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 |
|---|---|---|---|---|
Task1_train_16800 | A variant found in Chromosome 11 affects HMBS (hydroxymethylbilane synthase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Acute intermittent porphyria | ACTCCCACTGACAACTGCCTTGGTCAAGGTGGGCTTCAGGGCTCAGTGTCCTGGTTACTGCAGCGGCAGCAACAGCAGGTCCTACTATCGCCTCCCTCTAGTCTCTGCTTCTCTGGATCCCTGAGGAGGGCAGAAGGTACTGAGGAAGGTTAAAGGGACCAGCCTTGGAGTATTTCCCCACTCTGAGACTCAGCTGGCCACAGGCCAGGTTCTGAAGTTCCTTTCTTCCAAGCCAGTGATTCTGGTTCTTGGACAAGGTGTTGAGGAACACTAGAAACAGAGGGGACTGTGACCTGGGGACTTTTTCTGCAGGAAGAAAA... | ACTCCCACTGACAACTGCCTTGGTCAAGGTGGGCTTCAGGGCTCAGTGTCCTGGTTACTGCAGCGGCAGCAACAGCAGGTCCTACTATCGCCTCCCTCTAGTCTCTGCTTCTCTGGATCCCTGAGGAGGGCAGAAGGTACTGAGGAAGGTTAAAGGGACCAGCCTTGGAGTATTTCCCCACTCTGAGACTCAGCTGGCCACAGGCCAGGTTCTGAAGTTCCTTTCTTCCAAGCCAGTGATTCTGGTTCTTGGACAAGGTGTTGAGGAACACTAGAAACAGAGGGGACTGTGACCTGGGGACTTTTTCTGCAGGAAGAAAA... |
Task1_train_16801 | Here is a mutation in HMBS (hydroxymethylbilane synthase) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Acute intermittent porphyria | TTCTTCCAAGCCAGTGATTCTGGTTCTTGGACAAGGTGTTGAGGAACACTAGAAACAGAGGGGACTGTGACCTGGGGACTTTTTCTGCAGGAAGAAAACAGCCCAAAGATGAGAGTGATTCGCGTGGGTACCCGCAAGAGCCAGGTGGGTGCAGGAGCCGGGGTGGAGGAGGTTTGTCAGAACAGTTATGATGCTCACAGCATCACAAATTGGGGGACTCAGAGGGTTAGTTCCTAGTATGAAGGAGATGGGGTGGCTGGGCGTTAAGTTCCCCGGGAAATGGCAGATTACATTCTATGGCAAGATCATCCCTAGGCTGG... | TTCTTCCAAGCCAGTGATTCTGGTTCTTGGACAAGGTGTTGAGGAACACTAGAAACAGAGGGGACTGTGACCTGGGGACTTTTTCTGCAGGAAGAAAACAGCCCAAAGATGAGAGTGATTCGCGTGGGTACCCGCAAGAGCCAGGTGGGTGCAGGAGCCGGGGTGGAGGAGGTTTGTCAGAACAGTTATGATGCTCACAGCATCACAAATTGGGGGACTCAGAGGGTTAGTTCCTAGTATGAAGGAGATGGGGTGGCTGGGCGTTAAGTTCCCCGGGAAATGGCAGATTACATTCTATGGCAAGATCATCCCTAGGCTGG... |
Task1_train_16802 | Gene HMBS (hydroxymethylbilane synthase) on Chromosome 11 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Acute intermittent porphyria | GGCTGCTGGGCTTAAACCCTCAGAGAGGCTGAAGGCAGCTCATAGGTGGGTTTTTTCAGGCTTCAGAAAAGGAGAGTGTCTGGTTCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAG... | GGCTGCTGGGCTTAAACCCTCAGAGAGGCTGAAGGCAGCTCATAGGTGGGTTTTTTCAGGCTTCAGAAAAGGAGAGTGTCTGGTTCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAG... |
Task1_train_16803 | A genomic change on Chromosome 11 affects HMBS (hydroxymethylbilane synthase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Acute intermittent porphyria | GCTGCTGGGCTTAAACCCTCAGAGAGGCTGAAGGCAGCTCATAGGTGGGTTTTTTCAGGCTTCAGAAAAGGAGAGTGTCTGGTTCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGT... | GCTGCTGGGCTTAAACCCTCAGAGAGGCTGAAGGCAGCTCATAGGTGGGTTTTTTCAGGCTTCAGAAAAGGAGAGTGTCTGGTTCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGT... |
Task1_train_16804 | The gene HMBS (hydroxymethylbilane synthase), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Acute intermittent porphyria | CTCAGAGAGGCTGAAGGCAGCTCATAGGTGGGTTTTTTCAGGCTTCAGAAAAGGAGAGTGTCTGGTTCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGTGGACCTGGTTGTTCACT... | CTCAGAGAGGCTGAAGGCAGCTCATAGGTGGGTTTTTTCAGGCTTCAGAAAAGGAGAGTGTCTGGTTCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGTGGACCTGGTTGTTCACT... |
Task1_train_16805 | Located on Chromosome 11, this mutation impacts HMBS (hydroxymethylbilane synthase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | TCAGAGAGGCTGAAGGCAGCTCATAGGTGGGTTTTTTCAGGCTTCAGAAAAGGAGAGTGTCTGGTTCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGTGGACCTGGTTGTTCACTC... | TCAGAGAGGCTGAAGGCAGCTCATAGGTGGGTTTTTTCAGGCTTCAGAAAAGGAGAGTGTCTGGTTCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGTGGACCTGGTTGTTCACTC... |
Task1_train_16806 | This variant affects gene HMBS (hydroxymethylbilane synthase) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | AAGGCAGCTCATAGGTGGGTTTTTTCAGGCTTCAGAAAAGGAGAGTGTCTGGTTCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGTGGACCTGGTTGTTCACTCCTTGAAGGACCT... | AAGGCAGCTCATAGGTGGGTTTTTTCAGGCTTCAGAAAAGGAGAGTGTCTGGTTCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGTGGACCTGGTTGTTCACTCCTTGAAGGACCT... |
Task1_train_16807 | Given this variant in gene HMBS (hydroxymethylbilane synthase) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGTGGACCTGGTTGTTCACTCCTTGAAGGACCTGCCCACTGTGCTTCCTCCTGGCTTCACCATCGGAGCCATCTGCAAGTAAGAGT... | TCTGAGCCATCTGGCTGCCTGGACTGCAAGAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGTGGACCTGGTTGTTCACTCCTTGAAGGACCTGCCCACTGTGCTTCCTCCTGGCTTCACCATCGGAGCCATCTGCAAGTAAGAGT... |
Task1_train_16808 | A variant on Chromosome 11 in gene HMBS (hydroxymethylbilane synthase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Acute intermittent porphyria | GAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGTGGACCTGGTTGTTCACTCCTTGAAGGACCTGCCCACTGTGCTTCCTCCTGGCTTCACCATCGGAGCCATCTGCAAGTAAGAGTCTTGCAAGTAAGGGGCTTGGGCAGGGGTA... | GAATGGCTGGGGGAGGGAGGGTAGGAGGGAGAGTAGGAGGGAGAGTGAGAGGAGAGCAGTTTTCATGCTCCTGAGATCTTGAGAAGGTGTGCTTCCTGAACTGCCCTAGGCTCCACCACTGAAGTAGAGGCAGGGGTGGGTGGAGAAGGGGTGAAGGCTGGCTGCTCATACCCTTTCTCTTTGCCCCCCTCTCCCATCTCTATAGAGTGGACCTGGTTGTTCACTCCTTGAAGGACCTGCCCACTGTGCTTCCTCCTGGCTTCACCATCGGAGCCATCTGCAAGTAAGAGTCTTGCAAGTAAGGGGCTTGGGCAGGGGTA... |
Task1_train_16809 | Gene HMBS (hydroxymethylbilane synthase), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AGATGCAGGGATGGGAGGAGGAGGAAAGGAACAGTGACTGCCTAGTGTTAAAATCTCATTGTAACTTCTCTCTGGGCAGTGTGGTGGGAACCAGCTCCCTGCGAAGAGCAGCCCAGCTGCAGAGAAAGTTCCCGCATCTGGAGTTCAGGAGTATTGTATCCTTTTAGAAGAGTGACGGATCCTTTTGGAAGAGTGACGGAGACAGCAGCCAAGGAAAAAGACAAGGTCTAGAGGGCTCTGGGAGTCCGGAGAGTGGAAGGGGCTTCCAGCAAGCAGCCCGTGGGGTCAGTGGCCTGTCTGTCTTTCCATGCACTCATCCG... | AGATGCAGGGATGGGAGGAGGAGGAAAGGAACAGTGACTGCCTAGTGTTAAAATCTCATTGTAACTTCTCTCTGGGCAGTGTGGTGGGAACCAGCTCCCTGCGAAGAGCAGCCCAGCTGCAGAGAAAGTTCCCGCATCTGGAGTTCAGGAGTATTGTATCCTTTTAGAAGAGTGACGGATCCTTTTGGAAGAGTGACGGAGACAGCAGCCAAGGAAAAAGACAAGGTCTAGAGGGCTCTGGGAGTCCGGAGAGTGGAAGGGGCTTCCAGCAAGCAGCCCGTGGGGTCAGTGGCCTGTCTGTCTTTCCATGCACTCATCCG... |
Task1_train_16810 | This sequence variant lies in HMBS (hydroxymethylbilane synthase) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | CATGCACTCATCCGTCCACTCATTTACAGTCTAATGTTTTCTTAGCCCCAGACAAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCA... | CATGCACTCATCCGTCCACTCATTTACAGTCTAATGTTTTCTTAGCCCCAGACAAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCA... |
Task1_train_16811 | Gene HMBS (hydroxymethylbilane synthase), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | CTCATCCGTCCACTCATTTACAGTCTAATGTTTTCTTAGCCCCAGACAAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCAGCCTCC... | CTCATCCGTCCACTCATTTACAGTCTAATGTTTTCTTAGCCCCAGACAAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCAGCCTCC... |
Task1_train_16812 | A genomic change on Chromosome 11 affects HMBS (hydroxymethylbilane synthase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Acute intermittent porphyria | ATTTACAGTCTAATGTTTTCTTAGCCCCAGACAAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCAGCCTCCTAAGTAGTTGGGATT... | ATTTACAGTCTAATGTTTTCTTAGCCCCAGACAAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCAGCCTCCTAAGTAGTTGGGATT... |
Task1_train_16813 | Consider this mutation in HMBS (hydroxymethylbilane synthase) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Acute intermittent porphyria | GTTTTCTTAGCCCCAGACAAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCAGCCTCCTAAGTAGTTGGGATTACAGGTGCCACCAC... | GTTTTCTTAGCCCCAGACAAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCAGCCTCCTAAGTAGTTGGGATTACAGGTGCCACCAC... |
Task1_train_16814 | This sequence change occurs on Chromosome 11, altering HMBS (hydroxymethylbilane synthase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Acute intermittent porphyria | TAGCCCCAGACAAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCAGCCTCCTAAGTAGTTGGGATTACAGGTGCCACCACACCTGGC... | TAGCCCCAGACAAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCAGCCTCCTAAGTAGTTGGGATTACAGGTGCCACCACACCTGGC... |
Task1_train_16815 | The gene HMBS (hydroxymethylbilane synthase) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Acute intermittent porphyria | AAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCAGCCTCCTAAGTAGTTGGGATTACAGGTGCCACCACACCTGGCTAATTTTTGTA... | AAGTGTTCAGAGTGCAAGGCATTGGGGATAATGGTGAGCAAGATAAACATTTCCCTGCATATGTAGAGTTTACGTCTTACTTAGGGATAATGCAGTTATACTGAACTGAATAGTGACTACTTCTGGAGGGATAGGGAGTACTTCCTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTCGCTCTGTTGCCCAGGTTGGAGTGCAGTGGCGCAATCTAGGCTCACTGCAACTTCTGCCTCCTGAGTTCAAGCAATCTTCCTGCCTCAGCCTCCTAAGTAGTTGGGATTACAGGTGCCACCACACCTGGCTAATTTTTGTA... |
Task1_train_16816 | This gene mutation involves HMBS (hydroxymethylbilane synthase) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CCCCGCACCCGGTCAGTACTTCCATTTTTATATGCTACTATATTGTCTTGACTTTTACAATGAATATGTAGTACATTTCATAAAACTAAATTTAAAAATAGTATGTGCTAAGTGCTCCAATAAGTGAAGTTGGGAATTTTCTGGAAACTTCTAGTTGGAACATCTAAACACAGAAGTCTGGGGTGTCAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGAC... | CCCCGCACCCGGTCAGTACTTCCATTTTTATATGCTACTATATTGTCTTGACTTTTACAATGAATATGTAGTACATTTCATAAAACTAAATTTAAAAATAGTATGTGCTAAGTGCTCCAATAAGTGAAGTTGGGAATTTTCTGGAAACTTCTAGTTGGAACATCTAAACACAGAAGTCTGGGGTGTCAGGGAAGGTTTCTCAGAGGTCTTGTAACCTTGGCAAGTTATTTAGCCTCCCTATGTCATTTTCCTTATCTGTAAAGTGGGGATAATAATACTACCTTCCTCACAGGGTTGTTGTGAAGATGAAATGAGCTGAC... |
Task1_train_16817 | A mutation in DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital myasthenic syndrome 13 | TTAGACCCCTTAAAAGTTTTCTTTTTTTTCTTTCTTTCTTTTTTTAATAGACCGGGTGTCACTGGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTCAGCTCACTGCAGCCTCGAACTCCTGGGTTCAAGGAATCCTCCCTGCTAAACCTCCCTCGTAGCTGGTACTACAAGTGCTCCACCACACTTGGCTAATTATTTTATTTTTGTAGAGACGGAGTCTCGTTTTGTTGCCCAGGCTGTCTTGAATTCCTGGGCTCAGGCAATCCTCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTG... | TTAGACCCCTTAAAAGTTTTCTTTTTTTTCTTTCTTTCTTTTTTTAATAGACCGGGTGTCACTGGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGTGATCTCAGCTCACTGCAGCCTCGAACTCCTGGGTTCAAGGAATCCTCCCTGCTAAACCTCCCTCGTAGCTGGTACTACAAGTGCTCCACCACACTTGGCTAATTATTTTATTTTTGTAGAGACGGAGTCTCGTTTTGTTGCCCAGGCTGTCTTGAATTCCTGGGCTCAGGCAATCCTCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTG... |
Task1_train_16818 | This variant affects gene DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; DPAGT1-congenital disorder of glycosylation | CAACTGAAGACGCAGAAAACTCCATAGAGGTATGCGCAGGTTTAGCTTCACCACCACAAGGTGGGTTATGATAAGGGCCATCTTTGCCATGTGTTCAGGTAGTTGTCCCCTTATCCACAGGCCTACTTACCAGTTGTGGTAGAGCAATCCCAAAGTGGTGAAAAAAAAGGGTATCATGAAGTAGAGGGAAAAGACATGATCATCCCGACAATCACCTTTGGAAGCAAGGAAGAAAGAAGGAAAAGTTAATACCCACTTCCTCTGCAAACCTTGGTCCTATTTTTGTCTAAGTTCTGTTTACAGCTGTTATCATCCACCTC... | CAACTGAAGACGCAGAAAACTCCATAGAGGTATGCGCAGGTTTAGCTTCACCACCACAAGGTGGGTTATGATAAGGGCCATCTTTGCCATGTGTTCAGGTAGTTGTCCCCTTATCCACAGGCCTACTTACCAGTTGTGGTAGAGCAATCCCAAAGTGGTGAAAAAAAAGGGTATCATGAAGTAGAGGGAAAAGACATGATCATCCCGACAATCACCTTTGGAAGCAAGGAAGAAAGAAGGAAAAGTTAATACCCACTTCCTCTGCAAACCTTGGTCCTATTTTTGTCTAAGTTCTGTTTACAGCTGTTATCATCCACCTC... |
Task1_train_16819 | Here is a variant affecting DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; DPAGT1-congenital disorder of glycosylation | CTTTGCCATGTGTTCAGGTAGTTGTCCCCTTATCCACAGGCCTACTTACCAGTTGTGGTAGAGCAATCCCAAAGTGGTGAAAAAAAAGGGTATCATGAAGTAGAGGGAAAAGACATGATCATCCCGACAATCACCTTTGGAAGCAAGGAAGAAAGAAGGAAAAGTTAATACCCACTTCCTCTGCAAACCTTGGTCCTATTTTTGTCTAAGTTCTGTTTACAGCTGTTATCATCCACCTCACCCAAGTCACTTTTAAGAACTCAATACTCCTTTTATGTCACCCAAGGCAATTCCCAATATTCCACCTCTTTCGTGCAGCC... | CTTTGCCATGTGTTCAGGTAGTTGTCCCCTTATCCACAGGCCTACTTACCAGTTGTGGTAGAGCAATCCCAAAGTGGTGAAAAAAAAGGGTATCATGAAGTAGAGGGAAAAGACATGATCATCCCGACAATCACCTTTGGAAGCAAGGAAGAAAGAAGGAAAAGTTAATACCCACTTCCTCTGCAAACCTTGGTCCTATTTTTGTCTAAGTTCTGTTTACAGCTGTTATCATCCACCTCACCCAAGTCACTTTTAAGAACTCAATACTCCTTTTATGTCACCCAAGGCAATTCCCAATATTCCACCTCTTTCGTGCAGCC... |
Task1_train_16820 | A variant has been detected on Chromosome 11 in DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital myasthenic syndrome 13 | TAAGTTTGGATACCAACTTTACTTCTTAGCTTTGTGACCTTGATCTTGATCATGACACATTTAACTTCTCTAAGCCTGTTTTCTCATCTGTAAAACAGGGCTGATTATAACATCTGCCACATAAAACCATTACAAGATTTAAATAAGATAGTGTTTAAAAAGTACTTAGCTTTAATAAACACTTGTTGATGTTCATCAGCCAAAGACCATCAGAAACACATCTATAGTTCAAAGCTAGGTTTAATGACTTGTTGTAAAAAGGGAGACTTCAGAAACCACACACCATTGGGAACCACGGAATGTCTCAGTAAGAGGGTGTT... | TAAGTTTGGATACCAACTTTACTTCTTAGCTTTGTGACCTTGATCTTGATCATGACACATTTAACTTCTCTAAGCCTGTTTTCTCATCTGTAAAACAGGGCTGATTATAACATCTGCCACATAAAACCATTACAAGATTTAAATAAGATAGTGTTTAAAAAGTACTTAGCTTTAATAAACACTTGTTGATGTTCATCAGCCAAAGACCATCAGAAACACATCTATAGTTCAAAGCTAGGTTTAATGACTTGTTGTAAAAAGGGAGACTTCAGAAACCACACACCATTGGGAACCACGGAATGTCTCAGTAAGAGGGTGTT... |
Task1_train_16821 | Mutation context: Chromosome 11, Gene DPAGT1, LOC126861360 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1| BRD4-independent group 4 enhancer GRCh37_chr11:118972216-118973415). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; DPAGT1-congenital disorder of glycosylation | GGCTTGTAGTAGCGTTTGTTTTGGGTATTTTGGGAGAGGGTGAAAGAAAGTAGTTTTGCTCTGGACTGGGTGCTGTTAGAAAGCAGGAGTAATTCATGGCCGGGTGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAGAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCG... | GGCTTGTAGTAGCGTTTGTTTTGGGTATTTTGGGAGAGGGTGAAAGAAAGTAGTTTTGCTCTGGACTGGGTGCTGTTAGAAAGCAGGAGTAATTCATGGCCGGGTGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAGAAATACAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCG... |
Task1_train_16822 | With a mutation on Chromosome 11 in gene CBL (Cbl proto-oncogene), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Juvenile myelomonocytic leukemia | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... |
Task1_train_16823 | This genomic variant is located on Chromosome 11, within the CBL (Cbl proto-oncogene) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; CBL-related disorder | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... |
Task1_train_16824 | This mutation is located in gene CBL (Cbl proto-oncogene) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; RASopathy | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... |
Task1_train_16825 | A mutation found in CBL (Cbl proto-oncogene) on Chromosome 11 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; See cases | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... |
Task1_train_16826 | An alteration has been detected in CBL (Cbl proto-oncogene) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Juvenile myelomonocytic leukemia | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... |
Task1_train_16827 | A variant on Chromosome 11 in gene CBL (Cbl proto-oncogene) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; CBL-related disorder | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... | TTGTGAGTACCTACTGCATACCATCTGTTAGAGTCTGGGAACTTAGGGGCTGTCCAACCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTT... |
Task1_train_16828 | The following genetic variant occurs in CBL (Cbl proto-oncogene) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; CBL-related disorder | CCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTG... | CCTCATCATTAATGACTTTATTCCAGGTTTCTTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTG... |
Task1_train_16829 | A change on Chromosome 11 affects gene CBL (Cbl proto-oncogene). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | TTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTT... | TTAAACTGCAGACTAAGATTCAGGAAAATATTAACAGATGATATTGATTTGACCTTCAGGTCCTGGAAGACTTTTGTTTTTCTTTTTTAGGGATTCCATGAGTGAAATTATTCTCTACCACTTCAGTTATTACCATAAATAAACTTTATCTTTCTTTTTTCCAAATGTTAACTTATTTTCAAGCCTGTGTTAGGTTTTAAAATATACCAATTAGCAGGAAATTTGACCAGTTATTTAACTAGTCGGCATTCAAGTGATTCAATGTTCCTAATAGCCATAGGCCTCAGTGGCCTTCATCTGCTTTCATCCTCACTTCGCTT... |
Task1_train_16830 | This variant lies on Chromosome 11 and affects the gene C1QTNF5, MFRP (C1q and TNF related 5| membrane frizzled-related protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Late-onset retinal degeneration | GATAGGCTGGGAAGACTATGTCATGGGGAGAGTGCATGCCAGGCATGGCTCTGTGAGCTCTCATCCCTTCTGATTTGTCCCCTCTCGCAACACATGGCTTTCGAAAAGCCTTCTATTTTTTCTGTTTTTTCCCAAATTAAGCCCTTGTAGAGAGGAATGTGAACCATCTCACCCCTTGAGTCAACCTTCCCAGCTCCTCCTCCGGGCCAGTCTTCCTGGGAGGGAGCATGGGGTTCCTCCTGCCTGGAGTCCAGTCTGCCCTCGGATCCCAGGAGGAGCTGGTGTGTGTCTCTGTGTGTCTTGGCATGGGGGTCTGGTGC... | GATAGGCTGGGAAGACTATGTCATGGGGAGAGTGCATGCCAGGCATGGCTCTGTGAGCTCTCATCCCTTCTGATTTGTCCCCTCTCGCAACACATGGCTTTCGAAAAGCCTTCTATTTTTTCTGTTTTTTCCCAAATTAAGCCCTTGTAGAGAGGAATGTGAACCATCTCACCCCTTGAGTCAACCTTCCCAGCTCCTCCTCCGGGCCAGTCTTCCTGGGAGGGAGCATGGGGTTCCTCCTGCCTGGAGTCCAGTCTGCCCTCGGATCCCAGGAGGAGCTGGTGTGTGTCTCTGTGTGTCTTGGCATGGGGGTCTGGTGC... |
Task1_train_16831 | Here is a variant affecting C1QTNF5, MFRP (C1q and TNF related 5| membrane frizzled-related protein) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinal dystrophy | GATAGGCTGGGAAGACTATGTCATGGGGAGAGTGCATGCCAGGCATGGCTCTGTGAGCTCTCATCCCTTCTGATTTGTCCCCTCTCGCAACACATGGCTTTCGAAAAGCCTTCTATTTTTTCTGTTTTTTCCCAAATTAAGCCCTTGTAGAGAGGAATGTGAACCATCTCACCCCTTGAGTCAACCTTCCCAGCTCCTCCTCCGGGCCAGTCTTCCTGGGAGGGAGCATGGGGTTCCTCCTGCCTGGAGTCCAGTCTGCCCTCGGATCCCAGGAGGAGCTGGTGTGTGTCTCTGTGTGTCTTGGCATGGGGGTCTGGTGC... | GATAGGCTGGGAAGACTATGTCATGGGGAGAGTGCATGCCAGGCATGGCTCTGTGAGCTCTCATCCCTTCTGATTTGTCCCCTCTCGCAACACATGGCTTTCGAAAAGCCTTCTATTTTTTCTGTTTTTTCCCAAATTAAGCCCTTGTAGAGAGGAATGTGAACCATCTCACCCCTTGAGTCAACCTTCCCAGCTCCTCCTCCGGGCCAGTCTTCCTGGGAGGGAGCATGGGGTTCCTCCTGCCTGGAGTCCAGTCTGCCCTCGGATCCCAGGAGGAGCTGGTGTGTGTCTCTGTGTGTCTTGGCATGGGGGTCTGGTGC... |
Task1_train_16832 | This sequence change occurs on Chromosome 11, altering C1QTNF5, MFRP (C1q and TNF related 5| membrane frizzled-related protein). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Isolated microphthalmia 5 | GGGCAAGGGTGCGTCAGACGGCGGAGGCACCCGGCTCTCGGAGCGCTTGGCGCTGAAGGCGGATCGCGGAGGCACCGAGCACTCCCCGGCAGGCCCGGTGGGCCCCGCGGGTCCCGCCTCTCCTCGCGGCCCGGGGTCCCCTCGAGGTCCCGGCAGTCCTGCGGGGTAAGCGGGGCGGCAGGGTGAGAGTAGCGGCGGCTCAGCCCGCAGCGGGGCGGCGACTCTAAGGTCACCGTACCCCTCCCCGCCCCTGCCTGAGCTTCGGCCAGCGCCTCCTCCCGCACGGGTACCTCCTCCACCCCTTCCCGCAGGGCAGATCT... | GGGCAAGGGTGCGTCAGACGGCGGAGGCACCCGGCTCTCGGAGCGCTTGGCGCTGAAGGCGGATCGCGGAGGCACCGAGCACTCCCCGGCAGGCCCGGTGGGCCCCGCGGGTCCCGCCTCTCCTCGCGGCCCGGGGTCCCCTCGAGGTCCCGGCAGTCCTGCGGGGTAAGCGGGGCGGCAGGGTGAGAGTAGCGGCGGCTCAGCCCGCAGCGGGGCGGCGACTCTAAGGTCACCGTACCCCTCCCCGCCCCTGCCTGAGCTTCGGCCAGCGCCTCCTCCCGCACGGGTACCTCCTCCACCCCTTCCCGCAGGGCAGATCT... |
Task1_train_16833 | With a mutation on Chromosome 11 in gene C1QTNF5, MFRP (C1q and TNF related 5| membrane frizzled-related protein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Nanophthalmos 2 | CGGACCGGGAAATAGCTGGGAAATAACTCGTGGTGTCGCCCGGCGGCCGGCCAAAGTTTAGGGGGAGAAAGGAGGGGGAGAGAGACTTGAGCTGGGCACAGAGAGGCAGAACTTCGAGAGACGGACACACAGGGCACCTCCTGTTCCCAGGGCCAGAGGAGAGGCAGGGCAGTGGCAGAGACCAAGGACCAGACCCCATTTCAGGGAGAAATACGCAGAGAGATGAGGGTGGAGAGTTCTAGAGGCAGACAGCCAGTTGGATCCCTAGGGCCTAGGACAGGGGCCTGCCACATGAATAGATGCTCAGTACATTTTTGTTG... | CGGACCGGGAAATAGCTGGGAAATAACTCGTGGTGTCGCCCGGCGGCCGGCCAAAGTTTAGGGGGAGAAAGGAGGGGGAGAGAGACTTGAGCTGGGCACAGAGAGGCAGAACTTCGAGAGACGGACACACAGGGCACCTCCTGTTCCCAGGGCCAGAGGAGAGGCAGGGCAGTGGCAGAGACCAAGGACCAGACCCCATTTCAGGGAGAAATACGCAGAGAGATGAGGGTGGAGAGTTCTAGAGGCAGACAGCCAGTTGGATCCCTAGGGCCTAGGACAGGGGCCTGCCACATGAATAGATGCTCAGTACATTTTTGTTG... |
Task1_train_16834 | A variant on Chromosome 11 in gene C1QTNF5, MFRP (C1q and TNF related 5| membrane frizzled-related protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Nanophthalmos 2 | GATGGTGCTACTGCACTCCCGCCTGGGCAACAAAGTGACACTCTGCCTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTT... | GATGGTGCTACTGCACTCCCGCCTGGGCAACAAAGTGACACTCTGCCTCAAAAAAAGAAGAAAAAGAAAAATCAATGAGGGTTTGTAGGGGAGGTGGAAGTGGCCCCTGCCGGTGGGGAGGAACTGGGGCAGGGAGAGGTTTGGGGAAGGACCTCCTGGGGACAGGGAGAGTGTGGGGTGAAGGTTTTGAGGTGAGAGCTGTCTTTAGGGTGATGGTGAAGAGACCCCCGGCCTGGAGTAGCAGAAGAAAATGAAGCTGGAGAATGGAATGTGCTGGGCCGACATGGAAGCCGGGGGTGGCAGACAGTGAGGATGGAGTT... |
Task1_train_16835 | A mutation in LOC126861365, TBCEL-TECTA, TECTA (P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353| TBCEL-TECTA readthrough| tectorin alpha), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 12 | CCGTGTGCCTGCTCAGCCAGAACCAGGTGCTGCACACCTTTGACGGCGCCTCCTACGCCTTCCCCTCCGAGTTCTCCTACACCCTCCTGAAGACCTGCCCTGAGCGCCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCGATGCAGGACCTGCTTGGCTGCGGGGACTTCGGATCCTGGTGGCCGACCAGGAGGTCAAGATAGGAGGCATCGGGGCTTCGGAAGTCAAGGTAAGGCTCCTTGCTCCTTTGGAGGGGTTCCTGGTACGTCCAGCCAGGAGGAGGAGCTCGCCATCCTCTTCAGGTTTGCCTTTC... | CCGTGTGCCTGCTCAGCCAGAACCAGGTGCTGCACACCTTTGACGGCGCCTCCTACGCCTTCCCCTCCGAGTTCTCCTACACCCTCCTGAAGACCTGCCCTGAGCGCCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCGATGCAGGACCTGCTTGGCTGCGGGGACTTCGGATCCTGGTGGCCGACCAGGAGGTCAAGATAGGAGGCATCGGGGCTTCGGAAGTCAAGGTAAGGCTCCTTGCTCCTTTGGAGGGGTTCCTGGTACGTCCAGCCAGGAGGAGGAGCTCGCCATCCTCTTCAGGTTTGCCTTTC... |
Task1_train_16836 | This mutation occurs in TBCEL-TECTA, TECTA (TBCEL-TECTA readthrough| tectorin alpha) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 12 | AATGATTGGCTTTCAGTCCACAGTGCAGAACTGTTGTATCGGTACTTGTGGGCAGAACTATTATTGCCATGCAATTTATTTCTCTGTAATGTCCTCCGTGTCCTTGGATTGTAAAACAGTATTAAGGAGTGATGGTATGTATACGAGCCAAAGAAAGTTTTAAAGGCGAGATCTTATTTTCCCAGAAGATGGTGGGGACTTCGCTGATCTTTAGATCGCACAGACTTGTAGGAGGCTTCTTCTGTGCTCCTGAGTTCTGTCCCTGCCTCTGGCAAATTGTGACCCATTAAAGTAATAGTGAGAAATAGGAAGTATGCCTA... | AATGATTGGCTTTCAGTCCACAGTGCAGAACTGTTGTATCGGTACTTGTGGGCAGAACTATTATTGCCATGCAATTTATTTCTCTGTAATGTCCTCCGTGTCCTTGGATTGTAAAACAGTATTAAGGAGTGATGGTATGTATACGAGCCAAAGAAAGTTTTAAAGGCGAGATCTTATTTTCCCAGAAGATGGTGGGGACTTCGCTGATCTTTAGATCGCACAGACTTGTAGGAGGCTTCTTCTGTGCTCCTGAGTTCTGTCCCTGCCTCTGGCAAATTGTGACCCATTAAAGTAATAGTGAGAAATAGGAAGTATGCCTA... |
Task1_train_16837 | The following genetic variant occurs in TBCEL-TECTA, TECTA (TBCEL-TECTA readthrough| tectorin alpha) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 12 | AGGGGCCCGGAAACAAGGGGTTGGCTAGGGGACTGTGTAGGGTTCTCCCAGATAGCCAAGTTGTAGGATAGATTGTTGCTTCATGGTGTTCCACACACAGTGACCAGGTTTTAAAGAATCAAAGTATGAAGATGTTTTAAGCCTGAGAATGGACACCATTTGGTTCTTGGCTGATGATTCCAAAGGCAGGAGACTTGCAGGGTCTCAGAACCAGGCAATGGCATGGGCGCTAATAGAGCTTCAGGTGATAAATTGTTAGATAAATCAGTTTTTACCCTGATTGCTTTCCAAAAAGCATCTCATTTGTTTTTAACAGCCCT... | AGGGGCCCGGAAACAAGGGGTTGGCTAGGGGACTGTGTAGGGTTCTCCCAGATAGCCAAGTTGTAGGATAGATTGTTGCTTCATGGTGTTCCACACACAGTGACCAGGTTTTAAAGAATCAAAGTATGAAGATGTTTTAAGCCTGAGAATGGACACCATTTGGTTCTTGGCTGATGATTCCAAAGGCAGGAGACTTGCAGGGTCTCAGAACCAGGCAATGGCATGGGCGCTAATAGAGCTTCAGGTGATAAATTGTTAGATAAATCAGTTTTTACCCTGATTGCTTTCCAAAAAGCATCTCATTTGTTTTTAACAGCCCT... |
Task1_train_16838 | This sequence change occurs on Chromosome 11, altering TBCEL-TECTA, TECTA (TBCEL-TECTA readthrough| tectorin alpha). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 12 | GACTTGTGTGGAAGTTTTTCCTTTGTCTCTTTTTACAAAATCAAGTAGAAGATCATGGGGGAAAGTGGACCAAGAATCGGAAAGGACTAAGAAGCCCTGGTGTGGGAGACCTCTCTGGGATCTTACTGGCCCTAATATGTTCATTATTGGCACGTATTTATTGTGCACAAACCATGAGGTGGTTGAGTGCTGGGATGTAGAGATAAATGATCTGGATGCTACTCTTTATATAAATATCAGTGCAAATCATTGTGTTATAGTGTAGTAGGTGCCTTAATCATGGTAAGATGACTGGGGTTAAGAGCATCTGTGCATTCAGT... | GACTTGTGTGGAAGTTTTTCCTTTGTCTCTTTTTACAAAATCAAGTAGAAGATCATGGGGGAAAGTGGACCAAGAATCGGAAAGGACTAAGAAGCCCTGGTGTGGGAGACCTCTCTGGGATCTTACTGGCCCTAATATGTTCATTATTGGCACGTATTTATTGTGCACAAACCATGAGGTGGTTGAGTGCTGGGATGTAGAGATAAATGATCTGGATGCTACTCTTTATATAAATATCAGTGCAAATCATTGTGTTATAGTGTAGTAGGTGCCTTAATCATGGTAAGATGACTGGGGTTAAGAGCATCTGTGCATTCAGT... |
Task1_train_16839 | This mutation occurs in TBCEL-TECTA, TECTA (TBCEL-TECTA readthrough| tectorin alpha) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 12 | GACTTGTGTGGAAGTTTTTCCTTTGTCTCTTTTTACAAAATCAAGTAGAAGATCATGGGGGAAAGTGGACCAAGAATCGGAAAGGACTAAGAAGCCCTGGTGTGGGAGACCTCTCTGGGATCTTACTGGCCCTAATATGTTCATTATTGGCACGTATTTATTGTGCACAAACCATGAGGTGGTTGAGTGCTGGGATGTAGAGATAAATGATCTGGATGCTACTCTTTATATAAATATCAGTGCAAATCATTGTGTTATAGTGTAGTAGGTGCCTTAATCATGGTAAGATGACTGGGGTTAAGAGCATCTGTGCATTCAGT... | GACTTGTGTGGAAGTTTTTCCTTTGTCTCTTTTTACAAAATCAAGTAGAAGATCATGGGGGAAAGTGGACCAAGAATCGGAAAGGACTAAGAAGCCCTGGTGTGGGAGACCTCTCTGGGATCTTACTGGCCCTAATATGTTCATTATTGGCACGTATTTATTGTGCACAAACCATGAGGTGGTTGAGTGCTGGGATGTAGAGATAAATGATCTGGATGCTACTCTTTATATAAATATCAGTGCAAATCATTGTGTTATAGTGTAGTAGGTGCCTTAATCATGGTAAGATGACTGGGGTTAAGAGCATCTGTGCATTCAGT... |
Task1_train_16840 | Consider a variant on Chromosome 11 in gene TBCEL-TECTA, TECTA (TBCEL-TECTA readthrough| tectorin alpha). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 12 | ACAGATAAAATGTTTTTCTCTGTTTCTGTAGTGCTTATTAGCCAGTGTTTATATGCTCAAGAGAAAATGTCAATCGGTGCCTTGCCATGTCAAAAAGCAAGCTCCTAGTGCTCACCTGGGAATCACTAGGGTTCTGCTGAGCTGAATCAGCAGGGGCTTCAGATGTGGTCTGGCCAGTGCTGCTGTCCCTTGGAGGCATGTTCTTCAGCCAGGCCACAATGTGCCAGATTTGGCATGTTCAGTATGCAGCTTACAGAAAAGTAGCTGCCACCAGCAAGGTGGGGGAAGACCTGGGTTTGTAAAGAAAAGACAGAAGACAC... | ACAGATAAAATGTTTTTCTCTGTTTCTGTAGTGCTTATTAGCCAGTGTTTATATGCTCAAGAGAAAATGTCAATCGGTGCCTTGCCATGTCAAAAAGCAAGCTCCTAGTGCTCACCTGGGAATCACTAGGGTTCTGCTGAGCTGAATCAGCAGGGGCTTCAGATGTGGTCTGGCCAGTGCTGCTGTCCCTTGGAGGCATGTTCTTCAGCCAGGCCACAATGTGCCAGATTTGGCATGTTCAGTATGCAGCTTACAGAAAAGTAGCTGCCACCAGCAAGGTGGGGGAAGACCTGGGTTTGTAAAGAAAAGACAGAAGACAC... |
Task1_train_16841 | Gene TBCEL-TECTA, TECTA (TBCEL-TECTA readthrough| tectorin alpha), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GCGACAGCTTCGAGTGTTTGCACATTTATTGTCCTGAAAACCAACTTCAGGGTGATCTGCTTAGAAATATGCTCCTTAGAAAACAGCAATAGGCATGTGCAACATGAAAGACAGCAAGAGCAGTCATCATTTGATGCTAAGTGATTGACGGAGTTGAAAGAGTGATGTGTTTTTTCCTTGGTTTGGGATGCCTACTGTGGTTCTTTCTCCTGTATATGGACAGGATTGTGTCTTCTTTTCTGCTTCTATTGCTCTTTGAGGCAAATACATATAGGCTTAGCTATTTCAGGGGGTAAGGGAGTCCCGAACCTCATTTAACA... | GCGACAGCTTCGAGTGTTTGCACATTTATTGTCCTGAAAACCAACTTCAGGGTGATCTGCTTAGAAATATGCTCCTTAGAAAACAGCAATAGGCATGTGCAACATGAAAGACAGCAAGAGCAGTCATCATTTGATGCTAAGTGATTGACGGAGTTGAAAGAGTGATGTGTTTTTTCCTTGGTTTGGGATGCCTACTGTGGTTCTTTCTCCTGTATATGGACAGGATTGTGTCTTCTTTTCTGCTTCTATTGCTCTTTGAGGCAAATACATATAGGCTTAGCTATTTCAGGGGGTAAGGGAGTCCCGAACCTCATTTAACA... |
Task1_train_16842 | Here is a variant affecting SC5D (sterol-C5-desaturase) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Lathosterolosis | GGAAGATAGGTCAATTGAGATTAAACAGCTGGGAAGAGAAAGAAAATGAAGAAATACAAACAGAGACTTGGGGACACTGTCATGCATTTCCACATAAGCATAATGAGAGTCCTAAAAGGAGAAGAGAGAAAGTCATAGAAAGTTTAAGAAAGAGTGGCCCCAGACTCACCAAATTTGATGAAAAACTTTACACATCCTAGAAGTTCAACAGTATAGGGTTGGGGTTTATTTTTGGGGTGCTGAAAATGTTCTGAAACTTGATAGTGGTAATGATTGCATAGCTCTGAGAATGCTAAAAAACTAGTCAATCATATACTTTA... | GGAAGATAGGTCAATTGAGATTAAACAGCTGGGAAGAGAAAGAAAATGAAGAAATACAAACAGAGACTTGGGGACACTGTCATGCATTTCCACATAAGCATAATGAGAGTCCTAAAAGGAGAAGAGAGAAAGTCATAGAAAGTTTAAGAAAGAGTGGCCCCAGACTCACCAAATTTGATGAAAAACTTTACACATCCTAGAAGTTCAACAGTATAGGGTTGGGGTTTATTTTTGGGGTGCTGAAAATGTTCTGAAACTTGATAGTGGTAATGATTGCATAGCTCTGAGAATGCTAAAAAACTAGTCAATCATATACTTTA... |
Task1_train_16843 | Given a variant located on Chromosome 11 and affecting SC5D (sterol-C5-desaturase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lathosterolosis | AAATACAAACAGAGACTTGGGGACACTGTCATGCATTTCCACATAAGCATAATGAGAGTCCTAAAAGGAGAAGAGAGAAAGTCATAGAAAGTTTAAGAAAGAGTGGCCCCAGACTCACCAAATTTGATGAAAAACTTTACACATCCTAGAAGTTCAACAGTATAGGGTTGGGGTTTATTTTTGGGGTGCTGAAAATGTTCTGAAACTTGATAGTGGTAATGATTGCATAGCTCTGAGAATGCTAAAAAACTAGTCAATCATATACTTTAGTGAATTTTATGGTATGTGAATTATATCTCAATAAACCTGTTTCTTTAAAA... | AAATACAAACAGAGACTTGGGGACACTGTCATGCATTTCCACATAAGCATAATGAGAGTCCTAAAAGGAGAAGAGAGAAAGTCATAGAAAGTTTAAGAAAGAGTGGCCCCAGACTCACCAAATTTGATGAAAAACTTTACACATCCTAGAAGTTCAACAGTATAGGGTTGGGGTTTATTTTTGGGGTGCTGAAAATGTTCTGAAACTTGATAGTGGTAATGATTGCATAGCTCTGAGAATGCTAAAAAACTAGTCAATCATATACTTTAGTGAATTTTATGGTATGTGAATTATATCTCAATAAACCTGTTTCTTTAAAA... |
Task1_train_16844 | Given a variant located on Chromosome 11 and affecting SC5D (sterol-C5-desaturase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Lathosterolosis | CATAGTACTGTGCGGATATTCATAAGTTATGTAAATGATACCTAATTGTTAGACCTTCAGATTGTTACTCTTTTTTGTATTATAAACAGCCCTGTAGTGAGTAAACTTTTGTGAAATTCTGAAACTTTTTCAAGATACATTTCTAGGATCTAGTATGTAAAAAGCAAGAATCATAGTATTTATTGAAGGCTGATATGTGTCAGTGACAGTTCTCAGCTCTTCACAAGAATCAGTCCATTGTTTTCCTACAATTCTATGAGATAGGTACTATCACTGTGCTCCTTTTATAGGTGAGTCAATGAGGTGTACAGAGAGTTTCA... | CATAGTACTGTGCGGATATTCATAAGTTATGTAAATGATACCTAATTGTTAGACCTTCAGATTGTTACTCTTTTTTGTATTATAAACAGCCCTGTAGTGAGTAAACTTTTGTGAAATTCTGAAACTTTTTCAAGATACATTTCTAGGATCTAGTATGTAAAAAGCAAGAATCATAGTATTTATTGAAGGCTGATATGTGTCAGTGACAGTTCTCAGCTCTTCACAAGAATCAGTCCATTGTTTTCCTACAATTCTATGAGATAGGTACTATCACTGTGCTCCTTTTATAGGTGAGTCAATGAGGTGTACAGAGAGTTTCA... |
Task1_train_16845 | This gene mutation involves SC5D (sterol-C5-desaturase) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Lathosterolosis | AGTATGTAAAAAGCAAGAATCATAGTATTTATTGAAGGCTGATATGTGTCAGTGACAGTTCTCAGCTCTTCACAAGAATCAGTCCATTGTTTTCCTACAATTCTATGAGATAGGTACTATCACTGTGCTCCTTTTATAGGTGAGTCAATGAGGTGTACAGAGAGTTTCAGTAACGAGTTGGTGGTAGATCTGAGACTTGGACTCAGGCTTGCAGGCACCAGCACCCCCACACTTTAAGTAAGAAGTTAGTTATTGCCGGGCGCGGTGGCTCAATCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGAGGATCACGAG... | AGTATGTAAAAAGCAAGAATCATAGTATTTATTGAAGGCTGATATGTGTCAGTGACAGTTCTCAGCTCTTCACAAGAATCAGTCCATTGTTTTCCTACAATTCTATGAGATAGGTACTATCACTGTGCTCCTTTTATAGGTGAGTCAATGAGGTGTACAGAGAGTTTCAGTAACGAGTTGGTGGTAGATCTGAGACTTGGACTCAGGCTTGCAGGCACCAGCACCCCCACACTTTAAGTAAGAAGTTAGTTATTGCCGGGCGCGGTGGCTCAATCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGAGGATCACGAG... |
Task1_train_16846 | The gene SC5D (sterol-C5-desaturase) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Lathosterolosis | TATGTAAAAAGCAAGAATCATAGTATTTATTGAAGGCTGATATGTGTCAGTGACAGTTCTCAGCTCTTCACAAGAATCAGTCCATTGTTTTCCTACAATTCTATGAGATAGGTACTATCACTGTGCTCCTTTTATAGGTGAGTCAATGAGGTGTACAGAGAGTTTCAGTAACGAGTTGGTGGTAGATCTGAGACTTGGACTCAGGCTTGCAGGCACCAGCACCCCCACACTTTAAGTAAGAAGTTAGTTATTGCCGGGCGCGGTGGCTCAATCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGAGGATCACGAGGT... | TATGTAAAAAGCAAGAATCATAGTATTTATTGAAGGCTGATATGTGTCAGTGACAGTTCTCAGCTCTTCACAAGAATCAGTCCATTGTTTTCCTACAATTCTATGAGATAGGTACTATCACTGTGCTCCTTTTATAGGTGAGTCAATGAGGTGTACAGAGAGTTTCAGTAACGAGTTGGTGGTAGATCTGAGACTTGGACTCAGGCTTGCAGGCACCAGCACCCCCACACTTTAAGTAAGAAGTTAGTTATTGCCGGGCGCGGTGGCTCAATCCTGTAATCCCAGCACTTTGGGAGACCGAGGTAGGAGGATCACGAGGT... |
Task1_train_16847 | An alteration has been detected in CLMP (CXADR like cell adhesion molecule) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Congenital short bowel syndrome, autosomal recessive | AGGAAAGTCCTTAGAGGCATCTGATTTGAGGGGAAATCCACAATTGCTCCATTATATATTTCTAATGTTTGTCAACAATCCTCATAACATCATGAAGATGGAAAGCTCTTCACAATCCTTTGTCACAAATTTTTGTCTCCTTTCATAGTTATTTTGGGCTCAATACAAATAGTGAGATTAGTATAGAGTGGGAGAAACTCATTCACTCTTCTCCATCTCCCACTATTTCAACTCCCCTTGAAATTAATATCCAAACCTTATGACAAATGAAGTTAAGTCAGAATAGAAGACACATGTTTCCTTTTTTGGAGTTTCTTAGA... | AGGAAAGTCCTTAGAGGCATCTGATTTGAGGGGAAATCCACAATTGCTCCATTATATATTTCTAATGTTTGTCAACAATCCTCATAACATCATGAAGATGGAAAGCTCTTCACAATCCTTTGTCACAAATTTTTGTCTCCTTTCATAGTTATTTTGGGCTCAATACAAATAGTGAGATTAGTATAGAGTGGGAGAAACTCATTCACTCTTCTCCATCTCCCACTATTTCAACTCCCCTTGAAATTAATATCCAAACCTTATGACAAATGAAGTTAAGTCAGAATAGAAGACACATGTTTCCTTTTTTGGAGTTTCTTAGA... |
Task1_train_16848 | This mutation occurs in CLMP (CXADR like cell adhesion molecule) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Congenital short bowel syndrome, autosomal recessive | TGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCGCCACGCTGGGCTGGTTTTTTTTGTGTGTGTTTTTTTTTTTGAGAGGGAGTCTCAGTCTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGAGATTTTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTACAGGCGCCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAAACGGGGT... | TGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGAACTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCGCCACGCTGGGCTGGTTTTTTTTGTGTGTGTTTTTTTTTTTGAGAGGGAGTCTCAGTCTGTCACCCAGACTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAGGAGATTTTCCTGCCTCAGCTTCCTGAGTAGCTGAGATTACAGGCGCCCACCACACCCAGCTAATTTTTGTATTTTAGTAGAAACGGGGT... |
Task1_train_16849 | Here is a variant affecting SCN3B (sodium voltage-gated channel beta subunit 3) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Atrial fibrillation, familial, 16 | ATAGGTGATTTTTATATTTTGATTTCTATCAACAATTTTGTGGAATATTCTTCCTTGTCCTAATAGTATTTTTGTAGATTCTCTTAGGTATCCTATGTAAATAGTAGGTATAGATAATGATAATTTAGTTTCTTCCTTTCCAAGTCTTTTTCTTCCTTGTATTTACTTGGTCTTCACCTAGGATTTCCAACACAATATTGATAGAAACAGGGAGAGGCAGTCTCCTTGATATGTCCCTGATATTACAGGCACTTGAGGTTTCAACACATAGATGATATTTGCTGTAGGGTCTCTTAGTAGCTGCCATTTATCACTTTAAA... | ATAGGTGATTTTTATATTTTGATTTCTATCAACAATTTTGTGGAATATTCTTCCTTGTCCTAATAGTATTTTTGTAGATTCTCTTAGGTATCCTATGTAAATAGTAGGTATAGATAATGATAATTTAGTTTCTTCCTTTCCAAGTCTTTTTCTTCCTTGTATTTACTTGGTCTTCACCTAGGATTTCCAACACAATATTGATAGAAACAGGGAGAGGCAGTCTCCTTGATATGTCCCTGATATTACAGGCACTTGAGGTTTCAACACATAGATGATATTTGCTGTAGGGTCTCTTAGTAGCTGCCATTTATCACTTTAAA... |
Task1_train_16850 | A variant found in Chromosome 11 affects SCN3B (sodium voltage-gated channel beta subunit 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Atrial fibrillation, familial, 16 | AGTTTGGTGAGACAACACTCAGTTTGCAAAGAAACTGAGAATGGGCAAAGATGGGCATACTGTGTACACTTCTTCCAAAGTTTTTTGGGGTCGGGGAGGGGATGGGCACTCTGTCAATTCTAGCAATATTCTTCAAAGATTTCTCTACCATTCATCTGTGGAGCTGAAAAGGATGTTAGATATCACCCGTGCCAACTTCCAAACATTACACAGAAGGAACCAGATAGCACTTTAAGGTTGTTATATAGTAAGCTAGTGGCAAAGCTGAGACTCCAATGCAGGTTGCACAAGTTCTAGTTAAAAGATTCTTGGATGATAGC... | AGTTTGGTGAGACAACACTCAGTTTGCAAAGAAACTGAGAATGGGCAAAGATGGGCATACTGTGTACACTTCTTCCAAAGTTTTTTGGGGTCGGGGAGGGGATGGGCACTCTGTCAATTCTAGCAATATTCTTCAAAGATTTCTCTACCATTCATCTGTGGAGCTGAAAAGGATGTTAGATATCACCCGTGCCAACTTCCAAACATTACACAGAAGGAACCAGATAGCACTTTAAGGTTGTTATATAGTAAGCTAGTGGCAAAGCTGAGACTCCAATGCAGGTTGCACAAGTTCTAGTTAAAAGATTCTTGGATGATAGC... |
Task1_train_16851 | A mutation on Chromosome 11 affecting HEPACAM (hepatic and glial cell adhesion molecule) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 2A | GTGTCCAAAGACCTAGGTTTGAAACCTAGATCTGCCACTCATTGACTTGTTTAATCCTGAGCAAGTCATTTAATCTCACAGCCTTGTTTTTTCTAATCTCTAAAATGTGCATGACACAAATATTTCACAGGGTTATTCTGAGTACTATAAAGCAGGGGTCCCCACCCCCAGGCCGAGGACTGGTACTGGTCCATAGCCTGTTAGGAAGGGAGCGGCAGAGCAGGAGGTGAGCGGTAGGCCAGAGAGCAAAGCTTCATATGTATTTACAGACATGCCCCATGGCTTGCATTATCGCCTGAGCTCCGCCTCCTGTCAGATTC... | GTGTCCAAAGACCTAGGTTTGAAACCTAGATCTGCCACTCATTGACTTGTTTAATCCTGAGCAAGTCATTTAATCTCACAGCCTTGTTTTTTCTAATCTCTAAAATGTGCATGACACAAATATTTCACAGGGTTATTCTGAGTACTATAAAGCAGGGGTCCCCACCCCCAGGCCGAGGACTGGTACTGGTCCATAGCCTGTTAGGAAGGGAGCGGCAGAGCAGGAGGTGAGCGGTAGGCCAGAGAGCAAAGCTTCATATGTATTTACAGACATGCCCCATGGCTTGCATTATCGCCTGAGCTCCGCCTCCTGTCAGATTC... |
Task1_train_16852 | Here’s a variant in HEPACAM (hepatic and glial cell adhesion molecule) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | ACTTGTTTAATCCTGAGCAAGTCATTTAATCTCACAGCCTTGTTTTTTCTAATCTCTAAAATGTGCATGACACAAATATTTCACAGGGTTATTCTGAGTACTATAAAGCAGGGGTCCCCACCCCCAGGCCGAGGACTGGTACTGGTCCATAGCCTGTTAGGAAGGGAGCGGCAGAGCAGGAGGTGAGCGGTAGGCCAGAGAGCAAAGCTTCATATGTATTTACAGACATGCCCCATGGCTTGCATTATCGCCTGAGCTCCGCCTCCTGTCAGATTCGTGGCTGCATTCGATTCTCGATTCTCGTAGGAGCACACACCCTA... | ACTTGTTTAATCCTGAGCAAGTCATTTAATCTCACAGCCTTGTTTTTTCTAATCTCTAAAATGTGCATGACACAAATATTTCACAGGGTTATTCTGAGTACTATAAAGCAGGGGTCCCCACCCCCAGGCCGAGGACTGGTACTGGTCCATAGCCTGTTAGGAAGGGAGCGGCAGAGCAGGAGGTGAGCGGTAGGCCAGAGAGCAAAGCTTCATATGTATTTACAGACATGCCCCATGGCTTGCATTATCGCCTGAGCTCCGCCTCCTGTCAGATTCGTGGCTGCATTCGATTCTCGATTCTCGTAGGAGCACACACCCTA... |
Task1_train_16853 | This is a variant in HEPACAM (hepatic and glial cell adhesion molecule), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TTTCCTGTGAATCAATTCAGCCCCACTATGAGCCGAATTATTGAATGTGAGTAGAAGATCCAGTGGGGACACAGGGAGGGATCTGATGGCCATAAAAGAGGCCTTGTGACAGGAAGATGGGCTGGGTACAGTTCATGAGCTTTGGAAGGAATCACATCTAGGTTTGCACCTTGAGTCTGTCACTAGCGTTGTGACTGTGGGCAAGTCATTTAACCAATCCGAGTCTCAGTGTCATTATCTGTAAACTACAGATAATCATACTTAAAAGGTAGCAGGCTAACCACAGCCACAGTGCCTGGTCCCAAAAAAGGTGGTTGGCC... | TTTCCTGTGAATCAATTCAGCCCCACTATGAGCCGAATTATTGAATGTGAGTAGAAGATCCAGTGGGGACACAGGGAGGGATCTGATGGCCATAAAAGAGGCCTTGTGACAGGAAGATGGGCTGGGTACAGTTCATGAGCTTTGGAAGGAATCACATCTAGGTTTGCACCTTGAGTCTGTCACTAGCGTTGTGACTGTGGGCAAGTCATTTAACCAATCCGAGTCTCAGTGTCATTATCTGTAAACTACAGATAATCATACTTAAAAGGTAGCAGGCTAACCACAGCCACAGTGCCTGGTCCCAAAAAAGGTGGTTGGCC... |
Task1_train_16854 | An alteration has been detected in HEPACAM (hepatic and glial cell adhesion molecule) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 2A | AGCCCCACTATGAGCCGAATTATTGAATGTGAGTAGAAGATCCAGTGGGGACACAGGGAGGGATCTGATGGCCATAAAAGAGGCCTTGTGACAGGAAGATGGGCTGGGTACAGTTCATGAGCTTTGGAAGGAATCACATCTAGGTTTGCACCTTGAGTCTGTCACTAGCGTTGTGACTGTGGGCAAGTCATTTAACCAATCCGAGTCTCAGTGTCATTATCTGTAAACTACAGATAATCATACTTAAAAGGTAGCAGGCTAACCACAGCCACAGTGCCTGGTCCCAAAAAAGGTGGTTGGCCAGTGAAAAAACCTATTGT... | AGCCCCACTATGAGCCGAATTATTGAATGTGAGTAGAAGATCCAGTGGGGACACAGGGAGGGATCTGATGGCCATAAAAGAGGCCTTGTGACAGGAAGATGGGCTGGGTACAGTTCATGAGCTTTGGAAGGAATCACATCTAGGTTTGCACCTTGAGTCTGTCACTAGCGTTGTGACTGTGGGCAAGTCATTTAACCAATCCGAGTCTCAGTGTCATTATCTGTAAACTACAGATAATCATACTTAAAAGGTAGCAGGCTAACCACAGCCACAGTGCCTGGTCCCAAAAAAGGTGGTTGGCCAGTGAAAAAACCTATTGT... |
Task1_train_16855 | A variant found in Chromosome 11 affects HEPACAM (hepatic and glial cell adhesion molecule). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 2A | ATGAGCCGAATTATTGAATGTGAGTAGAAGATCCAGTGGGGACACAGGGAGGGATCTGATGGCCATAAAAGAGGCCTTGTGACAGGAAGATGGGCTGGGTACAGTTCATGAGCTTTGGAAGGAATCACATCTAGGTTTGCACCTTGAGTCTGTCACTAGCGTTGTGACTGTGGGCAAGTCATTTAACCAATCCGAGTCTCAGTGTCATTATCTGTAAACTACAGATAATCATACTTAAAAGGTAGCAGGCTAACCACAGCCACAGTGCCTGGTCCCAAAAAAGGTGGTTGGCCAGTGAAAAAACCTATTGTTACTGGTGC... | ATGAGCCGAATTATTGAATGTGAGTAGAAGATCCAGTGGGGACACAGGGAGGGATCTGATGGCCATAAAAGAGGCCTTGTGACAGGAAGATGGGCTGGGTACAGTTCATGAGCTTTGGAAGGAATCACATCTAGGTTTGCACCTTGAGTCTGTCACTAGCGTTGTGACTGTGGGCAAGTCATTTAACCAATCCGAGTCTCAGTGTCATTATCTGTAAACTACAGATAATCATACTTAAAAGGTAGCAGGCTAACCACAGCCACAGTGCCTGGTCCCAAAAAAGGTGGTTGGCCAGTGAAAAAACCTATTGTTACTGGTGC... |
Task1_train_16856 | Assess the clinical impact of this variant on gene HEPACAM (hepatic and glial cell adhesion molecule), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability | ATGAGCCGAATTATTGAATGTGAGTAGAAGATCCAGTGGGGACACAGGGAGGGATCTGATGGCCATAAAAGAGGCCTTGTGACAGGAAGATGGGCTGGGTACAGTTCATGAGCTTTGGAAGGAATCACATCTAGGTTTGCACCTTGAGTCTGTCACTAGCGTTGTGACTGTGGGCAAGTCATTTAACCAATCCGAGTCTCAGTGTCATTATCTGTAAACTACAGATAATCATACTTAAAAGGTAGCAGGCTAACCACAGCCACAGTGCCTGGTCCCAAAAAAGGTGGTTGGCCAGTGAAAAAACCTATTGTTACTGGTGC... | ATGAGCCGAATTATTGAATGTGAGTAGAAGATCCAGTGGGGACACAGGGAGGGATCTGATGGCCATAAAAGAGGCCTTGTGACAGGAAGATGGGCTGGGTACAGTTCATGAGCTTTGGAAGGAATCACATCTAGGTTTGCACCTTGAGTCTGTCACTAGCGTTGTGACTGTGGGCAAGTCATTTAACCAATCCGAGTCTCAGTGTCATTATCTGTAAACTACAGATAATCATACTTAAAAGGTAGCAGGCTAACCACAGCCACAGTGCCTGGTCCCAAAAAAGGTGGTTGGCCAGTGAAAAAACCTATTGTTACTGGTGC... |
Task1_train_16857 | Consider this mutation in HEPACAM (hepatic and glial cell adhesion molecule) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; HEPACAM-related disorder | ATGAGCCGAATTATTGAATGTGAGTAGAAGATCCAGTGGGGACACAGGGAGGGATCTGATGGCCATAAAAGAGGCCTTGTGACAGGAAGATGGGCTGGGTACAGTTCATGAGCTTTGGAAGGAATCACATCTAGGTTTGCACCTTGAGTCTGTCACTAGCGTTGTGACTGTGGGCAAGTCATTTAACCAATCCGAGTCTCAGTGTCATTATCTGTAAACTACAGATAATCATACTTAAAAGGTAGCAGGCTAACCACAGCCACAGTGCCTGGTCCCAAAAAAGGTGGTTGGCCAGTGAAAAAACCTATTGTTACTGGTGC... | ATGAGCCGAATTATTGAATGTGAGTAGAAGATCCAGTGGGGACACAGGGAGGGATCTGATGGCCATAAAAGAGGCCTTGTGACAGGAAGATGGGCTGGGTACAGTTCATGAGCTTTGGAAGGAATCACATCTAGGTTTGCACCTTGAGTCTGTCACTAGCGTTGTGACTGTGGGCAAGTCATTTAACCAATCCGAGTCTCAGTGTCATTATCTGTAAACTACAGATAATCATACTTAAAAGGTAGCAGGCTAACCACAGCCACAGTGCCTGGTCCCAAAAAAGGTGGTTGGCCAGTGAAAAAACCTATTGTTACTGGTGC... |
Task1_train_16858 | This mutation is located in gene TMEM218 (transmembrane protein 218) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Meckel syndrome, type 4 | CAGAGATTACCCCAACAGTCAACTTACAACAAAGGTCAGTTTGATAAAACAGCTTTAACATAACTTTGACCTTGGCTCCGGTACTGAACAAGTCTCTTGCGGGCCACATGTTTGCTCGTTCGACACGTTTCACTTTTTAATTAGCCAATTAGCAGGCCTTGGGTGCAGAAGGCCCAGGCCATGTATTATTGATACAGCATTGAGCCAGGCTGCTGCAGAGGCCCGCTCTCAAAACCTGAAAATGAGAACTCCAATTCTGCCGGCCATGCTGACAAAAGTATTTTGCTCAAACCCCATTCTTGTCTCCTGGGTCTGAAACT... | CAGAGATTACCCCAACAGTCAACTTACAACAAAGGTCAGTTTGATAAAACAGCTTTAACATAACTTTGACCTTGGCTCCGGTACTGAACAAGTCTCTTGCGGGCCACATGTTTGCTCGTTCGACACGTTTCACTTTTTAATTAGCCAATTAGCAGGCCTTGGGTGCAGAAGGCCCAGGCCATGTATTATTGATACAGCATTGAGCCAGGCTGCTGCAGAGGCCCGCTCTCAAAACCTGAAAATGAGAACTCCAATTCTGCCGGCCATGCTGACAAAAGTATTTTGCTCAAACCCCATTCTTGTCTCCTGGGTCTGAAACT... |
Task1_train_16859 | The gene TMEM218 (transmembrane protein 218) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Joubert syndrome 39 | TTGTCTAGTGTCAAAATGCTAACCCATGAGCTCTCTGGGACTGCCCTGAATATTCTGTTAAGTTCTCAACACTGAAGATTTTGAAGACGGACCTCAGCTTGAATCCCTGTTCTGCCTCTTGCTATGTGACCTTGGGCAAGTTACCTTAACCTCTGACAGACTCAGTGTTCTTACCTATAAAATGGGGATAATAATGGTACCTATGTCATACTACTTAGGGCTGTCCTGAGGTTTAAATGAGACAGTGCAAACAAAGTGTTTGGCACAGGACCTGGCACACGGAAATCCCTTAAAGAATGTTAGCTATTTTCATGACTATC... | TTGTCTAGTGTCAAAATGCTAACCCATGAGCTCTCTGGGACTGCCCTGAATATTCTGTTAAGTTCTCAACACTGAAGATTTTGAAGACGGACCTCAGCTTGAATCCCTGTTCTGCCTCTTGCTATGTGACCTTGGGCAAGTTACCTTAACCTCTGACAGACTCAGTGTTCTTACCTATAAAATGGGGATAATAATGGTACCTATGTCATACTACTTAGGGCTGTCCTGAGGTTTAAATGAGACAGTGCAAACAAAGTGTTTGGCACAGGACCTGGCACACGGAAATCCCTTAAAGAATGTTAGCTATTTTCATGACTATC... |
Task1_train_16860 | A variant has been detected on Chromosome 11 in TMEM218 (transmembrane protein 218). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial aplasia of the vermis | TTGTCTAGTGTCAAAATGCTAACCCATGAGCTCTCTGGGACTGCCCTGAATATTCTGTTAAGTTCTCAACACTGAAGATTTTGAAGACGGACCTCAGCTTGAATCCCTGTTCTGCCTCTTGCTATGTGACCTTGGGCAAGTTACCTTAACCTCTGACAGACTCAGTGTTCTTACCTATAAAATGGGGATAATAATGGTACCTATGTCATACTACTTAGGGCTGTCCTGAGGTTTAAATGAGACAGTGCAAACAAAGTGTTTGGCACAGGACCTGGCACACGGAAATCCCTTAAAGAATGTTAGCTATTTTCATGACTATC... | TTGTCTAGTGTCAAAATGCTAACCCATGAGCTCTCTGGGACTGCCCTGAATATTCTGTTAAGTTCTCAACACTGAAGATTTTGAAGACGGACCTCAGCTTGAATCCCTGTTCTGCCTCTTGCTATGTGACCTTGGGCAAGTTACCTTAACCTCTGACAGACTCAGTGTTCTTACCTATAAAATGGGGATAATAATGGTACCTATGTCATACTACTTAGGGCTGTCCTGAGGTTTAAATGAGACAGTGCAAACAAAGTGTTTGGCACAGGACCTGGCACACGGAAATCCCTTAAAGAATGTTAGCTATTTTCATGACTATC... |
Task1_train_16861 | A variant was discovered on Chromosome 11, affecting STT3A (STT3 oligosaccharyltransferase complex catalytic subunit A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital disorder of glycosylation, type Iw, autosomal dominant | ACGTCTTAAAAAAAACAACAACAGGCCTGGAATTGTAGTTCACATCAGTAATGCCAGCACTTTGGAAGGATGAGGTGGGAGGATTGCTTGAGGCGAGGAGTTCAAGACCAGGCTGGGCAATATAGTGAGACCCCTGTCTCTACTTAAAAAAAAATAATAATAATAATGCGCGCACACACCCATACCCACACACACCCATACCCACACACACACACATACACACATATAAAATAAATAAAATTAGCTGGGCATGGTAGTGTGCACCTTTAGTCCCAGCTACTTGGAAGGCTGAGGTGGAAGGATTACTTGAGCCCGGGAGT... | ACGTCTTAAAAAAAACAACAACAGGCCTGGAATTGTAGTTCACATCAGTAATGCCAGCACTTTGGAAGGATGAGGTGGGAGGATTGCTTGAGGCGAGGAGTTCAAGACCAGGCTGGGCAATATAGTGAGACCCCTGTCTCTACTTAAAAAAAAATAATAATAATAATGCGCGCACACACCCATACCCACACACACCCATACCCACACACACACACATACACACATATAAAATAAATAAAATTAGCTGGGCATGGTAGTGTGCACCTTTAGTCCCAGCTACTTGGAAGGCTGAGGTGGAAGGATTACTTGAGCCCGGGAGT... |
Task1_train_16862 | This variant lies on Chromosome 11 and affects the gene STT3A (STT3 oligosaccharyltransferase complex catalytic subunit A). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TTTTGATTAGAGGTTTGTTGAATTTATGGATGTCAAACCCACAGATATGGAAGGCCAACTGTTTTGGTTAATTTGTTACACTGAATTTATTTTTCAAGGTCAAATTATTCATTGGGCTTTACTAATAGGAGTTCTGTAACATTTGAGAGGCATAATAAAAATAAAAAAAGTTGGGCCTGGCCCAGCTTCTTTTTTTGTAGACAACCATATCTTTTGAACAATGGGCTCTCCTTGATGCAGTTCCTATCATCATCATCATTATTGTTTTTGAGACAGAGTTTCACTTTGTCACCCAGGCTGGAGTTCAGTGGCACGATGTC... | TTTTGATTAGAGGTTTGTTGAATTTATGGATGTCAAACCCACAGATATGGAAGGCCAACTGTTTTGGTTAATTTGTTACACTGAATTTATTTTTCAAGGTCAAATTATTCATTGGGCTTTACTAATAGGAGTTCTGTAACATTTGAGAGGCATAATAAAAATAAAAAAAGTTGGGCCTGGCCCAGCTTCTTTTTTTGTAGACAACCATATCTTTTGAACAATGGGCTCTCCTTGATGCAGTTCCTATCATCATCATCATTATTGTTTTTGAGACAGAGTTTCACTTTGTCACCCAGGCTGGAGTTCAGTGGCACGATGTC... |
Task1_train_16863 | This is a variant in HYLS1, PUS3 (HYLS1 centriolar and ciliogenesis associated| pseudouridine synthase 3), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TGACATTTTCAAACTTACAGTCATATAAGACTAGAGGAAATTCTACAGCCATACTAGAGAAAAAGAGAAAAGAAAGTTTGAGAATACATAACATCCATCTAACAGTTCTTTAAAAACTAAGGGTTAGTTGCGTTAAGGGAGCCGGGTAGGGCGCCACCATTGATGTTAATATTGCCTAATAGCTGAGAAAATATCTCACCATCCCTAACCTTGAACACCTTTATTACAATAATGAAAAATGCAACAAATCATAGATCAACCTGATCTATGTAAGGTAAATGTCAGTGCTAACAAGACATGGCTCCATCATACTGCTATAA... | TGACATTTTCAAACTTACAGTCATATAAGACTAGAGGAAATTCTACAGCCATACTAGAGAAAAAGAGAAAAGAAAGTTTGAGAATACATAACATCCATCTAACAGTTCTTTAAAAACTAAGGGTTAGTTGCGTTAAGGGAGCCGGGTAGGGCGCCACCATTGATGTTAATATTGCCTAATAGCTGAGAAAATATCTCACCATCCCTAACCTTGAACACCTTTATTACAATAATGAAAAATGCAACAAATCATAGATCAACCTGATCTATGTAAGGTAAATGTCAGTGCTAACAAGACATGGCTCCATCATACTGCTATAA... |
Task1_train_16864 | A variant has been detected on Chromosome 11 in HYLS1, PUS3 (HYLS1 centriolar and ciliogenesis associated| pseudouridine synthase 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GACATTTTCAAACTTACAGTCATATAAGACTAGAGGAAATTCTACAGCCATACTAGAGAAAAAGAGAAAAGAAAGTTTGAGAATACATAACATCCATCTAACAGTTCTTTAAAAACTAAGGGTTAGTTGCGTTAAGGGAGCCGGGTAGGGCGCCACCATTGATGTTAATATTGCCTAATAGCTGAGAAAATATCTCACCATCCCTAACCTTGAACACCTTTATTACAATAATGAAAAATGCAACAAATCATAGATCAACCTGATCTATGTAAGGTAAATGTCAGTGCTAACAAGACATGGCTCCATCATACTGCTATAAA... | GACATTTTCAAACTTACAGTCATATAAGACTAGAGGAAATTCTACAGCCATACTAGAGAAAAAGAGAAAAGAAAGTTTGAGAATACATAACATCCATCTAACAGTTCTTTAAAAACTAAGGGTTAGTTGCGTTAAGGGAGCCGGGTAGGGCGCCACCATTGATGTTAATATTGCCTAATAGCTGAGAAAATATCTCACCATCCCTAACCTTGAACACCTTTATTACAATAATGAAAAATGCAACAAATCATAGATCAACCTGATCTATGTAAGGTAAATGTCAGTGCTAACAAGACATGGCTCCATCATACTGCTATAAA... |
Task1_train_16865 | An alteration has been detected in HYLS1, PUS3 (HYLS1 centriolar and ciliogenesis associated| pseudouridine synthase 3) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hydrolethalus syndrome 1 | ATGGCTGACTAAATTTATGATACATTCATACATTGGAATTCCGCGCAACATAAAATGAAGAATGTCGGCCTGTGCTGATATAGCTGGATAACCAAGATTATCTTTAAGGTTCAGAAGAGTTGTGTAGTGTTGTCCTTTACGGTATTAAAAAAAAATGTACATGTGAATATGGAAAATTTCTAGATAAATCATAAGAAATTGCCTTTGAGAGTAAAACTTGGTGGGGGAGGGAAAATCCTTGCTTAAAATTATCATGTGCATGTATTAGTTTTTCAGTTTAAAAAGAAAAATAGTGGGGACACAGGAAATAGTGGACAGTA... | ATGGCTGACTAAATTTATGATACATTCATACATTGGAATTCCGCGCAACATAAAATGAAGAATGTCGGCCTGTGCTGATATAGCTGGATAACCAAGATTATCTTTAAGGTTCAGAAGAGTTGTGTAGTGTTGTCCTTTACGGTATTAAAAAAAAATGTACATGTGAATATGGAAAATTTCTAGATAAATCATAAGAAATTGCCTTTGAGAGTAAAACTTGGTGGGGGAGGGAAAATCCTTGCTTAAAATTATCATGTGCATGTATTAGTTTTTCAGTTTAAAAAGAAAAATAGTGGGGACACAGGAAATAGTGGACAGTA... |
Task1_train_16866 | The gene CDON (cell adhesion associated, oncogene regulated) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Pituitary stalk interruption syndrome | TTCCCTACTGATGTCAGAAAATGAGGTATACTATTGTAATCACAGCTATACTATTATACTATTATAAATAACAGTTATAATGTTTTATGTTTTGTCTGGCTAGATTCTTAAATGTCCTGGGGACAGAGATGATAAATTTCATTTTTATTTAACTTTACTCCAAGTATCCCATGAACACATCACAGCGTCTGGTCCAAAAAGGCACTCAAATATATGCTAAACAAATGAAATTCAAGGTAAGTCTAAAGGTATATGGATATATGTTTAAATATGGGCTTAAGATGTGAGTATTGCAGCAGAAACACACATGGTTTAGAGTT... | TTCCCTACTGATGTCAGAAAATGAGGTATACTATTGTAATCACAGCTATACTATTATACTATTATAAATAACAGTTATAATGTTTTATGTTTTGTCTGGCTAGATTCTTAAATGTCCTGGGGACAGAGATGATAAATTTCATTTTTATTTAACTTTACTCCAAGTATCCCATGAACACATCACAGCGTCTGGTCCAAAAAGGCACTCAAATATATGCTAAACAAATGAAATTCAAGGTAAGTCTAAAGGTATATGGATATATGTTTAAATATGGGCTTAAGATGTGAGTATTGCAGCAGAAACACACATGGTTTAGAGTT... |
Task1_train_16867 | Consider a variant on Chromosome 11 in gene CDON (cell adhesion associated, oncogene regulated). Determine its clinical classification and disease relevance. | Pathogenic; Holoprosencephaly 11 | TTAGGGAGTTTACGACTTTGTGGGGGAACCTATGCTAGAAATGCTACGTCAGAAAGTTCTTTCTTACGCTGCTTTCTTGCAACTTCCCCTCCCCCAATTGACTCAGCTCCTCTTCCACATAACAGTCCGTAAATACCTGAAGGTAGCTATCGTGTTGCTTCTGCTAGTCTTTTTCAACCTGAATATCGTTAGAGATTCCCTTGTTCTTTGTGGACTCCATTCATACATGAATTCAATACTGGCCACCTCACCACTGTAGGGGCTGGACATAGCAGTGGGAGAAAAGGTCCTATGCTCACAAGGGAGTTAACATCTAGTAG... | TTAGGGAGTTTACGACTTTGTGGGGGAACCTATGCTAGAAATGCTACGTCAGAAAGTTCTTTCTTACGCTGCTTTCTTGCAACTTCCCCTCCCCCAATTGACTCAGCTCCTCTTCCACATAACAGTCCGTAAATACCTGAAGGTAGCTATCGTGTTGCTTCTGCTAGTCTTTTTCAACCTGAATATCGTTAGAGATTCCCTTGTTCTTTGTGGACTCCATTCATACATGAATTCAATACTGGCCACCTCACCACTGTAGGGGCTGGACATAGCAGTGGGAGAAAAGGTCCTATGCTCACAAGGGAGTTAACATCTAGTAG... |
Task1_train_16868 | This mutation is located in gene CDON (cell adhesion associated, oncogene regulated) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Holoprosencephaly 11 | TATCTAAAGCCTGTATGGTAAATAGATTTCAACCCAATTGACAATCTCAATCAACTGGGAGTGGCTGCTCCGTGCATGGTGTTCAAGATCCCAAGACCTTCTTAGGAGTCACCAAGAAAGAGCACTGCAAAAGATTAATGACATCTCAGGGAAGAAGCAGGTAGAGAATAGGAAAGAGGACATTTGCTCTTTTCACCATCCTGTTCTAAGTCATACCCATCAATGACAGTATTAGTTGAACTATCTGTCCCCAAAACTAGGTTCTTTTCACTTTAAAAGAAACAACTGAAGCACGGTTTAATACGGTGAATACACTCATA... | TATCTAAAGCCTGTATGGTAAATAGATTTCAACCCAATTGACAATCTCAATCAACTGGGAGTGGCTGCTCCGTGCATGGTGTTCAAGATCCCAAGACCTTCTTAGGAGTCACCAAGAAAGAGCACTGCAAAAGATTAATGACATCTCAGGGAAGAAGCAGGTAGAGAATAGGAAAGAGGACATTTGCTCTTTTCACCATCCTGTTCTAAGTCATACCCATCAATGACAGTATTAGTTGAACTATCTGTCCCCAAAACTAGGTTCTTTTCACTTTAAAAGAAACAACTGAAGCACGGTTTAATACGGTGAATACACTCATA... |
Task1_train_16869 | A change on Chromosome 11 affects gene SRPRA (SRP receptor subunit alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Shwachman-Diamond syndrome 1 | TCTTAACAAGAGGTTTGTGTTCTTCAATGTAGCACTTGTCTACCAGGCACTGTAGAGGGGAGTGATGAGGAAAAGCCAGGACTGCTTAGGAGGTGAAGGATGGGAGGGGAGGGGGTCATCATACATCCTTCTGACAATTGGTTTCCTCCCAGGAAGGGGAACATGCAGAGCTTACTTCTGGATTCTGGGAGTGGGAAGAGTTGGGAGGCCAAGAAGCCCAATGCAACGCTGCAGCTGAGCTCCTTTTATTTCTGAGGGAAGCAAGGACTCATCTTTTGCTCATTTGTAACAAATCACTCCAGCCTAGCTGATGCTTTGGG... | TCTTAACAAGAGGTTTGTGTTCTTCAATGTAGCACTTGTCTACCAGGCACTGTAGAGGGGAGTGATGAGGAAAAGCCAGGACTGCTTAGGAGGTGAAGGATGGGAGGGGAGGGGGTCATCATACATCCTTCTGACAATTGGTTTCCTCCCAGGAAGGGGAACATGCAGAGCTTACTTCTGGATTCTGGGAGTGGGAAGAGTTGGGAGGCCAAGAAGCCCAATGCAACGCTGCAGCTGAGCTCCTTTTATTTCTGAGGGAAGCAAGGACTCATCTTTTGCTCATTTGTAACAAATCACTCCAGCCTAGCTGATGCTTTGGG... |
Task1_train_16870 | Here is a variant affecting SRPRA (SRP receptor subunit alpha) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Severe congenital neutropenia | TCTTAACAAGAGGTTTGTGTTCTTCAATGTAGCACTTGTCTACCAGGCACTGTAGAGGGGAGTGATGAGGAAAAGCCAGGACTGCTTAGGAGGTGAAGGATGGGAGGGGAGGGGGTCATCATACATCCTTCTGACAATTGGTTTCCTCCCAGGAAGGGGAACATGCAGAGCTTACTTCTGGATTCTGGGAGTGGGAAGAGTTGGGAGGCCAAGAAGCCCAATGCAACGCTGCAGCTGAGCTCCTTTTATTTCTGAGGGAAGCAAGGACTCATCTTTTGCTCATTTGTAACAAATCACTCCAGCCTAGCTGATGCTTTGGG... | TCTTAACAAGAGGTTTGTGTTCTTCAATGTAGCACTTGTCTACCAGGCACTGTAGAGGGGAGTGATGAGGAAAAGCCAGGACTGCTTAGGAGGTGAAGGATGGGAGGGGAGGGGGTCATCATACATCCTTCTGACAATTGGTTTCCTCCCAGGAAGGGGAACATGCAGAGCTTACTTCTGGATTCTGGGAGTGGGAAGAGTTGGGAGGCCAAGAAGCCCAATGCAACGCTGCAGCTGAGCTCCTTTTATTTCTGAGGGAAGCAAGGACTCATCTTTTGCTCATTTGTAACAAATCACTCCAGCCTAGCTGATGCTTTGGG... |
Task1_train_16871 | This alteration occurs within gene FOXRED1 (FAD dependent oxidoreductase domain containing 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | CACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACTGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTCCAGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGAGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCATTGAAAAAAAAAAAAAGAAGTCATGGAATAGACTGGGATAGCAGGGAGCTCTGTGTGCTGAAGGGAGACAAGGGAGTAGGGAAGGAAAGGCAGTCAAGGCTGAAG... | CACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACTGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTCCAGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGAGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCATTGAAAAAAAAAAAAAGAAGTCATGGAATAGACTGGGATAGCAGGGAGCTCTGTGTGCTGAAGGGAGACAAGGGAGTAGGGAAGGAAAGGCAGTCAAGGCTGAAG... |
Task1_train_16872 | This alteration in FOXRED1 (FAD dependent oxidoreductase domain containing 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 19 | CACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACTGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTCCAGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGAGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCATTGAAAAAAAAAAAAAGAAGTCATGGAATAGACTGGGATAGCAGGGAGCTCTGTGTGCTGAAGGGAGACAAGGGAGTAGGGAAGGAAAGGCAGTCAAGGCTGAAG... | CACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACTGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGTGTGCCTGTAGTCCCAGCTACTCCAGAGGCTGAAGCAGGAGAATCGCTTGAACCCGGGAGGAGGAGGTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCATTGAAAAAAAAAAAAAGAAGTCATGGAATAGACTGGGATAGCAGGGAGCTCTGTGTGCTGAAGGGAGACAAGGGAGTAGGGAAGGAAAGGCAGTCAAGGCTGAAG... |
Task1_train_16873 | The variant affects gene FOXRED1 (FAD dependent oxidoreductase domain containing 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 19 | CCTAGACTAGGTCTTATCTTCTCACTCACAAGCTAAGCAAGGGCTGGAGGGGGAAAGGGGTCTCCCTGAGAGCAGGTCCTAGGCATCTTGACCTGGGCTCCTCACTGATCTGCGTTGTGACTTGTGATCTGCTTGATGATTGCACCTGAGCACTGTCCTGTCAGAGTGTGGCCAAGCTCATGCCAGCTCCCTCATCTCTGTTTGCTTCAGTGTCTGTGGGAAAGCTCCCATCCTTCCAGCTTTCTTTCCTTAAGAAACCAGTGAAATCCCCATTTCATTCCTCTTCAGCACCTCTACGGCCTATTTTTCATTTTCTTCTC... | CCTAGACTAGGTCTTATCTTCTCACTCACAAGCTAAGCAAGGGCTGGAGGGGGAAAGGGGTCTCCCTGAGAGCAGGTCCTAGGCATCTTGACCTGGGCTCCTCACTGATCTGCGTTGTGACTTGTGATCTGCTTGATGATTGCACCTGAGCACTGTCCTGTCAGAGTGTGGCCAAGCTCATGCCAGCTCCCTCATCTCTGTTTGCTTCAGTGTCTGTGGGAAAGCTCCCATCCTTCCAGCTTTCTTTCCTTAAGAAACCAGTGAAATCCCCATTTCATTCCTCTTCAGCACCTCTACGGCCTATTTTTCATTTTCTTCTC... |
Task1_train_16874 | Located on Chromosome 11, this mutation impacts DCPS, TIRAP-AS1 (decapping enzyme, scavenger| TIRAP antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Al-Raqad syndrome | GAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGGGACAGATCCTAAGTCTCTCCTAATAATGCTTTCTGCATCACACACACACACACACACACACACAAAGTAGTCCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTAACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATCTTTAGTAGAGACG... | GAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGGGACAGATCCTAAGTCTCTCCTAATAATGCTTTCTGCATCACACACACACACACACACACACACAAAGTAGTCCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTAACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTTGTATCTTTAGTAGAGACG... |
Task1_train_16875 | A variant has been detected on Chromosome 11 in DCPS (decapping enzyme, scavenger). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Al-Raqad syndrome | TCCATTTATGTATACAGGGACTAGGAACCCAGTCAATGTTAGATGTCTCGCTCATCCCTGTCCGTGGAAACGACATGAGACTGTAGGAGATGTGATCTCTGCCTTACGCGACTTCAGCCGTAACAGGAGAACAATATATTATAATTGTTAATTCAGTTCTACGCACGCACTTTCATGCATGCCAGACACTAAACTAGGTACTGGGGATGTGGAGACGAAAGTTACCATCCCTGATCTTCAGGACTACGGAATATTTCTGGCGAGACAGATACACACAGCTTGCTCCAATACCAACGTGCTCAGCAATCTGGCAGGGGCTG... | TCCATTTATGTATACAGGGACTAGGAACCCAGTCAATGTTAGATGTCTCGCTCATCCCTGTCCGTGGAAACGACATGAGACTGTAGGAGATGTGATCTCTGCCTTACGCGACTTCAGCCGTAACAGGAGAACAATATATTATAATTGTTAATTCAGTTCTACGCACGCACTTTCATGCATGCCAGACACTAAACTAGGTACTGGGGATGTGGAGACGAAAGTTACCATCCCTGATCTTCAGGACTACGGAATATTTCTGGCGAGACAGATACACACAGCTTGCTCCAATACCAACGTGCTCAGCAATCTGGCAGGGGCTG... |
Task1_train_16876 | Consider this mutation in DCPS, GSEC (decapping enzyme, scavenger| G-quadruplex forming sequence containing lncRNA) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Al-Raqad syndrome | CCTTTCCCAGAGTCCATCTTGGAGAGACTTCTCTCTGGATGCCAGTCTTGGGGACCCCATTAGGCTCTTGAGGTTGAAGAGCAGGGCTCTTTGTCCCTGGTCCTGCCACCTTTCCTCACCCTCACACGCCTTCCTCGGCCTTTCTCCATCTGGGATGCACTTCCACCCCTCACCCCATAGACTCTGGTCCTTAAGTCCTGGCCCCTCCTACTCCAGGATCACCTGTCTCTCTCATGACAACCATGACAACCACATCATGCCAGAGTTTCTTGGGAGTATGGGCACATGACTTCGATATGTGTGTACACGTGTGTCTCCTT... | CCTTTCCCAGAGTCCATCTTGGAGAGACTTCTCTCTGGATGCCAGTCTTGGGGACCCCATTAGGCTCTTGAGGTTGAAGAGCAGGGCTCTTTGTCCCTGGTCCTGCCACCTTTCCTCACCCTCACACGCCTTCCTCGGCCTTTCTCCATCTGGGATGCACTTCCACCCCTCACCCCATAGACTCTGGTCCTTAAGTCCTGGCCCCTCCTACTCCAGGATCACCTGTCTCTCTCATGACAACCATGACAACCACATCATGCCAGAGTTTCTTGGGAGTATGGGCACATGACTTCGATATGTGTGTACACGTGTGTCTCCTT... |
Task1_train_16877 | This is a variant in FLI1 (Fli-1 proto-oncogene, ETS transcription factor), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Bleeding disorder platelet type macrothrombocytopenia | CAAATCACAGAGTGTTATACTAGAAGAAAACTGAGGAATCCAGTAGCCCAACCCACTCATTTGTCAGATGAGAAAACTGATTCCCAGAAATTGTCCAACAAGTTATTTGTTTATCACATAGCTGCTGCTAAAACCCAGGCTGCTTGGTTTCTAGGCATGTGTTTTTCATGCTACATTTAAAAAAAAAAACAGATTAATAATGTTGTTAGTATTAGGTAGAGTTATTAAAGACCAGTAACCATGAGACCTGCTTTAAGCCCATGGAGTCAGCTGTCCGTTGTATCATTGAATATTATCCAGTTCCTTTCCAAATGTTTTCT... | CAAATCACAGAGTGTTATACTAGAAGAAAACTGAGGAATCCAGTAGCCCAACCCACTCATTTGTCAGATGAGAAAACTGATTCCCAGAAATTGTCCAACAAGTTATTTGTTTATCACATAGCTGCTGCTAAAACCCAGGCTGCTTGGTTTCTAGGCATGTGTTTTTCATGCTACATTTAAAAAAAAAAACAGATTAATAATGTTGTTAGTATTAGGTAGAGTTATTAAAGACCAGTAACCATGAGACCTGCTTTAAGCCCATGGAGTCAGCTGTCCGTTGTATCATTGAATATTATCCAGTTCCTTTCCAAATGTTTTCT... |
Task1_train_16878 | This variant impacts the gene FLI1 (Fli-1 proto-oncogene, ETS transcription factor) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Bleeding disorder, platelet-type, 21 | TCAGATGAGAAAACTGATTCCCAGAAATTGTCCAACAAGTTATTTGTTTATCACATAGCTGCTGCTAAAACCCAGGCTGCTTGGTTTCTAGGCATGTGTTTTTCATGCTACATTTAAAAAAAAAAACAGATTAATAATGTTGTTAGTATTAGGTAGAGTTATTAAAGACCAGTAACCATGAGACCTGCTTTAAGCCCATGGAGTCAGCTGTCCGTTGTATCATTGAATATTATCCAGTTCCTTTCCAAATGTTTTCTTTGTTTTGCTTTGGGTAATGACAACATAATCTGCACATTTTAGATGCCAAAATAAGAAAAAGT... | TCAGATGAGAAAACTGATTCCCAGAAATTGTCCAACAAGTTATTTGTTTATCACATAGCTGCTGCTAAAACCCAGGCTGCTTGGTTTCTAGGCATGTGTTTTTCATGCTACATTTAAAAAAAAAAACAGATTAATAATGTTGTTAGTATTAGGTAGAGTTATTAAAGACCAGTAACCATGAGACCTGCTTTAAGCCCATGGAGTCAGCTGTCCGTTGTATCATTGAATATTATCCAGTTCCTTTCCAAATGTTTTCTTTGTTTTGCTTTGGGTAATGACAACATAATCTGCACATTTTAGATGCCAAAATAAGAAAAAGT... |
Task1_train_16879 | This mutation occurs in KCNJ1 (potassium inwardly rectifying channel subfamily J member 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Bartter syndrome | ACCAATCAGAAAGATGTATGTTGTTCACCTCCCTAAACAATCAAAGGGAATGGATTGCTTATGACCATCTCACTTCCAGCCATCTACATGCATGCTGCCAGCCAGCAGGAGAATACACCAGGAAGAGTGCATGCTGATGGGAACAAGTGTCAACACAGTTTCCCTCCAGTTTATGAAGGGGCTACATCATGACAGTGGGCCAGCAGAGAATTCCAGCTCCCTCAAGCTTGTGATACCTGATTTCTTTTTCCTGTCAGCACATTAAATTGTGGTGCCAAAGCACTCACAGGTACAGAGTGAGAGTTCCACATGGGCCAGCT... | ACCAATCAGAAAGATGTATGTTGTTCACCTCCCTAAACAATCAAAGGGAATGGATTGCTTATGACCATCTCACTTCCAGCCATCTACATGCATGCTGCCAGCCAGCAGGAGAATACACCAGGAAGAGTGCATGCTGATGGGAACAAGTGTCAACACAGTTTCCCTCCAGTTTATGAAGGGGCTACATCATGACAGTGGGCCAGCAGAGAATTCCAGCTCCCTCAAGCTTGTGATACCTGATTTCTTTTTCCTGTCAGCACATTAAATTGTGGTGCCAAAGCACTCACAGGTACAGAGTGAGAGTTCCACATGGGCCAGCT... |
Task1_train_16880 | Gene KCNJ1 (potassium inwardly rectifying channel subfamily J member 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Bartter disease type 2 | ACCAATCAGAAAGATGTATGTTGTTCACCTCCCTAAACAATCAAAGGGAATGGATTGCTTATGACCATCTCACTTCCAGCCATCTACATGCATGCTGCCAGCCAGCAGGAGAATACACCAGGAAGAGTGCATGCTGATGGGAACAAGTGTCAACACAGTTTCCCTCCAGTTTATGAAGGGGCTACATCATGACAGTGGGCCAGCAGAGAATTCCAGCTCCCTCAAGCTTGTGATACCTGATTTCTTTTTCCTGTCAGCACATTAAATTGTGGTGCCAAAGCACTCACAGGTACAGAGTGAGAGTTCCACATGGGCCAGCT... | ACCAATCAGAAAGATGTATGTTGTTCACCTCCCTAAACAATCAAAGGGAATGGATTGCTTATGACCATCTCACTTCCAGCCATCTACATGCATGCTGCCAGCCAGCAGGAGAATACACCAGGAAGAGTGCATGCTGATGGGAACAAGTGTCAACACAGTTTCCCTCCAGTTTATGAAGGGGCTACATCATGACAGTGGGCCAGCAGAGAATTCCAGCTCCCTCAAGCTTGTGATACCTGATTTCTTTTTCCTGTCAGCACATTAAATTGTGGTGCCAAAGCACTCACAGGTACAGAGTGAGAGTTCCACATGGGCCAGCT... |
Task1_train_16881 | A sequence alteration has been identified in KCNJ1 (potassium inwardly rectifying channel subfamily J member 1) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Bartter syndrome | ATGTATGTTGTTCACCTCCCTAAACAATCAAAGGGAATGGATTGCTTATGACCATCTCACTTCCAGCCATCTACATGCATGCTGCCAGCCAGCAGGAGAATACACCAGGAAGAGTGCATGCTGATGGGAACAAGTGTCAACACAGTTTCCCTCCAGTTTATGAAGGGGCTACATCATGACAGTGGGCCAGCAGAGAATTCCAGCTCCCTCAAGCTTGTGATACCTGATTTCTTTTTCCTGTCAGCACATTAAATTGTGGTGCCAAAGCACTCACAGGTACAGAGTGAGAGTTCCACATGGGCCAGCTATGGCCACTGTTA... | ATGTATGTTGTTCACCTCCCTAAACAATCAAAGGGAATGGATTGCTTATGACCATCTCACTTCCAGCCATCTACATGCATGCTGCCAGCCAGCAGGAGAATACACCAGGAAGAGTGCATGCTGATGGGAACAAGTGTCAACACAGTTTCCCTCCAGTTTATGAAGGGGCTACATCATGACAGTGGGCCAGCAGAGAATTCCAGCTCCCTCAAGCTTGTGATACCTGATTTCTTTTTCCTGTCAGCACATTAAATTGTGGTGCCAAAGCACTCACAGGTACAGAGTGAGAGTTCCACATGGGCCAGCTATGGCCACTGTTA... |
Task1_train_16882 | This sequence variant lies in KCNJ1 (potassium inwardly rectifying channel subfamily J member 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | AGGTACAGAGTGAGAGTTCCACATGGGCCAGCTATGGCCACTGTTATGGCCACTGACAAGGTGTGCAACCCTAAAACCATCAGACTTCCCACTGTTCTTAGTCAGAAGGACCAGAGTGGTGCATGGATCTGTACAAATACAGCCCAGGCATGGAAAAACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCT... | AGGTACAGAGTGAGAGTTCCACATGGGCCAGCTATGGCCACTGTTATGGCCACTGACAAGGTGTGCAACCCTAAAACCATCAGACTTCCCACTGTTCTTAGTCAGAAGGACCAGAGTGGTGCATGGATCTGTACAAATACAGCCCAGGCATGGAAAAACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCT... |
Task1_train_16883 | Here’s a variant in KCNJ1 (potassium inwardly rectifying channel subfamily J member 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Bartter syndrome | CAACCCTAAAACCATCAGACTTCCCACTGTTCTTAGTCAGAAGGACCAGAGTGGTGCATGGATCTGTACAAATACAGCCCAGGCATGGAAAAACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGAC... | CAACCCTAAAACCATCAGACTTCCCACTGTTCTTAGTCAGAAGGACCAGAGTGGTGCATGGATCTGTACAAATACAGCCCAGGCATGGAAAAACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGAC... |
Task1_train_16884 | This mutation occurs in KCNJ1 (potassium inwardly rectifying channel subfamily J member 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Bartter disease type 2 | CAACCCTAAAACCATCAGACTTCCCACTGTTCTTAGTCAGAAGGACCAGAGTGGTGCATGGATCTGTACAAATACAGCCCAGGCATGGAAAAACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGAC... | CAACCCTAAAACCATCAGACTTCCCACTGTTCTTAGTCAGAAGGACCAGAGTGGTGCATGGATCTGTACAAATACAGCCCAGGCATGGAAAAACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGAC... |
Task1_train_16885 | This variant impacts the gene KCNJ1 (potassium inwardly rectifying channel subfamily J member 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Bartter syndrome | ACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCAAAGTGCATGCACAGTTTCAGAAATTTACTATATTAATCAACACACTGAAAACATTTTGATTC... | ACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCAAAGTGCATGCACAGTTTCAGAAATTTACTATATTAATCAACACACTGAAAACATTTTGATTC... |
Task1_train_16886 | This is a variant in KCNJ1 (potassium inwardly rectifying channel subfamily J member 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Bartter disease type 2 | ACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCAAAGTGCATGCACAGTTTCAGAAATTTACTATATTAATCAACACACTGAAAACATTTTGATTC... | ACATAAGCCATCCCTCCCAACAACTGTGGGCAGCTGCCGTTTTATGTGCCAAGACTCACACTGGAGAGGCGTGATGGAGCTGTACCGGAAGGGGTGTGTCTGTGGCCAGGGTCATTTCCTCCTGAGGACTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCAAAGTGCATGCACAGTTTCAGAAATTTACTATATTAATCAACACACTGAAAACATTTTGATTC... |
Task1_train_16887 | The gene KCNJ1 (potassium inwardly rectifying channel subfamily J member 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Bartter disease type 2 | CTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCAAAGTGCATGCACAGTTTCAGAAATTTACTATATTAATCAACACACTGAAAACATTTTGATTCCTAAGCAGCTTTGAGTACCAGTTTTTTTCCAGGACACATTCGGAATGATGCAGGTGGGGATCTGAAGAAGACTTTCACAGTAAAACTTTCCCCTCAAGGTCGAGCCTTCCATAAGCTGGTCCCTTTTA... | CTCCAGACAACAAATGTGTCCTATCTGCTTCCTCTCCACTCCTCCCGCCCCTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCAAAGTGCATGCACAGTTTCAGAAATTTACTATATTAATCAACACACTGAAAACATTTTGATTCCTAAGCAGCTTTGAGTACCAGTTTTTTTCCAGGACACATTCGGAATGATGCAGGTGGGGATCTGAAGAAGACTTTCACAGTAAAACTTTCCCCTCAAGGTCGAGCCTTCCATAAGCTGGTCCCTTTTA... |
Task1_train_16888 | A variant was discovered on Chromosome 11, affecting KCNJ1 (potassium inwardly rectifying channel subfamily J member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Bartter disease type 2 | CTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCAAAGTGCATGCACAGTTTCAGAAATTTACTATATTAATCAACACACTGAAAACATTTTGATTCCTAAGCAGCTTTGAGTACCAGTTTTTTTCCAGGACACATTCGGAATGATGCAGGTGGGGATCTGAAGAAGACTTTCACAGTAAAACTTTCCCCTCAAGGTCGAGCCTTCCATAAGCTGGTCCCTTTTAGGAAGATGGGCTGTCAGGGAAAGAAAGACATAGTAACATTCTGACTGTGG... | CTTCCAGGAGAGGGTCCTCTCTGCAAGAGGATTTTCACCTGGAACCTGACTCAGTTAATGCATAGTAATAATAATAATCAAAGTGCATGCACAGTTTCAGAAATTTACTATATTAATCAACACACTGAAAACATTTTGATTCCTAAGCAGCTTTGAGTACCAGTTTTTTTCCAGGACACATTCGGAATGATGCAGGTGGGGATCTGAAGAAGACTTTCACAGTAAAACTTTCCCCTCAAGGTCGAGCCTTCCATAAGCTGGTCCCTTTTAGGAAGATGGGCTGTCAGGGAAAGAAAGACATAGTAACATTCTGACTGTGG... |
Task1_train_16889 | This sequence change occurs on Chromosome 11, altering KCNJ5 (potassium inwardly rectifying channel subfamily J member 5). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cardiovascular phenotype | GCCAAGTGACAGAGCAGTCTAGGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAAC... | GCCAAGTGACAGAGCAGTCTAGGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAAC... |
Task1_train_16890 | The following genetic variant occurs in KCNJ5 (potassium inwardly rectifying channel subfamily J member 5) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Long QT syndrome | GCCAAGTGACAGAGCAGTCTAGGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAAC... | GCCAAGTGACAGAGCAGTCTAGGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAAC... |
Task1_train_16891 | The gene KCNJ5 (potassium inwardly rectifying channel subfamily J member 5) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Familial hyperaldosteronism type III | GCCAAGTGACAGAGCAGTCTAGGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAAC... | GCCAAGTGACAGAGCAGTCTAGGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAAC... |
Task1_train_16892 | A genetic alteration is present in KCNJ5 (potassium inwardly rectifying channel subfamily J member 5) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Long QT syndrome | CCAAGTGACAGAGCAGTCTAGGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAACC... | CCAAGTGACAGAGCAGTCTAGGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAACC... |
Task1_train_16893 | The variant affects gene KCNJ5 (potassium inwardly rectifying channel subfamily J member 5), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Familial hyperaldosteronism type III | TAGGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAACCTCACTTGGTCACATGCTA... | TAGGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAACCTCACTTGGTCACATGCTA... |
Task1_train_16894 | Mutation context: Chromosome 11, Gene KCNJ5 (potassium inwardly rectifying channel subfamily J member 5). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Familial hyperaldosteronism type III | GGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAACCTCACTTGGTCACATGCTAAG... | GGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAACCTCACTTGGTCACATGCTAAG... |
Task1_train_16895 | Chromosome 11 houses a mutation in gene KCNJ5 (potassium inwardly rectifying channel subfamily J member 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Aldosterone-producing adrenal adenoma, somatic | GGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAACCTCACTTGGTCACATGCTAAG... | GGCATTCTGTGTTTCTCGATCAGGACAGATAAGTAAGTGGGGGTTCCTGGGGGACCCTATACCCGGGAGGGAGGGTAACTGCGAATTCAAGGAAGACTTACTTATAAAGAGGAAGAAGGGTTGAAAGATAGTATCCCTAAGGTGATGTTTCCCAGGGCCAGAAGCTCATAGAACTTTCTGAAGGGAGCAGGTCATCAGCCTTAGCATGAGCCCCGGAGCATCAGTGTCTGCTGGCCGTTGTGTGGTGAGTGCTGTGGGTCAGCCTTTGGGCTGCAGCCAGATAAACCTAGACCCAAAACCTCACTTGGTCACATGCTAAG... |
Task1_train_16896 | The following genetic variant occurs in KCNJ5 (potassium inwardly rectifying channel subfamily J member 5) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial hyperaldosteronism type III | TTTGGGCTGCAGCCAGATAAACCTAGACCCAAAACCTCACTTGGTCACATGCTAAGTGAGCTTCATTCTTCTCTTCTGAAAAATGGGGGGATAATAATGGTATTTATCTAACCATGTTGTGAGGATTAAATCAGCCAATGGATAAAAATTTCCTAGTGCAGTTCCTGGCTTCTGAGTGCTCAGAAATGTTGTCTGTTATTGTTAATTAAAGAGGTCTTTCCCAACTGAATGAGAGTCTTAAAGCTCGTTAAATGGGTTTTGAGGGGACTATCAGACACCTGTATTGCAGGTGTGTGGGTATCTCTTGGAAGTGTGGTAGG... | TTTGGGCTGCAGCCAGATAAACCTAGACCCAAAACCTCACTTGGTCACATGCTAAGTGAGCTTCATTCTTCTCTTCTGAAAAATGGGGGGATAATAATGGTATTTATCTAACCATGTTGTGAGGATTAAATCAGCCAATGGATAAAAATTTCCTAGTGCAGTTCCTGGCTTCTGAGTGCTCAGAAATGTTGTCTGTTATTGTTAATTAAAGAGGTCTTTCCCAACTGAATGAGAGTCTTAAAGCTCGTTAAATGGGTTTTGAGGGGACTATCAGACACCTGTATTGCAGGTGTGTGGGTATCTCTTGGAAGTGTGGTAGG... |
Task1_train_16897 | The gene ST14 (ST14 transmembrane serine protease matriptase) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autosomal recessive congenital ichthyosis 11 | ATGAGAGAGGTACAAACAGAGCTAGTTCTGGTTGAGAGGGAAGGAAACTCCTGGGGAGGAGGTAGCATATCAGTCAGGAAGCGTGAGGTTTGCAGCAATAACAAACAACCCTCAGCTCTCGGTGGCTTAACATCCCAAAAGCTGACTGACTCCTCATTCATGCTACATATCCAGTGTGTGTCATTGTAGCCACTTAGGGTCACAGGTCACAGAGTTAAACCTCTCAGAAGAGAGCAGGGCATTGTGCAGTGCCTCCTTATGCTGCTATGTACAAGTGGTGTGTCCTCTCATTGGACATTTTCTTGGTTACCGCTAGCCAT... | ATGAGAGAGGTACAAACAGAGCTAGTTCTGGTTGAGAGGGAAGGAAACTCCTGGGGAGGAGGTAGCATATCAGTCAGGAAGCGTGAGGTTTGCAGCAATAACAAACAACCCTCAGCTCTCGGTGGCTTAACATCCCAAAAGCTGACTGACTCCTCATTCATGCTACATATCCAGTGTGTGTCATTGTAGCCACTTAGGGTCACAGGTCACAGAGTTAAACCTCTCAGAAGAGAGCAGGGCATTGTGCAGTGCCTCCTTATGCTGCTATGTACAAGTGGTGTGTCCTCTCATTGGACATTTTCTTGGTTACCGCTAGCCAT... |
Task1_train_16898 | This gene mutation involves ST14 (ST14 transmembrane serine protease matriptase) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 11 | TGCTAAACCTATTCCATAGCCAGCAACAAACTTAGACACAACACAACATATTTTTCAATTCATTTTGGTCTTAGGTTATATAGCACTACATTAAAAATTTATTTGGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCAGCCTGACCACCATGATGAAATCCCGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCACTTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGATAATCGCTTGAACTCGGGAGGTGGA... | TGCTAAACCTATTCCATAGCCAGCAACAAACTTAGACACAACACAACATATTTTTCAATTCATTTTGGTCTTAGGTTATATAGCACTACATTAAAAATTTATTTGGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCAGCCTGACCACCATGATGAAATCCCGTCTCTATTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGCACTTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGATAATCGCTTGAACTCGGGAGGTGGA... |
Task1_train_16899 | This gene mutation involves OPCML (opioid binding protein/cell adhesion molecule like) on Chromosome 11. Is it associated with any clinical condition, or is it benign? | Pathogenic; Ovarian neoplasm | CTTGCTCTGTTTGAGTCTGTTTCTCTACAGTGCCTGACAGTTCTTTTTTATTTCGGTGCCACATTTCCTGAATTTGAAAATAACTTTGCTGTCAAGGCCACAGAGGTGCCACTGAGGTGGCACTTCCGATGCCGAGAATGTCAGCTCCTCTGGAACCAAGCCCAGGTGCAGGCAGGTGGGGTAGTGAGAGCTCACAGTCTTTTGTTTTCTACACCCTCAGAAACGTTCAACAGATAGCCCAGCTCATCTCCGATGACTGATCTCACCAAGTGCCTCTGTCGTCCTCTGAGGAGAAGTATCAGATGTGACAGTTGTCTTGA... | CTTGCTCTGTTTGAGTCTGTTTCTCTACAGTGCCTGACAGTTCTTTTTTATTTCGGTGCCACATTTCCTGAATTTGAAAATAACTTTGCTGTCAAGGCCACAGAGGTGCCACTGAGGTGGCACTTCCGATGCCGAGAATGTCAGCTCCTCTGGAACCAAGCCCAGGTGCAGGCAGGTGGGGTAGTGAGAGCTCACAGTCTTTTGTTTTCTACACCCTCAGAAACGTTCAACAGATAGCCCAGCTCATCTCCGATGACTGATCTCACCAAGTGCCTCTGTCGTCCTCTGAGGAGAAGTATCAGATGTGACAGTTGTCTTGA... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.