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_29900 | Here is a variant affecting FOXP3 (forkhead box P3) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome | CTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGACCTCGAGGAGCAGGTGAGGCCTGGGGGCAGGATGGGGAGCCAAGGCGGGCCGGGGGGACAGTTCCTCAGGTTATGCTGACAGAGGCTGTGGAGCCACACACAGCCGATGGCTGGACACCCAGCCCTGCCCCTTAGTGCCTGTGACCTGGGACAGGCAAGTGGCCTACTGTGAGCCCCAGCTTCCACCCCAAGGGCCCTCCTGTCTGCCTCCCAGGGCCATGGGCAGAGGCTTCAGCTTAAAGATGTAGGGGGAATCCTGCCACATGGCGA... | CTCATCCAGACCATCGAGGACACAGGCACCATCATGCGGGAGGTTCGAGACCTCGAGGAGCAGGTGAGGCCTGGGGGCAGGATGGGGAGCCAAGGCGGGCCGGGGGGACAGTTCCTCAGGTTATGCTGACAGAGGCTGTGGAGCCACACACAGCCGATGGCTGGACACCCAGCCCTGCCCCTTAGTGCCTGTGACCTGGGACAGGCAAGTGGCCTACTGTGAGCCCCAGCTTCCACCCCAAGGGCCCTCCTGTCTGCCTCCCAGGGCCATGGGCAGAGGCTTCAGCTTAAAGATGTAGGGGGAATCCTGCCACATGGCGA... |
Task1_train_29901 | The following genetic variant occurs in FOXP3 (forkhead box P3) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome | GATATGATGGGGGAGGGGGTGGCTGCCAGCGGGGGAACAGGGGCCCTGGCAGGCAAGACAGTGGAAACCTCACTTCTTGGTCCCTGTGGGCACATCCAGGGCCTATCATCCCTGCCCCCACCACCTCTGCCTCCCACCAGTTTGGCCCCTGTTCGTCCATCCTCCTTTCCTTGATCTTGAGGTCAGGGGCCAGGTGTAGGGTTGGAACACCTGCTGGGCCTCTGGCTCCGTTTCTTGCGGAACTCCAGCTCATCCACGGTCCACACAGCCCCCTTCTCGCTCTCCACCCGCACAAAGCACTTGTGCAGACTCAGGTTGTG... | GATATGATGGGGGAGGGGGTGGCTGCCAGCGGGGGAACAGGGGCCCTGGCAGGCAAGACAGTGGAAACCTCACTTCTTGGTCCCTGTGGGCACATCCAGGGCCTATCATCCCTGCCCCCACCACCTCTGCCTCCCACCAGTTTGGCCCCTGTTCGTCCATCCTCCTTTCCTTGATCTTGAGGTCAGGGGCCAGGTGTAGGGTTGGAACACCTGCTGGGCCTCTGGCTCCGTTTCTTGCGGAACTCCAGCTCATCCACGGTCCACACAGCCCCCTTCTCGCTCTCCACCCGCACAAAGCACTTGTGCAGACTCAGGTTGTG... |
Task1_train_29902 | This alteration occurs within gene FOXP3 (forkhead box P3) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome | ACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGC... | ACTCGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGC... |
Task1_train_29903 | Given this variant in gene FOXP3 (forkhead box P3) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Non-obstructive azoospermia | CGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAG... | CGAGACCATATGGGGGGCTTTCAGGCCACGGACATCCCGAAAGGAAGCTTTTGTGAGCGGATGCATTTTCCCAAAGGCTGAGTGGCGGCAGCTGCAGTGGTGGTGGTGGTGGGAAGGGGCAGCATGGAGCTCCTTTGCACCCTCCACCCAGAGCCTGTCAGGATTAGGAGCTTGGGGGCACCGTGTAGTGCAAGGACCATTCTTACCTGGGAATGTGCTGTTTCCATGGCTACCCCACAGGTGCCTCCGGACAGCAAACAGGCTGTCAGGGGCCTCCCGGGGGCCAGACCAGGCTGGGACGACAGGGCCTTGGCTGCCAG... |
Task1_train_29904 | A change on Chromosome X affects gene FOXP3 (forkhead box P3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome | GGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACATTGTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAG... | GGCATTACCTGCTGCTCCAGAGACTGTACCATCTCTCTCTGGAGGAGACATTGTGCCCTGCCCTTCTCATCCAGAAGATGGTCCGCCTGGCAGTGCCTAAGTAGGGAGAAGATTCCATGCAGGTGACCACGACAGGCCTGGTCTGGCTCAATGCTCTGAATGGGGAGGGCCCAGACCCTCTGGGAGTTCTCTCCTCTGAGCCCCAGCTCCCCTCCCCTCTCTACCTCAGTCTCCCTCTCACACCCCTCGTTCCCTTAACACATGCCCCTCAGCACCTACTGCATGTCAGGCCTGAACTCACCACTTGAGCCTGGCCAGAG... |
Task1_train_29905 | Located on Chromosome X, this mutation impacts FOXP3 (forkhead box P3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome | TTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCG... | TTGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCG... |
Task1_train_29906 | This mutation is located in gene FOXP3 (forkhead box P3) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Insulin-dependent diabetes mellitus secretory diarrhea syndrome | TGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGA... | TGATCAAGACACTTAACCTCTTTGGCCTCAGTCTCCTTGTCTGTAAAATGGGGGTAAATAACAGCACAAACGTTTCTTATTATACATACGAGAAAACTGAGGTCGAGAGAAGCTAAGTAATTTGTCCAAGGTCACACAGCCAGTCAGGGATGGAGCTGGGATTTGAACCCACAGTCTCAGAGTTTAGCTCTTGCATCTTACTACTTATTGGGATGAAGCCTGAGCTGAGATCTGCACCCTAGACCTCTCCCCACAAGCCAGGGCCGGTAGACTGGCACAGGCCTGGGCCACTCACTTGAGGAAGTCCTCTGGCTCTTCGA... |
Task1_train_29907 | This variant affects the gene USP27X (ubiquitin specific peptidase 27 X-linked) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Intellectual disability, X-linked 105 | TCAGGCCGGGCGGGGGACACCCCAGGTCTGCGTGGCCCCCGCGCCGCCACGCCCAGTGGCCGCCCGAGCCCTGCGAGCAGGGGGAGGAGCCGCCGCCAGTGGAGGCGGAGGAGGTAGAGGAGGCGGAGACGGCGGAGAAGGCGGAGAGGAAGGTGGAGGCGGAGGCGAAGGTGGAGGGGAAGGCGGAGGCGGCGGGGAAGGCGGAGGCGGCGGGGAAGGTGGACGCCACCGAGAAGGTGGAGACGGCGGGGAAGGTGGACGCCGCTGGGAAGGTGGAGACGGCGGAGGGTCCGGGCCGCCGGGCTGAGCTCAAGCTGGAG... | TCAGGCCGGGCGGGGGACACCCCAGGTCTGCGTGGCCCCCGCGCCGCCACGCCCAGTGGCCGCCCGAGCCCTGCGAGCAGGGGGAGGAGCCGCCGCCAGTGGAGGCGGAGGAGGTAGAGGAGGCGGAGACGGCGGAGAAGGCGGAGAGGAAGGTGGAGGCGGAGGCGAAGGTGGAGGGGAAGGCGGAGGCGGCGGGGAAGGCGGAGGCGGCGGGGAAGGTGGACGCCACCGAGAAGGTGGAGACGGCGGGGAAGGTGGACGCCGCTGGGAAGGTGGAGACGGCGGAGGGTCCGGGCCGCCGGGCTGAGCTCAAGCTGGAG... |
Task1_train_29908 | Given this variant in gene CLCN5 (chloride voltage-gated channel 5) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; X-linked recessive nephrolithiasis with renal failure | CATAACTAAGAAAAGTAAATGGTTTTCTGTTAAAGGAATAAAAGAAAAAAATCTCAGAGCCCTAGTGTTTACTGAAGCATACAAAGTAAACTCCTTGTGATTATTGATCTTGTACAACCATAAAACCAAAGTAAACTTATGCTTTCAACTCCAACAAAACCACAAGACCAGTTAAATTCAAACTGGGGACATTAACTTAATGTGATAGGTAATAGATGGTACTTATGGCTATGGCACAGGTTCTTTTGAATTTAGCAAGAGAATTTCCCCACTTTTCTCTTTTTGAAGTACCGTGAAAACTTCTCAGAGAGACTTGCCAA... | CATAACTAAGAAAAGTAAATGGTTTTCTGTTAAAGGAATAAAAGAAAAAAATCTCAGAGCCCTAGTGTTTACTGAAGCATACAAAGTAAACTCCTTGTGATTATTGATCTTGTACAACCATAAAACCAAAGTAAACTTATGCTTTCAACTCCAACAAAACCACAAGACCAGTTAAATTCAAACTGGGGACATTAACTTAATGTGATAGGTAATAGATGGTACTTATGGCTATGGCACAGGTTCTTTTGAATTTAGCAAGAGAATTTCCCCACTTTTCTCTTTTTGAAGTACCGTGAAAACTTCTCAGAGAGACTTGCCAA... |
Task1_train_29909 | A genomic change on Chromosome X affects CLCN5 (chloride voltage-gated channel 5). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Dent disease type 1 | TGTTCCTGAGTCTGTGGTACCAAAATTTTCTTGAAGATGTAGTTATATGTGGACTCTAAAAAAGAAAGTTGAGTAAACAGAACCAGAGAGCAGAATGGTGGTTACCTGGGGCATGGAGGAGGAGGAAATGGGGAGAAGTGGACCAAAGGGTACAAATTTGCAGTGAGGTAGGGTGAATAAGTCTAGAGAGGTAATGTACAGTAGAGTTAATAATGCTGTATACTAAAAATTTGCTAAGAGTATATTTTAGATGCTCTTACCACACATACAAAGAAAGGTAACTATGGAAGGTGATATGCATGTAAGTTTATTTCAATGTA... | TGTTCCTGAGTCTGTGGTACCAAAATTTTCTTGAAGATGTAGTTATATGTGGACTCTAAAAAAGAAAGTTGAGTAAACAGAACCAGAGAGCAGAATGGTGGTTACCTGGGGCATGGAGGAGGAGGAAATGGGGAGAAGTGGACCAAAGGGTACAAATTTGCAGTGAGGTAGGGTGAATAAGTCTAGAGAGGTAATGTACAGTAGAGTTAATAATGCTGTATACTAAAAATTTGCTAAGAGTATATTTTAGATGCTCTTACCACACATACAAAGAAAGGTAACTATGGAAGGTGATATGCATGTAAGTTTATTTCAATGTA... |
Task1_train_29910 | Here is a genetic alteration in CLCN5 (chloride voltage-gated channel 5) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; X-linked recessive nephrolithiasis with renal failure | GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACAT... | GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACAT... |
Task1_train_29911 | Here is a genetic alteration in CLCN5 (chloride voltage-gated channel 5) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Dent disease type 1 | GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACAT... | GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACAT... |
Task1_train_29912 | Assess the clinical impact of this variant on gene CLCN5 (chloride voltage-gated channel 5), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACAT... | GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACAT... |
Task1_train_29913 | Gene CLCN5 (chloride voltage-gated channel 5) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypophosphatemic rickets, X-linked recessive | GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACAT... | GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACAT... |
Task1_train_29914 | This variant affects gene CLCN5 (chloride voltage-gated channel 5) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; CLCN5-related disorder | GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACAT... | GTTTCTAATAAAATAAGAGGGGAATTCGATTTGGCTGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACAT... |
Task1_train_29915 | Consider a variant on Chromosome X in gene CLCN5 (chloride voltage-gated channel 5). Determine its clinical classification and disease relevance. | Pathogenic; Dent disease type 1 | TGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTAT... | TGTTTCTCTCTACAGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTAT... |
Task1_train_29916 | This mutation occurs in CLCN5 (chloride voltage-gated channel 5) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Dent disease type 1 | AGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGT... | AGATGCCATATATTTCTCCAGTTAGACTCATATGAATACAGTCATGTCTCAATGACAGGGATATGTTATGAAAAATGCATTGTTAGGAGATTTCGTCACTGTGCAAGCATTATAGATTGAAGTTACACAAACTTAGATGGTCTAGCCTACTACACACCTAGGCTTTATGATATAGCCTATGGCTCCTAGGCTACAAACATGTACAGCATGCGACTATACTGAATACTGTGAGCAATTGTAACACAATGGTAAATATTTGTGCATCTAAACATAGAAAAAGCACAGTAAAAATATAATATAATTTTATGGGGCCACCATGT... |
Task1_train_29917 | Gene CLCN5 (chloride voltage-gated channel 5) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | GGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCC... | GGTCCATCATTGACTGAAACGTTGTTACGTGGTGCGTGACAGTATTTGAATTGGTTTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGGAGACAGGGTCTCAGTCTTTTGGCCAGGCTAGAATGCAGTAGTGTGATCTCAGTTCACTGCAACCTCCATCACCTGGGCTTGAGCAATTCTCCCACCTCAGACTCCCCAGTAGCTAAGACTACAGGCACATGCCATTATACCCAGCTGATTTTGTGAATTTTTTTGTAGAGACTGGGTTTTGCCATGTTGCCCAGGCCAGTGTTGAATTCCTGGGCTCAAGTGATCCTCCTGCC... |
Task1_train_29918 | Here is a mutation in CLCN5 (chloride voltage-gated channel 5) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Dent disease type 1 | GGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGA... | GGCATGAGCCACCACAACCGGCTAGTATTTGAATCTTAAATTTACTTTCTAGCACTTATTTAGACTTTCCAGTTATTTTTTCCTGTTGCTTTCATCATCAGCGGCAACCTTTTTTGTCTTATGGCCTTGTCAAAGTGGGCAGATGGTTGAGAGTAAAACAGACTTGAGAAAGAAGGGTGTAGACAGACTCCACTCTACAATATAAAATTAAAGCAAACTAGCTACCCCGATTCTTTCTGTCTCTTGATTCATCCTAAACATAGTCACTGAAATCCCCTTTCTCAAGTTGCATGTTGGCTGTCCTCATCTTTCTTAAATGA... |
Task1_train_29919 | Located on Chromosome X, this mutation impacts CLCN5 (chloride voltage-gated channel 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; X-linked recessive nephrolithiasis with renal failure | TTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGT... | TTTAACACTCATACTGAAAATTGTCATTACTATATTCACCTTTGGCATGAAGGTGAGGAATTCTTTTGGGACTCAGTGGCTGCATGCGTAGCTGTGGGTTTTGGAGGGCAGAGCCCAGGTATCATACAATCCTGATAGCTCATATGGTGCTTTCAAATCCCCCTCACATTATTCCCCCACCCCCAAAGCCTCTTTTACCCCACACGTTCTCATAATTTGCTAGACACTTGTACCTCTATCTCAAATTGTCCAAGCCTTGAGTTGTCCAAATGCCAGCCTCAGTGATGAAATTTTAGGAAGAATGTTTGCTCCTTTTCTGT... |
Task1_train_29920 | This sequence variant lies in CLCN5, LOC126863258 (chloride voltage-gated channel 5| BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Dent disease type 1 | TTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAA... | TTTTGTGTGAGCAATGGGCTAAGATTCAATATATGAGCATGGTTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAA... |
Task1_train_29921 | This variant lies on Chromosome X and affects the gene CLCN5, LOC126863258 (chloride voltage-gated channel 5| BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dent disease type 1 | TTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGT... | TTATGAGCATTCCATTTAAATCCCAGCACCAGTCTTTACTAAATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGT... |
Task1_train_29922 | This alteration in CLCN5, LOC126863258 (chloride voltage-gated channel 5| BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Dent disease type 1 | AATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTC... | AATCTTGACCTTGGGTGGGTTACTTAACCTCTCTGAACCTTAGGTTCTTTGGCATTTGGGAATAATAATGCCTGCCTCCTGGGGTTATAAAGAACCCATGAATCTTGCATGTAGAGCGTCCAGCATAGAACATGGTAGGTACTCAATAAAGGGTAGTCATTGTTGATAAGAATTCAAAATTGGTGGAAATGTCTGCATATATGAGAAACTCCATCTATTTTCCTTTTTCTTTGGGAAAGGCCCAATTTCTGCCTCCAGTTCTGTGTTGGTCTGGAGAGTTCAGGCTCTTGCCTGATGGACCCCGAATCAGGGTAAGCTTC... |
Task1_train_29923 | The gene CCNB3 (cyclin B3) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Pregnancy loss, recurrent, susceptibility to, 1 | CATTTAAGAGAAAATGGCGTGATGTTGATGGCAGTGAGTCTAAATGGTCCAGGTGAAATAGTAATTTGGGAAGTAGCAGTATAAAAGTGAGTAGCTGACCTTTTCTTCATGACCATAATCCATCTAACTAACCTCTCTGATTCCCCTTCCTTAGGTGCTAACTGATCTTGTTCAACTTTCATTTTTCCTTCAGCTAGGCTAGTTGTAGGAAGCCTTAGGGTTTGGGAGCAGAGAGTTGGCAACTTTTACCAAGGATTTCAAAGAACTTTAGAACTGTGGGTTTGTTTCTGTGTTGGCTCCCTCCCCAGCTCCTGCCTTCC... | CATTTAAGAGAAAATGGCGTGATGTTGATGGCAGTGAGTCTAAATGGTCCAGGTGAAATAGTAATTTGGGAAGTAGCAGTATAAAAGTGAGTAGCTGACCTTTTCTTCATGACCATAATCCATCTAACTAACCTCTCTGATTCCCCTTCCTTAGGTGCTAACTGATCTTGTTCAACTTTCATTTTTCCTTCAGCTAGGCTAGTTGTAGGAAGCCTTAGGGTTTGGGAGCAGAGAGTTGGCAACTTTTACCAAGGATTTCAAAGAACTTTAGAACTGTGGGTTTGTTTCTGTGTTGGCTCCCTCCCCAGCTCCTGCCTTCC... |
Task1_train_29924 | Gene BMP15 (bone morphogenetic protein 15) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ovarian dysgenesis 2 | TTCCTTTATAGCCAGGGTGGAGCAGGTTTAAGGGTGGGCCTCTAAGAAAGATTACTGTAAGATGGGAGTGTGGAATAACTTGAGAAAGCAAATACAAGCCTGGCTTGGATTTGTGTGAATAATGTCTAGTGCGCCAAGCCCAAGGGTATATTAAGCATGAGTTGGAATTTGACCTTTTATTTTACTTATTTTTTTGAGATGGAGTTTCGCTCTTATCATCCAGGCTGGAGTGCAGTGGCACAAACTCGGCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACA... | TTCCTTTATAGCCAGGGTGGAGCAGGTTTAAGGGTGGGCCTCTAAGAAAGATTACTGTAAGATGGGAGTGTGGAATAACTTGAGAAAGCAAATACAAGCCTGGCTTGGATTTGTGTGAATAATGTCTAGTGCGCCAAGCCCAAGGGTATATTAAGCATGAGTTGGAATTTGACCTTTTATTTTACTTATTTTTTTGAGATGGAGTTTCGCTCTTATCATCCAGGCTGGAGTGCAGTGGCACAAACTCGGCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACA... |
Task1_train_29925 | This variant affects gene BMP15 (bone morphogenetic protein 15) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Ovarian dysgenesis 2 | TTTCGCTCTTATCATCCAGGCTGGAGTGCAGTGGCACAAACTCGGCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCT... | TTTCGCTCTTATCATCCAGGCTGGAGTGCAGTGGCACAAACTCGGCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCT... |
Task1_train_29926 | A sequence alteration has been identified in BMP15 (bone morphogenetic protein 15) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Ovarian dysgenesis 2 | GCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCA... | GCTCACTACAACCTCTGCCTCCCGGGTGCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCA... |
Task1_train_29927 | This is a variant in BMP15 (bone morphogenetic protein 15), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Ovarian dysgenesis 2 | CCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGG... | CCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGG... |
Task1_train_29928 | Given this context: Chromosome X, gene BMP15 (bone morphogenetic protein 15) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ovarian dysgenesis 2 | ATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAA... | ATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCAGGGTGTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGACTCCCAAAGTGCTGGGATTAGAGGCGTGAGCCACCGCGCCCAGCCGGAATTTGAACTTTTAAAGATATTCTGGGGCTGGGTGCAGTGGCTCAAAGGGCGGCTAATCCCTGCACTTTGGGAGGCCAAAGGGGGCAGATCGCTTGAACCCAGGAGTTCGAGACCAGCCCGGCAACATGGCAAAACCCTGTCTCTACAAAAAA... |
Task1_train_29929 | Given this variant in gene GSPT2 (G1 to S phase transition 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Delayed speech and language development | AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTA... | AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTA... |
Task1_train_29930 | This alteration in GSPT2 (G1 to S phase transition 2) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Autism | AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTA... | AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTA... |
Task1_train_29931 | Assess the clinical impact of this variant on gene GSPT2 (G1 to S phase transition 2), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Seizure | AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTA... | AGGCCCCCCGGAATGAAGCAGGAAAACCCGAGGCCTGTGGATGCAGGATGTACTAGGGAGGTGCTGGGGAGTAGTGCAGATAAACCCAGAATTCAGTTGGTTGGTAAAACAAGAGTGATCTGAGTCCTGTGCTTGTCTACGTGATCCACCATTGAATGGCAGGCCAGCCATTGTGCAGGCATCTGCATATGAAGTGACTGGAAGCTTCACTGGAACAAGGATCTCCTTGGAAATTCTCTCCCCTCAGACAGCCAGGGTGCTTAACATGAAAAGAAGTTGTAACCCTATCCTTAAACTATAGAAGCCATCAGCAGAAGTTA... |
Task1_train_29932 | This gene mutation involves KDM5C (lysine demethylase 5C) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Smith-Magenis Syndrome-like | AACCCCAAACTTGAGACCCTCCGCCTTCTGGAGGAGGAGGGAAGACACAGGCTGCCAGCAGGGAGCAGAGTCTAGGAATCTGGACAGATGCAGAATGGAGTAGGAAGGCTGGTCCAAAGAAAACTGAAAATTGGAGAACAAGGGGCAGGGCCGAGCCTAAACTGGGGTAGGGGCTAGGAGACAAGAATCTGAGGACAAGAGCTGGGCTGAGTAGCTCACCTTAGGCATATCCTTGCCACTGCCCTCTCTGAGGGGGTCAGAAGCAGGGGCTGCAGGGTAGTTAGGAGGCTCCTCAGGTCTAGGTTCAGCCTGTAGCCGTT... | AACCCCAAACTTGAGACCCTCCGCCTTCTGGAGGAGGAGGGAAGACACAGGCTGCCAGCAGGGAGCAGAGTCTAGGAATCTGGACAGATGCAGAATGGAGTAGGAAGGCTGGTCCAAAGAAAACTGAAAATTGGAGAACAAGGGGCAGGGCCGAGCCTAAACTGGGGTAGGGGCTAGGAGACAAGAATCTGAGGACAAGAGCTGGGCTGAGTAGCTCACCTTAGGCATATCCTTGCCACTGCCCTCTCTGAGGGGGTCAGAAGCAGGGGCTGCAGGGTAGTTAGGAGGCTCCTCAGGTCTAGGTTCAGCCTGTAGCCGTT... |
Task1_train_29933 | Mutation context: Chromosome X, Gene KDM5C (lysine demethylase 5C). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Spastic paraplegia | AACCCCAAACTTGAGACCCTCCGCCTTCTGGAGGAGGAGGGAAGACACAGGCTGCCAGCAGGGAGCAGAGTCTAGGAATCTGGACAGATGCAGAATGGAGTAGGAAGGCTGGTCCAAAGAAAACTGAAAATTGGAGAACAAGGGGCAGGGCCGAGCCTAAACTGGGGTAGGGGCTAGGAGACAAGAATCTGAGGACAAGAGCTGGGCTGAGTAGCTCACCTTAGGCATATCCTTGCCACTGCCCTCTCTGAGGGGGTCAGAAGCAGGGGCTGCAGGGTAGTTAGGAGGCTCCTCAGGTCTAGGTTCAGCCTGTAGCCGTT... | AACCCCAAACTTGAGACCCTCCGCCTTCTGGAGGAGGAGGGAAGACACAGGCTGCCAGCAGGGAGCAGAGTCTAGGAATCTGGACAGATGCAGAATGGAGTAGGAAGGCTGGTCCAAAGAAAACTGAAAATTGGAGAACAAGGGGCAGGGCCGAGCCTAAACTGGGGTAGGGGCTAGGAGACAAGAATCTGAGGACAAGAGCTGGGCTGAGTAGCTCACCTTAGGCATATCCTTGCCACTGCCCTCTCTGAGGGGGTCAGAAGCAGGGGCTGCAGGGTAGTTAGGAGGCTCCTCAGGTCTAGGTTCAGCCTGTAGCCGTT... |
Task1_train_29934 | This is a variant in KDM5C (lysine demethylase 5C), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type | ACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCA... | ACACTGGCACCCGCGACCAACAGTCCTCGCATGACAGCCAAGGTGCCCCTTCGGGCTGAGGGGGCCAGTGTGCGTTTCACCTCATCCAGCCATCGCGCCTGTTCCACCTGCCGCTGGAGCTGCTGGGCCTCAGGCACCTCCACCCCCAGCTGCCGCCCCCTCTCCAACAGGGACTGCAGTAGCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCA... |
Task1_train_29935 | Here is a genetic alteration in KDM5C (lysine demethylase 5C) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type | AGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAA... | AGGGCAGTGAGGCCAGGGCCTCACGAGCCTCAGCCTGGTAGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAA... |
Task1_train_29936 | A genetic alteration is present in KDM5C (lysine demethylase 5C) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Intellectual disability | AGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGC... | AGGCCTCCACCTGTTCCAGAACACCCTACCAGGACACAGGATGAAGAACAAACTCCTCAGCTGGGCCCACTGAGGGGTTCCACCACCAGATGGAACCTTGTCCCACCTATCTTCTTACCCTCCAAGCTTTTGGGGCAAAGGAGCCTAACATGGGCTGAGCTCTCCTTCTCCAAGCCCTAAGACAGTTGGGGTTCCTAACACTGACTGCTCATTAGAATGCCCTGGGGAATTTAAGAATGCAGATTCCTGGGCCCCACCCTGAGAGATTCTTAATTAACTAATAATTATTAATCTATGCTTTATTTAACTTTTCAGAGGGC... |
Task1_train_29937 | This is a variant in KDM5C (lysine demethylase 5C), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TAATTCTGTATTTTTATTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGT... | TAATTCTGTATTTTTATTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGT... |
Task1_train_29938 | A genomic change on Chromosome X affects KDM5C (lysine demethylase 5C). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | CACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGT... | CACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGGCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGT... |
Task1_train_29939 | Consider a variant on Chromosome X in gene KDM5C (lysine demethylase 5C). Determine its clinical classification and disease relevance. | Pathogenic; Spastic paraplegia | TGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTA... | TGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTA... |
Task1_train_29940 | A variant affecting Chromosome X, within the gene KDM5C (lysine demethylase 5C), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type | TGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTA... | TGGGATTACAGGCATGAGCCACCACACCCGGCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTATGTTGCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCCTGATCCTGAGTAGCTGGGATTACAGGCGTGCGCCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACTGGGGTTTCACCGTGTCGGCCAAGCTGGTTTTGAACTCCTGACCTCAAGTGATCTGACTGCCTTGGCCTCCCAAAGTGCTGGGATTA... |
Task1_train_29941 | Given this context: Chromosome X, gene KDM5C (lysine demethylase 5C) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type | GTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAA... | GTACAGATATCTAGGAATATCTGAAGGAGACATTAATTCAGTATTTATTGACTATCTCATACATTAGAGTAAGTGGTAATGTGTCCAAGGCCAAAGAGCGTGGAAGGGTGTAGGGAAGAGTAGCAGCCCCGGATAATACTTAAAGCAGAGATAGAGGATCTACTAATTCCTGTTCTTACAGGACTAGTGATCAGGCTGTTTTAAGATCCACACCAGAAAACTGGCTGATGCTAATCAATGCTAGAAATTCCCAGGAATATAAAGTCTCTCACAGGTAAGCCATGTTGTATACCCAGCAAAATGTTTTAAAGGGTAAGAAA... |
Task1_train_29942 | A variant was discovered on Chromosome X, affecting KDM5C (lysine demethylase 5C). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type | GAGGTGGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATGGCATCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGTCGCAAGAAAAGAAAAAGAAAAAAGAAAGATGGAAAATGAAGACACTGGCTTTTACAGTATCAAACCCTCCACTAATCCTGTTCTTGAG... | GAGGTGGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCACCATGGTGAAACCCTGTCTCTACTAGAACTACAAAAACTAGCCAGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATGGCATCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGTCGCAAGAAAAGAAAAAGAAAAAAGAAAGATGGAAAATGAAGACACTGGCTTTTACAGTATCAAACCCTCCACTAATCCTGTTCTTGAG... |
Task1_train_29943 | A change on Chromosome X affects gene KDM5C (lysine demethylase 5C). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type | TGCACCACTGCACCCAGCCACCTCTCTCTCATTTGTCACCTTCCAGTCAATCAGAGAAGCCCAAGGTCCCAATAGAGAGGGTCACAACTGCCAAAAGCTTTAGATATGTCCTCTAATCTCCCTGACAAGGTCATGTGAGTATTATCATCTCCTATACAGATGAGGAAACAGAGGCTCAGAGGAGTTAGGACACACAGCAAGCATCAAGATATTTTGGTGCCAAATAATTTGAGCTTTGGCTCTCCCTCTGCTACTGATTTGCTATGCTGCCTTGAGCAAATCAGTTCCACTGTGGACTCCTTTTTCCTTTTACTAATAAT... | TGCACCACTGCACCCAGCCACCTCTCTCTCATTTGTCACCTTCCAGTCAATCAGAGAAGCCCAAGGTCCCAATAGAGAGGGTCACAACTGCCAAAAGCTTTAGATATGTCCTCTAATCTCCCTGACAAGGTCATGTGAGTATTATCATCTCCTATACAGATGAGGAAACAGAGGCTCAGAGGAGTTAGGACACACAGCAAGCATCAAGATATTTTGGTGCCAAATAATTTGAGCTTTGGCTCTCCCTCTGCTACTGATTTGCTATGCTGCCTTGAGCAAATCAGTTCCACTGTGGACTCCTTTTTCCTTTTACTAATAAT... |
Task1_train_29944 | A genomic change on Chromosome X affects KDM5C, LOC130068308 (lysine demethylase 5C| ATAC-STARR-seq lymphoblastoid active region 29656). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | ACTGGGTCTACTCAGGGTACCCACACTCTCCTCCCACCCATCTTTCCCAAGCGTAGCAGTCACCTGCCCAGCAATTCAGGCCCCAAACCATCCTTCCTCCAGCAAACCTCCAATTCCCAGGTACCCACCCATATACAGGTTCCCACCCTGGGCCCAAGCATCACTTGAGCGAGTACTTCAAACTTCAACCAGAAGAAGGCCAGCTGCCTAAAGGTGGCCTAGGAGCTGCCATAGAGAAGGAAAAAACAAAACCAAACCAGAGAGCCAGGTATCCTGGATTAGAGAGAAGCACACTGTTGAGCAGTGAAAAGGACGGCCTC... | ACTGGGTCTACTCAGGGTACCCACACTCTCCTCCCACCCATCTTTCCCAAGCGTAGCAGTCACCTGCCCAGCAATTCAGGCCCCAAACCATCCTTCCTCCAGCAAACCTCCAATTCCCAGGTACCCACCCATATACAGGTTCCCACCCTGGGCCCAAGCATCACTTGAGCGAGTACTTCAAACTTCAACCAGAAGAAGGCCAGCTGCCTAAAGGTGGCCTAGGAGCTGCCATAGAGAAGGAAAAAACAAAACCAAACCAGAGAGCCAGGTATCCTGGATTAGAGAGAAGCACACTGTTGAGCAGTGAAAAGGACGGCCTC... |
Task1_train_29945 | This mutation is located in gene KDM5C, LOC130068308 (lysine demethylase 5C| ATAC-STARR-seq lymphoblastoid active region 29656) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Syndromic X-linked intellectual disability Claes-Jensen type | ACTCAGGGTACCCACACTCTCCTCCCACCCATCTTTCCCAAGCGTAGCAGTCACCTGCCCAGCAATTCAGGCCCCAAACCATCCTTCCTCCAGCAAACCTCCAATTCCCAGGTACCCACCCATATACAGGTTCCCACCCTGGGCCCAAGCATCACTTGAGCGAGTACTTCAAACTTCAACCAGAAGAAGGCCAGCTGCCTAAAGGTGGCCTAGGAGCTGCCATAGAGAAGGAAAAAACAAAACCAAACCAGAGAGCCAGGTATCCTGGATTAGAGAGAAGCACACTGTTGAGCAGTGAAAAGGACGGCCTCCTGCTGGCC... | ACTCAGGGTACCCACACTCTCCTCCCACCCATCTTTCCCAAGCGTAGCAGTCACCTGCCCAGCAATTCAGGCCCCAAACCATCCTTCCTCCAGCAAACCTCCAATTCCCAGGTACCCACCCATATACAGGTTCCCACCCTGGGCCCAAGCATCACTTGAGCGAGTACTTCAAACTTCAACCAGAAGAAGGCCAGCTGCCTAAAGGTGGCCTAGGAGCTGCCATAGAGAAGGAAAAAACAAAACCAAACCAGAGAGCCAGGTATCCTGGATTAGAGAGAAGCACACTGTTGAGCAGTGAAAAGGACGGCCTCCTGCTGGCC... |
Task1_train_29946 | A mutation found in IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Intellectual disability, X-linked 1 | GCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTG... | GCCCCCTGGTGGCCGGGATCCAGGGCCCCCAGCCGCGCCTGCTGCTGGCATCATCTGTGGGTGGTGGCTGAAGATGAAGTGCTTAGGGCCCTGTTTGTGGGCTGGAGGGTGCTGGGGGGCAGGACTGTACAGGGGCAGTGGGGATGTGGGCTGGTGCAGGGGGTGGCGGCCATGTGGAGCAAACTGAGGGTGTCCTCCAGCCCCCCGTCTGGGTGCCCTGCCTGGCCGGCCCAAGGTATAGTGTTGGGGCCCTGGGACTGGGCCATGGGCGTGGAAGTGGCGATGTGGCCCCACAGGTGGGGCTGAGGCGGGAGGCGGTG... |
Task1_train_29947 | This variant lies on Chromosome X and affects the gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | AGTTCTGGGACTATAGGTGTGAGCCACAGTGCCGAGCCCACTTCAAGCATCTTGATTACTGAAGATTTCCAGACTGACCTGGGGGGTCGCAGGTTCACCCCTCTTCACACAACCCTATGGGCTATTGAGGTGGACAGGGATATTTCCTACCACTTCCCAGGTTGTAAGTCTGTCATCTCCTTTGGTCCTCATATTTTCTGTCCCTGTGTGTCTGTTACTACCTCCAAATGCATCTGTGAGGAAAAGGAGGGGCAGAGAAGGCCTGGGCCTTGCCTGAGACCATGCAGATGGCATGGCAGAACACCTCGCCCGCCACACTC... | AGTTCTGGGACTATAGGTGTGAGCCACAGTGCCGAGCCCACTTCAAGCATCTTGATTACTGAAGATTTCCAGACTGACCTGGGGGGTCGCAGGTTCACCCCTCTTCACACAACCCTATGGGCTATTGAGGTGGACAGGGATATTTCCTACCACTTCCCAGGTTGTAAGTCTGTCATCTCCTTTGGTCCTCATATTTTCTGTCCCTGTGTGTCTGTTACTACCTCCAAATGCATCTGTGAGGAAAAGGAGGGGCAGAGAAGGCCTGGGCCTTGCCTGAGACCATGCAGATGGCATGGCAGAACACCTCGCCCGCCACACTC... |
Task1_train_29948 | Consider this mutation in IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | TGGCCAGGCTGGTCTGGAACTCCTGGCCTCATGGGATCCACCTGCCTCAGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCAACGTACCCAGCCCTCAATTGTTCCCTAAAGAAAATAAATGTTCCTGCCTCTGCGCCTTTGGTATTCTCATTGCTAGGTAAGCCCTCCTCTATCTCTATTGTGTCACCTTCTCCATGCCTTCAAGACCCACCTTAAAATAAAAATACTACCTCCTCCAGGAAGCTAGCTAGAGGTGGGCTCTCCCTCCTTTGAGCTCTGACTGCACTTTTGGCCTCTCTGATGTCACTGTTCACTTT... | TGGCCAGGCTGGTCTGGAACTCCTGGCCTCATGGGATCCACCTGCCTCAGCCTCACAAAGTGCTGGGATTACAGGTGTGAGCCAACGTACCCAGCCCTCAATTGTTCCCTAAAGAAAATAAATGTTCCTGCCTCTGCGCCTTTGGTATTCTCATTGCTAGGTAAGCCCTCCTCTATCTCTATTGTGTCACCTTCTCCATGCCTTCAAGACCCACCTTAAAATAAAAATACTACCTCCTCCAGGAAGCTAGCTAGAGGTGGGCTCTCCCTCCTTTGAGCTCTGACTGCACTTTTGGCCTCTCTGATGTCACTGTTCACTTT... |
Task1_train_29949 | The gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Intellectual disability, X-linked 1 | TCCCTAAAGAAAATAAATGTTCCTGCCTCTGCGCCTTTGGTATTCTCATTGCTAGGTAAGCCCTCCTCTATCTCTATTGTGTCACCTTCTCCATGCCTTCAAGACCCACCTTAAAATAAAAATACTACCTCCTCCAGGAAGCTAGCTAGAGGTGGGCTCTCCCTCCTTTGAGCTCTGACTGCACTTTTGGCCTCTCTGATGTCACTGTTCACTTTCTGTCTTATGTTAGTTATCTGGGTGCTACAAGTCAGCCTCTCCCACACACAGGGAGCTCTCTCAGAACAGGGAGTATGGCAGATTCCCCTCCATTGTCCTTGGCA... | TCCCTAAAGAAAATAAATGTTCCTGCCTCTGCGCCTTTGGTATTCTCATTGCTAGGTAAGCCCTCCTCTATCTCTATTGTGTCACCTTCTCCATGCCTTCAAGACCCACCTTAAAATAAAAATACTACCTCCTCCAGGAAGCTAGCTAGAGGTGGGCTCTCCCTCCTTTGAGCTCTGACTGCACTTTTGGCCTCTCTGATGTCACTGTTCACTTTCTGTCTTATGTTAGTTATCTGGGTGCTACAAGTCAGCCTCTCCCACACACAGGGAGCTCTCTCAGAACAGGGAGTATGGCAGATTCCCCTCCATTGTCCTTGGCA... |
Task1_train_29950 | Given a variant located on Chromosome X and affecting IQSEC2 (IQ motif and Sec7 domain ArfGEF 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Intellectual disability, X-linked 1 | GTTCACTGCTTGAACCCCAGGACCTAGAAACCTGGTACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGA... | GTTCACTGCTTGAACCCCAGGACCTAGAAACCTGGTACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGA... |
Task1_train_29951 | Gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Intellectual disability, X-linked 1 | ACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGAGGATGATGGCAAAAGCAAGGATGAAGATGGTGTCTG... | ACACAGTAGAAGCTCAGTACAATGGGCAAATGACGATTTGAGTGAATTAATAAGTGAATATCCTGGGAACATCCAGCTAGGGCAGAAAGTGACAGCATCACAAATTAATTTCCAAGGAACAGATGGGATCTCCTGCATCCTTCCCCTTACCCCCCACTTTCCCTTTCCAGGTGAAGGGCAGGAAAAGCTGACAGGGAAGTCACCTCTCAGGTTCTTGATGAAGTCATCTAGTTTCATCTTTCGTTCAGCTTTGACGCTGGGACTGTACATGTCGGTATTGAGGAGGATGATGGCAAAAGCAAGGATGAAGATGGTGTCTG... |
Task1_train_29952 | An alteration has been detected in IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Intellectual disability, X-linked 1 | AAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCC... | AAGGAGGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCC... |
Task1_train_29953 | A variant was discovered in gene IQSEC2 (IQ motif and Sec7 domain ArfGEF 2), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Intellectual disability, X-linked 1 | GGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGG... | GGTGTGGCGCTTTCAATTCCTCTGCAGAAAACCTCTGACCCACCTGGACCTGCTCAAATGGACCAACACCCCCACTGATAGACTCTCAAATTCAGGACCTGTGGCCCGAGCAAGTACACATGAGGACAGAATGTTTGAAATCAAATCCATCTCAGAAAATTGAGGCAAGGCACGTGGTCACTAAAGGTCCTTTCCATCAAGCCACTCATTTCAGAGACAGGAAAACTGAGGCCCAAAACAGGCTACAGGATGAGCATGTCTTGCCCAGGGCCACCCAGAAGACTTTAGGAATAGAGCCAAACAAGATCAGACCCCTTTGG... |
Task1_train_29954 | Here is a genetic alteration in IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Intellectual disability, X-linked 1 | AATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAG... | AATTTGTTACACAGCAACAGATAACAGATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAG... |
Task1_train_29955 | Here is a variant affecting IQSEC2 (IQ motif and Sec7 domain ArfGEF 2) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Intellectual disability, X-linked 1 | GATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAGAGGTTAGAGCAGGGTGACTTTTTCTC... | GATATACTTCCCCATCAGACTTCAATAGCACTCAGAGCTGGGACCAGACCTGCTTCCCAGACTGATCTCCTATTTCCCATTCCTCCCTTGAGGGAGGGATCCAGGCCTGGTTTCTCTCTTTTTAGCTCAGCTCAACACATTGCTTGACACAGAAGAGATGTTCAATTAAATCTTTGTTGTATGAATGAACAGACGAATGATATAGATCTTCCCTTCAATACTCCTGTCCTTCCCTCCACCTCTTCACCAGCTCCAAGGAGGCATGCCCAGGCTGATGGCAAGGCCAGATCATAGAGGTTAGAGCAGGGTGACTTTTTCTC... |
Task1_train_29956 | This sequence change occurs on Chromosome X, altering SMC1A (structural maintenance of chromosomes 1A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | CCCAGTCAGCAGGGCATTCAGCACCTTCCAGATTTGGAGGCTTCTTCTGTCCCTAATAGCTGGGATCAGAAGCTCTCAGGGGTCCAGGCATGAGGGTTATATTCTGAGGGGTCGGCACCTAGTGGGCTCCACGAAGGGATAAGGCCTCCAGTGAGGAGCTTGACATCATTAAATCCTATGAGGTAGGTAATATTGTTAGCCCCATTTTACAGATGAGGAAACTGAGGCACAGAAGGTCAAATGACTTGCCCAAGGTCAAACAACTAGTAAGTGATAAAAAGTGGGACCAGAACCCATAACTGTCTGTCCCCAGAGCTCAT... | CCCAGTCAGCAGGGCATTCAGCACCTTCCAGATTTGGAGGCTTCTTCTGTCCCTAATAGCTGGGATCAGAAGCTCTCAGGGGTCCAGGCATGAGGGTTATATTCTGAGGGGTCGGCACCTAGTGGGCTCCACGAAGGGATAAGGCCTCCAGTGAGGAGCTTGACATCATTAAATCCTATGAGGTAGGTAATATTGTTAGCCCCATTTTACAGATGAGGAAACTGAGGCACAGAAGGTCAAATGACTTGCCCAAGGTCAAACAACTAGTAAGTGATAAAAAGTGGGACCAGAACCCATAACTGTCTGTCCCCAGAGCTCAT... |
Task1_train_29957 | Here is a variant affecting SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | AGGACCAGGGGCCTCAAACCCTCCTCCCTACATACCTGCCCAAAGCCCAGTCAATGGTTCTCTCTGGGTGTGAGAGGATATGCTCAGTCCCATGTGCCTTCGCTCCTTGCCTACTTCTGTACTCTCCTCCTTTCTCCACTGTCTGGCTGCCTCTGCCTGCCTTTCCACCTGTCCCCAAATGCAATGGCCCTGCCTGGCTGGGCTGGCTAAGCCTCCAGAGGCAGGGCTCCAACAAGCCCAAATGGCCATTCAGGACCTGATTCCCTATGCTCCCCCACCTCCTTTCCCCTCCACTGCAGCCTTCCTTTCCTGCCCTGGGA... | AGGACCAGGGGCCTCAAACCCTCCTCCCTACATACCTGCCCAAAGCCCAGTCAATGGTTCTCTCTGGGTGTGAGAGGATATGCTCAGTCCCATGTGCCTTCGCTCCTTGCCTACTTCTGTACTCTCCTCCTTTCTCCACTGTCTGGCTGCCTCTGCCTGCCTTTCCACCTGTCCCCAAATGCAATGGCCCTGCCTGGCTGGGCTGGCTAAGCCTCCAGAGGCAGGGCTCCAACAAGCCCAAATGGCCATTCAGGACCTGATTCCCTATGCTCCCCCACCTCCTTTCCCCTCCACTGCAGCCTTCCTTTCCTGCCCTGGGA... |
Task1_train_29958 | A change on Chromosome X affects gene SMC1A (structural maintenance of chromosomes 1A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | CAGGGGCCTCAAACCCTCCTCCCTACATACCTGCCCAAAGCCCAGTCAATGGTTCTCTCTGGGTGTGAGAGGATATGCTCAGTCCCATGTGCCTTCGCTCCTTGCCTACTTCTGTACTCTCCTCCTTTCTCCACTGTCTGGCTGCCTCTGCCTGCCTTTCCACCTGTCCCCAAATGCAATGGCCCTGCCTGGCTGGGCTGGCTAAGCCTCCAGAGGCAGGGCTCCAACAAGCCCAAATGGCCATTCAGGACCTGATTCCCTATGCTCCCCCACCTCCTTTCCCCTCCACTGCAGCCTTCCTTTCCTGCCCTGGGAAATCA... | CAGGGGCCTCAAACCCTCCTCCCTACATACCTGCCCAAAGCCCAGTCAATGGTTCTCTCTGGGTGTGAGAGGATATGCTCAGTCCCATGTGCCTTCGCTCCTTGCCTACTTCTGTACTCTCCTCCTTTCTCCACTGTCTGGCTGCCTCTGCCTGCCTTTCCACCTGTCCCCAAATGCAATGGCCCTGCCTGGCTGGGCTGGCTAAGCCTCCAGAGGCAGGGCTCCAACAAGCCCAAATGGCCATTCAGGACCTGATTCCCTATGCTCCCCCACCTCCTTTCCCCTCCACTGCAGCCTTCCTTTCCTGCCCTGGGAAATCA... |
Task1_train_29959 | A variant was discovered on Chromosome X, affecting SMC1A (structural maintenance of chromosomes 1A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | CTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTAC... | CTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTAC... |
Task1_train_29960 | The gene SMC1A (structural maintenance of chromosomes 1A) 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 | CTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTAC... | CTGCAGCCTTCCTTTCCTGCCCTGGGAAATCAGGCAGGGAGTAGGACTGGCTCCTGAGCCAGGCCCGCCCTACCTCAGGATAGACTCCAATGAGGCTCTCGGCCTTGGTGTAGAACTCCTCCTTGAGAGAGATGACGATGGCCTGGAAGTTGCAAGTCGACTGCTCCTTGATGTAATTTGCCACCTGTGGGAAAGGCCGCCAGGCACTTAGCAAGGCTCAAACCTTAACAGTCCCCAGTATTTTCCAGCCACAACCAGAAGGCAGAAGAGGTAGGGTAGGGAGAGGAAGGTGGGGAAAAGAGAGGTTGAGAGGAGACTAC... |
Task1_train_29961 | This is a variant in SMC1A (structural maintenance of chromosomes 1A), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Developmental and epileptic encephalopathy, 85, with or without midline brain defects | AATCTGTTCACTGTACTGAAGTCTCTTCTCTGTGTGGACCTAGGCTTAGCTTAGTTATATACACACATGGAAGGGGAAGACTGATAGCAGGCAAGGGCAGGGGCAACTTGGGGTATGGGGTAGGGAATGTGCATATGTCTGTTTGAATATATGAGGTGGAGATCCTGCCTCACAACTGAATCCTCCCACCCTTGCCAGCTTTCCCCTCTTTCCAGCCATGGTCTTCACAGAGCCCCCAGATGGGCTGACCTCCTCTCTGGACAACTAGGAAGATAGTCCCACTCCCACCCAACCCCCACCCCCACCACACCCCTGTGGTT... | AATCTGTTCACTGTACTGAAGTCTCTTCTCTGTGTGGACCTAGGCTTAGCTTAGTTATATACACACATGGAAGGGGAAGACTGATAGCAGGCAAGGGCAGGGGCAACTTGGGGTATGGGGTAGGGAATGTGCATATGTCTGTTTGAATATATGAGGTGGAGATCCTGCCTCACAACTGAATCCTCCCACCCTTGCCAGCTTTCCCCTCTTTCCAGCCATGGTCTTCACAGAGCCCCCAGATGGGCTGACCTCCTCTCTGGACAACTAGGAAGATAGTCCCACTCCCACCCAACCCCCACCCCCACCACACCCCTGTGGTT... |
Task1_train_29962 | Gene SMC1A (structural maintenance of chromosomes 1A), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | CTTATGCTCCCCCAGTAATGGCCATCTACATTGCCACCAATGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAA... | CTTATGCTCCCCCAGTAATGGCCATCTACATTGCCACCAATGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAA... |
Task1_train_29963 | Located on Chromosome X, this mutation impacts SMC1A (structural maintenance of chromosomes 1A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | CATTGCCACCAATGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTT... | CATTGCCACCAATGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTT... |
Task1_train_29964 | Mutation context: Chromosome X, Gene SMC1A (structural maintenance of chromosomes 1A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | TGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTT... | TGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTT... |
Task1_train_29965 | A variant on Chromosome X in gene SMC1A (structural maintenance of chromosomes 1A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | TGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTT... | TGTCCCACTACTACAAGTTATGCCAAGATGAATGACACTGAATGTGTATCTCTTTGGGACCCTATGGCAAGACTCTCTCAGGGATATATACCCATAGGTTTTATATATGTGTATATATATACATTATATATATACACATATATTTTTTTCACATACTACACAGGACATCTATAGATTTCCACCTAATACTGTCAGACTTTTAAATTTGCATTTCTCTGATTAAGAGGTTAGACCTCAATTCCTATGGTCATTAGCCACTTGAACTTCTCTTTCCATGAAAGCCTATCTATATTATTTGCCACTTTTTTTTTTTTTACTTT... |
Task1_train_29966 | A variant found in Chromosome X affects SMC1A (structural maintenance of chromosomes 1A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | TTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCC... | TTACAGAAGTCAAGTCACTGCCAAAGATAACGAGTTGTGGAGCTGGGGTTGTAATCCAGGAATCCAGAAAATCAAGTTTAGAGTTGGCACTCTTAACCACTATAACTATGCCATACTGCCCTCCTGATTTCTGTTCTTTAAGGCCTAGCTACATAAACTCACATAGTTCTAAGAGCTGACCCTTGCCTATGACAGCATCTGGTTTTCCAAGGATGTCAAGCTAGAGGCTCAAGGGCATGCCAATCTCTTCTACCAATCCTCCCACCTACCGCTTCTTGGCGATTTCATTCTGCCGTTTCACCTTTTCTTCCTCAAACTCC... |
Task1_train_29967 | A mutation found in SMC1A (structural maintenance of chromosomes 1A) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | ATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCC... | ATGCGAGGCCCAAAGTTGGCTAGCTCACTCTCCAGCTTGGATTTTTCCTACAGGCAATGGGTTGAGAGGACAAAGCAGACCAGGCTCCTTGGAGAAAAAGCTACCTTGACTGCATTGGCCCCACAGTCAGGAAGGGCTAGCTCTCCACAACTGAGAGAACCTGGCTTAGCACTACTGCCCTAGTCAAGCCTCCATGATGTTGCACTGAAGCCATCACATGGCTTCTTCCCTGGCATCCAGTTCAGCCAGCTTCAATCCACAGGGCTGGGGACACAGTAAACATCATTAGGTATAGGTCCCAGTCTTTGATCTACAACCCC... |
Task1_train_29968 | Given a variant located on Chromosome X and affecting SMC1A (structural maintenance of chromosomes 1A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | GTGGACTGTGGTTTTATGAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGG... | GTGGACTGTGGTTTTATGAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGG... |
Task1_train_29969 | Gene SMC1A (structural maintenance of chromosomes 1A) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | GAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGA... | GAAATATATATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGA... |
Task1_train_29970 | Here is a variant affecting SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | ATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGATTGGGCATG... | ATTTAGTCTTCTACCCGTGAGTTCCTGACACACAACTCCTAAAACCCTTAGAATCTCAGGAATGAGCAGTGTCTTTTGTATGTTAATGAGATGATTATGGCTGGAGGCCCATAGATAGCTTCTGGATAGGGGCTGGTTACCAGAAAGACCAAGGCAGGATTAGATTTGGGACTCTTAGCTCCACCCCTACAACCTTCAGGAGGGGAGAGGGGCTGAAGGTTGAACTGATCACCGATGGCTGATGATCTGATCAATCATGACTACATAATGAAGCCCCTGTGTGGGGGTACCTGGAGGGTGGCTTGCCCAGATTGGGCATG... |
Task1_train_29971 | This alteration in SMC1A (structural maintenance of chromosomes 1A) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTAATAGTAGCCATTCCATAAAGATAATAATAAATGAAGAATTAAATGAGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCA... | GACTCTGTCTCAAAAATAACAATAATCTTGTGACCTTAGGCAAATTACTCTGTGTTGTAATTTCCTCATTCATAAAATAGGGTAATAGTAGCCATTCCATAAAGATAATAATAAATGAAGAATTAAATGAGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCA... |
Task1_train_29972 | Here is a mutation in SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | GAGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTG... | GAGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTG... |
Task1_train_29973 | This sequence variant lies in SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental and epileptic encephalopathy, 85, with or without midline brain defects | AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGG... | AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGG... |
Task1_train_29974 | A mutation in SMC1A (structural maintenance of chromosomes 1A), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGG... | AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGG... |
Task1_train_29975 | A sequence alteration has been identified in SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGG... | AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGG... |
Task1_train_29976 | The gene SMC1A (structural maintenance of chromosomes 1A) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGG... | AGTGGATACATGTAAAGAACATTGCCTATCATACAGTAAGTGCTCAACAGATGTGAGCTACTGTCATTATCATTGTCATTATCATTAAGATTATCATGGCCAGGCGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGTGGATCACAAGGTCAGGAGCTCGAGACCAGCCTGGCCAACGTAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTTGGACATGGTGGCGCACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGTGG... |
Task1_train_29977 | This gene mutation involves SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | AAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGC... | AAATATTCTATTTGTCTAAACTGCAAGTCAAGAAATGTGCCTGGTTCTTACAAAAGCAAGTTAGGAGAATAACAGAGAAATGAGTATAGGTACTGAACTCCGGGCTCAGAGGAACCCTAATAAACAGCACGGCCTCTTGGTTTCCCACAAGTTGCAGGCCCAGGTCTGCCTCTTACTTGATCTCCTTCTCAATCTGCTGCTGCTCCCGCATCATTTTGCCCAGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGC... |
Task1_train_29978 | This variant affects the gene SMC1A (structural maintenance of chromosomes 1A) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Congenital muscular hypertrophy-cerebral syndrome | AGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTC... | AGCTCCTTCTTCTTCTCCTTCAGTTCATCCTCCACCTTGTCCATACGCTTCTTGTCCTTCTCGATCTCCTTGTTCTTTGAGGCCAGTTCCTTGTTGAGCTTCTCAATTTCCACTTCATTATGGTAAAGCTTAAAGAGCTGCAGCTGTACCTGAGCCCGTACTACCTCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTC... |
Task1_train_29979 | This mutation is located in gene SMC1A (structural maintenance of chromosomes 1A) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Wiedemann-Steiner syndrome | TCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCAC... | TCATCCTTCAGGCGCTGGTACCGGTCAGCCTGTGCAAACAGGGGAATGGTGGCAGGGGTGCATCGATAAGGCACTGGCTCCATCCTGGTCCCTCAGAGCCAAGAGGTAGCTTGGCCACCTACCTCTTCTTTCTCCTGCTTTGCTTCCTTGCGTTCAGCCGCAATATTTTTCTTGCGATGGTAATTAAACTGTGTGTCCTCTTCAGCCTTCACCATTTCCTTCTTTCGCTTGTCATACTCCTGCGCCAGCTCCCCAGAACGACTAATCTCTTCAAATAGAGCTGTCCTCTCTTTGGGGTTCTTCATGGCAATAGATTCCAC... |
Task1_train_29980 | This variant impacts the gene HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; HSD10 mitochondrial disease | AAGCCTTCCTCTTTTCCACCATCCAAAACCCTCTTAATACCCTGTGTACATCCCTGCCATTGCTCTTGCCAGATTGTGGTCTATGTTTGATCTGTGTCCCCAACTAGACAGGGAGTTCTCTGAGGACAGGATTTAATTCGATGGTATCATTAGAACCCAGCACATGGCCCTTAGACTGAGATTCAGAGATATGAAATGATTTACCCAAAATCACACAGCTCAGAAGCAGCAGAACTGACATTGGGACCCAGGTCCATTGGAGGCATCTTTTAGTTATGCGCTTGAGAAATCGTTGTTGCTGCACCTAGTTCCTTCCACAT... | AAGCCTTCCTCTTTTCCACCATCCAAAACCCTCTTAATACCCTGTGTACATCCCTGCCATTGCTCTTGCCAGATTGTGGTCTATGTTTGATCTGTGTCCCCAACTAGACAGGGAGTTCTCTGAGGACAGGATTTAATTCGATGGTATCATTAGAACCCAGCACATGGCCCTTAGACTGAGATTCAGAGATATGAAATGATTTACCCAAAATCACACAGCTCAGAAGCAGCAGAACTGACATTGGGACCCAGGTCCATTGGAGGCATCTTTTAGTTATGCGCTTGAGAAATCGTTGTTGCTGCACCTAGTTCCTTCCACAT... |
Task1_train_29981 | The following genetic variant occurs in HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; HSD10 mitochondrial disease | TTCCTCTTTTCCACCATCCAAAACCCTCTTAATACCCTGTGTACATCCCTGCCATTGCTCTTGCCAGATTGTGGTCTATGTTTGATCTGTGTCCCCAACTAGACAGGGAGTTCTCTGAGGACAGGATTTAATTCGATGGTATCATTAGAACCCAGCACATGGCCCTTAGACTGAGATTCAGAGATATGAAATGATTTACCCAAAATCACACAGCTCAGAAGCAGCAGAACTGACATTGGGACCCAGGTCCATTGGAGGCATCTTTTAGTTATGCGCTTGAGAAATCGTTGTTGCTGCACCTAGTTCCTTCCACATCCCTA... | TTCCTCTTTTCCACCATCCAAAACCCTCTTAATACCCTGTGTACATCCCTGCCATTGCTCTTGCCAGATTGTGGTCTATGTTTGATCTGTGTCCCCAACTAGACAGGGAGTTCTCTGAGGACAGGATTTAATTCGATGGTATCATTAGAACCCAGCACATGGCCCTTAGACTGAGATTCAGAGATATGAAATGATTTACCCAAAATCACACAGCTCAGAAGCAGCAGAACTGACATTGGGACCCAGGTCCATTGGAGGCATCTTTTAGTTATGCGCTTGAGAAATCGTTGTTGCTGCACCTAGTTCCTTCCACATCCCTA... |
Task1_train_29982 | Here is a variant affecting HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; HSD10 mitochondrial disease | TAGCCATATTCTTCCTCTTACATCCCCTCTTAAATCAGCATCAGCCCTCTCATCTGAGTACTCCCCCTTCACTGAAGGCCCCTCTTAGGGTACAAGTCACTTCTCCCCACCTCCAGAAGCAGGATGACTTGAGAATAGAACATTGCCCTCTCATCCTCCGCTTCCCAGTCTAAAGGCTTCCTGAAGGCAGAGAAGTTCCCTGCCCATTCTCCCCAACACATATTAGGGGCATTGAAAGGCCATGCAGTATCTGTTCTTTCTCCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGG... | TAGCCATATTCTTCCTCTTACATCCCCTCTTAAATCAGCATCAGCCCTCTCATCTGAGTACTCCCCCTTCACTGAAGGCCCCTCTTAGGGTACAAGTCACTTCTCCCCACCTCCAGAAGCAGGATGACTTGAGAATAGAACATTGCCCTCTCATCCTCCGCTTCCCAGTCTAAAGGCTTCCTGAAGGCAGAGAAGTTCCCTGCCCATTCTCCCCAACACATATTAGGGGCATTGAAAGGCCATGCAGTATCTGTTCTTTCTCCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGG... |
Task1_train_29983 | With a mutation on Chromosome X in gene HSD17B10 (hydroxysteroid 17-beta dehydrogenase 10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; HSD10 mitochondrial disease | CCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGA... | CCTTGAGATGGAAGAGTAGGGCCATGTTCCCCCCTCCCCTGTGACAGAGTTCCCTGAGGTTGGGCACCCAAATGTTTGCATTTGGGGGCTCCACCAGGCAGCTGTGCAGGCTGGGCGTCAGCGCTGTGAGCGTCAGCGTGAACAGAAGGCCAACCTTGCGGAGATCCAGCACCAGAGCACGAGTGACCTACTGACTGAAAACCCCCAGGTCGCCCAACACCCTATGGCTCCCTACCGGGTCCTGCCCTATTGCTGGAAGGGCATGACTCCAGAGCAGCAAGCTGCCATCAGGAAAGAGCAGGAAGTACAACGCTCTAAGA... |
Task1_train_29984 | This gene mutation involves HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CTCTCCTGACTGCAGAAACTGACTCTGAAGGAGGAAGTTGCACCAGTGGTGGAGGCAGGTGGGCAAGCGGGTAGGGCAGGGATGGTTTCCTGGAGAATCCATCTTTTCTCCAGATGCCTAGCATGTGCTTAAGAGTTTTTTGTTTTTTTTTTTAAGTTTGAAAAAAACTCCATTGTGAAAAGTGAGTTATGAAGAGTGCTCTTTATTTGAAACCTCCACAACACAGACGCCAATCTTGTCTCGCATTGAATCATTAGCTGTGCACATCAACACATTCCAAGCACAAATTAAGAAATGCAAACAGAACAAAAAAATATATA... | CTCTCCTGACTGCAGAAACTGACTCTGAAGGAGGAAGTTGCACCAGTGGTGGAGGCAGGTGGGCAAGCGGGTAGGGCAGGGATGGTTTCCTGGAGAATCCATCTTTTCTCCAGATGCCTAGCATGTGCTTAAGAGTTTTTTGTTTTTTTTTTTAAGTTTGAAAAAAACTCCATTGTGAAAAGTGAGTTATGAAGAGTGCTCTTTATTTGAAACCTCCACAACACAGACGCCAATCTTGTCTCGCATTGAATCATTAGCTGTGCACATCAACACATTCCAAGCACAAATTAAGAAATGCAAACAGAACAAAAAAATATATA... |
Task1_train_29985 | This is a variant in HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GCAGAAACTGACTCTGAAGGAGGAAGTTGCACCAGTGGTGGAGGCAGGTGGGCAAGCGGGTAGGGCAGGGATGGTTTCCTGGAGAATCCATCTTTTCTCCAGATGCCTAGCATGTGCTTAAGAGTTTTTTGTTTTTTTTTTTAAGTTTGAAAAAAACTCCATTGTGAAAAGTGAGTTATGAAGAGTGCTCTTTATTTGAAACCTCCACAACACAGACGCCAATCTTGTCTCGCATTGAATCATTAGCTGTGCACATCAACACATTCCAAGCACAAATTAAGAAATGCAAACAGAACAAAAAAATATATATATATATAATT... | GCAGAAACTGACTCTGAAGGAGGAAGTTGCACCAGTGGTGGAGGCAGGTGGGCAAGCGGGTAGGGCAGGGATGGTTTCCTGGAGAATCCATCTTTTCTCCAGATGCCTAGCATGTGCTTAAGAGTTTTTTGTTTTTTTTTTTAAGTTTGAAAAAAACTCCATTGTGAAAAGTGAGTTATGAAGAGTGCTCTTTATTTGAAACCTCCACAACACAGACGCCAATCTTGTCTCGCATTGAATCATTAGCTGTGCACATCAACACATTCCAAGCACAAATTAAGAAATGCAAACAGAACAAAAAAATATATATATATATAATT... |
Task1_train_29986 | Chromosome X houses a mutation in gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Global developmental delay | CCAAGAGAAGTCTGCTATGCTTCAGGAGAACAAAGAGTTAGATATAGGTAGACTGTCTTCTACATGCAACTTCCTCTAAGAGTACTACTGGTTTATTTGGTATCACACAAACTAGCGTTGCCTAGGGTAAGAGGACCATATGAGGAGGGATGCCAGCAGCAGCTCACCTGAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGATCATCGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATAGAAGCCTTCTAA... | CCAAGAGAAGTCTGCTATGCTTCAGGAGAACAAAGAGTTAGATATAGGTAGACTGTCTTCTACATGCAACTTCCTCTAAGAGTACTACTGGTTTATTTGGTATCACACAAACTAGCGTTGCCTAGGGTAAGAGGACCATATGAGGAGGGATGCCAGCAGCAGCTCACCTGAATAGAGTTGGACTGGTACTTGTGGTATTCAGTGTTGGATTTCAGATCATCGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATAGAAGCCTTCTAA... |
Task1_train_29987 | This variant lies on Chromosome X and affects the gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Intellectual disability, X-linked syndromic, Turner type | CGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATAGAAGCCTTCTAAGAAAGCCGCCAACTGCTTGCGGATGGCTCCTGGTGAGATAACCAAAAAGCCAAATGACTTCTAAACTCACACAACCGTAGAGGTCAGAGATCCCCCATCTGGCTCCCATCTACCACTGTTAGCTGGGACTACAGGCATGCACCACCACAACTGGTTAATTCTGCCCAGGCTAGTCTCAACCCCCTGGGCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAA... | CGATGTCAATGGTGGGCAGTCCTGATATAAGCAGCTCTAACTCCTGCTCAGTGAAGATGGAAATGAGGCGCTTTGGAATGATCTCATAGAAGCCTTCTAAGAAAGCCGCCAACTGCTTGCGGATGGCTCCTGGTGAGATAACCAAAAAGCCAAATGACTTCTAAACTCACACAACCGTAGAGGTCAGAGATCCCCCATCTGGCTCCCATCTACCACTGTTAGCTGGGACTACAGGCATGCACCACCACAACTGGTTAATTCTGCCCAGGCTAGTCTCAACCCCCTGGGCTCAAGCTATCCTCCTGCCTCAGCCTCCCAAA... |
Task1_train_29988 | This mutation occurs in HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | ACGGTGGAGCCACCGCTTGCATGCTTCTCGGTATGTTTACGCCCCCCTGAACGCTGGATCTGAAATATATTAGTCCTGCAGCCTAGGGCTGCATCCATGGATACTGAGAGCCAGGAAAGCTGGTTGGAGCTCTTTGACTCCATCTTGTGTAGCAGGTCCAGGGGACGGTTCTCATGGCTACTTGACCCACAGCTCTTGCTCGACTTTTTGCCCTTTTCCTCACTTGTAGTGAGTTTGGGTGTTTCAATGCATAGCTCACTCTCACTGCTGCGCTGCAAGATGGAGAGCAGACTGCGGATGACCCAGTGGCGGGTCTGGGC... | ACGGTGGAGCCACCGCTTGCATGCTTCTCGGTATGTTTACGCCCCCCTGAACGCTGGATCTGAAATATATTAGTCCTGCAGCCTAGGGCTGCATCCATGGATACTGAGAGCCAGGAAAGCTGGTTGGAGCTCTTTGACTCCATCTTGTGTAGCAGGTCCAGGGGACGGTTCTCATGGCTACTTGACCCACAGCTCTTGCTCGACTTTTTGCCCTTTTCCTCACTTGTAGTGAGTTTGGGTGTTTCAATGCATAGCTCACTCTCACTGCTGCGCTGCAAGATGGAGAGCAGACTGCGGATGACCCAGTGGCGGGTCTGGGC... |
Task1_train_29989 | This variant affects the gene HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Intellectual disability, X-linked syndromic, Turner type | GGGGTCCTCTTGTCAGATCCCAGACGAGTGATGTAGTTTGATCTTTTGCTAAATACATATAGGAGATTGAGGACTGCCAGCACCACTTGCATATCAGAGGAAGCCAATAAAGTTGTCAAATGCTAAAGGGACAAAAAAGGGCAAAGCTCAAGGTATCAGGCACAACTGGCCTTGAAAACAAAACAAAATGTACTTGTCAACATTTACAAAGCTATCAAGAAGTTTAGTCACAACAATACAAAAAATATATAAGTATTTGTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC... | GGGGTCCTCTTGTCAGATCCCAGACGAGTGATGTAGTTTGATCTTTTGCTAAATACATATAGGAGATTGAGGACTGCCAGCACCACTTGCATATCAGAGGAAGCCAATAAAGTTGTCAAATGCTAAAGGGACAAAAAAGGGCAAAGCTCAAGGTATCAGGCACAACTGGCCTTGAAAACAAAACAAAATGTACTTGTCAACATTTACAAAGCTATCAAGAAGTTTAGTCACAACAATACAAAAAATATATAAGTATTTGTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC... |
Task1_train_29990 | This sequence variant lies in HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Inborn genetic diseases | GGGGTCCTCTTGTCAGATCCCAGACGAGTGATGTAGTTTGATCTTTTGCTAAATACATATAGGAGATTGAGGACTGCCAGCACCACTTGCATATCAGAGGAAGCCAATAAAGTTGTCAAATGCTAAAGGGACAAAAAAGGGCAAAGCTCAAGGTATCAGGCACAACTGGCCTTGAAAACAAAACAAAATGTACTTGTCAACATTTACAAAGCTATCAAGAAGTTTAGTCACAACAATACAAAAAATATATAAGTATTTGTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC... | GGGGTCCTCTTGTCAGATCCCAGACGAGTGATGTAGTTTGATCTTTTGCTAAATACATATAGGAGATTGAGGACTGCCAGCACCACTTGCATATCAGAGGAAGCCAATAAAGTTGTCAAATGCTAAAGGGACAAAAAAGGGCAAAGCTCAAGGTATCAGGCACAACTGGCCTTGAAAACAAAACAAAATGTACTTGTCAACATTTACAAAGCTATCAAGAAGTTTAGTCACAACAATACAAAAAATATATAAGTATTTGTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC... |
Task1_train_29991 | Assess the clinical impact of this variant on gene PHF8 (PHD finger protein 8), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Syndromic X-linked intellectual disability Siderius type | GAGATAAATAACATAATGAACATTCTCTGGTATTAAATAGCAGTGATGTTGCACAACCTTGTAAATATACAAAGAACTGAATTGTACCCTTTAAAATGGTAAATTTTACAATATTTAAGATGTATCTCAATTTTTCAAAACCTCATTTAACTTAATGAAAATACAACATGTCAATATTTGTGTGACACACCTAAATCAATGCTGAGAGGGAAATTTAGGGAAAGCCTGAAATCAATAAACTAAGCTCTCATCTCAAGACTAGAAAAAGAACAAAATAAACCCAAAGCAAGCAGAGGGAAGGAAAAATAAAGATAAAAGCA... | GAGATAAATAACATAATGAACATTCTCTGGTATTAAATAGCAGTGATGTTGCACAACCTTGTAAATATACAAAGAACTGAATTGTACCCTTTAAAATGGTAAATTTTACAATATTTAAGATGTATCTCAATTTTTCAAAACCTCATTTAACTTAATGAAAATACAACATGTCAATATTTGTGTGACACACCTAAATCAATGCTGAGAGGGAAATTTAGGGAAAGCCTGAAATCAATAAACTAAGCTCTCATCTCAAGACTAGAAAAAGAACAAAATAAACCCAAAGCAAGCAGAGGGAAGGAAAAATAAAGATAAAAGCA... |
Task1_train_29992 | A variant has been detected on Chromosome X in WNK3 (WNK lysine deficient protein kinase 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Neurodevelopmental disorder | AATACAAAAAATTAGCCGGGCATGGTGGCACGTGCCTGTAGTCCCACCTACTCGGGAGGCTGTGGCAGAAGAATCGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACATAATGAGACTCCATCTCAAAAAAAACAAAACAAAACGAAACAAAACAAAACAAAATGAAAAAACAATAAGTTGTCTCTAGCTGGAGAAATAACAAGTAATTTTTCACTTTCTTTTTCATAACTTTATGGGCTTTATTTTAAAATAAGCAAGTAACATTTTGATAATTAAATTTTTGG... | AATACAAAAAATTAGCCGGGCATGGTGGCACGTGCCTGTAGTCCCACCTACTCGGGAGGCTGTGGCAGAAGAATCGTTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACATAATGAGACTCCATCTCAAAAAAAACAAAACAAAACGAAACAAAACAAAACAAAATGAAAAAACAATAAGTTGTCTCTAGCTGGAGAAATAACAAGTAATTTTTCACTTTCTTTTTCATAACTTTATGGGCTTTATTTTAAAATAAGCAAGTAACATTTTGATAATTAAATTTTTGG... |
Task1_train_29993 | This variant impacts the gene WNK3 (WNK lysine deficient protein kinase 3) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Prieto syndrome | TAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTAAAGCCTGGCGACAGACTGTGTCTCAAAAAAAAAAAAAAAAGGTATTAATTTTAAAAGGATTTAAAAAACCAATACCTACTAATGTTAAGCTACCTGAAACAATCTTTCACAGCCTGTCTTGAGCTGCCCAACTGGATATGAAGCAGTCCTCCTTTGAACAACACTTTGCTTCTACCTTCCTTATGTCCCTTACTATACTCTCA... | TAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTAAAGCCTGGCGACAGACTGTGTCTCAAAAAAAAAAAAAAAAGGTATTAATTTTAAAAGGATTTAAAAAACCAATACCTACTAATGTTAAGCTACCTGAAACAATCTTTCACAGCCTGTCTTGAGCTGCCCAACTGGATATGAAGCAGTCCTCCTTTGAACAACACTTTGCTTCTACCTTCCTTATGTCCCTTACTATACTCTCA... |
Task1_train_29994 | The gene WNK3 (WNK lysine deficient protein kinase 3) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Neurodevelopmental disorder | TAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTAAAGCCTGGCGACAGACTGTGTCTCAAAAAAAAAAAAAAAAGGTATTAATTTTAAAAGGATTTAAAAAACCAATACCTACTAATGTTAAGCTACCTGAAACAATCTTTCACAGCCTGTCTTGAGCTGCCCAACTGGATATGAAGCAGTCCTCCTTTGAACAACACTTTGCTTCTACCTTCCTTATGTCCCTTACTATACTCTCA... | TAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTATTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCCCGCCACTGCACTAAAGCCTGGCGACAGACTGTGTCTCAAAAAAAAAAAAAAAAGGTATTAATTTTAAAAGGATTTAAAAAACCAATACCTACTAATGTTAAGCTACCTGAAACAATCTTTCACAGCCTGTCTTGAGCTGCCCAACTGGATATGAAGCAGTCCTCCTTTGAACAACACTTTGCTTCTACCTTCCTTATGTCCCTTACTATACTCTCA... |
Task1_train_29995 | Here is a mutation in WNK3 (WNK lysine deficient protein kinase 3) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Prieto syndrome | GTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAG... | GTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAG... |
Task1_train_29996 | This alteration occurs within gene WNK3 (WNK lysine deficient protein kinase 3) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurodevelopmental disorder | GTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAG... | GTCCCGTGATGAAAATATTGTCACACTTCAGATCCCGGTGAATAATAGGAGGAGTCCTAGTGTGCAAGAACTGCAACCCCTTTAAAATTTGCCTGCACCAGCTCCTTAAGACCTTTGGTTTCATGACTTTAAATCGTTTTAAGTACCTATACAAAGAAACAAAAGACCATGTGTAAACAAACATATCCAACTTATTATATGAACACTATTAAGGTAAGTTACATAAGCAAACAACTTATGCACTATGATTCCCATCACTGAGTTGTTTTCTATTGTCTGTTATGGCAAAACAAAAATTTAATCTAATACTTCATTCTTAG... |
Task1_train_29997 | This alteration in TSR2 (TSR2 ribosome maturation factor) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | CAGTAGAGGGCCTGTTGCATAGTATGGTTTTTAAAAAAATCTTCATTCAATTTCTAGCTTTGGAGATGACATTAGGCAGAGTCATCTCTCTCAAGAAAGTATACTATCCATTGAGGATCCACACACGTAAATAGTTACAACATTGATAGATTTTCTGATAAAGAGGAGCTCAGGGTGCATGGGGTAACAGGATGGGGAGACAGCTTCTTAGTGGAGGTGGTGAATTGGGCTGGGTCTTAGTGAGAAGGAGTTAACTAGGTGGGGGAAGCAGAGAGAGCAACACTCAAGTTCTGTGGCATGAGGGTATAATGTGTTATATT... | CAGTAGAGGGCCTGTTGCATAGTATGGTTTTTAAAAAAATCTTCATTCAATTTCTAGCTTTGGAGATGACATTAGGCAGAGTCATCTCTCTCAAGAAAGTATACTATCCATTGAGGATCCACACACGTAAATAGTTACAACATTGATAGATTTTCTGATAAAGAGGAGCTCAGGGTGCATGGGGTAACAGGATGGGGAGACAGCTTCTTAGTGGAGGTGGTGAATTGGGCTGGGTCTTAGTGAGAAGGAGTTAACTAGGTGGGGGAAGCAGAGAGAGCAACACTCAAGTTCTGTGGCATGAGGGTATAATGTGTTATATT... |
Task1_train_29998 | The gene FGD1 (FYVE, RhoGEF and PH domain containing 1), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GTACTGACACTAGTACACTAGATGGTCTAGCCTACGACACACCTAGGCTATAAGGTACAGCCTATGGCTCTTAGGCTACAAACCTGTAAAGCATGTTACAGTTGTACTGAATATTGTATTAATTTGTAGCACACTAATTATTTGGGTATGTAAACATATCTAAACCTAGAAAAGGTATAGTAAAGACAGGCGTAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTTCGAAACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAG... | GTACTGACACTAGTACACTAGATGGTCTAGCCTACGACACACCTAGGCTATAAGGTACAGCCTATGGCTCTTAGGCTACAAACCTGTAAAGCATGTTACAGTTGTACTGAATATTGTATTAATTTGTAGCACACTAATTATTTGGGTATGTAAACATATCTAAACCTAGAAAAGGTATAGTAAAGACAGGCGTAGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGATCAGGAGTTCGAAACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAG... |
Task1_train_29999 | This alteration in FGD1 (FYVE, RhoGEF and PH domain containing 1) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Aarskog syndrome | TGGACCCTATACTTGCTGTGGCCTCTGCCTGGAACATGCTCAACCCCAACAGGCATGTGCCTACCTTCTTTTTATTCAGGTTTTGACTCACTGTCTTCTAGTCAGACAGGCCACCCAATCTCAAGTAGGCTCTCCAGCCACTGTCATGCCACCCTCTTCTAATTCTCTGAATTATACTCAGCACCTATCTAATATTCTACTGTGTATTTATTTACTTATTTATTTATTCTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCACAGCTCAATGCAACCTCTGCCTCCCGAGTTCGAGTGATT... | TGGACCCTATACTTGCTGTGGCCTCTGCCTGGAACATGCTCAACCCCAACAGGCATGTGCCTACCTTCTTTTTATTCAGGTTTTGACTCACTGTCTTCTAGTCAGACAGGCCACCCAATCTCAAGTAGGCTCTCCAGCCACTGTCATGCCACCCTCTTCTAATTCTCTGAATTATACTCAGCACCTATCTAATATTCTACTGTGTATTTATTTACTTATTTATTTATTCTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCTCAATCACAGCTCAATGCAACCTCTGCCTCCCGAGTTCGAGTGATT... |
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