTTACATTTCTCCCATCTGAAATGACTTGGTGCTGAAGGAAAGAAAAGTCATGGCCATTTCACTAGTAACAGGATTAAAGCATTTATGAGGCATTGCAGCTGCTCTTTTATGGCACCTGATTGATATTCATGTGTGGTTAGCATTTGTCTACTAACTTGTGTAACGCAGAGAATAGTAAAAGGGAAACAATAATTGCATGGCTGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGACGGTGTCAAATACA... | TCTCCTATAAAAATCGCCACTAGCAGTCACAGGTTTGAAAGCTAAGAGCAATATTAATTTACATTTCTCCCATCTGAAATGACTTGGTGCTGAAGGAAAGAAAAGTCATGGCCATTTCACTAGTAACAGGATTAAAGCATTTATGAGGCATTGCAGCTGCTCTTTTATGGCACCTGATTGATATTCATGTGTGGTTAGCATTTGTCTACTAACTTGTGTAACGCAGAGAATAGTAAAAGGGAAACAATAATTGCATGGCTGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGACGGTGTCAAATACA... |
Task1_train_30491 | A change on Chromosome X affects gene PCDH19 (protocadherin 19). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 9 | CTCCTATAAAAATCGCCACTAGCAGTCACAGGTTTGAAAGCTAAGAGCAATATTAATTTACATTTCTCCCATCTGAAATGACTTGGTGCTGAAGGAAAGAAAAGTCATGGCCATTTCACTAGTAACAGGATTAAAGCATTTATGAGGCATTGCAGCTGCTCTTTTATGGCACCTGATTGATATTCATGTGTGGTTAGCATTTGTCTACTAACTTGTGTAACGCAGAGAATAGTAAAAGGGAAACAATAATTGCATGGCTGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGACGGTGTCAAATACAA... | CTCCTATAAAAATCGCCACTAGCAGTCACAGGTTTGAAAGCTAAGAGCAATATTAATTTACATTTCTCCCATCTGAAATGACTTGGTGCTGAAGGAAAGAAAAGTCATGGCCATTTCACTAGTAACAGGATTAAAGCATTTATGAGGCATTGCAGCTGCTCTTTTATGGCACCTGATTGATATTCATGTGTGGTTAGCATTTGTCTACTAACTTGTGTAACGCAGAGAATAGTAAAAGGGAAACAATAATTGCATGGCTGTTACATATTCAGGGGGCTCTGATTCACAGAAGTGTGCATTTCAGACGGTGTCAAATACAA... |
Task1_train_30492 | A variant affecting Chromosome X, within the gene PCDH19 (protocadherin 19), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Developmental and epileptic encephalopathy, 9 | TTGACTGATTAACATGCAGACACAAATGGCACAAAAGACACACTGATGTGTAGGTGTGTTGAAAGCACACACACACCTTGGTTGTAAATAGCAGCATCATTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTT... | TTGACTGATTAACATGCAGACACAAATGGCACAAAAGACACACTGATGTGTAGGTGTGTTGAAAGCACACACACACCTTGGTTGTAAATAGCAGCATCATTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTT... |
Task1_train_30493 | This is a variant in PCDH19 (protocadherin 19), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 9 | AGACACAAATGGCACAAAAGACACACTGATGTGTAGGTGTGTTGAAAGCACACACACACCTTGGTTGTAAATAGCAGCATCATTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATC... | AGACACAAATGGCACAAAAGACACACTGATGTGTAGGTGTGTTGAAAGCACACACACACCTTGGTTGTAAATAGCAGCATCATTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATC... |
Task1_train_30494 | A mutation found in PCDH19 (protocadherin 19) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy, 9 | CTGATGTGTAGGTGTGTTGAAAGCACACACACACCTTGGTTGTAAATAGCAGCATCATTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCA... | CTGATGTGTAGGTGTGTTGAAAGCACACACACACCTTGGTTGTAAATAGCAGCATCATTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCA... |
Task1_train_30495 | This variant affects gene PCDH19 (protocadherin 19) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy, 9 | TTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAAT... | TTCATTTTCAGCAAACTAAAGAAACAACTTTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAAT... |
Task1_train_30496 | The gene PCDH19 (protocadherin 19), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Developmental and epileptic encephalopathy, 9 | TTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAAC... | TTTTTCAACTGTTTCGATGAGACACTGCTGGAAAAAAAATGTCATGTATTATCCTAAATTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAAC... |
Task1_train_30497 | This gene mutation involves PCDH19 (protocadherin 19) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 9 | TTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAA... | TTGGATTCTAGGATTCTAGAAATGCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAA... |
Task1_train_30498 | Mutation context: Chromosome X, Gene PCDH19 (protocadherin 19). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 9 | GCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACAT... | GCTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACAT... |
Task1_train_30499 | Mutation context: Chromosome X, Gene PCDH19 (protocadherin 19). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 9 | CTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATC... | CTTAGACTTATGTGCTCTATCCAAATGTAAGAAAGGGCTTCAGTAAGACCTTCTAATGTGCTTATCAGGAAATCTTTTTAAAAAATACTGTGTTTCTTCTTTTCTCCCTTTTCCTCCCCCTTCTATCCCTCTCTCTCTCCCTCCCCCCCCCATACACACACAGACACACACACATCCTTCACACACTTCAAGAGAAACTGTAACACAATAGCCCACAGTGACATCCACTGGTAGGAACCAGATCTTAATGCCACAACACAGTCTCACATTAGAGGAAAGCATCATCAACTCTAGAAGATTGCTATTTTTACTGAAACATC... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.