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_10200 | This is a variant in ITPR3 (inositol 1,4,5-trisphosphate receptor type 3), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Charcot-Marie-Tooth disease, demyelinating, type 1J | TCCCTGGAGGAGCCTTGGGAAACTGTCTGGAGCCCAGGCAGCCCTCAGGGTTCCAGTGGCAGCCCCAGTGAGAGTGGCCGGCCCAGCCCCTCAAGGTGCCATCCCTATCTCAACCCCATCCTGCAGCTCTTTGACCTCATCTACCGCGAGGAGACGCTGTTCAACGTCATCAAGAGTGTGACCCGCAATGGCCGCTCCATCCTGCTGACAGCCCTGCTGGCCCTCATCCTGGTCTACCTCTTCTCCATCGTCGGCTTCCTCTTCCTCAAGGATGACTTCATTCTCGAGGTCGACCGGCTGCCCAACAACCACTCCACAGG... | TCCCTGGAGGAGCCTTGGGAAACTGTCTGGAGCCCAGGCAGCCCTCAGGGTTCCAGTGGCAGCCCCAGTGAGAGTGGCCGGCCCAGCCCCTCAAGGTGCCATCCCTATCTCAACCCCATCCTGCAGCTCTTTGACCTCATCTACCGCGAGGAGACGCTGTTCAACGTCATCAAGAGTGTGACCCGCAATGGCCGCTCCATCCTGCTGACAGCCCTGCTGGCCCTCATCCTGGTCTACCTCTTCTCCATCGTCGGCTTCCTCTTCCTCAAGGATGACTTCATTCTCGAGGTCGACCGGCTGCCCAACAACCACTCCACAGG... |
Task1_train_10201 | This mutation occurs in UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mitochondrial complex III deficiency nuclear type 7 | GTTCACGGGTTTGTAGAATTGGGACTAGATAAGATTCTTGCCTTAAAGATCTTTACACTTTGGGCCAGTGAAGACCACCATGAATAATGTGAGGGCCCTGGGTATCGTATAACCTGGGCCAGACACTCCCCAGGCTGCCAGCCAATCAGCAGTACAGTCACAATGATGCCACTGGGCGTGCTCCTGCTCCTTTAGGTGGGCTGGCTTGGCTCTGTTTCGGGCTAAGCTGAAAAAAAAAAAACCCATGTTCCTTCTGTAACAAGTCTTGGCCAAGTTTCACAAGTCATTTCTTCAGACTGTGTGTATATGCATCTCATTAT... | GTTCACGGGTTTGTAGAATTGGGACTAGATAAGATTCTTGCCTTAAAGATCTTTACACTTTGGGCCAGTGAAGACCACCATGAATAATGTGAGGGCCCTGGGTATCGTATAACCTGGGCCAGACACTCCCCAGGCTGCCAGCCAATCAGCAGTACAGTCACAATGATGCCACTGGGCGTGCTCCTGCTCCTTTAGGTGGGCTGGCTTGGCTCTGTTTCGGGCTAAGCTGAAAAAAAAAAAACCCATGTTCCTTCTGTAACAAGTCTTGGCCAAGTTTCACAAGTCATTTCTTCAGACTGTGTGTATATGCATCTCATTAT... |
Task1_train_10202 | A mutation on Chromosome 6 affecting LEMD2, LOC129996186 (LEM domain nuclear envelope protein 2| ATAC-STARR-seq lymphoblastoid silent region 17057) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cataract 46 juvenile-onset | CAACCACTCTGAACCTCTGTCTCCTCGTCTGTAAAACGGGATCAAATGGGCCTTCCCTGCTTAACTCAGGGAGTTAGGCCCAAACAAAACAAAATATAGGAGTTTTGTAAACAATGATATGTTAAACAGAGATTAACACCGTAATGGGAGGGGAAGTCCAGGTAAATACCAGCATACATTCTAGCGCTGTTGTCTTAAAGCATCTCAGCAGTGAGTACCAGTGTGATACTGTTTGACATCACCAGTGTAGTTATAGTACCATGACACTCCCAGGTCTCCTTAATTTCTCTAGCAGGTCGACAAACTATTCACATAGTTGA... | CAACCACTCTGAACCTCTGTCTCCTCGTCTGTAAAACGGGATCAAATGGGCCTTCCCTGCTTAACTCAGGGAGTTAGGCCCAAACAAAACAAAATATAGGAGTTTTGTAAACAATGATATGTTAAACAGAGATTAACACCGTAATGGGAGGGGAAGTCCAGGTAAATACCAGCATACATTCTAGCGCTGTTGTCTTAAAGCATCTCAGCAGTGAGTACCAGTGTGATACTGTTTGACATCACCAGTGTAGTTATAGTACCATGACACTCCCAGGTCTCCTTAATTTCTCTAGCAGGTCGACAAACTATTCACATAGTTGA... |
Task1_train_10203 | Gene RPS10, RPS10-NUDT3 (ribosomal protein S10| RPS10-NUDT3 readthrough), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Diamond-Blackfan anemia 9 | TGTCTCCTTTTTTTTTTTTTGACACAGTGTCTTGCTTTGTTGTTCAGGCTGAGTGCCATGGCCACAATCACAGCTCAATGCAGCCTGGAGTTCCTGGGCTTAACCACAGGTGTGCACCACCATGCCTGGCTAATTTATTTTTTTGTAGACGGAGTCTCACTATACTGCCTTAGCTGGTCTCAAACTCCTGGACTCAAGTAGTCTTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGAATGAGTCACTGCACTCAGGCAGAATGAACTCCTTTTAGAGCAGAAATAAATTAATCATGTAATGAGTGGCAAAAACAAA... | TGTCTCCTTTTTTTTTTTTTGACACAGTGTCTTGCTTTGTTGTTCAGGCTGAGTGCCATGGCCACAATCACAGCTCAATGCAGCCTGGAGTTCCTGGGCTTAACCACAGGTGTGCACCACCATGCCTGGCTAATTTATTTTTTTGTAGACGGAGTCTCACTATACTGCCTTAGCTGGTCTCAAACTCCTGGACTCAAGTAGTCTTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGAATGAGTCACTGCACTCAGGCAGAATGAACTCCTTTTAGAGCAGAAATAAATTAATCATGTAATGAGTGGCAAAAACAAA... |
Task1_train_10204 | The variant affects gene RPS10, RPS10-NUDT3 (ribosomal protein S10| RPS10-NUDT3 readthrough), which is on Chromosome 6. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Diamond-Blackfan anemia | TCTCCTTTTTTTTTTTTTGACACAGTGTCTTGCTTTGTTGTTCAGGCTGAGTGCCATGGCCACAATCACAGCTCAATGCAGCCTGGAGTTCCTGGGCTTAACCACAGGTGTGCACCACCATGCCTGGCTAATTTATTTTTTTGTAGACGGAGTCTCACTATACTGCCTTAGCTGGTCTCAAACTCCTGGACTCAAGTAGTCTTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGAATGAGTCACTGCACTCAGGCAGAATGAACTCCTTTTAGAGCAGAAATAAATTAATCATGTAATGAGTGGCAAAAACAAATG... | TCTCCTTTTTTTTTTTTTGACACAGTGTCTTGCTTTGTTGTTCAGGCTGAGTGCCATGGCCACAATCACAGCTCAATGCAGCCTGGAGTTCCTGGGCTTAACCACAGGTGTGCACCACCATGCCTGGCTAATTTATTTTTTTGTAGACGGAGTCTCACTATACTGCCTTAGCTGGTCTCAAACTCCTGGACTCAAGTAGTCTTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGAATGAGTCACTGCACTCAGGCAGAATGAACTCCTTTTAGAGCAGAAATAAATTAATCATGTAATGAGTGGCAAAAACAAATG... |
Task1_train_10205 | A sequence alteration has been identified in SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; Abnormality of the dentition | AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAG... | AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAG... |
Task1_train_10206 | A mutation found in SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Short stature | AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAG... | AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAG... |
Task1_train_10207 | A variant was discovered on Chromosome 6, affecting SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Abnormal facial shape | AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAG... | AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAG... |
Task1_train_10208 | Given this context: Chromosome 6, gene SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Abnormality of the skeletal system | AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAG... | AATTTTTGTATTTTTAGTAGAGATGGGGTTTCATCAAGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGCATCATCTATGTCCTTTCCTAACCATCCTCTTTTTTGCTAGATGGTGAGTGGCCTCTTCCTTCAAGTATAGCTGTGTGTGTAGCACCTATTGTTAGAGCTAGGGCCAGGAGACAGAGGGCTAAACACTGGGGATTAGGGCCTGAAGGGCTGCACTTATTAGGCTTCAGGTAGCTGGTGCCAACCTCTGCCAG... |
Task1_train_10209 | A variant was discovered in gene SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Abnormality of the dentition | GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCA... | GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCA... |
Task1_train_10210 | With a mutation on Chromosome 6 in gene SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Short stature | GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCA... | GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCA... |
Task1_train_10211 | Mutation context: Chromosome 6, Gene SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Abnormal facial shape | GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCA... | GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCA... |
Task1_train_10212 | This variant affects gene SCUBE3 (signal peptide, CUB domain and EGF like domain containing 3) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Abnormality of the skeletal system | GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCA... | GGAGGGGAGGAAGGACAGGGCTGTGGCCTGTCCACAGAAATGGTCCCTGCTCCACAAGGAGGTGAGGCTCAGCTGCCTTTCCCCACCCTGCCCCTCCAACCTCAGCACCATGGCCATAGCTCTGCCTGCACCCAGAGCCACTTCCCAGGTTCCTACATTCCCTGGCTGCTCATTGCAACCAGCTGCAACCCCCAGTTACCTATCCGACCAATGTGACCAATCTCCATCCTTACCTTCATCACTGTTCCTCTTTCTCTGGCTTCTTTCCTGGTGTCCTCTGTCTTCATACCCAGTTTACACAGGTGAGGGAAAGGGAGGCA... |
Task1_train_10213 | The following genetic variant occurs in DEF6 (DEF6 guanine nucleotide exchange factor) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Immunodeficiency 87 and autoimmunity | GGTGGAGGAGGGGGCTTTTGTTAAAGAGCACTTTGATGAGCTGTGCTGGACGCTGACGGCCAAGAAGAACTATCGGGCAGATAGCAACGGGAACAGTATGCTCTCCAATCAGGATGCCTTCCGCCTCTGGTGCCTCTTCAACTTCCTGTCTGAGGACAAGTACCCTCTGATCATGGTTCCTGATGAGGTGAGGGTGATGGCAGCCCCAGGGACTGAATCACTTGGGACCAGACCTAAGCAAAACCATGAATGAGACCAAACCACCTTTGGTGCCTTCCCATATCCCCTTTCTTTCTTTACCATCTTCCCATGCTGGTATC... | GGTGGAGGAGGGGGCTTTTGTTAAAGAGCACTTTGATGAGCTGTGCTGGACGCTGACGGCCAAGAAGAACTATCGGGCAGATAGCAACGGGAACAGTATGCTCTCCAATCAGGATGCCTTCCGCCTCTGGTGCCTCTTCAACTTCCTGTCTGAGGACAAGTACCCTCTGATCATGGTTCCTGATGAGGTGAGGGTGATGGCAGCCCCAGGGACTGAATCACTTGGGACCAGACCTAAGCAAAACCATGAATGAGACCAAACCACCTTTGGTGCCTTCCCATATCCCCTTTCTTTCTTTACCATCTTCCCATGCTGGTATC... |
Task1_train_10214 | A variant found in Chromosome 6 affects TULP1 (TUB like protein 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Leber congenital amaurosis | CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTT... | CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTT... |
Task1_train_10215 | This variant lies on Chromosome 6 and affects the gene TULP1 (TUB like protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Retinal dystrophy | CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTT... | CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTT... |
Task1_train_10216 | The gene TULP1 (TUB like protein 1) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinitis pigmentosa 14 | CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTT... | CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTT... |
Task1_train_10217 | The gene TULP1 (TUB like protein 1), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Leber congenital amaurosis 15 | CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTT... | CTCGGAGCCCTAGCGCGGTCCCGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTT... |
Task1_train_10218 | Consider a variant on Chromosome 6 in gene TULP1 (TUB like protein 1). Determine its clinical classification and disease relevance. | Pathogenic; Retinitis pigmentosa 14 | CGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCT... | CGGGGAGAGGGGAGGTTAAAACAACAATGACTACTGCTCCCGGACAGGAAGTGACTGGGGCGCGGGGAGGAGGGGGGCACAGCGGCGCAGGCGAGCTCCGAGACCAGATGTGCGGCTCCAACTCCAGATGTTCTTCATCTCCGTCCTACCCGCCGTCCGGGCTCCTCCTGCCTCGGCCTGTGCCAGGCTGGGGAGAGGACGGAGGTCACCGAGAGGCAGTGAGAGGTCAGCCCCGACACAGGAGCAGTTTTCCGCGGGAGCTTTGCTGGAGGGACCCTGCCAGCCTCCACTGAATCCTTTCCCCCACGCTGACGGGCTCT... |
Task1_train_10219 | Assess the clinical impact of this variant on gene TULP1 (TUB like protein 1), found on Chromosome 6. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Retinitis pigmentosa | TGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTT... | TGGGCACAGTGGCTCAGGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTT... |
Task1_train_10220 | A variant was discovered in gene TULP1 (TUB like protein 1), Chromosome 6. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAA... | GCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAA... |
Task1_train_10221 | A genetic alteration is present in TULP1 (TUB like protein 1) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Retinal dystrophy | AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATC... | AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATC... |
Task1_train_10222 | Gene TULP1 (TUB like protein 1), found on Chromosome 6, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinitis pigmentosa 14 | AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATC... | AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATC... |
Task1_train_10223 | Given this variant in gene TULP1 (TUB like protein 1) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Leber congenital amaurosis 15 | AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATC... | AGGCAGGTGGGTCACTTGAGGTCAGGAGTTCAAGACCAACCTGGCCATCATGGCAAAACCGCGTCTCTACTGAAAATACAAAAATTAGCTGAGCATGGTGGTATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATC... |
Task1_train_10224 | Here is a mutation in TULP1 (TUB like protein 1) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Leber congenital amaurosis | AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCC... | AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCC... |
Task1_train_10225 | Here is a mutation in TULP1 (TUB like protein 1) on Chromosome 6. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinitis pigmentosa 14 | AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCC... | AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCC... |
Task1_train_10226 | A mutation in TULP1 (TUB like protein 1), located on Chromosome 6, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinitis pigmentosa 14 | AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCC... | AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCC... |
Task1_train_10227 | Given this context: Chromosome 6, gene TULP1 (TUB like protein 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Leber congenital amaurosis 15 | AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCC... | AGGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCC... |
Task1_train_10228 | The gene TULP1 (TUB like protein 1), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Retinal dystrophy | GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCA... | GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCA... |
Task1_train_10229 | Given this context: Chromosome 6, gene TULP1 (TUB like protein 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Brachydactyly | GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCA... | GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCA... |
Task1_train_10230 | A mutation on Chromosome 6 affecting TULP1 (TUB like protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Syndactyly | GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCA... | GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCA... |
Task1_train_10231 | A genomic change on Chromosome 6 affects TULP1 (TUB like protein 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Polydactyly, postaxial, type A1 | GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCA... | GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCA... |
Task1_train_10232 | Given a variant located on Chromosome 6 and affecting TULP1 (TUB like protein 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Retinal degeneration | GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCA... | GGCAGGAGAATCTCTTGAACCTGGGAAGTAGAGGTTGCAGTGAGTTGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCA... |
Task1_train_10233 | The gene TULP1 (TUB like protein 1) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCT... | TGCGATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCT... |
Task1_train_10234 | The gene TULP1 (TUB like protein 1) is located on Chromosome 6, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | ATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATT... | ATCAGGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATT... |
Task1_train_10235 | This mutation occurs in TULP1 (TUB like protein 1) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinal dystrophy | GGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGG... | GGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGG... |
Task1_train_10236 | Given this variant in gene TULP1 (TUB like protein 1) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Retinitis pigmentosa 14 | GGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGG... | GGCCATTGCACTCCAGCCTGGGTTACAGAGCGAGACTCCGTCTCAAAACAAAAACAAAAACAAAAACAAGTCATGTCACTCCTTTGCTCAAAACCCTGCTGTAGCTTCCCATTTCTCTCAGAGCAAAAATCAGTTTTAAAGACCCTGTCTACCCCTCACTTCTCTGACCTCCTCTCCCCCCAGCCACACTGGTCACCTGGTGGTTCCTCCAGTCCACCAGGGCCCCTCCTGCCACAGGACCTTTGCACTGGCTCTTCCCACTGCCCAGGTGCTCTTCCCCCAGATATCTGTAGGCTCACTCCCTCACCTTCTCATTGAGG... |
Task1_train_10237 | A variant found in Chromosome 6 affects TULP1 (TUB like protein 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Leber congenital amaurosis | GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAA... | GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAA... |
Task1_train_10238 | With a mutation on Chromosome 6 in gene TULP1 (TUB like protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinal dystrophy | GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAA... | GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAA... |
Task1_train_10239 | This genomic variant is located on Chromosome 6, within the TULP1 (TUB like protein 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Retinitis pigmentosa 14 | GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAA... | GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAA... |
Task1_train_10240 | A variant was discovered on Chromosome 6, affecting TULP1 (TUB like protein 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leber congenital amaurosis 15 | GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAA... | GCAGCCTGGCATGGGGGACAGGTGGAGTCCTCACATAGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAA... |
Task1_train_10241 | Mutation context: Chromosome 6, Gene TULP1 (TUB like protein 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Retinitis pigmentosa 14 | AGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTG... | AGATCACAGCTGCCAGCTCCTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTG... |
Task1_train_10242 | A mutation on Chromosome 6 affecting TULP1 (TUB like protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinal dystrophy | CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGA... | CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGA... |
Task1_train_10243 | With a mutation on Chromosome 6 in gene TULP1 (TUB like protein 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinitis pigmentosa 14 | CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGA... | CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGA... |
Task1_train_10244 | Here is a variant affecting TULP1 (TUB like protein 1) on Chromosome 6. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Leber congenital amaurosis 15 | CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGA... | CTGCCGAAGGCTTGCCACATTAGTGCTGTACCCACGCTGTGGGTTCTGCCCGTTGTCAAAGACCGTGAAGCGGTTCCCCAGGAGGTTGGACCTGCAAGCAGGGTAGAGCTTGGGGTGGGGCTGAGGGGATCCTACATCCCTGCCCCAGGCCCCTTCCACACAGCCAAGCAGTTTAGAGAGCTTCCTACAAGGGTGGGGGTGAGTTAGGACTGAGCAATTCATGTCCCCTGCCCCAGGCTTCCCCCTATGCAGAGGTCTTTTTAAATGCTGGCCCAACCCAGGGCATGGTGGCTCAAGCTTGTAATCCCAGCACTTTGGGA... |
Task1_train_10245 | Chromosome 6 houses a mutation in gene LHFPL5 (LHFPL tetraspan subfamily member 5). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 67 | GCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGAATACAGGCACCCGCCACTACGCCCGGCGTAAGTGCATTTCCTGCATTTAATAGATGGCGAAACTGAGGCTCCGGAAGGAAGGTTAAGTCCATGGATGGTTACTTAGTAAGTAGCTCATTCAAATCCAGGCCTGTTGAACCCCAAAGTCCATGTTTTTAAGATTGTCTTGTCTTTCCTTAGCTCCGGACGTTGGTGTTATTATTATTATTATTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC... | GCAATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGAATACAGGCACCCGCCACTACGCCCGGCGTAAGTGCATTTCCTGCATTTAATAGATGGCGAAACTGAGGCTCCGGAAGGAAGGTTAAGTCCATGGATGGTTACTTAGTAAGTAGCTCATTCAAATCCAGGCCTGTTGAACCCCAAAGTCCATGTTTTTAAGATTGTCTTGTCTTTCCTTAGCTCCGGACGTTGGTGTTATTATTATTATTATTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC... |
Task1_train_10246 | This is a variant in LHFPL5 (LHFPL tetraspan subfamily member 5), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | AAGTAAGGCACAGGGTGTGATAATAACTCTCACAGTCAACTCTTATGGAGTGCCAAGTCTGTGCCAGGCACTGTTCTACACTCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAAT... | AAGTAAGGCACAGGGTGTGATAATAACTCTCACAGTCAACTCTTATGGAGTGCCAAGTCTGTGCCAGGCACTGTTCTACACTCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAAT... |
Task1_train_10247 | A variant affecting Chromosome 6, within the gene LHFPL5 (LHFPL tetraspan subfamily member 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive non-syndromic intellectual disability | TCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAATACAAAAATTAGCCGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATCACTTGAATCC... | TCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAATACAAAAATTAGCCGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATCACTTGAATCC... |
Task1_train_10248 | This mutation occurs in LHFPL5 (LHFPL tetraspan subfamily member 5) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 67 | TCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAATACAAAAATTAGCCGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATCACTTGAATCC... | TCTTTTCCAGTATTAACTCATTTGAACCTTGCTGTAACCACAACAGGAAGGTTAGGGTTATTATTATGTCCATTTTGTAGATGAGGAAACTGAGGCAAACAAAGCTTAAGTATGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCCGGCGGATCACTTGAACCCAGGAGTTCAAGACCAACCTGGCCAACGTGGCAAAACCCCGTCTCTATGAAAAATACAAAAATTAGCCGGGCATGGTGGTACATGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATCACTTGAATCC... |
Task1_train_10249 | Given this variant in gene SLC26A8 (solute carrier family 26 member 8) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spermatogenic failure 3 | AGACTAATACAGCCTTGTTGCAGTTGTGGCAGAAAGGACCCAAGTCTAGACTCTATGACTTAATGGTGCAAGTGTCAGAAGCCATTGATTCTGTGTTTACAGACTTTACTCTAATGGATACATGGGACTAGAAGGGAACTGGAGTGAGAAGGCAGCAGCCCGCAGAAACTGGGCTCTCTGTGCACTTCTTAGTCTCCTGTTATAAATGTGAAATGTTTCCTTGGCTTTGGCAGATTTCTGTGCCTGTCCCTGCCATCCTGACAACTTATTCCTGGTTTGACATTTCTAGTTGAGCCCTTGGTATCATAGCCTCCATCTAG... | AGACTAATACAGCCTTGTTGCAGTTGTGGCAGAAAGGACCCAAGTCTAGACTCTATGACTTAATGGTGCAAGTGTCAGAAGCCATTGATTCTGTGTTTACAGACTTTACTCTAATGGATACATGGGACTAGAAGGGAACTGGAGTGAGAAGGCAGCAGCCCGCAGAAACTGGGCTCTCTGTGCACTTCTTAGTCTCCTGTTATAAATGTGAAATGTTTCCTTGGCTTTGGCAGATTTCTGTGCCTGTCCCTGCCATCCTGACAACTTATTCCTGGTTTGACATTTCTAGTTGAGCCCTTGGTATCATAGCCTCCATCTAG... |
Task1_train_10250 | This variant lies on Chromosome 6 and affects the gene SLC26A8 (solute carrier family 26 member 8). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spermatogenic failure 3 | GATGTATCCATATAGTAGAATATTACTAAGCAATAAAAATGAACTATTGATACACACAACAATTTGCGTGAATCTCAAAGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTT... | GATGTATCCATATAGTAGAATATTACTAAGCAATAAAAATGAACTATTGATACACACAACAATTTGCGTGAATCTCAAAGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTT... |
Task1_train_10251 | Here’s a variant in SLC26A8 (solute carrier family 26 member 8) located on Chromosome 6. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Spermatogenic failure 3 | CAATAAAAATGAACTATTGATACACACAACAATTTGCGTGAATCTCAAAGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCT... | CAATAAAAATGAACTATTGATACACACAACAATTTGCGTGAATCTCAAAGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCT... |
Task1_train_10252 | This alteration in SLC26A8 (solute carrier family 26 member 8) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Spermatogenic failure 3 | AGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAC... | AGGCACAATGCATAATGAAAGAAGCCAGCCTTTGAAATTTACATACTGTATGATTCCATTTATATGATGTGCTCAAAAAGACAGAATTATGGTGCTGGAGAACAGATCAATGGTTGCTAGGGGTTATAGATTGGGGGGTATGTGGCTTAAAAAGCATGGCATGAGAGAGTTCTGGAGGTGATGGAACTACTCTGCATCAATTGTGGTGGTGGTTACACAAATCTATATATGTATTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAAC... |
Task1_train_10253 | Gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Congenital ichthyosiform erythroderma | CTTCTCTGCAAGGGGCTCTTGCTGCTCCTCGACCAGTGCCTGCCTGCTCCTCCCAGCTGCCTCCAGTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGG... | CTTCTCTGCAAGGGGCTCTTGCTGCTCCTCGACCAGTGCCTGCCTGCTCCTCCCAGCTGCCTCCAGTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGG... |
Task1_train_10254 | A sequence alteration has been identified in PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive congenital ichthyosis 10 | CAAGGGGCTCTTGCTGCTCCTCGACCAGTGCCTGCCTGCTCCTCCCAGCTGCCTCCAGTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAG... | CAAGGGGCTCTTGCTGCTCCTCGACCAGTGCCTGCCTGCTCCTCCCAGCTGCCTCCAGTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAG... |
Task1_train_10255 | This variant affects the gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) found on Chromosome 6. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Congenital ichthyosiform erythroderma | GTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAA... | GTCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAA... |
Task1_train_10256 | The gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autosomal recessive congenital ichthyosis 10 | TCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAA... | TCCCGCAGCCCACACCTCCGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAA... |
Task1_train_10257 | The gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 10 | CGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCC... | CGCCGCACAGCTCCTCAGATGTTCCAGCCCACACTGCTCAGCCCCGCCTCCTAACTTTTCTGGCAGGAATCTCAGCCCTGCACAGTTTAGTACTTAATTATAGATTGCCTTGTACAGTTTTCTGCTTATTTCACATTTGCCTGTCTTGTTCCCAAGAAGCCTGCAAATATCTGATTTGGGGATGGAGCTTCTGTGTGCTCCTGTCCCCCAGGGCCCCGACACAGCACAGGGCTTGGCACACAAGCCCTCAGTGGAGCTGACCTCACCTCCCAGGAAGGGGGCAGGGTCTCTGCTGTCCAAAAGCTGACTGGACTCCACCC... |
Task1_train_10258 | This variant affects gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) located on Chromosome 6. Evaluate its biological effect and specify any disease association. | Pathogenic; Congenital ichthyosiform erythroderma | CTGCCCTCCCTTGAAGGTAAACACTGTTTACCTCTGTTGGCACATGGTAAGGCTAACCTCACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCA... | CTGCCCTCCCTTGAAGGTAAACACTGTTTACCTCTGTTGGCACATGGTAAGGCTAACCTCACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCA... |
Task1_train_10259 | Chromosome 6 houses a mutation in gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive congenital ichthyosis 10 | GTTTACCTCTGTTGGCACATGGTAAGGCTAACCTCACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCA... | GTTTACCTCTGTTGGCACATGGTAAGGCTAACCTCACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCA... |
Task1_train_10260 | Gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 10 | CACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTT... | CACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTT... |
Task1_train_10261 | A sequence alteration has been identified in PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6. Is it disease-inducing or harmless? | Pathogenic; Congenital ichthyosiform erythroderma | CACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTT... | CACTAAAACCGTAGGGCCTTTCTGCCTCCCAGGAGCACCCTCCCCTGTAGGAGGGTGACAATTACGATGCTGCATTGCTCAGGGAGGTCCCTGCTACACATATGCAGGTGTGATTCTGAAGGTTCGAAAAAAAAAAAGGCTGTCACCATGGCAACCCAGGCTTGCTCAGCCTCTTCATTCCTGAGATCAGTCCAAGCCCCAGGGAAAGAAGGTGGGGTATGGAGTCAGAAAAATCACTGCCTGGCTGCCTGACCTCAGGCAAGACACTTAGCTTTTCTCTGTGTCAGTTTCTGCGTCTGTAAAATGGTGCTGAAGCTTTT... |
Task1_train_10262 | This alteration in PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Congenital ichthyosiform erythroderma | CTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAA... | CTGTTGATATGAAGGTGTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAA... |
Task1_train_10263 | Mutation context: Chromosome 6, Gene PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 10 | GTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAG... | GTCTGTCACGTAATGACTCCTGGACAAAGGTCAGGATGCCTGGGTCCAGCTCCATCATTGCCTAGCTCTGGGCTCTCCGGAGCCAGCGACTTCCTTCCTCAATATCTTGCTTCCGTCATGTGCAAGACAGCAGGCCGATTCCTGGGGTTTTCCCAGCTTCCGAATTCTAGGTTTCCCCATTTGTTGGATTCAGAGATGAGTTGGAGAAACCACCCTAGACCTCCCTTGGCCCCTGGCCACTGGGTGGCACCGACCACCCCCTCTTCTCTGCTTCCTTTGCAGATGAGTATCTCAGAGTCCTCAACGTGGGTGTGGCCGAG... |
Task1_train_10264 | A genetic alteration is present in PNPLA1 (patatin like domain 1, omega-hydroxyceramide transacylase) on Chromosome 6. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | GTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTC... | GTGTGGCCTCCTTCCCACATCTCCACTCTCCTTCCTTCCCCCACATACAGGGGCTTCGCCACTCCATCCTCATCCCATACTGGCCTGGCAGTAATCCTGGGGATGAGGGATGAATAGGCAGTGGGCACAGACACCACCTCCGTCCCTCAGGCCCCCTGGGTTTATCAGCAGCCAGCTCTTCCAGATCTGCCTCCTCACGCCCACCCCCGTTCTGACTTCACTGCCCACTGCTGCAGTTTTCTCTTCCCGGCCCTCTCCCCCACCTTCCACTCCTACCATGCCAACCCTAGCAAACCACACACAAGCCAGGCCTCTGGGTC... |
Task1_train_10265 | Given this variant in gene DNAH8 (dynein axonemal heavy chain 8) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spermatogenic failure 46 | CTGAGGCTCAGCGAGACTTAAAAACTTCCTAGGTCACCCAGCCAGTAAGAGAAAGAAGAAGTTGTTGTCTCTCTAACATAAAAATCTGACTGCTTAACCTCCACACTTGGTTTTTCTTTGACACCGAATAAAAGGAAATAAAAATAAAATTTCTGCAATAATTTAACAAGGTCCTATACGAAAGAATTGTAACAAATTCAGTTACCATGTGATTAAGGGTGAGCTTTGAGATTCAGTGTTGTAAAGATAGGAAACCAAAGGCATGAATAAACGGGAGTTTTTATGCTTTTATGTATCACCAGTTTTAAAGCTTTTATGTG... | CTGAGGCTCAGCGAGACTTAAAAACTTCCTAGGTCACCCAGCCAGTAAGAGAAAGAAGAAGTTGTTGTCTCTCTAACATAAAAATCTGACTGCTTAACCTCCACACTTGGTTTTTCTTTGACACCGAATAAAAGGAAATAAAAATAAAATTTCTGCAATAATTTAACAAGGTCCTATACGAAAGAATTGTAACAAATTCAGTTACCATGTGATTAAGGGTGAGCTTTGAGATTCAGTGTTGTAAAGATAGGAAACCAAAGGCATGAATAAACGGGAGTTTTTATGCTTTTATGTATCACCAGTTTTAAAGCTTTTATGTG... |
Task1_train_10266 | The gene DAAM2 (dishevelled associated activator of morphogenesis 2), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Nephrotic syndrome, type 24 | CTGTCTTAGCTGTAATGCTCTTTAATAGCCCAGTGTTCTTAGACCACTCACGCCAACCCCCTACAAGCCTTCTGTGTTGGATGGATCACCCCCCAAGGTCTGCTATGGGTGGCTCTACCATAGAACATTTACCACCCTTTCTCTGGCACTGGACTGTTACATGGAAGGCAGAGACCATGACTCTTTACTCCGTACTTTCAGAGCTCAGCACAGTGATTGGCATCTAGTAGGTCCCCATTCAGTGCATATGGCATGGGTAAATGACGAGCCAGCAAGTTTAGGAAAGGATGTGTTTGCCGACACAATTGTTTTTGGTGCTG... | CTGTCTTAGCTGTAATGCTCTTTAATAGCCCAGTGTTCTTAGACCACTCACGCCAACCCCCTACAAGCCTTCTGTGTTGGATGGATCACCCCCCAAGGTCTGCTATGGGTGGCTCTACCATAGAACATTTACCACCCTTTCTCTGGCACTGGACTGTTACATGGAAGGCAGAGACCATGACTCTTTACTCCGTACTTTCAGAGCTCAGCACAGTGATTGGCATCTAGTAGGTCCCCATTCAGTGCATATGGCATGGGTAAATGACGAGCCAGCAAGTTTAGGAAAGGATGTGTTTGCCGACACAATTGTTTTTGGTGCTG... |
Task1_train_10267 | Here is a genetic alteration in DAAM2 (dishevelled associated activator of morphogenesis 2) on Chromosome 6. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Nephrotic syndrome, type 24 | GGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCATCATTGCACTCTAGCCTAGGGGACAAGAGCAAAACTCCATCTCAAAGAAACAACAAAAAAAGCAACAATAGAAGAACTTGAAGAGCAGGTGAACGTTCCAAATTCTAAGGCAATCAGATGCCCTGGTCAAGGTTAACTTGAAGGACAGAGGGGGCAAAGGGAGCAATTTAATGATCTTTACTTTCCCCTCTTTTCCGCCAGCATACTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAACAATTTATCTTTATGCCC... | GGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCATCATTGCACTCTAGCCTAGGGGACAAGAGCAAAACTCCATCTCAAAGAAACAACAAAAAAAGCAACAATAGAAGAACTTGAAGAGCAGGTGAACGTTCCAAATTCTAAGGCAATCAGATGCCCTGGTCAAGGTTAACTTGAAGGACAGAGGGGGCAAAGGGAGCAATTTAATGATCTTTACTTTCCCCTCTTTTCCGCCAGCATACTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAACAATTTATCTTTATGCCC... |
Task1_train_10268 | This gene mutation involves DAAM2 (dishevelled associated activator of morphogenesis 2) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Idiopathic multidrug-resistant nephrotic syndrome | GTTCCAAGTAGGGCCCCAGTCTACCCTACCTCCCTCCCAACTTCAGGGAACATGAGTCAAAACTCTTGGGGAAGGCCCAAAGAAACCCCTTCCTTGGATGGTGGTGAAGGAGGTAGCATCTTGGGGATAACAGCAGTGGCCCTCTTCAAAGAAATGTCTTCATGAAATACTCTCCCTCTCCATACTCTGTTCTCTATGTCCTTGATGTGGCTGAAGAGGCCAAAAGTCATGGGTCTAACTCTTCCACATTCTCAGATTTATAAAGGAAAGGATTCTTGGGATCTCGCTTTGGGATTTCACCTCTGTTAGGCCTTGGTGTC... | GTTCCAAGTAGGGCCCCAGTCTACCCTACCTCCCTCCCAACTTCAGGGAACATGAGTCAAAACTCTTGGGGAAGGCCCAAAGAAACCCCTTCCTTGGATGGTGGTGAAGGAGGTAGCATCTTGGGGATAACAGCAGTGGCCCTCTTCAAAGAAATGTCTTCATGAAATACTCTCCCTCTCCATACTCTGTTCTCTATGTCCTTGATGTGGCTGAAGAGGCCAAAAGTCATGGGTCTAACTCTTCCACATTCTCAGATTTATAAAGGAAAGGATTCTTGGGATCTCGCTTTGGGATTTCACCTCTGTTAGGCCTTGGTGTC... |
Task1_train_10269 | Chromosome 6 houses a mutation in gene DAAM2 (dishevelled associated activator of morphogenesis 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Nephrotic syndrome, type 24 | GTCTCAGTGCTCTAGAGAAAGAAAGATGGCAGGGTGGGCTGGCTGCTAATGTTAGCTCATAGTCTTTGCCATCCTTAGAACTTTGAGATGCAGGGTGTTCCCTCTTCCAAAGGGCTCAATGTCCTGTGAGTGACGAGGGGAGATGTGGTGACCCCTGCACCCGACTCTCATCTTGGCACCAGTCTAAGCAGCACTTCACCCTCCCTCCTCAGGAGCTGGAGTATCAGAGGCGCCAGGTACGGGAGCCCAGTGACAAGTTTGTCCCTGTCATGAGCGACTTCATCACGGTGTCCAGCTTCAGCTTCTCCGAGCTGGAGGAC... | GTCTCAGTGCTCTAGAGAAAGAAAGATGGCAGGGTGGGCTGGCTGCTAATGTTAGCTCATAGTCTTTGCCATCCTTAGAACTTTGAGATGCAGGGTGTTCCCTCTTCCAAAGGGCTCAATGTCCTGTGAGTGACGAGGGGAGATGTGGTGACCCCTGCACCCGACTCTCATCTTGGCACCAGTCTAAGCAGCACTTCACCCTCCCTCCTCAGGAGCTGGAGTATCAGAGGCGCCAGGTACGGGAGCCCAGTGACAAGTTTGTCCCTGTCATGAGCGACTTCATCACGGTGTCCAGCTTCAGCTTCTCCGAGCTGGAGGAC... |
Task1_train_10270 | Consider this mutation in MOCS1 (molybdenum cofactor synthesis 1) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | CCACCTGGCTGGAGAAACTCATTCTGGGTCTTAGACCCTGAACATGGAGCGGGTCCCAGGAGAAAATGCTTGGATTGGCTGGTGGGGAATTGGGGAACATCAAAAATAACTCTGCAAGGCAAGAAGAAAAGAGAAGAAACACTAAGTCCAAAAGGCAATTCTTTTTCCCACCTCTACTCCCCAACCCTCTCCCTATCCCACCTCAAGTTCTCTTTCATACCGGGGAAAGAGGAATGAAGAACAAAAAGCATAGTGGGACAAGACAAAGTAGAAGATCCACAGATAGATGGCACCCAGAGTCCAAGTTCACAGCCCTTCTC... | CCACCTGGCTGGAGAAACTCATTCTGGGTCTTAGACCCTGAACATGGAGCGGGTCCCAGGAGAAAATGCTTGGATTGGCTGGTGGGGAATTGGGGAACATCAAAAATAACTCTGCAAGGCAAGAAGAAAAGAGAAGAAACACTAAGTCCAAAAGGCAATTCTTTTTCCCACCTCTACTCCCCAACCCTCTCCCTATCCCACCTCAAGTTCTCTTTCATACCGGGGAAAGAGGAATGAAGAACAAAAAGCATAGTGGGACAAGACAAAGTAGAAGATCCACAGATAGATGGCACCCAGAGTCCAAGTTCACAGCCCTTCTC... |
Task1_train_10271 | A variant on Chromosome 6 in gene TREM2 (triggering receptor expressed on myeloid cells 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | AACTGATTCTGGTCCTACCAATGAAGCAGAGATCTGGGGGTCTTAGCTTTGTACTAAAGTACTAAAACATTCATTGTTGCTGAATTATGGGGATGTCTGGGGGCTGCCAGGGGAGGGGCGGGAGCTGATATTCAGGAGTCGTAGAGCAACTGCTCTTTACAAAGCATTATGGAAGTCTTCCAATAAATGAACAACTGACACAGTCACGCTAACTAACTAACATGTAGCAGCTGGTGGAGGGGTGTTTACATAAGAGATATCCAGGGCCCTTCAGGCTCTAGTTGCCTTGTAATTTGTAGTTCAGGATGCCCAGCCCCCAC... | AACTGATTCTGGTCCTACCAATGAAGCAGAGATCTGGGGGTCTTAGCTTTGTACTAAAGTACTAAAACATTCATTGTTGCTGAATTATGGGGATGTCTGGGGGCTGCCAGGGGAGGGGCGGGAGCTGATATTCAGGAGTCGTAGAGCAACTGCTCTTTACAAAGCATTATGGAAGTCTTCCAATAAATGAACAACTGACACAGTCACGCTAACTAACTAACATGTAGCAGCTGGTGGAGGGGTGTTTACATAAGAGATATCCAGGGCCCTTCAGGCTCTAGTTGCCTTGTAATTTGTAGTTCAGGATGCCCAGCCCCCAC... |
Task1_train_10272 | A variant affecting Chromosome 6, within the gene GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | ACACCCATGGCACACAATCACACTTTGCATAATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTA... | ACACCCATGGCACACAATCACACTTTGCATAATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTA... |
Task1_train_10273 | A mutation on Chromosome 6 affecting GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | AATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAG... | AATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAG... |
Task1_train_10274 | The gene GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinal dystrophy | ATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGG... | ATACTGTCTTGACCCATTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGG... |
Task1_train_10275 | A mutation found in GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cone dystrophy 3 | TTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCT... | TTGTCATCAGCATGGAGCAGTTTAGCAGATTGGCTAGGAGATGGAACACAGGATTGGGAAGTTTTTGTTGTTGTTGTTGTTTTGTTTTTTGTTGTTGTTGTTGTTTTTTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACATTGGCCAGGCTGGTCTCGAACTCCT... |
Task1_train_10276 | This mutation is located in gene GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough) on Chromosome 6. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Retinal dystrophy | TTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCC... | TTAGGAGAGGCTTTGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCC... |
Task1_train_10277 | Consider this mutation in GUCA1A, GUCA1ANB-GUCA1A (guanylate cyclase activator 1A| GUCA1ANB-GUCA1A readthrough) on Chromosome 6. Is this a benign change or a disease-causing variant? | Pathogenic; Cone dystrophy 3 | TGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCAT... | TGTCATTCACTAGCTGTTTGGCCTAATCTCTCTCAACTTTGGCTTTGTCATTCAAACTAGAGACAAAAATATTCACCTCTTGGGGGTGGCTTGAGATTAAATGAGTAAAATGAATAAAGCACTCAGCCTAGGAAGTCCATGGAGAGCACTAAGAAAAGTTAGTATTGCTATATATTTTCATTGAATCTAATGCATACCACAATCTTGAAAAGTGCACACTGTCATTCCATTTTATACCTGGGAATACGGAGACTCAAGGTCATGTGACTTATCCAAGGTGATTTAGATCTTTCTGGCACAAAAATCCACACCTTTTCCAT... |
Task1_train_10278 | Gene PRPH2 (peripherin 2) on Chromosome 6 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; PRPH2-related disorder | TGATAGCATTAGGACAGTGACTCATTTAAAGGAATCTTTGGGAATCTCCTCAATGGAAAAAGCTTCCTCACCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGG... | TGATAGCATTAGGACAGTGACTCATTTAAAGGAATCTTTGGGAATCTCCTCAATGGAAAAAGCTTCCTCACCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGG... |
Task1_train_10279 | This mutation occurs in PRPH2 (peripherin 2) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinal dystrophy | TGATAGCATTAGGACAGTGACTCATTTAAAGGAATCTTTGGGAATCTCCTCAATGGAAAAAGCTTCCTCACCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGG... | TGATAGCATTAGGACAGTGACTCATTTAAAGGAATCTTTGGGAATCTCCTCAATGGAAAAAGCTTCCTCACCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGG... |
Task1_train_10280 | This mutation occurs in PRPH2 (peripherin 2) on Chromosome 6. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinal dystrophy | CCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGT... | CCAAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGT... |
Task1_train_10281 | Consider a variant on Chromosome 6 in gene PRPH2 (peripherin 2). Determine its clinical classification and disease relevance. | Pathogenic; Retinal dystrophy | AAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGG... | AAATCTTCCTGGCTTTGTACATTGGGATTTTGAAGTTTGGATTTTCTGCTCTCAAGGTAGCTCAAAGCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGG... |
Task1_train_10282 | The gene PRPH2 (peripherin 2) on Chromosome 6 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinal dystrophy | GCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGG... | GCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGG... |
Task1_train_10283 | The following genetic variant occurs in PRPH2 (peripherin 2) on Chromosome 6. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; PRPH2-related disorder | GCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGG... | GCAGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGG... |
Task1_train_10284 | This sequence variant lies in PRPH2 (peripherin 2) on Chromosome 6. Is it clinically significant, and what condition might it cause if any? | Pathogenic; PRPH2-related disorder | AGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTG... | AGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTG... |
Task1_train_10285 | The gene PRPH2 (peripherin 2), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Retinal dystrophy | AGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTG... | AGCTACCCTGAGTCACCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTG... |
Task1_train_10286 | An alteration has been detected in PRPH2 (peripherin 2) on Chromosome 6. Is it pathogenic, and if so, what disease is involved? | Pathogenic; PRPH2-related disorder | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... |
Task1_train_10287 | Chromosome 6 houses a mutation in gene PRPH2 (peripherin 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinitis pigmentosa | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... |
Task1_train_10288 | This is a variant in PRPH2 (peripherin 2), located on Chromosome 6. Is this mutation a likely cause of disease or not? | Pathogenic; Patterned dystrophy of the retinal pigment epithelium | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... |
Task1_train_10289 | The gene PRPH2 (peripherin 2), on Chromosome 6, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Retinal dystrophy | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... |
Task1_train_10290 | Mutation context: Chromosome 6, Gene PRPH2 (peripherin 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Retinal dystrophy | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... |
Task1_train_10291 | Mutation context: Chromosome 6, Gene PRPH2 (peripherin 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; PRPH2-related disorder | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... | CCATGCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGC... |
Task1_train_10292 | A mutation on Chromosome 6 affecting PRPH2 (peripherin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; PRPH2-related disorder | GCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAG... | GCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAG... |
Task1_train_10293 | Given this variant in gene PRPH2 (peripherin 2) on Chromosome 6, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; PRPH2-related disorder | GCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAG... | GCCACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAG... |
Task1_train_10294 | This alteration occurs within gene PRPH2 (peripherin 2) located on Chromosome 6. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | CACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGAT... | CACCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGAT... |
Task1_train_10295 | Gene PRPH2 (peripherin 2) on Chromosome 6 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; PRPH2-related disorder | CCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCG... | CCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCG... |
Task1_train_10296 | This gene mutation involves PRPH2 (peripherin 2) on Chromosome 6. Is it associated with any clinical condition, or is it benign? | Pathogenic; Patterned dystrophy of the retinal pigment epithelium | CCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCG... | CCTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCG... |
Task1_train_10297 | With a mutation on Chromosome 6 in gene PRPH2 (peripherin 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; PRPH2-related disorder | CTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGT... | CTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGT... |
Task1_train_10298 | A mutation on Chromosome 6 affecting PRPH2 (peripherin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Stargardt disease | CTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGT... | CTCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGT... |
Task1_train_10299 | A mutation found in PRPH2 (peripherin 2) on Chromosome 6 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; PRPH2-related disorder | TCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTG... | TCATTTACTAACAGGCTCTCATTCAACACCTGAGCTGTGCCTGGCATATGGGTACATGTTTAAGAAATATCTCTGACCACGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGAGGCTGGTGGATTATTTGAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAACTGGCTAGGCGTGGTGGTGCACGCCTGTAATCACAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCGTG... |
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