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_29300 | This alteration in MBTPS2 (membrane bound transcription factor peptidase, site 2) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AACAGATCATGTAATAGGAAGAAAAGATCTCATTCAGAAAGTAATGTGACATATAAAAAATAAAAAACTAACATTTTAAAAGAAGTACACAGGGCCTATATAGAGAAACTACAAATCTGTACTGAGAGATGTAGAAGATTTCAGTAAACAGATGTCGTGTTCCTATGTCAGAAATGTAAAATTATGGATTTACCCCTAGTTATTGCAGTCATTGCAGTGACATTAGAAATCCTAATGTGGGCCAGGCGTAGTGGCTCACACCTGTAATCCTAGCGCTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCA... | AACAGATCATGTAATAGGAAGAAAAGATCTCATTCAGAAAGTAATGTGACATATAAAAAATAAAAAACTAACATTTTAAAAGAAGTACACAGGGCCTATATAGAGAAACTACAAATCTGTACTGAGAGATGTAGAAGATTTCAGTAAACAGATGTCGTGTTCCTATGTCAGAAATGTAAAATTATGGATTTACCCCTAGTTATTGCAGTCATTGCAGTGACATTAGAAATCCTAATGTGGGCCAGGCGTAGTGGCTCACACCTGTAATCCTAGCGCTTTGGGAGGCCGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCA... |
Task1_train_29301 | A variant was discovered on Chromosome X, affecting MBTPS2 (membrane bound transcription factor peptidase, site 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; IFAP syndrome 1, with or without BRESHECK syndrome | TTTATAAAGTAAGGTGGAGCTGAATCCATGCCTGCCTATGGAGAGTGACACATTTTTCCTTCCCTACCATTTATGCCCAGGTCAAATAGGTGATCTCTCAGATGTCCTCTGAGAGTTTATTAAATTTATACAAGCTCCCCAAAACAGGCAAGAGCAACATACCCTAGAGAATGCCAGGATGCATGGGGATGTAACTGTAATTTATGTGTGACACATGACTTTCATATGAATATACTTTCAAAACTGGGCCAGCATAATCATTTTAGCAGTGGCAGCATCATTGGACTAAGTTCTTTATGGCTAAAGATCATGTAGTCTAA... | TTTATAAAGTAAGGTGGAGCTGAATCCATGCCTGCCTATGGAGAGTGACACATTTTTCCTTCCCTACCATTTATGCCCAGGTCAAATAGGTGATCTCTCAGATGTCCTCTGAGAGTTTATTAAATTTATACAAGCTCCCCAAAACAGGCAAGAGCAACATACCCTAGAGAATGCCAGGATGCATGGGGATGTAACTGTAATTTATGTGTGACACATGACTTTCATATGAATATACTTTCAAAACTGGGCCAGCATAATCATTTTAGCAGTGGCAGCATCATTGGACTAAGTTCTTTATGGCTAAAGATCATGTAGTCTAA... |
Task1_train_29302 | Mutation context: Chromosome X, Gene MBTPS2 (membrane bound transcription factor peptidase, site 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Osteogenesis imperfecta, type 19 | TGTACTGTGAGTTCTGACTAATTACAGGATAGTTTTAAAATGTTTTGAACAAAAACAGGATTATGGAATCCACAGAGTAGATGAGACTTTAAATCCCCTCATCTTAATCCTTGGTTTAGCCATGAAGAAAAAAAAAAGACCTGAAAGAGGTTAAGTAGTATAATAGTAGGAGTAAATGTAATTTTAAGGTTATACCTCTTTGAAAGGGTAAGGACTCTTAATGTAAATTTCTTACTCTCGCCTCAAAATGTAAGTACACACTGGGACGTATTTTTTCATTCTGCTGTTTTTATTAGATGTTCTAGAAGTATTGATTGCTT... | TGTACTGTGAGTTCTGACTAATTACAGGATAGTTTTAAAATGTTTTGAACAAAAACAGGATTATGGAATCCACAGAGTAGATGAGACTTTAAATCCCCTCATCTTAATCCTTGGTTTAGCCATGAAGAAAAAAAAAAGACCTGAAAGAGGTTAAGTAGTATAATAGTAGGAGTAAATGTAATTTTAAGGTTATACCTCTTTGAAAGGGTAAGGACTCTTAATGTAAATTTCTTACTCTCGCCTCAAAATGTAAGTACACACTGGGACGTATTTTTTCATTCTGCTGTTTTTATTAGATGTTCTAGAAGTATTGATTGCTT... |
Task1_train_29303 | A genomic change on Chromosome X affects MBTPS2 (membrane bound transcription factor peptidase, site 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Olmsted syndrome, X-linked | GACTAATTACAGGATAGTTTTAAAATGTTTTGAACAAAAACAGGATTATGGAATCCACAGAGTAGATGAGACTTTAAATCCCCTCATCTTAATCCTTGGTTTAGCCATGAAGAAAAAAAAAAGACCTGAAAGAGGTTAAGTAGTATAATAGTAGGAGTAAATGTAATTTTAAGGTTATACCTCTTTGAAAGGGTAAGGACTCTTAATGTAAATTTCTTACTCTCGCCTCAAAATGTAAGTACACACTGGGACGTATTTTTTCATTCTGCTGTTTTTATTAGATGTTCTAGAAGTATTGATTGCTTTTATATATGAGGTAT... | GACTAATTACAGGATAGTTTTAAAATGTTTTGAACAAAAACAGGATTATGGAATCCACAGAGTAGATGAGACTTTAAATCCCCTCATCTTAATCCTTGGTTTAGCCATGAAGAAAAAAAAAAGACCTGAAAGAGGTTAAGTAGTATAATAGTAGGAGTAAATGTAATTTTAAGGTTATACCTCTTTGAAAGGGTAAGGACTCTTAATGTAAATTTCTTACTCTCGCCTCAAAATGTAAGTACACACTGGGACGTATTTTTTCATTCTGCTGTTTTTATTAGATGTTCTAGAAGTATTGATTGCTTTTATATATGAGGTAT... |
Task1_train_29304 | This genomic variant is located on Chromosome X, within the MBTPS2 (membrane bound transcription factor peptidase, site 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; IFAP syndrome 1, with or without BRESHECK syndrome | ACAAAAACAGGATTATGGAATCCACAGAGTAGATGAGACTTTAAATCCCCTCATCTTAATCCTTGGTTTAGCCATGAAGAAAAAAAAAAGACCTGAAAGAGGTTAAGTAGTATAATAGTAGGAGTAAATGTAATTTTAAGGTTATACCTCTTTGAAAGGGTAAGGACTCTTAATGTAAATTTCTTACTCTCGCCTCAAAATGTAAGTACACACTGGGACGTATTTTTTCATTCTGCTGTTTTTATTAGATGTTCTAGAAGTATTGATTGCTTTTATATATGAGGTATATGGCCTGCATATGTTTAGGAAGGGCTTTCTCA... | ACAAAAACAGGATTATGGAATCCACAGAGTAGATGAGACTTTAAATCCCCTCATCTTAATCCTTGGTTTAGCCATGAAGAAAAAAAAAAGACCTGAAAGAGGTTAAGTAGTATAATAGTAGGAGTAAATGTAATTTTAAGGTTATACCTCTTTGAAAGGGTAAGGACTCTTAATGTAAATTTCTTACTCTCGCCTCAAAATGTAAGTACACACTGGGACGTATTTTTTCATTCTGCTGTTTTTATTAGATGTTCTAGAAGTATTGATTGCTTTTATATATGAGGTATATGGCCTGCATATGTTTAGGAAGGGCTTTCTCA... |
Task1_train_29305 | Here is a genetic alteration in MBTPS2 (membrane bound transcription factor peptidase, site 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Osteogenesis imperfecta, type 19 | CCTGAAAGAGGTTAAGTAGTATAATAGTAGGAGTAAATGTAATTTTAAGGTTATACCTCTTTGAAAGGGTAAGGACTCTTAATGTAAATTTCTTACTCTCGCCTCAAAATGTAAGTACACACTGGGACGTATTTTTTCATTCTGCTGTTTTTATTAGATGTTCTAGAAGTATTGATTGCTTTTATATATGAGGTATATGGCCTGCATATGTTTAGGAAGGGCTTTCTCAATCAGTTTAATCTGCTAGCCCAATTTTTAACCATATGGTAGAATTCATAATGCTGTTGATTCTCTGGTATGAATAATATTTATTATTCCTT... | CCTGAAAGAGGTTAAGTAGTATAATAGTAGGAGTAAATGTAATTTTAAGGTTATACCTCTTTGAAAGGGTAAGGACTCTTAATGTAAATTTCTTACTCTCGCCTCAAAATGTAAGTACACACTGGGACGTATTTTTTCATTCTGCTGTTTTTATTAGATGTTCTAGAAGTATTGATTGCTTTTATATATGAGGTATATGGCCTGCATATGTTTAGGAAGGGCTTTCTCAATCAGTTTAATCTGCTAGCCCAATTTTTAACCATATGGTAGAATTCATAATGCTGTTGATTCTCTGGTATGAATAATATTTATTATTCCTT... |
Task1_train_29306 | Here is a variant affecting MBTPS2 (membrane bound transcription factor peptidase, site 2) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | AGGTTAAGTAGTATAATAGTAGGAGTAAATGTAATTTTAAGGTTATACCTCTTTGAAAGGGTAAGGACTCTTAATGTAAATTTCTTACTCTCGCCTCAAAATGTAAGTACACACTGGGACGTATTTTTTCATTCTGCTGTTTTTATTAGATGTTCTAGAAGTATTGATTGCTTTTATATATGAGGTATATGGCCTGCATATGTTTAGGAAGGGCTTTCTCAATCAGTTTAATCTGCTAGCCCAATTTTTAACCATATGGTAGAATTCATAATGCTGTTGATTCTCTGGTATGAATAATATTTATTATTCCTTATTTTTCT... | AGGTTAAGTAGTATAATAGTAGGAGTAAATGTAATTTTAAGGTTATACCTCTTTGAAAGGGTAAGGACTCTTAATGTAAATTTCTTACTCTCGCCTCAAAATGTAAGTACACACTGGGACGTATTTTTTCATTCTGCTGTTTTTATTAGATGTTCTAGAAGTATTGATTGCTTTTATATATGAGGTATATGGCCTGCATATGTTTAGGAAGGGCTTTCTCAATCAGTTTAATCTGCTAGCCCAATTTTTAACCATATGGTAGAATTCATAATGCTGTTGATTCTCTGGTATGAATAATATTTATTATTCCTTATTTTTCT... |
Task1_train_29307 | This variant impacts the gene SMS (spermine synthase) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | TGCTACCATTATACCCACTACAGTGGGAGAGAGTGAAATCTTCTGATTTTTAAATGGCAACTGATTTACACTTTTAAAAAGTCTGTGCAGGGACTGGGTGCGGTGGTCCACGCCTGTAATCCCAGCACTTCGGGAGGCTGTGGCAGGTGGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAATATGGTGAAACCCCATCGCTACCAAAAATGTACAAAAATTAGTTGGACATGGGCCGGGCGCGGCGGATCACAAGGTCAGGAGATTGAGACCATCTTGGCTAACACAGTGAAACCCCGTCTCTACTACAAATA... | TGCTACCATTATACCCACTACAGTGGGAGAGAGTGAAATCTTCTGATTTTTAAATGGCAACTGATTTACACTTTTAAAAAGTCTGTGCAGGGACTGGGTGCGGTGGTCCACGCCTGTAATCCCAGCACTTCGGGAGGCTGTGGCAGGTGGATTGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAATATGGTGAAACCCCATCGCTACCAAAAATGTACAAAAATTAGTTGGACATGGGCCGGGCGCGGCGGATCACAAGGTCAGGAGATTGAGACCATCTTGGCTAACACAGTGAAACCCCGTCTCTACTACAAATA... |
Task1_train_29308 | The variant affects gene SMS (spermine synthase), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | AATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAACAGTTCTCCACCTCAGCCTTCCAAGTGGCTGGAATTACAGGCACTCACCACCACATCCAGATAATTTTGTGTTTTTAATAGAGACGTGGTTTCACCACGTTGCCCAGGCTGGTCTCGAACTCCTGGCTCAAGCCATCCACCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGCTTAGTTTTTAAGAGTTTTCTACCTGGTCTCCTTCCTCTCTCACTTGGTCAACTGGTACCCACCCCGAGGTGCCTGTCCTGAAA... | AATCTTGGCTTACTGCAACCTCTGCCTCCCGGGTTCAAACAGTTCTCCACCTCAGCCTTCCAAGTGGCTGGAATTACAGGCACTCACCACCACATCCAGATAATTTTGTGTTTTTAATAGAGACGTGGTTTCACCACGTTGCCCAGGCTGGTCTCGAACTCCTGGCTCAAGCCATCCACCTGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGCGCCTGGCCAGCTTAGTTTTTAAGAGTTTTCTACCTGGTCTCCTTCCTCTCTCACTTGGTCAACTGGTACCCACCCCGAGGTGCCTGTCCTGAAA... |
Task1_train_29309 | Given this variant in gene SMS (spermine synthase) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Syndromic X-linked intellectual disability Snyder type | ATTAACTTTGATTTTAAAAGGTTCTTGCAATTTACACAGTATACCTAAGGCCTGGGCTATAATCTACCTGAATTGGTGTAGTCCAGTTTCATTTTTCAGCAGTGAAGGTTGAAACGAGTTTGGTAGGGTGCTCTACAGTACCTCCTGGTAGCCCGTTATAGGGCTACCAGCGAGATGCCCTTTAATGCTAGGTTGAGCACTTCATCAGGGTAATGGCATTTACATCCTGTTAAGATCCTTCTTTCTTTGCTAGTCTTTAAAAAAACCATAGAGTTACAATGTAGGAAAGAGCTCTTCACCTTAGCCAAGGCACTATTGAC... | ATTAACTTTGATTTTAAAAGGTTCTTGCAATTTACACAGTATACCTAAGGCCTGGGCTATAATCTACCTGAATTGGTGTAGTCCAGTTTCATTTTTCAGCAGTGAAGGTTGAAACGAGTTTGGTAGGGTGCTCTACAGTACCTCCTGGTAGCCCGTTATAGGGCTACCAGCGAGATGCCCTTTAATGCTAGGTTGAGCACTTCATCAGGGTAATGGCATTTACATCCTGTTAAGATCCTTCTTTCTTTGCTAGTCTTTAAAAAAACCATAGAGTTACAATGTAGGAAAGAGCTCTTCACCTTAGCCAAGGCACTATTGAC... |
Task1_train_29310 | Chromosome X houses a mutation in gene SMS (spermine synthase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Syndromic X-linked intellectual disability Snyder type | TTGATTTTAAAAGGTTCTTGCAATTTACACAGTATACCTAAGGCCTGGGCTATAATCTACCTGAATTGGTGTAGTCCAGTTTCATTTTTCAGCAGTGAAGGTTGAAACGAGTTTGGTAGGGTGCTCTACAGTACCTCCTGGTAGCCCGTTATAGGGCTACCAGCGAGATGCCCTTTAATGCTAGGTTGAGCACTTCATCAGGGTAATGGCATTTACATCCTGTTAAGATCCTTCTTTCTTTGCTAGTCTTTAAAAAAACCATAGAGTTACAATGTAGGAAAGAGCTCTTCACCTTAGCCAAGGCACTATTGACACAATTG... | TTGATTTTAAAAGGTTCTTGCAATTTACACAGTATACCTAAGGCCTGGGCTATAATCTACCTGAATTGGTGTAGTCCAGTTTCATTTTTCAGCAGTGAAGGTTGAAACGAGTTTGGTAGGGTGCTCTACAGTACCTCCTGGTAGCCCGTTATAGGGCTACCAGCGAGATGCCCTTTAATGCTAGGTTGAGCACTTCATCAGGGTAATGGCATTTACATCCTGTTAAGATCCTTCTTTCTTTGCTAGTCTTTAAAAAAACCATAGAGTTACAATGTAGGAAAGAGCTCTTCACCTTAGCCAAGGCACTATTGACACAATTG... |
Task1_train_29311 | Here is a genetic alteration in SMS (spermine synthase) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Syndromic X-linked intellectual disability Snyder type | GCTATAATCTACCTGAATTGGTGTAGTCCAGTTTCATTTTTCAGCAGTGAAGGTTGAAACGAGTTTGGTAGGGTGCTCTACAGTACCTCCTGGTAGCCCGTTATAGGGCTACCAGCGAGATGCCCTTTAATGCTAGGTTGAGCACTTCATCAGGGTAATGGCATTTACATCCTGTTAAGATCCTTCTTTCTTTGCTAGTCTTTAAAAAAACCATAGAGTTACAATGTAGGAAAGAGCTCTTCACCTTAGCCAAGGCACTATTGACACAATTGAGAACAGGCACTGTTTAGTTTCAGTGGGTTTGCCTGTAGTGCAGTAAT... | GCTATAATCTACCTGAATTGGTGTAGTCCAGTTTCATTTTTCAGCAGTGAAGGTTGAAACGAGTTTGGTAGGGTGCTCTACAGTACCTCCTGGTAGCCCGTTATAGGGCTACCAGCGAGATGCCCTTTAATGCTAGGTTGAGCACTTCATCAGGGTAATGGCATTTACATCCTGTTAAGATCCTTCTTTCTTTGCTAGTCTTTAAAAAAACCATAGAGTTACAATGTAGGAAAGAGCTCTTCACCTTAGCCAAGGCACTATTGACACAATTGAGAACAGGCACTGTTTAGTTTCAGTGGGTTTGCCTGTAGTGCAGTAAT... |
Task1_train_29312 | The gene SMS (spermine synthase) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Syndromic X-linked intellectual disability Snyder type | CTCGTTTTCTTTGTGTTTGGGTTAGACTTGCCAAGCCCCTTTTCCAGGTCTTTTTTTTCCTGTCATTTAGTGTCCTCTGCTGGTACCTTCTAGTACATTCATCCTGTGAAAAATACCGGGTATTTACAAAAGAATGAATGAAAAAATCATCATTTTGCAGCCTCTGTAGTAGTAACTGGTTCAGGCCAGAATCTTCTGCATGCTAAAACCACTGGTAAAGGTTTGTTGGGGGGTGAGGACTTCTACCTAGTTTCAGAGCACCACCCCACAGCCTGCTTAGTAATTTCAGAGGGTGAAAAAGGTACCTTTGCAAATGGAGA... | CTCGTTTTCTTTGTGTTTGGGTTAGACTTGCCAAGCCCCTTTTCCAGGTCTTTTTTTTCCTGTCATTTAGTGTCCTCTGCTGGTACCTTCTAGTACATTCATCCTGTGAAAAATACCGGGTATTTACAAAAGAATGAATGAAAAAATCATCATTTTGCAGCCTCTGTAGTAGTAACTGGTTCAGGCCAGAATCTTCTGCATGCTAAAACCACTGGTAAAGGTTTGTTGGGGGGTGAGGACTTCTACCTAGTTTCAGAGCACCACCCCACAGCCTGCTTAGTAATTTCAGAGGGTGAAAAAGGTACCTTTGCAAATGGAGA... |
Task1_train_29313 | Given this context: Chromosome X, gene SMS (spermine synthase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Intellectual disability | GCTCAAGCGATCCTCCCACCTCAACTTCCTGAGTAGCCGGGACTACAGGCAGATACCACTAGGCCCAGCTGATTTTTCTTTTTTTTCTAGAGACGGGCTTTCACCATGTCGCCCAGGCTGCTCTAGTACTCCTGGGCTCCATTGTTCCGCCCACCTCAACTTCCCAAAGTACTGGGATTACAGGTGTTGGGCCACTGACCCCAGCCTGGCAAACTCTTAAACTCTTGGTTTCTGACTATTATATTTAATTTTTCTTTTACTTAATGTATTTTTTTTTTGAATTAGAAAACTAAAAGATGACAGTAACTCCTGTTTAGTTC... | GCTCAAGCGATCCTCCCACCTCAACTTCCTGAGTAGCCGGGACTACAGGCAGATACCACTAGGCCCAGCTGATTTTTCTTTTTTTTCTAGAGACGGGCTTTCACCATGTCGCCCAGGCTGCTCTAGTACTCCTGGGCTCCATTGTTCCGCCCACCTCAACTTCCCAAAGTACTGGGATTACAGGTGTTGGGCCACTGACCCCAGCCTGGCAAACTCTTAAACTCTTGGTTTCTGACTATTATATTTAATTTTTCTTTTACTTAATGTATTTTTTTTTTGAATTAGAAAACTAAAAGATGACAGTAACTCCTGTTTAGTTC... |
Task1_train_29314 | A variant was discovered on Chromosome X, affecting SMS (spermine synthase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Syndromic X-linked intellectual disability Snyder type | GTGGTGTGTGTTTTCTTCTTTGAAACTTCTTGACAATGTTGGGAAAGAACAAATTGAAACTTTCCTATTTTCTTACCACAGTCTGTGTAAGGAAGTCTTCCCATATAACCTCTATAAAGAGAGAGTGTGGTGTCAATTTTAAGATGGCAAAGCCATTTACTGTGCACCTTGGTGGCATTTTCATTCTATAGCTTCCCCAGTGGTGATGTGTTCTAAAAACAACTGGGCAGTTTTCTATTTGTGAATCTTAAATTACACGTGTGGTGTTTATATGCTCTTACGGTGAACTTGATGTTGAAACCAAATTACATGCTGGCGAA... | GTGGTGTGTGTTTTCTTCTTTGAAACTTCTTGACAATGTTGGGAAAGAACAAATTGAAACTTTCCTATTTTCTTACCACAGTCTGTGTAAGGAAGTCTTCCCATATAACCTCTATAAAGAGAGAGTGTGGTGTCAATTTTAAGATGGCAAAGCCATTTACTGTGCACCTTGGTGGCATTTTCATTCTATAGCTTCCCCAGTGGTGATGTGTTCTAAAAACAACTGGGCAGTTTTCTATTTGTGAATCTTAAATTACACGTGTGGTGTTTATATGCTCTTACGGTGAACTTGATGTTGAAACCAAATTACATGCTGGCGAA... |
Task1_train_29315 | The gene PHEX (phosphate regulating endopeptidase 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 | GAAGGGCCAGGAAATGTCGATGTTGGAGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAA... | GAAGGGCCAGGAAATGTCGATGTTGGAGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAA... |
Task1_train_29316 | The following genetic variant occurs in PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | AAGGGCCAGGAAATGTCGATGTTGGAGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAAT... | AAGGGCCAGGAAATGTCGATGTTGGAGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAAT... |
Task1_train_29317 | This sequence change occurs on Chromosome X, altering PHEX (phosphate regulating endopeptidase X-linked). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | AGGGCCAGGAAATGTCGATGTTGGAGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAATC... | AGGGCCAGGAAATGTCGATGTTGGAGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAATC... |
Task1_train_29318 | Here is a genetic alteration in PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | AGGGCCAGGAAATGTCGATGTTGGAGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAATC... | AGGGCCAGGAAATGTCGATGTTGGAGCTGCAACATTGAACATGGTTCCTGACTTTGTGGAACTCATGGTCTAAGATGTGTTCTAGAGTGAGGTCCAAAAACTCTTGGGAGAATCCCATACTAGGGGCCAAAGTCCTGCTAGGGTGTGTTATGGAATAACAGCAACAAAATAATGTCAACAGCCAATGAGCACAGGATAACTACAACACACCATGATGTCATAACTTGGACAAAGGCTTGTGACCCCCTGACTTTGGCGCAACATGAAATGAGCAGAAAGTAAGGTATATTATGGAATAAGCCCCAAAACTTGAGAGAATC... |
Task1_train_29319 | Given this variant in gene PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TGTTGTTGGGGGAGGTTTGAAAATGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAA... | TGTTGTTGGGGGAGGTTTGAAAATGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAA... |
Task1_train_29320 | A variant was discovered in gene PHEX (phosphate regulating endopeptidase X-linked), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | TGTTGTTGGGGGAGGTTTGAAAATGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAA... | TGTTGTTGGGGGAGGTTTGAAAATGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAA... |
Task1_train_29321 | This alteration in PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TGTTGTTGGGGGAGGTTTGAAAATGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAA... | TGTTGTTGGGGGAGGTTTGAAAATGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAA... |
Task1_train_29322 | This sequence change occurs on Chromosome X, altering PHEX (phosphate regulating endopeptidase X-linked). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAATGTCATCTTTTCAATGTCATTAA... | TGGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAATGTCATCTTTTCAATGTCATTAA... |
Task1_train_29323 | This is a variant in PHEX (phosphate regulating endopeptidase X-linked), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | GGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAATGTCATCTTTTCAATGTCATTAAA... | GGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAATGTCATCTTTTCAATGTCATTAAA... |
Task1_train_29324 | A variant has been detected on Chromosome X in PHEX (phosphate regulating endopeptidase X-linked). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | GGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAATGTCATCTTTTCAATGTCATTAAA... | GGTGGGGATTTTGAGGCCCTATAGAAATTAGAATGTTTTTATATTATTCACTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAATGTCATCTTTTCAATGTCATTAAA... |
Task1_train_29325 | This variant impacts the gene PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAATGTCATCTTTTCAATGTCATTAAAATATTGTCTGGTTTTTTAAAAAAATCAATTGGTACATAACTTTGTGCTAG... | CTTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAATGTCATCTTTTCAATGTCATTAAAATATTGTCTGGTTTTTTAAAAAAATCAATTGGTACATAACTTTGTGCTAG... |
Task1_train_29326 | This mutation is located in gene PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAATGTCATCTTTTCAATGTCATTAAAATATTGTCTGGTTTTTTAAAAAAATCAATTGGTACATAACTTTGTGCTAGA... | TTCATTGAAGACAAAAGGCTGTTTGAAATTTTTGTAGAAAGTCTAGGCTGGAGAAATATCTAGCCTTATTTTTAAACCTGGAGGAACCACACATGTAACCAAACTGTAAGATATGTATCTAAATTGACACAGATTGTACTTTTTTGGGGCAGTTCATTCATATTTAGCTGAAATCTCTTTGGGTTTTCATTACTTCAAACAAAAATATATTCTGGCATTATTTAAAGTATGAAAATTGCCCAGAATGTCATCTTTTCAATGTCATTAAAATATTGTCTGGTTTTTTAAAAAAATCAATTGGTACATAACTTTGTGCTAGA... |
Task1_train_29327 | Consider a variant on Chromosome X in gene PHEX (phosphate regulating endopeptidase X-linked). Determine its clinical classification and disease relevance. | Pathogenic; not provided | GTTTTAAAAGCCAAATTCTGGTACAGAAACCAGAATTTTGACATATACAAATTATTGATATTTGTGCATGGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTC... | GTTTTAAAAGCCAAATTCTGGTACAGAAACCAGAATTTTGACATATACAAATTATTGATATTTGTGCATGGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTC... |
Task1_train_29328 | This sequence change occurs on Chromosome X, altering PHEX (phosphate regulating endopeptidase X-linked). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | ATTTGTGCATGGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTCTAATGACTGTGTAAGCAATATAGTGGAAGGGTACAGGAGCCGATTTGAATGGAAATATA... | ATTTGTGCATGGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTCTAATGACTGTGTAAGCAATATAGTGGAAGGGTACAGGAGCCGATTTGAATGGAAATATA... |
Task1_train_29329 | A variant was discovered in gene PHEX (phosphate regulating endopeptidase X-linked), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | TTTGTGCATGGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTCTAATGACTGTGTAAGCAATATAGTGGAAGGGTACAGGAGCCGATTTGAATGGAAATATAT... | TTTGTGCATGGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTCTAATGACTGTGTAAGCAATATAGTGGAAGGGTACAGGAGCCGATTTGAATGGAAATATAT... |
Task1_train_29330 | A variant was discovered on Chromosome X, affecting PHEX (phosphate regulating endopeptidase X-linked). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | GCATGGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTCTAATGACTGTGTAAGCAATATAGTGGAAGGGTACAGGAGCCGATTTGAATGGAAATATATGTGGA... | GCATGGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTCTAATGACTGTGTAAGCAATATAGTGGAAGGGTACAGGAGCCGATTTGAATGGAAATATATGTGGA... |
Task1_train_29331 | Gene PHEX (phosphate regulating endopeptidase X-linked) 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 | GGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTCTAATGACTGTGTAAGCAATATAGTGGAAGGGTACAGGAGCCGATTTGAATGGAAATATATGTGGATATG... | GGTTAGTGTTTTGGGATTGCCCTATTTAGCATCTGCTGATCCTCTTTTTCCCTCCCTGTGATAGATAGCATGCCTTGGAAGCAGACACAGGTAAATATTTAATGCTTTTAGTTTTTTTTGCTCCTGTGGCTTGTTTGGCCCTTAGGGCATTCATGTTTTTTAGCCTGTGGAGTGCTTATAGCATCAGAACATCATCACAACCCTAAATGAAATTTGGATTATTTACTTCTAAGTATGTTTCCCAAATAGTCTAATGACTGTGTAAGCAATATAGTGGAAGGGTACAGGAGCCGATTTGAATGGAAATATATGTGGATATG... |
Task1_train_29332 | This mutation occurs in PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TGTTTCCCCAAATGCCTTGACAAGGCAGTTTGACATAGTTCGGTGAAGGCAGTGCCCTGGTGCTGCAGTCACCATAGGGATTTTTCATCTTGGCTTCATGTTGGTAGATTGATACTCTCAAGTACGTTCAAGGTTCTCTTTTTCGGGAGAGGGTTGTTTTCATTGAGTCCTGGCTTTCCTCTTTCCTTATTTAATGAAATAGTGACAACTATCATTTTCTACCTTCAAACATTATTATTAGTGATTTTATAAATAGAAAATTATTTTCCAGGTGGGCCTATGTCTGTGCTGGCAACCATTGTGTACACACGGACTCTCTT... | TGTTTCCCCAAATGCCTTGACAAGGCAGTTTGACATAGTTCGGTGAAGGCAGTGCCCTGGTGCTGCAGTCACCATAGGGATTTTTCATCTTGGCTTCATGTTGGTAGATTGATACTCTCAAGTACGTTCAAGGTTCTCTTTTTCGGGAGAGGGTTGTTTTCATTGAGTCCTGGCTTTCCTCTTTCCTTATTTAATGAAATAGTGACAACTATCATTTTCTACCTTCAAACATTATTATTAGTGATTTTATAAATAGAAAATTATTTTCCAGGTGGGCCTATGTCTGTGCTGGCAACCATTGTGTACACACGGACTCTCTT... |
Task1_train_29333 | A genetic alteration is present in PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CTTGACAAGGCAGTTTGACATAGTTCGGTGAAGGCAGTGCCCTGGTGCTGCAGTCACCATAGGGATTTTTCATCTTGGCTTCATGTTGGTAGATTGATACTCTCAAGTACGTTCAAGGTTCTCTTTTTCGGGAGAGGGTTGTTTTCATTGAGTCCTGGCTTTCCTCTTTCCTTATTTAATGAAATAGTGACAACTATCATTTTCTACCTTCAAACATTATTATTAGTGATTTTATAAATAGAAAATTATTTTCCAGGTGGGCCTATGTCTGTGCTGGCAACCATTGTGTACACACGGACTCTCTTAGATGTTTAGGACTT... | CTTGACAAGGCAGTTTGACATAGTTCGGTGAAGGCAGTGCCCTGGTGCTGCAGTCACCATAGGGATTTTTCATCTTGGCTTCATGTTGGTAGATTGATACTCTCAAGTACGTTCAAGGTTCTCTTTTTCGGGAGAGGGTTGTTTTCATTGAGTCCTGGCTTTCCTCTTTCCTTATTTAATGAAATAGTGACAACTATCATTTTCTACCTTCAAACATTATTATTAGTGATTTTATAAATAGAAAATTATTTTCCAGGTGGGCCTATGTCTGTGCTGGCAACCATTGTGTACACACGGACTCTCTTAGATGTTTAGGACTT... |
Task1_train_29334 | A genomic change on Chromosome X affects PHEX (phosphate regulating endopeptidase X-linked). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | AGTTCGGTGAAGGCAGTGCCCTGGTGCTGCAGTCACCATAGGGATTTTTCATCTTGGCTTCATGTTGGTAGATTGATACTCTCAAGTACGTTCAAGGTTCTCTTTTTCGGGAGAGGGTTGTTTTCATTGAGTCCTGGCTTTCCTCTTTCCTTATTTAATGAAATAGTGACAACTATCATTTTCTACCTTCAAACATTATTATTAGTGATTTTATAAATAGAAAATTATTTTCCAGGTGGGCCTATGTCTGTGCTGGCAACCATTGTGTACACACGGACTCTCTTAGATGTTTAGGACTTTGCATGTGTAAACGGGCAAGT... | AGTTCGGTGAAGGCAGTGCCCTGGTGCTGCAGTCACCATAGGGATTTTTCATCTTGGCTTCATGTTGGTAGATTGATACTCTCAAGTACGTTCAAGGTTCTCTTTTTCGGGAGAGGGTTGTTTTCATTGAGTCCTGGCTTTCCTCTTTCCTTATTTAATGAAATAGTGACAACTATCATTTTCTACCTTCAAACATTATTATTAGTGATTTTATAAATAGAAAATTATTTTCCAGGTGGGCCTATGTCTGTGCTGGCAACCATTGTGTACACACGGACTCTCTTAGATGTTTAGGACTTTGCATGTGTAAACGGGCAAGT... |
Task1_train_29335 | An alteration has been detected in PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | AGATTGATACTCTCAAGTACGTTCAAGGTTCTCTTTTTCGGGAGAGGGTTGTTTTCATTGAGTCCTGGCTTTCCTCTTTCCTTATTTAATGAAATAGTGACAACTATCATTTTCTACCTTCAAACATTATTATTAGTGATTTTATAAATAGAAAATTATTTTCCAGGTGGGCCTATGTCTGTGCTGGCAACCATTGTGTACACACGGACTCTCTTAGATGTTTAGGACTTTGCATGTGTAAACGGGCAAGTTTTCAGGCAATTCGGGTAGGTTTTCCAATCTTGTCTTTCCATTTCCTGTCTAAAGAACTTCTTCCATGT... | AGATTGATACTCTCAAGTACGTTCAAGGTTCTCTTTTTCGGGAGAGGGTTGTTTTCATTGAGTCCTGGCTTTCCTCTTTCCTTATTTAATGAAATAGTGACAACTATCATTTTCTACCTTCAAACATTATTATTAGTGATTTTATAAATAGAAAATTATTTTCCAGGTGGGCCTATGTCTGTGCTGGCAACCATTGTGTACACACGGACTCTCTTAGATGTTTAGGACTTTGCATGTGTAAACGGGCAAGTTTTCAGGCAATTCGGGTAGGTTTTCCAATCTTGTCTTTCCATTTCCTGTCTAAAGAACTTCTTCCATGT... |
Task1_train_29336 | This genomic variant is located on Chromosome X, within the PHEX (phosphate regulating endopeptidase X-linked) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | GGGTTGTTTTCATTGAGTCCTGGCTTTCCTCTTTCCTTATTTAATGAAATAGTGACAACTATCATTTTCTACCTTCAAACATTATTATTAGTGATTTTATAAATAGAAAATTATTTTCCAGGTGGGCCTATGTCTGTGCTGGCAACCATTGTGTACACACGGACTCTCTTAGATGTTTAGGACTTTGCATGTGTAAACGGGCAAGTTTTCAGGCAATTCGGGTAGGTTTTCCAATCTTGTCTTTCCATTTCCTGTCTAAAGAACTTCTTCCATGTCCACAGCATGTTTATTCAACAATGGATAAAACTTCTAATGGGAAA... | GGGTTGTTTTCATTGAGTCCTGGCTTTCCTCTTTCCTTATTTAATGAAATAGTGACAACTATCATTTTCTACCTTCAAACATTATTATTAGTGATTTTATAAATAGAAAATTATTTTCCAGGTGGGCCTATGTCTGTGCTGGCAACCATTGTGTACACACGGACTCTCTTAGATGTTTAGGACTTTGCATGTGTAAACGGGCAAGTTTTCAGGCAATTCGGGTAGGTTTTCCAATCTTGTCTTTCCATTTCCTGTCTAAAGAACTTCTTCCATGTCCACAGCATGTTTATTCAACAATGGATAAAACTTCTAATGGGAAA... |
Task1_train_29337 | This variant affects gene PHEX (phosphate regulating endopeptidase X-linked) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TCCAAAGTGGCTGTGCCATTTTGCATTCTTACCAGTAATACATGAGTGATCCAACTTTTCCACGTCCCCACCAGCAGTTGTCAGATTTTTTTTTCCATTTTAACAGATCTATGGTAGTGTTTTATTGTGGGTTTAATTTACATTTTCCTAATGACTAATGATGTTGGGCATATTTTCGTGTTCTTATTTTCTATCTTCATATGTTCTTTGATGAAGTGTCTGTTAGAATCGTTTGCTCAATTTTAAATTGAGTTGTTTCTTTTCTTATGGTTGAGTTTTGAGGAATCTTTATGTATTCTAGATACACGTCCTTTGTCATA... | TCCAAAGTGGCTGTGCCATTTTGCATTCTTACCAGTAATACATGAGTGATCCAACTTTTCCACGTCCCCACCAGCAGTTGTCAGATTTTTTTTTCCATTTTAACAGATCTATGGTAGTGTTTTATTGTGGGTTTAATTTACATTTTCCTAATGACTAATGATGTTGGGCATATTTTCGTGTTCTTATTTTCTATCTTCATATGTTCTTTGATGAAGTGTCTGTTAGAATCGTTTGCTCAATTTTAAATTGAGTTGTTTCTTTTCTTATGGTTGAGTTTTGAGGAATCTTTATGTATTCTAGATACACGTCCTTTGTCATA... |
Task1_train_29338 | Located on Chromosome X, this mutation impacts PHEX (phosphate regulating endopeptidase X-linked). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TTACCAGTAATACATGAGTGATCCAACTTTTCCACGTCCCCACCAGCAGTTGTCAGATTTTTTTTTCCATTTTAACAGATCTATGGTAGTGTTTTATTGTGGGTTTAATTTACATTTTCCTAATGACTAATGATGTTGGGCATATTTTCGTGTTCTTATTTTCTATCTTCATATGTTCTTTGATGAAGTGTCTGTTAGAATCGTTTGCTCAATTTTAAATTGAGTTGTTTCTTTTCTTATGGTTGAGTTTTGAGGAATCTTTATGTATTCTAGATACACGTCCTTTGTCATATATGTGATTTTCAGATATTTTCCCCATT... | TTACCAGTAATACATGAGTGATCCAACTTTTCCACGTCCCCACCAGCAGTTGTCAGATTTTTTTTTCCATTTTAACAGATCTATGGTAGTGTTTTATTGTGGGTTTAATTTACATTTTCCTAATGACTAATGATGTTGGGCATATTTTCGTGTTCTTATTTTCTATCTTCATATGTTCTTTGATGAAGTGTCTGTTAGAATCGTTTGCTCAATTTTAAATTGAGTTGTTTCTTTTCTTATGGTTGAGTTTTGAGGAATCTTTATGTATTCTAGATACACGTCCTTTGTCATATATGTGATTTTCAGATATTTTCCCCATT... |
Task1_train_29339 | A variant was discovered in gene PHEX (phosphate regulating endopeptidase X-linked), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | ATATGTGGGGGAAACCACCCCCATGATTCAATTATATCCACCTGGCCCTACCCTTGACATGTGGGGATTATTACAATTCAAGGTGAGATTTGGGTGGGGACACAGCCAAACCATATCACCCACCTCACAGGACCCTTCACTGCGTTGGAACCAGTCTCCCTCAAATGCTATGTCCCCAGTTTCTCCGGGCTAGATTTTTCTCTCAGATCTTCAGTTTCCAAGCGTGTAGCAGCTTTATTAAGGAAGTTATTTTGATGTCTTTAATGTTACAGTTCATAATTACATGTTTATCTCCCTCACTGTTTGGGAACCAGACACAG... | ATATGTGGGGGAAACCACCCCCATGATTCAATTATATCCACCTGGCCCTACCCTTGACATGTGGGGATTATTACAATTCAAGGTGAGATTTGGGTGGGGACACAGCCAAACCATATCACCCACCTCACAGGACCCTTCACTGCGTTGGAACCAGTCTCCCTCAAATGCTATGTCCCCAGTTTCTCCGGGCTAGATTTTTCTCTCAGATCTTCAGTTTCCAAGCGTGTAGCAGCTTTATTAAGGAAGTTATTTTGATGTCTTTAATGTTACAGTTCATAATTACATGTTTATCTCCCTCACTGTTTGGGAACCAGACACAG... |
Task1_train_29340 | This variant impacts the gene PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | AAAACTATCCAGAAAACTTTCTCTCAACTCATCATTTTAGAAGGGATTGGATTTCATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATTGTTGGCATTGGCTCAGCTGTTTAACAGTGTTGTCAAAGGCCCAAGTTCTTTCTATCTTTCCATCCTAC... | AAAACTATCCAGAAAACTTTCTCTCAACTCATCATTTTAGAAGGGATTGGATTTCATCTCTGTGTAAATTTGTGTCTTGTAAAACCTGCTCTCAGTCTTGGTTATCATCATCTTTGTCAACAATCACATAAAATATCCCTTGTCTGTGTATTGGGATGCCTTCTGTTACAGGGAACAAAACATCTTTCCAACAGTGGCTTAGAAACTTAAAGCCTATATTCTCACATGACAAAAGTCTAGACATAGGTAATTGTTGGCATTGGCTCAGCTGTTTAACAGTGTTGTCAAAGGCCCAAGTTCTTTCTATCTTTCCATCCTAC... |
Task1_train_29341 | Given this context: Chromosome X, gene PHEX (phosphate regulating endopeptidase X-linked) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TGTTAAAAATATTCCTAATATATTAGTCTATTAGTATATCTCTATAGAAATTAAACATCCATGTATTGGGTGTGTATGCTGAAAAATATTTTACTAGTAGGAGCGCATGTCCACTGTGTCAGAATGTCATACAAATGAGAGTGTAGTTTGTTCTTGATGGGCTTTTAGCATCATCATGTCATATTGCTCTCATGTGATTGGCTCACCAGAAAGCCATTTCAGGAATGTGTGTTATTAGTCACCATGGTAATGGCACAGCTGGGAGGGGAATGGATCATTAAAGATCCATCATCACTATTGAGTTAGAAATTAACTGAGAT... | TGTTAAAAATATTCCTAATATATTAGTCTATTAGTATATCTCTATAGAAATTAAACATCCATGTATTGGGTGTGTATGCTGAAAAATATTTTACTAGTAGGAGCGCATGTCCACTGTGTCAGAATGTCATACAAATGAGAGTGTAGTTTGTTCTTGATGGGCTTTTAGCATCATCATGTCATATTGCTCTCATGTGATTGGCTCACCAGAAAGCCATTTCAGGAATGTGTGTTATTAGTCACCATGGTAATGGCACAGCTGGGAGGGGAATGGATCATTAAAGATCCATCATCACTATTGAGTTAGAAATTAACTGAGAT... |
Task1_train_29342 | An alteration has been detected in PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | GTTAAGTGAATGGTGAATCTTATAAGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTCTACAAAAAATACAAAAATTAGCCGGGCATGGTGTC... | GTTAAGTGAATGGTGAATCTTATAAGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTCTACAAAAAATACAAAAATTAGCCGGGCATGGTGTC... |
Task1_train_29343 | This alteration occurs within gene PHEX (phosphate regulating endopeptidase X-linked) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TTAAGTGAATGGTGAATCTTATAAGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTCTACAAAAAATACAAAAATTAGCCGGGCATGGTGTCA... | TTAAGTGAATGGTGAATCTTATAAGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTCTACAAAAAATACAAAAATTAGCCGGGCATGGTGTCA... |
Task1_train_29344 | This genomic variant is located on Chromosome X, within the PHEX (phosphate regulating endopeptidase X-linked) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | ATAAGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTCTACAAAAAATACAAAAATTAGCCGGGCATGGTGTCACGCACCTGTGGTCCCAGCTA... | ATAAGCTATGATTTCATTCAAGAGGCATTTTAGTTATTAGAGGAACTAATAAGTATAGAAATTCTTAGTGGGCCATTACTCTGGAAGAGTAGTGCAATTATTTTGGATATGCTTTGACCCTATAAAGTCACTAGCATATAAAGTTACTTTAGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAAATTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCTCGTCTCTACAAAAAATACAAAAATTAGCCGGGCATGGTGTCACGCACCTGTGGTCCCAGCTA... |
Task1_train_29345 | This sequence change occurs on Chromosome X, altering PHEX (phosphate regulating endopeptidase X-linked). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TTTGTTCTTATTTACATATGATGGAACCCAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAGTGTTTTTTTTTTCTTGGGTGTCCCATTGAGAAAGCCAAAGCATCTCTGCAGGAGAACTGGATTTCGAGG... | TTTGTTCTTATTTACATATGATGGAACCCAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAGTGTTTTTTTTTTCTTGGGTGTCCCATTGAGAAAGCCAAAGCATCTCTGCAGGAGAACTGGATTTCGAGG... |
Task1_train_29346 | This sequence change occurs on Chromosome X, altering PHEX (phosphate regulating endopeptidase X-linked). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CTTATTTACATATGATGGAACCCAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAGTGTTTTTTTTTTCTTGGGTGTCCCATTGAGAAAGCCAAAGCATCTCTGCAGGAGAACTGGATTTCGAGGGGTTTG... | CTTATTTACATATGATGGAACCCAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAGTGTTTTTTTTTTCTTGGGTGTCCCATTGAGAAAGCCAAAGCATCTCTGCAGGAGAACTGGATTTCGAGGGGTTTG... |
Task1_train_29347 | This mutation occurs in PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | CCAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAGTGTTTTTTTTTTCTTGGGTGTCCCATTGAGAAAGCCAAAGCATCTCTGCAGGAGAACTGGATTTCGAGGGGTTTGTATCCATGAACAGGCAGGGCC... | CCAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAGTGTTTTTTTTTTCTTGGGTGTCCCATTGAGAAAGCCAAAGCATCTCTGCAGGAGAACTGGATTTCGAGGGGTTTGTATCCATGAACAGGCAGGGCC... |
Task1_train_29348 | This gene mutation involves PHEX (phosphate regulating endopeptidase X-linked) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAGTGTTTTTTTTTTCTTGGGTGTCCCATTGAGAAAGCCAAAGCATCTCTGCAGGAGAACTGGATTTCGAGGGGTTTGTATCCATGAACAGGCAGGGCCT... | CAGCCCACTGATTTATAGCTCTGGTTCCCTCACAACTGTTATTGAACTGAAAACATAGCTGAAAACTTATTAAACAGAAAAAACTTATTTTGAGCTTCATGCTGACAATTTATTATAGAACCAAGGAAACATTTCAACGTCTTTCCTTCTAGAGTTAATGTTAACAATTGATTTACAACCCCATGCTCTCAAATGAAAAAGTTCATTCTGGGGCCAAACCCAGTGTTTTTTTTTTCTTGGGTGTCCCATTGAGAAAGCCAAAGCATCTCTGCAGGAGAACTGGATTTCGAGGGGTTTGTATCCATGAACAGGCAGGGCCT... |
Task1_train_29349 | A variant on Chromosome X in gene PHEX (phosphate regulating endopeptidase X-linked) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCATGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCACTGCTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATGTATGTATATATGATTTCTTTTTATTATGAAGCATTTCAAATGTTGGAACATGAGTAAAATAATTTGAACACATCTATTTTAACACATAGTAAACATATTGCCATATTAGCTTTGTACATGCACACACACATTTTAAATGAACAGATGCATTTGAAAT... | TAATCCCAGCTACTCGGGAGGCTGAGGCACAAGAATCGCATGAACCTGGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCACTGCTGCACTCTAGCCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATGTATGTATATATGATTTCTTTTTATTATGAAGCATTTCAAATGTTGGAACATGAGTAAAATAATTTGAACACATCTATTTTAACACATAGTAAACATATTGCCATATTAGCTTTGTACATGCACACACACATTTTAAATGAACAGATGCATTTGAAAT... |
Task1_train_29350 | Located on Chromosome X, this mutation impacts PHEX (phosphate regulating endopeptidase X-linked). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | GAATTGCTTGGTTTTAATCATAACAAGCAGTCACTGAAACTCACAACCATCTAAGTCAGGGTTTGGCCACTATGGCCTGTGGGCCAAATCTCACCTGCTGCCTGTTTTTGTGTGGCCCATGAGCTAAGAATAATTTTTAGAGATAAATGTTTGCAGGTGGTTTGATGATGGGGAAGCCCTAACTTTGTTCTGTTTTTTGTTTTTGTTTTTTAATTAAAATAACTTTTGTTGGTACGTAGTAGTTGTAAATATTTATGGGGTACATGAGATATTTTGATACAGGCCTGCAATGCATAATCATCACATCATGGAAAATGGGA... | GAATTGCTTGGTTTTAATCATAACAAGCAGTCACTGAAACTCACAACCATCTAAGTCAGGGTTTGGCCACTATGGCCTGTGGGCCAAATCTCACCTGCTGCCTGTTTTTGTGTGGCCCATGAGCTAAGAATAATTTTTAGAGATAAATGTTTGCAGGTGGTTTGATGATGGGGAAGCCCTAACTTTGTTCTGTTTTTTGTTTTTGTTTTTTAATTAAAATAACTTTTGTTGGTACGTAGTAGTTGTAAATATTTATGGGGTACATGAGATATTTTGATACAGGCCTGCAATGCATAATCATCACATCATGGAAAATGGGA... |
Task1_train_29351 | A variant was discovered in gene PHEX (phosphate regulating endopeptidase X-linked), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GTTTTAATCATAACAAGCAGTCACTGAAACTCACAACCATCTAAGTCAGGGTTTGGCCACTATGGCCTGTGGGCCAAATCTCACCTGCTGCCTGTTTTTGTGTGGCCCATGAGCTAAGAATAATTTTTAGAGATAAATGTTTGCAGGTGGTTTGATGATGGGGAAGCCCTAACTTTGTTCTGTTTTTTGTTTTTGTTTTTTAATTAAAATAACTTTTGTTGGTACGTAGTAGTTGTAAATATTTATGGGGTACATGAGATATTTTGATACAGGCCTGCAATGCATAATCATCACATCATGGAAAATGGGAGTATCCATCC... | GTTTTAATCATAACAAGCAGTCACTGAAACTCACAACCATCTAAGTCAGGGTTTGGCCACTATGGCCTGTGGGCCAAATCTCACCTGCTGCCTGTTTTTGTGTGGCCCATGAGCTAAGAATAATTTTTAGAGATAAATGTTTGCAGGTGGTTTGATGATGGGGAAGCCCTAACTTTGTTCTGTTTTTTGTTTTTGTTTTTTAATTAAAATAACTTTTGTTGGTACGTAGTAGTTGTAAATATTTATGGGGTACATGAGATATTTTGATACAGGCCTGCAATGCATAATCATCACATCATGGAAAATGGGAGTATCCATCC... |
Task1_train_29352 | Assess the clinical impact of this variant on gene PHEX (phosphate regulating endopeptidase X-linked), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TTTTAATCATAACAAGCAGTCACTGAAACTCACAACCATCTAAGTCAGGGTTTGGCCACTATGGCCTGTGGGCCAAATCTCACCTGCTGCCTGTTTTTGTGTGGCCCATGAGCTAAGAATAATTTTTAGAGATAAATGTTTGCAGGTGGTTTGATGATGGGGAAGCCCTAACTTTGTTCTGTTTTTTGTTTTTGTTTTTTAATTAAAATAACTTTTGTTGGTACGTAGTAGTTGTAAATATTTATGGGGTACATGAGATATTTTGATACAGGCCTGCAATGCATAATCATCACATCATGGAAAATGGGAGTATCCATCCC... | TTTTAATCATAACAAGCAGTCACTGAAACTCACAACCATCTAAGTCAGGGTTTGGCCACTATGGCCTGTGGGCCAAATCTCACCTGCTGCCTGTTTTTGTGTGGCCCATGAGCTAAGAATAATTTTTAGAGATAAATGTTTGCAGGTGGTTTGATGATGGGGAAGCCCTAACTTTGTTCTGTTTTTTGTTTTTGTTTTTTAATTAAAATAACTTTTGTTGGTACGTAGTAGTTGTAAATATTTATGGGGTACATGAGATATTTTGATACAGGCCTGCAATGCATAATCATCACATCATGGAAAATGGGAGTATCCATCCC... |
Task1_train_29353 | Here’s a variant in PHEX (phosphate regulating endopeptidase X-linked) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hypophosphatemic rickets | TTTTAATCATAACAAGCAGTCACTGAAACTCACAACCATCTAAGTCAGGGTTTGGCCACTATGGCCTGTGGGCCAAATCTCACCTGCTGCCTGTTTTTGTGTGGCCCATGAGCTAAGAATAATTTTTAGAGATAAATGTTTGCAGGTGGTTTGATGATGGGGAAGCCCTAACTTTGTTCTGTTTTTTGTTTTTGTTTTTTAATTAAAATAACTTTTGTTGGTACGTAGTAGTTGTAAATATTTATGGGGTACATGAGATATTTTGATACAGGCCTGCAATGCATAATCATCACATCATGGAAAATGGGAGTATCCATCCC... | TTTTAATCATAACAAGCAGTCACTGAAACTCACAACCATCTAAGTCAGGGTTTGGCCACTATGGCCTGTGGGCCAAATCTCACCTGCTGCCTGTTTTTGTGTGGCCCATGAGCTAAGAATAATTTTTAGAGATAAATGTTTGCAGGTGGTTTGATGATGGGGAAGCCCTAACTTTGTTCTGTTTTTTGTTTTTGTTTTTTAATTAAAATAACTTTTGTTGGTACGTAGTAGTTGTAAATATTTATGGGGTACATGAGATATTTTGATACAGGCCTGCAATGCATAATCATCACATCATGGAAAATGGGAGTATCCATCCC... |
Task1_train_29354 | A change on Chromosome X affects gene PHEX (phosphate regulating endopeptidase X-linked). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | AGTCAGGGTTTGGCCACTATGGCCTGTGGGCCAAATCTCACCTGCTGCCTGTTTTTGTGTGGCCCATGAGCTAAGAATAATTTTTAGAGATAAATGTTTGCAGGTGGTTTGATGATGGGGAAGCCCTAACTTTGTTCTGTTTTTTGTTTTTGTTTTTTAATTAAAATAACTTTTGTTGGTACGTAGTAGTTGTAAATATTTATGGGGTACATGAGATATTTTGATACAGGCCTGCAATGCATAATCATCACATCATGGAAAATGGGAGTATCCATCCCCTCAAGCATTTATCCTTTGTGTTACAAACAATCCGCTTATAT... | AGTCAGGGTTTGGCCACTATGGCCTGTGGGCCAAATCTCACCTGCTGCCTGTTTTTGTGTGGCCCATGAGCTAAGAATAATTTTTAGAGATAAATGTTTGCAGGTGGTTTGATGATGGGGAAGCCCTAACTTTGTTCTGTTTTTTGTTTTTGTTTTTTAATTAAAATAACTTTTGTTGGTACGTAGTAGTTGTAAATATTTATGGGGTACATGAGATATTTTGATACAGGCCTGCAATGCATAATCATCACATCATGGAAAATGGGAGTATCCATCCCCTCAAGCATTTATCCTTTGTGTTACAAACAATCCGCTTATAT... |
Task1_train_29355 | Here is a variant affecting PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | GGTTATATAGAACCACCATTTCCCTTCTAAATTAAGGACTTGCTTTCCTGTCCTCATTTCTCCTCATGTGTTCTGACATGGAGGAGAGAGAGAAAAAAAAAAGTTAAGAAGAGGGAGGAAGAACATTTTGACTTATGAAAGAGCTTTCAGTCTCATGGGGCCTGGAACAGTTGCTCTGGAGCAGTGAAGGACACTACAGAAGGCTTCTCTCTCTCTTTTTGGTTATGATTCTTTGCTCTATCAGCTGTGATGACTTGTAAGTACAGTTCCTAGGATCAACCCAGGGTGCAAAATTTAGTGGTGAGTTGCAAGGGCAAAGC... | GGTTATATAGAACCACCATTTCCCTTCTAAATTAAGGACTTGCTTTCCTGTCCTCATTTCTCCTCATGTGTTCTGACATGGAGGAGAGAGAGAAAAAAAAAAGTTAAGAAGAGGGAGGAAGAACATTTTGACTTATGAAAGAGCTTTCAGTCTCATGGGGCCTGGAACAGTTGCTCTGGAGCAGTGAAGGACACTACAGAAGGCTTCTCTCTCTCTTTTTGGTTATGATTCTTTGCTCTATCAGCTGTGATGACTTGTAAGTACAGTTCCTAGGATCAACCCAGGGTGCAAAATTTAGTGGTGAGTTGCAAGGGCAAAGC... |
Task1_train_29356 | The variant affects gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | TTTCCCTTCTAAATTAAGGACTTGCTTTCCTGTCCTCATTTCTCCTCATGTGTTCTGACATGGAGGAGAGAGAGAAAAAAAAAAGTTAAGAAGAGGGAGGAAGAACATTTTGACTTATGAAAGAGCTTTCAGTCTCATGGGGCCTGGAACAGTTGCTCTGGAGCAGTGAAGGACACTACAGAAGGCTTCTCTCTCTCTTTTTGGTTATGATTCTTTGCTCTATCAGCTGTGATGACTTGTAAGTACAGTTCCTAGGATCAACCCAGGGTGCAAAATTTAGTGGTGAGTTGCAAGGGCAAAGCAAAGCATGTCTCCCACTC... | TTTCCCTTCTAAATTAAGGACTTGCTTTCCTGTCCTCATTTCTCCTCATGTGTTCTGACATGGAGGAGAGAGAGAAAAAAAAAAGTTAAGAAGAGGGAGGAAGAACATTTTGACTTATGAAAGAGCTTTCAGTCTCATGGGGCCTGGAACAGTTGCTCTGGAGCAGTGAAGGACACTACAGAAGGCTTCTCTCTCTCTTTTTGGTTATGATTCTTTGCTCTATCAGCTGTGATGACTTGTAAGTACAGTTCCTAGGATCAACCCAGGGTGCAAAATTTAGTGGTGAGTTGCAAGGGCAAAGCAAAGCATGTCTCCCACTC... |
Task1_train_29357 | The gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | CTATTGCCTTTTGCAAATAGGAAGCTTGTTGGAGCAGCCCTGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAA... | CTATTGCCTTTTGCAAATAGGAAGCTTGTTGGAGCAGCCCTGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAA... |
Task1_train_29358 | This gene mutation involves PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CTTTTGCAAATAGGAAGCTTGTTGGAGCAGCCCTGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGA... | CTTTTGCAAATAGGAAGCTTGTTGGAGCAGCCCTGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGA... |
Task1_train_29359 | Here is a mutation in PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | AGGAAGCTTGTTGGAGCAGCCCTGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGG... | AGGAAGCTTGTTGGAGCAGCCCTGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGG... |
Task1_train_29360 | A variant was discovered in gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | CAGCCCTGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGGAAGCATTTTTTCAAAT... | CAGCCCTGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGGAAGCATTTTTTCAAAT... |
Task1_train_29361 | This variant lies on Chromosome X and affects the gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | CCCTGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGGAAGCATTTTTTCAAATGCA... | CCCTGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGGAAGCATTTTTTCAAATGCA... |
Task1_train_29362 | Here’s a variant in PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | TGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGGAAGCATTTTTTCAAATGCAAAT... | TGCTTAAAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGGAAGCATTTTTTCAAATGCAAAT... |
Task1_train_29363 | Consider this mutation in PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | AAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGGAAGCATTTTTTCAAATGCAAATTACCTT... | AAGGACATTTATTGCACAGCAATTTCTATAAGCTCCCATTGTTCATGCCTTCAATTCATCCAGTCAACAGCATTGACTGAGGGATGTAGAGGACCAAGTACTTATTCTCAGAGCTGAGAGACCTGGAAAAACTAAATGTTGCAATCTGCACACTGATAGCTACTGCCGCAAAAATTAACACTATGTAAAATTACAAATTTGTCCCACACTGCTATGATAGCTCTATGATTGAAATGAATAATTTCACTCTTACTTCTTTAATGAAGGTTTGCAATGATGGAAAAACAGTAGGAAGCATTTTTTCAAATGCAAATTACCTT... |
Task1_train_29364 | This genomic variant is located on Chromosome X, within the PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | AGAAATTGTTCAGCCCAGGTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTAC... | AGAAATTGTTCAGCCCAGGTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTAC... |
Task1_train_29365 | Here is a genetic alteration in PTCHD1-AS, PHEX (PTCHD1 antisense RNA (head to head)| phosphate regulating endopeptidase X-linked) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTACTGAAGCTAGGAGGGTCCT... | GTACTGGGTTGTTCAAACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTACTGAAGCTAGGAGGGTCCT... |
Task1_train_29366 | A variant was discovered on Chromosome X, affecting PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | AACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTACTGAAGCTAGGAGGGTCCTGAGTGATTACAGTGA... | AACTGCACATCAGTCAATTACTGGAAGGTGGGTTATAACCTCCCAGCGGTCTCCAGATGAGGTGACTCCCATAAGCTAAGGTTGATCTGAGCTGTTAGCAGTTGTGGGAATGGGTGCACAGTTTAGGCAGAAAAGGGGATCTGGTGGGATATCGACATCTGCTACACTCTCGGAGCTTTAGATCCTCATTTGTTGAGCAAGGGTGGTGGTAATTAGCACTTACTTACCTCATACGACTGTGGATAACAAAGAATATACGTAAAGCAGGAATGGTAGCTTTTGTGTACTGAAGCTAGGAGGGTCCTGAGTGATTACAGTGA... |
Task1_train_29367 | This mutation is located in gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GTTATACAAGAGTTGAATGACTTTTCTGTAAAGGGCCAGATAGTAAAGAATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGT... | GTTATACAAGAGTTGAATGACTTTTCTGTAAAGGGCCAGATAGTAAAGAATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGT... |
Task1_train_29368 | This variant lies on Chromosome X and affects the gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TTATACAAGAGTTGAATGACTTTTCTGTAAAGGGCCAGATAGTAAAGAATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTG... | TTATACAAGAGTTGAATGACTTTTCTGTAAAGGGCCAGATAGTAAAGAATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTG... |
Task1_train_29369 | A variant on Chromosome X in gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypophosphatemic rickets | TTATACAAGAGTTGAATGACTTTTCTGTAAAGGGCCAGATAGTAAAGAATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTG... | TTATACAAGAGTTGAATGACTTTTCTGTAAAGGGCCAGATAGTAAAGAATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTG... |
Task1_train_29370 | This variant affects gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | ATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTAGAATATTTGTGTCCTAGCTCATTTAAAGTTTTG... | ATTGAGGCTTTGTGGGGCGTATGGTCTCTGTTACAATATTTAATTCTGCCACTGTAGCAAGAGAGCAAATACAGACTATATGCATGGGCATGGCTGTGTCCCAATAAAACTTGATTTATGAACACCAAAATTTGAATTTCATATAAGTAATTTTCATGTGCCACCACAATATTATTCTTCTTTTGATTTTTCCCCAGTTGTTGAAGTATGTAACATCCAGTCTTACCTTGAAGCCTGTACAAAAACAAGCAGCAGGTTGGATTTGGCGTGTGGGCTGTATTAGTTTAGAATATTTGTGTCCTAGCTCATTTAAAGTTTTG... |
Task1_train_29371 | The gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | CAAAGACTTAAATGTAAGACCTAGGACCATAAAAATCCTAGAAGAAAACCTGGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTG... | CAAAGACTTAAATGTAAGACCTAGGACCATAAAAATCCTAGAAGAAAACCTGGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTG... |
Task1_train_29372 | This variant lies on Chromosome X and affects the gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | CAATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACATTTATGCAGCCAACAA... | CAATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACATTTATGCAGCCAACAA... |
Task1_train_29373 | This alteration occurs within gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | AATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACATTTATGCAGCCAACAAA... | AATACCATTCAGGACATAGGCATGGGCAAGGACTTTATGTCTAAAACACCAAAATCGATGGCAACAAAAGCCAAAATTGACAAATGGAATCTAATTAAGCTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGGCAACCTAGAGGATGGGAGAAACTTTTTGCAATCTACCCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGGACTTACACAAATTTACAAGAAAAAAACAACCCCATGAAAAAGTGAGTGAAGGGTATGAACAGACACTTCTTAAAAGAAGACATTTATGCAGCCAACAAA... |
Task1_train_29374 | Given this variant in gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CTGCTTACTTTTTTGTCCAAAAAAATAGCCTTTATTGTCTTAGGAAAGGATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTA... | CTGCTTACTTTTTTGTCCAAAAAAATAGCCTTTATTGTCTTAGGAAAGGATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTA... |
Task1_train_29375 | Gene PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TTTATTGTCTTAGGAAAGGATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTAT... | TTTATTGTCTTAGGAAAGGATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTAT... |
Task1_train_29376 | This alteration in PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTATAAAACATTAAGTACAAAT... | GATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTATAAAACATTAAGTACAAAT... |
Task1_train_29377 | This gene mutation involves PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | ATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTATAAAACATTAAGTACAAATA... | ATGAGATTTGATGTACTCTGCCTTAAAACACCTAGCGCTCTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTATAAAACATTAAGTACAAATA... |
Task1_train_29378 | This alteration in PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | CTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTATAAAACATTAAGTACAAATAAAATTAAAAGTTAATATTACTCACCCTGTACTCGGTCGT... | CTGGTTTATTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTATAAAACATTAAGTACAAATAAAATTAAAAGTTAATATTACTCACCCTGTACTCGGTCGT... |
Task1_train_29379 | The following genetic variant occurs in PHEX, PTCHD1-AS (phosphate regulating endopeptidase X-linked| PTCHD1 antisense RNA (head to head)) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial X-linked hypophosphatemic vitamin D refractory rickets | TTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTATAAAACATTAAGTACAAATAAAATTAAAAGTTAATATTACTCACCCTGTACTCGGTCGTACAGGTTG... | TTTTGTTTTAAAGAATATCCCCTTTAATACCTCTTGTTCTTTCACACAGTCAACCAGCAAACATGAATGAATGGCCACTTTCTAAATAGCTCTGAACACAAAGGAGGATACAAAGTATTATTCAGCAATTATAATTTATATCTAGAGTTAGAGAGTCTACATTTTGGCTTTCAGGTGGGATCATATTTTGAAACGGTAGCTTATACAAAAAAGGAAAAGGATTATGAATTGCAGTCTTATTTGTCAGAATGTATAAAACATTAAGTACAAATAAAATTAAAAGTTAATATTACTCACCCTGTACTCGGTCGTACAGGTTG... |
Task1_train_29380 | Gene APOO (apolipoprotein O) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cognitive impairment and autistic features | TCAGGAGTTCAGCCTGAGCAACATAGCGAAACTCCGTCTCTACTAAAAATACAAAAATTACCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAAAGGCTAAGGTGAGAGGATCACTTGAGCCCAGGAGGTCCAGGCTGCAATGAGCTATGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAGAAATCAATTAAAAAAAAAATAAGGCCAGGTGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGACACCGAGGCAGGCCGATCACTTGAGGTCAGGAGCTGGAGAC... | TCAGGAGTTCAGCCTGAGCAACATAGCGAAACTCCGTCTCTACTAAAAATACAAAAATTACCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAAAGGCTAAGGTGAGAGGATCACTTGAGCCCAGGAGGTCCAGGCTGCAATGAGCTATGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAGAAATCAATTAAAAAAAAAATAAGGCCAGGTGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGACACCGAGGCAGGCCGATCACTTGAGGTCAGGAGCTGGAGAC... |
Task1_train_29381 | This sequence variant lies in APOO (apolipoprotein O) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; X-linked recessive mitochondrial myopathy | TCAGGAGTTCAGCCTGAGCAACATAGCGAAACTCCGTCTCTACTAAAAATACAAAAATTACCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAAAGGCTAAGGTGAGAGGATCACTTGAGCCCAGGAGGTCCAGGCTGCAATGAGCTATGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAGAAATCAATTAAAAAAAAAATAAGGCCAGGTGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGACACCGAGGCAGGCCGATCACTTGAGGTCAGGAGCTGGAGAC... | TCAGGAGTTCAGCCTGAGCAACATAGCGAAACTCCGTCTCTACTAAAAATACAAAAATTACCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAAAGGCTAAGGTGAGAGGATCACTTGAGCCCAGGAGGTCCAGGCTGCAATGAGCTATGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAGAAATCAATTAAAAAAAAAATAAGGCCAGGTGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGACACCGAGGCAGGCCGATCACTTGAGGTCAGGAGCTGGAGAC... |
Task1_train_29382 | The following genetic variant occurs in APOO (apolipoprotein O) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Lactic acidosis | TCAGGAGTTCAGCCTGAGCAACATAGCGAAACTCCGTCTCTACTAAAAATACAAAAATTACCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAAAGGCTAAGGTGAGAGGATCACTTGAGCCCAGGAGGTCCAGGCTGCAATGAGCTATGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAGAAATCAATTAAAAAAAAAATAAGGCCAGGTGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGACACCGAGGCAGGCCGATCACTTGAGGTCAGGAGCTGGAGAC... | TCAGGAGTTCAGCCTGAGCAACATAGCGAAACTCCGTCTCTACTAAAAATACAAAAATTACCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGAAAGGCTAAGGTGAGAGGATCACTTGAGCCCAGGAGGTCCAGGCTGCAATGAGCTATGATCACACCACTTCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAGAAATCAATTAAAAAAAAAATAAGGCCAGGTGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGACACCGAGGCAGGCCGATCACTTGAGGTCAGGAGCTGGAGAC... |
Task1_train_29383 | With a mutation on Chromosome X in gene EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; MEHMO syndrome | ATTTTCTACAACATAGTGGTTGTCATTTCACCACTATCTAGTTCCAGAACTTTTGTATCAGAACTTTTGTATCACCGCAAAAGGAAACCCCATGCCCATGAAGCGTCAGTCCACATGTTTTCCTCCCCCAGCCCCTTGCAACCCATAATTTGCTTTGTCTCTTTATGGATTTGCCCGCCTATTCTGGATATTTCCAGCTATTCTTATATGCATCTTTTTTATTCTTCATCAACTAGCTGGTAATGAATCTTGCCCTCAGCCTCAGACATCGGAACACCTGGCTGCTATAGAGATCATGAAACTGAAGCATATTTTGATTC... | ATTTTCTACAACATAGTGGTTGTCATTTCACCACTATCTAGTTCCAGAACTTTTGTATCAGAACTTTTGTATCACCGCAAAAGGAAACCCCATGCCCATGAAGCGTCAGTCCACATGTTTTCCTCCCCCAGCCCCTTGCAACCCATAATTTGCTTTGTCTCTTTATGGATTTGCCCGCCTATTCTGGATATTTCCAGCTATTCTTATATGCATCTTTTTTATTCTTCATCAACTAGCTGGTAATGAATCTTGCCCTCAGCCTCAGACATCGGAACACCTGGCTGCTATAGAGATCATGAAACTGAAGCATATTTTGATTC... |
Task1_train_29384 | This mutation occurs in EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; MEHMO syndrome | AGTATGTCTACTAATATAATGTAACAAATTTTCTCTTACAGGGATTTGTATTCATTTTCAGGAGTAAAAACAAACAATATTGCCATCTTTCTAAACAGAATTATCCACTTTCCACTTGTTGCTGACATTTATATGGGGTTTAGGCATCTATTTTATTATAGTAATCTTAATTGTTTTATGTAACAGATACATAGAATAAATTTTATAAAACTGTATAATTTTGATCTTTCTAAATTTTGTCATATAGGTACAGTAGCAGAGGGAGCTCCCATTATTCCAATTTCAGCTCAGCTGAAATACAATATTGAAGTTGTTTGTGA... | AGTATGTCTACTAATATAATGTAACAAATTTTCTCTTACAGGGATTTGTATTCATTTTCAGGAGTAAAAACAAACAATATTGCCATCTTTCTAAACAGAATTATCCACTTTCCACTTGTTGCTGACATTTATATGGGGTTTAGGCATCTATTTTATTATAGTAATCTTAATTGTTTTATGTAACAGATACATAGAATAAATTTTATAAAACTGTATAATTTTGATCTTTCTAAATTTTGTCATATAGGTACAGTAGCAGAGGGAGCTCCCATTATTCCAATTTCAGCTCAGCTGAAATACAATATTGAAGTTGTTTGTGA... |
Task1_train_29385 | Gene EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma), found on Chromosome X, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; MEHMO syndrome | GTATATGCTGTGCTTATATGGCTTTGGGGTATCTAATTCACTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGTGCGATCTCGGCTCACTACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCACGCCGCCACGCCTGGCTAATTTTTTGTATTTTAATAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTTTAACTCCTGAGCTCAGGCATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGA... | GTATATGCTGTGCTTATATGGCTTTGGGGTATCTAATTCACTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTCACCCAGGTTGGAGTGCAGTGGTGCGATCTCGGCTCACTACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGACTACAGGTGCACGCCGCCACGCCTGGCTAATTTTTTGTATTTTAATAGAGACAGGGTTTCACCGTGTTGCCCAGGCTGGTCTTTAACTCCTGAGCTCAGGCATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGA... |
Task1_train_29386 | This alteration occurs within gene PDK3 (pyruvate dehydrogenase kinase 3) located on Chromosome X. Is it associated with a disease or is it a benign variant? | Pathogenic; Charcot-Marie-Tooth disease X-linked dominant 6 | TATGTATAATATGCATCTAAGAAAGGGGAAAACATTCTAGAACTTCAATCAAAAACAACTTTAGGATGATGGCTATGCAGCATGTTTGCAAAGCAATTGATTCTAATTTGAAAAATCTTGAAGAATGGACTGGATACCATGCAGTAGGTATGGAAGCTGGAAGTAGGTATGGAAGCTGGAAGTAGGTATGGAAACTGGAAGTAGGTATGGAAGCTTCCAGTAAGCTGGAAGATCTTAGCGAAATGGCATGGACCAACTATGAAGCAACCCAAAAAGGGTAGCATGATGTTGACCAGTTGGAGGAGTATAAAGAAACTCCA... | TATGTATAATATGCATCTAAGAAAGGGGAAAACATTCTAGAACTTCAATCAAAAACAACTTTAGGATGATGGCTATGCAGCATGTTTGCAAAGCAATTGATTCTAATTTGAAAAATCTTGAAGAATGGACTGGATACCATGCAGTAGGTATGGAAGCTGGAAGTAGGTATGGAAGCTGGAAGTAGGTATGGAAACTGGAAGTAGGTATGGAAGCTTCCAGTAAGCTGGAAGATCTTAGCGAAATGGCATGGACCAACTATGAAGCAACCCAAAAAGGGTAGCATGATGTTGACCAGTTGGAGGAGTATAAAGAAACTCCA... |
Task1_train_29387 | A variant was discovered on Chromosome X, affecting POLA1 (DNA polymerase alpha 1, catalytic subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; X-linked intellectual disability, van Esch type | TAATTATTATAAGCCTTATAGGTGTGGCAGAAATCCAGTCAGCTCTGGCCACTGGATTCCAAAAGCTCTGTCCAAGTTTTTTCCTAGGGTATTAACTCTTCAGATGGAGTTGTTTCTCCCGTACTCCATTTGAGAAAGGTAGAACTCTTTTTTTTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCGATGGCATGATCTTGGCTCACTGCAACCTCAGCTTCCCAGGTTCAAGCGATTGTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTCTGCCACCACGCCTGGCTAATTTTT... | TAATTATTATAAGCCTTATAGGTGTGGCAGAAATCCAGTCAGCTCTGGCCACTGGATTCCAAAAGCTCTGTCCAAGTTTTTTCCTAGGGTATTAACTCTTCAGATGGAGTTGTTTCTCCCGTACTCCATTTGAGAAAGGTAGAACTCTTTTTTTTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCTCAGGCTGGAGTGCGATGGCATGATCTTGGCTCACTGCAACCTCAGCTTCCCAGGTTCAAGCGATTGTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTCTGCCACCACGCCTGGCTAATTTTT... |
Task1_train_29388 | Mutation context: Chromosome X, Gene POLA1 (DNA polymerase alpha 1, catalytic subunit). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; X-linked intellectual disability, van Esch type | GTCTCATCTGGAAAGTCACTGGCCTTTCCCCATGGGCAGCTGCAGCAGTGGTGTGTATCTTTCATTTGTTGCTTTAGCTGTGCAGAGGTTGTCTGCTTTACTCATACCAGTAGCTCATAGTGTTCTGACCCTCTTGCAGTCAGGCAGCCAATATGATTGGAGGACCTGCCACTCTCTGGACTTGCCTTTCAAATAGCTCAGCGTTTAAGTCCTTGTGTGGTTTCAAGACCTGAGGATGGTGGAGTTTCAGTGGTAATACAAACAGGGTCACTCAAAAACTATTTCTGGTTTGCCTGTAGAATATGCAATATGTTTGTTTT... | GTCTCATCTGGAAAGTCACTGGCCTTTCCCCATGGGCAGCTGCAGCAGTGGTGTGTATCTTTCATTTGTTGCTTTAGCTGTGCAGAGGTTGTCTGCTTTACTCATACCAGTAGCTCATAGTGTTCTGACCCTCTTGCAGTCAGGCAGCCAATATGATTGGAGGACCTGCCACTCTCTGGACTTGCCTTTCAAATAGCTCAGCGTTTAAGTCCTTGTGTGGTTTCAAGACCTGAGGATGGTGGAGTTTCAGTGGTAATACAAACAGGGTCACTCAAAAACTATTTCTGGTTTGCCTGTAGAATATGCAATATGTTTGTTTT... |
Task1_train_29389 | This alteration in POLA1 (DNA polymerase alpha 1, catalytic subunit) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; X-linked intellectual disability, van Esch type | TGGTAGTAGTAGTTCATCTCAGACACTAATCTGTCCCTTCTCTGTATTGTTAGCATTTATAGTTGGTACCACGCAACTTGGTTCTTAAAGCCAAGCCATACTGAATTGCTTTTATAGTCTTTATGTGTGTGGACCTTGCTTTCCTGTTTAGATTGTAATTTCCTAAAACTGTACCTGGGGCCCTTTTGCCTATTCTTCACAATATTTAATGTAATTCTGGGCATATATTACAAGTTTCATTAAGGGCTCATTGAGACCCTCCCTGTACTTGAAAAGCTCATATTAAATTTTAAAATAGTTTAGCCTTGAATGAAGGTAGG... | TGGTAGTAGTAGTTCATCTCAGACACTAATCTGTCCCTTCTCTGTATTGTTAGCATTTATAGTTGGTACCACGCAACTTGGTTCTTAAAGCCAAGCCATACTGAATTGCTTTTATAGTCTTTATGTGTGTGGACCTTGCTTTCCTGTTTAGATTGTAATTTCCTAAAACTGTACCTGGGGCCCTTTTGCCTATTCTTCACAATATTTAATGTAATTCTGGGCATATATTACAAGTTTCATTAAGGGCTCATTGAGACCCTCCCTGTACTTGAAAAGCTCATATTAAATTTTAAAATAGTTTAGCCTTGAATGAAGGTAGG... |
Task1_train_29390 | This variant impacts the gene ARX (aristaless related homeobox) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Developmental and epileptic encephalopathy, 1 | GCCGCGGCACCCCCGCACCCCTCCCGCCTGCCCCTCTCCCCAAAGGTCCGGCGCGCTAATTACAGCAAATTGAAACTAATTAAGCTTCTCTTCCCTTTCCCATCACCCTGGGAGCGTCGGCGAGACCCAGCCCCCGCGGGCGGGCTTCCACCAAGCGGTCACCCGGAGGGGCGCGGGCAGGGCCCGGGGGAGGGAGAAGCTGCGGTCCCCGCCGCGAGGAGGGAGGCGTGCGCCGAGGTGGTTAAGGATTGCAAATCTGTTTGGGTCTCCTCACGAAATCTGAGTTGTTTAGATTTTTTTAAATGTATACATTTACCAAT... | GCCGCGGCACCCCCGCACCCCTCCCGCCTGCCCCTCTCCCCAAAGGTCCGGCGCGCTAATTACAGCAAATTGAAACTAATTAAGCTTCTCTTCCCTTTCCCATCACCCTGGGAGCGTCGGCGAGACCCAGCCCCCGCGGGCGGGCTTCCACCAAGCGGTCACCCGGAGGGGCGCGGGCAGGGCCCGGGGGAGGGAGAAGCTGCGGTCCCCGCCGCGAGGAGGGAGGCGTGCGCCGAGGTGGTTAAGGATTGCAAATCTGTTTGGGTCTCCTCACGAAATCTGAGTTGTTTAGATTTTTTTAAATGTATACATTTACCAAT... |
Task1_train_29391 | This gene mutation involves ARX (aristaless related homeobox) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | GACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGCTGTCTTCCCCGCGCCCCTGTAGCCTCTGGCCTCAGGG... | GACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGCTGTCTTCCCCGCGCCCCTGTAGCCTCTGGCCTCAGGG... |
Task1_train_29392 | Gene ARX (aristaless related homeobox) 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, with or without seizures, ARX-related | ACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGCTGTCTTCCCCGCGCCCCTGTAGCCTCTGGCCTCAGGGA... | ACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGCTGTCTTCCCCGCGCCCCTGTAGCCTCTGGCCTCAGGGA... |
Task1_train_29393 | This variant impacts the gene ARX (aristaless related homeobox) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Developmental and epileptic encephalopathy, 1 | ACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGCTGTCTTCCCCGCGCCCCTGTAGCCTCTGGCCTCAGGGA... | ACGGAGAAGGTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGCTGTCTTCCCCGCGCCCCTGTAGCCTCTGGCCTCAGGGA... |
Task1_train_29394 | The gene ARX (aristaless related homeobox) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | GTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGCTGTCTTCCCCGCGCCCCTGTAGCCTCTGGCCTCAGGGAGCCCCCGAC... | GTGGGATTCCAGCTGCCCGGACGCACGCCGCAGGCTCTGAGATCTCCCTCCGGCTCCTTGGCCCGGGACTTTCTGCGCCCTGAAGAAACAGGCCTAGCTCGCCGGCCTCCCGGGCCACCCGCGCCGCCGCGGCCGCCCTTCCGCGCGGGACTCAGCTACCCGCGTCTGGCCAGCGCCTGCGGGTGAGAGTGAAGGGCGACCGCCTGTTGATTTCGGCTCCACGGGCGGGTGTCACCTGCCAGCAGCCCCACATCCTGGCGCGGCGACCCCAGCTGTCTTCCCCGCGCCCCTGTAGCCTCTGGCCTCAGGGAGCCCCCGAC... |
Task1_train_29395 | This variant affects gene ARX (aristaless related homeobox) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy, 1 | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... |
Task1_train_29396 | The gene ARX (aristaless related homeobox) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Inborn genetic diseases | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... |
Task1_train_29397 | A mutation found in ARX (aristaless related homeobox) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; X-linked lissencephaly with abnormal genitalia | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... |
Task1_train_29398 | A sequence alteration has been identified in ARX (aristaless related homeobox) on Chromosome X. Is it disease-inducing or harmless? | Pathogenic; Intellectual disability, X-linked, with or without seizures, ARX-related | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... |
Task1_train_29399 | This mutation is located in gene ARX (aristaless related homeobox) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Partington syndrome | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... | GGTATGTTAAGCTTGTTAAGAGTTCAGTGGGGTAATTTTTCGATTAAACAAAATTCTGCGCACCTCCTGACTCCAATGCCCACTACAAACCCTGCCCATCTCAGGGGAAGTCAATTTAACTGAAACCCTACCCCATCATTGCAGTTATTACTGCGACAATTAAGGCAAATAGGAAACCATTAAGATGCTGTAAAACGGCTTACAACCTGTTTACCGAAAATATGACCGCGCCGAGAATAATTGGCCCTCCGGCTCGCTAATATGAAAGAGCGGGGCCGCCGAAGCCTGGGACCTGGGGTTGCCCTGCCGGTAGGCCCCCA... |
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