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_4800 | This alteration occurs within gene BBS5, LOC129935068 (Bardet-Biedl syndrome 5| ATAC-STARR-seq lymphoblastoid active region 16738) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Bardet-Biedl syndrome 5 | TCTTCACATTATTATGAATATAGTTTGACCTTGTGGGCCCCCTGTAGGGATCCAGATCAGTCTTTGTGAACCACTAATTTAAATAATTGTCATGCATTGAGAAAAGGGACTTTGATTCATTCAAGAAGTATTTACTGGGTCCTACTCTGTGCTGGGTATTGTTCAAAGCAGTCAACTAGATAGATCAGGTGTCTGTCCTCGGGTTGTTCACAGCAGGTGGGGCAGAAGGATCAGGGACTGCTGGAGTTGACATGTGAGCTGAGATGTGATTTGATTTGATTTGATTTGACTTTTTTTTGGAGCCAGAGTTTCGCTCTTGT... | TCTTCACATTATTATGAATATAGTTTGACCTTGTGGGCCCCCTGTAGGGATCCAGATCAGTCTTTGTGAACCACTAATTTAAATAATTGTCATGCATTGAGAAAAGGGACTTTGATTCATTCAAGAAGTATTTACTGGGTCCTACTCTGTGCTGGGTATTGTTCAAAGCAGTCAACTAGATAGATCAGGTGTCTGTCCTCGGGTTGTTCACAGCAGGTGGGGCAGAAGGATCAGGGACTGCTGGAGTTGACATGTGAGCTGAGATGTGATTTGATTTGATTTGATTTGACTTTTTTTTGGAGCCAGAGTTTCGCTCTTGT... |
Task1_train_4801 | Here is a mutation in BBS5, LOC129935068 (Bardet-Biedl syndrome 5| ATAC-STARR-seq lymphoblastoid active region 16738) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Bardet-Biedl syndrome | CTTCACATTATTATGAATATAGTTTGACCTTGTGGGCCCCCTGTAGGGATCCAGATCAGTCTTTGTGAACCACTAATTTAAATAATTGTCATGCATTGAGAAAAGGGACTTTGATTCATTCAAGAAGTATTTACTGGGTCCTACTCTGTGCTGGGTATTGTTCAAAGCAGTCAACTAGATAGATCAGGTGTCTGTCCTCGGGTTGTTCACAGCAGGTGGGGCAGAAGGATCAGGGACTGCTGGAGTTGACATGTGAGCTGAGATGTGATTTGATTTGATTTGATTTGACTTTTTTTTGGAGCCAGAGTTTCGCTCTTGTT... | CTTCACATTATTATGAATATAGTTTGACCTTGTGGGCCCCCTGTAGGGATCCAGATCAGTCTTTGTGAACCACTAATTTAAATAATTGTCATGCATTGAGAAAAGGGACTTTGATTCATTCAAGAAGTATTTACTGGGTCCTACTCTGTGCTGGGTATTGTTCAAAGCAGTCAACTAGATAGATCAGGTGTCTGTCCTCGGGTTGTTCACAGCAGGTGGGGCAGAAGGATCAGGGACTGCTGGAGTTGACATGTGAGCTGAGATGTGATTTGATTTGATTTGATTTGACTTTTTTTTGGAGCCAGAGTTTCGCTCTTGTT... |
Task1_train_4802 | A variant on Chromosome 2 in gene BBS5, LOC129935068 (Bardet-Biedl syndrome 5| ATAC-STARR-seq lymphoblastoid active region 16738) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Bardet-Biedl syndrome 5 | CTTCACATTATTATGAATATAGTTTGACCTTGTGGGCCCCCTGTAGGGATCCAGATCAGTCTTTGTGAACCACTAATTTAAATAATTGTCATGCATTGAGAAAAGGGACTTTGATTCATTCAAGAAGTATTTACTGGGTCCTACTCTGTGCTGGGTATTGTTCAAAGCAGTCAACTAGATAGATCAGGTGTCTGTCCTCGGGTTGTTCACAGCAGGTGGGGCAGAAGGATCAGGGACTGCTGGAGTTGACATGTGAGCTGAGATGTGATTTGATTTGATTTGATTTGACTTTTTTTTGGAGCCAGAGTTTCGCTCTTGTT... | CTTCACATTATTATGAATATAGTTTGACCTTGTGGGCCCCCTGTAGGGATCCAGATCAGTCTTTGTGAACCACTAATTTAAATAATTGTCATGCATTGAGAAAAGGGACTTTGATTCATTCAAGAAGTATTTACTGGGTCCTACTCTGTGCTGGGTATTGTTCAAAGCAGTCAACTAGATAGATCAGGTGTCTGTCCTCGGGTTGTTCACAGCAGGTGGGGCAGAAGGATCAGGGACTGCTGGAGTTGACATGTGAGCTGAGATGTGATTTGATTTGATTTGATTTGACTTTTTTTTGGAGCCAGAGTTTCGCTCTTGTT... |
Task1_train_4803 | Given this context: Chromosome 2, gene BBS5 (Bardet-Biedl syndrome 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Bardet-Biedl syndrome | AGAGGTGGTTGGTGGTTTTATATGGCAAACCCTTCCCACTCCATAATTTCTCCTGGGACCGACAGAAAAATATAAAAGAATCAATAGATGTCCTGAGCCCATAGCCCACTTGTAAAGATAAAATGTTGCCTAGGTAAAATGGCGTAAGGAAAACAGGTATATCTATATAAAAACCAAAAAAAGTTAAAAATGAGTTTGCAAAGGATTATTTTTTAAATAGCTATTATTTGGGGAATGTTTATTGACAGTCACTGTTCTGAATCTTTTATATAAATATAATCTCATTTAACAATAATAAAAACAGTAAAACAAAAAGTTTA... | AGAGGTGGTTGGTGGTTTTATATGGCAAACCCTTCCCACTCCATAATTTCTCCTGGGACCGACAGAAAAATATAAAAGAATCAATAGATGTCCTGAGCCCATAGCCCACTTGTAAAGATAAAATGTTGCCTAGGTAAAATGGCGTAAGGAAAACAGGTATATCTATATAAAAACCAAAAAAAGTTAAAAATGAGTTTGCAAAGGATTATTTTTTAAATAGCTATTATTTGGGGAATGTTTATTGACAGTCACTGTTCTGAATCTTTTATATAAATATAATCTCATTTAACAATAATAAAAACAGTAAAACAAAAAGTTTA... |
Task1_train_4804 | A variant on Chromosome 2 in gene BBS5 (Bardet-Biedl syndrome 5) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Bardet-Biedl syndrome 5 | CTTCCAGTTGGAAGAGCCATGGCAGAAGATCAAAGGGAGGCAGGAGTTTGAGGTCTGGGTATTTATTGCCCTGGTTCCTTCCCAGTGAAGGGTTGGCTGTGTCTCTCCTCTCAAAGCAGTCAGCTCCATAGGACTCTTGTTTCTTCCAGATTTCATGAACTGCTGCTCCCTCTTTTGTAAATAAACCTCAGTTATCCTAACTTGAGTGTGCCATCTGTTTTCCGTTGGACCAATGACTGAAGGATGCTATACCTAGTCTTCTATGATCTTGTGTGAACTTTACACTCCAGCCATGCTGGATTACTTATTATTTGTCAAAG... | CTTCCAGTTGGAAGAGCCATGGCAGAAGATCAAAGGGAGGCAGGAGTTTGAGGTCTGGGTATTTATTGCCCTGGTTCCTTCCCAGTGAAGGGTTGGCTGTGTCTCTCCTCTCAAAGCAGTCAGCTCCATAGGACTCTTGTTTCTTCCAGATTTCATGAACTGCTGCTCCCTCTTTTGTAAATAAACCTCAGTTATCCTAACTTGAGTGTGCCATCTGTTTTCCGTTGGACCAATGACTGAAGGATGCTATACCTAGTCTTCTATGATCTTGTGTGAACTTTACACTCCAGCCATGCTGGATTACTTATTATTTGTCAAAG... |
Task1_train_4805 | A mutation on Chromosome 2 affecting BBS5 (Bardet-Biedl syndrome 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Bardet-Biedl syndrome | CTTCCAGTTGGAAGAGCCATGGCAGAAGATCAAAGGGAGGCAGGAGTTTGAGGTCTGGGTATTTATTGCCCTGGTTCCTTCCCAGTGAAGGGTTGGCTGTGTCTCTCCTCTCAAAGCAGTCAGCTCCATAGGACTCTTGTTTCTTCCAGATTTCATGAACTGCTGCTCCCTCTTTTGTAAATAAACCTCAGTTATCCTAACTTGAGTGTGCCATCTGTTTTCCGTTGGACCAATGACTGAAGGATGCTATACCTAGTCTTCTATGATCTTGTGTGAACTTTACACTCCAGCCATGCTGGATTACTTATTATTTGTCAAAG... | CTTCCAGTTGGAAGAGCCATGGCAGAAGATCAAAGGGAGGCAGGAGTTTGAGGTCTGGGTATTTATTGCCCTGGTTCCTTCCCAGTGAAGGGTTGGCTGTGTCTCTCCTCTCAAAGCAGTCAGCTCCATAGGACTCTTGTTTCTTCCAGATTTCATGAACTGCTGCTCCCTCTTTTGTAAATAAACCTCAGTTATCCTAACTTGAGTGTGCCATCTGTTTTCCGTTGGACCAATGACTGAAGGATGCTATACCTAGTCTTCTATGATCTTGTGTGAACTTTACACTCCAGCCATGCTGGATTACTTATTATTTGTCAAAG... |
Task1_train_4806 | The gene BBS5 (Bardet-Biedl syndrome 5) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Bardet-Biedl syndrome 5 | CTTTTGGAATCAGTACAGATTCATTCTAGTTTTCTGTATAGAGGTAGACATGAGCATGTTTTCAGGTTGCAGTGAGAAAAAGTAATTGTTTTTGTTTTGAGACAGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAATGTCCACCTCCTGGTTTCAAGCAATTCTTCTGCCTCAGTCTCCCAAGTAGATGAGACTACAAGTGCACACCACCACACCCGGCTAATTCTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGCTCTCAAACTCCAGACTTCAAGTGA... | CTTTTGGAATCAGTACAGATTCATTCTAGTTTTCTGTATAGAGGTAGACATGAGCATGTTTTCAGGTTGCAGTGAGAAAAAGTAATTGTTTTTGTTTTGAGACAGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAATGTCCACCTCCTGGTTTCAAGCAATTCTTCTGCCTCAGTCTCCCAAGTAGATGAGACTACAAGTGCACACCACCACACCCGGCTAATTCTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGCTCTCAAACTCCAGACTTCAAGTGA... |
Task1_train_4807 | This alteration in KLHL41 (kelch like family member 41) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Nemaline myopathy 9 | TGGAAGGTCAGCAAAGCAAATGCCTTGCTGCTTTTAAAAGGCACTAATAGAACGGTATGCCAGGATAAAAACACTTCACCATAAAAGAGGGTTGTGACTCATCAGACAATATTTACATGAGAATTTCAGGTTTTATATTTTTCTGCTTGGTCACATCTATTTAAAATGCATTAATTTAGGAGTAATTTGACCTTTGATTGTATGCTGTAAATAGATTATGAGAATTTTTTACCTTGGTAAGGGAGGATTTTTTCCCCCACTCATTAATTTGAATTAATAGATTCATCAAATCTTTGAACAGGTCTTAAAGTAATCTAGGT... | TGGAAGGTCAGCAAAGCAAATGCCTTGCTGCTTTTAAAAGGCACTAATAGAACGGTATGCCAGGATAAAAACACTTCACCATAAAAGAGGGTTGTGACTCATCAGACAATATTTACATGAGAATTTCAGGTTTTATATTTTTCTGCTTGGTCACATCTATTTAAAATGCATTAATTTAGGAGTAATTTGACCTTTGATTGTATGCTGTAAATAGATTATGAGAATTTTTTACCTTGGTAAGGGAGGATTTTTTCCCCCACTCATTAATTTGAATTAATAGATTCATCAAATCTTTGAACAGGTCTTAAAGTAATCTAGGT... |
Task1_train_4808 | This variant affects gene FASTKD1 (FAST kinase domains 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Glaucoma 1, open angle, B | ACCACTCTCTCCAAGCCACCATCCATTGTTGTCTGGATTATTGCAATGACCTCGTAAAGAGTTTTCTTTCTTACACATTTGCCTCATCGTAGTCTTTTCTTATCTCAACAAGGTAGCCAAAGTAACGCAGTTAAAATGTGAATTCATATCATTCCTTACTTGAAAAGCCCCCAATGGCTTCTCATCTCGCTCAGAGTAGCCAAGAGGTTGTATTTGACTCTGTTATCTCTTATCTTTTCTCTTATACACTCCCACCCCACTCCCCACTTGTTCTGCTCCAGCCACACTGGATCCTTTGTTATTCTCAAACATGCCAGGCA... | ACCACTCTCTCCAAGCCACCATCCATTGTTGTCTGGATTATTGCAATGACCTCGTAAAGAGTTTTCTTTCTTACACATTTGCCTCATCGTAGTCTTTTCTTATCTCAACAAGGTAGCCAAAGTAACGCAGTTAAAATGTGAATTCATATCATTCCTTACTTGAAAAGCCCCCAATGGCTTCTCATCTCGCTCAGAGTAGCCAAGAGGTTGTATTTGACTCTGTTATCTCTTATCTTTTCTCTTATACACTCCCACCCCACTCCCCACTTGTTCTGCTCCAGCCACACTGGATCCTTTGTTATTCTCAAACATGCCAGGCA... |
Task1_train_4809 | A variant found in Chromosome 2 affects GAD1 (glutamate decarboxylase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Developmental and epileptic encephalopathy 89 | TAAAATTGTCTCTGCCCTCAGTTCATGTGCATACTGCACACAGCAAAGTATTTGTCAGTGTTTACTGAGTACCCACTGTGTGCCAGGCCTCCTGCTAGGACCTAGATTCTAGAGTATTGAACAAAACAGATACATTCTCTGACCCAATGGAGCTTACACTTGAATAAAGAAAGATAGAATAGGAGCCAGTGTTGAATAAAAGAAAATCCACTTATAAGCCAGTATAATATAACACTGCTTACAGTCAACATTATTCTATTTATCAGGCAACCTAAACTACTAGGAACACATGTGAATCACCAAATGAACAAAAAAGAGCC... | TAAAATTGTCTCTGCCCTCAGTTCATGTGCATACTGCACACAGCAAAGTATTTGTCAGTGTTTACTGAGTACCCACTGTGTGCCAGGCCTCCTGCTAGGACCTAGATTCTAGAGTATTGAACAAAACAGATACATTCTCTGACCCAATGGAGCTTACACTTGAATAAAGAAAGATAGAATAGGAGCCAGTGTTGAATAAAAGAAAATCCACTTATAAGCCAGTATAATATAACACTGCTTACAGTCAACATTATTCTATTTATCAGGCAACCTAAACTACTAGGAACACATGTGAATCACCAAATGAACAAAAAAGAGCC... |
Task1_train_4810 | Consider a variant on Chromosome 2 in gene DYNC1I2 (dynein cytoplasmic 1 intermediate chain 2). Determine its clinical classification and disease relevance. | Pathogenic; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | AGGCCGTTGAAAGGAAAAATTTTAACCTTCACCATTTGGTTCAAAAGTATGAGCATATATTGAAATCACTCGTGCCATTTATCCTAGTTCTGTAAACTTGTCAGAACACAAAAATCGCTCAATTTCAAGTAATGTAGGATTGGCATACGTCATTATCATTTTGATTAAGTTGGAGGTTGTATCATTGTGTGCATTATACAGTGTCATTTAAAGCTTTCTTTCCACAGGTACAGTTATATTTTTATTGCCTATACTATAGAGTTAGAAAGATTTTCATAGCTCTCTAAACCTAACAGTATGTGTGTGGTTTGGCAGCTGGT... | AGGCCGTTGAAAGGAAAAATTTTAACCTTCACCATTTGGTTCAAAAGTATGAGCATATATTGAAATCACTCGTGCCATTTATCCTAGTTCTGTAAACTTGTCAGAACACAAAAATCGCTCAATTTCAAGTAATGTAGGATTGGCATACGTCATTATCATTTTGATTAAGTTGGAGGTTGTATCATTGTGTGCATTATACAGTGTCATTTAAAGCTTTCTTTCCACAGGTACAGTTATATTTTTATTGCCTATACTATAGAGTTAGAAAGATTTTCATAGCTCTCTAAACCTAACAGTATGTGTGTGGTTTGGCAGCTGGT... |
Task1_train_4811 | Consider a variant on Chromosome 2 in gene SLC25A12 (solute carrier family 25 member 12). Determine its clinical classification and disease relevance. | Pathogenic; Developmental and epileptic encephalopathy, 39 | CATTTCCATGGCATCTGTGCTGCATGACTAGAAACCACAGTCATGATTTATAGCTGCTTTGACAGCAACTTATCTACATATTTGATTTACAAGAGAAATGGCCTTATTTCCAATGCTTGCATACATATATAAACAAATCCATAGGAAAAAAGTCAGAAGAAAAGACACTCAAATATGAAGACTCTCTGGGTAGTAAGATTATGGATGATTTTTTTCTTTTTTCTTCTTGTAAAGATGGGGTCTTGCTATGTTGCCAAAGCTGGTTTCGAACTTCTGGTCTAAGGAATCCTTCTGCCTTGGCCTCCCAGAGCACTGGGAGG... | CATTTCCATGGCATCTGTGCTGCATGACTAGAAACCACAGTCATGATTTATAGCTGCTTTGACAGCAACTTATCTACATATTTGATTTACAAGAGAAATGGCCTTATTTCCAATGCTTGCATACATATATAAACAAATCCATAGGAAAAAAGTCAGAAGAAAAGACACTCAAATATGAAGACTCTCTGGGTAGTAAGATTATGGATGATTTTTTTCTTTTTTCTTCTTGTAAAGATGGGGTCTTGCTATGTTGCCAAAGCTGGTTTCGAACTTCTGGTCTAAGGAATCCTTCTGCCTTGGCCTCCCAGAGCACTGGGAGG... |
Task1_train_4812 | Located on Chromosome 2, this mutation impacts SLC25A12 (solute carrier family 25 member 12). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Developmental and epileptic encephalopathy, 39 | GGTATGCATGTGCTGTGATAAAAATGAGTTAGAAAGCTTCTTAACCAAACAGAAACTTAAAATGACCAAGAAAAAGAATATTTATGATTGGCAAAGGTTCGCTCTCTAGATAAGAACCAATTACAGAATCTAATTGGAATAAAGGAAGAAGAGAAACTTCATTTTTGGTGATCCACCTAAGCAAAAGTTTTATTCTATGTCCACTGTTAACTCTTCATTAAAAAAGAAATGTAGCCAAAGAGATTTCCTTCCTGAGAATGTGCTGGGGCATGCATACAGGCACACACACACCCACACAGCAGTCCACCTCTTCCAAAGCA... | GGTATGCATGTGCTGTGATAAAAATGAGTTAGAAAGCTTCTTAACCAAACAGAAACTTAAAATGACCAAGAAAAAGAATATTTATGATTGGCAAAGGTTCGCTCTCTAGATAAGAACCAATTACAGAATCTAATTGGAATAAAGGAAGAAGAGAAACTTCATTTTTGGTGATCCACCTAAGCAAAAGTTTTATTCTATGTCCACTGTTAACTCTTCATTAAAAAAGAAATGTAGCCAAAGAGATTTCCTTCCTGAGAATGTGCTGGGGCATGCATACAGGCACACACACACCCACACAGCAGTCCACCTCTTCCAAAGCA... |
Task1_train_4813 | Here is a variant affecting ITGA6 (integrin subunit alpha 6) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Epidermolysis bullosa | TCAAGATATATTTGTTAAAACTGTGTGCTCTCCAAAATCATCTACTGAATTTAAACCACTGCACCCCACTTTGGACTATAATTGACTGGAGTTACTGATTGGAAAGGAAGTGGTACACACCCCTAATATACTGACGGACTTACTCTGACAGCTGCTACCACCTGTGGGGACCCTTGATGATGTTCACGCAGCTTTTCTGAGTGGCACATGCTGTTCTCTTGAATACTCCTTGAGGTGAAGAAGAGGCCACCCCTACCCCTATGCACACACAGCTCCTGCTCTTTCCTGGGGCTGCACCCTGCTTGTATTTCCAATGCAGG... | TCAAGATATATTTGTTAAAACTGTGTGCTCTCCAAAATCATCTACTGAATTTAAACCACTGCACCCCACTTTGGACTATAATTGACTGGAGTTACTGATTGGAAAGGAAGTGGTACACACCCCTAATATACTGACGGACTTACTCTGACAGCTGCTACCACCTGTGGGGACCCTTGATGATGTTCACGCAGCTTTTCTGAGTGGCACATGCTGTTCTCTTGAATACTCCTTGAGGTGAAGAAGAGGCCACCCCTACCCCTATGCACACACAGCTCCTGCTCTTTCCTGGGGCTGCACCCTGCTTGTATTTCCAATGCAGG... |
Task1_train_4814 | This genomic variant is located on Chromosome 2, within the MAP3K20, MAP3K20-AS1 (mitogen-activated protein kinase kinase kinase 20| MAP3K20 antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Split-foot malformation-mesoaxial polydactyly syndrome | ACTTGAAAAAAAAGTGATATTAAATCTTTTTACAAGAACAGGGATGGCCTCGAGCCATGGTAGAGGAGGATCTGGTCAAGGCAGTGCTGGGCTGGTACACCGCTGAACCGGCTTTCCTTCCACCTCAGGCCTGTTTGAAAGTGAGGCATCATATTTGCCAGCCTTATTCTGGCCTCCCAAGTGGGAATAGACACAAGCACGCCCAGACATTCTCTGTAGCTTTAGCCAGAGAAGCCCTATGTTTTTGAGAGGCTGCACTCAGACTGTTGAAGTCCAAAAGAAGTCCTGCACTCTGCATTCTTGATAGAAACCCTGAGAAA... | ACTTGAAAAAAAAGTGATATTAAATCTTTTTACAAGAACAGGGATGGCCTCGAGCCATGGTAGAGGAGGATCTGGTCAAGGCAGTGCTGGGCTGGTACACCGCTGAACCGGCTTTCCTTCCACCTCAGGCCTGTTTGAAAGTGAGGCATCATATTTGCCAGCCTTATTCTGGCCTCCCAAGTGGGAATAGACACAAGCACGCCCAGACATTCTCTGTAGCTTTAGCCAGAGAAGCCCTATGTTTTTGAGAGGCTGCACTCAGACTGTTGAAGTCCAAAAGAAGTCCTGCACTCTGCATTCTTGATAGAAACCCTGAGAAA... |
Task1_train_4815 | Given this context: Chromosome 2, gene MAP3K20, MAP3K20-AS1 (mitogen-activated protein kinase kinase kinase 20| MAP3K20 antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Split hand-foot malformation 1 | ACTTGAAAAAAAAGTGATATTAAATCTTTTTACAAGAACAGGGATGGCCTCGAGCCATGGTAGAGGAGGATCTGGTCAAGGCAGTGCTGGGCTGGTACACCGCTGAACCGGCTTTCCTTCCACCTCAGGCCTGTTTGAAAGTGAGGCATCATATTTGCCAGCCTTATTCTGGCCTCCCAAGTGGGAATAGACACAAGCACGCCCAGACATTCTCTGTAGCTTTAGCCAGAGAAGCCCTATGTTTTTGAGAGGCTGCACTCAGACTGTTGAAGTCCAAAAGAAGTCCTGCACTCTGCATTCTTGATAGAAACCCTGAGAAA... | ACTTGAAAAAAAAGTGATATTAAATCTTTTTACAAGAACAGGGATGGCCTCGAGCCATGGTAGAGGAGGATCTGGTCAAGGCAGTGCTGGGCTGGTACACCGCTGAACCGGCTTTCCTTCCACCTCAGGCCTGTTTGAAAGTGAGGCATCATATTTGCCAGCCTTATTCTGGCCTCCCAAGTGGGAATAGACACAAGCACGCCCAGACATTCTCTGTAGCTTTAGCCAGAGAAGCCCTATGTTTTTGAGAGGCTGCACTCAGACTGTTGAAGTCCAAAAGAAGTCCTGCACTCTGCATTCTTGATAGAAACCCTGAGAAA... |
Task1_train_4816 | This mutation is located in gene CDCA7 (cell division cycle associated 7) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GAAAATAAAAGAAGAAAATCACAATTTCTTATCAAGTTGTAGCTTGGTATCATACACAATTGCATTCTGAGGAATTAAGGTGGTACAACTTAGGGAGATTTGGTGTGTCTGCTGTGATAGAAAAGATTTCTTTTTCCTGGCTTTCCCTGAGGAAAGGAAAGATGGAAAGAGGGAAGCCATACAGATATCCCTCTATTTTGCAGTGTAGAAACTGAATGTGTTTCTACAGGGTCAAGAGACATCAGAGAAAATTTTTTTTTTTAGAACAGAAGATCATTTCTTACATCTTCATTAAGTAAAAGAATAAATAGCTCATCTCT... | GAAAATAAAAGAAGAAAATCACAATTTCTTATCAAGTTGTAGCTTGGTATCATACACAATTGCATTCTGAGGAATTAAGGTGGTACAACTTAGGGAGATTTGGTGTGTCTGCTGTGATAGAAAAGATTTCTTTTTCCTGGCTTTCCCTGAGGAAAGGAAAGATGGAAAGAGGGAAGCCATACAGATATCCCTCTATTTTGCAGTGTAGAAACTGAATGTGTTTCTACAGGGTCAAGAGACATCAGAGAAAATTTTTTTTTTTAGAACAGAAGATCATTTCTTACATCTTCATTAAGTAAAAGAATAAATAGCTCATCTCT... |
Task1_train_4817 | This alteration in CDCA7 (cell division cycle associated 7) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Immunodeficiency-centromeric instability-facial anomalies syndrome 3 | AAAATAAAAGAAGAAAATCACAATTTCTTATCAAGTTGTAGCTTGGTATCATACACAATTGCATTCTGAGGAATTAAGGTGGTACAACTTAGGGAGATTTGGTGTGTCTGCTGTGATAGAAAAGATTTCTTTTTCCTGGCTTTCCCTGAGGAAAGGAAAGATGGAAAGAGGGAAGCCATACAGATATCCCTCTATTTTGCAGTGTAGAAACTGAATGTGTTTCTACAGGGTCAAGAGACATCAGAGAAAATTTTTTTTTTTAGAACAGAAGATCATTTCTTACATCTTCATTAAGTAAAAGAATAAATAGCTCATCTCTC... | AAAATAAAAGAAGAAAATCACAATTTCTTATCAAGTTGTAGCTTGGTATCATACACAATTGCATTCTGAGGAATTAAGGTGGTACAACTTAGGGAGATTTGGTGTGTCTGCTGTGATAGAAAAGATTTCTTTTTCCTGGCTTTCCCTGAGGAAAGGAAAGATGGAAAGAGGGAAGCCATACAGATATCCCTCTATTTTGCAGTGTAGAAACTGAATGTGTTTCTACAGGGTCAAGAGACATCAGAGAAAATTTTTTTTTTTAGAACAGAAGATCATTTCTTACATCTTCATTAAGTAAAAGAATAAATAGCTCATCTCTC... |
Task1_train_4818 | Mutation context: Chromosome 2, Gene CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital myasthenic syndrome 1A | GCAGGGGAAAGGCAAACTCATATCTCTCTTCTTGGAGATGGGACACCCTCCTCCTCTTGCCCTTGGACATCAGAACTCCAGGCTCTCTGGCTTTTGGACTCCAGGACTTAGACTGATGTTCCCTCTGGGTTCTTGGGCCTTCAGCCTTGGACTGAGAATTATACCATGGGCTTTTTTGGTTCTGAAGCCTTCAGATTTGGACTGAGCCATGCTACTGGAATCCCAGCTTGCAGACAACCTGTTGTGGGACTTCTCAGCCTCATAGATATATTTATGATTTCTCATATATATTATTTCTTTTCATCTTGTAAATTGTAATC... | GCAGGGGAAAGGCAAACTCATATCTCTCTTCTTGGAGATGGGACACCCTCCTCCTCTTGCCCTTGGACATCAGAACTCCAGGCTCTCTGGCTTTTGGACTCCAGGACTTAGACTGATGTTCCCTCTGGGTTCTTGGGCCTTCAGCCTTGGACTGAGAATTATACCATGGGCTTTTTTGGTTCTGAAGCCTTCAGATTTGGACTGAGCCATGCTACTGGAATCCCAGCTTGCAGACAACCTGTTGTGGGACTTCTCAGCCTCATAGATATATTTATGATTTCTCATATATATTATTTCTTTTCATCTTGTAAATTGTAATC... |
Task1_train_4819 | Gene CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Myasthenic syndrome, congenital, 1B, fast-channel | AATCTTATCATCAATAATAAGTATGGAATATAACACGTTTGATAAGTGCGAGTGGAGCAAGTAGACAAATCTTCCTCTCCTGCCCTTCTCTGCTCTGGTAGGTTCCAGGGCAGAGCTAAGCTCAGCTCATTTTCTGCTCATCCTTGCTGATTTAATTCAATGAGTCGACCTGCAAACACGGCTAGGGTTCCGATGATGCAAACAAGCATGAAGACTCCGAGGAGTATGTGGTCCATCACCATTGCAACGTACTTCCACTCTGCCGCCGCCTGGGAGAGAGGAAAATGTTAGACAGAGTCTCCCTAAGGTGGTTTCTGGAC... | AATCTTATCATCAATAATAAGTATGGAATATAACACGTTTGATAAGTGCGAGTGGAGCAAGTAGACAAATCTTCCTCTCCTGCCCTTCTCTGCTCTGGTAGGTTCCAGGGCAGAGCTAAGCTCAGCTCATTTTCTGCTCATCCTTGCTGATTTAATTCAATGAGTCGACCTGCAAACACGGCTAGGGTTCCGATGATGCAAACAAGCATGAAGACTCCGAGGAGTATGTGGTCCATCACCATTGCAACGTACTTCCACTCTGCCGCCGCCTGGGAGAGAGGAAAATGTTAGACAGAGTCTCCCTAAGGTGGTTTCTGGAC... |
Task1_train_4820 | This sequence variant lies in CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Congenital myasthenic syndrome 1A | GCGAGTGGAGCAAGTAGACAAATCTTCCTCTCCTGCCCTTCTCTGCTCTGGTAGGTTCCAGGGCAGAGCTAAGCTCAGCTCATTTTCTGCTCATCCTTGCTGATTTAATTCAATGAGTCGACCTGCAAACACGGCTAGGGTTCCGATGATGCAAACAAGCATGAAGACTCCGAGGAGTATGTGGTCCATCACCATTGCAACGTACTTCCACTCTGCCGCCGCCTGGGAGAGAGGAAAATGTTAGACAGAGTCTCCCTAAGGTGGTTTCTGGACTCACAACGTTTGTGCTTTGCATCAACTATGGGCCCTTCAATTTGTAG... | GCGAGTGGAGCAAGTAGACAAATCTTCCTCTCCTGCCCTTCTCTGCTCTGGTAGGTTCCAGGGCAGAGCTAAGCTCAGCTCATTTTCTGCTCATCCTTGCTGATTTAATTCAATGAGTCGACCTGCAAACACGGCTAGGGTTCCGATGATGCAAACAAGCATGAAGACTCCGAGGAGTATGTGGTCCATCACCATTGCAACGTACTTCCACTCTGCCGCCGCCTGGGAGAGAGGAAAATGTTAGACAGAGTCTCCCTAAGGTGGTTTCTGGACTCACAACGTTTGTGCTTTGCATCAACTATGGGCCCTTCAATTTGTAG... |
Task1_train_4821 | Consider a variant on Chromosome 2 in gene CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit). Determine its clinical classification and disease relevance. | Pathogenic; Myasthenic syndrome, congenital, 1B, fast-channel | CTCTGCTCTGGTAGGTTCCAGGGCAGAGCTAAGCTCAGCTCATTTTCTGCTCATCCTTGCTGATTTAATTCAATGAGTCGACCTGCAAACACGGCTAGGGTTCCGATGATGCAAACAAGCATGAAGACTCCGAGGAGTATGTGGTCCATCACCATTGCAACGTACTTCCACTCTGCCGCCGCCTGGGAGAGAGGAAAATGTTAGACAGAGTCTCCCTAAGGTGGTTTCTGGACTCACAACGTTTGTGCTTTGCATCAACTATGGGCCCTTCAATTTGTAGATCTCAAAGTCCTCCCATCCCTTGGCTGGCATCGTCTTTA... | CTCTGCTCTGGTAGGTTCCAGGGCAGAGCTAAGCTCAGCTCATTTTCTGCTCATCCTTGCTGATTTAATTCAATGAGTCGACCTGCAAACACGGCTAGGGTTCCGATGATGCAAACAAGCATGAAGACTCCGAGGAGTATGTGGTCCATCACCATTGCAACGTACTTCCACTCTGCCGCCGCCTGGGAGAGAGGAAAATGTTAGACAGAGTCTCCCTAAGGTGGTTTCTGGACTCACAACGTTTGTGCTTTGCATCAACTATGGGCCCTTCAATTTGTAGATCTCAAAGTCCTCCCATCCCTTGGCTGGCATCGTCTTTA... |
Task1_train_4822 | Assess the clinical impact of this variant on gene CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital myasthenic syndrome 1A | CTCTGGTAGGTTCCAGGGCAGAGCTAAGCTCAGCTCATTTTCTGCTCATCCTTGCTGATTTAATTCAATGAGTCGACCTGCAAACACGGCTAGGGTTCCGATGATGCAAACAAGCATGAAGACTCCGAGGAGTATGTGGTCCATCACCATTGCAACGTACTTCCACTCTGCCGCCGCCTGGGAGAGAGGAAAATGTTAGACAGAGTCTCCCTAAGGTGGTTTCTGGACTCACAACGTTTGTGCTTTGCATCAACTATGGGCCCTTCAATTTGTAGATCTCAAAGTCCTCCCATCCCTTGGCTGGCATCGTCTTTATTTTT... | CTCTGGTAGGTTCCAGGGCAGAGCTAAGCTCAGCTCATTTTCTGCTCATCCTTGCTGATTTAATTCAATGAGTCGACCTGCAAACACGGCTAGGGTTCCGATGATGCAAACAAGCATGAAGACTCCGAGGAGTATGTGGTCCATCACCATTGCAACGTACTTCCACTCTGCCGCCGCCTGGGAGAGAGGAAAATGTTAGACAGAGTCTCCCTAAGGTGGTTTCTGGACTCACAACGTTTGTGCTTTGCATCAACTATGGGCCCTTCAATTTGTAGATCTCAAAGTCCTCCCATCCCTTGGCTGGCATCGTCTTTATTTTT... |
Task1_train_4823 | A variant was discovered in gene CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Lethal multiple pterygium syndrome | ACAAACAAGAAATTGTCAATTCTACCTGGTGGGTAGGAAAACCTTTCAAAGTGAAAAAGAATACAATTACAAATACAAAATATTTGTCCACTTATATAAAATTTGTTGATTAATAATAATGATAATAATAATAGCCAACATTTATCAAGCATAATTTTTGTGCTAAGTGCTTTTCTTTTTTCTTTCTTTCTTTTCTTTCTTTTTTTCTTCTTTTTTTTTTTGTGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTTCAGTGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTC... | ACAAACAAGAAATTGTCAATTCTACCTGGTGGGTAGGAAAACCTTTCAAAGTGAAAAAGAATACAATTACAAATACAAAATATTTGTCCACTTATATAAAATTTGTTGATTAATAATAATGATAATAATAATAGCCAACATTTATCAAGCATAATTTTTGTGCTAAGTGCTTTTCTTTTTTCTTTCTTTCTTTTCTTTCTTTTTTTCTTCTTTTTTTTTTTGTGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTTCAGTGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTC... |
Task1_train_4824 | This sequence variant lies in CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Slow-Channel Congenital Myasthenia Syndrome | TCTACCTGGTGGGTAGGAAAACCTTTCAAAGTGAAAAAGAATACAATTACAAATACAAAATATTTGTCCACTTATATAAAATTTGTTGATTAATAATAATGATAATAATAATAGCCAACATTTATCAAGCATAATTTTTGTGCTAAGTGCTTTTCTTTTTTCTTTCTTTCTTTTCTTTCTTTTTTTCTTCTTTTTTTTTTTGTGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTTCAGTGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAATTGGGA... | TCTACCTGGTGGGTAGGAAAACCTTTCAAAGTGAAAAAGAATACAATTACAAATACAAAATATTTGTCCACTTATATAAAATTTGTTGATTAATAATAATGATAATAATAATAGCCAACATTTATCAAGCATAATTTTTGTGCTAAGTGCTTTTCTTTTTTCTTTCTTTCTTTTCTTTCTTTTTTTCTTCTTTTTTTTTTTGTGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTTCAGTGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAATTGGGA... |
Task1_train_4825 | Consider a variant on Chromosome 2 in gene CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit). Determine its clinical classification and disease relevance. | Pathogenic; Congenital myasthenic syndrome 1A | CAAAGTGAAAAAGAATACAATTACAAATACAAAATATTTGTCCACTTATATAAAATTTGTTGATTAATAATAATGATAATAATAATAGCCAACATTTATCAAGCATAATTTTTGTGCTAAGTGCTTTTCTTTTTTCTTTCTTTCTTTTCTTTCTTTTTTTCTTCTTTTTTTTTTTGTGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTTCAGTGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAATTGGGATTACAGGCACGTGCCACCACACCTGG... | CAAAGTGAAAAAGAATACAATTACAAATACAAAATATTTGTCCACTTATATAAAATTTGTTGATTAATAATAATGATAATAATAATAGCCAACATTTATCAAGCATAATTTTTGTGCTAAGTGCTTTTCTTTTTTCTTTCTTTCTTTTCTTTCTTTTTTTCTTCTTTTTTTTTTTGTGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTTCAGTGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAATTGGGATTACAGGCACGTGCCACCACACCTGG... |
Task1_train_4826 | This variant affects the gene CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Lethal multiple pterygium syndrome | CAAAGTGAAAAAGAATACAATTACAAATACAAAATATTTGTCCACTTATATAAAATTTGTTGATTAATAATAATGATAATAATAATAGCCAACATTTATCAAGCATAATTTTTGTGCTAAGTGCTTTTCTTTTTTCTTTCTTTCTTTTCTTTCTTTTTTTCTTCTTTTTTTTTTTGTGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTTCAGTGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAATTGGGATTACAGGCACGTGCCACCACACCTGG... | CAAAGTGAAAAAGAATACAATTACAAATACAAAATATTTGTCCACTTATATAAAATTTGTTGATTAATAATAATGATAATAATAATAGCCAACATTTATCAAGCATAATTTTTGTGCTAAGTGCTTTTCTTTTTTCTTTCTTTCTTTTCTTTCTTTTTTTCTTCTTTTTTTTTTTGTGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTTCAGTGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAATTGGGATTACAGGCACGTGCCACCACACCTGG... |
Task1_train_4827 | This alteration in CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Lethal multiple pterygium syndrome | AATACAAAATATTTGTCCACTTATATAAAATTTGTTGATTAATAATAATGATAATAATAATAGCCAACATTTATCAAGCATAATTTTTGTGCTAAGTGCTTTTCTTTTTTCTTTCTTTCTTTTCTTTCTTTTTTTCTTCTTTTTTTTTTTGTGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTTCAGTGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAATTGGGATTACAGGCACGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAATAGAG... | AATACAAAATATTTGTCCACTTATATAAAATTTGTTGATTAATAATAATGATAATAATAATAGCCAACATTTATCAAGCATAATTTTTGTGCTAAGTGCTTTTCTTTTTTCTTTCTTTCTTTTCTTTCTTTTTTTCTTCTTTTTTTTTTTGTGAGGGAGTCTCACTCTGTTGCCCAGGCTGGAGTTCAGTGGTGCCATCTCAGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAATTGGGATTACAGGCACGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAATAGAG... |
Task1_train_4828 | Consider this mutation in CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Myasthenic syndrome, congenital, 1B, fast-channel | TGTTTGTGATTATTTGTTTAAAAACAAGTGCAGGGCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCTTTGAGCCCAGGAGTTCGAGACTGGCCTCGGCAACATGGTGCAACCCCGTTTCTACAAAAAATACAAAAATTAGCCGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGAAAGGGTCACTTGAGCTCAGGAGGTTGAGGCTGCAGTGAGCCGTGATCATGCCACTGTACTGCAGCCTGGGCAACAGAGTGAGACCCGGTCTCAAAACAA... | TGTTTGTGATTATTTGTTTAAAAACAAGTGCAGGGCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGCAGATCTTTGAGCCCAGGAGTTCGAGACTGGCCTCGGCAACATGGTGCAACCCCGTTTCTACAAAAAATACAAAAATTAGCCGAGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGAAAGGGTCACTTGAGCTCAGGAGGTTGAGGCTGCAGTGAGCCGTGATCATGCCACTGTACTGCAGCCTGGGCAACAGAGTGAGACCCGGTCTCAAAACAA... |
Task1_train_4829 | This sequence change occurs on Chromosome 2, altering CHN1 (chimerin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal dominant Robinow syndrome 2 | GTGAAACATGCTGGATTACAAGCACAGACTACCCAGGACGCAGAGGCGGTGCAGGCGCAGGTTTGTTGTTTCTTCTGTATGGGGTTTCCTTGCCAGATAGGGGGCTAATCATGCAATAGCTTGAGTTTCTCTGAACGTGATAAACACCCAGGATTACTAGAACCAGAAAGCGTGTGTTCACTGTTTTACAAGACAGCTGAGCGGTGCTACAAAAACAACAGAAAGTTCCTTCACTTTAATCTGGTTATATGCCCAAACCTCTAATCAAGAAATAATGCAGCTACAGGAGCAAATTAAATTACTATAAAACATTCCTTCAT... | GTGAAACATGCTGGATTACAAGCACAGACTACCCAGGACGCAGAGGCGGTGCAGGCGCAGGTTTGTTGTTTCTTCTGTATGGGGTTTCCTTGCCAGATAGGGGGCTAATCATGCAATAGCTTGAGTTTCTCTGAACGTGATAAACACCCAGGATTACTAGAACCAGAAAGCGTGTGTTCACTGTTTTACAAGACAGCTGAGCGGTGCTACAAAAACAACAGAAAGTTCCTTCACTTTAATCTGGTTATATGCCCAAACCTCTAATCAAGAAATAATGCAGCTACAGGAGCAAATTAAATTACTATAAAACATTCCTTCAT... |
Task1_train_4830 | A mutation in CHN1 (chimerin 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Duane retraction syndrome 2 | TTAACCAATCAATGGAAAATAGATTTAAACAAGCTAGGGGCCTAAAAGAGTAACATGCCGGGGCTTACTATGTACGTTGTTATTAAACTGGTTCTTTTAAAACCTGCTTTTTAGTAAGTATACACAAATACACAAATATATTCTTCCATCTGTATTATCTATTTACTTATTTTCTGTTTTAAAATAATGTAAACAAATCCTGGAATCTGATATCCACATACTACATTCTAAGTAGGGCTATACCATATCAGCAAGACGTCTATAACATCTCTGTTTCCTGATTGTTTCTTTACTTTCTGCTCTTGCCTCCAGCAGACTAG... | TTAACCAATCAATGGAAAATAGATTTAAACAAGCTAGGGGCCTAAAAGAGTAACATGCCGGGGCTTACTATGTACGTTGTTATTAAACTGGTTCTTTTAAAACCTGCTTTTTAGTAAGTATACACAAATACACAAATATATTCTTCCATCTGTATTATCTATTTACTTATTTTCTGTTTTAAAATAATGTAAACAAATCCTGGAATCTGATATCCACATACTACATTCTAAGTAGGGCTATACCATATCAGCAAGACGTCTATAACATCTCTGTTTCCTGATTGTTTCTTTACTTTCTGCTCTTGCCTCCAGCAGACTAG... |
Task1_train_4831 | This variant affects the gene CHN1 (chimerin 1) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Duane retraction syndrome 2 | TTCAGGTCACAAAATGGTTGTCTCATATTTTCTATACAGGAAACTGTGTCATTTCTTTGCTCTCTGGGGTCCATAGGAACATTCAGTTTCTTTGTCAGTGTGAATTTATTTTTGAGACTCATAGCCAGAGGCTGGGAATGGACATGCTCAGTTGCAGAGCTTCCAGAGTAAAGAGATGCTTCTTCCCATTCAATCTGGCAGGGATTCAGGACTGCTCTTCCTGATGCTTATTTGGAGTGAATACACCATTAATTCACCTCCCTTTCTTTGCTCTTATCACATACATGGGCTGGCCTAGTTTCCCTCAGGTTGGTAATGAA... | TTCAGGTCACAAAATGGTTGTCTCATATTTTCTATACAGGAAACTGTGTCATTTCTTTGCTCTCTGGGGTCCATAGGAACATTCAGTTTCTTTGTCAGTGTGAATTTATTTTTGAGACTCATAGCCAGAGGCTGGGAATGGACATGCTCAGTTGCAGAGCTTCCAGAGTAAAGAGATGCTTCTTCCCATTCAATCTGGCAGGGATTCAGGACTGCTCTTCCTGATGCTTATTTGGAGTGAATACACCATTAATTCACCTCCCTTTCTTTGCTCTTATCACATACATGGGCTGGCCTAGTTTCCCTCAGGTTGGTAATGAA... |
Task1_train_4832 | A genetic alteration is present in CHN1 (chimerin 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Duane retraction syndrome 2 | TCAGGTCACAAAATGGTTGTCTCATATTTTCTATACAGGAAACTGTGTCATTTCTTTGCTCTCTGGGGTCCATAGGAACATTCAGTTTCTTTGTCAGTGTGAATTTATTTTTGAGACTCATAGCCAGAGGCTGGGAATGGACATGCTCAGTTGCAGAGCTTCCAGAGTAAAGAGATGCTTCTTCCCATTCAATCTGGCAGGGATTCAGGACTGCTCTTCCTGATGCTTATTTGGAGTGAATACACCATTAATTCACCTCCCTTTCTTTGCTCTTATCACATACATGGGCTGGCCTAGTTTCCCTCAGGTTGGTAATGAAT... | TCAGGTCACAAAATGGTTGTCTCATATTTTCTATACAGGAAACTGTGTCATTTCTTTGCTCTCTGGGGTCCATAGGAACATTCAGTTTCTTTGTCAGTGTGAATTTATTTTTGAGACTCATAGCCAGAGGCTGGGAATGGACATGCTCAGTTGCAGAGCTTCCAGAGTAAAGAGATGCTTCTTCCCATTCAATCTGGCAGGGATTCAGGACTGCTCTTCCTGATGCTTATTTGGAGTGAATACACCATTAATTCACCTCCCTTTCTTTGCTCTTATCACATACATGGGCTGGCCTAGTTTCCCTCAGGTTGGTAATGAAT... |
Task1_train_4833 | This mutation occurs in CHN1 (chimerin 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Duane retraction syndrome 2 | TATTCCCAAAGATTATTCATAGGTGCTGTACCTATTCTCTATTAATAGTTAAGAATTCTTATGTAGATGGGCTTCACTTTTTCAAAATGGAAACAATATACACCCTTACTCATGAAAGAAAAGCTTTTAAGTTTGTGACAGTCATAAAACATTTAAAAAACTATTGCAGAGTATCAGCTGGACAAGACTGTCTCATAAAGGCAAACTGGGCTCATTGAGACCATTGTTCTCGAGCAGGCAATTTGTGCTTTGGAAAGAGTATTCCATCTGCCTTTGTGAAACTGCAATGCACACTGCCTCAATACCTCCACTTTATCAAC... | TATTCCCAAAGATTATTCATAGGTGCTGTACCTATTCTCTATTAATAGTTAAGAATTCTTATGTAGATGGGCTTCACTTTTTCAAAATGGAAACAATATACACCCTTACTCATGAAAGAAAAGCTTTTAAGTTTGTGACAGTCATAAAACATTTAAAAAACTATTGCAGAGTATCAGCTGGACAAGACTGTCTCATAAAGGCAAACTGGGCTCATTGAGACCATTGTTCTCGAGCAGGCAATTTGTGCTTTGGAAAGAGTATTCCATCTGCCTTTGTGAAACTGCAATGCACACTGCCTCAATACCTCCACTTTATCAAC... |
Task1_train_4834 | This genomic variant is located on Chromosome 2, within the CHN1 (chimerin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Duane retraction syndrome 2 | ATTCATAGGTGCTGTACCTATTCTCTATTAATAGTTAAGAATTCTTATGTAGATGGGCTTCACTTTTTCAAAATGGAAACAATATACACCCTTACTCATGAAAGAAAAGCTTTTAAGTTTGTGACAGTCATAAAACATTTAAAAAACTATTGCAGAGTATCAGCTGGACAAGACTGTCTCATAAAGGCAAACTGGGCTCATTGAGACCATTGTTCTCGAGCAGGCAATTTGTGCTTTGGAAAGAGTATTCCATCTGCCTTTGTGAAACTGCAATGCACACTGCCTCAATACCTCCACTTTATCAACACTTTCCATTCTAC... | ATTCATAGGTGCTGTACCTATTCTCTATTAATAGTTAAGAATTCTTATGTAGATGGGCTTCACTTTTTCAAAATGGAAACAATATACACCCTTACTCATGAAAGAAAAGCTTTTAAGTTTGTGACAGTCATAAAACATTTAAAAAACTATTGCAGAGTATCAGCTGGACAAGACTGTCTCATAAAGGCAAACTGGGCTCATTGAGACCATTGTTCTCGAGCAGGCAATTTGTGCTTTGGAAAGAGTATTCCATCTGCCTTTGTGAAACTGCAATGCACACTGCCTCAATACCTCCACTTTATCAACACTTTCCATTCTAC... |
Task1_train_4835 | This alteration in CHN1 (chimerin 1) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Duane retraction syndrome 2 | TAGATTTAAGATGCATGCGGTTTAAAGCAAAGAGTAATTTTAAAAATGATTCTTAATTATGTACTGCCGCAGAGAGATACTTCCCAGTGCCAGCAATTTCACTCTCAGTAGCTATCGCTGTCCACCAGCACAAAACAAGACCAGGGAATTCAGTACAGAAAGTTGCTAGAATACACAGGGAATCATGACTCCTGGAGCTACAAGGGTGTTCTAGGTATCTACCTCAGCTTACTATCTCTGTGAATATCAGTTCCACTTTGACTGGGGGACAACCAAGGCCTGGTGAAGTCAAATGACTTGCCTAATGTTAAACAGCTAAG... | TAGATTTAAGATGCATGCGGTTTAAAGCAAAGAGTAATTTTAAAAATGATTCTTAATTATGTACTGCCGCAGAGAGATACTTCCCAGTGCCAGCAATTTCACTCTCAGTAGCTATCGCTGTCCACCAGCACAAAACAAGACCAGGGAATTCAGTACAGAAAGTTGCTAGAATACACAGGGAATCATGACTCCTGGAGCTACAAGGGTGTTCTAGGTATCTACCTCAGCTTACTATCTCTGTGAATATCAGTTCCACTTTGACTGGGGGACAACCAAGGCCTGGTGAAGTCAAATGACTTGCCTAATGTTAAACAGCTAAG... |
Task1_train_4836 | A mutation in CHN1 (chimerin 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Duane retraction syndrome 2 | TTAAGATGCATGCGGTTTAAAGCAAAGAGTAATTTTAAAAATGATTCTTAATTATGTACTGCCGCAGAGAGATACTTCCCAGTGCCAGCAATTTCACTCTCAGTAGCTATCGCTGTCCACCAGCACAAAACAAGACCAGGGAATTCAGTACAGAAAGTTGCTAGAATACACAGGGAATCATGACTCCTGGAGCTACAAGGGTGTTCTAGGTATCTACCTCAGCTTACTATCTCTGTGAATATCAGTTCCACTTTGACTGGGGGACAACCAAGGCCTGGTGAAGTCAAATGACTTGCCTAATGTTAAACAGCTAAGTGTCT... | TTAAGATGCATGCGGTTTAAAGCAAAGAGTAATTTTAAAAATGATTCTTAATTATGTACTGCCGCAGAGAGATACTTCCCAGTGCCAGCAATTTCACTCTCAGTAGCTATCGCTGTCCACCAGCACAAAACAAGACCAGGGAATTCAGTACAGAAAGTTGCTAGAATACACAGGGAATCATGACTCCTGGAGCTACAAGGGTGTTCTAGGTATCTACCTCAGCTTACTATCTCTGTGAATATCAGTTCCACTTTGACTGGGGGACAACCAAGGCCTGGTGAAGTCAAATGACTTGCCTAATGTTAAACAGCTAAGTGTCT... |
Task1_train_4837 | Mutation context: Chromosome 2, Gene CHN1 (chimerin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Duane retraction syndrome 2 | TTCTTAATTATGTACTGCCGCAGAGAGATACTTCCCAGTGCCAGCAATTTCACTCTCAGTAGCTATCGCTGTCCACCAGCACAAAACAAGACCAGGGAATTCAGTACAGAAAGTTGCTAGAATACACAGGGAATCATGACTCCTGGAGCTACAAGGGTGTTCTAGGTATCTACCTCAGCTTACTATCTCTGTGAATATCAGTTCCACTTTGACTGGGGGACAACCAAGGCCTGGTGAAGTCAAATGACTTGCCTAATGTTAAACAGCTAAGTGTCTTTAGCTAAAGTCCCTTGGTGTTGGAAAGCACGTTCAGAATGCAT... | TTCTTAATTATGTACTGCCGCAGAGAGATACTTCCCAGTGCCAGCAATTTCACTCTCAGTAGCTATCGCTGTCCACCAGCACAAAACAAGACCAGGGAATTCAGTACAGAAAGTTGCTAGAATACACAGGGAATCATGACTCCTGGAGCTACAAGGGTGTTCTAGGTATCTACCTCAGCTTACTATCTCTGTGAATATCAGTTCCACTTTGACTGGGGGACAACCAAGGCCTGGTGAAGTCAAATGACTTGCCTAATGTTAAACAGCTAAGTGTCTTTAGCTAAAGTCCCTTGGTGTTGGAAAGCACGTTCAGAATGCAT... |
Task1_train_4838 | Mutation context: Chromosome 2, Gene CHN1 (chimerin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Duane retraction syndrome 2 | TACAAAAATTAGCCAGACATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCAGAGGTAGGAGTATCACTTGAGCTCAGGAGGTTGAGGCTGCAGTGAGCCAGATCACACCACTGGACTCTAGCCTGGGAGATAAAGCAAGACTCTATCTAAAAAAAAAAATAAAAAGTTAAGTAAATAAGTAAATAAATAAATAAAAGCTATTTAAGTTATCTTTTTTGGTGATTATGCTGTGAATTTGTAAGGTTCATTTGTTCTTATTTGTATTCAATTTTAGGGTTTGCTTGTGTGTGTGTGTGTGTGTGTGTGTGTATGT... | TACAAAAATTAGCCAGACATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCAGAGGTAGGAGTATCACTTGAGCTCAGGAGGTTGAGGCTGCAGTGAGCCAGATCACACCACTGGACTCTAGCCTGGGAGATAAAGCAAGACTCTATCTAAAAAAAAAAATAAAAAGTTAAGTAAATAAGTAAATAAATAAATAAAAGCTATTTAAGTTATCTTTTTTGGTGATTATGCTGTGAATTTGTAAGGTTCATTTGTTCTTATTTGTATTCAATTTTAGGGTTTGCTTGTGTGTGTGTGTGTGTGTGTGTGTGTATGT... |
Task1_train_4839 | Here is a mutation in ATP5MC3 (ATP synthase membrane subunit c locus 3) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Dystonia, early-onset, and/or spastic paraplegia | GTACTTTGTATTAAATAGTAGTTTCAGTAAGACATGTAAAATTTGCCATTTTAACCACCTTAAAGTGTACAATTCAGTGACATTTATTATATTTACAATGTTGTGCAACCATCACCACTAATTCATCAAATTTTAATAATCTTTTAATTTTTGAGCCAGATTTAGCAGTGAGGGGCTATATACCAACTTTAATGACACTAATGTTAATAAGTTCTGATAACCCACTACCATCAGACCAGCTGTAATTCATCCAATTTTCATCATCCTAAAAGGAATCCCCATACGCATTACGCAGTCACTCCCTTTTCACCCCCTCCCTA... | GTACTTTGTATTAAATAGTAGTTTCAGTAAGACATGTAAAATTTGCCATTTTAACCACCTTAAAGTGTACAATTCAGTGACATTTATTATATTTACAATGTTGTGCAACCATCACCACTAATTCATCAAATTTTAATAATCTTTTAATTTTTGAGCCAGATTTAGCAGTGAGGGGCTATATACCAACTTTAATGACACTAATGTTAATAAGTTCTGATAACCCACTACCATCAGACCAGCTGTAATTCATCCAATTTTCATCATCCTAAAAGGAATCCCCATACGCATTACGCAGTCACTCCCTTTTCACCCCCTCCCTA... |
Task1_train_4840 | This sequence variant lies in ATP5MC3 (ATP synthase membrane subunit c locus 3) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Dystonia, early-onset, and/or spastic paraplegia | CTTAGTGACTCTCAAACAGTATGCACAAAAACCACCTGGGAAGCCTTTTTAAAGATGTAGATTGCTGAGTCTCATGTCCAAAGAGTCCAATTCAGTAGGTCTGGAACCTAGGGATTTTTATTTTTTAAACAAGCACTGATTCTGATGGAGGTGGTCTTCCGACACTTGAGGAACTTTGGTGACTGCTCTTTCTCAATGGAAATCAAACAGGCAAAGGGCACTAAGAAAAGTAAAATGTCACTTTCCTAATTATCAACTTTCAAAAAACCCTGAAACTTGGATGATAGATATTATGGTACAATATATTTGCTAGGGGAAAA... | CTTAGTGACTCTCAAACAGTATGCACAAAAACCACCTGGGAAGCCTTTTTAAAGATGTAGATTGCTGAGTCTCATGTCCAAAGAGTCCAATTCAGTAGGTCTGGAACCTAGGGATTTTTATTTTTTAAACAAGCACTGATTCTGATGGAGGTGGTCTTCCGACACTTGAGGAACTTTGGTGACTGCTCTTTCTCAATGGAAATCAAACAGGCAAAGGGCACTAAGAAAAGTAAAATGTCACTTTCCTAATTATCAACTTTCAAAAAACCCTGAAACTTGGATGATAGATATTATGGTACAATATATTTGCTAGGGGAAAA... |
Task1_train_4841 | Gene HOXD13 (homeobox D13) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Synpolydactyly type 1 | CTGTAATCCCTAACACCCTGGCAGCTTGGTTCCAGAGCTGGACCTAGCCCCACCAGCACTGCCCTGAGCCCACCTAACCCCTTGAAGTCAGACCGTTTCTCTGGGCTGCTCCTATCACAAAATCCGAATTTGCTTGGAACAAGCGCCCTCTTAATTTGCCCCTCTCAGTTCTCTGCAGTTGACAGCTTGGAAAAGGAAGCGAAACAAAGGTCCCTGGGAAAGTGAAGTTTTCAATTAATTTGGTGTGAGAAACGGGCGGGAGTGGGTGGTGACTGCAAAATGCGAGGCCGGTCGGCTGCTGGAGAGACACAGAAGTTTCA... | CTGTAATCCCTAACACCCTGGCAGCTTGGTTCCAGAGCTGGACCTAGCCCCACCAGCACTGCCCTGAGCCCACCTAACCCCTTGAAGTCAGACCGTTTCTCTGGGCTGCTCCTATCACAAAATCCGAATTTGCTTGGAACAAGCGCCCTCTTAATTTGCCCCTCTCAGTTCTCTGCAGTTGACAGCTTGGAAAAGGAAGCGAAACAAAGGTCCCTGGGAAAGTGAAGTTTTCAATTAATTTGGTGTGAGAAACGGGCGGGAGTGGGTGGTGACTGCAAAATGCGAGGCCGGTCGGCTGCTGGAGAGACACAGAAGTTTCA... |
Task1_train_4842 | Chromosome 2 houses a mutation in gene HOXD13 (homeobox D13). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Synpolydactyly type 1 | CTGTAATCCCTAACACCCTGGCAGCTTGGTTCCAGAGCTGGACCTAGCCCCACCAGCACTGCCCTGAGCCCACCTAACCCCTTGAAGTCAGACCGTTTCTCTGGGCTGCTCCTATCACAAAATCCGAATTTGCTTGGAACAAGCGCCCTCTTAATTTGCCCCTCTCAGTTCTCTGCAGTTGACAGCTTGGAAAAGGAAGCGAAACAAAGGTCCCTGGGAAAGTGAAGTTTTCAATTAATTTGGTGTGAGAAACGGGCGGGAGTGGGTGGTGACTGCAAAATGCGAGGCCGGTCGGCTGCTGGAGAGACACAGAAGTTTCA... | CTGTAATCCCTAACACCCTGGCAGCTTGGTTCCAGAGCTGGACCTAGCCCCACCAGCACTGCCCTGAGCCCACCTAACCCCTTGAAGTCAGACCGTTTCTCTGGGCTGCTCCTATCACAAAATCCGAATTTGCTTGGAACAAGCGCCCTCTTAATTTGCCCCTCTCAGTTCTCTGCAGTTGACAGCTTGGAAAAGGAAGCGAAACAAAGGTCCCTGGGAAAGTGAAGTTTTCAATTAATTTGGTGTGAGAAACGGGCGGGAGTGGGTGGTGACTGCAAAATGCGAGGCCGGTCGGCTGCTGGAGAGACACAGAAGTTTCA... |
Task1_train_4843 | A variant was discovered in gene HOXD13 (homeobox D13), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Synpolydactyly type 1 | CAGGCTCCCCCGCGTTCCTACCCCCACGTGGCCGCGCGCAGCCAATGGCACGCCCCCGGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCC... | CAGGCTCCCCCGCGTTCCTACCCCCACGTGGCCGCGCGCAGCCAATGGCACGCCCCCGGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCC... |
Task1_train_4844 | A mutation in HOXD13 (homeobox D13), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Synpolydactyly type 1 | AGGCTCCCCCGCGTTCCTACCCCCACGTGGCCGCGCGCAGCCAATGGCACGCCCCCGGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCG... | AGGCTCCCCCGCGTTCCTACCCCCACGTGGCCGCGCGCAGCCAATGGCACGCCCCCGGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCG... |
Task1_train_4845 | A genetic alteration is present in HOXD13 (homeobox D13) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Inborn genetic diseases | CCGCGCGCAGCCAATGGCACGCCCCCGGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCGGGCCATGAGCCGCGCCGGGAGCTGGGACAT... | CCGCGCGCAGCCAATGGCACGCCCCCGGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCGGGCCATGAGCCGCGCCGGGAGCTGGGACAT... |
Task1_train_4846 | This alteration in HOXD13 (homeobox D13) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Brachydactyly type E | CACGCCCCCGGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCGGGCCATGAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGCAG... | CACGCCCCCGGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCGGGCCATGAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGCAG... |
Task1_train_4847 | A genetic alteration is present in HOXD13 (homeobox D13) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Brachydactyly type D | CACGCCCCCGGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCGGGCCATGAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGCAG... | CACGCCCCCGGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCGGGCCATGAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGCAG... |
Task1_train_4848 | This variant affects gene HOXD13 (homeobox D13) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Brachydactyly-syndactyly-oligodactyly syndrome | GGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCGGGCCATGAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGCAGACGGCGGGG... | GGCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCGGGCCATGAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGCAGACGGCGGGG... |
Task1_train_4849 | A variant was discovered on Chromosome 2, affecting HOXD13 (homeobox D13). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Syndactyly type 5 | GCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCGGGCCATGAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGCAGACGGCGGGGG... | GCGGGGGCCCTCGGGGCGGGAGGCGGCCCCCCGACCGGCCCAGGCCCCCTCCCAACCTGAACTTCGTTTTTATAAACGTCCCGCGATGAGCTAACCTGTTGGAGGGCAGGCGGGCCGGAGGCGGGAGGCTCACAGAGGGAGAGAGGGCTAGAGGAAGAGGGCGGGAGCGAGCGAACCAGAGAGAAAGGAGAGGAGGGAGGAGGCGCGCCGCGCCATGGTGTCCTGCGCGGGGCCAGGGCCAGGGCCGGGGCCGGGCCAGGCCGGGCCATGAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGCAGACGGCGGGGG... |
Task1_train_4850 | A variant has been detected on Chromosome 2 in HOXD10 (homeobox D10). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Congenital vertical talus | ACACAGCAAGTCCCCACTTGCTCCTTCACCACCAACATTAAGGAAGAATCCAATTGCTGCATGTATTCTGATAAGCGCAACAAACTCATTTCGGCCGAGGTCCCTTCGTACCAGAGGCTGGTCCCTGAGTCTTGTCCCGTTGAGAACCCTGAGGTTCCCGTCCCTGGATATTTTAGACTGAGTCAGACCTACGCCACCGGGAAAACCCAAGAGTACAATAATAGCCCCGAAGGCAGCTCCACTGTCATGCTCCAGCTCAACCCTCGTGGCGCGGCCAAGCCGCAGCTCTCCGCTGCCCAGCTGCAGATGGAAAAGAAGAT... | ACACAGCAAGTCCCCACTTGCTCCTTCACCACCAACATTAAGGAAGAATCCAATTGCTGCATGTATTCTGATAAGCGCAACAAACTCATTTCGGCCGAGGTCCCTTCGTACCAGAGGCTGGTCCCTGAGTCTTGTCCCGTTGAGAACCCTGAGGTTCCCGTCCCTGGATATTTTAGACTGAGTCAGACCTACGCCACCGGGAAAACCCAAGAGTACAATAATAGCCCCGAAGGCAGCTCCACTGTCATGCTCCAGCTCAACCCTCGTGGCGCGGCCAAGCCGCAGCTCTCCGCTGCCCAGCTGCAGATGGAAAAGAAGAT... |
Task1_train_4851 | The gene MTX2 (metaxin 2) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Progeroid mandibuloacral dysplasia | TAAGACGCTGCTGTGTTTATGTCAATGTAAATTATTGGGTAAATTTAAATGCTGTTTAAGAAGCTTCCTTTTGCTGAGGGAGATGAAAATATGACTTAACCTTAAAAAAATTATGGGGCTGGGCACAGTGGCTCACGCCTGTAATTCCAGCACTTTGTGAAGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACGCACCTGTAATCTCAGCTATTTGGGAGGCCAAGGCAGGAGAATCGCTTGAACC... | TAAGACGCTGCTGTGTTTATGTCAATGTAAATTATTGGGTAAATTTAAATGCTGTTTAAGAAGCTTCCTTTTGCTGAGGGAGATGAAAATATGACTTAACCTTAAAAAAATTATGGGGCTGGGCACAGTGGCTCACGCCTGTAATTCCAGCACTTTGTGAAGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACGCACCTGTAATCTCAGCTATTTGGGAGGCCAAGGCAGGAGAATCGCTTGAACC... |
Task1_train_4852 | Given a variant located on Chromosome 2 and affecting MTX2 (metaxin 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Mandibuloacral dysplasia progeroid syndrome | TAAGACGCTGCTGTGTTTATGTCAATGTAAATTATTGGGTAAATTTAAATGCTGTTTAAGAAGCTTCCTTTTGCTGAGGGAGATGAAAATATGACTTAACCTTAAAAAAATTATGGGGCTGGGCACAGTGGCTCACGCCTGTAATTCCAGCACTTTGTGAAGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACGCACCTGTAATCTCAGCTATTTGGGAGGCCAAGGCAGGAGAATCGCTTGAACC... | TAAGACGCTGCTGTGTTTATGTCAATGTAAATTATTGGGTAAATTTAAATGCTGTTTAAGAAGCTTCCTTTTGCTGAGGGAGATGAAAATATGACTTAACCTTAAAAAAATTATGGGGCTGGGCACAGTGGCTCACGCCTGTAATTCCAGCACTTTGTGAAGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACGCACCTGTAATCTCAGCTATTTGGGAGGCCAAGGCAGGAGAATCGCTTGAACC... |
Task1_train_4853 | This sequence change occurs on Chromosome 2, altering NFE2L2 (NFE2 like bZIP transcription factor 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Immunodeficiency, developmental delay, and hypohomocysteinemia | ATACTATATAAATCAAAGTTAATCCATGATAATACGTGATAAATTTAGATAAACTCCCTACCCACATTATCTTCAGGCTTATCTCTATAATTTATTATCTATAATTCAGAGATAATTCTCATTTCCAATACATATTTACGCCTAAGCGTTATGTATTATTTTCAGAGTTCCCAGATCAGACGTCAGGTTTATAACATTCTATCCTCAAGATGTCCAACCAATTTAACTAGCATGGGCAGTACTCATGACTAAGTTAATAGCACCCTCCAATCCTTCCTATAAATAGGTGGTATATAAATAATCAGAATGACTAAAGGCAC... | ATACTATATAAATCAAAGTTAATCCATGATAATACGTGATAAATTTAGATAAACTCCCTACCCACATTATCTTCAGGCTTATCTCTATAATTTATTATCTATAATTCAGAGATAATTCTCATTTCCAATACATATTTACGCCTAAGCGTTATGTATTATTTTCAGAGTTCCCAGATCAGACGTCAGGTTTATAACATTCTATCCTCAAGATGTCCAACCAATTTAACTAGCATGGGCAGTACTCATGACTAAGTTAATAGCACCCTCCAATCCTTCCTATAAATAGGTGGTATATAAATAATCAGAATGACTAAAGGCAC... |
Task1_train_4854 | Here is a variant affecting NFE2L2 (NFE2 like bZIP transcription factor 2) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | ACTATATAAATCAAAGTTAATCCATGATAATACGTGATAAATTTAGATAAACTCCCTACCCACATTATCTTCAGGCTTATCTCTATAATTTATTATCTATAATTCAGAGATAATTCTCATTTCCAATACATATTTACGCCTAAGCGTTATGTATTATTTTCAGAGTTCCCAGATCAGACGTCAGGTTTATAACATTCTATCCTCAAGATGTCCAACCAATTTAACTAGCATGGGCAGTACTCATGACTAAGTTAATAGCACCCTCCAATCCTTCCTATAAATAGGTGGTATATAAATAATCAGAATGACTAAAGGCACTG... | ACTATATAAATCAAAGTTAATCCATGATAATACGTGATAAATTTAGATAAACTCCCTACCCACATTATCTTCAGGCTTATCTCTATAATTTATTATCTATAATTCAGAGATAATTCTCATTTCCAATACATATTTACGCCTAAGCGTTATGTATTATTTTCAGAGTTCCCAGATCAGACGTCAGGTTTATAACATTCTATCCTCAAGATGTCCAACCAATTTAACTAGCATGGGCAGTACTCATGACTAAGTTAATAGCACCCTCCAATCCTTCCTATAAATAGGTGGTATATAAATAATCAGAATGACTAAAGGCACTG... |
Task1_train_4855 | The gene AGPS (alkylglycerone phosphate synthase), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Rhizomelic chondrodysplasia punctata type 3 | GACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGTGGGGACATGGATAAAGCTGGAAACCATCATTCTCAGCAAACTATCACAAGATCAGAAAACAAAACACCACATGTTCTCACTCATAAGTGGGAGTTGAACAATGAGTACACATGGATACAGGGAGAGGAACATCACACAGTGGGGCCTGGGGCGCGGTGGGAGGCTAGGGGAGGGATAACATTAGGAGAAATACCTCATGTAGATGA... | GACTTGGAACCAACCCAAATGTCCATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTCCTTTGTGGGGACATGGATAAAGCTGGAAACCATCATTCTCAGCAAACTATCACAAGATCAGAAAACAAAACACCACATGTTCTCACTCATAAGTGGGAGTTGAACAATGAGTACACATGGATACAGGGAGAGGAACATCACACAGTGGGGCCTGGGGCGCGGTGGGAGGCTAGGGGAGGGATAACATTAGGAGAAATACCTCATGTAGATGA... |
Task1_train_4856 | Located on Chromosome 2, this mutation impacts AGPS (alkylglycerone phosphate synthase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Rhizomelic chondrodysplasia punctata type 3 | GAGATTATAGGTGTGAGCCGCCATACCCAGCCTAGGTTGCAGACTTTACAGCACTTAACCTAAATACATCAGCACCGTCTCCTAAAGACGGAATAGTGTTCTTCTTTATAACTACAATACCATTTTCATGTCTAAGAAAATCAGTAGGAATTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGCAGGCTGGAGTGCAGTGGTTCACTGCAACCTCTTCCTCCTGGGTTCAAGCAATTCCCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGTCTGACTAATTTCTTTTTTTTTTTT... | GAGATTATAGGTGTGAGCCGCCATACCCAGCCTAGGTTGCAGACTTTACAGCACTTAACCTAAATACATCAGCACCGTCTCCTAAAGACGGAATAGTGTTCTTCTTTATAACTACAATACCATTTTCATGTCTAAGAAAATCAGTAGGAATTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGCAGGCTGGAGTGCAGTGGTTCACTGCAACCTCTTCCTCCTGGGTTCAAGCAATTCCCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGTGCCACCATGTCTGACTAATTTCTTTTTTTTTTTT... |
Task1_train_4857 | The gene AGPS (alkylglycerone phosphate synthase) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Rhizomelic chondrodysplasia punctata type 3 | TCTAAGTTGGAGTAGCTTCTTGATCTTCTGAAAAACATAGACTAACCTATTAATATAAACTTTTTTCTCTTCTTAGGTCATGCTCTTAAACCTCAGGTTTCCTCTATTTTTACATCATTTTTGGACGGATTAAAAAAGTTTTATATTACAAAGGTAAGAATTTTTATAAAATGCTAAAATTGTAAATGCTTAAGATATCTGTTTTCTGCTTTCTTCCCACATGCACCTATTGTAAGGGTGTTTTTCCATGTTGCTATGTACATTTCAGAATTACAGTTTTTCATGTTGGAATAAATATTAAGTAAATCAGGCAGTCAATT... | TCTAAGTTGGAGTAGCTTCTTGATCTTCTGAAAAACATAGACTAACCTATTAATATAAACTTTTTTCTCTTCTTAGGTCATGCTCTTAAACCTCAGGTTTCCTCTATTTTTACATCATTTTTGGACGGATTAAAAAAGTTTTATATTACAAAGGTAAGAATTTTTATAAAATGCTAAAATTGTAAATGCTTAAGATATCTGTTTTCTGCTTTCTTCCCACATGCACCTATTGTAAGGGTGTTTTTCCATGTTGCTATGTACATTTCAGAATTACAGTTTTTCATGTTGGAATAAATATTAAGTAAATCAGGCAGTCAATT... |
Task1_train_4858 | This sequence variant lies in AGPS (alkylglycerone phosphate synthase) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Rhizomelic chondrodysplasia punctata type 3 | CTCCTTTGTTATCTCCTGGTTGATTTCTCCTATATCTTAGTAATATTGGCATTTGTTTTACCTAGAACAATATCTTATGTTTCTTTGTCAGTCTCCATTTAGGTATGCCTTTCCAGAACACTTTTCCCAATCCGACCTATCCCAATTTTCTTATTCTTTGTATAGACTGATTTTTAAGCTGCATAAGCTAATTGATGGTGTCTGTCTTTATGTTCTCTCAGCATTCTTCAATCTCGTTTGTCATTCTGTATCTTTAGACTATGTCATATTTTGGCTATATACAGCTTAGAAGAGTTTCTTCTAGTGCATTTAAATTATCT... | CTCCTTTGTTATCTCCTGGTTGATTTCTCCTATATCTTAGTAATATTGGCATTTGTTTTACCTAGAACAATATCTTATGTTTCTTTGTCAGTCTCCATTTAGGTATGCCTTTCCAGAACACTTTTCCCAATCCGACCTATCCCAATTTTCTTATTCTTTGTATAGACTGATTTTTAAGCTGCATAAGCTAATTGATGGTGTCTGTCTTTATGTTCTCTCAGCATTCTTCAATCTCGTTTGTCATTCTGTATCTTTAGACTATGTCATATTTTGGCTATATACAGCTTAGAAGAGTTTCTTCTAGTGCATTTAAATTATCT... |
Task1_train_4859 | Consider a variant on Chromosome 2 in gene CHROMR, PRKRA (cholesterol induced regulator of metabolism RNA| protein activator of interferon induced protein kinase EIF2AK2). Determine its clinical classification and disease relevance. | Pathogenic; Dystonia 16 | TTCTCCCACCTGAGCCTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCTTGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACGCCTGACCTCAGGTGATCTGCCCGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCAGCCTCTTTTCTTTTTTTTTTTTGAGACAAGTCTAACTCTGTCACCCAGGCTGGAGAGCAGCGGCATGATCATGGCTCACTGCTGCCTCAACCTCAGAGGCTCAAGTCATTGTCCCCACCTC... | TTCTCCCACCTGAGCCTCCCGAGTAGCTGGGATTACAGGTGCACGCCACCTTGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGTCAGGCTGGTCTCAAACGCCTGACCTCAGGTGATCTGCCCGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCTCCAGCCTCTTTTCTTTTTTTTTTTTGAGACAAGTCTAACTCTGTCACCCAGGCTGGAGAGCAGCGGCATGATCATGGCTCACTGCTGCCTCAACCTCAGAGGCTCAAGTCATTGTCCCCACCTC... |
Task1_train_4860 | A variant on Chromosome 2 in gene PJVK (pejvakin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 59 | ACGGATTGGGGGCTGGGTCACTTTAAGAAAAAGATTCTAAAATTACGAAGGCAGAATTCCAGGGAGTCTCCCGGGCCTGGTCCTGAAGCTTGAGACCCCGGATATATACGCTCCAGGGGGCTGCGGTGCGCTCTTCGGGTCCCCGAGCCCTGTGTTTAGGAACACGCGGGGACGTCCAAACACCCGCTCCTCTCCCGCCGGGCGGGCTCCTTTGTCTTCTGGGCTTTCGTCGCGAGATGGAACGCTGGGTCAGTGCATCCCAGCAAAACACGTTAGGAGTAAACGAAGGCCTTTCCGGGGACCTGGGTAGTCGGTTGTAA... | ACGGATTGGGGGCTGGGTCACTTTAAGAAAAAGATTCTAAAATTACGAAGGCAGAATTCCAGGGAGTCTCCCGGGCCTGGTCCTGAAGCTTGAGACCCCGGATATATACGCTCCAGGGGGCTGCGGTGCGCTCTTCGGGTCCCCGAGCCCTGTGTTTAGGAACACGCGGGGACGTCCAAACACCCGCTCCTCTCCCGCCGGGCGGGCTCCTTTGTCTTCTGGGCTTTCGTCGCGAGATGGAACGCTGGGTCAGTGCATCCCAGCAAAACACGTTAGGAGTAAACGAAGGCCTTTCCGGGGACCTGGGTAGTCGGTTGTAA... |
Task1_train_4861 | A variant has been detected on Chromosome 2 in PJVK (pejvakin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 59 | TAAGAAGTTCTGTTGGCTGAATAGAAAATTTGAGTTCCTTTTAAGAATTCTGGCTATGTGTTTCTTTTTGTTGTAAGATTAATTGAATTACTACTTTAAGTCTTGGTGAGTCATGTTGCCTTTCTCTAACATTTGGGTATTTGAGTCTTCAATTGTTAATTTAACATGTTACTATATATAATCTACATAAGATAAAGATGTTTAAAAAATACTGAGTTTCTTCTTATAAAGGTATTTCATCTTATCAATTACTGAATTATGAAGATGAATCAGATGTTTCACTCTATGGAAGGCGAGGTAACCATATTGTAAATGACGTT... | TAAGAAGTTCTGTTGGCTGAATAGAAAATTTGAGTTCCTTTTAAGAATTCTGGCTATGTGTTTCTTTTTGTTGTAAGATTAATTGAATTACTACTTTAAGTCTTGGTGAGTCATGTTGCCTTTCTCTAACATTTGGGTATTTGAGTCTTCAATTGTTAATTTAACATGTTACTATATATAATCTACATAAGATAAAGATGTTTAAAAAATACTGAGTTTCTTCTTATAAAGGTATTTCATCTTATCAATTACTGAATTATGAAGATGAATCAGATGTTTCACTCTATGGAAGGCGAGGTAACCATATTGTAAATGACGTT... |
Task1_train_4862 | Consider this mutation in PJVK (pejvakin) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Ear malformation | TAAGAAGTTCTGTTGGCTGAATAGAAAATTTGAGTTCCTTTTAAGAATTCTGGCTATGTGTTTCTTTTTGTTGTAAGATTAATTGAATTACTACTTTAAGTCTTGGTGAGTCATGTTGCCTTTCTCTAACATTTGGGTATTTGAGTCTTCAATTGTTAATTTAACATGTTACTATATATAATCTACATAAGATAAAGATGTTTAAAAAATACTGAGTTTCTTCTTATAAAGGTATTTCATCTTATCAATTACTGAATTATGAAGATGAATCAGATGTTTCACTCTATGGAAGGCGAGGTAACCATATTGTAAATGACGTT... | TAAGAAGTTCTGTTGGCTGAATAGAAAATTTGAGTTCCTTTTAAGAATTCTGGCTATGTGTTTCTTTTTGTTGTAAGATTAATTGAATTACTACTTTAAGTCTTGGTGAGTCATGTTGCCTTTCTCTAACATTTGGGTATTTGAGTCTTCAATTGTTAATTTAACATGTTACTATATATAATCTACATAAGATAAAGATGTTTAAAAAATACTGAGTTTCTTCTTATAAAGGTATTTCATCTTATCAATTACTGAATTATGAAGATGAATCAGATGTTTCACTCTATGGAAGGCGAGGTAACCATATTGTAAATGACGTT... |
Task1_train_4863 | This mutation occurs in PJVK (pejvakin) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 59 | AGAGGTATTTCCTAATATAGACCAGGAGTTTCTGTTGGACCAATTGGATCTCTGCTATAAAAAATGGTTTAATTCAAGCAGAATAATCCTTTACTTGGGAATTTTTTGTTTTGTTTTTGGTAGGATTATAGGAAATGTTTCATTTCTCCAAAAAGCTATCCTTACATGTTATGATCCTTAATTATGTTATTTATTTATTCAATATAGTTTCACTTTATGGATGAACAGAATCCCAAGGGAAGGGACAAAGCTATTGTTTTCCCAGCACATACAACCATAGCTTTCAGTGTTTTTGAACTCTTCATATACCTGGATGGTGC... | AGAGGTATTTCCTAATATAGACCAGGAGTTTCTGTTGGACCAATTGGATCTCTGCTATAAAAAATGGTTTAATTCAAGCAGAATAATCCTTTACTTGGGAATTTTTTGTTTTGTTTTTGGTAGGATTATAGGAAATGTTTCATTTCTCCAAAAAGCTATCCTTACATGTTATGATCCTTAATTATGTTATTTATTTATTCAATATAGTTTCACTTTATGGATGAACAGAATCCCAAGGGAAGGGACAAAGCTATTGTTTTCCCAGCACATACAACCATAGCTTTCAGTGTTTTTGAACTCTTCATATACCTGGATGGTGC... |
Task1_train_4864 | Assess the clinical impact of this variant on gene PJVK (pejvakin), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not specified | CTTACTTCAGTTTTACTTATCATAGACCCAGCTTCCCCTTGCACTCTTCCTAAAAAATAACTTTAAAAAGTGAAAATACTTCCTCCAAAATTGTCACCTTGTATAATACCTAAGTGCAGCTCACTTTAGGTCTCTACATTTCACAGGTCTTTAAGGTCTGTTGGCCAACTGGAACAAGTCCAGGTGTAGCCCAAGGGATCAGGAAAGGCAGCCCCTAGCCATGGTAATTTACAAATGTTTTTAGACCTGTTCTTGTTCATTTCTGCAATTTTGTAGGAGGAGGGAATAGGGAGTCCAGAAACAAAACAAAACTACATGTT... | CTTACTTCAGTTTTACTTATCATAGACCCAGCTTCCCCTTGCACTCTTCCTAAAAAATAACTTTAAAAAGTGAAAATACTTCCTCCAAAATTGTCACCTTGTATAATACCTAAGTGCAGCTCACTTTAGGTCTCTACATTTCACAGGTCTTTAAGGTCTGTTGGCCAACTGGAACAAGTCCAGGTGTAGCCCAAGGGATCAGGAAAGGCAGCCCCTAGCCATGGTAATTTACAAATGTTTTTAGACCTGTTCTTGTTCATTTCTGCAATTTTGTAGGAGGAGGGAATAGGGAGTCCAGAAACAAAACAAAACTACATGTT... |
Task1_train_4865 | This mutation is located in gene PJVK (pejvakin) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 59 | CTTACTTCAGTTTTACTTATCATAGACCCAGCTTCCCCTTGCACTCTTCCTAAAAAATAACTTTAAAAAGTGAAAATACTTCCTCCAAAATTGTCACCTTGTATAATACCTAAGTGCAGCTCACTTTAGGTCTCTACATTTCACAGGTCTTTAAGGTCTGTTGGCCAACTGGAACAAGTCCAGGTGTAGCCCAAGGGATCAGGAAAGGCAGCCCCTAGCCATGGTAATTTACAAATGTTTTTAGACCTGTTCTTGTTCATTTCTGCAATTTTGTAGGAGGAGGGAATAGGGAGTCCAGAAACAAAACAAAACTACATGTT... | CTTACTTCAGTTTTACTTATCATAGACCCAGCTTCCCCTTGCACTCTTCCTAAAAAATAACTTTAAAAAGTGAAAATACTTCCTCCAAAATTGTCACCTTGTATAATACCTAAGTGCAGCTCACTTTAGGTCTCTACATTTCACAGGTCTTTAAGGTCTGTTGGCCAACTGGAACAAGTCCAGGTGTAGCCCAAGGGATCAGGAAAGGCAGCCCCTAGCCATGGTAATTTACAAATGTTTTTAGACCTGTTCTTGTTCATTTCTGCAATTTTGTAGGAGGAGGGAATAGGGAGTCCAGAAACAAAACAAAACTACATGTT... |
Task1_train_4866 | A mutation on Chromosome 2 affecting TTN, TTN-AS1 (titin| TTN antisense RNA 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Myopathy, myofibrillar, 9, with early respiratory failure | TTACCATAGACTTTAACAAGGACTGTTGCTGATTTCTTGCCAGATTGGTTTTCAGCTTCAATTGTGTATTTTCCAGCATCGTACCGATTAACTTTGTCCACTATTAGCAATGAGTAGCTCTCAGTGGTGTCAATAATTGCCCGGCTTGCAAGGTCAATGCCCTGCTTGCTCCACGTTATGACAGGAGGTGGTCTTCCAGATACAGACACCATCAAGCGCAAGGAGGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCAT... | TTACCATAGACTTTAACAAGGACTGTTGCTGATTTCTTGCCAGATTGGTTTTCAGCTTCAATTGTGTATTTTCCAGCATCGTACCGATTAACTTTGTCCACTATTAGCAATGAGTAGCTCTCAGTGGTGTCAATAATTGCCCGGCTTGCAAGGTCAATGCCCTGCTTGCTCCACGTTATGACAGGAGGTGGTCTTCCAGATACAGACACCATCAAGCGCAAGGAGGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCAT... |
Task1_train_4867 | The following genetic variant occurs in TTN, TTN-AS1 (titin| TTN antisense RNA 1) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Myopathy, myofibrillar, 9, with early respiratory failure | ACGTTATGACAGGAGGTGGTCTTCCAGATACAGACACCATCAAGCGCAAGGAGGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAA... | ACGTTATGACAGGAGGTGGTCTTCCAGATACAGACACCATCAAGCGCAAGGAGGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAA... |
Task1_train_4868 | With a mutation on Chromosome 2 in gene TTN, TTN-AS1 (titin| TTN antisense RNA 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Dilated cardiomyopathy 1G | CGTTATGACAGGAGGTGGTCTTCCAGATACAGACACCATCAAGCGCAAGGAGGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAAT... | CGTTATGACAGGAGGTGGTCTTCCAGATACAGACACCATCAAGCGCAAGGAGGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAAT... |
Task1_train_4869 | Here is a mutation in TTN, TTN-AS1 (titin| TTN antisense RNA 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cardiomyopathy | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4870 | This gene mutation involves TTN, TTN-AS1 (titin| TTN antisense RNA 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2J | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4871 | Here is a genetic alteration in TTN, TTN-AS1 (titin| TTN antisense RNA 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Tibial muscular dystrophy | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4872 | An alteration has been detected in TTN, TTN-AS1 (titin| TTN antisense RNA 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Myopathy, myofibrillar, 9, with early respiratory failure | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4873 | Located on Chromosome 2, this mutation impacts TTN, TTN-AS1 (titin| TTN antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Early-onset myopathy with fatal cardiomyopathy | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4874 | Chromosome 2 houses a mutation in gene TTN, TTN-AS1 (titin| TTN antisense RNA 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hypertrophic cardiomyopathy 9 | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4875 | Here’s a variant in TTN, TTN-AS1 (titin| TTN antisense RNA 1) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Dilated cardiomyopathy 1G | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4876 | This sequence change occurs on Chromosome 2, altering TTN, TTN-AS1 (titin| TTN antisense RNA 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hypertrophic cardiomyopathy 9 | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4877 | Consider a variant on Chromosome 2 in gene TTN, TTN-AS1 (titin| TTN antisense RNA 1). Determine its clinical classification and disease relevance. | Pathogenic; Dilated cardiomyopathy 1G | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4878 | A variant was discovered on Chromosome 2, affecting TTN, TTN-AS1 (titin| TTN antisense RNA 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2J | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4879 | Given this context: Chromosome 2, gene TTN, TTN-AS1 (titin| TTN antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Dilated cardiomyopathy 1G | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4880 | This alteration occurs within gene TTN, TTN-AS1 (titin| TTN antisense RNA 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Myopathy, myofibrillar, 9, with early respiratory failure | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... | GGCCCCAGCCCTGATGGTCACAGTCTTCTTTAGATCATCTGCAAGCTCAAGATCTGGTATTTCTGGAAAGTTAATGACAAAATTTAATTAATTCATGGACAGGTGTGAGAAGAAAATAATTCACCTAAAAGCTTCTGTGATAAATACCTATTCTTTCCACGGGCTCAATTTCAGCAATTGATTCGCTGTATTCGCTCATACCCTTCACGTTCACGGCAGCAACTCTGAAGGAATATTTCTGGCCCATTTTAAGGTCTGGCACAGTGAATTCAGTATTTCTTATTGTGGCATTGGTATGCACTCGGTACCACTGATCAGTG... |
Task1_train_4881 | The variant affects gene TTN, TTN-AS1 (titin| TTN antisense RNA 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | AATCAGCATTTTAATAATGCACTTGTCTCTAAGTGGGGCTATCTGTATTTTGGGTAGGATAATCTTTGATGTGCTGGAGTGTCATTCACACTGCAGAGCATTTAGCATCCTTGGCTCCCAACTACTAAATGTCAGTGGTATCTACCTCAAGTCTGTGTGCCAAGCAAAAATGGCCCCACAAATTTCCAGACATTATTTGCAGGGCTGGGGGGAATGCAGAAAATGTTACTATCCCTGGTTAAGAACACTATGGGAAAATGTGAAGCTGTGCAATTAAAAAATTGTGGTCATTTCAATGCTCTTTGGGTATGCTAATATCT... | AATCAGCATTTTAATAATGCACTTGTCTCTAAGTGGGGCTATCTGTATTTTGGGTAGGATAATCTTTGATGTGCTGGAGTGTCATTCACACTGCAGAGCATTTAGCATCCTTGGCTCCCAACTACTAAATGTCAGTGGTATCTACCTCAAGTCTGTGTGCCAAGCAAAAATGGCCCCACAAATTTCCAGACATTATTTGCAGGGCTGGGGGGAATGCAGAAAATGTTACTATCCCTGGTTAAGAACACTATGGGAAAATGTGAAGCTGTGCAATTAAAAAATTGTGGTCATTTCAATGCTCTTTGGGTATGCTAATATCT... |
Task1_train_4882 | This sequence change occurs on Chromosome 2, altering TTN (titin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hypertrophic cardiomyopathy 9 | TTAGTATGGCAAAGGAGAAAGGCAAGACTCCACTGGCTACTTTTCAGTACAAACTAGCCAACCACCTGGCCCTGCTCAATGGGAGTGGACCATGTAACAGCGGGTAACCAGTGACCAACCTTGGCTTCGCGTCCGTGCAGTACTTCAAAGCGCTCTTCACGGACGGTGGTGCCAGTGATGCTCACCCCTACTTCCTTTTTCACCTCAACGCCAGCTTCACTCTTGTAAGTATCTGGTGTGTCAGCGAAGGGGAACTGTGGCAAGGGTGTGGGCTCTGCCCTTACTCTAGTCTCACTGGGCTTCACAGTAGGAGCCTTCAC... | TTAGTATGGCAAAGGAGAAAGGCAAGACTCCACTGGCTACTTTTCAGTACAAACTAGCCAACCACCTGGCCCTGCTCAATGGGAGTGGACCATGTAACAGCGGGTAACCAGTGACCAACCTTGGCTTCGCGTCCGTGCAGTACTTCAAAGCGCTCTTCACGGACGGTGGTGCCAGTGATGCTCACCCCTACTTCCTTTTTCACCTCAACGCCAGCTTCACTCTTGTAAGTATCTGGTGTGTCAGCGAAGGGGAACTGTGGCAAGGGTGTGGGCTCTGCCCTTACTCTAGTCTCACTGGGCTTCACAGTAGGAGCCTTCAC... |
Task1_train_4883 | This sequence change occurs on Chromosome 2, altering CERKL (CERK like autophagy regulator). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinitis pigmentosa 26 | TGGTGTATATATGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAGTAGTGCCACAATAAACATATGTGTGTATGTGCCTTTATAGCAGTATGATTTATATTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAATAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA... | TGGTGTATATATGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAGTAGTGCCACAATAAACATATGTGTGTATGTGCCTTTATAGCAGTATGATTTATATTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGTCTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAATAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA... |
Task1_train_4884 | Consider this mutation in CERKL, LOC129935214 (CERK like autophagy regulator| ATAC-STARR-seq lymphoblastoid silent region 12157) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Retinitis pigmentosa 26 | TTTTTGTTTGTTTGTTGTGCTTTTTGAGATGGAGATTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCCGCTCACAGCAACCTCCAACTCCCAGGTTCAAGCAATTCACCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGACACACCACGCCTGGCTATATTTTACCTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAA... | TTTTTGTTTGTTTGTTGTGCTTTTTGAGATGGAGATTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCCGCTCACAGCAACCTCCAACTCCCAGGTTCAAGCAATTCACCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGGACACACCACGCCTGGCTATATTTTACCTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAA... |
Task1_train_4885 | A mutation in LOC129935215, CERKL (ATAC-STARR-seq lymphoblastoid silent region 12158| CERK like autophagy regulator), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | CTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAGGGCATAATTAAACAAAGAATCAGTACTTGCAACCTTTAAAGTTACAAATCTGTCAAGATGTATTTTAAACTCTACTGCCAGGGGTGCACTAATTAAACCTATTTTACCTTAATCACCACTCAATATAAAACAGCATTTCTTTTCTCATGTCATT... | CTAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAGGGCATAATTAAACAAAGAATCAGTACTTGCAACCTTTAAAGTTACAAATCTGTCAAGATGTATTTTAAACTCTACTGCCAGGGGTGCACTAATTAAACCTATTTTACCTTAATCACCACTCAATATAAAACAGCATTTCTTTTCTCATGTCATT... |
Task1_train_4886 | A variant has been detected on Chromosome 2 in CERKL, LOC129935215 (CERK like autophagy regulator| ATAC-STARR-seq lymphoblastoid silent region 12158). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAGGGCATAATTAAACAAAGAATCAGTACTTGCAACCTTTAAAGTTACAAATCTGTCAAGATGTATTTTAAACTCTACTGCCAGGGGTGCACTAATTAAACCTATTTTACCTTAATCACCACTCAATATAAAACAGCATTTCTTTTCTCATGTCATTG... | TAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAGGGCATAATTAAACAAAGAATCAGTACTTGCAACCTTTAAAGTTACAAATCTGTCAAGATGTATTTTAAACTCTACTGCCAGGGGTGCACTAATTAAACCTATTTTACCTTAATCACCACTCAATATAAAACAGCATTTCTTTTCTCATGTCATTG... |
Task1_train_4887 | The gene CERKL, LOC129935215 (CERK like autophagy regulator| ATAC-STARR-seq lymphoblastoid silent region 12158) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinitis pigmentosa 26 | TAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAGGGCATAATTAAACAAAGAATCAGTACTTGCAACCTTTAAAGTTACAAATCTGTCAAGATGTATTTTAAACTCTACTGCCAGGGGTGCACTAATTAAACCTATTTTACCTTAATCACCACTCAATATAAAACAGCATTTCTTTTCTCATGTCATTG... | TAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAGGGCATAATTAAACAAAGAATCAGTACTTGCAACCTTTAAAGTTACAAATCTGTCAAGATGTATTTTAAACTCTACTGCCAGGGGTGCACTAATTAAACCTATTTTACCTTAATCACCACTCAATATAAAACAGCATTTCTTTTCTCATGTCATTG... |
Task1_train_4888 | This is a variant in CERKL, LOC129935215 (CERK like autophagy regulator| ATAC-STARR-seq lymphoblastoid silent region 12158), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAGGGCATAATTAAACAAAGAATCAGTACTTGCAACCTTTAAAGTTACAAATCTGTCAAGATGTATTTTAAACTCTACTGCCAGGGGTGCACTAATTAAACCTATTTTACCTTAATCACCACTCAATATAAAACAGCATTTCTTTTCTCATGTCATTG... | TAAATAAAACATCTCTTGGTTTCTTCCATAAACAGAAGTACTTACTAAGGCTCTAGGCTTCTGTGCCCCCAATTTTAGAGGCCCAAAGTGGTTTGAATACCAGGTATTAATTACAAAGAAAAAGGGTACACCTGTATGAAGGAAAAGACCACCAAATGGTTTTAGGGCATAATTAAACAAAGAATCAGTACTTGCAACCTTTAAAGTTACAAATCTGTCAAGATGTATTTTAAACTCTACTGCCAGGGGTGCACTAATTAAACCTATTTTACCTTAATCACCACTCAATATAAAACAGCATTTCTTTTCTCATGTCATTG... |
Task1_train_4889 | This gene mutation involves NEUROD1 (neuronal differentiation 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Type 2 diabetes mellitus | ATTTTATTGCAACTGGATGAATGTTTTCTAAATTGTGCATTACACCATAATATACAGGATTACAAACAAAATTACAGTACAGATCGATTCCAGTGGTACCAGCATCACATCTCAAACAGCACTTATTCTGGACTGCATTTTACATGCAATAGCTATTGTTCTAATTATGAATTAAATGGTTTGAATTTATTTAAGCTACTGTACTAATTGACTACTATAGATATAAATCCCAACATTAACAACCTGATTAGATTTAGGCTCAGATTTATTACATGAATATATGACAAACCACCATTTTTGTGACTATGTATAAAATCATG... | ATTTTATTGCAACTGGATGAATGTTTTCTAAATTGTGCATTACACCATAATATACAGGATTACAAACAAAATTACAGTACAGATCGATTCCAGTGGTACCAGCATCACATCTCAAACAGCACTTATTCTGGACTGCATTTTACATGCAATAGCTATTGTTCTAATTATGAATTAAATGGTTTGAATTTATTTAAGCTACTGTACTAATTGACTACTATAGATATAAATCCCAACATTAACAACCTGATTAGATTTAGGCTCAGATTTATTACATGAATATATGACAAACCACCATTTTTGTGACTATGTATAAAATCATG... |
Task1_train_4890 | Gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Ehlers-Danlos syndrome, type 4 | ATCTTGGCTTTGAGAAAATAAAAATTTCACCATCTCACAAAAATATAAATTACTGAACAGTACATCATTTGTTGTTTGCAAAAATTTTTGCAGATGCTTAGAAACTTATTATTTATTTACTCAATTACTGGCAAACTATCATACTAATTGTCAAGAACTAAAGTTGTATTTAACCACAATACACAGCTAATGCCTTAAGAATTGAGACCAGGTTTTGTTTTGGCAATTCCTAAGCTGATTCATAGTTAATAGCTGCTGAAATTTCAGTACCTTGTATATAATTATGAAGCAAGTCTAAAATTTTGGTTGAAGCAATTTTT... | ATCTTGGCTTTGAGAAAATAAAAATTTCACCATCTCACAAAAATATAAATTACTGAACAGTACATCATTTGTTGTTTGCAAAAATTTTTGCAGATGCTTAGAAACTTATTATTTATTTACTCAATTACTGGCAAACTATCATACTAATTGTCAAGAACTAAAGTTGTATTTAACCACAATACACAGCTAATGCCTTAAGAATTGAGACCAGGTTTTGTTTTGGCAATTCCTAAGCTGATTCATAGTTAATAGCTGCTGAAATTTCAGTACCTTGTATATAATTATGAAGCAAGTCTAAAATTTTGGTTGAAGCAATTTTT... |
Task1_train_4891 | With a mutation on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | CACATTATGTTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAA... | CACATTATGTTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAA... |
Task1_train_4892 | With a mutation on Chromosome 2 in gene COL3A1 (collagen type III alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GTTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTAC... | GTTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTAC... |
Task1_train_4893 | Here is a genetic alteration in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GTTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTAC... | GTTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTAC... |
Task1_train_4894 | This variant impacts the gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is the change likely to result in a pathogenic outcome? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACA... | TTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACA... |
Task1_train_4895 | This mutation is located in gene COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACA... | TTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACA... |
Task1_train_4896 | Located on Chromosome 2, this mutation impacts COL3A1 (collagen type III alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Ehlers-Danlos syndrome, type 4 | TTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACA... | TTTAAGAAGTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACA... |
Task1_train_4897 | The gene COL3A1 (collagen type III alpha 1 chain), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ehlers-Danlos syndrome, type 4 | GTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACACAAATTTT... | GTGAACTATGAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACACAAATTTT... |
Task1_train_4898 | Mutation context: Chromosome 2, Gene COL3A1 (collagen type III alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, type 4 | GAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACACAAATTTTTGTGAGGTT... | GAACTTAACAAAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACACAAATTTTTGTGAGGTT... |
Task1_train_4899 | This mutation occurs in COL3A1 (collagen type III alpha 1 chain) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Ehlers-Danlos syndrome, type 4 | AAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACACAAATTTTTGTGAGGTTAAAAAGTGCA... | AAAAAAATTAACCTAAATAATTTAGTTAGTACTGTATCCATACTTTATTCTCCTACTAATACCAATGTCAAAGCCTCTAAAAGTTTAGACAAAAAGAAGTTGAAGAACTGTTAGTATTCCTATTGAACAGGATTATTTCTGCCTATGAAACTGCTCTTGCTAATACTTCAGAGCACACCTTGCTTCTCCTGAAGCATGGCAGCCAAATAAATCTGCAGGTAAAACAACCAAACAAATAAATATGACAAAATTTCTGTTGCATGGAATTAGGTGAAACGAGAAAATATATTACACAAATTTTTGTGAGGTTAAAAAGTGCA... |
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