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_29700 | The gene BCOR (BCL6 corepressor) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | AAATCTCGGAAAACCGATTCCGGAGGGTTGGGTCCTCGTAACGGGCTCTCTCATGGGACCGGGATCTCCTCTCTGGTTTCTCCTCTTTAGTAATCTCTATGGGCGTGTGTGGTATCAACATGGGATGCACCATGCCCAACCCCAGGGCATCTTGGTAGGTCACAAACTCTGGACGGCCGGTGGGAAGCCCATAGGGCAGCCCAGGCTTTGGGGCAAGGTGCCCAGGAAACAGACTGCCATTGGGTAACAAAACTGGGTGAGGGTAGACAGGTCCTTTGCCATGTAAGGAGAGGGGACTTACAGCAATGCCCTCAGGGGCT... | AAATCTCGGAAAACCGATTCCGGAGGGTTGGGTCCTCGTAACGGGCTCTCTCATGGGACCGGGATCTCCTCTCTGGTTTCTCCTCTTTAGTAATCTCTATGGGCGTGTGTGGTATCAACATGGGATGCACCATGCCCAACCCCAGGGCATCTTGGTAGGTCACAAACTCTGGACGGCCGGTGGGAAGCCCATAGGGCAGCCCAGGCTTTGGGGCAAGGTGCCCAGGAAACAGACTGCCATTGGGTAACAAAACTGGGTGAGGGTAGACAGGTCCTTTGCCATGTAAGGAGAGGGGACTTACAGCAATGCCCTCAGGGGCT... |
Task1_train_29701 | Given this context: Chromosome X, gene ATP6AP2 (ATPase H+ transporting accessory protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Congenital disorder of glycosylation, type IIr | CTCAGTTGAACCCAGGAATTTGAGACCAACCTGGGCAACATAGTGAGACTCCCATCTCAAAAATAAATGAATTAATTTTTTAAAAACCCATTTGTAGTTGGGAAGATTTTGGATGAGTGCTTCAAGCTTGGCTTCTGAAACAAATCATTAGAAATCATTAACTATATAATTATTTATTCATAGTAGTGAAATTCTTTGTATATTAGAGAATGCATCTGTCCTACTCTTAATAGGATATCTACTTTCTGGTTTTTTTTTTTTAGTATAGGCGATAGATTCACTATGAATGATAAAATATATATGCATTATGCCTGAGGTTA... | CTCAGTTGAACCCAGGAATTTGAGACCAACCTGGGCAACATAGTGAGACTCCCATCTCAAAAATAAATGAATTAATTTTTTAAAAACCCATTTGTAGTTGGGAAGATTTTGGATGAGTGCTTCAAGCTTGGCTTCTGAAACAAATCATTAGAAATCATTAACTATATAATTATTTATTCATAGTAGTGAAATTCTTTGTATATTAGAGAATGCATCTGTCCTACTCTTAATAGGATATCTACTTTCTGGTTTTTTTTTTTTAGTATAGGCGATAGATTCACTATGAATGATAAAATATATATGCATTATGCCTGAGGTTA... |
Task1_train_29702 | The following genetic variant occurs in USP9X (ubiquitin specific peptidase 9 X-linked) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | CGGGTTAGTTAACTACACTTCCTCACCCCACTCTTTTATTTTGAAAAGTTTCAAACCTACAGAAAAGATGAAGAAGAGGTATAATTATCACCTTTATGTTATATTCTTTATGCGGTTTTACTAATTAACATTTTGCCATATTTGCTTATCTTGCCATATGTGTGCTTGGTTTTTGGTTTATTTTTTTTTTAAGTTTTGTTTGTTTGTTTGTTTGTTTTTTGTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCCCTTCCTGGGTTCACACCATTCTC... | CGGGTTAGTTAACTACACTTCCTCACCCCACTCTTTTATTTTGAAAAGTTTCAAACCTACAGAAAAGATGAAGAAGAGGTATAATTATCACCTTTATGTTATATTCTTTATGCGGTTTTACTAATTAACATTTTGCCATATTTGCTTATCTTGCCATATGTGTGCTTGGTTTTTGGTTTATTTTTTTTTTAAGTTTTGTTTGTTTGTTTGTTTGTTTTTTGTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCCCTTCCTGGGTTCACACCATTCTC... |
Task1_train_29703 | The gene USP9X (ubiquitin specific peptidase 9 X-linked), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | ATGCCTGTCATATGGAAGTTTTACTTTGGGACTTGTTATAATATGGATTAATGTTGATTTGCAATCGTTTTTCACCAAAATGTCACAGTAAGATAGTATTTTCTACAATCCAAACTGTATTAAATATAGTCATGGGTTGAGTACACATGTGGTTTGTGGGGGTGTTTTGTTTTTGATTACCAGGAAATGATTGGGTGAGAGGTAATACTATATAAATGAGAAATTTCTAGCAAGTTATAGTCTTACCACTCATTCATAATTAGGGAATATACTTATTCACTTAGCCTAGGCAACTTTTAGTCCTTTTGAAAGGCCTTTTA... | ATGCCTGTCATATGGAAGTTTTACTTTGGGACTTGTTATAATATGGATTAATGTTGATTTGCAATCGTTTTTCACCAAAATGTCACAGTAAGATAGTATTTTCTACAATCCAAACTGTATTAAATATAGTCATGGGTTGAGTACACATGTGGTTTGTGGGGGTGTTTTGTTTTTGATTACCAGGAAATGATTGGGTGAGAGGTAATACTATATAAATGAGAAATTTCTAGCAAGTTATAGTCTTACCACTCATTCATAATTAGGGAATATACTTATTCACTTAGCCTAGGCAACTTTTAGTCCTTTTGAAAGGCCTTTTA... |
Task1_train_29704 | Here is a mutation in USP9X (ubiquitin specific peptidase 9 X-linked) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Intellectual disability, X-linked 99 | AGAAAAGGTGGTGGAATGCTTATATACTTTTTTATGAACGAATGGACACAATAGACCAAGATGATGAGTTGATAAGATATATATCAGAGCTTGCTATCACCACCAGACCTCATCAGATTATTATGCCATCAGCCATTGAGAGAAGTGTACGGAAACAGAACGTACAATTCATGCATAACCGAATGCAGTACAGTATGGAGTATTTTCAGTTTATGAAAAAACTGCTTACATGTAATGGCGTTTACTTAAACCCTCCTCCCGGTGAGTATCAAGAGAGTTTAGCTTCTTAGTAATAAAGAATAATTTATAGTAGGCGTCAA... | AGAAAAGGTGGTGGAATGCTTATATACTTTTTTATGAACGAATGGACACAATAGACCAAGATGATGAGTTGATAAGATATATATCAGAGCTTGCTATCACCACCAGACCTCATCAGATTATTATGCCATCAGCCATTGAGAGAAGTGTACGGAAACAGAACGTACAATTCATGCATAACCGAATGCAGTACAGTATGGAGTATTTTCAGTTTATGAAAAAACTGCTTACATGTAATGGCGTTTACTTAAACCCTCCTCCCGGTGAGTATCAAGAGAGTTTAGCTTCTTAGTAATAAAGAATAATTTATAGTAGGCGTCAA... |
Task1_train_29705 | Here is a mutation in DDX3X (DEAD-box helicase 3 X-linked) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; DDX3X-related disorder | ATTTGTGGCTCTACTGGGCAAGTGTCTTCCCACCAGTTAGTGTAGCTGTGCGGCGGCATTTACATATTATAATACATTGTTTTATTATAATCATTTTGCTTTCGTTTGTTGACAGATCATGTTTTTTGAAATTGTGTTTGTAGGTTTACATAAACAATTTAGGTTTTGTTATTTCAGTATAGGTAAAGGGGGCGTTAGAAAATACTCGTTATGAAAAGGAGTTGGGTCTTTCACAGGGTTATGGAATGTAGCAGACTCCTTTTATAGATGAGCAAATTGAGACCCAAAGCCGTTAAACAACTTGCCCCCGACAGTGTGAT... | ATTTGTGGCTCTACTGGGCAAGTGTCTTCCCACCAGTTAGTGTAGCTGTGCGGCGGCATTTACATATTATAATACATTGTTTTATTATAATCATTTTGCTTTCGTTTGTTGACAGATCATGTTTTTTGAAATTGTGTTTGTAGGTTTACATAAACAATTTAGGTTTTGTTATTTCAGTATAGGTAAAGGGGGCGTTAGAAAATACTCGTTATGAAAAGGAGTTGGGTCTTTCACAGGGTTATGGAATGTAGCAGACTCCTTTTATAGATGAGCAAATTGAGACCCAAAGCCGTTAAACAACTTGCCCCCGACAGTGTGAT... |
Task1_train_29706 | A mutation on Chromosome X affecting DDX3X (DEAD-box helicase 3 X-linked) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Inborn genetic diseases | ATTTGTGGCTCTACTGGGCAAGTGTCTTCCCACCAGTTAGTGTAGCTGTGCGGCGGCATTTACATATTATAATACATTGTTTTATTATAATCATTTTGCTTTCGTTTGTTGACAGATCATGTTTTTTGAAATTGTGTTTGTAGGTTTACATAAACAATTTAGGTTTTGTTATTTCAGTATAGGTAAAGGGGGCGTTAGAAAATACTCGTTATGAAAAGGAGTTGGGTCTTTCACAGGGTTATGGAATGTAGCAGACTCCTTTTATAGATGAGCAAATTGAGACCCAAAGCCGTTAAACAACTTGCCCCCGACAGTGTGAT... | ATTTGTGGCTCTACTGGGCAAGTGTCTTCCCACCAGTTAGTGTAGCTGTGCGGCGGCATTTACATATTATAATACATTGTTTTATTATAATCATTTTGCTTTCGTTTGTTGACAGATCATGTTTTTTGAAATTGTGTTTGTAGGTTTACATAAACAATTTAGGTTTTGTTATTTCAGTATAGGTAAAGGGGGCGTTAGAAAATACTCGTTATGAAAAGGAGTTGGGTCTTTCACAGGGTTATGGAATGTAGCAGACTCCTTTTATAGATGAGCAAATTGAGACCCAAAGCCGTTAAACAACTTGCCCCCGACAGTGTGAT... |
Task1_train_29707 | Located on Chromosome X, this mutation impacts DDX3X (DEAD-box helicase 3 X-linked). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Neurodevelopmental delay | TAACCGGCACTAAAACGAATCCTTTATCTATTTGACATTGAGGAATAATTTTGAGATTCAGTGTAAGCTTTAGTTTGGTGATTAGGGAGCCTGTGCTATGGAACATGTTAGTGAAAATTTATTTTGAATGCATGAATTAAATTTGGACAGTTTCTACTGAACAGCACAAGCATCTTGGTGTGCCGCCTTCTGTAGTATATACAATAGTAATATTGCATTTGCTTAGAGCATTGCAGACTTGAAAACATTCTTAGTCACATTCTCATTAAGGGTTGGTATTAGCCCTGTGAGGTGGACTGGGCAACTACTTGAATGCAGTA... | TAACCGGCACTAAAACGAATCCTTTATCTATTTGACATTGAGGAATAATTTTGAGATTCAGTGTAAGCTTTAGTTTGGTGATTAGGGAGCCTGTGCTATGGAACATGTTAGTGAAAATTTATTTTGAATGCATGAATTAAATTTGGACAGTTTCTACTGAACAGCACAAGCATCTTGGTGTGCCGCCTTCTGTAGTATATACAATAGTAATATTGCATTTGCTTAGAGCATTGCAGACTTGAAAACATTCTTAGTCACATTCTCATTAAGGGTTGGTATTAGCCCTGTGAGGTGGACTGGGCAACTACTTGAATGCAGTA... |
Task1_train_29708 | A variant found in Chromosome X affects DDX3X (DEAD-box helicase 3 X-linked). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Intellectual disability, X-linked 102 | CTTTGGGTTAATTTACATGTTTGTCATCCCCTTACCTGGATATTTATAGCTGTACCCAGGAACCTTGTCTATACTGAGAATATATAGTGATGAGGGTTTTTCTTTTTCCCAGGTATTCCTGATTGTCATCAAGCTTATAGTAGATGAACCACTAAAATAATACTACAATTTGACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAACCAAGTAATCTGACAGTCTATGAATGTTCTAAATGAATACCACCTCCAAGAAACATGGAAACAATGGTAACTGTTTTTCCTAGTAAACTCATTCA... | CTTTGGGTTAATTTACATGTTTGTCATCCCCTTACCTGGATATTTATAGCTGTACCCAGGAACCTTGTCTATACTGAGAATATATAGTGATGAGGGTTTTTCTTTTTCCCAGGTATTCCTGATTGTCATCAAGCTTATAGTAGATGAACCACTAAAATAATACTACAATTTGACATTAGTGTTCTTGTACTTTATACTATTGAAACTGAAAAATACTGTATTAAACCAAGTAATCTGACAGTCTATGAATGTTCTAAATGAATACCACCTCCAAGAAACATGGAAACAATGGTAACTGTTTTTCCTAGTAAACTCATTCA... |
Task1_train_29709 | A genomic change on Chromosome X affects DDX3X (DEAD-box helicase 3 X-linked). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAGTGGACAGTATTTTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATC... | CTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAGTGGACAGTATTTTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATC... |
Task1_train_29710 | This variant affects gene DDX3X (DEAD-box helicase 3 X-linked) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Neurodevelopmental disorder | GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAGTGGACAGTATTTTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATCTCGT... | GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAGTGGACAGTATTTTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATCTCGT... |
Task1_train_29711 | The variant affects gene DDX3X (DEAD-box helicase 3 X-linked), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Inborn genetic diseases | CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAGTGGACAGTATTTTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATCTCGTAG... | CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAGTGGACAGTATTTTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATCTCGTAG... |
Task1_train_29712 | This variant lies on Chromosome X and affects the gene DDX3X (DEAD-box helicase 3 X-linked). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | ACAGGCGTGAGCCACCATGCCTGGCCAGTGGACAGTATTTTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATCTCGTAGTGATTCAAGAGGGAAGTCT... | ACAGGCGTGAGCCACCATGCCTGGCCAGTGGACAGTATTTTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATCTCGTAGTGATTCAAGAGGGAAGTCT... |
Task1_train_29713 | This sequence change occurs on Chromosome X, altering DDX3X (DEAD-box helicase 3 X-linked). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CCAGTGGACAGTATTTTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATCTCGTAGTGATTCAAGAGGGAAGTCTAGCTTCTTCAGTGATCGTGGAAGT... | CCAGTGGACAGTATTTTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATCTCGTAGTGATTCAAGAGGGAAGTCTAGCTTCTTCAGTGATCGTGGAAGT... |
Task1_train_29714 | This alteration occurs within gene DDX3X (DEAD-box helicase 3 X-linked) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Intellectual disability, X-linked 102 | TTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATCTCGTAGTGATTCAAGAGGGAAGTCTAGCTTCTTCAGTGATCGTGGAAGTGGATCAAGGGGAAGG... | TTCTAGTGGGGAGAATTAAAGAAAAACTTTGTCCGGGTGTAAACCAGCTTTAAATCTTGGTTCTCTTACAGTGCCATGGTAGGGATAGTCAGTGGAGGCTTTCAAATTCAGAAAGATTGATAATACCTTAACATGGTTCCTATTTCTAATTAATAATAAAATGTATTTGTGCTTTTTTAATCAAAGGTTTCTACGATAAAGACAGTTCAGGGTGGAGTTCTAGCAAAGATAAGGATGCGTATAGCAGTTTTGGATCTCGTAGTGATTCAAGAGGGAAGTCTAGCTTCTTCAGTGATCGTGGAAGTGGATCAAGGGGAAGG... |
Task1_train_29715 | The following genetic variant occurs in DDX3X (DEAD-box helicase 3 X-linked) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | TCTGTCACACAGGTGAATTGTCCTTTAAGTGACATCCTAGTATAACTAGGACGATTGATATTTGGTGTGCTATTTTCTTGTTTTCCCTACCATTAAATATATTTGGATGAGCACTTTAAATGAAGGTTGTGAGCTGTGTGCCGATTTCAAATAAAATCCTTATTCTTAATTTTGGCATCTGTGAGGCCTTTTAGGCTATACAACTTTATAGAAATGTAAAGATTACTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCAAGTAACTCAGAATTGGATTGTTGACATCCTTATGGTTA... | TCTGTCACACAGGTGAATTGTCCTTTAAGTGACATCCTAGTATAACTAGGACGATTGATATTTGGTGTGCTATTTTCTTGTTTTCCCTACCATTAAATATATTTGGATGAGCACTTTAAATGAAGGTTGTGAGCTGTGTGCCGATTTCAAATAAAATCCTTATTCTTAATTTTGGCATCTGTGAGGCCTTTTAGGCTATACAACTTTATAGAAATGTAAAGATTACTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCAAGTAACTCAGAATTGGATTGTTGACATCCTTATGGTTA... |
Task1_train_29716 | The gene DDX3X (DEAD-box helicase 3 X-linked) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AGGTTGTGAGCTGTGTGCCGATTTCAAATAAAATCCTTATTCTTAATTTTGGCATCTGTGAGGCCTTTTAGGCTATACAACTTTATAGAAATGTAAAGATTACTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCAAGTAACTCAGAATTGGATTGTTGACATCCTTATGGTTAGCCATAACTTAAGTCTCCAGATACAGTTCTAGAGTAGGGATAAGAATCTGATAATGGTTAAATGATATGATTCTGATTAATTGCTTGTGCTGTTCAGGTTTGATGATCGTGGACGGAGTGATT... | AGGTTGTGAGCTGTGTGCCGATTTCAAATAAAATCCTTATTCTTAATTTTGGCATCTGTGAGGCCTTTTAGGCTATACAACTTTATAGAAATGTAAAGATTACTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCAAGTAACTCAGAATTGGATTGTTGACATCCTTATGGTTAGCCATAACTTAAGTCTCCAGATACAGTTCTAGAGTAGGGATAAGAATCTGATAATGGTTAAATGATATGATTCTGATTAATTGCTTGTGCTGTTCAGGTTTGATGATCGTGGACGGAGTGATT... |
Task1_train_29717 | This mutation occurs in DDX3X (DEAD-box helicase 3 X-linked) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | AGATTACTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCAAGTAACTCAGAATTGGATTGTTGACATCCTTATGGTTAGCCATAACTTAAGTCTCCAGATACAGTTCTAGAGTAGGGATAAGAATCTGATAATGGTTAAATGATATGATTCTGATTAATTGCTTGTGCTGTTCAGGTTTGATGATCGTGGACGGAGTGATTACGATGGCATTGGCAGCCGTGGTGACAGAAGTGGCTTTGGCAAATTTGAACGTGGTGGAAACAGTCGCTGGTGTGACAAATCAGATGAAGATGATT... | AGATTACTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCAAGTAACTCAGAATTGGATTGTTGACATCCTTATGGTTAGCCATAACTTAAGTCTCCAGATACAGTTCTAGAGTAGGGATAAGAATCTGATAATGGTTAAATGATATGATTCTGATTAATTGCTTGTGCTGTTCAGGTTTGATGATCGTGGACGGAGTGATTACGATGGCATTGGCAGCCGTGGTGACAGAAGTGGCTTTGGCAAATTTGAACGTGGTGGAAACAGTCGCTGGTGTGACAAATCAGATGAAGATGATT... |
Task1_train_29718 | A genetic alteration is present in DDX3X (DEAD-box helicase 3 X-linked) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Inborn genetic diseases | CTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCAAGTAACTCAGAATTGGATTGTTGACATCCTTATGGTTAGCCATAACTTAAGTCTCCAGATACAGTTCTAGAGTAGGGATAAGAATCTGATAATGGTTAAATGATATGATTCTGATTAATTGCTTGTGCTGTTCAGGTTTGATGATCGTGGACGGAGTGATTACGATGGCATTGGCAGCCGTGGTGACAGAAGTGGCTTTGGCAAATTTGAACGTGGTGGAAACAGTCGCTGGTGTGACAAATCAGATGAAGATGATTGGTCAA... | CTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCAAGTAACTCAGAATTGGATTGTTGACATCCTTATGGTTAGCCATAACTTAAGTCTCCAGATACAGTTCTAGAGTAGGGATAAGAATCTGATAATGGTTAAATGATATGATTCTGATTAATTGCTTGTGCTGTTCAGGTTTGATGATCGTGGACGGAGTGATTACGATGGCATTGGCAGCCGTGGTGACAGAAGTGGCTTTGGCAAATTTGAACGTGGTGGAAACAGTCGCTGGTGTGACAAATCAGATGAAGATGATTGGTCAA... |
Task1_train_29719 | With a mutation on Chromosome X in gene DDX3X (DEAD-box helicase 3 X-linked), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Intellectual disability, X-linked 102 | CTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCAAGTAACTCAGAATTGGATTGTTGACATCCTTATGGTTAGCCATAACTTAAGTCTCCAGATACAGTTCTAGAGTAGGGATAAGAATCTGATAATGGTTAAATGATATGATTCTGATTAATTGCTTGTGCTGTTCAGGTTTGATGATCGTGGACGGAGTGATTACGATGGCATTGGCAGCCGTGGTGACAGAAGTGGCTTTGGCAAATTTGAACGTGGTGGAAACAGTCGCTGGTGTGACAAATCAGATGAAGATGATTGGTCAA... | CTGATTTTAGAAAACGAGGTTATGTAAATGATGCTGGTTAGAGAGCCTTATTTGTCAAGTAACTCAGAATTGGATTGTTGACATCCTTATGGTTAGCCATAACTTAAGTCTCCAGATACAGTTCTAGAGTAGGGATAAGAATCTGATAATGGTTAAATGATATGATTCTGATTAATTGCTTGTGCTGTTCAGGTTTGATGATCGTGGACGGAGTGATTACGATGGCATTGGCAGCCGTGGTGACAGAAGTGGCTTTGGCAAATTTGAACGTGGTGGAAACAGTCGCTGGTGTGACAAATCAGATGAAGATGATTGGTCAA... |
Task1_train_29720 | This alteration occurs within gene DDX3X (DEAD-box helicase 3 X-linked) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CCATTGAATTTCTTAACAGTTCAGTGATGTTGAGATGGGAGAAATTATCATGGGAAACATTGAGCTTACTCGTTATACTCGCCCAACTCCAGTGCAAAAGCATGCTATTCCTATTATCAAAGAGAAAAGAGACTTGATGGCTTGTGCCCAAACAGGTAAGCTCAACTCATAAGAGTAAAACATCATATTTCTTCTGTAAAGGACTAGACAATAAAATATTTTATTTTTTATGGGTCATGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTAT... | CCATTGAATTTCTTAACAGTTCAGTGATGTTGAGATGGGAGAAATTATCATGGGAAACATTGAGCTTACTCGTTATACTCGCCCAACTCCAGTGCAAAAGCATGCTATTCCTATTATCAAAGAGAAAAGAGACTTGATGGCTTGTGCCCAAACAGGTAAGCTCAACTCATAAGAGTAAAACATCATATTTCTTCTGTAAAGGACTAGACAATAAAATATTTTATTTTTTATGGGTCATGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTAT... |
Task1_train_29721 | A variant was discovered on Chromosome X, affecting DDX3X (DEAD-box helicase 3 X-linked). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability, X-linked 102 | GGGAGAAATTATCATGGGAAACATTGAGCTTACTCGTTATACTCGCCCAACTCCAGTGCAAAAGCATGCTATTCCTATTATCAAAGAGAAAAGAGACTTGATGGCTTGTGCCCAAACAGGTAAGCTCAACTCATAAGAGTAAAACATCATATTTCTTCTGTAAAGGACTAGACAATAAAATATTTTATTTTTTATGGGTCATGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTT... | GGGAGAAATTATCATGGGAAACATTGAGCTTACTCGTTATACTCGCCCAACTCCAGTGCAAAAGCATGCTATTCCTATTATCAAAGAGAAAAGAGACTTGATGGCTTGTGCCCAAACAGGTAAGCTCAACTCATAAGAGTAAAACATCATATTTCTTCTGTAAAGGACTAGACAATAAAATATTTTATTTTTTATGGGTCATGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTT... |
Task1_train_29722 | Assess the clinical impact of this variant on gene DDX3X (DEAD-box helicase 3 X-linked), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | GAAACATTGAGCTTACTCGTTATACTCGCCCAACTCCAGTGCAAAAGCATGCTATTCCTATTATCAAAGAGAAAAGAGACTTGATGGCTTGTGCCCAAACAGGTAAGCTCAACTCATAAGAGTAAAACATCATATTTCTTCTGTAAAGGACTAGACAATAAAATATTTTATTTTTTATGGGTCATGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTTATTTACAAAATAGTCTC... | GAAACATTGAGCTTACTCGTTATACTCGCCCAACTCCAGTGCAAAAGCATGCTATTCCTATTATCAAAGAGAAAAGAGACTTGATGGCTTGTGCCCAAACAGGTAAGCTCAACTCATAAGAGTAAAACATCATATTTCTTCTGTAAAGGACTAGACAATAAAATATTTTATTTTTTATGGGTCATGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTTATTTACAAAATAGTCTC... |
Task1_train_29723 | This variant impacts the gene DDX3X (DEAD-box helicase 3 X-linked) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Intellectual disability, X-linked 102 | CATTGAGCTTACTCGTTATACTCGCCCAACTCCAGTGCAAAAGCATGCTATTCCTATTATCAAAGAGAAAAGAGACTTGATGGCTTGTGCCCAAACAGGTAAGCTCAACTCATAAGAGTAAAACATCATATTTCTTCTGTAAAGGACTAGACAATAAAATATTTTATTTTTTATGGGTCATGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTTATTTACAAAATAGTCTCAGTT... | CATTGAGCTTACTCGTTATACTCGCCCAACTCCAGTGCAAAAGCATGCTATTCCTATTATCAAAGAGAAAAGAGACTTGATGGCTTGTGCCCAAACAGGTAAGCTCAACTCATAAGAGTAAAACATCATATTTCTTCTGTAAAGGACTAGACAATAAAATATTTTATTTTTTATGGGTCATGCAGTTTTGCAGCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTTATTTACAAAATAGTCTCAGTT... |
Task1_train_29724 | A genomic change on Chromosome X affects DDX3X (DEAD-box helicase 3 X-linked). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Intellectual disability, X-linked 102 | GCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTTATTTACAAAATAGTCTCAGTTTGCTGACTCCTCTTAGAGGTGGAGCAGAGAAGCCACTTTTTGGAAAACTTAAGCATAAACTAAAAGTACTAATTATTAGTAATAGGGTAGTTAAAAAACACTGTCATCTACCAATGTCTGTTTAAAAGTAATGAGCAGGATTTGTTTGTTTGTTTTTGAACAGGGTCTGGAAAAACTGCAGCATTTCTGTTG... | GCTGCTCTGCGCTGCTATTGGACTGTGAAAGAAGCCATAGATGATACATAAATTATTGGTTACGGCTGTATTCCGTAAGAGCTTTATTTATAAAAATAACAGGCTTTATTTACAAAATAGTCTCAGTTTGCTGACTCCTCTTAGAGGTGGAGCAGAGAAGCCACTTTTTGGAAAACTTAAGCATAAACTAAAAGTACTAATTATTAGTAATAGGGTAGTTAAAAAACACTGTCATCTACCAATGTCTGTTTAAAAGTAATGAGCAGGATTTGTTTGTTTGTTTTTGAACAGGGTCTGGAAAAACTGCAGCATTTCTGTTG... |
Task1_train_29725 | This mutation is located in gene DDX3X (DEAD-box helicase 3 X-linked) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Intellectual disability, X-linked 102 | GTCAGCAGATTCGAGACTTGGAACGTGGATGCCATTTGTTAGTAGCCACTCCAGGACGTCTAGTGGATATGATGGAAAGAGGAAAGATTGGATTAGACTTTTGCAAGTATGTTTTATTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTCTTTTGTTTTTGGCAGAGTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTAT... | GTCAGCAGATTCGAGACTTGGAACGTGGATGCCATTTGTTAGTAGCCACTCCAGGACGTCTAGTGGATATGATGGAAAGAGGAAAGATTGGATTAGACTTTTGCAAGTATGTTTTATTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTCTTTTGTTTTTGGCAGAGTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTAT... |
Task1_train_29726 | A variant has been detected on Chromosome X in DDX3X (DEAD-box helicase 3 X-linked). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TCGAGACTTGGAACGTGGATGCCATTTGTTAGTAGCCACTCCAGGACGTCTAGTGGATATGATGGAAAGAGGAAAGATTGGATTAGACTTTTGCAAGTATGTTTTATTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTCTTTTGTTTTTGGCAGAGTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGA... | TCGAGACTTGGAACGTGGATGCCATTTGTTAGTAGCCACTCCAGGACGTCTAGTGGATATGATGGAAAGAGGAAAGATTGGATTAGACTTTTGCAAGTATGTTTTATTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTCTTTTGTTTTTGGCAGAGTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGA... |
Task1_train_29727 | Given a variant located on Chromosome X and affecting DDX3X (DEAD-box helicase 3 X-linked), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Intellectual disability, X-linked 102 | GGAACGTGGATGCCATTTGTTAGTAGCCACTCCAGGACGTCTAGTGGATATGATGGAAAGAGGAAAGATTGGATTAGACTTTTGCAAGTATGTTTTATTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTCTTTTGTTTTTGGCAGAGTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTT... | GGAACGTGGATGCCATTTGTTAGTAGCCACTCCAGGACGTCTAGTGGATATGATGGAAAGAGGAAAGATTGGATTAGACTTTTGCAAGTATGTTTTATTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTCTTTTGTTTTTGGCAGAGTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTT... |
Task1_train_29728 | Mutation context: Chromosome X, Gene DDX3X (DEAD-box helicase 3 X-linked). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Intellectual disability, X-linked 102 | TTTGTTAGTAGCCACTCCAGGACGTCTAGTGGATATGATGGAAAGAGGAAAGATTGGATTAGACTTTTGCAAGTATGTTTTATTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTCTTTTGTTTTTGGCAGAGTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCA... | TTTGTTAGTAGCCACTCCAGGACGTCTAGTGGATATGATGGAAAGAGGAAAGATTGGATTAGACTTTTGCAAGTATGTTTTATTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTCTTTTGTTTTTGGCAGAGTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCA... |
Task1_train_29729 | A variant affecting Chromosome X, within the gene DDX3X (DEAD-box helicase 3 X-linked), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GGATATGATGGAAAGAGGAAAGATTGGATTAGACTTTTGCAAGTATGTTTTATTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTCTTTTGTTTTTGGCAGAGTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGA... | GGATATGATGGAAAGAGGAAAGATTGGATTAGACTTTTGCAAGTATGTTTTATTTTGTTTTTGTTTTTTTGTTTTGTTTTGTTTTGTTCTTTTGTTTTTGGCAGAGTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGA... |
Task1_train_29730 | A genomic change on Chromosome X affects DDX3X (DEAD-box helicase 3 X-linked). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTAC... | GTTGCGCTCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTAC... |
Task1_train_29731 | Given this variant in gene DDX3X (DEAD-box helicase 3 X-linked) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Intellectual disability, X-linked 102 | TCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCAT... | TCTTGTTGCCCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCAT... |
Task1_train_29732 | A variant on Chromosome X in gene DDX3X (DEAD-box helicase 3 X-linked) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Intellectual disability, X-linked 102 | CCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCATTAGTTTTGT... | CCAGGCTGGAGTGCCATGGCGCGATCTCGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCATTAGTTTTGT... |
Task1_train_29733 | This sequence change occurs on Chromosome X, altering DDX3X (DEAD-box helicase 3 X-linked). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Intellectual disability, X-linked 102 | TCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCATTAGTTTTGTGGTGATGTTAACATTGTCTAAATGTTAAGGCTGAGAAGTGATGTATTTCAGACATCTAACTTTCACAAAAAGCTTGTTCA... | TCCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCATTAGTTTTGTGGTGATGTTAACATTGTCTAAATGTTAAGGCTGAGAAGTGATGTATTTCAGACATCTAACTTTCACAAAAAGCTTGTTCA... |
Task1_train_29734 | Mutation context: Chromosome X, Gene DDX3X (DEAD-box helicase 3 X-linked). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCATTAGTTTTGTGGTGATGTTAACATTGTCTAAATGTTAAGGCTGAGAAGTGATGTATTTCAGACATCTAACTTTCACAAAAAGCTTGTTCAT... | CCCAGGTAGCTGGGATTACAGGCATGTGCCACCACGCTGGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCGCACCCGGCCAAGTATGTTAATTTTTAAATGTATGGGATGCAGTATTAAAGTTACTGCCCATTAGTTTTGTGGTGATGTTAACATTGTCTAAATGTTAAGGCTGAGAAGTGATGTATTTCAGACATCTAACTTTCACAAAAAGCTTGTTCAT... |
Task1_train_29735 | Gene DDX3X (DEAD-box helicase 3 X-linked), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Intellectual disability, X-linked 102 | AAATCAGTAACATCTTGGTTGAGACTTACAACAATGATCAGCTCGTGGGACAGTCAACTAGGATGGGCTAATTTGACTGTGTAATCTTGAATGACTTATGTAGTGGCAAGAATCCTGTGCTGTGTCTGTAAAATTATGCAGTGTGAGGCACCATCTTAATGAATATATAATTGTAATAACCTATACAATTGTATTTGTAATTATACTAACAGCCATACTAAAACCATGTTGATTTCTCCTCAAATTCTAAACTCAGGCTTGTTTTTTTTCATGACATGACAGATACTTGGTGTTAGATGAAGCTGATCGGATGTTGGATA... | AAATCAGTAACATCTTGGTTGAGACTTACAACAATGATCAGCTCGTGGGACAGTCAACTAGGATGGGCTAATTTGACTGTGTAATCTTGAATGACTTATGTAGTGGCAAGAATCCTGTGCTGTGTCTGTAAAATTATGCAGTGTGAGGCACCATCTTAATGAATATATAATTGTAATAACCTATACAATTGTATTTGTAATTATACTAACAGCCATACTAAAACCATGTTGATTTCTCCTCAAATTCTAAACTCAGGCTTGTTTTTTTTCATGACATGACAGATACTTGGTGTTAGATGAAGCTGATCGGATGTTGGATA... |
Task1_train_29736 | This variant affects gene DDX3X (DEAD-box helicase 3 X-linked) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Inborn genetic diseases | AAATCAGTAACATCTTGGTTGAGACTTACAACAATGATCAGCTCGTGGGACAGTCAACTAGGATGGGCTAATTTGACTGTGTAATCTTGAATGACTTATGTAGTGGCAAGAATCCTGTGCTGTGTCTGTAAAATTATGCAGTGTGAGGCACCATCTTAATGAATATATAATTGTAATAACCTATACAATTGTATTTGTAATTATACTAACAGCCATACTAAAACCATGTTGATTTCTCCTCAAATTCTAAACTCAGGCTTGTTTTTTTTCATGACATGACAGATACTTGGTGTTAGATGAAGCTGATCGGATGTTGGATA... | AAATCAGTAACATCTTGGTTGAGACTTACAACAATGATCAGCTCGTGGGACAGTCAACTAGGATGGGCTAATTTGACTGTGTAATCTTGAATGACTTATGTAGTGGCAAGAATCCTGTGCTGTGTCTGTAAAATTATGCAGTGTGAGGCACCATCTTAATGAATATATAATTGTAATAACCTATACAATTGTATTTGTAATTATACTAACAGCCATACTAAAACCATGTTGATTTCTCCTCAAATTCTAAACTCAGGCTTGTTTTTTTTCATGACATGACAGATACTTGGTGTTAGATGAAGCTGATCGGATGTTGGATA... |
Task1_train_29737 | This variant affects gene NYX (nyctalopin) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Congenital stationary night blindness 1A | TTGTTTAATCCTAAATGGGTCCTGTTAAGAATTATTTCATAATCTTGTCATGCTTTAAGGCCCAGGAAAGGCTTGGGCAAAACTCTTGGTGGGCTTTTGTTACCTTCCAGCCTTTGTATAAGGGCACTGGTGTATATATATATATGTATTTTTTTTTTTTTTTCCCCTGGGGTAACTGGTTCTTTAGCAAGAGGGGAGCACTGGGGAGTATCTTCAGGGTGGCTGAACTTTGCAACCTCTTTAATAAACAACTTCCCCCTGTGCAGTTTGTCCTCCTTTATCACCACACTCCGATGCCCTGGTATTCAGGCAATGGCATC... | TTGTTTAATCCTAAATGGGTCCTGTTAAGAATTATTTCATAATCTTGTCATGCTTTAAGGCCCAGGAAAGGCTTGGGCAAAACTCTTGGTGGGCTTTTGTTACCTTCCAGCCTTTGTATAAGGGCACTGGTGTATATATATATATGTATTTTTTTTTTTTTTTCCCCTGGGGTAACTGGTTCTTTAGCAAGAGGGGAGCACTGGGGAGTATCTTCAGGGTGGCTGAACTTTGCAACCTCTTTAATAAACAACTTCCCCCTGTGCAGTTTGTCCTCCTTTATCACCACACTCCGATGCCCTGGTATTCAGGCAATGGCATC... |
Task1_train_29738 | With a mutation on Chromosome X in gene NYX (nyctalopin), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Congenital stationary night blindness 1A | CTGTTAAGAATTATTTCATAATCTTGTCATGCTTTAAGGCCCAGGAAAGGCTTGGGCAAAACTCTTGGTGGGCTTTTGTTACCTTCCAGCCTTTGTATAAGGGCACTGGTGTATATATATATATGTATTTTTTTTTTTTTTTCCCCTGGGGTAACTGGTTCTTTAGCAAGAGGGGAGCACTGGGGAGTATCTTCAGGGTGGCTGAACTTTGCAACCTCTTTAATAAACAACTTCCCCCTGTGCAGTTTGTCCTCCTTTATCACCACACTCCGATGCCCTGGTATTCAGGCAATGGCATCAGGCCCATATTTCCGTAGAGT... | CTGTTAAGAATTATTTCATAATCTTGTCATGCTTTAAGGCCCAGGAAAGGCTTGGGCAAAACTCTTGGTGGGCTTTTGTTACCTTCCAGCCTTTGTATAAGGGCACTGGTGTATATATATATATGTATTTTTTTTTTTTTTTCCCCTGGGGTAACTGGTTCTTTAGCAAGAGGGGAGCACTGGGGAGTATCTTCAGGGTGGCTGAACTTTGCAACCTCTTTAATAAACAACTTCCCCCTGTGCAGTTTGTCCTCCTTTATCACCACACTCCGATGCCCTGGTATTCAGGCAATGGCATCAGGCCCATATTTCCGTAGAGT... |
Task1_train_29739 | Here is a variant affecting NYX (nyctalopin) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CCTTCCAATGGGATCTTAGAATTCTTAGAGTTGCAGAATTTTACTGACTAGACTCAGGAGGTCTCAGGAGTCCAGACTTCCTTAAAGCTTGGCTCAAAATTCCAAGGGAGCTCATAACTCCATGGAGCCCAGAGTTCCTGGCTCGGGAACATTGGGAGGCCTGGGATACAGTGGCTTAGCCTCAAGCAAAAAGGTGAACAATATCTTTATGGCTTGAAGGTATACGAAATAATGTCACTACATCGGAGCAGCGCCTCTGCTTGCACACCTATGGGAGTCTGTAGCTGTGACACATAGAAGTTGGCCACATCCATGTCGGT... | CCTTCCAATGGGATCTTAGAATTCTTAGAGTTGCAGAATTTTACTGACTAGACTCAGGAGGTCTCAGGAGTCCAGACTTCCTTAAAGCTTGGCTCAAAATTCCAAGGGAGCTCATAACTCCATGGAGCCCAGAGTTCCTGGCTCGGGAACATTGGGAGGCCTGGGATACAGTGGCTTAGCCTCAAGCAAAAAGGTGAACAATATCTTTATGGCTTGAAGGTATACGAAATAATGTCACTACATCGGAGCAGCGCCTCTGCTTGCACACCTATGGGAGTCTGTAGCTGTGACACATAGAAGTTGGCCACATCCATGTCGGT... |
Task1_train_29740 | A change on Chromosome X affects gene NYX (nyctalopin). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Congenital stationary night blindness | ATTGGGAGGCCTGGGATACAGTGGCTTAGCCTCAAGCAAAAAGGTGAACAATATCTTTATGGCTTGAAGGTATACGAAATAATGTCACTACATCGGAGCAGCGCCTCTGCTTGCACACCTATGGGAGTCTGTAGCTGTGACACATAGAAGTTGGCCACATCCATGTCGGTGGCTCCAAAGTGGGTGGCCACACGCACACCCTCGTGCAATGTGAAGCTCACCTGATGACTCACCATGGCCAGCAGGCCGCGGAGGTAACGATCCCGAAGGGCGGCTCGGGCCCGCTGCTTCTGGGATTCCAAGGATTCTTGAGCTATGGA... | ATTGGGAGGCCTGGGATACAGTGGCTTAGCCTCAAGCAAAAAGGTGAACAATATCTTTATGGCTTGAAGGTATACGAAATAATGTCACTACATCGGAGCAGCGCCTCTGCTTGCACACCTATGGGAGTCTGTAGCTGTGACACATAGAAGTTGGCCACATCCATGTCGGTGGCTCCAAAGTGGGTGGCCACACGCACACCCTCGTGCAATGTGAAGCTCACCTGATGACTCACCATGGCCAGCAGGCCGCGGAGGTAACGATCCCGAAGGGCGGCTCGGGCCCGCTGCTTCTGGGATTCCAAGGATTCTTGAGCTATGGA... |
Task1_train_29741 | With a mutation on Chromosome X in gene CASK, CASK-AS1 (calcium/calmodulin dependent serine protein kinase| CASK antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; FG syndrome 4 | TGAAGGTTTCTCTCTCTATCTAGTGTGAGACCACTGTTGAGCTTATCTCTGGTTTGGTGGCTTGGTCACCCCACTGTGGGGCCCATACAGAAGTAGTTCACTCAATACCTTGTTAGTAAGTTGCAGACTCATCTGGTCACTGGCAAAGAACAACATCAGAAAAAAAAAAATCGCCACCATTTAATAATAGGCGGTGGGGGGCGGAGGCGGGTATGGTGTTGACAATGTAAAAGAAGTATACTAATGCCTTCTCTGTTTGGTCCTTTAAGAGGAGCTGTTCAGCTCAGAACACACCCTGCACATCCTGCCAAGGCACAAAG... | TGAAGGTTTCTCTCTCTATCTAGTGTGAGACCACTGTTGAGCTTATCTCTGGTTTGGTGGCTTGGTCACCCCACTGTGGGGCCCATACAGAAGTAGTTCACTCAATACCTTGTTAGTAAGTTGCAGACTCATCTGGTCACTGGCAAAGAACAACATCAGAAAAAAAAAAATCGCCACCATTTAATAATAGGCGGTGGGGGGCGGAGGCGGGTATGGTGTTGACAATGTAAAAGAAGTATACTAATGCCTTCTCTGTTTGGTCCTTTAAGAGGAGCTGTTCAGCTCAGAACACACCCTGCACATCCTGCCAAGGCACAAAG... |
Task1_train_29742 | A variant affecting Chromosome X, within the gene CASK (calcium/calmodulin dependent serine protein kinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Syndromic X-linked intellectual disability Najm type | CCAGGGCCGCTGGCCCAAAGAGACTCAGGCAGCCAGGATGCCTATGGCCGGCCCTCAGGGCTAGGTGGATCTGAGAGATCACAGTTCTGAGAGGCAGGGACCCAGGAAGCAGGAGAGAAGAGTGCAGGTGAGCTCATCCAGCACTCAGGGGAGCAGAGGAGAGTGCCCAGCCGGGGTGAGGAGGTGCTTTGGGGCCAAGTGCAATGGGTAAAAGTAACTGCTGTGGGTGTCCTGAGGAGGCTGAGAGAAGTGTCTCCCACTCAGCAGTGCAGAGCAATGCATGGCTGTGCAAGGGCAAGGAGAAAGGGAGAGCTGGACGC... | CCAGGGCCGCTGGCCCAAAGAGACTCAGGCAGCCAGGATGCCTATGGCCGGCCCTCAGGGCTAGGTGGATCTGAGAGATCACAGTTCTGAGAGGCAGGGACCCAGGAAGCAGGAGAGAAGAGTGCAGGTGAGCTCATCCAGCACTCAGGGGAGCAGAGGAGAGTGCCCAGCCGGGGTGAGGAGGTGCTTTGGGGCCAAGTGCAATGGGTAAAAGTAACTGCTGTGGGTGTCCTGAGGAGGCTGAGAGAAGTGTCTCCCACTCAGCAGTGCAGAGCAATGCATGGCTGTGCAAGGGCAAGGAGAAAGGGAGAGCTGGACGC... |
Task1_train_29743 | Consider a variant on Chromosome X in gene CASK (calcium/calmodulin dependent serine protein kinase). Determine its clinical classification and disease relevance. | Pathogenic; Syndromic X-linked intellectual disability Najm type | AAAATATGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAGGAGGTAGAGGTTGCAGTGACCTGAGATCATGCCATTGCACTGCAGCCTGGGCCACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTGGTCACTGAGCTCCCCAGTACCTTTTTTTATTTCCCGGACACAGAGTCTCACTCTGTCGTCCAGGCTAGAGTGCAGTGGCGCGATCACGGCTCACTGCAACTTCCACTTCTCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAA... | AAAATATGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAGGAGGTAGAGGTTGCAGTGACCTGAGATCATGCCATTGCACTGCAGCCTGGGCCACAGGGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTGGTCACTGAGCTCCCCAGTACCTTTTTTTATTTCCCGGACACAGAGTCTCACTCTGTCGTCCAGGCTAGAGTGCAGTGGCGCGATCACGGCTCACTGCAACTTCCACTTCTCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAA... |
Task1_train_29744 | Gene CASK (calcium/calmodulin dependent serine protein kinase) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | GCAGAGTTGATTGCTTGCTTGTTGGTGGGAAGAAATCTCCACACTTCTGGTCACAGAAGTCTTCTGTATTGATTGTTGCTGTGTGGTGTGAGAGCAGTTTGAGTTTTTTCAGCTTCAACAGAGAAAAAGAGGAGGAGCAAGGATGGAGGCCTATGGCATTCCAGTGTGAAGAGGTGGGAGAGGGGAGATGAGGAAGAATCAGTAGGATCTGAGAAGGAGCAGCCAGGAGGTAGAAGGACAACCAAGAGAGCAGGTGTTCCAGAAGCCCAGAGAAGACAGTGTTTCAGAAGGATGGATGTCAAATGTTGCTGACAGGCCAA... | GCAGAGTTGATTGCTTGCTTGTTGGTGGGAAGAAATCTCCACACTTCTGGTCACAGAAGTCTTCTGTATTGATTGTTGCTGTGTGGTGTGAGAGCAGTTTGAGTTTTTTCAGCTTCAACAGAGAAAAAGAGGAGGAGCAAGGATGGAGGCCTATGGCATTCCAGTGTGAAGAGGTGGGAGAGGGGAGATGAGGAAGAATCAGTAGGATCTGAGAAGGAGCAGCCAGGAGGTAGAAGGACAACCAAGAGAGCAGGTGTTCCAGAAGCCCAGAGAAGACAGTGTTTCAGAAGGATGGATGTCAAATGTTGCTGACAGGCCAA... |
Task1_train_29745 | Located on Chromosome X, this mutation impacts CASK (calcium/calmodulin dependent serine protein kinase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Developmental disorder | CATTCTAAATACCAACAGGATATAGATCCAGAGCAACAGAAACAAAGTCATTATATATGGCCAGTATATAACATATAAAATAAATTCATTTCATTTCATCCCATTAACCTTGGTAATATAATCATCAGAAATTATTTGTTATAATTACGTAGTCTTAACATAGAAATGATCTGTATAAGTACCAGAATTGAGAGAGTTAGCTTAACAGTGACATTTGTTTAAAAAATAATTTAGGATTTTCACTTGATTACAAGATCAGTATGAACCATCAGTGCTATGTAGTTGTCCAAAAAGCTAATGCAATTTGGGGAACTCGAGGG... | CATTCTAAATACCAACAGGATATAGATCCAGAGCAACAGAAACAAAGTCATTATATATGGCCAGTATATAACATATAAAATAAATTCATTTCATTTCATCCCATTAACCTTGGTAATATAATCATCAGAAATTATTTGTTATAATTACGTAGTCTTAACATAGAAATGATCTGTATAAGTACCAGAATTGAGAGAGTTAGCTTAACAGTGACATTTGTTTAAAAAATAATTTAGGATTTTCACTTGATTACAAGATCAGTATGAACCATCAGTGCTATGTAGTTGTCCAAAAAGCTAATGCAATTTGGGGAACTCGAGGG... |
Task1_train_29746 | The gene CASK (calcium/calmodulin dependent serine protein kinase) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; FG syndrome 4 | TCATTTAATATCTATACGCTGTGGTCCTACCATATAGGAAGGATATGAAAAGAGTACATGATTCTATTAAGTTCAAGGAGGCTTAAGAGTATGAGGGATCAATAGAATGGGTGGCTTTGTCTTCAGAATAGGACTTGAAGACATTTATATAGCCAAAGCAATGGCAAAGTAATGAAGGAGTGAGCTATAACTTCAGCAACAGACTCCCATATATTATATTAAATGAAGACAGGACTTAATACCAGGTATATGAACTATATACTAAGTACTTTCCCCTTTTGTAAATTTGGAATTTGACTCCCTGACCAAGTGACAAGAGA... | TCATTTAATATCTATACGCTGTGGTCCTACCATATAGGAAGGATATGAAAAGAGTACATGATTCTATTAAGTTCAAGGAGGCTTAAGAGTATGAGGGATCAATAGAATGGGTGGCTTTGTCTTCAGAATAGGACTTGAAGACATTTATATAGCCAAAGCAATGGCAAAGTAATGAAGGAGTGAGCTATAACTTCAGCAACAGACTCCCATATATTATATTAAATGAAGACAGGACTTAATACCAGGTATATGAACTATATACTAAGTACTTTCCCCTTTTGTAAATTTGGAATTTGACTCCCTGACCAAGTGACAAGAGA... |
Task1_train_29747 | A variant affecting Chromosome X, within the gene CASK (calcium/calmodulin dependent serine protein kinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CAGTCATTTGGAGGCTTTTGGGAAACACCTAATTTATCTTCACTGGGTGCTCCTAAGAATGAGGAAACCAAGGAGATTTTTGATGCATTTTTCTCTCTAGAACTGTGCTATTCACATGTGGCTACTGGGCACCTGAAACGTGGCTGGTCCGACTGGGAAACTGAATTTTGAATTGTATTTAATTTTAATTAATTAAAATTTAAATTTAGAAAAAGGTACTTGATTCGGTTATTGGAAAACTTTTATGTATATTGGGAACAACTTGGGTATGTGAATATACTTTTGCAAACGCAAATTTTATGAAACCTAAATACAGATTA... | CAGTCATTTGGAGGCTTTTGGGAAACACCTAATTTATCTTCACTGGGTGCTCCTAAGAATGAGGAAACCAAGGAGATTTTTGATGCATTTTTCTCTCTAGAACTGTGCTATTCACATGTGGCTACTGGGCACCTGAAACGTGGCTGGTCCGACTGGGAAACTGAATTTTGAATTGTATTTAATTTTAATTAATTAAAATTTAAATTTAGAAAAAGGTACTTGATTCGGTTATTGGAAAACTTTTATGTATATTGGGAACAACTTGGGTATGTGAATATACTTTTGCAAACGCAAATTTTATGAAACCTAAATACAGATTA... |
Task1_train_29748 | Consider this mutation in CASK (calcium/calmodulin dependent serine protein kinase) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | CAGTCATTTGGAGGCTTTTGGGAAACACCTAATTTATCTTCACTGGGTGCTCCTAAGAATGAGGAAACCAAGGAGATTTTTGATGCATTTTTCTCTCTAGAACTGTGCTATTCACATGTGGCTACTGGGCACCTGAAACGTGGCTGGTCCGACTGGGAAACTGAATTTTGAATTGTATTTAATTTTAATTAATTAAAATTTAAATTTAGAAAAAGGTACTTGATTCGGTTATTGGAAAACTTTTATGTATATTGGGAACAACTTGGGTATGTGAATATACTTTTGCAAACGCAAATTTTATGAAACCTAAATACAGATTA... | CAGTCATTTGGAGGCTTTTGGGAAACACCTAATTTATCTTCACTGGGTGCTCCTAAGAATGAGGAAACCAAGGAGATTTTTGATGCATTTTTCTCTCTAGAACTGTGCTATTCACATGTGGCTACTGGGCACCTGAAACGTGGCTGGTCCGACTGGGAAACTGAATTTTGAATTGTATTTAATTTTAATTAATTAAAATTTAAATTTAGAAAAAGGTACTTGATTCGGTTATTGGAAAACTTTTATGTATATTGGGAACAACTTGGGTATGTGAATATACTTTTGCAAACGCAAATTTTATGAAACCTAAATACAGATTA... |
Task1_train_29749 | A genomic change on Chromosome X affects MAOA (monoamine oxidase A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Brunner syndrome | TTTAATTTAATTTTTGAGACAGAGTCTTGCTTTGTTGCCTAGCCTGGTCTCCAACTCCTGGGCTCAAGCAGTCCTTCCGCCTCAGCCTCTCAAAGTGCTAAGATCACAGGCATGAGCCACCATGCCTAGCCAGGAATATTTTTTATAAAGAACTTTGGTGTTGTTATTAAAACAGTAGCCAGTTACAAAAGTGCAAAAATCACTGCGTGGCTGCTTATGCAGTTTTCTGGAGGAGTATGATTGAGGAATCTGTTAGGAATCTTCTGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTTGGAGGCCAAGGAGG... | TTTAATTTAATTTTTGAGACAGAGTCTTGCTTTGTTGCCTAGCCTGGTCTCCAACTCCTGGGCTCAAGCAGTCCTTCCGCCTCAGCCTCTCAAAGTGCTAAGATCACAGGCATGAGCCACCATGCCTAGCCAGGAATATTTTTTATAAAGAACTTTGGTGTTGTTATTAAAACAGTAGCCAGTTACAAAAGTGCAAAAATCACTGCGTGGCTGCTTATGCAGTTTTCTGGAGGAGTATGATTGAGGAATCTGTTAGGAATCTTCTGGCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTTGGAGGCCAAGGAGG... |
Task1_train_29750 | This sequence variant lies in NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | TTTTTAAGGCTGGAAGTATTATTTTTCACTTTTTGATTAGCAACATGAAAGAACAGTCATAAATGTGACCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCT... | TTTTTAAGGCTGGAAGTATTATTTTTCACTTTTTGATTAGCAACATGAAAGAACAGTCATAAATGTGACCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCT... |
Task1_train_29751 | This genomic variant is located on Chromosome X, within the NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Exudative vitreoretinopathy 2, X-linked | GCTGGAAGTATTATTTTTCACTTTTTGATTAGCAACATGAAAGAACAGTCATAAATGTGACCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTT... | GCTGGAAGTATTATTTTTCACTTTTTGATTAGCAACATGAAAGAACAGTCATAAATGTGACCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTT... |
Task1_train_29752 | With a mutation on Chromosome X in gene NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | ATTAGCAACATGAAAGAACAGTCATAAATGTGACCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCA... | ATTAGCAACATGAAAGAACAGTCATAAATGTGACCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCA... |
Task1_train_29753 | Here is a variant affecting NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Exudative vitreoretinopathy 2, X-linked | ACATGAAAGAACAGTCATAAATGTGACCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTG... | ACATGAAAGAACAGTCATAAATGTGACCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTG... |
Task1_train_29754 | A sequence alteration has been identified in NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Atrophia bulborum hereditaria | CATAAATGTGACCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATC... | CATAAATGTGACCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATC... |
Task1_train_29755 | Gene NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Atrophia bulborum hereditaria | CCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAA... | CCAACAGTTAATACTTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAA... |
Task1_train_29756 | Mutation context: Chromosome X, Gene NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Atrophia bulborum hereditaria | TTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGT... | TTTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGT... |
Task1_train_29757 | This variant affects gene NDP-AS1, NDP (NDP antisense RNA 1| norrin cystine knot growth factor NDP) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Atrophia bulborum hereditaria | TTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGTT... | TTCATTATCAGTTAAAAATTATAACCATTTAACTTTCAGTATTAAATTTAATTCCATTTATGACAAAATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGTT... |
Task1_train_29758 | Gene NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Atrophia bulborum hereditaria | ATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGTTGGCTGTACTAACAGTGGGGGAGTTAATATCATCTCTAGTTAACCAGGACAAGGTTGCCCTGGAAACT... | ATTCTTCATGTAATGGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGTTGGCTGTACTAACAGTGGGGGAGTTAATATCATCTCTAGTTAACCAGGACAAGGTTGCCCTGGAAACT... |
Task1_train_29759 | Given this context: Chromosome X, gene NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Atrophia bulborum hereditaria | GGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGTTGGCTGTACTAACAGTGGGGGAGTTAATATCATCTCTAGTTAACCAGGACAAGGTTGCCCTGGAAACTGAATTGCCAAGTCT... | GGTCCAAACTGCCATTTCGCATTTGCCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGTTGGCTGTACTAACAGTGGGGGAGTTAATATCATCTCTAGTTAACCAGGACAAGGTTGCCCTGGAAACTGAATTGCCAAGTCT... |
Task1_train_29760 | A variant has been detected on Chromosome X in NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Retinal dystrophy | CCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGTTGGCTGTACTAACAGTGGGGGAGTTAATATCATCTCTAGTTAACCAGGACAAGGTTGCCCTGGAAACTGAATTGCCAAGTCTGGATTTGTATTGAGATACCTAAGAG... | CCTTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGTTGGCTGTACTAACAGTGGGGGAGTTAATATCATCTCTAGTTAACCAGGACAAGGTTGCCCTGGAAACTGAATTGCCAAGTCTGGATTTGTATTGAGATACCTAAGAG... |
Task1_train_29761 | Consider a variant on Chromosome X in gene NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1). Determine its clinical classification and disease relevance. | Pathogenic; Atrophia bulborum hereditaria | TTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGTTGGCTGTACTAACAGTGGGGGAGTTAATATCATCTCTAGTTAACCAGGACAAGGTTGCCCTGGAAACTGAATTGCCAAGTCTGGATTTGTATTGAGATACCTAAGAGGG... | TTCAGAATGAGGAGAACCTCCAATTTAGGAGACTGGCTGGCTGTGTCACCACAGAGATTAAGATCAAGGTCAAGATTTAATAGCATTAGTTTCATTCTGTTTCAAAGCCATGAATACAAGTATAACCCTGCTGGCTTTCTTAAGAATGTGTGAAAGCTGTGCCAAAGAGTGTTCAAAACCATTATCTCTACTGGAAAAGTAATTCACAGGTTGGCTGTACTAACAGTGGGGGAGTTAATATCATCTCTAGTTAACCAGGACAAGGTTGCCCTGGAAACTGAATTGCCAAGTCTGGATTTGTATTGAGATACCTAAGAGGG... |
Task1_train_29762 | This variant affects gene NDP-AS1, NDP (NDP antisense RNA 1| norrin cystine knot growth factor NDP) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Atrophia bulborum hereditaria | AGTCTCTAAAGGCAAACAATTTCATTAAGTGAGACCCATTAGAGAAAAGATCAGCCCGAGAATGTAAGAGTTAAGAATTATAGAACATTTCCAAATGAAAACAGTTTTGCTCCTGGATACATAGAGAAAAATCTAACCTAGAAAAGGTCTGGGTAGTTGAGATTTTGCCAGGCATATTTTATGGCCAGGGAAGAAAGGTTTATAATTGCAAGCACCATTTACATAAAACTATTGCTATATTTGGGATAGTTTGGGATGTTTGAAAACAGATTGTTCCCATGAAATTACAAACATTTCTCCTGCTATCACAATTTTGCGCT... | AGTCTCTAAAGGCAAACAATTTCATTAAGTGAGACCCATTAGAGAAAAGATCAGCCCGAGAATGTAAGAGTTAAGAATTATAGAACATTTCCAAATGAAAACAGTTTTGCTCCTGGATACATAGAGAAAAATCTAACCTAGAAAAGGTCTGGGTAGTTGAGATTTTGCCAGGCATATTTTATGGCCAGGGAAGAAAGGTTTATAATTGCAAGCACCATTTACATAAAACTATTGCTATATTTGGGATAGTTTGGGATGTTTGAAAACAGATTGTTCCCATGAAATTACAAACATTTCTCCTGCTATCACAATTTTGCGCT... |
Task1_train_29763 | Given this variant in gene NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CATTAAGTGAGACCCATTAGAGAAAAGATCAGCCCGAGAATGTAAGAGTTAAGAATTATAGAACATTTCCAAATGAAAACAGTTTTGCTCCTGGATACATAGAGAAAAATCTAACCTAGAAAAGGTCTGGGTAGTTGAGATTTTGCCAGGCATATTTTATGGCCAGGGAAGAAAGGTTTATAATTGCAAGCACCATTTACATAAAACTATTGCTATATTTGGGATAGTTTGGGATGTTTGAAAACAGATTGTTCCCATGAAATTACAAACATTTCTCCTGCTATCACAATTTTGCGCTGTTATTTGCCATGGCTTTCTGG... | CATTAAGTGAGACCCATTAGAGAAAAGATCAGCCCGAGAATGTAAGAGTTAAGAATTATAGAACATTTCCAAATGAAAACAGTTTTGCTCCTGGATACATAGAGAAAAATCTAACCTAGAAAAGGTCTGGGTAGTTGAGATTTTGCCAGGCATATTTTATGGCCAGGGAAGAAAGGTTTATAATTGCAAGCACCATTTACATAAAACTATTGCTATATTTGGGATAGTTTGGGATGTTTGAAAACAGATTGTTCCCATGAAATTACAAACATTTCTCCTGCTATCACAATTTTGCGCTGTTATTTGCCATGGCTTTCTGG... |
Task1_train_29764 | This variant impacts the gene NDP-AS1, NDP (NDP antisense RNA 1| norrin cystine knot growth factor NDP) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Atrophia bulborum hereditaria | GAAAACAGTTTTGCTCCTGGATACATAGAGAAAAATCTAACCTAGAAAAGGTCTGGGTAGTTGAGATTTTGCCAGGCATATTTTATGGCCAGGGAAGAAAGGTTTATAATTGCAAGCACCATTTACATAAAACTATTGCTATATTTGGGATAGTTTGGGATGTTTGAAAACAGATTGTTCCCATGAAATTACAAACATTTCTCCTGCTATCACAATTTTGCGCTGTTATTTGCCATGGCTTTCTGGAAGAAACAAAGGTGAATAACAGTACACTAAAGTCTGTTTCTAAGACTCATGCTCAGAATTCACATGTGAATTTC... | GAAAACAGTTTTGCTCCTGGATACATAGAGAAAAATCTAACCTAGAAAAGGTCTGGGTAGTTGAGATTTTGCCAGGCATATTTTATGGCCAGGGAAGAAAGGTTTATAATTGCAAGCACCATTTACATAAAACTATTGCTATATTTGGGATAGTTTGGGATGTTTGAAAACAGATTGTTCCCATGAAATTACAAACATTTCTCCTGCTATCACAATTTTGCGCTGTTATTTGCCATGGCTTTCTGGAAGAAACAAAGGTGAATAACAGTACACTAAAGTCTGTTTCTAAGACTCATGCTCAGAATTCACATGTGAATTTC... |
Task1_train_29765 | A mutation in NDP, NDP-AS1 (norrin cystine knot growth factor NDP| NDP antisense RNA 1), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Atrophia bulborum hereditaria | TAACCTAGAAAAGGTCTGGGTAGTTGAGATTTTGCCAGGCATATTTTATGGCCAGGGAAGAAAGGTTTATAATTGCAAGCACCATTTACATAAAACTATTGCTATATTTGGGATAGTTTGGGATGTTTGAAAACAGATTGTTCCCATGAAATTACAAACATTTCTCCTGCTATCACAATTTTGCGCTGTTATTTGCCATGGCTTTCTGGAAGAAACAAAGGTGAATAACAGTACACTAAAGTCTGTTTCTAAGACTCATGCTCAGAATTCACATGTGAATTTCTTCGGTTTGAGTTCATGATGTCTCTTCTTTGACCTTC... | TAACCTAGAAAAGGTCTGGGTAGTTGAGATTTTGCCAGGCATATTTTATGGCCAGGGAAGAAAGGTTTATAATTGCAAGCACCATTTACATAAAACTATTGCTATATTTGGGATAGTTTGGGATGTTTGAAAACAGATTGTTCCCATGAAATTACAAACATTTCTCCTGCTATCACAATTTTGCGCTGTTATTTGCCATGGCTTTCTGGAAGAAACAAAGGTGAATAACAGTACACTAAAGTCTGTTTCTAAGACTCATGCTCAGAATTCACATGTGAATTTCTTCGGTTTGAGTTCATGATGTCTCTTCTTTGACCTTC... |
Task1_train_29766 | Located on Chromosome X, this mutation impacts KDM6A (lysine demethylase 6A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Kabuki syndrome 2 | TATAATCTATACAAAACTACAGTTTGTTCGTCTAGTTACTAGTCTCAGGGGAACAATTTAAAACTGTGTGCAAAATCAGTTGGGATTCCCATAGCTTCCCGCTGAATACTGGTAGGAATTACTGGGTCAGCACTGAATTGTCTTCGTCATATTTTGAAATCCAAGTTTAAATATATAATTTTTATTGGTTACAGGTGGAAAACCTATTGAAAATATAAAAAACTCCGTTTATAAACAGAATCTTGTCCTTATATGTCTATCAATTTTTTCCTATCCCTGTTATAAGACATACAGCTTAGTAAATAAATTTGCCTTTTGAG... | TATAATCTATACAAAACTACAGTTTGTTCGTCTAGTTACTAGTCTCAGGGGAACAATTTAAAACTGTGTGCAAAATCAGTTGGGATTCCCATAGCTTCCCGCTGAATACTGGTAGGAATTACTGGGTCAGCACTGAATTGTCTTCGTCATATTTTGAAATCCAAGTTTAAATATATAATTTTTATTGGTTACAGGTGGAAAACCTATTGAAAATATAAAAAACTCCGTTTATAAACAGAATCTTGTCCTTATATGTCTATCAATTTTTTCCTATCCCTGTTATAAGACATACAGCTTAGTAAATAAATTTGCCTTTTGAG... |
Task1_train_29767 | Assess the clinical impact of this variant on gene KDM6A (lysine demethylase 6A), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Kabuki syndrome 1 | AAATATGAAATTTGAAGTGGTTAATTCAATTTTATAAAGTTCTTTTATGGGAAAGGTTGCTATGTTGTTTAAAAAGTACTTCATATCATGATGGAGAATAAGAAGCCAGATATTAAAATAAAAGCTTAATAATATCTAAGGAATGTTTCCAAAGTATATTGGTAGTAGTGGTCATGATTATTTGTGCATGTGCGTGATTGTTTGTTTTTGCTGAAGTTGTTTTGAACTGCATAGTTTTAATCAGCTAATCATCAAACTATATGGAGTCTGACATCCAGTCTCCTTTTCCTCAGAAATTAAGGGAAGTTCCTGGTACTTGT... | AAATATGAAATTTGAAGTGGTTAATTCAATTTTATAAAGTTCTTTTATGGGAAAGGTTGCTATGTTGTTTAAAAAGTACTTCATATCATGATGGAGAATAAGAAGCCAGATATTAAAATAAAAGCTTAATAATATCTAAGGAATGTTTCCAAAGTATATTGGTAGTAGTGGTCATGATTATTTGTGCATGTGCGTGATTGTTTGTTTTTGCTGAAGTTGTTTTGAACTGCATAGTTTTAATCAGCTAATCATCAAACTATATGGAGTCTGACATCCAGTCTCCTTTTCCTCAGAAATTAAGGGAAGTTCCTGGTACTTGT... |
Task1_train_29768 | A sequence alteration has been identified in KDM6A (lysine demethylase 6A) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Kabuki syndrome 2 | AAATATGAAATTTGAAGTGGTTAATTCAATTTTATAAAGTTCTTTTATGGGAAAGGTTGCTATGTTGTTTAAAAAGTACTTCATATCATGATGGAGAATAAGAAGCCAGATATTAAAATAAAAGCTTAATAATATCTAAGGAATGTTTCCAAAGTATATTGGTAGTAGTGGTCATGATTATTTGTGCATGTGCGTGATTGTTTGTTTTTGCTGAAGTTGTTTTGAACTGCATAGTTTTAATCAGCTAATCATCAAACTATATGGAGTCTGACATCCAGTCTCCTTTTCCTCAGAAATTAAGGGAAGTTCCTGGTACTTGT... | AAATATGAAATTTGAAGTGGTTAATTCAATTTTATAAAGTTCTTTTATGGGAAAGGTTGCTATGTTGTTTAAAAAGTACTTCATATCATGATGGAGAATAAGAAGCCAGATATTAAAATAAAAGCTTAATAATATCTAAGGAATGTTTCCAAAGTATATTGGTAGTAGTGGTCATGATTATTTGTGCATGTGCGTGATTGTTTGTTTTTGCTGAAGTTGTTTTGAACTGCATAGTTTTAATCAGCTAATCATCAAACTATATGGAGTCTGACATCCAGTCTCCTTTTCCTCAGAAATTAAGGGAAGTTCCTGGTACTTGT... |
Task1_train_29769 | A mutation in LOC130068202, RP2 (ATAC-STARR-seq lymphoblastoid active region 29577| RP2 activator of ARL3 GTPase), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCC... | CTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCC... |
Task1_train_29770 | Gene LOC130068202, RP2 (ATAC-STARR-seq lymphoblastoid active region 29577| RP2 activator of ARL3 GTPase), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinitis pigmentosa 2 | CTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCC... | CTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCC... |
Task1_train_29771 | A genetic alteration is present in LOC130068202, RP2 (ATAC-STARR-seq lymphoblastoid active region 29577| RP2 activator of ARL3 GTPase) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCT... | TGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCT... |
Task1_train_29772 | The following genetic variant occurs in LOC130068202, RP2 (ATAC-STARR-seq lymphoblastoid active region 29577| RP2 activator of ARL3 GTPase) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | TGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCT... | TGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCT... |
Task1_train_29773 | Gene LOC130068202, RP2 (ATAC-STARR-seq lymphoblastoid active region 29577| RP2 activator of ARL3 GTPase), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCT... | TGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGCGCCCGCCACCATGCCCGGTTAATTTTTGTATTTTTAGTAGAGATGAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGCCCCCCCCGGCTCTGGTTTTTTTTTTTTTTTTTTTTTTTAGACAGAGTCTCCCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCCATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCT... |
Task1_train_29774 | A variant was discovered in gene RP2 (RP2 activator of ARL3 GTPase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinal dystrophy | ATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCAC... | ATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCAC... |
Task1_train_29775 | This variant affects the gene RP2 (RP2 activator of ARL3 GTPase) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Retinitis pigmentosa 2 | ATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCAC... | ATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCAC... |
Task1_train_29776 | A variant was discovered in gene RP2 (RP2 activator of ARL3 GTPase), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinitis pigmentosa 2 | TCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACT... | TCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACT... |
Task1_train_29777 | A variant affecting Chromosome X, within the gene RP2 (RP2 activator of ARL3 GTPase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Retinal dystrophy | TCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACT... | TCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACT... |
Task1_train_29778 | Located on Chromosome X, this mutation impacts RP2 (RP2 activator of ARL3 GTPase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinitis pigmentosa 2 | TCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACT... | TCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAAGCCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTGTACTAAAAATACAAAAACAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGGTAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGACAGGAGAGAGCCGAGTTCATGCCACT... |
Task1_train_29779 | Gene UBA1 (ubiquitin like modifier activating enzyme 1) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Infantile-onset X-linked spinal muscular atrophy | GATGAGGCCCGACACGGGTTTGAGAGCGGGGACTTTGTCTCCTTTTCAGAAGTACAGGGCATGGTTGAACTCAACGGAAATCAGCCCATGGAGATCAAAGTCCTGGGTGAGCTGCGACCATGGGGGAAGCAGAGGGGAACTAGAAGATATGTTCCTGGGTTCTGGCCGGGGAGTTGAAGGGAGAAGACATGGCCCTTGGTTCAGAGTTGGGAAGACACATCCTGGTGTTTGAGATGAACTACAGACAATCCTGTGGGGTCCAATAAGAGCTGGTGGGCATGGGGGAGAGGTACTGTGTTTGAGCTATTCCTGGGAGAATG... | GATGAGGCCCGACACGGGTTTGAGAGCGGGGACTTTGTCTCCTTTTCAGAAGTACAGGGCATGGTTGAACTCAACGGAAATCAGCCCATGGAGATCAAAGTCCTGGGTGAGCTGCGACCATGGGGGAAGCAGAGGGGAACTAGAAGATATGTTCCTGGGTTCTGGCCGGGGAGTTGAAGGGAGAAGACATGGCCCTTGGTTCAGAGTTGGGAAGACACATCCTGGTGTTTGAGATGAACTACAGACAATCCTGTGGGGTCCAATAAGAGCTGGTGGGCATGGGGGAGAGGTACTGTGTTTGAGCTATTCCTGGGAGAATG... |
Task1_train_29780 | A variant found in Chromosome X affects UBA1 (ubiquitin like modifier activating enzyme 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Infantile-onset X-linked spinal muscular atrophy | GTCTCGAATTCCCGACCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGTTGGTATTACAGGCGTGAGCCACCACACCTCACCCCTCCTTTTTCTTGTTCCCATTCTTTCTGTCAGAGATCTTTCTGCCTCTGCCAGAAGCCCTTCTTTTTGGCCTTTCTTTCCCTCAGCTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCCTTAACCTCTTTTTAGTGCTGGTTGGGACAGTGTGTCTGGGGTCCTCAAAACTACTCTCAAGCTCAATTCACCTAGAGTACTTACAGGACTCAGCATATAGTCGTGCTTGTGG... | GTCTCGAATTCCCGACCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGTTGGTATTACAGGCGTGAGCCACCACACCTCACCCCTCCTTTTTCTTGTTCCCATTCTTTCTGTCAGAGATCTTTCTGCCTCTGCCAGAAGCCCTTCTTTTTGGCCTTTCTTTCCCTCAGCTTCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCCTTAACCTCTTTTTAGTGCTGGTTGGGACAGTGTGTCTGGGGTCCTCAAAACTACTCTCAAGCTCAATTCACCTAGAGTACTTACAGGACTCAGCATATAGTCGTGCTTGTGG... |
Task1_train_29781 | This sequence variant lies in SYN1 (synapsin I) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Intellectual disability, X-linked 50 | GTAAAACTATTAAGTAAAAGTGTTTACTTAAGTAAGTGTTACTTAAATAGACTAAAAGCCCTTTGGGGGTATGAATTAAAGTTGGTAGAGGGAATCCTAGGGGTACTGAAGGGAGTGGGAAAGGGGTGATCATTATAAACTCAGCTCTGGATTTATCACAGGAAAGGACCTTGGGAGAGGCCTTGTGATTGGAACAGGCTCTCCTAGGGGTAAGGAAGAAGAATGTACTCCCCAAAACAACAGGTCCTGCATATGTGCTCACTGGATCTACTGTTAAGAAAACAATTCTGGGGAGGAGGTGTGAATATACAGAACACACA... | GTAAAACTATTAAGTAAAAGTGTTTACTTAAGTAAGTGTTACTTAAATAGACTAAAAGCCCTTTGGGGGTATGAATTAAAGTTGGTAGAGGGAATCCTAGGGGTACTGAAGGGAGTGGGAAAGGGGTGATCATTATAAACTCAGCTCTGGATTTATCACAGGAAAGGACCTTGGGAGAGGCCTTGTGATTGGAACAGGCTCTCCTAGGGGTAAGGAAGAAGAATGTACTCCCCAAAACAACAGGTCCTGCATATGTGCTCACTGGATCTACTGTTAAGAAAACAATTCTGGGGAGGAGGTGTGAATATACAGAACACACA... |
Task1_train_29782 | Here is a genetic alteration in CFP (complement factor properdin) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Properdin deficiency, type III | GGCAGCGGCGGGGAGAGGCTGGGACTGCACACTCGCTTTCACTCCTGCCAACCTGCGACCACAGTGGAAAATACTGTTTTCCGCAACAGGCTGCTGTGTCTTGGCCCGTGCTGTGCTGTTTGCCCTATGAGATGCTATCACCCTACTTTTGGGGAAGGGGATAGGTTGTTTTTCCTCCTTTAAGGAATCGTAGACGAACTCGAAGAGGCTAGTTTATTGAGGTTTGGAAGGTCAGGGGGCTCAGAGTGGAGGAGAGAAGTGTTAGAGTTCCTCTTCCTCAGGGTCTTTGCAAGCAGGCACGTGTAGACATGGTCGTTTCT... | GGCAGCGGCGGGGAGAGGCTGGGACTGCACACTCGCTTTCACTCCTGCCAACCTGCGACCACAGTGGAAAATACTGTTTTCCGCAACAGGCTGCTGTGTCTTGGCCCGTGCTGTGCTGTTTGCCCTATGAGATGCTATCACCCTACTTTTGGGGAAGGGGATAGGTTGTTTTTCCTCCTTTAAGGAATCGTAGACGAACTCGAAGAGGCTAGTTTATTGAGGTTTGGAAGGTCAGGGGGCTCAGAGTGGAGGAGAGAAGTGTTAGAGTTCCTCTTCCTCAGGGTCTTTGCAAGCAGGCACGTGTAGACATGGTCGTTTCT... |
Task1_train_29783 | A variant has been detected on Chromosome X in CFP (complement factor properdin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | AGGGGTGGGGAGGAACGGAAGGGAGAATCTCAGGGAAGGCAAGAATGCATTCAATTCTTATTGAGTGCCTGCTATATGCCGAGGGCTACTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCACAATCATAGCTCACTGCAGCCTCAATCTCCTGGGCTCAAGTGATGCTCCTGCCTCAGCCTCCCAAAGTGTTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTCCCAACACTACTTTTTAGCTATAGGATATTGGGCAATTTCTTTAGCT... | AGGGGTGGGGAGGAACGGAAGGGAGAATCTCAGGGAAGGCAAGAATGCATTCAATTCTTATTGAGTGCCTGCTATATGCCGAGGGCTACTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTGAGGCAGGGTCTCACTCTGTTGCCCAGGCTGCAGTGCAGTGGCACAATCATAGCTCACTGCAGCCTCAATCTCCTGGGCTCAAGTGATGCTCCTGCCTCAGCCTCCCAAAGTGTTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTCCCAACACTACTTTTTAGCTATAGGATATTGGGCAATTTCTTTAGCT... |
Task1_train_29784 | A variant found in Chromosome X affects CFP (complement factor properdin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Properdin deficiency, X-linked | CTCTGTGCCTCGGTTTCCCTCATCTGCAAAATGAGAATGGTAGGAATAGTAATATTAATACTCACCTCACGGGGTTGAATGAGGATAAATGAGTTAATTCAGGTAAAGTGCTCAGAGCAGTGCCTGGCACACAGCAAGTGCTCAATAAATGCTGGTGAATGTTACTTGTTGGCATGAGCTACTTTCTTTTACCTCCGAAATATATACCCTTTATATCTCTTTCCACTGCCTCCAGGAAAAAACCCAATGCCTTGTCCTGACATTCAAGGCCTTATTGTTGGGCCCAAATCCCTGCCCCAAGCCAATCTCTCTCTCTGTCT... | CTCTGTGCCTCGGTTTCCCTCATCTGCAAAATGAGAATGGTAGGAATAGTAATATTAATACTCACCTCACGGGGTTGAATGAGGATAAATGAGTTAATTCAGGTAAAGTGCTCAGAGCAGTGCCTGGCACACAGCAAGTGCTCAATAAATGCTGGTGAATGTTACTTGTTGGCATGAGCTACTTTCTTTTACCTCCGAAATATATACCCTTTATATCTCTTTCCACTGCCTCCAGGAAAAAACCCAATGCCTTGTCCTGACATTCAAGGCCTTATTGTTGGGCCCAAATCCCTGCCCCAAGCCAATCTCTCTCTCTGTCT... |
Task1_train_29785 | The variant affects gene SSX1 (SSX family member 1), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Spermatogenic failure, X-linked, 5 | AGACGGTTTTGCTATGTTGGCCAGGCTGGCCTCTGCCGCCTGGGCTTAAGCAATCCTTCCGCCTCGGCCCTGGGACTACAGAAGTGCACCATCCTGCCCATGCTTTTTTTTTTTTTTTTTTTAGTAGAAACCAGGTTTCACTATGTTGGCCAGGCTGGCCTCAACCTCCTGGGCTCAAGCGATCCTCACACCTTGGCCTCAGGACTACAGATGTGTGCCATTCCGCCCCTGCTAGTTTTGTTGTTGTTGTTCTTTTTAGTAGAGACAGGGTTTCCTTATGTTGGCCGAACTGGGCTTGACCTCCTCGGCTCAAGTGATCC... | AGACGGTTTTGCTATGTTGGCCAGGCTGGCCTCTGCCGCCTGGGCTTAAGCAATCCTTCCGCCTCGGCCCTGGGACTACAGAAGTGCACCATCCTGCCCATGCTTTTTTTTTTTTTTTTTTTAGTAGAAACCAGGTTTCACTATGTTGGCCAGGCTGGCCTCAACCTCCTGGGCTCAAGCGATCCTCACACCTTGGCCTCAGGACTACAGATGTGTGCCATTCCGCCCCTGCTAGTTTTGTTGTTGTTGTTCTTTTTAGTAGAGACAGGGTTTCCTTATGTTGGCCGAACTGGGCTTGACCTCCTCGGCTCAAGTGATCC... |
Task1_train_29786 | The gene FTSJ1 (FtsJ RNA 2'-O-methyltransferase 1) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Inborn genetic diseases | GCCTCGGAAGAAAAAGAACAAAGAATCGCTGGCAACTTGCGCGTCGCGTCGCTGCAGCCACGCAGTGCGTGGATTCAGCCGCTTTGGCCGTGCCCGTTGCATGCCGGGAAACGCAGTTCGCGAGCCCCGGATACGTCGACAATAGATGACGGGGCTCACGTTGTACGTTCACATCAGGTCCCGGCCCGCCGGAACCTGGGCGATCCACGATGCCGAGTTTGCCACGCTGCGACAGCCCATAGGCTTGCCCCCCCGGGCATTCGGGTGGACTACGAACACAAACTGAAGCCCTAGGACTTGTCGCCCGTTTGCGCTCTCGC... | GCCTCGGAAGAAAAAGAACAAAGAATCGCTGGCAACTTGCGCGTCGCGTCGCTGCAGCCACGCAGTGCGTGGATTCAGCCGCTTTGGCCGTGCCCGTTGCATGCCGGGAAACGCAGTTCGCGAGCCCCGGATACGTCGACAATAGATGACGGGGCTCACGTTGTACGTTCACATCAGGTCCCGGCCCGCCGGAACCTGGGCGATCCACGATGCCGAGTTTGCCACGCTGCGACAGCCCATAGGCTTGCCCCCCCGGGCATTCGGGTGGACTACGAACACAAACTGAAGCCCTAGGACTTGTCGCCCGTTTGCGCTCTCGC... |
Task1_train_29787 | Consider a variant on Chromosome X in gene FTSJ1 (FtsJ RNA 2'-O-methyltransferase 1). Determine its clinical classification and disease relevance. | Pathogenic; Intellectual disability, X-linked 9 | CAACATAGCAAGACCCTGTCTTAAAATATTAGCTGGCATGGTGATGCATGCCCATAGTCCCAGTTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAAGAGGTCGAGGTTACAGTACACTTTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTCTCTCTAAAAAAACGGGGTGAGGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATATGATGAAACCCCATCTCTACTAAAAA... | CAACATAGCAAGACCCTGTCTTAAAATATTAGCTGGCATGGTGATGCATGCCCATAGTCCCAGTTACTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAAGAGGTCGAGGTTACAGTACACTTTGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCTCTCTCTAAAAAAACGGGGTGAGGAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGTCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAATATGATGAAACCCCATCTCTACTAAAAA... |
Task1_train_29788 | This variant impacts the gene PORCN (porcupine O-acyltransferase) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TCTCGCCGGGTGGGGATGAGATGGGGGGCGCGGAGGATACAGGACACCCCCCCTCCCCGTGCCGCCGCATCCATACAAGGAGAGATGCACACGGCCCCCAAGTGTCACAGAATCCCCCTCTCTGCCCTCCACTCAGAGCGACTCTACCTTGGAAACCAGGGATTCCCCTTCCCGTCGCCCGCCCCATTTGATATATGGGCCTGAAATGTATGCCATCCCATCACCATCGGACTGGACTGTTCACAGCACTGGAGAGACAGAGGTCCTTCATTCACTCCAGGTCACAGGCTGTGCGTGTGCATGCCGAACACCCACATGCA... | TCTCGCCGGGTGGGGATGAGATGGGGGGCGCGGAGGATACAGGACACCCCCCCTCCCCGTGCCGCCGCATCCATACAAGGAGAGATGCACACGGCCCCCAAGTGTCACAGAATCCCCCTCTCTGCCCTCCACTCAGAGCGACTCTACCTTGGAAACCAGGGATTCCCCTTCCCGTCGCCCGCCCCATTTGATATATGGGCCTGAAATGTATGCCATCCCATCACCATCGGACTGGACTGTTCACAGCACTGGAGAGACAGAGGTCCTTCATTCACTCCAGGTCACAGGCTGTGCGTGTGCATGCCGAACACCCACATGCA... |
Task1_train_29789 | Here is a genetic alteration in PORCN (porcupine O-acyltransferase) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Global developmental delay | TATTTTTTCCCAGGTTTATTATTTTGAAATTTTTCAAAGCTACTGAAATGTTGAAAAAATAGTACAGTGAGCACCCACGTATGCATCACCAGATTCTCTGTCAACATCTTGCCACGTTAGCTGGCTCTATCTGTCTATCTATCTATCTATCTGTATATCTATCCATCTATCTATCTATCTATCTATCCATCTATCTATCTATCATCTTCCTGAATTGCCTGAATAACCTGCTGACATCATGACACTGTACCCCACATCCTTCAGTGTGTGGCCCCTGAGAACAAGGACATCATCTCCCACAACCACATCCTCCACCATCA... | TATTTTTTCCCAGGTTTATTATTTTGAAATTTTTCAAAGCTACTGAAATGTTGAAAAAATAGTACAGTGAGCACCCACGTATGCATCACCAGATTCTCTGTCAACATCTTGCCACGTTAGCTGGCTCTATCTGTCTATCTATCTATCTATCTGTATATCTATCCATCTATCTATCTATCTATCTATCCATCTATCTATCTATCATCTTCCTGAATTGCCTGAATAACCTGCTGACATCATGACACTGTACCCCACATCCTTCAGTGTGTGGCCCCTGAGAACAAGGACATCATCTCCCACAACCACATCCTCCACCATCA... |
Task1_train_29790 | A mutation found in PORCN (porcupine O-acyltransferase) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Focal dermal hypoplasia | TGGCTACATTTCATCTGTCTTGTCTGAACAATTCAGACCAGCCTCCAGGGCCTCTCTGACTCTCTTTTCTTTCTTCTCTGCTGCCTTCCTGACCCCTGGGGGCCCTAGGGGCACCATGGTAAGGTGAGTCTACAGAGCGGGGCCCAGGATGCTGACATGTGGTGGGGTATCATGTTGGGACCTGAACGTGATGCCTCTCACCCCTGCCCCTTTCTCCCCAGGTGGCTGCGAGCCTACGAGAGTGCTGTCTCCTTCCACTTCAGCAACTATTTTGTGGGCTTTCTTTCCGAGGCCACGGCCACGTTGGCGGGGGCTGGCTT... | TGGCTACATTTCATCTGTCTTGTCTGAACAATTCAGACCAGCCTCCAGGGCCTCTCTGACTCTCTTTTCTTTCTTCTCTGCTGCCTTCCTGACCCCTGGGGGCCCTAGGGGCACCATGGTAAGGTGAGTCTACAGAGCGGGGCCCAGGATGCTGACATGTGGTGGGGTATCATGTTGGGACCTGAACGTGATGCCTCTCACCCCTGCCCCTTTCTCCCCAGGTGGCTGCGAGCCTACGAGAGTGCTGTCTCCTTCCACTTCAGCAACTATTTTGTGGGCTTTCTTTCCGAGGCCACGGCCACGTTGGCGGGGGCTGGCTT... |
Task1_train_29791 | Consider a variant on Chromosome X in gene PORCN (porcupine O-acyltransferase). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CCACGGCAGGGCTCTGAGCAGAGGAGGGCCCTGGGCTGACTCGGGTTGCAGCAGGATCCCTCTGGCTGCTGTGAGGACAGACTGAGAAGAGGGATCGAGGATGCAGCAGTGAGGAGGCCGCTGCCATCATCCAGGCCAGTGATGGTGGTGGTGGCAGTGGATGTGGAGAGGAGAGCTCAGATTCTGGCATATTCTGAAGGTGGAACTCACACAATTTGCTGAATTTGGATGTGGGAGTTTGGGGAGGGCAAATCAAGGGTAATTCCCAGGTTTTTGCCCTGAGGAACTGGAAACGTGGAGTTGACATTGACTGAACTTGA... | CCACGGCAGGGCTCTGAGCAGAGGAGGGCCCTGGGCTGACTCGGGTTGCAGCAGGATCCCTCTGGCTGCTGTGAGGACAGACTGAGAAGAGGGATCGAGGATGCAGCAGTGAGGAGGCCGCTGCCATCATCCAGGCCAGTGATGGTGGTGGTGGCAGTGGATGTGGAGAGGAGAGCTCAGATTCTGGCATATTCTGAAGGTGGAACTCACACAATTTGCTGAATTTGGATGTGGGAGTTTGGGGAGGGCAAATCAAGGGTAATTCCCAGGTTTTTGCCCTGAGGAACTGGAAACGTGGAGTTGACATTGACTGAACTTGA... |
Task1_train_29792 | Mutation context: Chromosome X, Gene EBP (EBP cholestenol delta-isomerase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; MEND syndrome | CCATTGGCTCGCTCCGTAAGGCAAGAGAACCCACTAGGGGATGAGCCCGAACTAGGGATGTGACAGAGCGCGAGACCCAGCCTAAAGAGAGCCCGGAGCCAGCGTGGGAGGCCGCTGCCGTCGCGCGCCTTGGTGAGTGCCCTCCACCCGGCCCCTGCTCCCTCCCCCAGCTCTCCCCGGCTACGCGGCCAGCCCTCGGCGTGCCAGCGCGAGACCCTTTGCCACCCGCCCCCCCCACCGCCCTTTTGCGCCTGCGCGAGACCCCCAGCTACCGCACGGTTGTCCAGAGGACAGAAGATCCGTCTTCTCATTGGGCAGCG... | CCATTGGCTCGCTCCGTAAGGCAAGAGAACCCACTAGGGGATGAGCCCGAACTAGGGATGTGACAGAGCGCGAGACCCAGCCTAAAGAGAGCCCGGAGCCAGCGTGGGAGGCCGCTGCCGTCGCGCGCCTTGGTGAGTGCCCTCCACCCGGCCCCTGCTCCCTCCCCCAGCTCTCCCCGGCTACGCGGCCAGCCCTCGGCGTGCCAGCGCGAGACCCTTTGCCACCCGCCCCCCCCACCGCCCTTTTGCGCCTGCGCGAGACCCCCAGCTACCGCACGGTTGTCCAGAGGACAGAAGATCCGTCTTCTCATTGGGCAGCG... |
Task1_train_29793 | Assess the clinical impact of this variant on gene EBP (EBP cholestenol delta-isomerase), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; MEND syndrome | GAGAGCCCGGAGCCAGCGTGGGAGGCCGCTGCCGTCGCGCGCCTTGGTGAGTGCCCTCCACCCGGCCCCTGCTCCCTCCCCCAGCTCTCCCCGGCTACGCGGCCAGCCCTCGGCGTGCCAGCGCGAGACCCTTTGCCACCCGCCCCCCCCACCGCCCTTTTGCGCCTGCGCGAGACCCCCAGCTACCGCACGGTTGTCCAGAGGACAGAAGATCCGTCTTCTCATTGGGCAGCGGGACTGGAGGGTTCTGGTTCGGATTGACCGGCTTTGTGTTCCGTTCTAGCGCTGCACGCCAGACACCGGCCTTTCAATATCCGTCT... | GAGAGCCCGGAGCCAGCGTGGGAGGCCGCTGCCGTCGCGCGCCTTGGTGAGTGCCCTCCACCCGGCCCCTGCTCCCTCCCCCAGCTCTCCCCGGCTACGCGGCCAGCCCTCGGCGTGCCAGCGCGAGACCCTTTGCCACCCGCCCCCCCCACCGCCCTTTTGCGCCTGCGCGAGACCCCCAGCTACCGCACGGTTGTCCAGAGGACAGAAGATCCGTCTTCTCATTGGGCAGCGGGACTGGAGGGTTCTGGTTCGGATTGACCGGCTTTGTGTTCCGTTCTAGCGCTGCACGCCAGACACCGGCCTTTCAATATCCGTCT... |
Task1_train_29794 | Here is a mutation in EBP (EBP cholestenol delta-isomerase) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Chondrodysplasia punctata 2 X-linked dominant | GAGCCCGGAGCCAGCGTGGGAGGCCGCTGCCGTCGCGCGCCTTGGTGAGTGCCCTCCACCCGGCCCCTGCTCCCTCCCCCAGCTCTCCCCGGCTACGCGGCCAGCCCTCGGCGTGCCAGCGCGAGACCCTTTGCCACCCGCCCCCCCCACCGCCCTTTTGCGCCTGCGCGAGACCCCCAGCTACCGCACGGTTGTCCAGAGGACAGAAGATCCGTCTTCTCATTGGGCAGCGGGACTGGAGGGTTCTGGTTCGGATTGACCGGCTTTGTGTTCCGTTCTAGCGCTGCACGCCAGACACCGGCCTTTCAATATCCGTCTCT... | GAGCCCGGAGCCAGCGTGGGAGGCCGCTGCCGTCGCGCGCCTTGGTGAGTGCCCTCCACCCGGCCCCTGCTCCCTCCCCCAGCTCTCCCCGGCTACGCGGCCAGCCCTCGGCGTGCCAGCGCGAGACCCTTTGCCACCCGCCCCCCCCACCGCCCTTTTGCGCCTGCGCGAGACCCCCAGCTACCGCACGGTTGTCCAGAGGACAGAAGATCCGTCTTCTCATTGGGCAGCGGGACTGGAGGGTTCTGGTTCGGATTGACCGGCTTTGTGTTCCGTTCTAGCGCTGCACGCCAGACACCGGCCTTTCAATATCCGTCTCT... |
Task1_train_29795 | A variant was discovered on Chromosome X, affecting EBP (EBP cholestenol delta-isomerase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; MEND syndrome | TCTCCCCGGCTACGCGGCCAGCCCTCGGCGTGCCAGCGCGAGACCCTTTGCCACCCGCCCCCCCCACCGCCCTTTTGCGCCTGCGCGAGACCCCCAGCTACCGCACGGTTGTCCAGAGGACAGAAGATCCGTCTTCTCATTGGGCAGCGGGACTGGAGGGTTCTGGTTCGGATTGACCGGCTTTGTGTTCCGTTCTAGCGCTGCACGCCAGACACCGGCCTTTCAATATCCGTCTCTTCCCTGCAGGTTGACGGCGTTGCACGCTCTCGCGGGGAGGCTCTGGCTTTCCAAACGCTGGCACCGAGGGTTGTAGTTCTGAT... | TCTCCCCGGCTACGCGGCCAGCCCTCGGCGTGCCAGCGCGAGACCCTTTGCCACCCGCCCCCCCCACCGCCCTTTTGCGCCTGCGCGAGACCCCCAGCTACCGCACGGTTGTCCAGAGGACAGAAGATCCGTCTTCTCATTGGGCAGCGGGACTGGAGGGTTCTGGTTCGGATTGACCGGCTTTGTGTTCCGTTCTAGCGCTGCACGCCAGACACCGGCCTTTCAATATCCGTCTCTTCCCTGCAGGTTGACGGCGTTGCACGCTCTCGCGGGGAGGCTCTGGCTTTCCAAACGCTGGCACCGAGGGTTGTAGTTCTGAT... |
Task1_train_29796 | The variant affects gene EBP (EBP cholestenol delta-isomerase), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Chondrodysplasia punctata 2 X-linked dominant | CCTCCCAAAATTCTGGGATGACAGGTGCGCACCACCGTGCCCAGCCTTATTTAACTTTTTTGTTGCATGTATATTCACGTGGGTCAAAAAACCATTTAAAGAGATTTGCAGTGAAAATCTGCTTTCTATCCACTAAGTTTCCCCAAACGCTGTTAGGCACTGTTGATAGTTGTTTATGTTTCTTTTCAGTTTATTTACACACGTAAGTCTCAATTTGCTCAATTGTAAAAGGAGGATAATAGTAATAACCAACTATATGTAAGATACTTAGAACAGTGTTTGGCAAACAGTGGTTGCCATGTAACTGTTCACTATTATTA... | CCTCCCAAAATTCTGGGATGACAGGTGCGCACCACCGTGCCCAGCCTTATTTAACTTTTTTGTTGCATGTATATTCACGTGGGTCAAAAAACCATTTAAAGAGATTTGCAGTGAAAATCTGCTTTCTATCCACTAAGTTTCCCCAAACGCTGTTAGGCACTGTTGATAGTTGTTTATGTTTCTTTTCAGTTTATTTACACACGTAAGTCTCAATTTGCTCAATTGTAAAAGGAGGATAATAGTAATAACCAACTATATGTAAGATACTTAGAACAGTGTTTGGCAAACAGTGGTTGCCATGTAACTGTTCACTATTATTA... |
Task1_train_29797 | Gene EBP (EBP cholestenol delta-isomerase) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Chondrodysplasia punctata 2 X-linked dominant | TAAGATACTTAGAACAGTGTTTGGCAAACAGTGGTTGCCATGTAACTGTTCACTATTATTATCATTATTTGCACTTTTCCCTTTTTACACAAATGGTAATATGCTATATATACTTCTAATCTTTTCTCTTTTTCTTTCTTTCCTTACAAGAAAACCAAAGAAGCCATTTTCTTTTTTGAGACGGGGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATTATAGCTCACTGCAACCTTGAACTCCTGGGCAATCAAGCAATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCATGTGCCACCCCAC... | TAAGATACTTAGAACAGTGTTTGGCAAACAGTGGTTGCCATGTAACTGTTCACTATTATTATCATTATTTGCACTTTTCCCTTTTTACACAAATGGTAATATGCTATATATACTTCTAATCTTTTCTCTTTTTCTTTCTTTCCTTACAAGAAAACCAAAGAAGCCATTTTCTTTTTTGAGACGGGGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATTATAGCTCACTGCAACCTTGAACTCCTGGGCAATCAAGCAATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCATGTGCCACCCCAC... |
Task1_train_29798 | A mutation in EBP (EBP cholestenol delta-isomerase), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Chondrodysplasia punctata 2 X-linked dominant | TAAGATACTTAGAACAGTGTTTGGCAAACAGTGGTTGCCATGTAACTGTTCACTATTATTATCATTATTTGCACTTTTCCCTTTTTACACAAATGGTAATATGCTATATATACTTCTAATCTTTTCTCTTTTTCTTTCTTTCCTTACAAGAAAACCAAAGAAGCCATTTTCTTTTTTGAGACGGGGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATTATAGCTCACTGCAACCTTGAACTCCTGGGCAATCAAGCAATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCATGTGCCACCCCAC... | TAAGATACTTAGAACAGTGTTTGGCAAACAGTGGTTGCCATGTAACTGTTCACTATTATTATCATTATTTGCACTTTTCCCTTTTTACACAAATGGTAATATGCTATATATACTTCTAATCTTTTCTCTTTTTCTTTCTTTCCTTACAAGAAAACCAAAGAAGCCATTTTCTTTTTTGAGACGGGGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATTATAGCTCACTGCAACCTTGAACTCCTGGGCAATCAAGCAATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCATGTGCCACCCCAC... |
Task1_train_29799 | The variant affects gene EBP (EBP cholestenol delta-isomerase), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; MEND syndrome | TAAGATACTTAGAACAGTGTTTGGCAAACAGTGGTTGCCATGTAACTGTTCACTATTATTATCATTATTTGCACTTTTCCCTTTTTACACAAATGGTAATATGCTATATATACTTCTAATCTTTTCTCTTTTTCTTTCTTTCCTTACAAGAAAACCAAAGAAGCCATTTTCTTTTTTGAGACGGGGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATTATAGCTCACTGCAACCTTGAACTCCTGGGCAATCAAGCAATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCATGTGCCACCCCAC... | TAAGATACTTAGAACAGTGTTTGGCAAACAGTGGTTGCCATGTAACTGTTCACTATTATTATCATTATTTGCACTTTTCCCTTTTTACACAAATGGTAATATGCTATATATACTTCTAATCTTTTCTCTTTTTCTTTCTTTCCTTACAAGAAAACCAAAGAAGCCATTTTCTTTTTTGAGACGGGGTCTCGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATTATAGCTCACTGCAACCTTGAACTCCTGGGCAATCAAGCAATCCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTATAGGCATGTGCCACCCCAC... |
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