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_8500 | This sequence change occurs on Chromosome 4, altering PROM1 (prominin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Stargardt disease 4 | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... |
Task1_train_8501 | A mutation in PROM1 (prominin 1), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinitis pigmentosa 41 | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... |
Task1_train_8502 | A change on Chromosome 4 affects gene PROM1 (prominin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Retinitis pigmentosa | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... | TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGT... |
Task1_train_8503 | Given this context: Chromosome 4, gene PROM1 (prominin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Stargardt disease 4 | GTAAAGGTATGCATCAACCACAGTCCATCATTCATATACTTTTGCCCAGCCTTCACTGTTACTTAATTTGGGGCTGGAAGAGACCTTGGATCTCTTCAATATTGCGAACATAATATATGTGATCTCTTCAACATTGCAGTCACATAATATATGTGAGCTTGGTGGGCCTGGAATGACTCCCAGAGTTACAACCCAGTTAATATGTTATAGACATAAAATACTTTGAAGCTTTTGGAAAACAAAAAGATCTTGTTCAATATTGCAAACGCACTGACGCACGAGGGATCCAGGCTGCAGTGTTGCCTGGCATCATCTGGGGC... | GTAAAGGTATGCATCAACCACAGTCCATCATTCATATACTTTTGCCCAGCCTTCACTGTTACTTAATTTGGGGCTGGAAGAGACCTTGGATCTCTTCAATATTGCGAACATAATATATGTGATCTCTTCAACATTGCAGTCACATAATATATGTGAGCTTGGTGGGCCTGGAATGACTCCCAGAGTTACAACCCAGTTAATATGTTATAGACATAAAATACTTTGAAGCTTTTGGAAAACAAAAAGATCTTGTTCAATATTGCAAACGCACTGACGCACGAGGGATCCAGGCTGCAGTGTTGCCTGGCATCATCTGGGGC... |
Task1_train_8504 | A sequence alteration has been identified in TAPT1 (transmembrane anterior posterior transformation 1) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Complex lethal osteochondrodysplasia | AACAATCATATTAATAATCCATTTATTAATATTCTATAATGATGGCTACTTTGTTACAAAAAACATTAAAAAGTATGCACTTACTAAAACAGCTAGTGGGAGAGGAATAAAGCCCATCCTCCGTGCTACAGAGTCACTGTAATCAGTGTATGCCTGAACAGAGAAAGAAGCAAAAGATTCAGATTTATGGGATTTAAACAGCATTTTAAAAGTACTATTCACTTATTACCAGCAAATGTTCTAAACAGGTGAGGCTATGGAGCAAGAACAGAACCTGGCACTTATAAAATGATGTGGAAATCCAAATGTTCACAAGTCTT... | AACAATCATATTAATAATCCATTTATTAATATTCTATAATGATGGCTACTTTGTTACAAAAAACATTAAAAAGTATGCACTTACTAAAACAGCTAGTGGGAGAGGAATAAAGCCCATCCTCCGTGCTACAGAGTCACTGTAATCAGTGTATGCCTGAACAGAGAAAGAAGCAAAAGATTCAGATTTATGGGATTTAAACAGCATTTTAAAAGTACTATTCACTTATTACCAGCAAATGTTCTAAACAGGTGAGGCTATGGAGCAAGAACAGAACCTGGCACTTATAAAATGATGTGGAAATCCAAATGTTCACAAGTCTT... |
Task1_train_8505 | Here’s a variant in QDPR (quinoid dihydropteridine reductase) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Dihydropteridine reductase deficiency | CTCCCCCATGGAGTCTCCTCATCACAGCAGTAAGGACACAAACTGCAGCTGGGGATCACTGAGCACTTGTTATGGCCAGACACTGTGTTGAGTGCTTGCCGCACACTATCACGTTTAATCCTAACAAGCATGATGGACCTCATGATACAGGTGGGGAAACTGAGGCCTCAGCAGGTCAATAATGTGCTCAGCATGGCCGGTGGTGAGGGAGCGAGCCAGGATTCATGTCGGCACTACCCATTCTGCCACTGTGCTGCCTGTCTCCAAGTCCAGCTACTCTGAGATTCCGTCTGATGTGCAATGCATCCTCAGAGTCCCAG... | CTCCCCCATGGAGTCTCCTCATCACAGCAGTAAGGACACAAACTGCAGCTGGGGATCACTGAGCACTTGTTATGGCCAGACACTGTGTTGAGTGCTTGCCGCACACTATCACGTTTAATCCTAACAAGCATGATGGACCTCATGATACAGGTGGGGAAACTGAGGCCTCAGCAGGTCAATAATGTGCTCAGCATGGCCGGTGGTGAGGGAGCGAGCCAGGATTCATGTCGGCACTACCCATTCTGCCACTGTGCTGCCTGTCTCCAAGTCCAGCTACTCTGAGATTCCGTCTGATGTGCAATGCATCCTCAGAGTCCCAG... |
Task1_train_8506 | Here is a genetic alteration in QDPR (quinoid dihydropteridine reductase) on Chromosome 4. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Dihydropteridine reductase deficiency | ATCACAGCAGTAAGGACACAAACTGCAGCTGGGGATCACTGAGCACTTGTTATGGCCAGACACTGTGTTGAGTGCTTGCCGCACACTATCACGTTTAATCCTAACAAGCATGATGGACCTCATGATACAGGTGGGGAAACTGAGGCCTCAGCAGGTCAATAATGTGCTCAGCATGGCCGGTGGTGAGGGAGCGAGCCAGGATTCATGTCGGCACTACCCATTCTGCCACTGTGCTGCCTGTCTCCAAGTCCAGCTACTCTGAGATTCCGTCTGATGTGCAATGCATCCTCAGAGTCCCAGAGACCTCCCAAGACCACCCG... | ATCACAGCAGTAAGGACACAAACTGCAGCTGGGGATCACTGAGCACTTGTTATGGCCAGACACTGTGTTGAGTGCTTGCCGCACACTATCACGTTTAATCCTAACAAGCATGATGGACCTCATGATACAGGTGGGGAAACTGAGGCCTCAGCAGGTCAATAATGTGCTCAGCATGGCCGGTGGTGAGGGAGCGAGCCAGGATTCATGTCGGCACTACCCATTCTGCCACTGTGCTGCCTGTCTCCAAGTCCAGCTACTCTGAGATTCCGTCTGATGTGCAATGCATCCTCAGAGTCCCAGAGACCTCCCAAGACCACCCG... |
Task1_train_8507 | With a mutation on Chromosome 4 in gene QDPR (quinoid dihydropteridine reductase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | TGAGCACTTGTTATGGCCAGACACTGTGTTGAGTGCTTGCCGCACACTATCACGTTTAATCCTAACAAGCATGATGGACCTCATGATACAGGTGGGGAAACTGAGGCCTCAGCAGGTCAATAATGTGCTCAGCATGGCCGGTGGTGAGGGAGCGAGCCAGGATTCATGTCGGCACTACCCATTCTGCCACTGTGCTGCCTGTCTCCAAGTCCAGCTACTCTGAGATTCCGTCTGATGTGCAATGCATCCTCAGAGTCCCAGAGACCTCCCAAGACCACCCGGATTGACGATCTCAGGGAACACAGACTTGTCCTCTGGAC... | TGAGCACTTGTTATGGCCAGACACTGTGTTGAGTGCTTGCCGCACACTATCACGTTTAATCCTAACAAGCATGATGGACCTCATGATACAGGTGGGGAAACTGAGGCCTCAGCAGGTCAATAATGTGCTCAGCATGGCCGGTGGTGAGGGAGCGAGCCAGGATTCATGTCGGCACTACCCATTCTGCCACTGTGCTGCCTGTCTCCAAGTCCAGCTACTCTGAGATTCCGTCTGATGTGCAATGCATCCTCAGAGTCCCAGAGACCTCCCAAGACCACCCGGATTGACGATCTCAGGGAACACAGACTTGTCCTCTGGAC... |
Task1_train_8508 | Gene QDPR (quinoid dihydropteridine reductase), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Dihydropteridine reductase deficiency | CAGTGTGTGTCTGCAGTCCCAGCTACTCAGGAGGCCGAGGCAAAGGATTGCTTGAGCCCAGGAGTTCCAAGCTACAGTGAGCTAGATCATACCACTACATTCCAGCCTGGGTGAGACCCTGTCTCTAAAAAAATAAACAACTGAGAAGGGTCCCAAGGTCTCTACCACTTACAAGAGAGTCAAAAAGAGCTCCCCCCACCTTTTTTTTTTTTCTTTTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCC... | CAGTGTGTGTCTGCAGTCCCAGCTACTCAGGAGGCCGAGGCAAAGGATTGCTTGAGCCCAGGAGTTCCAAGCTACAGTGAGCTAGATCATACCACTACATTCCAGCCTGGGTGAGACCCTGTCTCTAAAAAAATAAACAACTGAGAAGGGTCCCAAGGTCTCTACCACTTACAAGAGAGTCAAAAAGAGCTCCCCCCACCTTTTTTTTTTTTCTTTTGAGAGGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCTTCAGCC... |
Task1_train_8509 | The following genetic variant occurs in QDPR (quinoid dihydropteridine reductase) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Dihydropteridine reductase deficiency | GAGTGGTTGGGAAAATAAGGCGCTTCACATAGTGATGTGAAGTTATCCTTGGGAATGTGGGCTACAGCACTAAAAACCATTAAACACAGAGTCAGCTGCGCACAGTGGCTACTCAGGAAGTCCCAGCTATTCGGGAGAATGAAGCAGAAGGATCCTTTGAGCCCAGGAGTTCCAGTCCAGCCTGGGCAACACAGTGAGAACCTGACTCAAAAGTCATCCAGGCAGCTCACCAGAAGGGCTTCTCAAGAAAGTTAAGCACTGCTTAAGAGCATCAAAGATTTTTCTTTCTTTTTTTTTTTTTTGTTTTGAGACAGAGTCTC... | GAGTGGTTGGGAAAATAAGGCGCTTCACATAGTGATGTGAAGTTATCCTTGGGAATGTGGGCTACAGCACTAAAAACCATTAAACACAGAGTCAGCTGCGCACAGTGGCTACTCAGGAAGTCCCAGCTATTCGGGAGAATGAAGCAGAAGGATCCTTTGAGCCCAGGAGTTCCAGTCCAGCCTGGGCAACACAGTGAGAACCTGACTCAAAAGTCATCCAGGCAGCTCACCAGAAGGGCTTCTCAAGAAAGTTAAGCACTGCTTAAGAGCATCAAAGATTTTTCTTTCTTTTTTTTTTTTTTGTTTTGAGACAGAGTCTC... |
Task1_train_8510 | A variant on Chromosome 4 in gene CLRN2 (clarin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hearing loss, autosomal recessive 117 | AACACTTAGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGTCCAGGCTGCAGTGAACCGTGATCATGCCACTGCACTCCAGCCTCAGCCAACAGAGCGAAACCTTGTCTCAAAAAATAAAAAATAAAAACAGGCAAAGCTTTATGTCTTTTGACAAAACTTTATTTCTTGCCACTGAGCTTAAAAAAACAACAACACTGTAGTGTCAGAAGGCAGAAAAAGGTGAATAGCCTTTGAATATCTTTTGACTAAACAATTCCATGTTTGAATTTATGCTAAGGAAATACTGGACAAGAGAACAAGGATGTACATAAA... | AACACTTAGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGTCCAGGCTGCAGTGAACCGTGATCATGCCACTGCACTCCAGCCTCAGCCAACAGAGCGAAACCTTGTCTCAAAAAATAAAAAATAAAAACAGGCAAAGCTTTATGTCTTTTGACAAAACTTTATTTCTTGCCACTGAGCTTAAAAAAACAACAACACTGTAGTGTCAGAAGGCAGAAAAAGGTGAATAGCCTTTGAATATCTTTTGACTAAACAATTCCATGTTTGAATTTATGCTAAGGAAATACTGGACAAGAGAACAAGGATGTACATAAA... |
Task1_train_8511 | Here’s a variant in SLIT2 (slit guidance ligand 2) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Congenital anomaly of kidney and urinary tract | CTTACTTCTATGAAGAGCATTCAAACCGCAGCAAAGCCTGGTTTTACTTGAAGTGATTGGAACCAGGGCAAGTTTAGATCTTGACCTGAAATGCCAGAAAAGGAGATCGTGACTCCTGAAGGAAAAGTGCTGCAGAAATCTGAACAAAAATGTCAGGGCCTGAATACTATTTCCATTCTTGCCCCTGTTAGTAGTTTTCACTTTACAATCACAGCGGGGTTCCCTGAGCTGCAAATGAAGAATTAAGTTTTAATACAAACAGAATTGTTGGAAGGTAAATGCCTATGAATGCAAGTCTTTGAAGTGCAGTTGTTTTGATG... | CTTACTTCTATGAAGAGCATTCAAACCGCAGCAAAGCCTGGTTTTACTTGAAGTGATTGGAACCAGGGCAAGTTTAGATCTTGACCTGAAATGCCAGAAAAGGAGATCGTGACTCCTGAAGGAAAAGTGCTGCAGAAATCTGAACAAAAATGTCAGGGCCTGAATACTATTTCCATTCTTGCCCCTGTTAGTAGTTTTCACTTTACAATCACAGCGGGGTTCCCTGAGCTGCAAATGAAGAATTAAGTTTTAATACAAACAGAATTGTTGGAAGGTAAATGCCTATGAATGCAAGTCTTTGAAGTGCAGTTGTTTTGATG... |
Task1_train_8512 | A change on Chromosome 4 affects gene SLIT2 (slit guidance ligand 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Congenital anomaly of kidney and urinary tract | CCAATGTTCAATCACATTATGTCTGCATTTGCCTTATAGAGTCTGTGTTATCAATTGATGTTTTGTACATCAGTCTATCAGACTGGTGCCTATTAATATTCCTTCCACTAAACTACTAGGTCCAGGAAGGCAGAGCCTTTACATTTTCGTGTTTGAGCCAAGAACCTACCTCTAAGTCACTCCTTTACAAACTCCATGGCTGCCACGTGCATGAGCTGCAATATGAAGGAAGCTACTAGCTCAGAGATGCAGGGCTGTGGTGCCCTCAGGCAGAGAATGCAGGCTGAATGAGGAGGTAGCCGTTCTGCTAGTGTTATGGT... | CCAATGTTCAATCACATTATGTCTGCATTTGCCTTATAGAGTCTGTGTTATCAATTGATGTTTTGTACATCAGTCTATCAGACTGGTGCCTATTAATATTCCTTCCACTAAACTACTAGGTCCAGGAAGGCAGAGCCTTTACATTTTCGTGTTTGAGCCAAGAACCTACCTCTAAGTCACTCCTTTACAAACTCCATGGCTGCCACGTGCATGAGCTGCAATATGAAGGAAGCTACTAGCTCAGAGATGCAGGGCTGTGGTGCCCTCAGGCAGAGAATGCAGGCTGAATGAGGAGGTAGCCGTTCTGCTAGTGTTATGGT... |
Task1_train_8513 | This gene mutation involves SOD3 (superoxide dismutase 3) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; SOD3-related disorder | AGACATCTGATGTGCAGTCAACACTGAGAACCCCTGCCAGCTTCATCTCCTCTTCTAAGTGCCAGACCCAAGTTTCCGACTGTCTGCCCACCTGTCTTCCCACCTGGGCACCCGCCAGCGTCTCACCCTCAGGAGACTCCAGCTGAACTAATCCTCTCTCCCTGCTTTTCCAGAACAGGTCCCACCCTCCCTCCACTCAGTCTCTCCTGCTGGGAACCCTGGTCATCTGCACTGTGCCTTCATCTTCCATCCTGCCAGTGCTGCCCGGTGTGTCTCTTAAACCCATGCCTCCTCTGTGTGCACCACCTGCACTTTGGTAA... | AGACATCTGATGTGCAGTCAACACTGAGAACCCCTGCCAGCTTCATCTCCTCTTCTAAGTGCCAGACCCAAGTTTCCGACTGTCTGCCCACCTGTCTTCCCACCTGGGCACCCGCCAGCGTCTCACCCTCAGGAGACTCCAGCTGAACTAATCCTCTCTCCCTGCTTTTCCAGAACAGGTCCCACCCTCCCTCCACTCAGTCTCTCCTGCTGGGAACCCTGGTCATCTGCACTGTGCCTTCATCTTCCATCCTGCCAGTGCTGCCCGGTGTGTCTCTTAAACCCATGCCTCCTCTGTGTGCACCACCTGCACTTTGGTAA... |
Task1_train_8514 | A genetic alteration is present in SEPSECS (Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase) on Chromosome 4. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Pontocerebellar hypoplasia type 2D | TCATTTAAAAGAGTTTACACTTCACAGAAAGGTTAGTGGACAGAGCAATGAGTGATCATATTAACTACCAATTAACTACCAATTAAATCGTTATCAGAATTGATGAAAAGCTTTCTGCAATAATGCAAAAGAAAAAGGTCACTTAATAATCTAATACACCTTTCCCTGTATCTATTGCAACAGAGGTATTTATAAAATGAGATTCAGTTTAAACACAGTTTAAAACAAAATTTAAAGTTGATAACTATAAATCATTCAAAAAAAAAAAACACTACAAATGTTAGAAAAGAAATATGGAAAGCTATAAACAACCTTAATGG... | TCATTTAAAAGAGTTTACACTTCACAGAAAGGTTAGTGGACAGAGCAATGAGTGATCATATTAACTACCAATTAACTACCAATTAAATCGTTATCAGAATTGATGAAAAGCTTTCTGCAATAATGCAAAAGAAAAAGGTCACTTAATAATCTAATACACCTTTCCCTGTATCTATTGCAACAGAGGTATTTATAAAATGAGATTCAGTTTAAACACAGTTTAAAACAAAATTTAAAGTTGATAACTATAAATCATTCAAAAAAAAAAAACACTACAAATGTTAGAAAAGAAATATGGAAAGCTATAAACAACCTTAATGG... |
Task1_train_8515 | This variant lies on Chromosome 4 and affects the gene LOC126807011, RBPJ (MED14-independent group 3 enhancer GRCh37_chr4:26407341-26408540| recombination signal binding protein for immunoglobulin kappa J region). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Adams-Oliver syndrome 3 | TTTTTAATGGGGTTGTTTGTTTTTTTTCTTGTAAATTTAAGTTCCTTATAGATGCTGGATAGTAGACCTTTATCAGATGCACAGTTTGCACGTATTTCCTCCCATTCTGTAGGTTGTCTGTTTACTCCATTGATGGTTTCTTTTGCTATGCAGAAACGTATTACCACTTTTATCATCACCTGTTATGGGGTAATATTTGAAATAGCATAAACTTTTATACTTAGTATTTAAGTATACAAATGTCCAATTTTCAAAGCCTTTCATAGTTTGACTCTATCATTGTCAACCTTATTCACTGCCGTGGCTCACCTTAGAATCTC... | TTTTTAATGGGGTTGTTTGTTTTTTTTCTTGTAAATTTAAGTTCCTTATAGATGCTGGATAGTAGACCTTTATCAGATGCACAGTTTGCACGTATTTCCTCCCATTCTGTAGGTTGTCTGTTTACTCCATTGATGGTTTCTTTTGCTATGCAGAAACGTATTACCACTTTTATCATCACCTGTTATGGGGTAATATTTGAAATAGCATAAACTTTTATACTTAGTATTTAAGTATACAAATGTCCAATTTTCAAAGCCTTTCATAGTTTGACTCTATCATTGTCAACCTTATTCACTGCCGTGGCTCACCTTAGAATCTC... |
Task1_train_8516 | With a mutation on Chromosome 4 in gene RBPJ (recombination signal binding protein for immunoglobulin kappa J region), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Adams-Oliver syndrome 3 | GATCTTACCTTTTAATTTTAACACTCAAAAGCCATCTCAACATTTTTAAGCTTTCCCATTAGAATGTAATTACCTTCATTTAGATATAAATTTCATTTTTGCTTCCCATGACTGTCTGCTTTAGTACATTGATACCCATTTTCATAGACCTCGTCTTATGTTGCAGAAGAATTTCATTGTTTAGGCTTAATTTGACCTTCAATGCTGTCTGTCACTTTTAAGAGTATGGCCGACCTATGGGTATAGCAGCTCACAGATGCCATCTCTGAGTGCGTTAGAGATCTTGGGTGCAAGGAGTGATGTGACTGCAAAGTACTGTT... | GATCTTACCTTTTAATTTTAACACTCAAAAGCCATCTCAACATTTTTAAGCTTTCCCATTAGAATGTAATTACCTTCATTTAGATATAAATTTCATTTTTGCTTCCCATGACTGTCTGCTTTAGTACATTGATACCCATTTTCATAGACCTCGTCTTATGTTGCAGAAGAATTTCATTGTTTAGGCTTAATTTGACCTTCAATGCTGTCTGTCACTTTTAAGAGTATGGCCGACCTATGGGTATAGCAGCTCACAGATGCCATCTCTGAGTGCGTTAGAGATCTTGGGTGCAAGGAGTGATGTGACTGCAAAGTACTGTT... |
Task1_train_8517 | Here is a variant affecting TLR1 (toll like receptor 1) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Rheumatoid arthritis | GATATGTTTAGTGTTCTCTGATTGACTGTAAGTTCTTTAGGCCAAGAAGCTAATAGATATGTATGTGTTAGTTGGGTTCCTTCCCACTCAAAAAAGTAGAGACTGAGATGAGAGCTTTGTGGGCTGGTCATTTGTAGGCTTTTTGGTTTTTGTTGCTTTTTATTTTATTTATTTTTTCTAGACTCCTTGAGTTAAGGAAAGGTCGCTTGTTTGGAGCAGCGATCTCAGGACTCAAGAGTGACCCGAATGAGAAGAGTGACCAAGGAAGAATGGAAAGTCAATGCAAAACCAAGTTACTGAGCTGGTTACCCTGTGGGTAA... | GATATGTTTAGTGTTCTCTGATTGACTGTAAGTTCTTTAGGCCAAGAAGCTAATAGATATGTATGTGTTAGTTGGGTTCCTTCCCACTCAAAAAAGTAGAGACTGAGATGAGAGCTTTGTGGGCTGGTCATTTGTAGGCTTTTTGGTTTTTGTTGCTTTTTATTTTATTTATTTTTTCTAGACTCCTTGAGTTAAGGAAAGGTCGCTTGTTTGGAGCAGCGATCTCAGGACTCAAGAGTGACCCGAATGAGAAGAGTGACCAAGGAAGAATGGAAAGTCAATGCAAAACCAAGTTACTGAGCTGGTTACCCTGTGGGTAA... |
Task1_train_8518 | This variant impacts the gene TLR1 (toll like receptor 1) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Rheumatoid arthritis | AGACAGATGCTATATATAGAAGCACCGTATATCAACTATATTCTTCCTTCTAATCAAAAGAGCAAAGGCTCTTGTGCATGTTAGTTCATACAACCAGAATCTCAGCGAGATCTCCAGTCATGGAAAACTAGACTCAGAATTTTCATTTGGACTGAGGTGGAACACTTTCTTGGTCTGGGCTCCCTCATAAGCAGCCCCTGAGACAAATATTCAGTGGCAAGTAGTTTATCACAGAGGTGATCCCATGGAATACACATGGAGGAATAAGTAAGTGAGAAAAAAATGGGAAGGAAGCCAGTCGAGAATACTTAATCAAGCCA... | AGACAGATGCTATATATAGAAGCACCGTATATCAACTATATTCTTCCTTCTAATCAAAAGAGCAAAGGCTCTTGTGCATGTTAGTTCATACAACCAGAATCTCAGCGAGATCTCCAGTCATGGAAAACTAGACTCAGAATTTTCATTTGGACTGAGGTGGAACACTTTCTTGGTCTGGGCTCCCTCATAAGCAGCCCCTGAGACAAATATTCAGTGGCAAGTAGTTTATCACAGAGGTGATCCCATGGAATACACATGGAGGAATAAGTAAGTGAGAAAAAAATGGGAAGGAAGCCAGTCGAGAATACTTAATCAAGCCA... |
Task1_train_8519 | A variant found in Chromosome 4 affects WDR19 (WD repeat domain 19). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Asphyxiating thoracic dystrophy 5 | GAAGAGTTATTATTCATGATTTACAGTTGAGAATTTTTTGCTGGAGGCAATTTAAACGACTTACTTAAAGCCCTACAGCTAATAAGCTACAAACAAAATTTAAGTCTTGGTTTTTTGGTTGTGAAACTAGCAGTTTTTCCTCTGCACGGTATGTGGAGCATCTATAGAGCTCCACTGAAAAAAAATAATATGAAATCACAGCTAGAGGCAAGTCAGCCATTGAAGGTAATGAAATTCAAGTTTAAGGACTTCTCACTTGCATGAAGGAGTTCCAGGGTGAAATGGTCACAAAATTGCAAAAGTAAGATGCTTTTAAATAT... | GAAGAGTTATTATTCATGATTTACAGTTGAGAATTTTTTGCTGGAGGCAATTTAAACGACTTACTTAAAGCCCTACAGCTAATAAGCTACAAACAAAATTTAAGTCTTGGTTTTTTGGTTGTGAAACTAGCAGTTTTTCCTCTGCACGGTATGTGGAGCATCTATAGAGCTCCACTGAAAAAAAATAATATGAAATCACAGCTAGAGGCAAGTCAGCCATTGAAGGTAATGAAATTCAAGTTTAAGGACTTCTCACTTGCATGAAGGAGTTCCAGGGTGAAATGGTCACAAAATTGCAAAAGTAAGATGCTTTTAAATAT... |
Task1_train_8520 | This variant affects the gene WDR19 (WD repeat domain 19) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Senior-Loken syndrome 8 | TCTGTATTCCTGGAAACAGATCAAAGAAGCTATAATTATATGTGAAGTGAAAGAAGGCACTCAGTAAAAATTGTCTTGGAGTAAATTGCGTGAGCTTTATTGTGTGATCTCTGTGACATCTATTTCTGTTACATAATGGTCTCATTTCTTCTGTATTGTTTTGCTGTATTCATAATAGTGGAATTTGACTGACAGAGGATCTCCAGATAAGGAAAATGCTGTTAAATACACAATCTTTAATTAGCAGATGATTTTGTCAATAATTTGAAAGCTTCCCTCTTCCATACTCCCCAAATCTCTGAATATACTTTAGAAAATGA... | TCTGTATTCCTGGAAACAGATCAAAGAAGCTATAATTATATGTGAAGTGAAAGAAGGCACTCAGTAAAAATTGTCTTGGAGTAAATTGCGTGAGCTTTATTGTGTGATCTCTGTGACATCTATTTCTGTTACATAATGGTCTCATTTCTTCTGTATTGTTTTGCTGTATTCATAATAGTGGAATTTGACTGACAGAGGATCTCCAGATAAGGAAAATGCTGTTAAATACACAATCTTTAATTAGCAGATGATTTTGTCAATAATTTGAAAGCTTCCCTCTTCCATACTCCCCAAATCTCTGAATATACTTTAGAAAATGA... |
Task1_train_8521 | A genetic alteration is present in WDR19 (WD repeat domain 19) on Chromosome 4. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Asphyxiating thoracic dystrophy 5 | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... |
Task1_train_8522 | This variant impacts the gene WDR19 (WD repeat domain 19) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Senior-Loken syndrome 8 | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... |
Task1_train_8523 | A variant has been detected on Chromosome 4 in WDR19 (WD repeat domain 19). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Asphyxiating thoracic dystrophy 5 | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... |
Task1_train_8524 | A mutation in WDR19 (WD repeat domain 19), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Nephronophthisis 13 | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... |
Task1_train_8525 | This variant lies on Chromosome 4 and affects the gene WDR19 (WD repeat domain 19). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spermatogenic failure 72 | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... |
Task1_train_8526 | This mutation is located in gene WDR19 (WD repeat domain 19) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Senior-Loken syndrome 8 | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... |
Task1_train_8527 | This gene mutation involves WDR19 (WD repeat domain 19) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cranioectodermal dysplasia 4 | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... | TTCTTGATGAAGATGGATGACCGAACCTCTGCTGCTGAAAGCATGGTAAGAATTCTAATCAAATCCACGTGCAAATCATTTGGGTAATTTTGTGGAATGTATAATTTACTTTTCTTGGATGACTAAAATAGTGATAAATAAATTAGGTCCATTGACTGTATTTTAAGCCAAGGTAGAGCTAGGTCTTTTAGTCCCTAAAAGTTGTTGTAATTGCTACTGACTACCTGGCATTACAGCAAATGAGGACAGCTTTCTGTTACAATTGGTATTGCTCTTTTCATTCTTGTGATAGCAAAAACATTAGGGGTACCTTGCAGAAC... |
Task1_train_8528 | A variant on Chromosome 4 in gene WDR19 (WD repeat domain 19) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Nephronophthisis 13 | TCTCTATCTCTCTATATTGCCTCTTACAACTACCTGTGAATCTGAAATTATCTTAAAAGTTTAATTAAATGAAAATAATGAGGGAAAAAAGGTAAGAGGAAAACACTGGAAGAGAAGAGAAGGAGAAAAGGAGGTTAGGAGGAAAGAAATGTTACAACTATTAGTTCCCAACATTGTACTACACAACTTTCATTTACATCAACTTACTTATTCTTACTACAACCTTATGAAATAATGTTATGCCCGCATTTTTCAGAGCTTTCAACCTGATCCTTCTGATCCAAATTTAATGTTCTTTCTATACTATAATTCACTTCCTT... | TCTCTATCTCTCTATATTGCCTCTTACAACTACCTGTGAATCTGAAATTATCTTAAAAGTTTAATTAAATGAAAATAATGAGGGAAAAAAGGTAAGAGGAAAACACTGGAAGAGAAGAGAAGGAGAAAAGGAGGTTAGGAGGAAAGAAATGTTACAACTATTAGTTCCCAACATTGTACTACACAACTTTCATTTACATCAACTTACTTATTCTTACTACAACCTTATGAAATAATGTTATGCCCGCATTTTTCAGAGCTTTCAACCTGATCCTTCTGATCCAAATTTAATGTTCTTTCTATACTATAATTCACTTCCTT... |
Task1_train_8529 | A mutation in WDR19 (WD repeat domain 19), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Senior-Loken syndrome 8 | TATTGACATTGGTACAGTCAACATACAGAACAATTCTGCTGCCACCCCATTCTTAACCCCTGGTAACAACTTGTTCTCCATTTCCATAATTTTGCCATTTCAATAATGTGTAAATGGAATCAAACAGTATGCAATATTTTGAGATTGGCTTTTTTTTCACTCAGCAGACTTCTCTGGAGATTCATCTAAGTTGTGTGTATCCATAGTTTGTTCCATTTTGTTATTGAGTCGTATTCCATGGTATGGATGTACTTAGTTTGTTTAACATTTGCCCATTGAAGGGCATACGGACTGACAGCCAAGTGGAGTTTCTTTTTGAG... | TATTGACATTGGTACAGTCAACATACAGAACAATTCTGCTGCCACCCCATTCTTAACCCCTGGTAACAACTTGTTCTCCATTTCCATAATTTTGCCATTTCAATAATGTGTAAATGGAATCAAACAGTATGCAATATTTTGAGATTGGCTTTTTTTTCACTCAGCAGACTTCTCTGGAGATTCATCTAAGTTGTGTGTATCCATAGTTTGTTCCATTTTGTTATTGAGTCGTATTCCATGGTATGGATGTACTTAGTTTGTTTAACATTTGCCCATTGAAGGGCATACGGACTGACAGCCAAGTGGAGTTTCTTTTTGAG... |
Task1_train_8530 | Consider this mutation in WDR19 (WD repeat domain 19) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Nephronophthisis 13 | GCTCATCTATACAAAGTGAGAATCAGTATAGCATAGTGGTTAGAAGCAGAGACTCAGGAGCCAGACTGCCTGGGTTCAAATACTGGCTCGTCAGCCTACTAGCTGTGTGACTTTGGGCAGATTTCTCTGTACTTTAGTTTCTTCATCTGTAAAACGGGAATAATAATAGTATCTGTCTTCTAGAGTATAAGGTTAGAATTAAATGAAGTAATTAGTACAATATCTTGTAAGTAGCACTGTCCAATACAAATATAATGTGAACCAAATATGTAATTAAAAATTTTCTATTAGCTACATTTTTAAAAGATAAAAAACGAACA... | GCTCATCTATACAAAGTGAGAATCAGTATAGCATAGTGGTTAGAAGCAGAGACTCAGGAGCCAGACTGCCTGGGTTCAAATACTGGCTCGTCAGCCTACTAGCTGTGTGACTTTGGGCAGATTTCTCTGTACTTTAGTTTCTTCATCTGTAAAACGGGAATAATAATAGTATCTGTCTTCTAGAGTATAAGGTTAGAATTAAATGAAGTAATTAGTACAATATCTTGTAAGTAGCACTGTCCAATACAAATATAATGTGAACCAAATATGTAATTAAAAATTTTCTATTAGCTACATTTTTAAAAGATAAAAAACGAACA... |
Task1_train_8531 | This alteration in WDR19 (WD repeat domain 19) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Senior-Loken syndrome 8 | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... |
Task1_train_8532 | This mutation is located in gene WDR19 (WD repeat domain 19) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Renal dysplasia and retinal aplasia | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... |
Task1_train_8533 | Given this context: Chromosome 4, gene WDR19 (WD repeat domain 19) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Asphyxiating thoracic dystrophy 5 | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... |
Task1_train_8534 | The gene WDR19 (WD repeat domain 19) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Connective tissue disorder | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... |
Task1_train_8535 | This is a variant in WDR19 (WD repeat domain 19), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; WDR19-related disorder | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... |
Task1_train_8536 | This mutation is located in gene WDR19 (WD repeat domain 19) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Asphyxiating thoracic dystrophy 5 | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... |
Task1_train_8537 | The gene WDR19 (WD repeat domain 19) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Senior-Loken syndrome 8 | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... | CATGCACATGCCTTAACACACATATACACCAGCTCCTTTCCTCCTCCCGTGTTCCCTCATCTTTACCCAGGCCCTCACCTGGAATAATGTGTAATGTAACTAACCACTTCCTAACTGCTCTGTCTGCCAATAGCCTTGTAACGATCTCATCTGTTCTCCACACACTTTTGAAGATGTGATTTGATCCTCTTATTTCCCTGCTCAGGATCCTTCAGTGACTTTCTATTGCCTTTACAAACAAATCCATTCCTGGGGGACCTCTATGACCTACTAGGCACTTCATGATTTAACACCAGCTCAACTGTCTCCACTCAAGTCCC... |
Task1_train_8538 | The gene WDR19 (WD repeat domain 19) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Spermatogenic failure 72 | GCAGTGGCTCACACCTATAATCCCAACACTTTGGAAGGCTGAGGTGGACAAATCACTTGAGGTCAGTAGTTCAAGACCAGCCTGGCCAATATGATGAAACCCTATCTCTACTAAAAATACAAAAATTGGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCATCTCAAAAAAAAAAAAAAAAAGATGGGCATATCAATTAGGATTGTATTTA... | GCAGTGGCTCACACCTATAATCCCAACACTTTGGAAGGCTGAGGTGGACAAATCACTTGAGGTCAGTAGTTCAAGACCAGCCTGGCCAATATGATGAAACCCTATCTCTACTAAAAATACAAAAATTGGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCTGGGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCATCTCAAAAAAAAAAAAAAAAAGATGGGCATATCAATTAGGATTGTATTTA... |
Task1_train_8539 | This is a variant in UCHL1 (ubiquitin C-terminal hydrolase L1), located on Chromosome 4. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGCAGATGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGGCGTGAACCGGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAACAAAACAAACAAAACAAACAAACAAAAAAACGGCATGAGGGAAATTTCCATGTTTATTGTG... | ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGCAGATGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGGCGTGAACCGGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAACAAAACAAACAAAACAAACAAACAAAAAAACGGCATGAGGGAAATTTCCATGTTTATTGTG... |
Task1_train_8540 | A variant on Chromosome 4 in gene UCHL1 (ubiquitin C-terminal hydrolase L1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | AACACTGCACTAATACCATAAAAATGTGTCCCACATAGGATACAAGTGTCACATGAGTAGAATTTATAAGGTGTGGGGAAGGTAAAATTTTTGTATAGAGATGGGGCGGGGAGGGACTCACTATGTTGCCCAGGCTGGTCTTTAACTCTTGGGCTCAAGTGATCTTCCTGCCTCAGCTTCCCAGAGTGCTGGGATTATAGGCGTGAGCCACAGTACCTGGCTAAAACTTTTTTTTTTTTTTTTTTTTTAACTTTTCTAATTAGAACCTTATTTAAAATTAAAAGAGTTTCTAAATTAAACCAGCATTTTAGTTAAAATTC... | AACACTGCACTAATACCATAAAAATGTGTCCCACATAGGATACAAGTGTCACATGAGTAGAATTTATAAGGTGTGGGGAAGGTAAAATTTTTGTATAGAGATGGGGCGGGGAGGGACTCACTATGTTGCCCAGGCTGGTCTTTAACTCTTGGGCTCAAGTGATCTTCCTGCCTCAGCTTCCCAGAGTGCTGGGATTATAGGCGTGAGCCACAGTACCTGGCTAAAACTTTTTTTTTTTTTTTTTTTTTAACTTTTCTAATTAGAACCTTATTTAAAATTAAAAGAGTTTCTAAATTAAACCAGCATTTTAGTTAAAATTC... |
Task1_train_8541 | Given a variant located on Chromosome 4 and affecting PHOX2B (paired like homeobox 2B), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | ACAGGAAAAAAAAAGAAATCAGACAGACATGCACCTGATAACAAAAATATATACCATTGTCTGAACCGTGGCCTCTCTAAACACAAAAGATTGAACCCGTGAGAACCTTATTACACCATAAAGACACGCCATAGAGACTACAAGAAGAGAAAAACATTATACGGTCACGTAGAGGAGACAGTCTGCACTGATATTAACACGATACAATTGAGTCACAGAACACAGTTGTAGAAAGACACCGAAAAAGTTAAAGCCTCAACATTCAACTAATATCTAGAGTTTGTGCCTTTTAAAATAAAAACAACAACAAAGAATCAAAA... | ACAGGAAAAAAAAAGAAATCAGACAGACATGCACCTGATAACAAAAATATATACCATTGTCTGAACCGTGGCCTCTCTAAACACAAAAGATTGAACCCGTGAGAACCTTATTACACCATAAAGACACGCCATAGAGACTACAAGAAGAGAAAAACATTATACGGTCACGTAGAGGAGACAGTCTGCACTGATATTAACACGATACAATTGAGTCACAGAACACAGTTGTAGAAAGACACCGAAAAAGTTAAAGCCTCAACATTCAACTAATATCTAGAGTTTGTGCCTTTTAAAATAAAAACAACAACAAAGAATCAAAA... |
Task1_train_8542 | This sequence change occurs on Chromosome 4, altering PHOX2B (paired like homeobox 2B). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary cancer-predisposing syndrome | TTTGTTTTTTAATGGTTTCTGCCTTCCAACTTTTTTGTTTTTATTTTTACTTTTTTGTCTTTTTTTTCTAAACAAGTCACTAAGTTGGTTGAGGCCCCCCATCTCTTCCTGTCACCTGCTTGGGCCACAGACACACATTCCCCGAGACAGACACAAACTGACACGCAGACACAGCCCCCTGAGAGTGCCCCGCGTCCAGGCCGCGCTGCTCACAACCCCCGATCAGCAGGCGGAGCCCTGGCCCCGCTGCGAGGCCCCAGGCAGGTGCGAAGCCAGGGAAGTTTGTTTGTTTTGTTTGGGGGTTGAGGAAGGGGGTAGGA... | TTTGTTTTTTAATGGTTTCTGCCTTCCAACTTTTTTGTTTTTATTTTTACTTTTTTGTCTTTTTTTTCTAAACAAGTCACTAAGTTGGTTGAGGCCCCCCATCTCTTCCTGTCACCTGCTTGGGCCACAGACACACATTCCCCGAGACAGACACAAACTGACACGCAGACACAGCCCCCTGAGAGTGCCCCGCGTCCAGGCCGCGCTGCTCACAACCCCCGATCAGCAGGCGGAGCCCTGGCCCCGCTGCGAGGCCCCAGGCAGGTGCGAAGCCAGGGAAGTTTGTTTGTTTTGTTTGGGGGTTGAGGAAGGGGGTAGGA... |
Task1_train_8543 | Gene PHOX2B (paired like homeobox 2B) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Haddad syndrome | TTTTAATGGTTTCTGCCTTCCAACTTTTTTGTTTTTATTTTTACTTTTTTGTCTTTTTTTTCTAAACAAGTCACTAAGTTGGTTGAGGCCCCCCATCTCTTCCTGTCACCTGCTTGGGCCACAGACACACATTCCCCGAGACAGACACAAACTGACACGCAGACACAGCCCCCTGAGAGTGCCCCGCGTCCAGGCCGCGCTGCTCACAACCCCCGATCAGCAGGCGGAGCCCTGGCCCCGCTGCGAGGCCCCAGGCAGGTGCGAAGCCAGGGAAGTTTGTTTGTTTTGTTTGGGGGTTGAGGAAGGGGGTAGGAGTGGGG... | TTTTAATGGTTTCTGCCTTCCAACTTTTTTGTTTTTATTTTTACTTTTTTGTCTTTTTTTTCTAAACAAGTCACTAAGTTGGTTGAGGCCCCCCATCTCTTCCTGTCACCTGCTTGGGCCACAGACACACATTCCCCGAGACAGACACAAACTGACACGCAGACACAGCCCCCTGAGAGTGCCCCGCGTCCAGGCCGCGCTGCTCACAACCCCCGATCAGCAGGCGGAGCCCTGGCCCCGCTGCGAGGCCCCAGGCAGGTGCGAAGCCAGGGAAGTTTGTTTGTTTTGTTTGGGGGTTGAGGAAGGGGGTAGGAGTGGGG... |
Task1_train_8544 | The variant affects gene PHOX2B (paired like homeobox 2B), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hereditary cancer-predisposing syndrome | TTTTAATGGTTTCTGCCTTCCAACTTTTTTGTTTTTATTTTTACTTTTTTGTCTTTTTTTTCTAAACAAGTCACTAAGTTGGTTGAGGCCCCCCATCTCTTCCTGTCACCTGCTTGGGCCACAGACACACATTCCCCGAGACAGACACAAACTGACACGCAGACACAGCCCCCTGAGAGTGCCCCGCGTCCAGGCCGCGCTGCTCACAACCCCCGATCAGCAGGCGGAGCCCTGGCCCCGCTGCGAGGCCCCAGGCAGGTGCGAAGCCAGGGAAGTTTGTTTGTTTTGTTTGGGGGTTGAGGAAGGGGGTAGGAGTGGGG... | TTTTAATGGTTTCTGCCTTCCAACTTTTTTGTTTTTATTTTTACTTTTTTGTCTTTTTTTTCTAAACAAGTCACTAAGTTGGTTGAGGCCCCCCATCTCTTCCTGTCACCTGCTTGGGCCACAGACACACATTCCCCGAGACAGACACAAACTGACACGCAGACACAGCCCCCTGAGAGTGCCCCGCGTCCAGGCCGCGCTGCTCACAACCCCCGATCAGCAGGCGGAGCCCTGGCCCCGCTGCGAGGCCCCAGGCAGGTGCGAAGCCAGGGAAGTTTGTTTGTTTTGTTTGGGGGTTGAGGAAGGGGGTAGGAGTGGGG... |
Task1_train_8545 | Gene PHOX2B (paired like homeobox 2B), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hirschsprung disease-ganglioneuroblastoma syndrome | TTTAATGGTTTCTGCCTTCCAACTTTTTTGTTTTTATTTTTACTTTTTTGTCTTTTTTTTCTAAACAAGTCACTAAGTTGGTTGAGGCCCCCCATCTCTTCCTGTCACCTGCTTGGGCCACAGACACACATTCCCCGAGACAGACACAAACTGACACGCAGACACAGCCCCCTGAGAGTGCCCCGCGTCCAGGCCGCGCTGCTCACAACCCCCGATCAGCAGGCGGAGCCCTGGCCCCGCTGCGAGGCCCCAGGCAGGTGCGAAGCCAGGGAAGTTTGTTTGTTTTGTTTGGGGGTTGAGGAAGGGGGTAGGAGTGGGGT... | TTTAATGGTTTCTGCCTTCCAACTTTTTTGTTTTTATTTTTACTTTTTTGTCTTTTTTTTCTAAACAAGTCACTAAGTTGGTTGAGGCCCCCCATCTCTTCCTGTCACCTGCTTGGGCCACAGACACACATTCCCCGAGACAGACACAAACTGACACGCAGACACAGCCCCCTGAGAGTGCCCCGCGTCCAGGCCGCGCTGCTCACAACCCCCGATCAGCAGGCGGAGCCCTGGCCCCGCTGCGAGGCCCCAGGCAGGTGCGAAGCCAGGGAAGTTTGTTTGTTTTGTTTGGGGGTTGAGGAAGGGGGTAGGAGTGGGGT... |
Task1_train_8546 | A genetic alteration is present in GRXCR1 (glutaredoxin and cysteine rich domain containing 1) on Chromosome 4. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 25 | TGGTGGTTTGCTGCACCTATCCACCCATCACCTAGGTATTAAGCCTCGCATGCATTTTCTATTTTTCCTAATGCTCTCACTCTCCCCACCTCACCCTCTGACAGGCCCCAGTGTGTGTTGTTCTCTTCCCTGTGTCCACATCCTCTCTTTGTTCACTTCCCACTTATAAGTGAGAAGATGTGGTGTTTGGTTTTCTGTTCTCATGTTAGTTTGCTGAGGATAACGGCTTTCAGCTCCATTCATGTCCCTGCAAAGAACATGATCTCATTCATTTTCATGACTGCATAGTATTCCATGGTGCATATGTACCACATTTTCTT... | TGGTGGTTTGCTGCACCTATCCACCCATCACCTAGGTATTAAGCCTCGCATGCATTTTCTATTTTTCCTAATGCTCTCACTCTCCCCACCTCACCCTCTGACAGGCCCCAGTGTGTGTTGTTCTCTTCCCTGTGTCCACATCCTCTCTTTGTTCACTTCCCACTTATAAGTGAGAAGATGTGGTGTTTGGTTTTCTGTTCTCATGTTAGTTTGCTGAGGATAACGGCTTTCAGCTCCATTCATGTCCCTGCAAAGAACATGATCTCATTCATTTTCATGACTGCATAGTATTCCATGGTGCATATGTACCACATTTTCTT... |
Task1_train_8547 | Consider this mutation in GUF1 (GTP binding elongation factor GUF1) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; Developmental and epileptic encephalopathy, 40 | TGATTGGGACAACTTGTAAGCCTAATTGAAATTTTCTTTAGACTTCAGTTTTATAAGTGAAACATTTAAATGTCTGTTTTGACTAACATTACAAGCTTTGACCACATTGTTAAAAGTAATAGCTGAAACTAAGTGCTTGTGTGTGCTAAGCTAGGCTCTGTTTAAACACTTATTATGTACTAGGCATTGCTCTAATTGGTTTACATGTATTAACTCATTTAATCCTCACAAAAGCCCTGTGAAGGGAGATGCAAGCTGAAGAGCCAAATAGGAAATCCAAAGGTCTCATTTATTAATGGCATTTTATGAGTGTCATAGCA... | TGATTGGGACAACTTGTAAGCCTAATTGAAATTTTCTTTAGACTTCAGTTTTATAAGTGAAACATTTAAATGTCTGTTTTGACTAACATTACAAGCTTTGACCACATTGTTAAAAGTAATAGCTGAAACTAAGTGCTTGTGTGTGCTAAGCTAGGCTCTGTTTAAACACTTATTATGTACTAGGCATTGCTCTAATTGGTTTACATGTATTAACTCATTTAATCCTCACAAAAGCCCTGTGAAGGGAGATGCAAGCTGAAGAGCCAAATAGGAAATCCAAAGGTCTCATTTATTAATGGCATTTTATGAGTGTCATAGCA... |
Task1_train_8548 | The gene GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Alcohol dependence | TTAGTCTGAAGGTAGGTTTATGAAACATCTCTCAAAACTCATCTGAATCATGAAATTGGATAGAATACCCACTGATAAATTCATTATAAGTTTTTTTTTTACAAAACTTTCCATGAAGGCAAAGAAGTCCTCCCACTGGTATTATATTGTCGGATTTAAGATCACAAACTCATTCATTCTTTTATACAATAAATATTTATGAAATGCCTGCTAAGGACCAGGCACTGTGCTGGACACTCTAGCTGTGGAAAAGGAAATGAGAACAAGCAATGTCTGATATATTGTTTTCCTGAAGTAAACCACAAGAACTAAAATAACAT... | TTAGTCTGAAGGTAGGTTTATGAAACATCTCTCAAAACTCATCTGAATCATGAAATTGGATAGAATACCCACTGATAAATTCATTATAAGTTTTTTTTTTACAAAACTTTCCATGAAGGCAAAGAAGTCCTCCCACTGGTATTATATTGTCGGATTTAAGATCACAAACTCATTCATTCTTTTATACAATAAATATTTATGAAATGCCTGCTAAGGACCAGGCACTGTGCTGGACACTCTAGCTGTGGAAAAGGAAATGAGAACAAGCAATGTCTGATATATTGTTTTCCTGAAGTAAACCACAAGAACTAAAATAACAT... |
Task1_train_8549 | A variant has been detected on Chromosome 4 in GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental and epileptic encephalopathy, 78 | TTAGTCTGAAGGTAGGTTTATGAAACATCTCTCAAAACTCATCTGAATCATGAAATTGGATAGAATACCCACTGATAAATTCATTATAAGTTTTTTTTTTACAAAACTTTCCATGAAGGCAAAGAAGTCCTCCCACTGGTATTATATTGTCGGATTTAAGATCACAAACTCATTCATTCTTTTATACAATAAATATTTATGAAATGCCTGCTAAGGACCAGGCACTGTGCTGGACACTCTAGCTGTGGAAAAGGAAATGAGAACAAGCAATGTCTGATATATTGTTTTCCTGAAGTAAACCACAAGAACTAAAATAACAT... | TTAGTCTGAAGGTAGGTTTATGAAACATCTCTCAAAACTCATCTGAATCATGAAATTGGATAGAATACCCACTGATAAATTCATTATAAGTTTTTTTTTTACAAAACTTTCCATGAAGGCAAAGAAGTCCTCCCACTGGTATTATATTGTCGGATTTAAGATCACAAACTCATTCATTCTTTTATACAATAAATATTTATGAAATGCCTGCTAAGGACCAGGCACTGTGCTGGACACTCTAGCTGTGGAAAAGGAAATGAGAACAAGCAATGTCTGATATATTGTTTTCCTGAAGTAAACCACAAGAACTAAAATAACAT... |
Task1_train_8550 | This sequence change occurs on Chromosome 4, altering GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Developmental and epileptic encephalopathy, 78 | TGAAACATCTCTCAAAACTCATCTGAATCATGAAATTGGATAGAATACCCACTGATAAATTCATTATAAGTTTTTTTTTTACAAAACTTTCCATGAAGGCAAAGAAGTCCTCCCACTGGTATTATATTGTCGGATTTAAGATCACAAACTCATTCATTCTTTTATACAATAAATATTTATGAAATGCCTGCTAAGGACCAGGCACTGTGCTGGACACTCTAGCTGTGGAAAAGGAAATGAGAACAAGCAATGTCTGATATATTGTTTTCCTGAAGTAAACCACAAGAACTAAAATAACATAAACAACGTTAATTCTTTTC... | TGAAACATCTCTCAAAACTCATCTGAATCATGAAATTGGATAGAATACCCACTGATAAATTCATTATAAGTTTTTTTTTTACAAAACTTTCCATGAAGGCAAAGAAGTCCTCCCACTGGTATTATATTGTCGGATTTAAGATCACAAACTCATTCATTCTTTTATACAATAAATATTTATGAAATGCCTGCTAAGGACCAGGCACTGTGCTGGACACTCTAGCTGTGGAAAAGGAAATGAGAACAAGCAATGTCTGATATATTGTTTTCCTGAAGTAAACCACAAGAACTAAAATAACATAAACAACGTTAATTCTTTTC... |
Task1_train_8551 | This gene mutation involves GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | AAAGAAGTCCTCCCACTGGTATTATATTGTCGGATTTAAGATCACAAACTCATTCATTCTTTTATACAATAAATATTTATGAAATGCCTGCTAAGGACCAGGCACTGTGCTGGACACTCTAGCTGTGGAAAAGGAAATGAGAACAAGCAATGTCTGATATATTGTTTTCCTGAAGTAAACCACAAGAACTAAAATAACATAAACAACGTTAATTCTTTTCCTGAAAATTAGGTTGGAACCTCAGTGATTTTGACATAGATTTATCCTGGCTATGTGTAATTTGGCATATGGATAGACTTAAATCCACTATACATGAGGAG... | AAAGAAGTCCTCCCACTGGTATTATATTGTCGGATTTAAGATCACAAACTCATTCATTCTTTTATACAATAAATATTTATGAAATGCCTGCTAAGGACCAGGCACTGTGCTGGACACTCTAGCTGTGGAAAAGGAAATGAGAACAAGCAATGTCTGATATATTGTTTTCCTGAAGTAAACCACAAGAACTAAAATAACATAAACAACGTTAATTCTTTTCCTGAAAATTAGGTTGGAACCTCAGTGATTTTGACATAGATTTATCCTGGCTATGTGTAATTTGGCATATGGATAGACTTAAATCCACTATACATGAGGAG... |
Task1_train_8552 | Given this variant in gene GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 78 | AAGTCCTCCCACTGGTATTATATTGTCGGATTTAAGATCACAAACTCATTCATTCTTTTATACAATAAATATTTATGAAATGCCTGCTAAGGACCAGGCACTGTGCTGGACACTCTAGCTGTGGAAAAGGAAATGAGAACAAGCAATGTCTGATATATTGTTTTCCTGAAGTAAACCACAAGAACTAAAATAACATAAACAACGTTAATTCTTTTCCTGAAAATTAGGTTGGAACCTCAGTGATTTTGACATAGATTTATCCTGGCTATGTGTAATTTGGCATATGGATAGACTTAAATCCACTATACATGAGGAGTAAG... | AAGTCCTCCCACTGGTATTATATTGTCGGATTTAAGATCACAAACTCATTCATTCTTTTATACAATAAATATTTATGAAATGCCTGCTAAGGACCAGGCACTGTGCTGGACACTCTAGCTGTGGAAAAGGAAATGAGAACAAGCAATGTCTGATATATTGTTTTCCTGAAGTAAACCACAAGAACTAAAATAACATAAACAACGTTAATTCTTTTCCTGAAAATTAGGTTGGAACCTCAGTGATTTTGACATAGATTTATCCTGGCTATGTGTAATTTGGCATATGGATAGACTTAAATCCACTATACATGAGGAGTAAG... |
Task1_train_8553 | Given this variant in gene GABRA2 (gamma-aminobutyric acid type A receptor subunit alpha2) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 78 | CTAGGCCTCAAACTATTTTCTATCTATGTCTCCACTGCCACTGAAACAGCTCCCTTTCAATGAACATGCCATTGTCTTTCATCCCTTAATGTCACTGCACAATCTATTCTTTTGAGCTAGGATTCTTGCCCCATCTCATCTGCCTGGGAAAGTCCTACTCATCTTCCAAGTCTCAGCTCAAATGGTAACTCAGCCACTTACTCAGCTCTAGGAAGGATCCATGCTGTTGTTTTCTATAACTTGTCTACGCCTCTTTTACAAGACCTTTACCTTATTACCCTTCCTGGTTATATGGTGCCATCCCCTATACCAAGTAATTG... | CTAGGCCTCAAACTATTTTCTATCTATGTCTCCACTGCCACTGAAACAGCTCCCTTTCAATGAACATGCCATTGTCTTTCATCCCTTAATGTCACTGCACAATCTATTCTTTTGAGCTAGGATTCTTGCCCCATCTCATCTGCCTGGGAAAGTCCTACTCATCTTCCAAGTCTCAGCTCAAATGGTAACTCAGCCACTTACTCAGCTCTAGGAAGGATCCATGCTGTTGTTTTCTATAACTTGTCTACGCCTCTTTTACAAGACCTTTACCTTATTACCCTTCCTGGTTATATGGTGCCATCCCCTATACCAAGTAATTG... |
Task1_train_8554 | The gene GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Developmental and epileptic encephalopathy, 45 | CCCATGATGCCATTGTCCACTGGATCCAGACAGGGCTGAGAACTCACATTCCCCAGATACTACTTCCTGCTGGGCTTAGGAGAGGTAACTCATGGTTGAATTGGAATTGGAAAGGAAGGAATCTGGGTTGAATATAAGCTGTCATATTGCCACTAACCATTTCAACTAAGAAAGGAGTTTTGTATTCTAAAATCCATGAATGGGATCCATGATCTCCTGAAATTGCCATCAAATTCCATCTATCTATCTATCTATCTAGCTATCTATCTATCTATCATCTATCTATCTATCTATCTATCTATCATCTATCTATCTATCTG... | CCCATGATGCCATTGTCCACTGGATCCAGACAGGGCTGAGAACTCACATTCCCCAGATACTACTTCCTGCTGGGCTTAGGAGAGGTAACTCATGGTTGAATTGGAATTGGAAAGGAAGGAATCTGGGTTGAATATAAGCTGTCATATTGCCACTAACCATTTCAACTAAGAAAGGAGTTTTGTATTCTAAAATCCATGAATGGGATCCATGATCTCCTGAAATTGCCATCAAATTCCATCTATCTATCTATCTATCTAGCTATCTATCTATCTATCATCTATCTATCTATCTATCTATCTATCATCTATCTATCTATCTG... |
Task1_train_8555 | The gene GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | ATGATGCCATTGTCCACTGGATCCAGACAGGGCTGAGAACTCACATTCCCCAGATACTACTTCCTGCTGGGCTTAGGAGAGGTAACTCATGGTTGAATTGGAATTGGAAAGGAAGGAATCTGGGTTGAATATAAGCTGTCATATTGCCACTAACCATTTCAACTAAGAAAGGAGTTTTGTATTCTAAAATCCATGAATGGGATCCATGATCTCCTGAAATTGCCATCAAATTCCATCTATCTATCTATCTATCTAGCTATCTATCTATCTATCATCTATCTATCTATCTATCTATCTATCATCTATCTATCTATCTGTGT... | ATGATGCCATTGTCCACTGGATCCAGACAGGGCTGAGAACTCACATTCCCCAGATACTACTTCCTGCTGGGCTTAGGAGAGGTAACTCATGGTTGAATTGGAATTGGAAAGGAAGGAATCTGGGTTGAATATAAGCTGTCATATTGCCACTAACCATTTCAACTAAGAAAGGAGTTTTGTATTCTAAAATCCATGAATGGGATCCATGATCTCCTGAAATTGCCATCAAATTCCATCTATCTATCTATCTATCTAGCTATCTATCTATCTATCATCTATCTATCTATCTATCTATCTATCATCTATCTATCTATCTGTGT... |
Task1_train_8556 | A mutation found in CORIN (corin, serine peptidase) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Preeclampsia/eclampsia 5 | CAAGTCCAGGGGGCGCTGTTCTTATCATAGTCCTTGTAGTGTTCAGCCATAGGTAGCACCTCTGATGATACACACTTCAAAAGGTTATTTTGAGTACGCTACAGCATAACAATCCTCAAGTATTTAGCCCATTGTAAGGACTCGATGTTAGATTTTTCAGTCTCATAGCTAAAAAATTCAATGTTAAAATTAATAAACACACCTAGCAAAAGCAACTATGTATTGCTTTATGAACTTATTAGCATATTATTCAAAAATTTCTTATAAACAAATATCAAAATATAAAATTCGTAGTGATAGACACTGAAAATGAAAGATGT... | CAAGTCCAGGGGGCGCTGTTCTTATCATAGTCCTTGTAGTGTTCAGCCATAGGTAGCACCTCTGATGATACACACTTCAAAAGGTTATTTTGAGTACGCTACAGCATAACAATCCTCAAGTATTTAGCCCATTGTAAGGACTCGATGTTAGATTTTTCAGTCTCATAGCTAAAAAATTCAATGTTAAAATTAATAAACACACCTAGCAAAAGCAACTATGTATTGCTTTATGAACTTATTAGCATATTATTCAAAAATTTCTTATAAACAAATATCAAAATATAAAATTCGTAGTGATAGACACTGAAAATGAAAGATGT... |
Task1_train_8557 | Given a variant located on Chromosome 4 and affecting CORIN (corin, serine peptidase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Preeclampsia/eclampsia 5 | ATAGAACTTCCATATAACCCAGCAATCCCACTACTGGGCATATACCCAAAGGAAAGGAAATCAGTATATCAAACAGACATCTGCACCCCCACATTCACTGCAGCACTACTCACAATAACCATGATATGGAATCAATTTATGCCATCAAAAAATGAGTGGAGAAGAAAATATGGTACATCTACACAATGGAATACTATTCAGCCACGCCAAAAGAATAAAATCCTGTTATTTGTAGCAACATGGATGAGCCTGGAGGACATTCTGTTTAGTGAAATAAGCCAGGCATAGAAACAGAAATACCACATGCCCTCACTCATATG... | ATAGAACTTCCATATAACCCAGCAATCCCACTACTGGGCATATACCCAAAGGAAAGGAAATCAGTATATCAAACAGACATCTGCACCCCCACATTCACTGCAGCACTACTCACAATAACCATGATATGGAATCAATTTATGCCATCAAAAAATGAGTGGAGAAGAAAATATGGTACATCTACACAATGGAATACTATTCAGCCACGCCAAAAGAATAAAATCCTGTTATTTGTAGCAACATGGATGAGCCTGGAGGACATTCTGTTTAGTGAAATAAGCCAGGCATAGAAACAGAAATACCACATGCCCTCACTCATATG... |
Task1_train_8558 | Consider this mutation in CNGA1, LOC101927157 (cyclic nucleotide gated channel subunit alpha 1| uncharacterized LOC101927157) on Chromosome 4. Is this a benign change or a disease-causing variant? | Pathogenic; CNGA1-related retinopathy | AGGTTTTTATAACAGGCAAGAAATGGCACAGAGAAAAAGAACAAAACGCAGATGAAGAAGTAATAACAAGAACAAGAAGAAAAAGAAAGGAAAAGGAGAACTTGTGTCAGAGAGAAATACGTTATGGTATTATATACAACGCACCCACTCCAGGACTAGACATTTCTGTAGTGAAGATATTGAAGGAACAGCCAAGATGAATGGAAACACAGGACTTCAAAGACATAATGTATAGTTCAATGGATATTCTACTGGTACAATAGAATAAAATATGCCATCAGCATACCCCAAGCAAGGTCTGTTTAAGTATCTGAAATGTC... | AGGTTTTTATAACAGGCAAGAAATGGCACAGAGAAAAAGAACAAAACGCAGATGAAGAAGTAATAACAAGAACAAGAAGAAAAAGAAAGGAAAAGGAGAACTTGTGTCAGAGAGAAATACGTTATGGTATTATATACAACGCACCCACTCCAGGACTAGACATTTCTGTAGTGAAGATATTGAAGGAACAGCCAAGATGAATGGAAACACAGGACTTCAAAGACATAATGTATAGTTCAATGGATATTCTACTGGTACAATAGAATAAAATATGCCATCAGCATACCCCAAGCAAGGTCTGTTTAAGTATCTGAAATGTC... |
Task1_train_8559 | Here is a variant affecting CNGA1, LOC101927157 (cyclic nucleotide gated channel subunit alpha 1| uncharacterized LOC101927157) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinitis pigmentosa | GCTGATTGATTACCAATGTTTTCCACATCCACACACTTGCCAGATAGTTTCCTTTTCTTTTCTAGGACCATCCTCTCATTAACTCCTTCCTGGTTCTCTACATGCATGCTTCTCAAGCTTCAACGTGAATATGAAACACTTGCTAAGATGCAGATTCTGATGCAGTAGGTAGGGGTAGAGCCCAGGATTCTGCATTTCTGAGAAGCTCCCAGGTGATGCTCATGCTGGTCTCCAGAAATTTCAAGTCGCCTTTTTTAACATTATGACAATTTCCCTTGTTAATCGTCCAGAAATATTATTACTTTATCCCTTTTTCTTAC... | GCTGATTGATTACCAATGTTTTCCACATCCACACACTTGCCAGATAGTTTCCTTTTCTTTTCTAGGACCATCCTCTCATTAACTCCTTCCTGGTTCTCTACATGCATGCTTCTCAAGCTTCAACGTGAATATGAAACACTTGCTAAGATGCAGATTCTGATGCAGTAGGTAGGGGTAGAGCCCAGGATTCTGCATTTCTGAGAAGCTCCCAGGTGATGCTCATGCTGGTCTCCAGAAATTTCAAGTCGCCTTTTTTAACATTATGACAATTTCCCTTGTTAATCGTCCAGAAATATTATTACTTTATCCCTTTTTCTTAC... |
Task1_train_8560 | A variant found in Chromosome 4 affects CNGA1, LOC101927157 (cyclic nucleotide gated channel subunit alpha 1| uncharacterized LOC101927157). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Retinitis pigmentosa 49 | CTTGATATTTCCTGGGTGATAGAAATGTCTTTTGTTCTGGCCAGGTGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGAGGATCCCTTGAGTGCAGGAGTTTGAGACCAGCTTAAGTCTCTATGATATTATTTGAAAGAAAAAAAGAAAGAAAGAAAGAGAGAGAGAGAGGGATGGAGGGAGGGAGGGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAGGAAAGAAAGAAA... | CTTGATATTTCCTGGGTGATAGAAATGTCTTTTGTTCTGGCCAGGTGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGAGGATCCCTTGAGTGCAGGAGTTTGAGACCAGCTTAAGTCTCTATGATATTATTTGAAAGAAAAAAAGAAAGAAAGAAAGAGAGAGAGAGAGGGATGGAGGGAGGGAGGGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAGAAAGAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAGGAAAGAAAGAAA... |
Task1_train_8561 | This sequence change occurs on Chromosome 4, altering SGCB (sarcoglycan beta). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Sialidosis | GTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACAACTACTTTT... | GTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACAACTACTTTT... |
Task1_train_8562 | This sequence change occurs on Chromosome 4, altering SGCB (sarcoglycan beta). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | GTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACAACTACTTTT... | GTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACAACTACTTTT... |
Task1_train_8563 | The following genetic variant occurs in SGCB (sarcoglycan beta) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2E | GTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACAACTACTTTT... | GTCATATTAACTACAAGGTAGAATGGGACAAGAAGTGGCAGGTAGAAAAAAATAAAAGGTTTGGTAAGTTGCTAATGGTCTCTAAACAAATCTCTTGCTTCTGTGACTTTCTACTGCTGAGAACAGCAGTTGTACTGTGGCTATTCTTCAACAGTGTTCTTAGAAGAATGGCTTCTTACACCACAATATACATACAAATTAACTCTGTAGGCAACTGAGTTTCTGGCAAGAATTACATTTTATGTCCATCTTTATTATTTAGAGATGGGATTATGTGTTCTGGGGGAAAAACTGCTTATAAAAGTAAAACAACTACTTTT... |
Task1_train_8564 | Gene SGCB (sarcoglycan beta), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2E | AAAATAATGAATTTCACAAATTGTTTTGTAACTTTCTTTTACTTCACAACCCACTTTGAACATCTTTCCATGTCAAAAAATAGACAATTATATCATTTTCAATAATTGTATACTATTCCACATATGGATTTATGTACCCAAGAACCTAATAATTCTCTTAAGCTCTTAAAAGAATACTCACCGCCTTTAACTCCATATTACCACCCATGTGAAATTCAATGGTTTTGCCCATAATGAATACACCTTCATTTCCACGCACAATAGCACGCCCATCAACTTTTATATTTAAATCACTGGTAGCATTGCTGGTAATCTGAAAA... | AAAATAATGAATTTCACAAATTGTTTTGTAACTTTCTTTTACTTCACAACCCACTTTGAACATCTTTCCATGTCAAAAAATAGACAATTATATCATTTTCAATAATTGTATACTATTCCACATATGGATTTATGTACCCAAGAACCTAATAATTCTCTTAAGCTCTTAAAAGAATACTCACCGCCTTTAACTCCATATTACCACCCATGTGAAATTCAATGGTTTTGCCCATAATGAATACACCTTCATTTCCACGCACAATAGCACGCCCATCAACTTTTATATTTAAATCACTGGTAGCATTGCTGGTAATCTGAAAA... |
Task1_train_8565 | Gene LOC129992585, SGCB (ATAC-STARR-seq lymphoblastoid silent region 15421| sarcoglycan beta) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2E | TTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCACTCCAAAAAGAGAT... | TTGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCACTCCAAAAAGAGAT... |
Task1_train_8566 | This variant affects gene LOC129992585, SGCB (ATAC-STARR-seq lymphoblastoid silent region 15421| sarcoglycan beta) located on Chromosome 4. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2E | TGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCACTCCAAAAAGAGATG... | TGAAGGATGGACAGGAGTTAACCAGGCAAAAGAGCTAAGAAGGTCACTCTAGGCAGAGGAAGAAGCATGGAGACTTTGAGAGGCAACCATCTCTGGGAGAACTAATTTTGGTCACTTTATGTGGATGGTGAGAAGGATAGGTGTAGGGATGAAGCAAGAAATACAATGAGAGATGTGCTTAGGGGCCAGTAAGCAACATAAATACCATGACAAGAACAATGGACTTTATCCTGAAGGCAAAGGGGAACTACTGAAGAGTTAAAATAGGTTTCCTATACAATCAGATTTGCATTGTAGTAAAATCACTCCAAAAAGAGATG... |
Task1_train_8567 | Mutation context: Chromosome 4, Gene GSX2 (GS homeobox 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Diencephalic-mesencephalic junction dysplasia syndrome 2 | CAAACCGCAGGCCTCACACTTCACCGCGCCGCAGCCACCCCTACCACAGAGGAGCTGGAAACACTGAGCATTCCTATTAAATAAGCCTCCAAGTCCCCACCTGGTACGCTTTGCGGTGGGGCGTGGGGAAGAGTTGGGCTGCGGCCAGGGTAGCGAGAGGGGGTGGGATGGAGGATGCAGCGCTGTGATTTCTCAGTAAAGCGTGGAGAAAGAGGGGGAGGAGGCCGGCCTCCCCGGGAAATTAACAAAACCTACACTTTGCAAAGTCTCCCCCATCCCCCTCCCCCGAGTTCTTCCCCGCCGCGCGCCCGCCCCTCCTC... | CAAACCGCAGGCCTCACACTTCACCGCGCCGCAGCCACCCCTACCACAGAGGAGCTGGAAACACTGAGCATTCCTATTAAATAAGCCTCCAAGTCCCCACCTGGTACGCTTTGCGGTGGGGCGTGGGGAAGAGTTGGGCTGCGGCCAGGGTAGCGAGAGGGGGTGGGATGGAGGATGCAGCGCTGTGATTTCTCAGTAAAGCGTGGAGAAAGAGGGGGAGGAGGCCGGCCTCCCCGGGAAATTAACAAAACCTACACTTTGCAAAGTCTCCCCCATCCCCCTCCCCCGAGTTCTTCCCCGCCGCGCGCCCGCCCCTCCTC... |
Task1_train_8568 | Chromosome 4 houses a mutation in gene PDGFRA (platelet derived growth factor receptor alpha). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Neoplasm | CAAAACAAACCCTCTTTTTCCCTGGGAACTAGACTGCCTTTGCGGGACTAACGAATTAGCTACAAGATTAGAAAGTATGGTTTAGGGGTCACTGTTGTAAAACCTGAGGTCAGTGCTTGAGATATTTTGGAGACCCTGTATTTCGATGCACCAGCTGACACCACCCAGGTCAATAAACTGGCTCATCTGATCTTGGGGCCCCTACCTAGGAACTGACTCAGTGCAAGAGGACAGCATCAGCTCCCTATAATTTCATCTTTGACCCAACCAATCAGCACTCCCCTTTTCACCCCCTACCCACCAAATCATCCTTAAAAACC... | CAAAACAAACCCTCTTTTTCCCTGGGAACTAGACTGCCTTTGCGGGACTAACGAATTAGCTACAAGATTAGAAAGTATGGTTTAGGGGTCACTGTTGTAAAACCTGAGGTCAGTGCTTGAGATATTTTGGAGACCCTGTATTTCGATGCACCAGCTGACACCACCCAGGTCAATAAACTGGCTCATCTGATCTTGGGGCCCCTACCTAGGAACTGACTCAGTGCAAGAGGACAGCATCAGCTCCCTATAATTTCATCTTTGACCCAACCAATCAGCACTCCCCTTTTCACCCCCTACCCACCAAATCATCCTTAAAAACC... |
Task1_train_8569 | A sequence alteration has been identified in PDGFRA (platelet derived growth factor receptor alpha) on Chromosome 4. Is it disease-inducing or harmless? | Pathogenic; Gastrointestinal stromal tumor | CGAGTAATAGTAGTAATAGTAGAATAGGTCTCCCGTACAGCTGGCTCTGTGTGAATTAAACCCTTTTTCTATTGCAATTCCCCTGTCTTGGTAAATCGGCTCTGTCTAGGCAGCGGACAAGGAGAATCCATGGGGCGGTTATAAGAGCTGCCCCCCAATTTCAAATATTTATATCTAAGCTTTCTTTATTTTCCTGCCTATTTCCCAACAAGGGATGAGGAGCTTAGGGAGTTAAAAAGTAGTAAAATATGGGGAAAAGGGCATAATTCCCATTATACCAAGAGGCATTGCTGGTGAAGCAATACCTTTCCAGGTACGAT... | CGAGTAATAGTAGTAATAGTAGAATAGGTCTCCCGTACAGCTGGCTCTGTGTGAATTAAACCCTTTTTCTATTGCAATTCCCCTGTCTTGGTAAATCGGCTCTGTCTAGGCAGCGGACAAGGAGAATCCATGGGGCGGTTATAAGAGCTGCCCCCCAATTTCAAATATTTATATCTAAGCTTTCTTTATTTTCCTGCCTATTTCCCAACAAGGGATGAGGAGCTTAGGGAGTTAAAAAGTAGTAAAATATGGGGAAAAGGGCATAATTCCCATTATACCAAGAGGCATTGCTGGTGAAGCAATACCTTTCCAGGTACGAT... |
Task1_train_8570 | A genetic alteration is present in PDGFRA (platelet derived growth factor receptor alpha) on Chromosome 4. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | TGCGCCCAGCCTCTGCTTCTCTTTTAAATATAAGTTTCAACTTCAAGTCATTTCTTTGCTTCTGCATCTGACTGTAGGCTATTGGAAGCAGCCAGGCCATATCGTGAACACTTTGCTGCTTAGAAATTTCTTCCACCAGATATCCTAGGTCATCACTCTCAAGTTCAAACTTCCACATATTCCTAGGGCATGGACATAATGTGGCCAAGTTCTTTGCTGAAGCTTAACAAGGGTGACCTTTACTCCAGTTCCCAATAAGTTCTTCATTTTCATCCGAGACCTTGGCAGCCTGGATTTCATTGTCCATATCATTATCAGCA... | TGCGCCCAGCCTCTGCTTCTCTTTTAAATATAAGTTTCAACTTCAAGTCATTTCTTTGCTTCTGCATCTGACTGTAGGCTATTGGAAGCAGCCAGGCCATATCGTGAACACTTTGCTGCTTAGAAATTTCTTCCACCAGATATCCTAGGTCATCACTCTCAAGTTCAAACTTCCACATATTCCTAGGGCATGGACATAATGTGGCCAAGTTCTTTGCTGAAGCTTAACAAGGGTGACCTTTACTCCAGTTCCCAATAAGTTCTTCATTTTCATCCGAGACCTTGGCAGCCTGGATTTCATTGTCCATATCATTATCAGCA... |
Task1_train_8571 | A variant was discovered in gene KIT (KIT proto-oncogene, receptor tyrosine kinase), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Gastrointestinal stromal tumor | GAGTAATTAGATTTCCATTCTATACACAGGAGGTAATGTGTGTGGGAAATGTGACTGTAGTTATCATGAAAAAATTACCTCAGTAGTTAATTGCCAAGTTACCAAAAAGTAATGATCGCACAATTACAACATACATATGGCATTTGCAAGCGACCGCTTTTAAAAAGGGTTTCTTCTTGATAATGTGCCCAGCCCCTGAACAGAGAACATCTGGCACTGTGCTGCTTGCCCCTCACCATCCACACTTAAGCCTTAAATTGCCCTTTTGCATTACCTGAAGACGAAAATGGGGTCACCACAGCTGTTTTTATCCATCAATT... | GAGTAATTAGATTTCCATTCTATACACAGGAGGTAATGTGTGTGGGAAATGTGACTGTAGTTATCATGAAAAAATTACCTCAGTAGTTAATTGCCAAGTTACCAAAAAGTAATGATCGCACAATTACAACATACATATGGCATTTGCAAGCGACCGCTTTTAAAAAGGGTTTCTTCTTGATAATGTGCCCAGCCCCTGAACAGAGAACATCTGGCACTGTGCTGCTTGCCCCTCACCATCCACACTTAAGCCTTAAATTGCCCTTTTGCATTACCTGAAGACGAAAATGGGGTCACCACAGCTGTTTTTATCCATCAATT... |
Task1_train_8572 | A genomic change on Chromosome 4 affects KIT (KIT proto-oncogene, receptor tyrosine kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cutaneous mastocytosis | CCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCTAAAGTGCTGAGATTACAGGTGTGAGCTACTGCGCCCGGCCCCTTGAAGATTTTTTATGCTTTCCTCCTCTATGCTATTTCTTTTCAACCATTCGTGTACCCTTTTGAAGCTTGTTTATTTTAGGGATCTACTGTGTACCAGCATATATGCCTGCCATTTTATTGAATTCCTTTCCAATCCTT... | CCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCTAAAGTGCTGAGATTACAGGTGTGAGCTACTGCGCCCGGCCCCTTGAAGATTTTTTATGCTTTCCTCCTCTATGCTATTTCTTTTCAACCATTCGTGTACCCTTTTGAAGCTTGTTTATTTTAGGGATCTACTGTGTACCAGCATATATGCCTGCCATTTTATTGAATTCCTTTCCAATCCTT... |
Task1_train_8573 | The gene KIT (KIT proto-oncogene, receptor tyrosine kinase) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Gastrointestinal stromal tumor | TTTTATGCTTTCCTCCTCTATGCTATTTCTTTTCAACCATTCGTGTACCCTTTTGAAGCTTGTTTATTTTAGGGATCTACTGTGTACCAGCATATATGCCTGCCATTTTATTGAATTCCTTTCCAATCCTTTCAGTAACCCTCTGCAATGGGTATTACTATCCCTGTTTTACAGTCGTAGAAACTCAGTGTTGGTGGGGGTTAAAAACTCATCAGGATTCAAACCCGCATCTGACTCCGAAGCCTCCTCTGCCTTCTCTTCCCCAGTGCTTTTTTCACTCACTAGGTCACCAAAGTGCTTATTCTTAGACACTTGTAAAA... | TTTTATGCTTTCCTCCTCTATGCTATTTCTTTTCAACCATTCGTGTACCCTTTTGAAGCTTGTTTATTTTAGGGATCTACTGTGTACCAGCATATATGCCTGCCATTTTATTGAATTCCTTTCCAATCCTTTCAGTAACCCTCTGCAATGGGTATTACTATCCCTGTTTTACAGTCGTAGAAACTCAGTGTTGGTGGGGGTTAAAAACTCATCAGGATTCAAACCCGCATCTGACTCCGAAGCCTCCTCTGCCTTCTCTTCCCCAGTGCTTTTTTCACTCACTAGGTCACCAAAGTGCTTATTCTTAGACACTTGTAAAA... |
Task1_train_8574 | Mutation context: Chromosome 4, Gene KIT (KIT proto-oncogene, receptor tyrosine kinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Gastrointestinal stromal tumor | TTTGAAGCTTGTTTATTTTAGGGATCTACTGTGTACCAGCATATATGCCTGCCATTTTATTGAATTCCTTTCCAATCCTTTCAGTAACCCTCTGCAATGGGTATTACTATCCCTGTTTTACAGTCGTAGAAACTCAGTGTTGGTGGGGGTTAAAAACTCATCAGGATTCAAACCCGCATCTGACTCCGAAGCCTCCTCTGCCTTCTCTTCCCCAGTGCTTTTTTCACTCACTAGGTCACCAAAGTGCTTATTCTTAGACACTTGTAAAAGGACATTTTCTGTTGATTATGAACCTCTAACTTTGTTTTAAAAGTATGCCA... | TTTGAAGCTTGTTTATTTTAGGGATCTACTGTGTACCAGCATATATGCCTGCCATTTTATTGAATTCCTTTCCAATCCTTTCAGTAACCCTCTGCAATGGGTATTACTATCCCTGTTTTACAGTCGTAGAAACTCAGTGTTGGTGGGGGTTAAAAACTCATCAGGATTCAAACCCGCATCTGACTCCGAAGCCTCCTCTGCCTTCTCTTCCCCAGTGCTTTTTTCACTCACTAGGTCACCAAAGTGCTTATTCTTAGACACTTGTAAAAGGACATTTTCTGTTGATTATGAACCTCTAACTTTGTTTTAAAAGTATGCCA... |
Task1_train_8575 | A variant was discovered in gene KIT (KIT proto-oncogene, receptor tyrosine kinase), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Piebaldism | AAGCTTGTTTATTTTAGGGATCTACTGTGTACCAGCATATATGCCTGCCATTTTATTGAATTCCTTTCCAATCCTTTCAGTAACCCTCTGCAATGGGTATTACTATCCCTGTTTTACAGTCGTAGAAACTCAGTGTTGGTGGGGGTTAAAAACTCATCAGGATTCAAACCCGCATCTGACTCCGAAGCCTCCTCTGCCTTCTCTTCCCCAGTGCTTTTTTCACTCACTAGGTCACCAAAGTGCTTATTCTTAGACACTTGTAAAAGGACATTTTCTGTTGATTATGAACCTCTAACTTTGTTTTAAAAGTATGCCACATC... | AAGCTTGTTTATTTTAGGGATCTACTGTGTACCAGCATATATGCCTGCCATTTTATTGAATTCCTTTCCAATCCTTTCAGTAACCCTCTGCAATGGGTATTACTATCCCTGTTTTACAGTCGTAGAAACTCAGTGTTGGTGGGGGTTAAAAACTCATCAGGATTCAAACCCGCATCTGACTCCGAAGCCTCCTCTGCCTTCTCTTCCCCAGTGCTTTTTTCACTCACTAGGTCACCAAAGTGCTTATTCTTAGACACTTGTAAAAGGACATTTTCTGTTGATTATGAACCTCTAACTTTGTTTTAAAAGTATGCCACATC... |
Task1_train_8576 | A variant found in Chromosome 4 affects KIT (KIT proto-oncogene, receptor tyrosine kinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Piebaldism, progressive | GCTCTGCTTCTGTACTGCCAGTGGATGTGCAGACACTAAACTCATCTGGGCCACCGTTTGGAAAGCTAGTGGTTCAGAGTTCTATAGATTCTAGTGCATTCAAGCACAATGGCACGGTTGAATGTAAGGCTTACAACGATGTGGGCAAGACTTCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCA... | GCTCTGCTTCTGTACTGCCAGTGGATGTGCAGACACTAAACTCATCTGGGCCACCGTTTGGAAAGCTAGTGGTTCAGAGTTCTATAGATTCTAGTGCATTCAAGCACAATGGCACGGTTGAATGTAAGGCTTACAACGATGTGGGCAAGACTTCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCA... |
Task1_train_8577 | Gene KIT (KIT proto-oncogene, receptor tyrosine kinase) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Gastrointestinal stromal tumor | TCTGCTTCTGTACTGCCAGTGGATGTGCAGACACTAAACTCATCTGGGCCACCGTTTGGAAAGCTAGTGGTTCAGAGTTCTATAGATTCTAGTGCATTCAAGCACAATGGCACGGTTGAATGTAAGGCTTACAACGATGTGGGCAAGACTTCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATC... | TCTGCTTCTGTACTGCCAGTGGATGTGCAGACACTAAACTCATCTGGGCCACCGTTTGGAAAGCTAGTGGTTCAGAGTTCTATAGATTCTAGTGCATTCAAGCACAATGGCACGGTTGAATGTAAGGCTTACAACGATGTGGGCAAGACTTCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATC... |
Task1_train_8578 | Gene KIT (KIT proto-oncogene, receptor tyrosine kinase) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Piebaldism | TCTGCTTCTGTACTGCCAGTGGATGTGCAGACACTAAACTCATCTGGGCCACCGTTTGGAAAGCTAGTGGTTCAGAGTTCTATAGATTCTAGTGCATTCAAGCACAATGGCACGGTTGAATGTAAGGCTTACAACGATGTGGGCAAGACTTCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATC... | TCTGCTTCTGTACTGCCAGTGGATGTGCAGACACTAAACTCATCTGGGCCACCGTTTGGAAAGCTAGTGGTTCAGAGTTCTATAGATTCTAGTGCATTCAAGCACAATGGCACGGTTGAATGTAAGGCTTACAACGATGTGGGCAAGACTTCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATC... |
Task1_train_8579 | Mutation context: Chromosome 4, Gene KIT (KIT proto-oncogene, receptor tyrosine kinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Gastrointestinal stromal tumor | GACTTCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATCAAACTCACTAAGTTTCATTTTGTACTAGCTTGTTAAGTATATGCTTTTACCAGAGCAATTTTAACCATGCTACTTTATATATTTTATATGTATGTGTGTCTCTATTAGTTGTATATTTACAATTGTCTCCATTAAAAAGAGCTAGA... | GACTTCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATCAAACTCACTAAGTTTCATTTTGTACTAGCTTGTTAAGTATATGCTTTTACCAGAGCAATTTTAACCATGCTACTTTATATATTTTATATGTATGTGTGTCTCTATTAGTTGTATATTTACAATTGTCTCCATTAAAAAGAGCTAGA... |
Task1_train_8580 | Consider a variant on Chromosome 4 in gene KIT (KIT proto-oncogene, receptor tyrosine kinase). Determine its clinical classification and disease relevance. | Pathogenic; Gastrointestinal stromal tumor | GACTTCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATCAAACTCACTAAGTTTCATTTTGTACTAGCTTGTTAAGTATATGCTTTTACCAGAGCAATTTTAACCATGCTACTTTATATATTTTATATGTATGTGTGTCTCTATTAGTTGTATATTTACAATTGTCTCCATTAAAAAGAGCTAGA... | GACTTCTGCCTATTTTAACTTTGCATTTAAAGGTAACAACAAAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATCAAACTCACTAAGTTTCATTTTGTACTAGCTTGTTAAGTATATGCTTTTACCAGAGCAATTTTAACCATGCTACTTTATATATTTTATATGTATGTGTGTCTCTATTAGTTGTATATTTACAATTGTCTCCATTAAAAAGAGCTAGA... |
Task1_train_8581 | A variant found in Chromosome 4 affects KIT (KIT proto-oncogene, receptor tyrosine kinase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Gastrointestinal stromal tumor | AAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATCAAACTCACTAAGTTTCATTTTGTACTAGCTTGTTAAGTATATGCTTTTACCAGAGCAATTTTAACCATGCTACTTTATATATTTTATATGTATGTGTGTCTCTATTAGTTGTATATTTACAATTGTCTCCATTAAAAAGAGCTAGAGAAAGCAAATGGGGGAATATATTTACCTTACACCCAAACAG... | AAGGTATATTTCTTTTTAATCCAATTTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATCAAACTCACTAAGTTTCATTTTGTACTAGCTTGTTAAGTATATGCTTTTACCAGAGCAATTTTAACCATGCTACTTTATATATTTTATATGTATGTGTGTCTCTATTAGTTGTATATTTACAATTGTCTCCATTAAAAAGAGCTAGAGAAAGCAAATGGGGGAATATATTTACCTTACACCCAAACAG... |
Task1_train_8582 | This mutation occurs in KIT (KIT proto-oncogene, receptor tyrosine kinase) on Chromosome 4. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Piebaldism | TTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATCAAACTCACTAAGTTTCATTTTGTACTAGCTTGTTAAGTATATGCTTTTACCAGAGCAATTTTAACCATGCTACTTTATATATTTTATATGTATGTGTGTCTCTATTAGTTGTATATTTACAATTGTCTCCATTAAAAAGAGCTAGAGAAAGCAAATGGGGGAATATATTTACCTTACACCCAAACAGAATTAGAACAATCTAAAATTTAAAT... | TTAAGGGGATGTTTAGGCTCTGTCTACCATATCAGTCATGATTTTAAGTTCATTCCAACATTGACCATGTCATTTCTGGTAATACATGCATCACACCATACTGTCATCAAACTCACTAAGTTTCATTTTGTACTAGCTTGTTAAGTATATGCTTTTACCAGAGCAATTTTAACCATGCTACTTTATATATTTTATATGTATGTGTGTCTCTATTAGTTGTATATTTACAATTGTCTCCATTAAAAAGAGCTAGAGAAAGCAAATGGGGGAATATATTTACCTTACACCCAAACAGAATTAGAACAATCTAAAATTTAAAT... |
Task1_train_8583 | Given this context: Chromosome 4, gene KIT (KIT proto-oncogene, receptor tyrosine kinase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Piebaldism with sensorineural deafness | ATTCATTGTGTCAAGAGACGGGAAATTTCTAACCTGAGTCCTCTATATGATTATACACAAAAAGGACACCTAGTTTCTGGGCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTG... | ATTCATTGTGTCAAGAGACGGGAAATTTCTAACCTGAGTCCTCTATATGATTATACACAAAAAGGACACCTAGTTTCTGGGCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTG... |
Task1_train_8584 | Mutation context: Chromosome 4, Gene KIT (KIT proto-oncogene, receptor tyrosine kinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | AAAGGACACCTAGTTTCTGGGCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTGGAGTTTCTTATGTTGTCCCAACCAAGGCCGACAAAAGGAGATCTGTGAGAATAGGTGAGT... | AAAGGACACCTAGTTTCTGGGCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTGGAGTTTCTTATGTTGTCCCAACCAAGGCCGACAAAAGGAGATCTGTGAGAATAGGTGAGT... |
Task1_train_8585 | This gene mutation involves KIT (KIT proto-oncogene, receptor tyrosine kinase) on Chromosome 4. Is it associated with any clinical condition, or is it benign? | Pathogenic; Gastrointestinal stromal tumor | GTTTCTGGGCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTGGAGTTTCTTATGTTGTCCCAACCAAGGCCGACAAAAGGAGATCTGTGAGAATAGGTGAGTACCTACCTATCA... | GTTTCTGGGCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTGGAGTTTCTTATGTTGTCCCAACCAAGGCCGACAAAAGGAGATCTGTGAGAATAGGTGAGTACCTACCTATCA... |
Task1_train_8586 | This mutation is located in gene KIT (KIT proto-oncogene, receptor tyrosine kinase) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary cancer-predisposing syndrome | GTTTCTGGGCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTGGAGTTTCTTATGTTGTCCCAACCAAGGCCGACAAAAGGAGATCTGTGAGAATAGGTGAGTACCTACCTATCA... | GTTTCTGGGCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTGGAGTTTCTTATGTTGTCCCAACCAAGGCCGACAAAAGGAGATCTGTGAGAATAGGTGAGTACCTACCTATCA... |
Task1_train_8587 | A mutation on Chromosome 4 affecting KIT (KIT proto-oncogene, receptor tyrosine kinase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Gastrointestinal stromal tumor | GCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTGGAGTTTCTTATGTTGTCCCAACCAAGGCCGACAAAAGGAGATCTGTGAGAATAGGTGAGTACCTACCTATCAAGCAACCA... | GCATGGACCCCAATATCGATTATTAAAAACTCATTTCTTACAGAACAGGATTTTCAAACTCTTTATTCAAACTTTACATGACTTTCCTCAAATTGGTCCAGTCTATTATGTAGCAAAGGGGATGAGGAGGTAGAGCATGACCCATGAGTGCCCTTCTACATGTCCCACTTGATTCAGTCATGACTTGTTTCATCTCTCCCAGCAGCGATAGTACTAATGAGTACATGGACATGAAACCTGGAGTTTCTTATGTTGTCCCAACCAAGGCCGACAAAAGGAGATCTGTGAGAATAGGTGAGTACCTACCTATCAAGCAACCA... |
Task1_train_8588 | This variant impacts the gene KIT (KIT proto-oncogene, receptor tyrosine kinase) on Chromosome 4. Is the change likely to result in a pathogenic outcome? | Pathogenic; Piebaldism | ATTGGTTAGTGACCTTAGTTTGAAATGACAAAGAGGGGTTGGCTCTATCAGGCTTCCAGATTGTAGACTCCAGTTCAAGTCAGTTGAACTAACCAATCACAGATCTCGCTTTCACCAGGCTAGTGGGTAAGGAGAATTTCTGGAACAAGATAAGAAGAAGGAAACTCATATATGTTACCGCCCCACATTTTTGTCATCATCATTTGAGATCTCCTTGTTGTGTCAGGTTCTCTGAAGTTCTTTCCTTTCACATGAGTTCTTCATTGTTTTTCATGTCATGGCCCCTTTTAGAGCCTGGTAAAGCCTATGGGACCCTTATC... | ATTGGTTAGTGACCTTAGTTTGAAATGACAAAGAGGGGTTGGCTCTATCAGGCTTCCAGATTGTAGACTCCAGTTCAAGTCAGTTGAACTAACCAATCACAGATCTCGCTTTCACCAGGCTAGTGGGTAAGGAGAATTTCTGGAACAAGATAAGAAGAAGGAAACTCATATATGTTACCGCCCCACATTTTTGTCATCATCATTTGAGATCTCCTTGTTGTGTCAGGTTCTCTGAAGTTCTTTCCTTTCACATGAGTTCTTCATTGTTTTTCATGTCATGGCCCCTTTTAGAGCCTGGTAAAGCCTATGGGACCCTTATC... |
Task1_train_8589 | The gene KDR (kinase insert domain receptor), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Capillary infantile hemangioma | AAGAAACAAAGCAAAATGAAGTAGTCCCAGCCTTAGTAAAGGGCAATTTTAATATCATATTGTAGAAAACCACACCAACTCTTTCCTTATGCACAGGTGCTGGGAGAGAGAAAAAAGAAAGCTGCCTTTAGAACCCCTCTGCAAATCAGGAAAGGACTGCAGTGCATGTGTTTTAAATAAGCCCAGACATCCCATTATGCAAATAAAATGCTGAAAATCAGACGTGGGAGGGGCTTCTGAGATGCAGTGTCCAGTCTAATTCCGGACACAGACCCATGGCTTTCTGTATCCTTGCCAGAGAGCCATAAGCATGTTCTCAT... | AAGAAACAAAGCAAAATGAAGTAGTCCCAGCCTTAGTAAAGGGCAATTTTAATATCATATTGTAGAAAACCACACCAACTCTTTCCTTATGCACAGGTGCTGGGAGAGAGAAAAAAGAAAGCTGCCTTTAGAACCCCTCTGCAAATCAGGAAAGGACTGCAGTGCATGTGTTTTAAATAAGCCCAGACATCCCATTATGCAAATAAAATGCTGAAAATCAGACGTGGGAGGGGCTTCTGAGATGCAGTGTCCAGTCTAATTCCGGACACAGACCCATGGCTTTCTGTATCCTTGCCAGAGAGCCATAAGCATGTTCTCAT... |
Task1_train_8590 | A variant has been detected on Chromosome 4 in TMEM165 (transmembrane protein 165). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; TMEM165-congenital disorder of glycosylation | TGGTGGTTCCCTTCTCTGGAACTCAGACGTTGAGAAGAGAAGGGTATTTACCACCTCCTCTAGCAGTCTGTTCCAACTTTGGGTGCGTCTTTGGAGACAGAAATCTCTCCTCTCTGTTAAGCTAAAACCTGCCATCTCTAACTTTTTAGTTCTGCCTCTTAGGACCGTATGGATTGGATAGATTCACTTAAAAACTTTCCCAATTATTGGAACATGATACCCCGTCCTTCCTGGTCCCTCACGGGATTGTTTTAGAGCCAAGTCAGCAAACTTCTTGTAGTTGCCATGTATTTGCAGGCTACCAATCTCTGATGCATAAT... | TGGTGGTTCCCTTCTCTGGAACTCAGACGTTGAGAAGAGAAGGGTATTTACCACCTCCTCTAGCAGTCTGTTCCAACTTTGGGTGCGTCTTTGGAGACAGAAATCTCTCCTCTCTGTTAAGCTAAAACCTGCCATCTCTAACTTTTTAGTTCTGCCTCTTAGGACCGTATGGATTGGATAGATTCACTTAAAAACTTTCCCAATTATTGGAACATGATACCCCGTCCTTCCTGGTCCCTCACGGGATTGTTTTAGAGCCAAGTCAGCAAACTTCTTGTAGTTGCCATGTATTTGCAGGCTACCAATCTCTGATGCATAAT... |
Task1_train_8591 | Assess the clinical impact of this variant on gene TMEM165 (transmembrane protein 165), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; TMEM165-congenital disorder of glycosylation | GCAACGCAGTTTCTTCCCAGGGCTGTTGCCATAGCATCGCAGTGGATCACCCTTCCTTCAGTCTTGTTCCCCTCTGGTTCTTTCTCTCCACTAGACTTTAAAAAATTTTTGAGATAGGGTCTTGCTCTGTTGCCCAGGATGGAGAACAATCATAGCTCACTGCAGCCACGACCTCCTGGGCTCAAATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACCACTTGTGCTTGCTAGGATGCCTGGCTAATTTTTAATTTTTTTGTAGAGACAAGGTCTCACTGTGTTGCCTAGGCTAGTCTCAAACTGCCAGGCTCAA... | GCAACGCAGTTTCTTCCCAGGGCTGTTGCCATAGCATCGCAGTGGATCACCCTTCCTTCAGTCTTGTTCCCCTCTGGTTCTTTCTCTCCACTAGACTTTAAAAAATTTTTGAGATAGGGTCTTGCTCTGTTGCCCAGGATGGAGAACAATCATAGCTCACTGCAGCCACGACCTCCTGGGCTCAAATGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACCACTTGTGCTTGCTAGGATGCCTGGCTAATTTTTAATTTTTTTGTAGAGACAAGGTCTCACTGTGTTGCCTAGGCTAGTCTCAAACTGCCAGGCTCAA... |
Task1_train_8592 | A variant on Chromosome 4 in gene PAICS (phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Phosphoribosylaminoimidazole carboxylase deficiency | CTGAGACTACAGGCATGCACCACCATGCTGGGCTAATTTTTGTTTTTTTGGTAGAGATGGGATTTTGCCCTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTAAAGCAATCTGCCCTCCTTGTCTTCCTAAAGTGCTGAGATTACAGATGTGAGCCACTGCACCTGGCCAGACGTTTCTTGTTCAAGTTACTGCAACAGCATCCTAACTGGTCTTCCAAGCTCTAGTTTTTGTTCACTCACCCCTTCCTCCCTTCATTGTCCATACAGAAGCCGTAATGATCTTTCCAAATAGCGTTTTGCTTTAGCACTTAAAAGCCTT... | CTGAGACTACAGGCATGCACCACCATGCTGGGCTAATTTTTGTTTTTTTGGTAGAGATGGGATTTTGCCCTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTAAAGCAATCTGCCCTCCTTGTCTTCCTAAAGTGCTGAGATTACAGATGTGAGCCACTGCACCTGGCCAGACGTTTCTTGTTCAAGTTACTGCAACAGCATCCTAACTGGTCTTCCAAGCTCTAGTTTTTGTTCACTCACCCCTTCCTCCCTTCATTGTCCATACAGAAGCCGTAATGATCTTTCCAAATAGCGTTTTGCTTTAGCACTTAAAAGCCTT... |
Task1_train_8593 | A variant affecting Chromosome 4, within the gene REST (RE1 silencing transcription factor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss | TCTCAAGATTTACCATAAGAAATTTAGGGTGGAGGGAGTATGGGAATTTTATTTTATTTTTATTTATTTTTGAGACGAAGTTTCGCTCTTGTCGCCCAGGCTGTAGTGCAGTGGTGCGATCTTGGCTCACTGTAATCTTGCCTTCTGGGTCCAAGCAATTCTCCTTCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCTGCCACTACACCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACTGCCTTCGCCTCCCAAAGTGC... | TCTCAAGATTTACCATAAGAAATTTAGGGTGGAGGGAGTATGGGAATTTTATTTTATTTTTATTTATTTTTGAGACGAAGTTTCGCTCTTGTCGCCCAGGCTGTAGTGCAGTGGTGCGATCTTGGCTCACTGTAATCTTGCCTTCTGGGTCCAAGCAATTCTCCTTCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCATCTGCCACTACACCCGGCTAATTTTTTGTATTTTTAGTAGAAACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACTGCCTTCGCCTCCCAAAGTGC... |
Task1_train_8594 | Given a variant located on Chromosome 4 and affecting IGFBP7 (insulin like growth factor binding protein 7), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Familial retinal arterial macroaneurysm | GGGCTGCCGCAATAAAACCCAGGTGTGTATAGACTTTACTGGCAGTTGATATTTGTTTAGAGGAAACTGTGTTGGTCTGATTATCCAGGCAGAATTAGTGTGGCAGAACAGATTGGCATTTTCACAATTTTGATAGCATGCTTCTGTGAGATTCCGAGTTCTAAATAAGGAAAAGATAATTTGATTTTTCTAAAAACCAGTTTAGGTTTTAGTGTGGTAATTTCTCTAAGCTATTCATCTTTTGGAAATAATAAGACTTTGTACAAGGGATTTTAAACAATGAGTTTTTGAAAACCTTTTAGTTGAGGTGGGTGAATATA... | GGGCTGCCGCAATAAAACCCAGGTGTGTATAGACTTTACTGGCAGTTGATATTTGTTTAGAGGAAACTGTGTTGGTCTGATTATCCAGGCAGAATTAGTGTGGCAGAACAGATTGGCATTTTCACAATTTTGATAGCATGCTTCTGTGAGATTCCGAGTTCTAAATAAGGAAAAGATAATTTGATTTTTCTAAAAACCAGTTTAGGTTTTAGTGTGGTAATTTCTCTAAGCTATTCATCTTTTGGAAATAATAAGACTTTGTACAAGGGATTTTAAACAATGAGTTTTTGAAAACCTTTTAGTTGAGGTGGGTGAATATA... |
Task1_train_8595 | Here’s a variant in GNRHR (gonadotropin releasing hormone receptor) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | ATGCCTGAGGCAATTCCTAAGACAGAGAGATCCATAATGAGCACACAAGAAGAACCAAGCTGAGATACATTCGTTAACACGTGTGTGATAAAGCCCTTAGATTGTATCTGTACAAGTGTGTTATTTTTGATTTTAAATCCAGAAGTAAGAATTATCAGTTTAGGAATAAGTATATGATAGAGACTTAGAGGACACTGGTTTTGTTTCAACTTATCTACATCCCTGTGTTATCTACAAGAACTATAAAATCTTGGAATGGGTTTATGTGCCAACTTGAGCATTTTAGCACACTACAGAATTTTAGCCTTGTCCAATTCAAC... | ATGCCTGAGGCAATTCCTAAGACAGAGAGATCCATAATGAGCACACAAGAAGAACCAAGCTGAGATACATTCGTTAACACGTGTGTGATAAAGCCCTTAGATTGTATCTGTACAAGTGTGTTATTTTTGATTTTAAATCCAGAAGTAAGAATTATCAGTTTAGGAATAAGTATATGATAGAGACTTAGAGGACACTGGTTTTGTTTCAACTTATCTACATCCCTGTGTTATCTACAAGAACTATAAAATCTTGGAATGGGTTTATGTGCCAACTTGAGCATTTTAGCACACTACAGAATTTTAGCCTTGTCCAATTCAAC... |
Task1_train_8596 | An alteration has been detected in GNRHR (gonadotropin releasing hormone receptor) on Chromosome 4. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | GTGTTATTTTTGATTTTAAATCCAGAAGTAAGAATTATCAGTTTAGGAATAAGTATATGATAGAGACTTAGAGGACACTGGTTTTGTTTCAACTTATCTACATCCCTGTGTTATCTACAAGAACTATAAAATCTTGGAATGGGTTTATGTGCCAACTTGAGCATTTTAGCACACTACAGAATTTTAGCCTTGTCCAATTCAACTGTAGAACTGGGCCATGAATTGGTTAATTAAAGGTATGAGTTTAATGGAAAAGAAGCTATGAATGAAAGAGTGAGTAGACAGAGGGAGTTCAATTGAGACAGAATTGGAAAGTAAGG... | GTGTTATTTTTGATTTTAAATCCAGAAGTAAGAATTATCAGTTTAGGAATAAGTATATGATAGAGACTTAGAGGACACTGGTTTTGTTTCAACTTATCTACATCCCTGTGTTATCTACAAGAACTATAAAATCTTGGAATGGGTTTATGTGCCAACTTGAGCATTTTAGCACACTACAGAATTTTAGCCTTGTCCAATTCAACTGTAGAACTGGGCCATGAATTGGTTAATTAAAGGTATGAGTTTAATGGAAAAGAAGCTATGAATGAAAGAGTGAGTAGACAGAGGGAGTTCAATTGAGACAGAATTGGAAAGTAAGG... |
Task1_train_8597 | A variant found in Chromosome 4 affects GNRHR (gonadotropin releasing hormone receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TTTTTGATTTTAAATCCAGAAGTAAGAATTATCAGTTTAGGAATAAGTATATGATAGAGACTTAGAGGACACTGGTTTTGTTTCAACTTATCTACATCCCTGTGTTATCTACAAGAACTATAAAATCTTGGAATGGGTTTATGTGCCAACTTGAGCATTTTAGCACACTACAGAATTTTAGCCTTGTCCAATTCAACTGTAGAACTGGGCCATGAATTGGTTAATTAAAGGTATGAGTTTAATGGAAAAGAAGCTATGAATGAAAGAGTGAGTAGACAGAGGGAGTTCAATTGAGACAGAATTGGAAAGTAAGGTAGGAT... | TTTTTGATTTTAAATCCAGAAGTAAGAATTATCAGTTTAGGAATAAGTATATGATAGAGACTTAGAGGACACTGGTTTTGTTTCAACTTATCTACATCCCTGTGTTATCTACAAGAACTATAAAATCTTGGAATGGGTTTATGTGCCAACTTGAGCATTTTAGCACACTACAGAATTTTAGCCTTGTCCAATTCAACTGTAGAACTGGGCCATGAATTGGTTAATTAAAGGTATGAGTTTAATGGAAAAGAAGCTATGAATGAAAGAGTGAGTAGACAGAGGGAGTTCAATTGAGACAGAATTGGAAAGTAAGGTAGGAT... |
Task1_train_8598 | Gene GNRHR (gonadotropin releasing hormone receptor) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | ATCAGTTTAGGAATAAGTATATGATAGAGACTTAGAGGACACTGGTTTTGTTTCAACTTATCTACATCCCTGTGTTATCTACAAGAACTATAAAATCTTGGAATGGGTTTATGTGCCAACTTGAGCATTTTAGCACACTACAGAATTTTAGCCTTGTCCAATTCAACTGTAGAACTGGGCCATGAATTGGTTAATTAAAGGTATGAGTTTAATGGAAAAGAAGCTATGAATGAAAGAGTGAGTAGACAGAGGGAGTTCAATTGAGACAGAATTGGAAAGTAAGGTAGGATATGAAAAAAACAACAACACAACACTATAAA... | ATCAGTTTAGGAATAAGTATATGATAGAGACTTAGAGGACACTGGTTTTGTTTCAACTTATCTACATCCCTGTGTTATCTACAAGAACTATAAAATCTTGGAATGGGTTTATGTGCCAACTTGAGCATTTTAGCACACTACAGAATTTTAGCCTTGTCCAATTCAACTGTAGAACTGGGCCATGAATTGGTTAATTAAAGGTATGAGTTTAATGGAAAAGAAGCTATGAATGAAAGAGTGAGTAGACAGAGGGAGTTCAATTGAGACAGAATTGGAAAGTAAGGTAGGATATGAAAAAAACAACAACACAACACTATAAA... |
Task1_train_8599 | A variant was discovered on Chromosome 4, affecting GNRHR (gonadotropin releasing hormone receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypogonadotropic hypogonadism 7 with or without anosmia | TTAAAGGTAAAAAGGTGCAATTTTGAAGTGCTCAAAATCTGTTCTTGTATTTCATAATCGAGAACTTCTGTGTCAAGTAAGAAATACTCTTCACACACTATATTTTTTTTGAGGGAAACAGATAGTGCTATTCAGAAATAGTCATTCTGAAATTTCTTATTAATTGGTCACCAAAGGGTGGACATATAGAGGAGAACATTTACATGCATGGTGTTTTAATTATAAAATTAATTTTTATCTAGAAATATTAAAGTAATTTATTAAATACAGACTGATTATGGATTTTTAGCAGACAAAACCAATTACTGTTTACTCTGTGC... | TTAAAGGTAAAAAGGTGCAATTTTGAAGTGCTCAAAATCTGTTCTTGTATTTCATAATCGAGAACTTCTGTGTCAAGTAAGAAATACTCTTCACACACTATATTTTTTTTGAGGGAAACAGATAGTGCTATTCAGAAATAGTCATTCTGAAATTTCTTATTAATTGGTCACCAAAGGGTGGACATATAGAGGAGAACATTTACATGCATGGTGTTTTAATTATAAAATTAATTTTTATCTAGAAATATTAAAGTAATTTATTAAATACAGACTGATTATGGATTTTTAGCAGACAAAACCAATTACTGTTTACTCTGTGC... |
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