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_11300 | This alteration occurs within gene YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Constipation | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... |
Task1_train_11301 | Here is a genetic alteration in YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Spasticity | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... |
Task1_train_11302 | Gene YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 56 | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... |
Task1_train_11303 | The gene YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Inborn genetic diseases | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... |
Task1_train_11304 | This alteration occurs within gene ZP3 (zona pellucida glycoprotein 3) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Empty follicle syndrome | CCCAGGTATACAACCTGTGCAGTTCTGTGGGGCCCAGTGCTTAATGGAATGCCCTCTTGCCCTGAAATGGTAATAACTTTTGAATAAGGGGCCCCACGAGCTATGCTGGTTCTGTCTGTGCTGGGGCACTTGCTAATAAGGTCTAGGACTATTCCCTGAAGATCGAGTTTGGTCAGGGCCAGGCAGCCACCTGAGCTCTTGGGCAACTTCGACCTCCTAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGATGGACTACAGGCACATGCCACCGTGCCCAGCCAAGTTATGTTTTTGTAGAGATGGGGT... | CCCAGGTATACAACCTGTGCAGTTCTGTGGGGCCCAGTGCTTAATGGAATGCCCTCTTGCCCTGAAATGGTAATAACTTTTGAATAAGGGGCCCCACGAGCTATGCTGGTTCTGTCTGTGCTGGGGCACTTGCTAATAAGGTCTAGGACTATTCCCTGAAGATCGAGTTTGGTCAGGGCCAGGCAGCCACCTGAGCTCTTGGGCAACTTCGACCTCCTAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGATGGACTACAGGCACATGCCACCGTGCCCAGCCAAGTTATGTTTTTGTAGAGATGGGGT... |
Task1_train_11305 | A variant was discovered on Chromosome 7, affecting ZP3 (zona pellucida glycoprotein 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Oocyte maturation defect 3 | CCCAGGTATACAACCTGTGCAGTTCTGTGGGGCCCAGTGCTTAATGGAATGCCCTCTTGCCCTGAAATGGTAATAACTTTTGAATAAGGGGCCCCACGAGCTATGCTGGTTCTGTCTGTGCTGGGGCACTTGCTAATAAGGTCTAGGACTATTCCCTGAAGATCGAGTTTGGTCAGGGCCAGGCAGCCACCTGAGCTCTTGGGCAACTTCGACCTCCTAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGATGGACTACAGGCACATGCCACCGTGCCCAGCCAAGTTATGTTTTTGTAGAGATGGGGT... | CCCAGGTATACAACCTGTGCAGTTCTGTGGGGCCCAGTGCTTAATGGAATGCCCTCTTGCCCTGAAATGGTAATAACTTTTGAATAAGGGGCCCCACGAGCTATGCTGGTTCTGTCTGTGCTGGGGCACTTGCTAATAAGGTCTAGGACTATTCCCTGAAGATCGAGTTTGGTCAGGGCCAGGCAGCCACCTGAGCTCTTGGGCAACTTCGACCTCCTAGGCTCAAGCCATCCTCCTGCCTCAGCCTCCTGAATAGCTGGGATGGACTACAGGCACATGCCACCGTGCCCAGCCAAGTTATGTTTTTGTAGAGATGGGGT... |
Task1_train_11306 | This mutation is located in gene ZP3 (zona pellucida glycoprotein 3) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Oocyte maturation defect 3 | AAAAAAAAGTCTTACTCTGCCGCCCAGGCTGGAGTGCAGTGGGGTGCCATCATAGTTCACTGCAGCCTTGACCTCCTGGGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGTATGTACTACTATGCCCAGCTATCTTTTCTTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAACTCCACCTCCGAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAAAGGCGCCCGCCACCATGCCCGGATAATTT... | AAAAAAAAGTCTTACTCTGCCGCCCAGGCTGGAGTGCAGTGGGGTGCCATCATAGTTCACTGCAGCCTTGACCTCCTGGGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGTATGTACTACTATGCCCAGCTATCTTTTCTTTTCTTTTCTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAAACTCCACCTCCGAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAAAGGCGCCCGCCACCATGCCCGGATAATTT... |
Task1_train_11307 | This alteration in PTPN12 (protein tyrosine phosphatase non-receptor type 12) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Carcinoma of colon | ATTCTCATCCGTTTCCCTTAGGTACCCATTTCCCTTCCCCACAGACACATACTTTGTTAATAGTTTTTCTTCCAGAGATGATATATGCATATGTACAAGCAAATGCAAATGTTTTTATTTCTTTTTAACACCAGTAGTAATATATTACATATATACATACTGCACTGTGTATATAATGTACACTATTGTTTCCTGCTTTTTACATTTATACTTAATATGTATTTTTCAGATACTGTCATCTTACTATATATAAAAAGCTAACTCATTTGTTTTTCAGCTCTCTCATATTTGATGGTATGAATAAAACAAATTTAGCCAGT... | ATTCTCATCCGTTTCCCTTAGGTACCCATTTCCCTTCCCCACAGACACATACTTTGTTAATAGTTTTTCTTCCAGAGATGATATATGCATATGTACAAGCAAATGCAAATGTTTTTATTTCTTTTTAACACCAGTAGTAATATATTACATATATACATACTGCACTGTGTATATAATGTACACTATTGTTTCCTGCTTTTTACATTTATACTTAATATGTATTTTTCAGATACTGTCATCTTACTATATATAAAAAGCTAACTCATTTGTTTTTCAGCTCTCTCATATTTGATGGTATGAATAAAACAAATTTAGCCAGT... |
Task1_train_11308 | This is a variant in GNAI1 (G protein subunit alpha i1), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | AGACCATGTCTCAAAGAAAAAAAAATTAAAATTATAAAATGAAAAATATGTTGCTTTAGTTTTACATTATTTTATTTCTAATAGTTGTGACCTTAAGATGGCACTAATGCGGCTGCTTTTTAGGAATGAAGAAAGTCTTAGAAACATTTTTCTCCATAGTGATTAGAGGGCATCGTGATCTATGAGTTCTTGACTGGGGATGCTAAGATGCAGTCAAGTTGCCCATTAGGACTGACTAGCCACCAATTCACACTTTAAATTTGTAATCATTTAAAACAATCAGAATTTTTCACAGTGCCTGCTTTTCTTCTTTGTCTTAT... | AGACCATGTCTCAAAGAAAAAAAAATTAAAATTATAAAATGAAAAATATGTTGCTTTAGTTTTACATTATTTTATTTCTAATAGTTGTGACCTTAAGATGGCACTAATGCGGCTGCTTTTTAGGAATGAAGAAAGTCTTAGAAACATTTTTCTCCATAGTGATTAGAGGGCATCGTGATCTATGAGTTCTTGACTGGGGATGCTAAGATGCAGTCAAGTTGCCCATTAGGACTGACTAGCCACCAATTCACACTTTAAATTTGTAATCATTTAAAACAATCAGAATTTTTCACAGTGCCTGCTTTTCTTCTTTGTCTTAT... |
Task1_train_11309 | Gene GNAI1 (G protein subunit alpha i1) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | TTCTCTAAGACAACAGAAGGTTCTTTCCAGCTTTATTTCCATCTCAGCTCTTAGCAGAATTGTCTTTAATCTCCCTATTTCTACCAGCAATCTCTTCAAGATAGTGTAGTTTTATTTTCTGTCAAATGCTTAAATATTCTTCTACCTCCTACATATTACCCAATTCCAAAGTCACTTCCATGTTTTTAGGTATTTGTTAGAGTAGCACCTCATTCTCTGCACTAAAGTTGTATCATCAGTATTCACCAGAAAAGCAGATCCAGTAGGTTATGTTTATTTCAAGGAATTGGTTTATGGGATTATGAAGGCTAACAAGTCCG... | TTCTCTAAGACAACAGAAGGTTCTTTCCAGCTTTATTTCCATCTCAGCTCTTAGCAGAATTGTCTTTAATCTCCCTATTTCTACCAGCAATCTCTTCAAGATAGTGTAGTTTTATTTTCTGTCAAATGCTTAAATATTCTTCTACCTCCTACATATTACCCAATTCCAAAGTCACTTCCATGTTTTTAGGTATTTGTTAGAGTAGCACCTCATTCTCTGCACTAAAGTTGTATCATCAGTATTCACCAGAAAAGCAGATCCAGTAGGTTATGTTTATTTCAAGGAATTGGTTTATGGGATTATGAAGGCTAACAAGTCCG... |
Task1_train_11310 | A sequence alteration has been identified in GNAI1 (G protein subunit alpha i1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Inborn genetic diseases | TCCCTTCAATCAAAAATTTTAAAAACTAGCAGGTTTTTTTCCCCTTTTGAGAAGTCCAGTTTGTGACATTTTTTTCTCCCATAAAGTCCTTCTCTCCTTCCTTTTCATCAGACATTTCCACAACTATTCAGAGCTTTTTTTGTTAGCATTAAAGAACTTCTCAGAGCTTTTTGAACATTTAATGTGATGTTAACTCATTTCTCCTCTTAACAGAATGTTTGATGTGGGAGGTCAGAGATCTGAGCGGAAGAAGTGGATTCATTGCTTCGAAGGAGTGACGGCGATCATCTTCTGTGTAGCACTGAGTGACTACGACCTGG... | TCCCTTCAATCAAAAATTTTAAAAACTAGCAGGTTTTTTTCCCCTTTTGAGAAGTCCAGTTTGTGACATTTTTTTCTCCCATAAAGTCCTTCTCTCCTTCCTTTTCATCAGACATTTCCACAACTATTCAGAGCTTTTTTTGTTAGCATTAAAGAACTTCTCAGAGCTTTTTGAACATTTAATGTGATGTTAACTCATTTCTCCTCTTAACAGAATGTTTGATGTGGGAGGTCAGAGATCTGAGCGGAAGAAGTGGATTCATTGCTTCGAAGGAGTGACGGCGATCATCTTCTGTGTAGCACTGAGTGACTACGACCTGG... |
Task1_train_11311 | This alteration in GNAI1 (G protein subunit alpha i1) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | CAATCAAAAATTTTAAAAACTAGCAGGTTTTTTTCCCCTTTTGAGAAGTCCAGTTTGTGACATTTTTTTCTCCCATAAAGTCCTTCTCTCCTTCCTTTTCATCAGACATTTCCACAACTATTCAGAGCTTTTTTTGTTAGCATTAAAGAACTTCTCAGAGCTTTTTGAACATTTAATGTGATGTTAACTCATTTCTCCTCTTAACAGAATGTTTGATGTGGGAGGTCAGAGATCTGAGCGGAAGAAGTGGATTCATTGCTTCGAAGGAGTGACGGCGATCATCTTCTGTGTAGCACTGAGTGACTACGACCTGGTTCTAG... | CAATCAAAAATTTTAAAAACTAGCAGGTTTTTTTCCCCTTTTGAGAAGTCCAGTTTGTGACATTTTTTTCTCCCATAAAGTCCTTCTCTCCTTCCTTTTCATCAGACATTTCCACAACTATTCAGAGCTTTTTTTGTTAGCATTAAAGAACTTCTCAGAGCTTTTTGAACATTTAATGTGATGTTAACTCATTTCTCCTCTTAACAGAATGTTTGATGTGGGAGGTCAGAGATCTGAGCGGAAGAAGTGGATTCATTGCTTCGAAGGAGTGACGGCGATCATCTTCTGTGTAGCACTGAGTGACTACGACCTGGTTCTAG... |
Task1_train_11312 | A mutation in GNAI1 (G protein subunit alpha i1), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | AACAAGATGCTGTTGATTGCTTTAAAATTTTGGAGAACGAAACTTATGATTTAATAAAATTTGATTTTTAAAAGTATGTGATTTCTAGTGATATAAAAGAGTTAAAATGTAAACTTAAAGACGATAGCTTTAGTACCTTTTTATCCCTAATAAAAATCTCATAATCTATGCTGTCATAGCACATTACACAACATTCCTATGGGCATTTGTCACATTGTATTACACTGGATTCTATAAGATATAAAAGGAGTATGAGGCTTGTGGGGTATGATATTTACTCTTGAAGAGTTCACATTCTAGTTTAGGAGATTCAGCACTGA... | AACAAGATGCTGTTGATTGCTTTAAAATTTTGGAGAACGAAACTTATGATTTAATAAAATTTGATTTTTAAAAGTATGTGATTTCTAGTGATATAAAAGAGTTAAAATGTAAACTTAAAGACGATAGCTTTAGTACCTTTTTATCCCTAATAAAAATCTCATAATCTATGCTGTCATAGCACATTACACAACATTCCTATGGGCATTTGTCACATTGTATTACACTGGATTCTATAAGATATAAAAGGAGTATGAGGCTTGTGGGGTATGATATTTACTCTTGAAGAGTTCACATTCTAGTTTAGGAGATTCAGCACTGA... |
Task1_train_11313 | Chromosome 7 houses a mutation in gene CD36 (CD36 molecule (CD36 blood group)). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Platelet-type bleeding disorder 10 | AATTTTTGTATTTTTAGTAGAGACGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGTGATCCGCCCCCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACACCTGGCCAAGGCTTTGCAGGGTTTTGAGCCATAGGAGTGGGCAAATAAGCTATTTTCTAAGTAAAGCATTTCTGGAAATAAATTTTCAAGTCCTCAATACTACCAATGCTAGTAGTTGTATAAGCGGAATACTTAGTCCTTAGATGCAGAGATAAATATACTGTGTTAATCCTAGTAAAGGATTCTTTAAGGAGAA... | AATTTTTGTATTTTTAGTAGAGACGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTTGTGATCCGCCCCCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACACCTGGCCAAGGCTTTGCAGGGTTTTGAGCCATAGGAGTGGGCAAATAAGCTATTTTCTAAGTAAAGCATTTCTGGAAATAAATTTTCAAGTCCTCAATACTACCAATGCTAGTAGTTGTATAAGCGGAATACTTAGTCCTTAGATGCAGAGATAAATATACTGTGTTAATCCTAGTAAAGGATTCTTTAAGGAGAA... |
Task1_train_11314 | A variant affecting Chromosome 7, within the gene CD36 (CD36 molecule (CD36 blood group)), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Platelet-type bleeding disorder 10 | AAGTAATTAGGGCAGAAGAAAGAATGGTGGCAGAAAATTTTAGTGCTGATTTTGTATTTTGGGAAGATCCCACTTGTGTTTCAGTATTACAAAATTTAGTTAAAACCACACCAGTATTTCCTTGTGGCTGCTTTTAGATTTAGGGTGAAATGAAAATAATTCCGAGAACACATTAAACATCCTGTTATTCATCTGTCCTAACTTTTTTCACTAGAAAATGGTACAGGTAAATGTATTTTCAGTATGTATCTAAAGCTAGAGTTAAACATAAAATTTGGAGACTAGCTTATCCTGTACATATTTATCATACTAACGTGGGT... | AAGTAATTAGGGCAGAAGAAAGAATGGTGGCAGAAAATTTTAGTGCTGATTTTGTATTTTGGGAAGATCCCACTTGTGTTTCAGTATTACAAAATTTAGTTAAAACCACACCAGTATTTCCTTGTGGCTGCTTTTAGATTTAGGGTGAAATGAAAATAATTCCGAGAACACATTAAACATCCTGTTATTCATCTGTCCTAACTTTTTTCACTAGAAAATGGTACAGGTAAATGTATTTTCAGTATGTATCTAAAGCTAGAGTTAAACATAAAATTTGGAGACTAGCTTATCCTGTACATATTTATCATACTAACGTGGGT... |
Task1_train_11315 | Gene CACNA2D1 (calcium voltage-gated channel auxiliary subunit alpha2delta 1), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy 110 | CACATGAATTCTGCTAAATATCTAAATATGTTTTCCAAAATGAAGTGAACAAATGTCAACACATTTGAAAATATATGATTAGCATCAAAAAATTAAAGCCATCATCCCTCAATTAGCATTTGAAGTTAAAGAATTACAGAATATGTTTTATTAGTAATTTTTAAAGTTAACTGCTATTTGTTAAAAGAGCCATTTTTGAAAAGGGTTCATAATACAACTTATCTTTCCATCCATCTCTTGATCCCCATGTTTTCTCTCCCATTTTGCATGCATTCTTTCCTTCCTCTCCTCTTCTTGTTTTTCTCTTGTAACCCTTTTCT... | CACATGAATTCTGCTAAATATCTAAATATGTTTTCCAAAATGAAGTGAACAAATGTCAACACATTTGAAAATATATGATTAGCATCAAAAAATTAAAGCCATCATCCCTCAATTAGCATTTGAAGTTAAAGAATTACAGAATATGTTTTATTAGTAATTTTTAAAGTTAACTGCTATTTGTTAAAAGAGCCATTTTTGAAAAGGGTTCATAATACAACTTATCTTTCCATCCATCTCTTGATCCCCATGTTTTCTCTCCCATTTTGCATGCATTCTTTCCTTCCTCTCCTCTTCTTGTTTTTCTCTTGTAACCCTTTTCT... |
Task1_train_11316 | This sequence change occurs on Chromosome 7, altering SEMA3D (semaphorin 3D). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Progressive sensorineural hearing impairment | TTTAGTAGGCATACAAGTGTCTGTGTCTGGTACGTAAGGGTGAGTTCAGAATTGGACTATGAATTTGGGAGTGAAATAGCCTCTGATAGTGTTGAAATAGACAGTATTAGGGAGTCAGTAGACAGAGAATGGAAAAGTGGCTGGGGACACTCCAATATTTAAAAGGTGAGATGAAAAGGAAAGTTAAGAACACTCAGAAGGCAGTCTGAAAGGTAAGAGGTTAACCAGAAGGATATGGTACAAGGGCACATAGGTATGCTGGAATATCATTTCTCTGAAAACAAAACAAAACAACAAATAACGTAATTTGTAGCGCTTGC... | TTTAGTAGGCATACAAGTGTCTGTGTCTGGTACGTAAGGGTGAGTTCAGAATTGGACTATGAATTTGGGAGTGAAATAGCCTCTGATAGTGTTGAAATAGACAGTATTAGGGAGTCAGTAGACAGAGAATGGAAAAGTGGCTGGGGACACTCCAATATTTAAAAGGTGAGATGAAAAGGAAAGTTAAGAACACTCAGAAGGCAGTCTGAAAGGTAAGAGGTTAACCAGAAGGATATGGTACAAGGGCACATAGGTATGCTGGAATATCATTTCTCTGAAAACAAAACAAAACAACAAATAACGTAATTTGTAGCGCTTGC... |
Task1_train_11317 | Consider a variant on Chromosome 7 in gene ABCB4 (ATP binding cassette subfamily B member 4). Determine its clinical classification and disease relevance. | Pathogenic; not provided | AGGGCTAGGCAACGAGTTCTTAGACTTGACACTGAAAGCATAATCCATAAAAGGAAGAATTGGTAAATTGGACCTCATCAAAAGTAAAACTTTTGCTCTGCAAAGACCTTCTTATAGGATGAATAAACAAGCTACAGACTGGGAGAAAACATTTACAAACTACATATCCAACAGTAATTACAATATGTTAAACAAACAAACAAAAAAAACTTCTGAAAACTCAGCAGTAAAAGATAAAAATCCAATTAGAATATGGGCAAACAACATGGAGACATTTCACCAAGAGGATATATAGATGGTAAATAAGCATATAAAAAACT... | AGGGCTAGGCAACGAGTTCTTAGACTTGACACTGAAAGCATAATCCATAAAAGGAAGAATTGGTAAATTGGACCTCATCAAAAGTAAAACTTTTGCTCTGCAAAGACCTTCTTATAGGATGAATAAACAAGCTACAGACTGGGAGAAAACATTTACAAACTACATATCCAACAGTAATTACAATATGTTAAACAAACAAACAAAAAAAACTTCTGAAAACTCAGCAGTAAAAGATAAAAATCCAATTAGAATATGGGCAAACAACATGGAGACATTTCACCAAGAGGATATATAGATGGTAAATAAGCATATAAAAAACT... |
Task1_train_11318 | This variant affects the gene ABCB4 (ATP binding cassette subfamily B member 4) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | ATAAGCTTTTACTAGAAATAGCTTTTTATTTACAATTAAAATAACTATGCTATCAGTTATTATGCTTAGTATCTGGGTGATGACATGGTCTGTACACCAAACCCCCATGACATGAGTTTGCCTGTATTAACGAACATGCATATGTACCCCTGAACCTAAAATAAAAGTTAAAATAACTATTGACAGCACTCTGGAAAAAAAAGTCACCTTAAACTAAAGTTCTATTTTCTAATTATATGCTCTTTAAAGATGGATATTGATTATGACAACTTTTAGGAAGGGCTAAAGATCCTGAGATCTACAACTTCACAAAGCAATTT... | ATAAGCTTTTACTAGAAATAGCTTTTTATTTACAATTAAAATAACTATGCTATCAGTTATTATGCTTAGTATCTGGGTGATGACATGGTCTGTACACCAAACCCCCATGACATGAGTTTGCCTGTATTAACGAACATGCATATGTACCCCTGAACCTAAAATAAAAGTTAAAATAACTATTGACAGCACTCTGGAAAAAAAAGTCACCTTAAACTAAAGTTCTATTTTCTAATTATATGCTCTTTAAAGATGGATATTGATTATGACAACTTTTAGGAAGGGCTAAAGATCCTGAGATCTACAACTTCACAAAGCAATTT... |
Task1_train_11319 | Given a variant located on Chromosome 7 and affecting ABCB4 (ATP binding cassette subfamily B member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cholestasis, intrahepatic, of pregnancy, 3 | GTCTCCCAATCCAAGTCCTGATGGAAGCAGAGGTCATTCTTACAAGAGCTTATGGCAATAGGACAGCCAAGTGGTTATTTCACTTGAGGATTCAACATGTCATTATGGGCAAAATCACAGACCCTTGGTAACCACTCATGAAATTAAAACTAAAATGGATTTAAAGTAACATTTTATGCATTCCTAACTAGTGAAATGACAAAGACCCTTTATGGTGGCTAGGCCATATGGTAGCATTCGGCAGAGACACTATCATTGATTCCCTCCACTGTAGAACACCCTCTGGCACATGCAAGCCTGAGTTATAAAACTTTTCGTCA... | GTCTCCCAATCCAAGTCCTGATGGAAGCAGAGGTCATTCTTACAAGAGCTTATGGCAATAGGACAGCCAAGTGGTTATTTCACTTGAGGATTCAACATGTCATTATGGGCAAAATCACAGACCCTTGGTAACCACTCATGAAATTAAAACTAAAATGGATTTAAAGTAACATTTTATGCATTCCTAACTAGTGAAATGACAAAGACCCTTTATGGTGGCTAGGCCATATGGTAGCATTCGGCAGAGACACTATCATTGATTCCCTCCACTGTAGAACACCCTCTGGCACATGCAAGCCTGAGTTATAAAACTTTTCGTCA... |
Task1_train_11320 | Located on Chromosome 7, this mutation impacts ABCB4 (ATP binding cassette subfamily B member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Low phospholipid associated cholelithiasis | GTCTCCCAATCCAAGTCCTGATGGAAGCAGAGGTCATTCTTACAAGAGCTTATGGCAATAGGACAGCCAAGTGGTTATTTCACTTGAGGATTCAACATGTCATTATGGGCAAAATCACAGACCCTTGGTAACCACTCATGAAATTAAAACTAAAATGGATTTAAAGTAACATTTTATGCATTCCTAACTAGTGAAATGACAAAGACCCTTTATGGTGGCTAGGCCATATGGTAGCATTCGGCAGAGACACTATCATTGATTCCCTCCACTGTAGAACACCCTCTGGCACATGCAAGCCTGAGTTATAAAACTTTTCGTCA... | GTCTCCCAATCCAAGTCCTGATGGAAGCAGAGGTCATTCTTACAAGAGCTTATGGCAATAGGACAGCCAAGTGGTTATTTCACTTGAGGATTCAACATGTCATTATGGGCAAAATCACAGACCCTTGGTAACCACTCATGAAATTAAAACTAAAATGGATTTAAAGTAACATTTTATGCATTCCTAACTAGTGAAATGACAAAGACCCTTTATGGTGGCTAGGCCATATGGTAGCATTCGGCAGAGACACTATCATTGATTCCCTCCACTGTAGAACACCCTCTGGCACATGCAAGCCTGAGTTATAAAACTTTTCGTCA... |
Task1_train_11321 | This is a variant in ABCB4 (ATP binding cassette subfamily B member 4), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; not specified | TTAGTTAACGTGCCCAAGGACACAGCTAGAAAAGAACAGAGCCAGGACTCCAATCCCAGCCTAGCATCAAAGCCTGTGCTCTTAACCATCACCCTAAGCTGCTAATGGCTTTTCCTGGAGACTTTAAAAAATTATGAGTAGTTCATCAGCTATTTTTAAAGTAAATATAAAAAAGGTTATCAACTGAGGAGTGTGCTATGATCCTATAGAACACGAAGAAACAGCTAAAATTGAATGAATTGACTTGTCCAAATACGTACTAAAACTTGCAAGATCACAGTTTTTCTGGCAGAGGTCATATTATGAAAAACAATACATAC... | TTAGTTAACGTGCCCAAGGACACAGCTAGAAAAGAACAGAGCCAGGACTCCAATCCCAGCCTAGCATCAAAGCCTGTGCTCTTAACCATCACCCTAAGCTGCTAATGGCTTTTCCTGGAGACTTTAAAAAATTATGAGTAGTTCATCAGCTATTTTTAAAGTAAATATAAAAAAGGTTATCAACTGAGGAGTGTGCTATGATCCTATAGAACACGAAGAAACAGCTAAAATTGAATGAATTGACTTGTCCAAATACGTACTAAAACTTGCAAGATCACAGTTTTTCTGGCAGAGGTCATATTATGAAAAACAATACATAC... |
Task1_train_11322 | A variant found in Chromosome 7 affects ABCB4 (ATP binding cassette subfamily B member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Progressive familial intrahepatic cholestasis type 3 | GCATAGTGGTGCAACCATTGGTGCAACAATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTATGGGTGCACACCACCAGGCCTGGCTATTTTAAAAAATATTTTGTAGAGACAGATTCTCATTAGTTGCCCAGGATGATCTCAAACTCCTGGCCTCAAGTGAACCTCCCACCTCAATCTCCCAAAGTGCTGAGATCACAAGCATTAGCCACCATGTCAGGCCTTTATTGCTTTCTTTCATCATAGTTTTATTGGTTTTTATTGGAAAGAGGCTTAAGGAAC... | GCATAGTGGTGCAACCATTGGTGCAACAATAGCTCACTGCAGCCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTATGGGTGCACACCACCAGGCCTGGCTATTTTAAAAAATATTTTGTAGAGACAGATTCTCATTAGTTGCCCAGGATGATCTCAAACTCCTGGCCTCAAGTGAACCTCCCACCTCAATCTCCCAAAGTGCTGAGATCACAAGCATTAGCCACCATGTCAGGCCTTTATTGCTTTCTTTCATCATAGTTTTATTGGTTTTTATTGGAAAGAGGCTTAAGGAAC... |
Task1_train_11323 | The following genetic variant occurs in ABCB1 (ATP binding cassette subfamily B member 1) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; COLCHICINE RESISTANCE | GTTTTAAAAAGTTAAAATAAAATAAACCTGCCTTACTCTAGCCGGCAGTTGTTCCATTGAAGTTTAGCATGATAGTATTGGTCTACTTTTGTGAGCTGTGGTTCCAGGAGCGGTTTAATATTCAGAGTGTTTGTAGTATTATTTTGGTCGGCTTGATTTATGTGAAGCTTCTGGGGCTCCCACTGGCCCCTGCTTCTGCTGCTTGAGGGAGTGAAAGTGGTTTTTCAAGATCAGACTGCCAGGTCGGGAAGAGTGTGGTGGTTTCCTGTACCAATGCCCTCTAGTGGCCCAGTGTCTCTGGGCGCTGGGAAGACAGTCTT... | GTTTTAAAAAGTTAAAATAAAATAAACCTGCCTTACTCTAGCCGGCAGTTGTTCCATTGAAGTTTAGCATGATAGTATTGGTCTACTTTTGTGAGCTGTGGTTCCAGGAGCGGTTTAATATTCAGAGTGTTTGTAGTATTATTTTGGTCGGCTTGATTTATGTGAAGCTTCTGGGGCTCCCACTGGCCCCTGCTTCTGCTGCTTGAGGGAGTGAAAGTGGTTTTTCAAGATCAGACTGCCAGGTCGGGAAGAGTGTGGTGGTTTCCTGTACCAATGCCCTCTAGTGGCCCAGTGTCTCTGGGCGCTGGGAAGACAGTCTT... |
Task1_train_11324 | An alteration has been detected in ADAM22 (ADAM metallopeptidase domain 22) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Developmental and epileptic encephalopathy, 61 | AAAATTTACAGATTTAATTTTATTTTGTATTATCCAAAAGACGGATTTAATTATATACCAATATTGAATTTTTCAAGAATGTCACTGGTGAAATTTGGACTCAGATATACATTTCCAAAACCCAAAAGCTGTGATTATTTCCTGACTTCTAGTATTCCCTGTAAGACCTAATCAAACATGGATTTTTGTTTCTTACTACTTTTTCCCAAATGCATATTCAGTGCTGGCTACAGTGTGTTCAGCCTCTTCTAAAGAAATTGCTTAGAAATTACTTATTTTCAGCGATATTGTGACATTTTTCTCTGGTTCTTTGTCAGTGA... | AAAATTTACAGATTTAATTTTATTTTGTATTATCCAAAAGACGGATTTAATTATATACCAATATTGAATTTTTCAAGAATGTCACTGGTGAAATTTGGACTCAGATATACATTTCCAAAACCCAAAAGCTGTGATTATTTCCTGACTTCTAGTATTCCCTGTAAGACCTAATCAAACATGGATTTTTGTTTCTTACTACTTTTTCCCAAATGCATATTCAGTGCTGGCTACAGTGTGTTCAGCCTCTTCTAAAGAAATTGCTTAGAAATTACTTATTTTCAGCGATATTGTGACATTTTTCTCTGGTTCTTTGTCAGTGA... |
Task1_train_11325 | Gene ADAM22 (ADAM metallopeptidase domain 22) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 61 | GTGGCAGAATCCTACCAAATACACAGCCCCTGTCTCTGGGCTGTCTCTGTGGGCTGTGGAGAGTGGAACAAGCAGATCTTCCTATCAGCAGCCCCTCTGTTACCACCACATAGACGTGGGCCAAGGCATGCCTAGTGCTGAAAGTGATGTTTGGCAATTGCTCATTTTTTCTCACTGGAGTAATCATGACATTCAGGTTTTTCCCAATGTTGTTCATTTGTCCCTCCCTTCTTTCTCCTGTCACATATTATTTTTAATCTTTATAAAACAATATTGAGGAAACTTCAGCTCTCTGAGGCCAGAGTCTAATCCCTTTAGCC... | GTGGCAGAATCCTACCAAATACACAGCCCCTGTCTCTGGGCTGTCTCTGTGGGCTGTGGAGAGTGGAACAAGCAGATCTTCCTATCAGCAGCCCCTCTGTTACCACCACATAGACGTGGGCCAAGGCATGCCTAGTGCTGAAAGTGATGTTTGGCAATTGCTCATTTTTTCTCACTGGAGTAATCATGACATTCAGGTTTTTCCCAATGTTGTTCATTTGTCCCTCCCTTCTTTCTCCTGTCACATATTATTTTTAATCTTTATAAAACAATATTGAGGAAACTTCAGCTCTCTGAGGCCAGAGTCTAATCCCTTTAGCC... |
Task1_train_11326 | Here is a mutation in KRIT1 (KRIT1 ankyrin repeat containing) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cerebral cavernous malformation | AACCCCGCTAGCACGCTGATCTCAGACTTCCAGTTTCTAGAACTGTGAGAAATAAAACTTCTGTTGTTCATTAGCCAATCAGTCTATAGGGCTTTGTTATAGTGGCCTGAACTAGATAGGTATGTAATGAAAAGTTTCCCTCCTTACTTTTATTCCTAGTTACCTGGTTCCCTTCTCTAAAGGCTTCAAGAAATATTTTATGCATATACAAGCAATATGTATTTATGTAAAAATCATCCTCATTTCCTCCCATTTTAATAGCAAGAGTAGGCAGCATATTACATATTGTTCAGCACCTTGCTTTTTCATTAAATGTATCT... | AACCCCGCTAGCACGCTGATCTCAGACTTCCAGTTTCTAGAACTGTGAGAAATAAAACTTCTGTTGTTCATTAGCCAATCAGTCTATAGGGCTTTGTTATAGTGGCCTGAACTAGATAGGTATGTAATGAAAAGTTTCCCTCCTTACTTTTATTCCTAGTTACCTGGTTCCCTTCTCTAAAGGCTTCAAGAAATATTTTATGCATATACAAGCAATATGTATTTATGTAAAAATCATCCTCATTTCCTCCCATTTTAATAGCAAGAGTAGGCAGCATATTACATATTGTTCAGCACCTTGCTTTTTCATTAAATGTATCT... |
Task1_train_11327 | A mutation in KRIT1 (KRIT1 ankyrin repeat containing), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cerebral cavernous malformation | ATTTTCGATTTATGAGTTTATTTCCAGTTGTAATTAGATGGAAAGGCCAGGTTGAGTTAGCAGAATAAAAAAGCTTGGAAACACCTATTTTACTTTTATGAGGAGGAAAATGAGTCTGTTATATATAAACTAACTTGCTGAGACTGAATGATGTGCAATGCTTTCATTTAAAAATATAAAATGTTGCTTAAGAGACCTAAGTATAGGGATATGTGACAATGAATAGATTAAAATTACGTGTAATCAGGCTGGGCGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGT... | ATTTTCGATTTATGAGTTTATTTCCAGTTGTAATTAGATGGAAAGGCCAGGTTGAGTTAGCAGAATAAAAAAGCTTGGAAACACCTATTTTACTTTTATGAGGAGGAAAATGAGTCTGTTATATATAAACTAACTTGCTGAGACTGAATGATGTGCAATGCTTTCATTTAAAAATATAAAATGTTGCTTAAGAGACCTAAGTATAGGGATATGTGACAATGAATAGATTAAAATTACGTGTAATCAGGCTGGGCGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGAGGTCAGGT... |
Task1_train_11328 | This variant impacts the gene KRIT1 (KRIT1 ankyrin repeat containing) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Cerebral cavernous malformation | TGTAATCTCTGCCTCCCTGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCGGTACCTCTTAAATTAGCCAAGGAAGCTTACTTTAAACAATAGGTGAAGAGCAACTTTCCCACAGAAATAATGTAAAAAACTTTATTATATCCTTTCT... | TGTAATCTCTGCCTCCCTGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCGGTACCTCTTAAATTAGCCAAGGAAGCTTACTTTAAACAATAGGTGAAGAGCAACTTTCCCACAGAAATAATGTAAAAAACTTTATTATATCCTTTCT... |
Task1_train_11329 | A variant on Chromosome 7 in gene KRIT1 (KRIT1 ankyrin repeat containing) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cerebral cavernous malformation | TCTCTGCCTCCCTGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCGGTACCTCTTAAATTAGCCAAGGAAGCTTACTTTAAACAATAGGTGAAGAGCAACTTTCCCACAGAAATAATGTAAAAAACTTTATTATATCCTTTCTAGAAG... | TCTCTGCCTCCCTGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCCGGTACCTCTTAAATTAGCCAAGGAAGCTTACTTTAAACAATAGGTGAAGAGCAACTTTCCCACAGAAATAATGTAAAAAACTTTATTATATCCTTTCTAGAAG... |
Task1_train_11330 | This variant lies on Chromosome 7 and affects the gene GATAD1 (GATA zinc finger domain containing 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dilated cardiomyopathy 2B | TAAACAAAAGTATAGACATGGGGGAGGTGTAGGGCGATGTCCAAAGTATAATTTTTAAGAGTGTAAAGGGTTCCTAAGTAAGATTGCCAGATTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTATCCCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAGCCTCCACCTCCCGCGCTCAAGAGATTCTTCTGCCGCAGCCTCCAGGGTAGCTGGGATTACCCCAGAGCCCGCCACTGAGCCCGGCTAATTTTTGTATATTTATTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGATCTCGAACTCCTG... | TAAACAAAAGTATAGACATGGGGGAGGTGTAGGGCGATGTCCAAAGTATAATTTTTAAGAGTGTAAAGGGTTCCTAAGTAAGATTGCCAGATTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTATCCCCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAGCCTCCACCTCCCGCGCTCAAGAGATTCTTCTGCCGCAGCCTCCAGGGTAGCTGGGATTACCCCAGAGCCCGCCACTGAGCCCGGCTAATTTTTGTATATTTATTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTGATCTCGAACTCCTG... |
Task1_train_11331 | A genomic change on Chromosome 7 affects GATAD1, PEX1 (GATA zinc finger domain containing 1| peroxisomal biogenesis factor 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Zellweger spectrum disorders | CTCCCAGCCCTGTCTTGAAAATCTTAACAAGGAATGCAAATTACCAATTAGTGTAAGCAAGAAACAAGACTATTTTACTGAAGAACCAACCAACCAGGAAGAATATGTGGGGCTGGTTAGGAGAGAAATCACTGCAACTTTACACCAACATATAGCTTTATATTTCAGAACTGTATAATGATGACTGCACAAGATACCAAATCAGAAGAGGTTCCATTTCCAAGTTCTGATTCATAAGAGCTTCCAAAGTAGAGCCGGTACATATTGAATTTTGATTCATCTGGAAGGATCTCGGACATCTCTAAAGAAACAAGGGACTG... | CTCCCAGCCCTGTCTTGAAAATCTTAACAAGGAATGCAAATTACCAATTAGTGTAAGCAAGAAACAAGACTATTTTACTGAAGAACCAACCAACCAGGAAGAATATGTGGGGCTGGTTAGGAGAGAAATCACTGCAACTTTACACCAACATATAGCTTTATATTTCAGAACTGTATAATGATGACTGCACAAGATACCAAATCAGAAGAGGTTCCATTTCCAAGTTCTGATTCATAAGAGCTTCCAAAGTAGAGCCGGTACATATTGAATTTTGATTCATCTGGAAGGATCTCGGACATCTCTAAAGAAACAAGGGACTG... |
Task1_train_11332 | A mutation on Chromosome 7 affecting GATAD1, PEX1 (GATA zinc finger domain containing 1| peroxisomal biogenesis factor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Peroxisome biogenesis disorder 1A (Zellweger) | CTCCCAGCCCTGTCTTGAAAATCTTAACAAGGAATGCAAATTACCAATTAGTGTAAGCAAGAAACAAGACTATTTTACTGAAGAACCAACCAACCAGGAAGAATATGTGGGGCTGGTTAGGAGAGAAATCACTGCAACTTTACACCAACATATAGCTTTATATTTCAGAACTGTATAATGATGACTGCACAAGATACCAAATCAGAAGAGGTTCCATTTCCAAGTTCTGATTCATAAGAGCTTCCAAAGTAGAGCCGGTACATATTGAATTTTGATTCATCTGGAAGGATCTCGGACATCTCTAAAGAAACAAGGGACTG... | CTCCCAGCCCTGTCTTGAAAATCTTAACAAGGAATGCAAATTACCAATTAGTGTAAGCAAGAAACAAGACTATTTTACTGAAGAACCAACCAACCAGGAAGAATATGTGGGGCTGGTTAGGAGAGAAATCACTGCAACTTTACACCAACATATAGCTTTATATTTCAGAACTGTATAATGATGACTGCACAAGATACCAAATCAGAAGAGGTTCCATTTCCAAGTTCTGATTCATAAGAGCTTCCAAAGTAGAGCCGGTACATATTGAATTTTGATTCATCTGGAAGGATCTCGGACATCTCTAAAGAAACAAGGGACTG... |
Task1_train_11333 | Given a variant located on Chromosome 7 and affecting GATAD1, PEX1 (GATA zinc finger domain containing 1| peroxisomal biogenesis factor 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Heimler syndrome 1 | CTCCCAGCCCTGTCTTGAAAATCTTAACAAGGAATGCAAATTACCAATTAGTGTAAGCAAGAAACAAGACTATTTTACTGAAGAACCAACCAACCAGGAAGAATATGTGGGGCTGGTTAGGAGAGAAATCACTGCAACTTTACACCAACATATAGCTTTATATTTCAGAACTGTATAATGATGACTGCACAAGATACCAAATCAGAAGAGGTTCCATTTCCAAGTTCTGATTCATAAGAGCTTCCAAAGTAGAGCCGGTACATATTGAATTTTGATTCATCTGGAAGGATCTCGGACATCTCTAAAGAAACAAGGGACTG... | CTCCCAGCCCTGTCTTGAAAATCTTAACAAGGAATGCAAATTACCAATTAGTGTAAGCAAGAAACAAGACTATTTTACTGAAGAACCAACCAACCAGGAAGAATATGTGGGGCTGGTTAGGAGAGAAATCACTGCAACTTTACACCAACATATAGCTTTATATTTCAGAACTGTATAATGATGACTGCACAAGATACCAAATCAGAAGAGGTTCCATTTCCAAGTTCTGATTCATAAGAGCTTCCAAAGTAGAGCCGGTACATATTGAATTTTGATTCATCTGGAAGGATCTCGGACATCTCTAAAGAAACAAGGGACTG... |
Task1_train_11334 | The following genetic variant occurs in PEX1 (peroxisomal biogenesis factor 1) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Peroxisomal disorder | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11335 | A variant on Chromosome 7 in gene PEX1 (peroxisomal biogenesis factor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Heimler syndrome 1 | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11336 | The variant affects gene PEX1 (peroxisomal biogenesis factor 1), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Peroxisome biogenesis disorder 1A (Zellweger) | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11337 | This variant lies on Chromosome 7 and affects the gene PEX1 (peroxisomal biogenesis factor 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Peroxisome biogenesis disorder 1A (Zellweger) | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11338 | A variant has been detected on Chromosome 7 in PEX1 (peroxisomal biogenesis factor 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Peroxisome biogenesis disorder 1B | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11339 | This mutation is located in gene PEX1 (peroxisomal biogenesis factor 1) on Chromosome 7. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Zellweger spectrum disorders | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11340 | The variant affects gene PEX1 (peroxisomal biogenesis factor 1), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinal dystrophy | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11341 | This genomic variant is located on Chromosome 7, within the PEX1 (peroxisomal biogenesis factor 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Heimler syndrome 1 | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11342 | A sequence alteration has been identified in PEX1 (peroxisomal biogenesis factor 1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Peroxisome biogenesis disorder 1A (Zellweger) | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11343 | A genetic alteration is present in PEX1 (peroxisomal biogenesis factor 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Peroxisome biogenesis disorder 1B | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11344 | A sequence alteration has been identified in PEX1 (peroxisomal biogenesis factor 1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; not specified | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11345 | A mutation found in PEX1 (peroxisomal biogenesis factor 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11346 | Here is a variant affecting PEX1 (peroxisomal biogenesis factor 1) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Peroxisome biogenesis disorder | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11347 | A variant affecting Chromosome 7, within the gene PEX1 (peroxisomal biogenesis factor 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Peroxisome biogenesis disorder 1B | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11348 | A sequence alteration has been identified in PEX1 (peroxisomal biogenesis factor 1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Peroxisome biogenesis disorder due to PEX1 defect | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... | AGCAGATGAATGGTTGCCAGGGGATAAGCAAGAGGAGGAGTGGAATGAAAAAGTTTTGAAATTAGAGAGAGGTGGTGGTTGCATAGCATTGTGAATGCACTAAATGCCAGTGAATTTACACTTTGAAATGGCTAACTGCATTTATGTTAATTTTACCTAAATAAAAAAAGAAGATAAGTAGACAACATACCTTGACACTTATAAAATTCATTCTACTCTCTCGTGCAATTACCCCAGCTAGTAAGGTTTTTCCTGTTCCAGGCGGACCATACAACAGTATTCCTGTTCTTTGTCGTATGGGCAAGTTTGCAAATAATTCT... |
Task1_train_11349 | The gene LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Peroxisome biogenesis disorder 1B | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... |
Task1_train_11350 | The following genetic variant occurs in LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Peroxisome biogenesis disorder 1A (Zellweger) | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... |
Task1_train_11351 | Given this context: Chromosome 7, gene LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Peroxisome biogenesis disorder | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... |
Task1_train_11352 | Located on Chromosome 7, this mutation impacts LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Zellweger spectrum disorders | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... |
Task1_train_11353 | Here’s a variant in LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Peroxisome biogenesis disorder 1B | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... |
Task1_train_11354 | Located on Chromosome 7, this mutation impacts LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Peroxisome biogenesis disorder 1A (Zellweger) | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... |
Task1_train_11355 | Here is a genetic alteration in LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Heimler syndrome 1 | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... |
Task1_train_11356 | Given a variant located on Chromosome 7 and affecting LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Peroxisome biogenesis disorder type 1A | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... | CTGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATG... |
Task1_train_11357 | A mutation on Chromosome 7 affecting LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Peroxisome biogenesis disorder 1B | TGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATGA... | TGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATGA... |
Task1_train_11358 | A variant was discovered on Chromosome 7, affecting LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Peroxisome biogenesis disorder 1A (Zellweger) | TGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATGA... | TGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATGA... |
Task1_train_11359 | This sequence change occurs on Chromosome 7, altering LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Heimler syndrome 1 | TGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATGA... | TGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATGA... |
Task1_train_11360 | This mutation occurs in LOC129998796, PEX1 (ATAC-STARR-seq lymphoblastoid silent region 18372| peroxisomal biogenesis factor 1) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Zellweger spectrum disorders | TGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATGA... | TGCATGATCTGTATTATGCACTCAATGCTTCACCCCAAATAAAGTAATTCAAGTATTAACTCCCAACTTGTGAATCTTTCTGCTTTCATAATTATCTATGGCCTCTAACCCAAGAATTCTGGGAATCTATCCTAGACAACCAGAAATAAAATGATGTTTTCTAAACAAAGATGTGTTATTTTCAACGTCTGATTAAAATATAGTTTATCACTTCTAATGCCTAAAAATTAAGTACAATCTAAATGGTCAATCATAGTAAACAATTAAATAAATTATGGCAAATTTGTGCTAGAATACTAATTAACAACTTAAAATGATGA... |
Task1_train_11361 | A change on Chromosome 7 affects gene CDK6 (cyclin dependent kinase 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Microcephaly 12, primary, autosomal recessive | TTAGCATCAATCATGACTAGTATTCAAGTCTGTAATTGTTGAAGGACTCTGTCTTTACAGTTGAGACTATTCTAGACACATAAAGATAATTCCAATAAGCATTTCTGTAATCAACTCTTGGCTGTACCGAGTTATTCCTGCGATGAAGTAGAATGACTGTCTTAACTCCTACTCTGCTCTATTGACAGTAAATTATTCTTGGTTCTAACCATAAGCCTTTAACCCAATGTCTTCTACACTTGTTGGATGAAAAGAATCGCTGAAGGTACTTTTAAAAATAAGAATTCCTGGCCCCAGCCCAGTAATGAATCAGAATCTCA... | TTAGCATCAATCATGACTAGTATTCAAGTCTGTAATTGTTGAAGGACTCTGTCTTTACAGTTGAGACTATTCTAGACACATAAAGATAATTCCAATAAGCATTTCTGTAATCAACTCTTGGCTGTACCGAGTTATTCCTGCGATGAAGTAGAATGACTGTCTTAACTCCTACTCTGCTCTATTGACAGTAAATTATTCTTGGTTCTAACCATAAGCCTTTAACCCAATGTCTTCTACACTTGTTGGATGAAAAGAATCGCTGAAGGTACTTTTAAAAATAAGAATTCCTGGCCCCAGCCCAGTAATGAATCAGAATCTCA... |
Task1_train_11362 | The gene SAMD9 (sterile alpha motif domain containing 9) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CTTATAAGTTATGGAGTTAAAATTTTATGCAGAAGCAAGGGAAAATCTTCCTCCAGTGAAAAAATTCTAATGAGATTTTGAAGACAGAAACAAATCACATTTTTTTTGTTTTTGTTTTCTAAATGTTTTACAAGAGAAAATTTCAAAAGCATAATCAGTAAGAGGGAGAAAAGTGTGCTGAATTCCATGTATCCAGCTTGCAGCCATTGTTAACTCAGGACTAATCTTGTTTCGGTTCTACTTCCCTTTCACCACCCCCACACCCCAAACACAAAATTACTGATTCTAGATCATGTCATTTATTTACAAATACTTTAGTA... | CTTATAAGTTATGGAGTTAAAATTTTATGCAGAAGCAAGGGAAAATCTTCCTCCAGTGAAAAAATTCTAATGAGATTTTGAAGACAGAAACAAATCACATTTTTTTTGTTTTTGTTTTCTAAATGTTTTACAAGAGAAAATTTCAAAAGCATAATCAGTAAGAGGGAGAAAAGTGTGCTGAATTCCATGTATCCAGCTTGCAGCCATTGTTAACTCAGGACTAATCTTGTTTCGGTTCTACTTCCCTTTCACCACCCCCACACCCCAAACACAAAATTACTGATTCTAGATCATGTCATTTATTTACAAATACTTTAGTA... |
Task1_train_11363 | This variant impacts the gene SAMD9 (sterile alpha motif domain containing 9) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TTCCCCTTTCTGGATATTGCTGATTGCATATTTGTGGTGGTGTTAGTAGGATTTTTTTAAAATTTCTTTTGAATTGCAAATAAGATCCAGAGACCTGATCAAATTCAGGTTTAATTATTTGGCAAGACCATGTCACGGGTGATGTGTGCACTCCTATAGTACTTCCAGGCCCATAATGTCTGGTCTTCCTCTGTGATGTTAATATTTATCAGGATTTGGGACAGTTTGATAAATCCATTAGAAATTTTTGTTTTTTAATCAGCTTTCCACTTAATGGTTTTGGCAGCCATTGATGACTGCCCATATCCATAATTTTATTA... | TTCCCCTTTCTGGATATTGCTGATTGCATATTTGTGGTGGTGTTAGTAGGATTTTTTTAAAATTTCTTTTGAATTGCAAATAAGATCCAGAGACCTGATCAAATTCAGGTTTAATTATTTGGCAAGACCATGTCACGGGTGATGTGTGCACTCCTATAGTACTTCCAGGCCCATAATGTCTGGTCTTCCTCTGTGATGTTAATATTTATCAGGATTTGGGACAGTTTGATAAATCCATTAGAAATTTTTGTTTTTTAATCAGCTTTCCACTTAATGGTTTTGGCAGCCATTGATGACTGCCCATATCCATAATTTTATTA... |
Task1_train_11364 | Gene SAMD9 (sterile alpha motif domain containing 9), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Monosomy 7 myelodysplasia and leukemia syndrome 2 | GAGTGTCTGTATGTTTTTTTTTTAATTGTTTGTTTGGAGGGGAGTTGATAAGCTAATTAGCTATAGAGACAAATTTCATTTTTGCTTAACTGAATCTCACTGCATGAAAAGGCAATCTAATTCTCCAACCTACTTTGGTAAGGTCTGATGACTTCTGTGGGCATGACCTTCAGAAGACTGGTTGGTCCTCTGTTTTGGAAGATCCTTGAGTGCCAAGCACATGATACATTGATGATCTGCTTAGTAAGAATAAATGTTGCTCCTCAGTTTGAGAGGTTTTTGCTGTCTTTGAGAAATATTTTCCCAGACATTCTAATGTC... | GAGTGTCTGTATGTTTTTTTTTTAATTGTTTGTTTGGAGGGGAGTTGATAAGCTAATTAGCTATAGAGACAAATTTCATTTTTGCTTAACTGAATCTCACTGCATGAAAAGGCAATCTAATTCTCCAACCTACTTTGGTAAGGTCTGATGACTTCTGTGGGCATGACCTTCAGAAGACTGGTTGGTCCTCTGTTTTGGAAGATCCTTGAGTGCCAAGCACATGATACATTGATGATCTGCTTAGTAAGAATAAATGTTGCTCCTCAGTTTGAGAGGTTTTTGCTGTCTTTGAGAAATATTTTCCCAGACATTCTAATGTC... |
Task1_train_11365 | Here’s a variant in SAMD9 (sterile alpha motif domain containing 9) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inborn genetic diseases | TATATCTCACTCCTTCCTTTTTCACTATTGTCTTTGTAGAACTCATAACATGTTTAAGAGGAAATTAAATACTGCATGTACAGATCTGAAGAGCTAGAGGCTGTATCTATAACCTTGCCGGTTTAAAGCATAGATCTTGAGTCCAAAAAAATTAAATGGGTACTGAGATCAAATTCTTGGAGGAAGAATATCAGGCTCTTAAACAATTTCAATGTCATAAGCAAGTGGGCCTCCAATGGAAAATCCCAGGTAAAAAGACACCTTCTCTATGCTTCTGCCACTTCTAAGTTGACCTAAAAAAGCGGGAGTGATGGGTATTG... | TATATCTCACTCCTTCCTTTTTCACTATTGTCTTTGTAGAACTCATAACATGTTTAAGAGGAAATTAAATACTGCATGTACAGATCTGAAGAGCTAGAGGCTGTATCTATAACCTTGCCGGTTTAAAGCATAGATCTTGAGTCCAAAAAAATTAAATGGGTACTGAGATCAAATTCTTGGAGGAAGAATATCAGGCTCTTAAACAATTTCAATGTCATAAGCAAGTGGGCCTCCAATGGAAAATCCCAGGTAAAAAGACACCTTCTCTATGCTTCTGCCACTTCTAAGTTGACCTAAAAAAGCGGGAGTGATGGGTATTG... |
Task1_train_11366 | This variant lies on Chromosome 7 and affects the gene SAMD9 (sterile alpha motif domain containing 9). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; MIRAGE syndrome | CTGGTGTCTTCTTAAAGCACTGGTCAATTTTTCCTTTGTGAACAAGTCTTTCCAGTCTTTTACCTTTTCCAAGAAAGAAATATGCAATTGGTTGCTTTGTACGATGCATATGTTTATATTGCCCCTTGAAAGAATTTTTTAGTGCTTGAGCATACTCTTTCATTTGTTCAGAATGTTGATCTAGTTGTTGATTTTCTGGCCAGAATAAGAGGGAAGCTAGAAAATACGGTTCTGAAAACTGATAAGTCAGTCCTATTGGTTGCAAGACTTCTCGAAGCTGATCTTTTAGTTTTTCAACTGGCTTTACTAATCTGGAGGTA... | CTGGTGTCTTCTTAAAGCACTGGTCAATTTTTCCTTTGTGAACAAGTCTTTCCAGTCTTTTACCTTTTCCAAGAAAGAAATATGCAATTGGTTGCTTTGTACGATGCATATGTTTATATTGCCCCTTGAAAGAATTTTTTAGTGCTTGAGCATACTCTTTCATTTGTTCAGAATGTTGATCTAGTTGTTGATTTTCTGGCCAGAATAAGAGGGAAGCTAGAAAATACGGTTCTGAAAACTGATAAGTCAGTCCTATTGGTTGCAAGACTTCTCGAAGCTGATCTTTTAGTTTTTCAACTGGCTTTACTAATCTGGAGGTA... |
Task1_train_11367 | This sequence variant lies in SAMD9 (sterile alpha motif domain containing 9) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; SAMD9-related disorder | CTGGTGTCTTCTTAAAGCACTGGTCAATTTTTCCTTTGTGAACAAGTCTTTCCAGTCTTTTACCTTTTCCAAGAAAGAAATATGCAATTGGTTGCTTTGTACGATGCATATGTTTATATTGCCCCTTGAAAGAATTTTTTAGTGCTTGAGCATACTCTTTCATTTGTTCAGAATGTTGATCTAGTTGTTGATTTTCTGGCCAGAATAAGAGGGAAGCTAGAAAATACGGTTCTGAAAACTGATAAGTCAGTCCTATTGGTTGCAAGACTTCTCGAAGCTGATCTTTTAGTTTTTCAACTGGCTTTACTAATCTGGAGGTA... | CTGGTGTCTTCTTAAAGCACTGGTCAATTTTTCCTTTGTGAACAAGTCTTTCCAGTCTTTTACCTTTTCCAAGAAAGAAATATGCAATTGGTTGCTTTGTACGATGCATATGTTTATATTGCCCCTTGAAAGAATTTTTTAGTGCTTGAGCATACTCTTTCATTTGTTCAGAATGTTGATCTAGTTGTTGATTTTCTGGCCAGAATAAGAGGGAAGCTAGAAAATACGGTTCTGAAAACTGATAAGTCAGTCCTATTGGTTGCAAGACTTCTCGAAGCTGATCTTTTAGTTTTTCAACTGGCTTTACTAATCTGGAGGTA... |
Task1_train_11368 | A mutation in SAMD9 (sterile alpha motif domain containing 9), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; MIRAGE syndrome | TTCAGAATGTTGATCTAGTTGTTGATTTTCTGGCCAGAATAAGAGGGAAGCTAGAAAATACGGTTCTGAAAACTGATAAGTCAGTCCTATTGGTTGCAAGACTTCTCGAAGCTGATCTTTTAGTTTTTCAACTGGCTTTACTAATCTGGAGGTAGGTTGGATACAGGAGAGAATAATGTTGGCCAAGATGAAATTTAGCTTTTCTTTTGACTGGATTTTGACAGTGCATTGTTCTAAGAGAAAAGTATATTCGTTCACTATACATTTCATAGTGCTTATAGCATCCTCTTGACTTTTGATAAGATATTCCAAGAGCCCAG... | TTCAGAATGTTGATCTAGTTGTTGATTTTCTGGCCAGAATAAGAGGGAAGCTAGAAAATACGGTTCTGAAAACTGATAAGTCAGTCCTATTGGTTGCAAGACTTCTCGAAGCTGATCTTTTAGTTTTTCAACTGGCTTTACTAATCTGGAGGTAGGTTGGATACAGGAGAGAATAATGTTGGCCAAGATGAAATTTAGCTTTTCTTTTGACTGGATTTTGACAGTGCATTGTTCTAAGAGAAAAGTATATTCGTTCACTATACATTTCATAGTGCTTATAGCATCCTCTTGACTTTTGATAAGATATTCCAAGAGCCCAG... |
Task1_train_11369 | Given this context: Chromosome 7, gene SAMD9 (sterile alpha motif domain containing 9) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; MIRAGE syndrome | CGTTCACTATACATTTCATAGTGCTTATAGCATCCTCTTGACTTTTGATAAGATATTCCAAGAGCCCAGAAAACTTGTCTGCTTTTAAAGCTACTAGGTTTCTCCTGCATCTCTCTACTTGAAGTGGCTCACTGAACTTTGATCCAAGACCTGTGTTGTTTTGTGATTCTTCTAAGAGACAAAATATATCTACATATTTCTTAAAATATCCAGCCACCTTTCTCCGAGTTTTGGCCTCTTCATTTTGCTTAATATTGTTCCTGGGTTTTAGCAGGACAAAGTATTCATCAAAAAAATCAAAGGACTTTTTCAAAGAAAAT... | CGTTCACTATACATTTCATAGTGCTTATAGCATCCTCTTGACTTTTGATAAGATATTCCAAGAGCCCAGAAAACTTGTCTGCTTTTAAAGCTACTAGGTTTCTCCTGCATCTCTCTACTTGAAGTGGCTCACTGAACTTTGATCCAAGACCTGTGTTGTTTTGTGATTCTTCTAAGAGACAAAATATATCTACATATTTCTTAAAATATCCAGCCACCTTTCTCCGAGTTTTGGCCTCTTCATTTTGCTTAATATTGTTCCTGGGTTTTAGCAGGACAAAGTATTCATCAAAAAAATCAAAGGACTTTTTCAAAGAAAAT... |
Task1_train_11370 | Gene SAMD9 (sterile alpha motif domain containing 9), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | CGTTCACTATACATTTCATAGTGCTTATAGCATCCTCTTGACTTTTGATAAGATATTCCAAGAGCCCAGAAAACTTGTCTGCTTTTAAAGCTACTAGGTTTCTCCTGCATCTCTCTACTTGAAGTGGCTCACTGAACTTTGATCCAAGACCTGTGTTGTTTTGTGATTCTTCTAAGAGACAAAATATATCTACATATTTCTTAAAATATCCAGCCACCTTTCTCCGAGTTTTGGCCTCTTCATTTTGCTTAATATTGTTCCTGGGTTTTAGCAGGACAAAGTATTCATCAAAAAAATCAAAGGACTTTTTCAAAGAAAAT... | CGTTCACTATACATTTCATAGTGCTTATAGCATCCTCTTGACTTTTGATAAGATATTCCAAGAGCCCAGAAAACTTGTCTGCTTTTAAAGCTACTAGGTTTCTCCTGCATCTCTCTACTTGAAGTGGCTCACTGAACTTTGATCCAAGACCTGTGTTGTTTTGTGATTCTTCTAAGAGACAAAATATATCTACATATTTCTTAAAATATCCAGCCACCTTTCTCCGAGTTTTGGCCTCTTCATTTTGCTTAATATTGTTCCTGGGTTTTAGCAGGACAAAGTATTCATCAAAAAAATCAAAGGACTTTTTCAAAGAAAAT... |
Task1_train_11371 | A mutation found in SAMD9 (sterile alpha motif domain containing 9) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Monosomy 7 myelodysplasia and leukemia syndrome 2 | AGCATCCTCTTGACTTTTGATAAGATATTCCAAGAGCCCAGAAAACTTGTCTGCTTTTAAAGCTACTAGGTTTCTCCTGCATCTCTCTACTTGAAGTGGCTCACTGAACTTTGATCCAAGACCTGTGTTGTTTTGTGATTCTTCTAAGAGACAAAATATATCTACATATTTCTTAAAATATCCAGCCACCTTTCTCCGAGTTTTGGCCTCTTCATTTTGCTTAATATTGTTCCTGGGTTTTAGCAGGACAAAGTATTCATCAAAAAAATCAAAGGACTTTTTCAAAGAAAATTTCAATTTAGTTAAATAAGGAATATAGT... | AGCATCCTCTTGACTTTTGATAAGATATTCCAAGAGCCCAGAAAACTTGTCTGCTTTTAAAGCTACTAGGTTTCTCCTGCATCTCTCTACTTGAAGTGGCTCACTGAACTTTGATCCAAGACCTGTGTTGTTTTGTGATTCTTCTAAGAGACAAAATATATCTACATATTTCTTAAAATATCCAGCCACCTTTCTCCGAGTTTTGGCCTCTTCATTTTGCTTAATATTGTTCCTGGGTTTTAGCAGGACAAAGTATTCATCAAAAAAATCAAAGGACTTTTTCAAAGAAAATTTCAATTTAGTTAAATAAGGAATATAGT... |
Task1_train_11372 | Here is a genetic alteration in SAMD9 (sterile alpha motif domain containing 9) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CGTTTCCTCCGTTTTCCTCTATCCACCATCTTATTTTACTTTTGTAGACTTGACCCAGTGTATCTGAGATATAAGAATTGTCAGGTTCTATGATTTTTGCTTGTTTTGCCCAGTTTAGAGCATTGCCAAAGTCCTTCTTTTTAATGTAGAAATGTCTTGCCAACGCTTGGCAAATGAATGCATTTGGGTTGAACCGATGGATACTTTCAAGCAATACAGCTTCAACTGCTTCATTTCCTTCATCTTTATGTAATGCTTCAATAAATGGGGAAAACCAATTTCCTGTTTCACCTTCATGTTCATCGCGGTGTCTTGTGAGT... | CGTTTCCTCCGTTTTCCTCTATCCACCATCTTATTTTACTTTTGTAGACTTGACCCAGTGTATCTGAGATATAAGAATTGTCAGGTTCTATGATTTTTGCTTGTTTTGCCCAGTTTAGAGCATTGCCAAAGTCCTTCTTTTTAATGTAGAAATGTCTTGCCAACGCTTGGCAAATGAATGCATTTGGGTTGAACCGATGGATACTTTCAAGCAATACAGCTTCAACTGCTTCATTTCCTTCATCTTTATGTAATGCTTCAATAAATGGGGAAAACCAATTTCCTGTTTCACCTTCATGTTCATCGCGGTGTCTTGTGAGT... |
Task1_train_11373 | The gene SAMD9L (sterile alpha motif domain containing 9 like) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TCATTAAGGGTGGGGTGACATTTTGCATATTACACTATATTTCTTTTCAGGAAGAATGTAATTATTTCTGGGGGCATCAAAGGGTTTGCATCCTACTCTCTAAGTCAAGCATTCACGTTTAGGTGTTGTTGCATTCAGAAGAATGAGAAAAGATCACTCTATAGCATGGCTGTTGAAATGGGGGCTAAGGAGAAGGAAGCTCTCTAAGATACCTGGTGGTGGGGTCAGAATTATTAACTCTAAAGATAATTATGGTTAGCAGGAATATTTAGTAGTTTTTCCTCCTTTCATTATAACTTTTTTCTCTACATCAAGCCTTT... | TCATTAAGGGTGGGGTGACATTTTGCATATTACACTATATTTCTTTTCAGGAAGAATGTAATTATTTCTGGGGGCATCAAAGGGTTTGCATCCTACTCTCTAAGTCAAGCATTCACGTTTAGGTGTTGTTGCATTCAGAAGAATGAGAAAAGATCACTCTATAGCATGGCTGTTGAAATGGGGGCTAAGGAGAAGGAAGCTCTCTAAGATACCTGGTGGTGGGGTCAGAATTATTAACTCTAAAGATAATTATGGTTAGCAGGAATATTTAGTAGTTTTTCCTCCTTTCATTATAACTTTTTTCTCTACATCAAGCCTTT... |
Task1_train_11374 | Consider a variant on Chromosome 7 in gene SAMD9L (sterile alpha motif domain containing 9 like). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CATTAAGGGTGGGGTGACATTTTGCATATTACACTATATTTCTTTTCAGGAAGAATGTAATTATTTCTGGGGGCATCAAAGGGTTTGCATCCTACTCTCTAAGTCAAGCATTCACGTTTAGGTGTTGTTGCATTCAGAAGAATGAGAAAAGATCACTCTATAGCATGGCTGTTGAAATGGGGGCTAAGGAGAAGGAAGCTCTCTAAGATACCTGGTGGTGGGGTCAGAATTATTAACTCTAAAGATAATTATGGTTAGCAGGAATATTTAGTAGTTTTTCCTCCTTTCATTATAACTTTTTTCTCTACATCAAGCCTTTA... | CATTAAGGGTGGGGTGACATTTTGCATATTACACTATATTTCTTTTCAGGAAGAATGTAATTATTTCTGGGGGCATCAAAGGGTTTGCATCCTACTCTCTAAGTCAAGCATTCACGTTTAGGTGTTGTTGCATTCAGAAGAATGAGAAAAGATCACTCTATAGCATGGCTGTTGAAATGGGGGCTAAGGAGAAGGAAGCTCTCTAAGATACCTGGTGGTGGGGTCAGAATTATTAACTCTAAAGATAATTATGGTTAGCAGGAATATTTAGTAGTTTTTCCTCCTTTCATTATAACTTTTTTCTCTACATCAAGCCTTTA... |
Task1_train_11375 | This is a variant in SAMD9L (sterile alpha motif domain containing 9 like), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Monosomy 7 myelodysplasia and leukemia syndrome 1 | AATATTCAATTTAATCTATATTAGCCTATGTTTCACTTTATAGGCAATGCGTAGTTCTTAAATTCCAAGCTCTAGAATGCTGCTTGAGACTGTTCTGGCTGTTGTGCATCTGAGAATGAGCTTCTGGGATGGCATTCCTTGACACTGAAAACTTGAGAACACATATTACCATGAGGAAGCCCTCTAATCAGGCAGGAATGATGGTGGTCAAGGAAGACTTCCTGGTGAAGGTGACTCTTGAAATCAGTTGTGAATGACAAATCAGAATAGCAGGAGAGAGAATGTTAGATGGAAATAAGGCAATCTCAACAGAGAGAACA... | AATATTCAATTTAATCTATATTAGCCTATGTTTCACTTTATAGGCAATGCGTAGTTCTTAAATTCCAAGCTCTAGAATGCTGCTTGAGACTGTTCTGGCTGTTGTGCATCTGAGAATGAGCTTCTGGGATGGCATTCCTTGACACTGAAAACTTGAGAACACATATTACCATGAGGAAGCCCTCTAATCAGGCAGGAATGATGGTGGTCAAGGAAGACTTCCTGGTGAAGGTGACTCTTGAAATCAGTTGTGAATGACAAATCAGAATAGCAGGAGAGAGAATGTTAGATGGAAATAAGGCAATCTCAACAGAGAGAACA... |
Task1_train_11376 | A variant affecting Chromosome 7, within the gene SAMD9L (sterile alpha motif domain containing 9 like), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Monosomy 7 myelodysplasia and leukemia syndrome 1 | ACTTCTTAATTATTTGAGTCTGAAAATGCATATTTAAAACATTAAAAGATTGACTCCACTTTGTGCCAAGCTCTGCGGGTAGGCATATTTCATATCTTAAAAAGGCTTGTAATTCATTCAGGGAGGCAAAAGCAAAATCTGTAATTAGAGGTTAGCCATAATGTTATGAAAGTGCCATGAGAATAGAGAGAGAGAATAAAATCATAAAGATATAAATAAACGTATTTGAACTACAGGTGATGTATTGTCTTAAATTACTTCTATATCATATGCCAGAGGGCCTTCAATGGAAAATCCTAGGTAGAAAGACACTCTTTCTA... | ACTTCTTAATTATTTGAGTCTGAAAATGCATATTTAAAACATTAAAAGATTGACTCCACTTTGTGCCAAGCTCTGCGGGTAGGCATATTTCATATCTTAAAAAGGCTTGTAATTCATTCAGGGAGGCAAAAGCAAAATCTGTAATTAGAGGTTAGCCATAATGTTATGAAAGTGCCATGAGAATAGAGAGAGAGAATAAAATCATAAAGATATAAATAAACGTATTTGAACTACAGGTGATGTATTGTCTTAAATTACTTCTATATCATATGCCAGAGGGCCTTCAATGGAAAATCCTAGGTAGAAAGACACTCTTTCTA... |
Task1_train_11377 | This sequence variant lies in SAMD9L (sterile alpha motif domain containing 9 like) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ataxia-pancytopenia syndrome | ACTTCTTAATTATTTGAGTCTGAAAATGCATATTTAAAACATTAAAAGATTGACTCCACTTTGTGCCAAGCTCTGCGGGTAGGCATATTTCATATCTTAAAAAGGCTTGTAATTCATTCAGGGAGGCAAAAGCAAAATCTGTAATTAGAGGTTAGCCATAATGTTATGAAAGTGCCATGAGAATAGAGAGAGAGAATAAAATCATAAAGATATAAATAAACGTATTTGAACTACAGGTGATGTATTGTCTTAAATTACTTCTATATCATATGCCAGAGGGCCTTCAATGGAAAATCCTAGGTAGAAAGACACTCTTTCTA... | ACTTCTTAATTATTTGAGTCTGAAAATGCATATTTAAAACATTAAAAGATTGACTCCACTTTGTGCCAAGCTCTGCGGGTAGGCATATTTCATATCTTAAAAAGGCTTGTAATTCATTCAGGGAGGCAAAAGCAAAATCTGTAATTAGAGGTTAGCCATAATGTTATGAAAGTGCCATGAGAATAGAGAGAGAGAATAAAATCATAAAGATATAAATAAACGTATTTGAACTACAGGTGATGTATTGTCTTAAATTACTTCTATATCATATGCCAGAGGGCCTTCAATGGAAAATCCTAGGTAGAAAGACACTCTTTCTA... |
Task1_train_11378 | Gene SAMD9L (sterile alpha motif domain containing 9 like) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ataxia-pancytopenia syndrome | CAATGGAAAATCCTAGGTAGAAAGACACTCTTTCTATGTTCCTACCACTTCTGAGTGGACCTGAATAAACAGATATTACTGGTATTTTTATTTTTTCCTCTGTTCCATATTCTACAGAGATTAGCTTGCCTTCAGCCTGACCAGTTAGACGACGCAGGAGGTCTTTGACTTCATTTTTTTTCCACACATCCCCACTGTGCCAGAGGGAATTTGTATTTTGTGCTTTATCAAAGTACTGCTCTATTTTGGCCTTGTGAACAATACTGTTTAGACCCTTCCTTTTGCCCAGATAGAAAAGTGTGCTTGCCTGCTTGGACCTG... | CAATGGAAAATCCTAGGTAGAAAGACACTCTTTCTATGTTCCTACCACTTCTGAGTGGACCTGAATAAACAGATATTACTGGTATTTTTATTTTTTCCTCTGTTCCATATTCTACAGAGATTAGCTTGCCTTCAGCCTGACCAGTTAGACGACGCAGGAGGTCTTTGACTTCATTTTTTTTCCACACATCCCCACTGTGCCAGAGGGAATTTGTATTTTGTGCTTTATCAAAGTACTGCTCTATTTTGGCCTTGTGAACAATACTGTTTAGACCCTTCCTTTTGCCCAGATAGAAAAGTGTGCTTGCCTGCTTGGACCTG... |
Task1_train_11379 | This is a variant in COL1A2 (collagen type I alpha 2 chain), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AACTATGTGGTTTTGCATTGTATAACACTTTTGCCAATATATGAATACCTATATCTTATATCTATTAGGAAGAGGAGACTTACATGTATTTCACTCAATTTATTAGAAATAGAATTAAATCAGTTAATTATTTTAACAATACAAGTAGTTAATGATAGTAAATCTGCAGGATTTTCTCTCCTATGATAAAGTGACCTTATTAACTGTCACATCAGTTAATTCATTCACATGTAACATACCAAAACAATTGAATCAGTTTGTCACAGTCAGAGATCGGCAATAAAAATACGATGTAAGTCCTTGTGCACTGTTAAACATAT... | AACTATGTGGTTTTGCATTGTATAACACTTTTGCCAATATATGAATACCTATATCTTATATCTATTAGGAAGAGGAGACTTACATGTATTTCACTCAATTTATTAGAAATAGAATTAAATCAGTTAATTATTTTAACAATACAAGTAGTTAATGATAGTAAATCTGCAGGATTTTCTCTCCTATGATAAAGTGACCTTATTAACTGTCACATCAGTTAATTCATTCACATGTAACATACCAAAACAATTGAATCAGTTTGTCACAGTCAGAGATCGGCAATAAAAATACGATGTAAGTCCTTGTGCACTGTTAAACATAT... |
Task1_train_11380 | With a mutation on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Osteogenesis imperfecta type I | AACTATGTGGTTTTGCATTGTATAACACTTTTGCCAATATATGAATACCTATATCTTATATCTATTAGGAAGAGGAGACTTACATGTATTTCACTCAATTTATTAGAAATAGAATTAAATCAGTTAATTATTTTAACAATACAAGTAGTTAATGATAGTAAATCTGCAGGATTTTCTCTCCTATGATAAAGTGACCTTATTAACTGTCACATCAGTTAATTCATTCACATGTAACATACCAAAACAATTGAATCAGTTTGTCACAGTCAGAGATCGGCAATAAAAATACGATGTAAGTCCTTGTGCACTGTTAAACATAT... | AACTATGTGGTTTTGCATTGTATAACACTTTTGCCAATATATGAATACCTATATCTTATATCTATTAGGAAGAGGAGACTTACATGTATTTCACTCAATTTATTAGAAATAGAATTAAATCAGTTAATTATTTTAACAATACAAGTAGTTAATGATAGTAAATCTGCAGGATTTTCTCTCCTATGATAAAGTGACCTTATTAACTGTCACATCAGTTAATTCATTCACATGTAACATACCAAAACAATTGAATCAGTTTGTCACAGTCAGAGATCGGCAATAAAAATACGATGTAAGTCCTTGTGCACTGTTAAACATAT... |
Task1_train_11381 | The variant affects gene COL1A2 (collagen type I alpha 2 chain), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Osteogenesis imperfecta type I | AAGTGTTAGGTTGATTAAGCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAAT... | AAGTGTTAGGTTGATTAAGCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAAT... |
Task1_train_11382 | Given this context: Chromosome 7, gene COL1A2 (collagen type I alpha 2 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AAGTGTTAGGTTGATTAAGCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAAT... | AAGTGTTAGGTTGATTAAGCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAAT... |
Task1_train_11383 | A sequence alteration has been identified in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GGTTGATTAAGCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATAT... | GGTTGATTAAGCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATAT... |
Task1_train_11384 | The following genetic variant occurs in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Osteogenesis imperfecta type I | GGTTGATTAAGCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATAT... | GGTTGATTAAGCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATAT... |
Task1_train_11385 | This alteration occurs within gene COL1A2 (collagen type I alpha 2 chain) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Osteogenesis imperfecta type I | GCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAA... | GCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAA... |
Task1_train_11386 | A variant found in Chromosome 7 affects COL1A2 (collagen type I alpha 2 chain). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAA... | GCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAA... |
Task1_train_11387 | Mutation context: Chromosome 7, Gene COL1A2 (collagen type I alpha 2 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | GCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAA... | GCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAA... |
Task1_train_11388 | Consider this mutation in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Osteogenesis imperfecta type I | GCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAA... | GCACTACAGAATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAA... |
Task1_train_11389 | Consider a variant on Chromosome 7 in gene COL1A2 (collagen type I alpha 2 chain). Determine its clinical classification and disease relevance. | Pathogenic; Osteogenesis imperfecta type I | AATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAG... | AATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAG... |
Task1_train_11390 | The gene COL1A2 (collagen type I alpha 2 chain) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAG... | AATTTAATGTATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAG... |
Task1_train_11391 | A variant has been detected on Chromosome 7 in COL1A2 (collagen type I alpha 2 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTT... | TATACACACACACGCAATTTAGTGATTTTAATTAATTGTTTCAAAACAAAGGTATTTATCTGCCCAAAGTCAACAAGGTCTTTAAAATGTAAATTTTACCTGGGCAGTGCACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTT... |
Task1_train_11392 | The variant affects gene COL1A2 (collagen type I alpha 2 chain), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Osteogenesis imperfecta type I | ACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTTTGGCTTTGTTTATATTGGATTTTTGAAATTAGCTGTTTCAGCTAATGCTGGACATTAGTCAGTTTTAAAGCAGTACCTACATCTCAAGAAGAAGCAAGGGGGCGGAAAGT... | ACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTTTGGCTTTGTTTATATTGGATTTTTGAAATTAGCTGTTTCAGCTAATGCTGGACATTAGTCAGTTTTAAAGCAGTACCTACATCTCAAGAAGAAGCAAGGGGGCGGAAAGT... |
Task1_train_11393 | A variant has been detected on Chromosome 7 in COL1A2 (collagen type I alpha 2 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | ACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTTTGGCTTTGTTTATATTGGATTTTTGAAATTAGCTGTTTCAGCTAATGCTGGACATTAGTCAGTTTTAAAGCAGTACCTACATCTCAAGAAGAAGCAAGGGGGCGGAAAGT... | ACTTAGTGCTCTATCTTCAAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTTTGGCTTTGTTTATATTGGATTTTTGAAATTAGCTGTTTCAGCTAATGCTGGACATTAGTCAGTTTTAAAGCAGTACCTACATCTCAAGAAGAAGCAAGGGGGCGGAAAGT... |
Task1_train_11394 | An alteration has been detected in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Osteogenesis imperfecta type I | AAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTTTGGCTTTGTTTATATTGGATTTTTGAAATTAGCTGTTTCAGCTAATGCTGGACATTAGTCAGTTTTAAAGCAGTACCTACATCTCAAGAAGAAGCAAGGGGGCGGAAAGTAAAGAGCTACTAAATGTC... | AAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTTTGGCTTTGTTTATATTGGATTTTTGAAATTAGCTGTTTCAGCTAATGCTGGACATTAGTCAGTTTTAAAGCAGTACCTACATCTCAAGAAGAAGCAAGGGGGCGGAAAGTAAAGAGCTACTAAATGTC... |
Task1_train_11395 | Located on Chromosome 7, this mutation impacts COL1A2 (collagen type I alpha 2 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | AAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTTTGGCTTTGTTTATATTGGATTTTTGAAATTAGCTGTTTCAGCTAATGCTGGACATTAGTCAGTTTTAAAGCAGTACCTACATCTCAAGAAGAAGCAAGGGGGCGGAAAGTAAAGAGCTACTAAATGTC... | AAAAGAAGATGTTCTGCTGGAGCTAATGGCCCACAGTAAGCTAATATACTCTAAGGGTGAGATAATATTTTCTGTAAATTAAAACTCCCACTTGAGAAATAATGTACCTTTAATTGACGACTTCTAATTCCCTAATTTTTTCTGGTAGTTTAAAATGTTCATATCTGAAATGAAAAAGTAGAGTGTTTCTTTTGGCTTTGTTTATATTGGATTTTTGAAATTAGCTGTTTCAGCTAATGCTGGACATTAGTCAGTTTTAAAGCAGTACCTACATCTCAAGAAGAAGCAAGGGGGCGGAAAGTAAAGAGCTACTAAATGTC... |
Task1_train_11396 | The gene COL1A2 (collagen type I alpha 2 chain) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Postmenopausal osteoporosis | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11397 | This gene mutation involves COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Osteogenesis imperfecta type I | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11398 | This alteration occurs within gene COL1A2 (collagen type I alpha 2 chain) located on Chromosome 7. Is it associated with a disease or is it a benign variant? | Pathogenic; Ehlers-Danlos syndrome, classic type, 1 | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
Task1_train_11399 | This sequence variant lies in COL1A2 (collagen type I alpha 2 chain) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... | ATTCTGCACTTCTGCAAAGACTGATTCACTTCATTGCATCAGAACAATCTCAATATGCCCAATTGTGCACAACTTTAAGGAACCTATCTGCCCCGTCTAATTCTCATTGATTTCTGTTGATAAGGATTGGGAGAAAAGGAAAAGCAAAGGGAGAGAACTAGTGCAGGAAGTTTGAGTCCTTAAATTCTTCCTTGGGAGGAATAAAAACTATGGAATCAAACCACAACAATGGCACTGCTAAGTTGGTCATATCTGACCCCAGCCAACACCATGACAACTTATCAGTGCTAACTGTTGATATATCTGCTTTCTTTACAGGG... |
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