ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
|---|---|---|---|---|
Task1_train_900 | The gene COA7, LOC129388524 (cytochrome c oxidase assembly factor 7| MPRA-validated peak230 silencer) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | TGGCACAGTCTCAGTTTACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGGATTACAGGTATGCATCACCACGCCCAGCTAATTTTTATATTTTTAGTAGAGAAAGGGGTTTCGTCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCACGCCTGGCCTGACCTAGTTTAAGCACACCAAAAGCTACTTTACATTTTTAAAAAGTGAATTTGATGTCTTTTGAAATCTCCTCTG... | TGGCACAGTCTCAGTTTACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGGATTACAGGTATGCATCACCACGCCCAGCTAATTTTTATATTTTTAGTAGAGAAAGGGGTTTCGTCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCACGCCTGGCCTGACCTAGTTTAAGCACACCAAAAGCTACTTTACATTTTTAAAAAGTGAATTTGATGTCTTTTGAAATCTCCTCTG... |
Task1_train_901 | This sequence change occurs on Chromosome 1, altering COA7, LOC129388524 (cytochrome c oxidase assembly factor 7| MPRA-validated peak230 silencer). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | AGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGGATTACAGGTATGCATCACCACGCCCAGCTAATTTTTATATTTTTAGTAGAGAAAGGGGTTTCGTCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCACGCCTGGCCTGACCTAGTTTAAGCACACCAAAAGCTACTTTACATTTTTAAAAAGTGAATTTGATGTCTTTTGAAATCTCCTCTGTGCACTTGGGGAAGTCCCTGTCCTCTATCAACTTGA... | AGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGAAGTAGCTGGGATTACAGGTATGCATCACCACGCCCAGCTAATTTTTATATTTTTAGTAGAGAAAGGGGTTTCGTCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAATGCTAGGATTACAGGCATGAGCCACCACGCCTGGCCTGACCTAGTTTAAGCACACCAAAAGCTACTTTACATTTTTAAAAAGTGAATTTGATGTCTTTTGAAATCTCCTCTGTGCACTTGGGGAAGTCCCTGTCCTCTATCAACTTGA... |
Task1_train_902 | This alteration occurs within gene COA7 (cytochrome c oxidase assembly factor 7) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | CTCCCAGGTTCAAGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCATGCCACCACGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTAATCATATTGGTCAGGCTGGTCTTGAACTCCTGTCCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCAACCCCAGGTTCTTTTCAAGCCATCATACTGCAGAGCAACTCTGTGTCATGACTATGTTATGATATGTATATGGTTGTGTTATGGTCTATGTTACGGATTAGCCTCAAG... | CTCCCAGGTTCAAGCCATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCATGCCACCACGTCCGGCTAATTTTTGTATTTTTAGTAGAGACAGTTTAATCATATTGGTCAGGCTGGTCTTGAACTCCTGTCCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCAACCCCAGGTTCTTTTCAAGCCATCATACTGCAGAGCAACTCTGTGTCATGACTATGTTATGATATGTATATGGTTGTGTTATGGTCTATGTTACGGATTAGCCTCAAG... |
Task1_train_903 | The variant affects gene CPT2, LOC129930561 (carnitine palmitoyltransferase 2| ATAC-STARR-seq lymphoblastoid silent region 902), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Carnitine palmitoyl transferase II deficiency, neonatal form | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... |
Task1_train_904 | Given this context: Chromosome 1, gene CPT2, LOC129930561 (carnitine palmitoyltransferase 2| ATAC-STARR-seq lymphoblastoid silent region 902) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Carnitine palmitoyl transferase II deficiency, myopathic form | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... |
Task1_train_905 | Given this variant in gene CPT2, LOC129930561 (carnitine palmitoyltransferase 2| ATAC-STARR-seq lymphoblastoid silent region 902) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Carnitine palmitoyl transferase II deficiency, severe infantile form | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... |
Task1_train_906 | Given a variant located on Chromosome 1 and affecting CPT2, LOC129930561 (carnitine palmitoyltransferase 2| ATAC-STARR-seq lymphoblastoid silent region 902), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Encephalopathy, acute, infection-induced, susceptibility to, 4 | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... |
Task1_train_907 | Given this variant in gene CPT2, LOC129930561 (carnitine palmitoyltransferase 2| ATAC-STARR-seq lymphoblastoid silent region 902) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Carnitine palmitoyl transferase II deficiency, myopathic form | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... |
Task1_train_908 | A variant was discovered in gene CPT2, LOC129930561 (carnitine palmitoyltransferase 2| ATAC-STARR-seq lymphoblastoid silent region 902), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Carnitine palmitoyl transferase II deficiency, severe infantile form | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... |
Task1_train_909 | Here is a variant affecting CPT2, LOC129930561 (carnitine palmitoyltransferase 2| ATAC-STARR-seq lymphoblastoid silent region 902) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Encephalopathy, acute, infection-induced, susceptibility to, 4 | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... |
Task1_train_910 | The following genetic variant occurs in CPT2, LOC129930561 (carnitine palmitoyltransferase 2| ATAC-STARR-seq lymphoblastoid silent region 902) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Carnitine palmitoyltransferase II deficiency | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... | ATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATAT... |
Task1_train_911 | Here is a variant affecting CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Carnitine palmitoyltransferase II deficiency | ATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTAT... | ATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTAT... |
Task1_train_912 | A variant was discovered on Chromosome 1, affecting CPT2 (carnitine palmitoyltransferase 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Carnitine palmitoyl transferase II deficiency, neonatal form | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... |
Task1_train_913 | Here is a genetic alteration in CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Encephalopathy, acute, infection-induced, susceptibility to, 4 | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... |
Task1_train_914 | Located on Chromosome 1, this mutation impacts CPT2 (carnitine palmitoyltransferase 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Carnitine palmitoyl transferase II deficiency, severe infantile form | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... |
Task1_train_915 | This sequence variant lies in CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Carnitine palmitoyl transferase II deficiency, myopathic form | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... |
Task1_train_916 | This mutation is located in gene CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Encephalopathy, acute, infection-induced, susceptibility to, 4 | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... |
Task1_train_917 | A mutation found in CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Carnitine palmitoyltransferase II deficiency | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... |
Task1_train_918 | This alteration occurs within gene CPT2 (carnitine palmitoyltransferase 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Carnitine palmitoyl transferase II deficiency, severe infantile form | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... | TTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTAT... |
Task1_train_919 | Consider this mutation in CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Carnitine palmitoyltransferase II deficiency | GGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAA... | GGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAA... |
Task1_train_920 | This gene mutation involves CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Carnitine palmitoyltransferase II deficiency | TCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTC... | TCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTC... |
Task1_train_921 | A genetic alteration is present in CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Carnitine palmitoyltransferase II deficiency | GGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCAC... | GGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCAC... |
Task1_train_922 | Mutation context: Chromosome 1, Gene CPT2 (carnitine palmitoyltransferase 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Encephalopathy, acute, infection-induced, susceptibility to, 4 | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... |
Task1_train_923 | The gene CPT2 (carnitine palmitoyltransferase 2), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Carnitine palmitoyl transferase II deficiency, neonatal form | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... |
Task1_train_924 | The following genetic variant occurs in CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Carnitine palmitoyl transferase II deficiency, myopathic form | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... |
Task1_train_925 | A genetic alteration is present in CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Carnitine palmitoyl transferase II deficiency, severe infantile form | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... |
Task1_train_926 | The gene CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Encephalopathy, acute, infection-induced, susceptibility to, 4 | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... |
Task1_train_927 | A mutation found in CPT2 (carnitine palmitoyltransferase 2) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Carnitine palmitoyltransferase II deficiency | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... |
Task1_train_928 | Consider a variant on Chromosome 1 in gene CPT2 (carnitine palmitoyltransferase 2). Determine its clinical classification and disease relevance. | Pathogenic; Carnitine palmitoyl transferase II deficiency, severe infantile form | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... | ACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAG... |
Task1_train_929 | Mutation context: Chromosome 1, Gene DIO1 (iodothyronine deiodinase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Thyroid hormone metabolism, abnormal, 2 | ACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACACTCCAGCCTGGACAACAGAGCGAGGCTCTGTCTCAAAAATAAATAAATAAAGAGTGACACATGGTGGGGAAAATCAGCCCTGATTACTTTAAGAAGTTGGGGGCTGGGCATGGTGGCTCATTCCCATAATCCCAGCATTTTGAGAGATCAAGGAAGGAGGATTGTTTGAGGTCAAGAGTTCAAGACCAGCCTGGGCAACATAAGGAGAAGCTATAACAGTCAC... | ACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACACTCCAGCCTGGACAACAGAGCGAGGCTCTGTCTCAAAAATAAATAAATAAAGAGTGACACATGGTGGGGAAAATCAGCCCTGATTACTTTAAGAAGTTGGGGGCTGGGCATGGTGGCTCATTCCCATAATCCCAGCATTTTGAGAGATCAAGGAAGGAGGATTGTTTGAGGTCAAGAGTTCAAGACCAGCCTGGGCAACATAAGGAGAAGCTATAACAGTCAC... |
Task1_train_930 | Consider this mutation in DIO1 (iodothyronine deiodinase 1) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Thyroid hormone metabolism, abnormal, 2 | TGAGGAAACTGAAGTGCTATGAATAGAAAGAGCACTGAATTGAGAGTTCAGAAACCAGAATGTTCATTTTAACTCCTCACTGACCTGCTGTGTGACCTGGAGCAAATGTGTAAAACTCAGTTTCTTTGTCTATAAAATGGGGGGAAAAAATGACCAACCTTGCAGTATTACTAATCCCATCGCATGACAGAATGGATGCATACCTGCCTTATAAACTGCATGAAAGGGACTCCTCTTATATTTAAACTGCTATGCGGCAACTGCAGGTGGTCCACTGAGACCACCTAAAAAAACCTCTCATTTTAGAGAGGAGTAAACCA... | TGAGGAAACTGAAGTGCTATGAATAGAAAGAGCACTGAATTGAGAGTTCAGAAACCAGAATGTTCATTTTAACTCCTCACTGACCTGCTGTGTGACCTGGAGCAAATGTGTAAAACTCAGTTTCTTTGTCTATAAAATGGGGGGAAAAAATGACCAACCTTGCAGTATTACTAATCCCATCGCATGACAGAATGGATGCATACCTGCCTTATAAACTGCATGAAAGGGACTCCTCTTATATTTAAACTGCTATGCGGCAACTGCAGGTGGTCCACTGAGACCACCTAAAAAAACCTCTCATTTTAGAGAGGAGTAAACCA... |
Task1_train_931 | This mutation occurs in DHCR24 (24-dehydrocholesterol reductase) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Desmosterolosis | TTTGCACTGAGCAAGGAAGCACATGGGTCTCCTATGAGAGCTAATGCCAGAATTCACATGCTTTGTAAAATATAGGATGAGGTTTATTTCTTTCTTCTGCCCCCTCCAGAGGCCAAATGGGTAGGGTGGTTCCTTTGCCTTCTGAGTGCCTGGATGCCCCCAGCCCTCACAAGACCCTGCTAAGACACTGGCAGTGTGCCAAGCCTTGGGTGGGATGGGTGAACACCCTTCAATGACTCTGAGAGGATTCTGGCACCTGGAATGACAAGACAGATGCTTCCCTGCAAGCCAGGTATGAGCCTTTCTGGAAATGAGATGGG... | TTTGCACTGAGCAAGGAAGCACATGGGTCTCCTATGAGAGCTAATGCCAGAATTCACATGCTTTGTAAAATATAGGATGAGGTTTATTTCTTTCTTCTGCCCCCTCCAGAGGCCAAATGGGTAGGGTGGTTCCTTTGCCTTCTGAGTGCCTGGATGCCCCCAGCCCTCACAAGACCCTGCTAAGACACTGGCAGTGTGCCAAGCCTTGGGTGGGATGGGTGAACACCCTTCAATGACTCTGAGAGGATTCTGGCACCTGGAATGACAAGACAGATGCTTCCCTGCAAGCCAGGTATGAGCCTTTCTGGAAATGAGATGGG... |
Task1_train_932 | A mutation in DHCR24 (24-dehydrocholesterol reductase), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Desmosterolosis | AAAGGAATATAAACCATTGTATCATAAAGACACATGCATGTGTATGTTTACTGCAGCACAACTCACAATAGCAAAGACATGGAATCAACTTAAATGCCCATCAGTGGTAGACTGGATAAAGAAAATGTGGTACGTATACACCATGGAATACTATGCAGCCATGTTCCTTTGCAAGAACATGGATGCAGCTGGAAGCCATTATCCTTAGCAAACTAATGCAGGAACAGGAAACCAAATACCGCATGTTCTCACTTATAAGTGGGAGCTAAATGATGAGAACACATGGACACATACAGGGGAACAACAGACACTGGGTCCTA... | AAAGGAATATAAACCATTGTATCATAAAGACACATGCATGTGTATGTTTACTGCAGCACAACTCACAATAGCAAAGACATGGAATCAACTTAAATGCCCATCAGTGGTAGACTGGATAAAGAAAATGTGGTACGTATACACCATGGAATACTATGCAGCCATGTTCCTTTGCAAGAACATGGATGCAGCTGGAAGCCATTATCCTTAGCAAACTAATGCAGGAACAGGAAACCAAATACCGCATGTTCTCACTTATAAGTGGGAGCTAAATGATGAGAACACATGGACACATACAGGGGAACAACAGACACTGGGTCCTA... |
Task1_train_933 | Here’s a variant in BSND (barttin CLCNK type accessory subunit beta) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Bartter disease type 4A | TCACCGGGTCCGAGCCCAGCCGCTGACCCCGGGGGAAGCGCCTTGCTCAGCGCCGGGCGGCCCACGAGGCCCTGCAGGACCGCGGCTGCGGAGACCGTTCCCGCCACCCGCCTGGGCTCCAGGGCCAGACGGGCTGAGGTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTT... | TCACCGGGTCCGAGCCCAGCCGCTGACCCCGGGGGAAGCGCCTTGCTCAGCGCCGGGCGGCCCACGAGGCCCTGCAGGACCGCGGCTGCGGAGACCGTTCCCGCCACCCGCCTGGGCTCCAGGGCCAGACGGGCTGAGGTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTT... |
Task1_train_934 | The following genetic variant occurs in BSND (barttin CLCNK type accessory subunit beta) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Bartter disease type 4A | CTGACCCCGGGGGAAGCGCCTTGCTCAGCGCCGGGCGGCCCACGAGGCCCTGCAGGACCGCGGCTGCGGAGACCGTTCCCGCCACCCGCCTGGGCTCCAGGGCCAGACGGGCTGAGGTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGT... | CTGACCCCGGGGGAAGCGCCTTGCTCAGCGCCGGGCGGCCCACGAGGCCCTGCAGGACCGCGGCTGCGGAGACCGTTCCCGCCACCCGCCTGGGCTCCAGGGCCAGACGGGCTGAGGTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGT... |
Task1_train_935 | Located on Chromosome 1, this mutation impacts BSND (barttin CLCNK type accessory subunit beta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Bartter syndrome | CCCGGGGGAAGCGCCTTGCTCAGCGCCGGGCGGCCCACGAGGCCCTGCAGGACCGCGGCTGCGGAGACCGTTCCCGCCACCCGCCTGGGCTCCAGGGCCAGACGGGCTGAGGTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCT... | CCCGGGGGAAGCGCCTTGCTCAGCGCCGGGCGGCCCACGAGGCCCTGCAGGACCGCGGCTGCGGAGACCGTTCCCGCCACCCGCCTGGGCTCCAGGGCCAGACGGGCTGAGGTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCT... |
Task1_train_936 | A genetic alteration is present in BSND (barttin CLCNK type accessory subunit beta) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hearing loss, autosomal recessive | GTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTC... | GTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTC... |
Task1_train_937 | This gene mutation involves BSND (barttin CLCNK type accessory subunit beta) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Bartter disease type 4A | GTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTC... | GTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTC... |
Task1_train_938 | A variant was discovered in gene BSND (barttin CLCNK type accessory subunit beta), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bartter syndrome type 4 | GTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTC... | GTCCCTCTGGGCCTCCGTCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTC... |
Task1_train_939 | Mutation context: Chromosome 1, Gene PCSK9 (proprotein convertase subtilisin/kexin type 9). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not specified | AAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGG... | AAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGG... |
Task1_train_940 | A variant was discovered on Chromosome 1, affecting PCSK9 (proprotein convertase subtilisin/kexin type 9). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cardiovascular phenotype | AAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGG... | AAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGG... |
Task1_train_941 | Chromosome 1 houses a mutation in gene PCSK9 (proprotein convertase subtilisin/kexin type 9). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hypercholesterolemia, familial, 1 | ACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTT... | ACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTT... |
Task1_train_942 | This genomic variant is located on Chromosome 1, within the PCSK9 (proprotein convertase subtilisin/kexin type 9) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hypercholesterolemia, familial, 1 | TCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATAAGGAGCACATGTCCACAGTTCTTTTTCTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAGTCTCAGCTCACTGCAACATCTGTCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGATTACAGGTACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGC... | TCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATAAGGAGCACATGTCCACAGTTCTTTTTCTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAGTCTCAGCTCACTGCAACATCTGTCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGATTACAGGTACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGC... |
Task1_train_943 | A variant was discovered on Chromosome 1, affecting PCSK9 (proprotein convertase subtilisin/kexin type 9). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | ACCAGAGGTGGAAGATAAGGAGCACATGTCCACAGTTCTTTTTCTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAGTCTCAGCTCACTGCAACATCTGTCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGATTACAGGTACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTAGTCGCAAACTCCTGACCTCCTCAGTGGATCCGAGGAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGC... | ACCAGAGGTGGAAGATAAGGAGCACATGTCCACAGTTCTTTTTCTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAGTCTCAGCTCACTGCAACATCTGTCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGATTACAGGTACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTAGTCGCAAACTCCTGACCTCCTCAGTGGATCCGAGGAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGC... |
Task1_train_944 | A variant affecting Chromosome 1, within the gene PCSK9 (proprotein convertase subtilisin/kexin type 9), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypercholesterolemia, autosomal dominant, 3 | TGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAGTCTCAGCTCACTGCAACATCTGTCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGATTACAGGTACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTAGTCGCAAACTCCTGACCTCCTCAGTGGATCCGAGGAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTCGAATTACAGGTGTGAGCCACCACGCCTGGCCTCCACAGTTCTTTATCCACCGTCTG... | TGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAGTCTCAGCTCACTGCAACATCTGTCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGATTACAGGTACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCACGTTGGCCAGGCTAGTCGCAAACTCCTGACCTCCTCAGTGGATCCGAGGAGGTGATCCTCCCGCCTCAGCCTCCCAAAGTGCTCGAATTACAGGTGTGAGCCACCACGCCTGGCCTCCACAGTTCTTTATCCACCGTCTG... |
Task1_train_945 | Here is a genetic alteration in PCSK9 (proprotein convertase subtilisin/kexin type 9) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hypercholesterolemia, autosomal dominant, 3 | TAGGGTGGCGAGCACTGTTTGGTCTCCAGATGTCTTCAGGTCGGAGCTCACAGCGCTCTCAGCCACCCCTTCCCAGTGTAGCACCGGGCACATGGTAGATGCCTATTGATGAGTGAAAGCTCCTAACACACTCAGAGAGCAAGGACTCCGCCTCATCCCACAGCCTGGGAGGAGAGGCAGACTGCCAAGGACCTGCTCAGCATGCTACAGAAGAAACCAAAGTGCCCACGGGACTGATCAGTGGAGCTTCCTGCCGAGACTGGAGGCCTTAGGGCAGGGTAGACAGTGTGTGTGCAGGCTGGGGACTCACAGTTCGGACT... | TAGGGTGGCGAGCACTGTTTGGTCTCCAGATGTCTTCAGGTCGGAGCTCACAGCGCTCTCAGCCACCCCTTCCCAGTGTAGCACCGGGCACATGGTAGATGCCTATTGATGAGTGAAAGCTCCTAACACACTCAGAGAGCAAGGACTCCGCCTCATCCCACAGCCTGGGAGGAGAGGCAGACTGCCAAGGACCTGCTCAGCATGCTACAGAAGAAACCAAAGTGCCCACGGGACTGATCAGTGGAGCTTCCTGCCGAGACTGGAGGCCTTAGGGCAGGGTAGACAGTGTGTGTGCAGGCTGGGGACTCACAGTTCGGACT... |
Task1_train_946 | A mutation found in PCSK9 (proprotein convertase subtilisin/kexin type 9) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cardiovascular phenotype | ATAAGGTTATTGTGAGGATCCCCTGAGTTCGTATATTCAGACGCTTAGACAGAGCCAGGCACAGAGAAGGGCCCGGGGTTGGCTAGTTTGATTGCTGGTGTAATTGCTAATATCTTCCAGTTTGTATTGGTCAAGGTTCTGCAGAGAAGCAGAACCAGTAGGATGTATATATTAAGAGTTTCAAGCTCATGTGACCGTGCGGGCTGGCAAGTCTGAAATCCGCAGGGCAGGCCAGGCAGGCTGGCAATTCCTGCAGAATTTGATGTTGCAATACTGAGTCCTAAGGCAGTCCTGGGGCAGAATTCCTTCTTCCCTGGGAG... | ATAAGGTTATTGTGAGGATCCCCTGAGTTCGTATATTCAGACGCTTAGACAGAGCCAGGCACAGAGAAGGGCCCGGGGTTGGCTAGTTTGATTGCTGGTGTAATTGCTAATATCTTCCAGTTTGTATTGGTCAAGGTTCTGCAGAGAAGCAGAACCAGTAGGATGTATATATTAAGAGTTTCAAGCTCATGTGACCGTGCGGGCTGGCAAGTCTGAAATCCGCAGGGCAGGCCAGGCAGGCTGGCAATTCCTGCAGAATTTGATGTTGCAATACTGAGTCCTAAGGCAGTCCTGGGGCAGAATTCCTTCTTCCCTGGGAG... |
Task1_train_947 | A variant on Chromosome 1 in gene PCSK9 (proprotein convertase subtilisin/kexin type 9) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypercholesterolemia, autosomal dominant, 3 | ATAAGGTTATTGTGAGGATCCCCTGAGTTCGTATATTCAGACGCTTAGACAGAGCCAGGCACAGAGAAGGGCCCGGGGTTGGCTAGTTTGATTGCTGGTGTAATTGCTAATATCTTCCAGTTTGTATTGGTCAAGGTTCTGCAGAGAAGCAGAACCAGTAGGATGTATATATTAAGAGTTTCAAGCTCATGTGACCGTGCGGGCTGGCAAGTCTGAAATCCGCAGGGCAGGCCAGGCAGGCTGGCAATTCCTGCAGAATTTGATGTTGCAATACTGAGTCCTAAGGCAGTCCTGGGGCAGAATTCCTTCTTCCCTGGGAG... | ATAAGGTTATTGTGAGGATCCCCTGAGTTCGTATATTCAGACGCTTAGACAGAGCCAGGCACAGAGAAGGGCCCGGGGTTGGCTAGTTTGATTGCTGGTGTAATTGCTAATATCTTCCAGTTTGTATTGGTCAAGGTTCTGCAGAGAAGCAGAACCAGTAGGATGTATATATTAAGAGTTTCAAGCTCATGTGACCGTGCGGGCTGGCAAGTCTGAAATCCGCAGGGCAGGCCAGGCAGGCTGGCAATTCCTGCAGAATTTGATGTTGCAATACTGAGTCCTAAGGCAGTCCTGGGGCAGAATTCCTTCTTCCCTGGGAG... |
Task1_train_948 | A variant on Chromosome 1 in gene PCSK9 (proprotein convertase subtilisin/kexin type 9) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypercholesterolemia, familial, 1 | ATAAGGTTATTGTGAGGATCCCCTGAGTTCGTATATTCAGACGCTTAGACAGAGCCAGGCACAGAGAAGGGCCCGGGGTTGGCTAGTTTGATTGCTGGTGTAATTGCTAATATCTTCCAGTTTGTATTGGTCAAGGTTCTGCAGAGAAGCAGAACCAGTAGGATGTATATATTAAGAGTTTCAAGCTCATGTGACCGTGCGGGCTGGCAAGTCTGAAATCCGCAGGGCAGGCCAGGCAGGCTGGCAATTCCTGCAGAATTTGATGTTGCAATACTGAGTCCTAAGGCAGTCCTGGGGCAGAATTCCTTCTTCCCTGGGAG... | ATAAGGTTATTGTGAGGATCCCCTGAGTTCGTATATTCAGACGCTTAGACAGAGCCAGGCACAGAGAAGGGCCCGGGGTTGGCTAGTTTGATTGCTGGTGTAATTGCTAATATCTTCCAGTTTGTATTGGTCAAGGTTCTGCAGAGAAGCAGAACCAGTAGGATGTATATATTAAGAGTTTCAAGCTCATGTGACCGTGCGGGCTGGCAAGTCTGAAATCCGCAGGGCAGGCCAGGCAGGCTGGCAATTCCTGCAGAATTTGATGTTGCAATACTGAGTCCTAAGGCAGTCCTGGGGCAGAATTCCTTCTTCCCTGGGAG... |
Task1_train_949 | Here’s a variant in PCSK9 (proprotein convertase subtilisin/kexin type 9) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hypercholesterolemia, familial, 1 | CCAGGCACAGAGAAGGGCCCGGGGTTGGCTAGTTTGATTGCTGGTGTAATTGCTAATATCTTCCAGTTTGTATTGGTCAAGGTTCTGCAGAGAAGCAGAACCAGTAGGATGTATATATTAAGAGTTTCAAGCTCATGTGACCGTGCGGGCTGGCAAGTCTGAAATCCGCAGGGCAGGCCAGGCAGGCTGGCAATTCCTGCAGAATTTGATGTTGCAATACTGAGTCCTAAGGCAGTCCTGGGGCAGAATTCCTTCTTCCCTGGGAGGCCTCAGTCTGTTCTCTTAAGGCCTTCAACTGATTAAATGAGGCCTGCCCAAGT... | CCAGGCACAGAGAAGGGCCCGGGGTTGGCTAGTTTGATTGCTGGTGTAATTGCTAATATCTTCCAGTTTGTATTGGTCAAGGTTCTGCAGAGAAGCAGAACCAGTAGGATGTATATATTAAGAGTTTCAAGCTCATGTGACCGTGCGGGCTGGCAAGTCTGAAATCCGCAGGGCAGGCCAGGCAGGCTGGCAATTCCTGCAGAATTTGATGTTGCAATACTGAGTCCTAAGGCAGTCCTGGGGCAGAATTCCTTCTTCCCTGGGAGGCCTCAGTCTGTTCTCTTAAGGCCTTCAACTGATTAAATGAGGCCTGCCCAAGT... |
Task1_train_950 | This is a variant in PCSK9 (proprotein convertase subtilisin/kexin type 9), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Hypercholesterolemia, familial, 1 | GTCTTCTGGTACCCGCCCCCTCCCCATCTCCATCCCCAGGCCCTGCGTCCTCTGCCCAATACTCTTTGGGCCTCCCTGTTGTCCAGCTCTCTCCGCGGCTCCATGACTGACAACTTGAGCAAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGA... | GTCTTCTGGTACCCGCCCCCTCCCCATCTCCATCCCCAGGCCCTGCGTCCTCTGCCCAATACTCTTTGGGCCTCCCTGTTGTCCAGCTCTCTCCGCGGCTCCATGACTGACAACTTGAGCAAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGA... |
Task1_train_951 | Gene PCSK9 (proprotein convertase subtilisin/kexin type 9) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | TACCCGCCCCCTCCCCATCTCCATCCCCAGGCCCTGCGTCCTCTGCCCAATACTCTTTGGGCCTCCCTGTTGTCCAGCTCTCTCCGCGGCTCCATGACTGACAACTTGAGCAAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTT... | TACCCGCCCCCTCCCCATCTCCATCCCCAGGCCCTGCGTCCTCTGCCCAATACTCTTTGGGCCTCCCTGTTGTCCAGCTCTCTCCGCGGCTCCATGACTGACAACTTGAGCAAGGCTAATGTGAATGGGAGCGGTTGAGGGCTCAGACCTCTCACCCGAGGAACATCCACAGAGTGTGCCGCATGCCCGGTGCAGTGTGGCTGCGGGGACACAGACACGGAGCCTCGGCCCTGAGGAGCTGGGGGGCAGTGACCGTCCCTCCTCTGACCCACCACTCCTCCAGTGTCAGGACACTGCGGGTATCTAGGGGAAGGAATCTT... |
Task1_train_952 | Here is a genetic alteration in PCSK9 (proprotein convertase subtilisin/kexin type 9) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hypercholesterolemia, familial, 1 | GCCACAGGGAGGCCAGCATCCACGCTTCCTGCTGCCATGCCCCAGGTCTGGAATGCAAAGTCAAGGAGCATGGAATCCCGGCCCCTCAGGAGCAGGTGAAGAGGCCCGTGAGGCCGGGTGGGTGGGGTGCTGCGTGTCTCTCCTGCACAGCTTTTCTGTGTCAGTTTGTGCCACCACCATACCGCCATGCATCAGGGTGGCGGTTTGCCAGGTAGATGCTGTGGGCAGCTTCCGCCATTGTGTGGACAGCATGTATATGTGTCTCTGTGTGGCTGGGTCTGTTTTTGCTTTTGTCCAGATCAGTAAGGTTTGCTACCTGG... | GCCACAGGGAGGCCAGCATCCACGCTTCCTGCTGCCATGCCCCAGGTCTGGAATGCAAAGTCAAGGAGCATGGAATCCCGGCCCCTCAGGAGCAGGTGAAGAGGCCCGTGAGGCCGGGTGGGTGGGGTGCTGCGTGTCTCTCCTGCACAGCTTTTCTGTGTCAGTTTGTGCCACCACCATACCGCCATGCATCAGGGTGGCGGTTTGCCAGGTAGATGCTGTGGGCAGCTTCCGCCATTGTGTGGACAGCATGTATATGTGTCTCTGTGTGGCTGGGTCTGTTTTTGCTTTTGTCCAGATCAGTAAGGTTTGCTACCTGG... |
Task1_train_953 | Chromosome 1 houses a mutation in gene TACSTD2 (tumor associated calcium signal transducer 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Gelatinous droplike corneal dystrophy | TAGGTAAAACATATCTTTAAAGCACATTAATAGTAAAAATCCCTGGGTGCAGTGGCTCACACCTATGATACCAGCACTTTGGGAGGCCGACGCAGGTGGATCACCTGAGGGCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATGCAAAAATTAGTTGGGCATAGTGGTGGGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGCTCACTCCACTGCCCTGCAGCCTGGACAACAGAGCAAGACTCCATC... | TAGGTAAAACATATCTTTAAAGCACATTAATAGTAAAAATCCCTGGGTGCAGTGGCTCACACCTATGATACCAGCACTTTGGGAGGCCGACGCAGGTGGATCACCTGAGGGCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAATGCAAAAATTAGTTGGGCATAGTGGTGGGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGCTCACTCCACTGCCCTGCAGCCTGGACAACAGAGCAAGACTCCATC... |
Task1_train_954 | Consider this mutation in TACSTD2 (tumor associated calcium signal transducer 2) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Gelatinous droplike corneal dystrophy | ATCCCAGTTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGCTCACTCCACTGCCCTGCAGCCTGGACAACAGAGCAAGACTCCATCTCAAAAAATATATGTAATAAGTAAAAGTCTTAGGAAAACAGCCTGTGCACACCCAGCAAAAGTGTAGGGCCCACTGCAGACTGGCTCTAATTATGTGGGAAAGTCGTTTAATCTTAGAGCCACAACGCTTTGAGATTAAGTGATTTGCTCAAAGGCTAAATGGAAATAGTACCACTTATTTCAAAGTAGGGCTGGGATTCAA... | ATCCCAGTTACTCAGGAGGCTGAGGTAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGCTCACTCCACTGCCCTGCAGCCTGGACAACAGAGCAAGACTCCATCTCAAAAAATATATGTAATAAGTAAAAGTCTTAGGAAAACAGCCTGTGCACACCCAGCAAAAGTGTAGGGCCCACTGCAGACTGGCTCTAATTATGTGGGAAAGTCGTTTAATCTTAGAGCCACAACGCTTTGAGATTAAGTGATTTGCTCAAAGGCTAAATGGAAATAGTACCACTTATTTCAAAGTAGGGCTGGGATTCAA... |
Task1_train_955 | A variant found in Chromosome 1 affects TACSTD2 (tumor associated calcium signal transducer 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Gelatinous droplike corneal dystrophy | CTCCATTGGTGATAAGCCTTGTTTAGAGATGACCAAAGACTGGCACTCTTTTTCATAAAAGCAGCTAGTTTTAGCTTCCTCCCTCAAGCTCACCCTCCTGCAGTTTGAAGGAAGTTTCCAAATAATCTTATTTAGAAAGAATAGCATTTACACTGGCCAGTTAGGATATCTTAGGACACACCAGAGTAGCAACATGAAACACCCACTTCTGGGGGAAAAAAAAGTGTTATAATTTGAAATAAAAAAAAAATACAAGTCTTGGGAAATTAGAGACCAATGTGATAGAAATCTGGAGGGACTTTTCACAAATGCCGACTTCT... | CTCCATTGGTGATAAGCCTTGTTTAGAGATGACCAAAGACTGGCACTCTTTTTCATAAAAGCAGCTAGTTTTAGCTTCCTCCCTCAAGCTCACCCTCCTGCAGTTTGAAGGAAGTTTCCAAATAATCTTATTTAGAAAGAATAGCATTTACACTGGCCAGTTAGGATATCTTAGGACACACCAGAGTAGCAACATGAAACACCCACTTCTGGGGGAAAAAAAAGTGTTATAATTTGAAATAAAAAAAAAATACAAGTCTTGGGAAATTAGAGACCAATGTGATAGAAATCTGGAGGGACTTTTCACAAATGCCGACTTCT... |
Task1_train_956 | A mutation found in MYSM1 (Myb like, SWIRM and MPN domains 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Bone marrow failure syndrome 4 | AAGAGAGATACAAATTGAGTTAGTCATTGTTAACCCTAAACCGGGAGGTGACAGAGAGCTGGTGGTCATTTTTTTTTTCATTTGCATGCCATCACAGAGAAAGCCAGTCTGCATTTATAAAAAAATTTTCATGAGAACAGAGACTGTTTTGTTTACTGCAACATCTCCAGTGCCTAGCATACACACTGCCTGGCCATAACTTTTCTCCATATTTCAATCCTTTTGCCCAGTGGCCATGGTAACAAAAGTGGGGACTTGAATATAGCAGGAGATTAAGAAACGGAAGAGGGTGGCTGCACTAGGGTGGCACCCAAATAATG... | AAGAGAGATACAAATTGAGTTAGTCATTGTTAACCCTAAACCGGGAGGTGACAGAGAGCTGGTGGTCATTTTTTTTTTCATTTGCATGCCATCACAGAGAAAGCCAGTCTGCATTTATAAAAAAATTTTCATGAGAACAGAGACTGTTTTGTTTACTGCAACATCTCCAGTGCCTAGCATACACACTGCCTGGCCATAACTTTTCTCCATATTTCAATCCTTTTGCCCAGTGGCCATGGTAACAAAAGTGGGGACTTGAATATAGCAGGAGATTAAGAAACGGAAGAGGGTGGCTGCACTAGGGTGGCACCCAAATAATG... |
Task1_train_957 | The gene NFIA (nuclear factor I A) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AGATTTCCAAGGATGTTCAGGAGGGAGGGTGGGAGAGAGAATGGTTCTTGAGCATTCGGGAATTATTTTGGCAATAAAGTAACTAAAGTACAAGCATAAAATAACTTTAGACAGATGCAGAATTATTTCAGAGGTTCTCTTTTGCTCTTTCTCCAGTACAGTATTTCCTGCCCCTTGCTTTGAAAAGAAGTCTGAATGAGAGTGGCCTTAACACATCACTCACCCTCACTTGTTAACACATCACTTACCCTCACTTTCCTACAGGAATGTCCCCTCTTTAGAGACTCTCTGGTTATGTCACCTCCACCGAAGGGCAGATT... | AGATTTCCAAGGATGTTCAGGAGGGAGGGTGGGAGAGAGAATGGTTCTTGAGCATTCGGGAATTATTTTGGCAATAAAGTAACTAAAGTACAAGCATAAAATAACTTTAGACAGATGCAGAATTATTTCAGAGGTTCTCTTTTGCTCTTTCTCCAGTACAGTATTTCCTGCCCCTTGCTTTGAAAAGAAGTCTGAATGAGAGTGGCCTTAACACATCACTCACCCTCACTTGTTAACACATCACTTACCCTCACTTTCCTACAGGAATGTCCCCTCTTTAGAGACTCTCTGGTTATGTCACCTCCACCGAAGGGCAGATT... |
Task1_train_958 | A variant affecting Chromosome 1, within the gene ANGPTL3, DOCK7 (angiopoietin like 3| dedicator of cytokinesis 7), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial hypobetalipoproteinemia 2 | AATTAAAAAAACAAAACTCTAAAAATTTAAGTAACTTTAAGATCACATAGTTACTTAGTAGAAAAGAGTAATACCCAGCAAGCAAACTTTACAATAGATCCTTTTAAATAAGGTCCTAGGAAATATCATTCATGCCAGCATCAAAAAACTAACACTAATAATGCAAGATATTATATATTCTGCTTTTCTTACTGTCAATGAGAAAAACTATCATTCAATAAATTGCAAACCCAACACACTTAAATAAAAATAAAATGTTACTGCTAAACTAACGATAAACTACTGAATATATAGAAAGTAAGCAAACAAACTTGCCAACC... | AATTAAAAAAACAAAACTCTAAAAATTTAAGTAACTTTAAGATCACATAGTTACTTAGTAGAAAAGAGTAATACCCAGCAAGCAAACTTTACAATAGATCCTTTTAAATAAGGTCCTAGGAAATATCATTCATGCCAGCATCAAAAAACTAACACTAATAATGCAAGATATTATATATTCTGCTTTTCTTACTGTCAATGAGAAAAACTATCATTCAATAAATTGCAAACCCAACACACTTAAATAAAAATAAAATGTTACTGCTAAACTAACGATAAACTACTGAATATATAGAAAGTAAGCAAACAAACTTGCCAACC... |
Task1_train_959 | The variant affects gene ALG6 (ALG6 alpha-1,3-glucosyltransferase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; ALG6-congenital disorder of glycosylation 1C | TGATTACTTTTAGGATTATAAGCCAGAAAAAACATTTTCTTTTTCTTAGTTTTGTAATTTTTTTCAGTTTGGTATGTTTTAAAAGAAGCCATTGTGTTAAAACTTTTTAAATGTAAGATTTTTGTTATTTTGTTTTTGTTAATCATGCTTTGAATTCTTATTGTATACTTCTGAGAGTTTTAAGAACATTTCCCATTATAATTGTTTTAAAAGTATTTTCCTTTCAATCATGTTTGCCTGAATTATATCTCAATATAAATCTATAATTGAGGTAACTGATAGCATGAATACTGGTGCATGTATAGCAGCAAAAGGATTTA... | TGATTACTTTTAGGATTATAAGCCAGAAAAAACATTTTCTTTTTCTTAGTTTTGTAATTTTTTTCAGTTTGGTATGTTTTAAAAGAAGCCATTGTGTTAAAACTTTTTAAATGTAAGATTTTTGTTATTTTGTTTTTGTTAATCATGCTTTGAATTCTTATTGTATACTTCTGAGAGTTTTAAGAACATTTCCCATTATAATTGTTTTAAAAGTATTTTCCTTTCAATCATGTTTGCCTGAATTATATCTCAATATAAATCTATAATTGAGGTAACTGATAGCATGAATACTGGTGCATGTATAGCAGCAAAAGGATTTA... |
Task1_train_960 | A variant found in Chromosome 1 affects ALG6 (ALG6 alpha-1,3-glucosyltransferase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; ALG6-related disorder | TGATTACTTTTAGGATTATAAGCCAGAAAAAACATTTTCTTTTTCTTAGTTTTGTAATTTTTTTCAGTTTGGTATGTTTTAAAAGAAGCCATTGTGTTAAAACTTTTTAAATGTAAGATTTTTGTTATTTTGTTTTTGTTAATCATGCTTTGAATTCTTATTGTATACTTCTGAGAGTTTTAAGAACATTTCCCATTATAATTGTTTTAAAAGTATTTTCCTTTCAATCATGTTTGCCTGAATTATATCTCAATATAAATCTATAATTGAGGTAACTGATAGCATGAATACTGGTGCATGTATAGCAGCAAAAGGATTTA... | TGATTACTTTTAGGATTATAAGCCAGAAAAAACATTTTCTTTTTCTTAGTTTTGTAATTTTTTTCAGTTTGGTATGTTTTAAAAGAAGCCATTGTGTTAAAACTTTTTAAATGTAAGATTTTTGTTATTTTGTTTTTGTTAATCATGCTTTGAATTCTTATTGTATACTTCTGAGAGTTTTAAGAACATTTCCCATTATAATTGTTTTAAAAGTATTTTCCTTTCAATCATGTTTGCCTGAATTATATCTCAATATAAATCTATAATTGAGGTAACTGATAGCATGAATACTGGTGCATGTATAGCAGCAAAAGGATTTA... |
Task1_train_961 | This genomic variant is located on Chromosome 1, within the ALG6 (ALG6 alpha-1,3-glucosyltransferase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; ALG6-congenital disorder of glycosylation 1C | GAGGAACCAGCAAAGATGTCTAAGAATTAACTGGGTGAGATAGGAGAACCAGAAGAGTATGATGTCATGGAAGCCAAGTGAACGAAGTGTTTCAGTGAGAGGAGAGTGATTTCAAATGCTAATGAGAGAATCAAGTAAGGCAGTAAGAACTGACCATGGGATTTACTACACTGGAGGTCATTATGGATGTTTGACTATAGCAGTTTCATCGTGATTAGGGTGAAAGCCCAATTGGTATGGGTTCACTAGTGAATGGGATGAAGACTGGACACAGCATGTTTATAGGCAACTGTTTTGGGAAACAAGTGTAAATAGGAGCA... | GAGGAACCAGCAAAGATGTCTAAGAATTAACTGGGTGAGATAGGAGAACCAGAAGAGTATGATGTCATGGAAGCCAAGTGAACGAAGTGTTTCAGTGAGAGGAGAGTGATTTCAAATGCTAATGAGAGAATCAAGTAAGGCAGTAAGAACTGACCATGGGATTTACTACACTGGAGGTCATTATGGATGTTTGACTATAGCAGTTTCATCGTGATTAGGGTGAAAGCCCAATTGGTATGGGTTCACTAGTGAATGGGATGAAGACTGGACACAGCATGTTTATAGGCAACTGTTTTGGGAAACAAGTGTAAATAGGAGCA... |
Task1_train_962 | Gene LOC129930668, PGM1 (ATAC-STARR-seq lymphoblastoid active region 1127| phosphoglucomutase 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; PGM1-congenital disorder of glycosylation | ATTTATTGATGACTTACTTATTAGCACTGTGGTAGGAGCTGTATATTCTCTATCTAAACCATACAACTCTAAGGTAGGTATTTTGAAGGCTCAGTGAATCTATGCTATATTTTCATTTTGTGGAGTTAGATAACCTTGATTACATTCACCATCCAATCCTCAATTCTCTCGTCTATAAAATGGGCTTGATTATATTATTTAATTCACAAGATTACACTGCTCTGTAAACTCCTGTGCAAATATTAGAACTCATTACTAGCAGTCCAGGGTTCCGTTTTCACATAATATTTGCCACCGAAACTCATCTATAGTGACTACAT... | ATTTATTGATGACTTACTTATTAGCACTGTGGTAGGAGCTGTATATTCTCTATCTAAACCATACAACTCTAAGGTAGGTATTTTGAAGGCTCAGTGAATCTATGCTATATTTTCATTTTGTGGAGTTAGATAACCTTGATTACATTCACCATCCAATCCTCAATTCTCTCGTCTATAAAATGGGCTTGATTATATTATTTAATTCACAAGATTACACTGCTCTGTAAACTCCTGTGCAAATATTAGAACTCATTACTAGCAGTCCAGGGTTCCGTTTTCACATAATATTTGCCACCGAAACTCATCTATAGTGACTACAT... |
Task1_train_963 | Given this variant in gene PGM1 (phosphoglucomutase 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; PGM1-congenital disorder of glycosylation | CCTGTATCAGATCGAGAGCAATATTCCTGAGGGTGATTCCCAAGAAAGAGCCTGATCTGGAAGGGGAGTTCTTCCACCAGATGTACCTCTTCTTGGGCTCAAGAGAGAAGCTACCTTGCTTCTATCTCTCAACTTTCCTTCTTACTCTTACCCCTGGCATAATCCCCTCAGCCTGGAACCATTGCAAATCTCACCATAAGGAATGGTAGAATTAAGGGGTGACATGGGTGGTGTAGCTTAATATCACCAGCCTCTCCTTCCACACCAAATACAATCTATATAAAAATTGGTATGCTTGGTGTGTAAATACAACTCGACAA... | CCTGTATCAGATCGAGAGCAATATTCCTGAGGGTGATTCCCAAGAAAGAGCCTGATCTGGAAGGGGAGTTCTTCCACCAGATGTACCTCTTCTTGGGCTCAAGAGAGAAGCTACCTTGCTTCTATCTCTCAACTTTCCTTCTTACTCTTACCCCTGGCATAATCCCCTCAGCCTGGAACCATTGCAAATCTCACCATAAGGAATGGTAGAATTAAGGGGTGACATGGGTGGTGTAGCTTAATATCACCAGCCTCTCCTTCCACACCAAATACAATCTATATAAAAATTGGTATGCTTGGTGTGTAAATACAACTCGACAA... |
Task1_train_964 | A mutation on Chromosome 1 affecting PGM1 (phosphoglucomutase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; PGM1-congenital disorder of glycosylation | CAATATTCCTGAGGGTGATTCCCAAGAAAGAGCCTGATCTGGAAGGGGAGTTCTTCCACCAGATGTACCTCTTCTTGGGCTCAAGAGAGAAGCTACCTTGCTTCTATCTCTCAACTTTCCTTCTTACTCTTACCCCTGGCATAATCCCCTCAGCCTGGAACCATTGCAAATCTCACCATAAGGAATGGTAGAATTAAGGGGTGACATGGGTGGTGTAGCTTAATATCACCAGCCTCTCCTTCCACACCAAATACAATCTATATAAAAATTGGTATGCTTGGTGTGTAAATACAACTCGACAAGCCACCCCTAAACCCCTC... | CAATATTCCTGAGGGTGATTCCCAAGAAAGAGCCTGATCTGGAAGGGGAGTTCTTCCACCAGATGTACCTCTTCTTGGGCTCAAGAGAGAAGCTACCTTGCTTCTATCTCTCAACTTTCCTTCTTACTCTTACCCCTGGCATAATCCCCTCAGCCTGGAACCATTGCAAATCTCACCATAAGGAATGGTAGAATTAAGGGGTGACATGGGTGGTGTAGCTTAATATCACCAGCCTCTCCTTCCACACCAAATACAATCTATATAAAAATTGGTATGCTTGGTGTGTAAATACAACTCGACAAGCCACCCCTAAACCCCTC... |
Task1_train_965 | A variant was discovered in gene PGM1 (phosphoglucomutase 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; PGM1-congenital disorder of glycosylation | TGGTGGCACATGCCTGTAATCGCAGCTACTCAGGAGGCTGAGGCAGGAGACTAGCTTGAATCCGGAAGGCGGAAGTTGTAGTGAGCGGAGATCACACCACTGCCCCCCAGCCTGGGCGACAAAGCAAGACTCCGTCTCAAAAAAACAAAAAATCCCTAAAAAACTAACTCCTGCCAGGCCAACAAAATGAGAGTTGGAATTTCAAGTATTCTCTTTGGGGTTGGAAGAAGGCATAATTTGACTAGGTATAAAGAAAGGTTTCCTGGAAGAAGTGGCATCCAACTCAGTTCTTATGAAAGAAAGATCTAGAGTGATGAAAA... | TGGTGGCACATGCCTGTAATCGCAGCTACTCAGGAGGCTGAGGCAGGAGACTAGCTTGAATCCGGAAGGCGGAAGTTGTAGTGAGCGGAGATCACACCACTGCCCCCCAGCCTGGGCGACAAAGCAAGACTCCGTCTCAAAAAAACAAAAAATCCCTAAAAAACTAACTCCTGCCAGGCCAACAAAATGAGAGTTGGAATTTCAAGTATTCTCTTTGGGGTTGGAAGAAGGCATAATTTGACTAGGTATAAAGAAAGGTTTCCTGGAAGAAGTGGCATCCAACTCAGTTCTTATGAAAGAAAGATCTAGAGTGATGAAAA... |
Task1_train_966 | An alteration has been detected in PGM1 (phosphoglucomutase 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; PGM1-congenital disorder of glycosylation | CGCAGCACATGAGTGGCACCCCACCTAACACAGCAGTACCTGGCAAGACGCCACAGTTTAGGACCTGGAGCATCTCTAGATGTGGACAGAATTGTTAGTGCTTCCCTTACTGTGTGCCGGGTACCCTAGGCTGCAGGCTGGGTCAGGCTTTCTCCTGGCTTCTCATGAACACTTACGCACCAGGGTTCTCTCACCTCTGCTTCTGTTGCCTGTTGTCACAGAGTAAACTCATCTCTCACAATTCATAATAGAATAAAGAGCAGGATGAAGATTCTGTTACAACCTCCCAGTTTACTTTTTTCCAATTGACCCAGATTTTT... | CGCAGCACATGAGTGGCACCCCACCTAACACAGCAGTACCTGGCAAGACGCCACAGTTTAGGACCTGGAGCATCTCTAGATGTGGACAGAATTGTTAGTGCTTCCCTTACTGTGTGCCGGGTACCCTAGGCTGCAGGCTGGGTCAGGCTTTCTCCTGGCTTCTCATGAACACTTACGCACCAGGGTTCTCTCACCTCTGCTTCTGTTGCCTGTTGTCACAGAGTAAACTCATCTCTCACAATTCATAATAGAATAAAGAGCAGGATGAAGATTCTGTTACAACCTCCCAGTTTACTTTTTTCCAATTGACCCAGATTTTT... |
Task1_train_967 | Here’s a variant in PGM1 (phosphoglucomutase 1) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Congenital disorder of glycosylation | CGCAGCACATGAGTGGCACCCCACCTAACACAGCAGTACCTGGCAAGACGCCACAGTTTAGGACCTGGAGCATCTCTAGATGTGGACAGAATTGTTAGTGCTTCCCTTACTGTGTGCCGGGTACCCTAGGCTGCAGGCTGGGTCAGGCTTTCTCCTGGCTTCTCATGAACACTTACGCACCAGGGTTCTCTCACCTCTGCTTCTGTTGCCTGTTGTCACAGAGTAAACTCATCTCTCACAATTCATAATAGAATAAAGAGCAGGATGAAGATTCTGTTACAACCTCCCAGTTTACTTTTTTCCAATTGACCCAGATTTTT... | CGCAGCACATGAGTGGCACCCCACCTAACACAGCAGTACCTGGCAAGACGCCACAGTTTAGGACCTGGAGCATCTCTAGATGTGGACAGAATTGTTAGTGCTTCCCTTACTGTGTGCCGGGTACCCTAGGCTGCAGGCTGGGTCAGGCTTTCTCCTGGCTTCTCATGAACACTTACGCACCAGGGTTCTCTCACCTCTGCTTCTGTTGCCTGTTGTCACAGAGTAAACTCATCTCTCACAATTCATAATAGAATAAAGAGCAGGATGAAGATTCTGTTACAACCTCCCAGTTTACTTTTTTCCAATTGACCCAGATTTTT... |
Task1_train_968 | The gene PGM1 (phosphoglucomutase 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; PGM1-congenital disorder of glycosylation | AGCACATGAGTGGCACCCCACCTAACACAGCAGTACCTGGCAAGACGCCACAGTTTAGGACCTGGAGCATCTCTAGATGTGGACAGAATTGTTAGTGCTTCCCTTACTGTGTGCCGGGTACCCTAGGCTGCAGGCTGGGTCAGGCTTTCTCCTGGCTTCTCATGAACACTTACGCACCAGGGTTCTCTCACCTCTGCTTCTGTTGCCTGTTGTCACAGAGTAAACTCATCTCTCACAATTCATAATAGAATAAAGAGCAGGATGAAGATTCTGTTACAACCTCCCAGTTTACTTTTTTCCAATTGACCCAGATTTTTGGC... | AGCACATGAGTGGCACCCCACCTAACACAGCAGTACCTGGCAAGACGCCACAGTTTAGGACCTGGAGCATCTCTAGATGTGGACAGAATTGTTAGTGCTTCCCTTACTGTGTGCCGGGTACCCTAGGCTGCAGGCTGGGTCAGGCTTTCTCCTGGCTTCTCATGAACACTTACGCACCAGGGTTCTCTCACCTCTGCTTCTGTTGCCTGTTGTCACAGAGTAAACTCATCTCTCACAATTCATAATAGAATAAAGAGCAGGATGAAGATTCTGTTACAACCTCCCAGTTTACTTTTTTCCAATTGACCCAGATTTTTGGC... |
Task1_train_969 | The gene ROR1 (receptor tyrosine kinase like orphan receptor 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hearing loss, autosomal recessive 108 | CCCACTTGCGAAGACCTAGGGATATACGTTGGTATGAAGGGCAGTGCTTCCAATAAGATTTCCCTTGAAATCTCGTTGTGAGGACAAAATACATGCATAAAAAGAACAGAAACATCAAGTTGATAATAATAACAAAAAGTTAAATAGTACTTACCATGGGCCAGACATAGGTCTGAGTGCTTTACAAACTTTAACTCATAGGTCTGAGTGCTTTACAAACATTAACTCATTAAAAGTTTGCAATAACATGGTAAGTACAATTATTATCATCCCATTTTATAGATGAAGGAATTGAGGCAAAAGTTAAATGTTGTATCTGG... | CCCACTTGCGAAGACCTAGGGATATACGTTGGTATGAAGGGCAGTGCTTCCAATAAGATTTCCCTTGAAATCTCGTTGTGAGGACAAAATACATGCATAAAAAGAACAGAAACATCAAGTTGATAATAATAACAAAAAGTTAAATAGTACTTACCATGGGCCAGACATAGGTCTGAGTGCTTTACAAACTTTAACTCATAGGTCTGAGTGCTTTACAAACATTAACTCATTAAAAGTTTGCAATAACATGGTAAGTACAATTATTATCATCCCATTTTATAGATGAAGGAATTGAGGCAAAAGTTAAATGTTGTATCTGG... |
Task1_train_970 | A variant has been detected on Chromosome 1 in JAK1 (Janus kinase 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autoinflammation, immune dysregulation, and eosinophilia | GGGCTACCTGAGTCTCAGTTACCTGATCTGTCAAATGAGGGTAATGACACCATCCTACCTAATTTGCAGGGCTCTTAGGGTGACACTTTCAGGTATTCTTTCTGGAATTCTTACCGTTGTTATTTTAGCCTAACTCCCTACCATACCCTAAGGCCCTCAAGGGAAGGCAAGGCCTGTATCTTATTTTATAGTGAACCTCCAGCTTTTCCCAAGCTTGATGCCTGATACACAATAGGAACTCCATACGTATTTGTGTGGTAATTTTGCTGAATAACAGGCACTTAAAATCTCAGATAAATAATACTATAACATCTATCGAG... | GGGCTACCTGAGTCTCAGTTACCTGATCTGTCAAATGAGGGTAATGACACCATCCTACCTAATTTGCAGGGCTCTTAGGGTGACACTTTCAGGTATTCTTTCTGGAATTCTTACCGTTGTTATTTTAGCCTAACTCCCTACCATACCCTAAGGCCCTCAAGGGAAGGCAAGGCCTGTATCTTATTTTATAGTGAACCTCCAGCTTTTCCCAAGCTTGATGCCTGATACACAATAGGAACTCCATACGTATTTGTGTGGTAATTTTGCTGAATAACAGGCACTTAAAATCTCAGATAAATAATACTATAACATCTATCGAG... |
Task1_train_971 | Given this variant in gene LOC126805749, JAK1 (BRD4-independent group 4 enhancer GRCh37_chr1:65312286-65313485| Janus kinase 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autoinflammation, immune dysregulation, and eosinophilia | GAGATCCAGAGGACCCCCTTCCACAAACTCTTCCACCATGATATCTGTAGGCATAAAAATAGCCATGTCTGGAACCTGGTCTGTGGCACGGTCCTCTCCTTCATCCCCTTACGACAGTCCACTTCAGTGGACACTACTCGGCCTCAGAGTACACAGATATCCTTGGGGGGTGCAATGGTGCAGGGGCTTCAGAGCTGGAAAGGCCAAGTTCAACCCCAAGCTCTTCTTCTAAACGGTGGCACTGAGCAAGTGACACTTCTCTGAGCCTCAATTCCCTCATCTGTAATAACAGATGGCGGCTAAATGTCACAAGGCCTGGA... | GAGATCCAGAGGACCCCCTTCCACAAACTCTTCCACCATGATATCTGTAGGCATAAAAATAGCCATGTCTGGAACCTGGTCTGTGGCACGGTCCTCTCCTTCATCCCCTTACGACAGTCCACTTCAGTGGACACTACTCGGCCTCAGAGTACACAGATATCCTTGGGGGGTGCAATGGTGCAGGGGCTTCAGAGCTGGAAAGGCCAAGTTCAACCCCAAGCTCTTCTTCTAAACGGTGGCACTGAGCAAGTGACACTTCTCTGAGCCTCAATTCCCTCATCTGTAATAACAGATGGCGGCTAAATGTCACAAGGCCTGGA... |
Task1_train_972 | This mutation occurs in DNAJC6 (DnaJ heat shock protein family (Hsp40) member C6) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Parkinson disease 19B, early-onset | GTAGCTCTGAGGAGGTTGCACACACTGTTTACTTTCTTTAATAAAATAAATGTTATTCCATGATATGGCAATATAGATTTCTTTTGTTTGCCTGTTCAAATGAGCAGTGGCACTTTCTAAGAGGTGATTTTGTTATTCAGATGGCATTCACATTCTAAAGATGAGTCATTAGAATTTGCTGGTAAGAAGAATGCATTATTTATGTTTTCTCTTTCTGCTTTGAGAGCTTTTTTATTAAACCAGATTGACTGAAGCCCCCAGGATCTTTTCTCTACCGATAGAGAAATATTTATGTACCTGAGACTTACCAATTCCTGCAA... | GTAGCTCTGAGGAGGTTGCACACACTGTTTACTTTCTTTAATAAAATAAATGTTATTCCATGATATGGCAATATAGATTTCTTTTGTTTGCCTGTTCAAATGAGCAGTGGCACTTTCTAAGAGGTGATTTTGTTATTCAGATGGCATTCACATTCTAAAGATGAGTCATTAGAATTTGCTGGTAAGAAGAATGCATTATTTATGTTTTCTCTTTCTGCTTTGAGAGCTTTTTTATTAAACCAGATTGACTGAAGCCCCCAGGATCTTTTCTCTACCGATAGAGAAATATTTATGTACCTGAGACTTACCAATTCCTGCAA... |
Task1_train_973 | This sequence variant lies in LEPR (leptin receptor) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Obesity due to leptin receptor gene deficiency | AATAATTATTGAGCACTACATGGTTTAATCTCAGATACTTTCTATTCATGTCTTAGTCAAAATGATTACTTTTTTCTATGTGTCTTTTTAATATCCTAACAGAATTTATTTATGTGATAACTGCGTTTAACTTGTCATATCCAATTACTCCTTGGAGATTTAAGTTGTCTTGCATGCCACCAAATTCAACCTATGACTACTTCCTTTTGCCTGCTGGACTCTCAAAGAATACTTCAAATTCGAATGGACATTATGAGACAGCTGTTGAACCTAAGTTTAATTCAAGTGGTACTCACTTTTCTAACTTATCCAAAACAACT... | AATAATTATTGAGCACTACATGGTTTAATCTCAGATACTTTCTATTCATGTCTTAGTCAAAATGATTACTTTTTTCTATGTGTCTTTTTAATATCCTAACAGAATTTATTTATGTGATAACTGCGTTTAACTTGTCATATCCAATTACTCCTTGGAGATTTAAGTTGTCTTGCATGCCACCAAATTCAACCTATGACTACTTCCTTTTGCCTGCTGGACTCTCAAAGAATACTTCAAATTCGAATGGACATTATGAGACAGCTGTTGAACCTAAGTTTAATTCAAGTGGTACTCACTTTTCTAACTTATCCAAAACAACT... |
Task1_train_974 | Gene SLC35D1 (solute carrier family 35 member D1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Schneckenbecken dysplasia | ACATCAAAATGAGGGGTAAAAAAACAAAAACAAAAAACTCCTCTTTCTCTTCAAAGAAAAGAGCATAAACTATAAACTAAAACCTTTGGCACCACTTTCATTATTTAGTAGTAATAGAAGCTTTCTGGTCCTTTCATTTTTTTCCAGAATCAATAACAATGTGTTAAATATTTGACATTCAAGTACAATTTTAAGAATACATTATATTAACCTCACTAGTAAAATAAAGTTATCCATACTTCAGTTTCTTTGTGCTGAACAGTCCCGTGATTTGGTTCCCAAAATATAGTAGAGGTAGTGGAAACGTCTAGAAAATTTAA... | ACATCAAAATGAGGGGTAAAAAAACAAAAACAAAAAACTCCTCTTTCTCTTCAAAGAAAAGAGCATAAACTATAAACTAAAACCTTTGGCACCACTTTCATTATTTAGTAGTAATAGAAGCTTTCTGGTCCTTTCATTTTTTTCCAGAATCAATAACAATGTGTTAAATATTTGACATTCAAGTACAATTTTAAGAATACATTATATTAACCTCACTAGTAAAATAAAGTTATCCATACTTCAGTTTCTTTGTGCTGAACAGTCCCGTGATTTGGTTCCCAAAATATAGTAGAGGTAGTGGAAACGTCTAGAAAATTTAA... |
Task1_train_975 | The following genetic variant occurs in GNG12-AS1, WLS (GNG12, DIRAS3 and WLS antisense RNA 1| Wnt ligand secretion mediator) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; WLS syndrome | TGGAAGCCCACTGCTTGACAGGCTGAATGCTCCCATTTTCCACATGTACAGTAAAAACACCGAGTGGTGTTTTTACTAGAAATGGAAAGGAAGAAGGCTGCCTAGCTCACAAGCCTTCTAGCAAAACAGTCAGTCAAACCAAAGTTGGGCAGGGGGTAGGTAAGTAAATATTCTGTATTCTCACCTCAGACCAGAGATGGGCTTGAAACTGATTGTAACATGTCTACTCCAAAGAGGTCAAGGGGTGAGGGAAACTCATGTCCAGCATGCTCTCGCATGGACATGGCAAATACAGGATGAAGACAGACAGTGGCTGAGAC... | TGGAAGCCCACTGCTTGACAGGCTGAATGCTCCCATTTTCCACATGTACAGTAAAAACACCGAGTGGTGTTTTTACTAGAAATGGAAAGGAAGAAGGCTGCCTAGCTCACAAGCCTTCTAGCAAAACAGTCAGTCAAACCAAAGTTGGGCAGGGGGTAGGTAAGTAAATATTCTGTATTCTCACCTCAGACCAGAGATGGGCTTGAAACTGATTGTAACATGTCTACTCCAAAGAGGTCAAGGGGTGAGGGAAACTCATGTCCAGCATGCTCTCGCATGGACATGGCAAATACAGGATGAAGACAGACAGTGGCTGAGAC... |
Task1_train_976 | Consider this mutation in GNG12-AS1, WLS (GNG12, DIRAS3 and WLS antisense RNA 1| Wnt ligand secretion mediator) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; WLS syndrome | ATTAGATATCATAGTCTAGCAAGCTAGGATAACAATTCCTGCCCTACTTACCTCGTAGGATTTTTGTGATGCTCAAATGAATAATAGATACATTAGATTTAAACAGTACTTCCCACCCTTCAAAACAAGTTATGAATATTTTAAAATGATTGTTATTGAGATTTTCAAGTATAGCAAAATGTTGAGTTTTGGAAATAACCAGTGAAAAGACAAGATGCTATCAAAGAGACTTTTGAATTACATTTCATATTTAAGTGGCAATATAATTATTACAAGGAATAGCTGATGGACTGTATAAGGATCTATGTTAATGCTAGATA... | ATTAGATATCATAGTCTAGCAAGCTAGGATAACAATTCCTGCCCTACTTACCTCGTAGGATTTTTGTGATGCTCAAATGAATAATAGATACATTAGATTTAAACAGTACTTCCCACCCTTCAAAACAAGTTATGAATATTTTAAAATGATTGTTATTGAGATTTTCAAGTATAGCAAAATGTTGAGTTTTGGAAATAACCAGTGAAAAGACAAGATGCTATCAAAGAGACTTTTGAATTACATTTCATATTTAAGTGGCAATATAATTATTACAAGGAATAGCTGATGGACTGTATAAGGATCTATGTTAATGCTAGATA... |
Task1_train_977 | The variant affects gene GNG12-AS1, WLS (GNG12, DIRAS3 and WLS antisense RNA 1| Wnt ligand secretion mediator), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Zaki syndrome | ATTAGATATCATAGTCTAGCAAGCTAGGATAACAATTCCTGCCCTACTTACCTCGTAGGATTTTTGTGATGCTCAAATGAATAATAGATACATTAGATTTAAACAGTACTTCCCACCCTTCAAAACAAGTTATGAATATTTTAAAATGATTGTTATTGAGATTTTCAAGTATAGCAAAATGTTGAGTTTTGGAAATAACCAGTGAAAAGACAAGATGCTATCAAAGAGACTTTTGAATTACATTTCATATTTAAGTGGCAATATAATTATTACAAGGAATAGCTGATGGACTGTATAAGGATCTATGTTAATGCTAGATA... | ATTAGATATCATAGTCTAGCAAGCTAGGATAACAATTCCTGCCCTACTTACCTCGTAGGATTTTTGTGATGCTCAAATGAATAATAGATACATTAGATTTAAACAGTACTTCCCACCCTTCAAAACAAGTTATGAATATTTTAAAATGATTGTTATTGAGATTTTCAAGTATAGCAAAATGTTGAGTTTTGGAAATAACCAGTGAAAAGACAAGATGCTATCAAAGAGACTTTTGAATTACATTTCATATTTAAGTGGCAATATAATTATTACAAGGAATAGCTGATGGACTGTATAAGGATCTATGTTAATGCTAGATA... |
Task1_train_978 | Given this variant in gene RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Leber congenital amaurosis 2 | TAAAAATAACTACTTATTAACAGGTTAATTTATATTAATTCAATTGAGTTATTTTTCTGAAAACAGATTTTCTTTTGTATAGATGGGACATAATTCTCTAGATCGCTCAGAGGAGTAGGTGTTTCCTAGAAAGTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAG... | TAAAAATAACTACTTATTAACAGGTTAATTTATATTAATTCAATTGAGTTATTTTTCTGAAAACAGATTTTCTTTTGTATAGATGGGACATAATTCTCTAGATCGCTCAGAGGAGTAGGTGTTTCCTAGAAAGTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAG... |
Task1_train_979 | The gene RPE65 (retinoid isomerohydrolase RPE65), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; RPE65-related recessive retinopathy | CAATTGAGTTATTTTTCTGAAAACAGATTTTCTTTTGTATAGATGGGACATAATTCTCTAGATCGCTCAGAGGAGTAGGTGTTTCCTAGAAAGTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAGATTTGCCTCTTTCCTTTCTTCACACATTGGTGATCTCTAA... | CAATTGAGTTATTTTTCTGAAAACAGATTTTCTTTTGTATAGATGGGACATAATTCTCTAGATCGCTCAGAGGAGTAGGTGTTTCCTAGAAAGTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAGATTTGCCTCTTTCCTTTCTTCACACATTGGTGATCTCTAA... |
Task1_train_980 | An alteration has been detected in RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; RPE65-related recessive retinopathy | GTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAGATTTGCCTCTTTCCTTTCTTCACACATTGGTGATCTCTAAAGGGGATCGTACAGCAGGAGGAGATATGGTCACCTTGAATTGTGAGACTTGCTTCATAAAAAATGAATGGGAAGAAGCCAGGGAATCATTGA... | GTCCGAATTTACGAGTTAATCTCTCCCACATAACTTAAATATCTCTTATTCTAATTTAAGTTTTTAAAGCTTATATTCTATCTTGCACTTGAAAAGTAGCTCCTAAGTCTCCTTGCTCTAATTGTAGTGATAATTGTAATTGAGAATGCCAATGATGGTGAAATGGTATTAGCCAAATGTTATCGTAGATTTGCCTCTTTCCTTTCTTCACACATTGGTGATCTCTAAAGGGGATCGTACAGCAGGAGGAGATATGGTCACCTTGAATTGTGAGACTTGCTTCATAAAAAATGAATGGGAAGAAGCCAGGGAATCATTGA... |
Task1_train_981 | The gene RPE65 (retinoid isomerohydrolase RPE65), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; RPE65-related recessive retinopathy | ACTACTATATGTACTTGCTTTTATGTTACATAAGCTTTTAATATATAACTTAATCTCTGAGATGTTATTTGGTTGAGAGGCCTCAGTTGATTAAACACAGATTTTCTTATTATAAAATCAGAAATAATAGTACTTGCTTGTAATAAACGGAAAGGTTAACATTCATAAGATTCATAATCTTTGAGCAGTTACGTATACGCAAAATAATTACTGTAATTAATCTTAGATGATAGTCCCTGGTTTGAGAAAAAGTTTGGTTTGACATTTAGTAATTAAGCCTTATTGCATGATACTTCCTTGACTCAGCAAAGCCACATATA... | ACTACTATATGTACTTGCTTTTATGTTACATAAGCTTTTAATATATAACTTAATCTCTGAGATGTTATTTGGTTGAGAGGCCTCAGTTGATTAAACACAGATTTTCTTATTATAAAATCAGAAATAATAGTACTTGCTTGTAATAAACGGAAAGGTTAACATTCATAAGATTCATAATCTTTGAGCAGTTACGTATACGCAAAATAATTACTGTAATTAATCTTAGATGATAGTCCCTGGTTTGAGAAAAAGTTTGGTTTGACATTTAGTAATTAAGCCTTATTGCATGATACTTCCTTGACTCAGCAAAGCCACATATA... |
Task1_train_982 | An alteration has been detected in RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; RPE65-related recessive retinopathy | TATTAGCGAAGTAAGAGTTTACTGAAATTAACTGACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT... | TATTAGCGAAGTAAGAGTTTACTGAAATTAACTGACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT... |
Task1_train_983 | This variant impacts the gene RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; RPE65-related recessive retinopathy | AGTTTACTGAAATTAACTGACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCA... | AGTTTACTGAAATTAACTGACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCA... |
Task1_train_984 | Mutation context: Chromosome 1, Gene RPE65 (retinoid isomerohydrolase RPE65). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; RPE65-related recessive retinopathy | AAATTAACTGACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTG... | AAATTAACTGACTCATCCATTTGGTGAGTATTTTGGGAATGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTG... |
Task1_train_985 | Mutation context: Chromosome 1, Gene RPE65 (retinoid isomerohydrolase RPE65). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; RPE65-related recessive retinopathy | TGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGC... | TGCTCAACTACATGTCAGTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGC... |
Task1_train_986 | This sequence variant lies in RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; RPE65-related recessive retinopathy | GTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGG... | GTGATATGCTTCTTAAGGGGAAAGCAAAAATCCTTAAGGTACCCAGATTGATCTCTCTCCATGATCTTTCTTTGGAGCTCCAGATCCATGTACAGCAGCTGCCTATGGAATGCTTTGCTAAGATTGCTAGTGGGTACTTTCAAATTACATCTATAAAGTAAAATTTATTCTTTTTTCTACAAGCTAGCTCCTGTTACTTCTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATGATGGAATTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGG... |
Task1_train_987 | Chromosome 1 houses a mutation in gene RPE65 (retinoid isomerohydrolase RPE65). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinitis pigmentosa 20 | CTGTTGATTTTGCTGCCTAAATATTTCTCAGCTTTGCATCTTCATCTCTCAGTCACCATTTTCTTAACTCAACTACTTATTCCCTTTTATTTGCCTCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTC... | CTGTTGATTTTGCTGCCTAAATATTTCTCAGCTTTGCATCTTCATCTCTCAGTCACCATTTTCTTAACTCAACTACTTATTCCCTTTTATTTGCCTCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTC... |
Task1_train_988 | A variant was discovered on Chromosome 1, affecting RPE65 (retinoid isomerohydrolase RPE65). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leber congenital amaurosis 2 | CTGTTGATTTTGCTGCCTAAATATTTCTCAGCTTTGCATCTTCATCTCTCAGTCACCATTTTCTTAACTCAACTACTTATTCCCTTTTATTTGCCTCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTC... | CTGTTGATTTTGCTGCCTAAATATTTCTCAGCTTTGCATCTTCATCTCTCAGTCACCATTTTCTTAACTCAACTACTTATTCCCTTTTATTTGCCTCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTC... |
Task1_train_989 | A variant on Chromosome 1 in gene RPE65 (retinoid isomerohydrolase RPE65) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; RPE65-related recessive retinopathy | CTACTTATTCCCTTTTATTTGCCTCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTA... | CTACTTATTCCCTTTTATTTGCCTCATTGCATTAATCCTGTAATAGGGCTTCTAGCCTCTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTA... |
Task1_train_990 | A variant found in Chromosome 1 affects RPE65 (retinoid isomerohydrolase RPE65). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; RPE65-related recessive retinopathy | CTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGT... | CTGCTCTAGACTCTCCACTTTCCAGTCTGTCTTCCATGATGCTGCCAGAGTAACTTTCTGAATCACAGATCTAATCATGTCCTAAAATACACTTAAAATACACATTTAAAATACTTAAATGGCTCCCTATATTTATATAACACTCAAAGGCTTATATAGCCCATTACAATATTGCTCCAACCTATCTTTCCAGTCTCTCTGCCCAAAACCCATCTCCCCTACACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGT... |
Task1_train_991 | This alteration in RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Leber congenital amaurosis 2 | ACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTACACCATATCTAAGCCTTTGGTACAAAGTTTTACATTCCATGTAGCTGTTTTAATAACCCCTTTTGTGCAACCAGGGAGCAAATAGATATAAAAGAAAGCATATATTCACATACC... | ACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTACACCATATCTAAGCCTTTGGTACAAAGTTTTACATTCCATGTAGCTGTTTTAATAACCCCTTTTGTGCAACCAGGGAGCAAATAGATATAAAAGAAAGCATATATTCACATACC... |
Task1_train_992 | This gene mutation involves RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Retinitis pigmentosa 20 | ACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTACACCATATCTAAGCCTTTGGTACAAAGTTTTACATTCCATGTAGCTGTTTTAATAACCCCTTTTGTGCAACCAGGGAGCAAATAGATATAAAAGAAAGCATATATTCACATACC... | ACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTACACCATATCTAAGCCTTTGGTACAAAGTTTTACATTCCATGTAGCTGTTTTAATAACCCCTTTTGTGCAACCAGGGAGCAAATAGATATAAAAGAAAGCATATATTCACATACC... |
Task1_train_993 | A variant was discovered on Chromosome 1, affecting RPE65 (retinoid isomerohydrolase RPE65). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leber congenital amaurosis 2 | ACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTACACCATATCTAAGCCTTTGGTACAAAGTTTTACATTCCATGTAGCTGTTTTAATAACCCCTTTTGTGCAACCAGGGAGCAAATAGATATAAAAGAAAGCATATATTCACATACC... | ACCCCTAAATAAACCAAACTCAGCAACTACTTCATATTTATAGATGAAATCTTGCATTTTTAACTCCTCCTTGCCTTTATAGACGCCCCTTTGCCTGTCTGTAACACTCAACCTCAACCTTCTCCCTCTTTCTCATTCTTCATAGAGCTTACAAACTTGCTTAAGAGCAGTGGTGTTTGGTTCTAAATTGAGTTTATTTTCTACTACACCATATCTAAGCCTTTGGTACAAAGTTTTACATTCCATGTAGCTGTTTTAATAACCCCTTTTGTGCAACCAGGGAGCAAATAGATATAAAAGAAAGCATATATTCACATACC... |
Task1_train_994 | This mutation is located in gene RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Retinitis pigmentosa | ACCCCTTTTGTGCAACCAGGGAGCAAATAGATATAAAAGAAAGCATATATTCACATACCTATATGTGAGAATTATATTTTATTGATTTTGACTGGTATTTCCATCACACTACAAATTCTAGATGTTACTCTGGTTATTCTAAAAAGACAGTCTCTAAATACAGGGAAGAAAAAGTAGAAATAAAGAGATGACTGTCTATTGTTAGTAATGATTTTTAACCTCTAGTGATATTTTTCAGAAGATTTATAGAAAACCAAAATAATGAACTGGTTTCCCTACAAGAGTACTTTTTGATGCTTCATCTCTCCAGAACTTCAAAT... | ACCCCTTTTGTGCAACCAGGGAGCAAATAGATATAAAAGAAAGCATATATTCACATACCTATATGTGAGAATTATATTTTATTGATTTTGACTGGTATTTCCATCACACTACAAATTCTAGATGTTACTCTGGTTATTCTAAAAAGACAGTCTCTAAATACAGGGAAGAAAAAGTAGAAATAAAGAGATGACTGTCTATTGTTAGTAATGATTTTTAACCTCTAGTGATATTTTTCAGAAGATTTATAGAAAACCAAAATAATGAACTGGTTTCCCTACAAGAGTACTTTTTGATGCTTCATCTCTCCAGAACTTCAAAT... |
Task1_train_995 | Mutation context: Chromosome 1, Gene RPE65 (retinoid isomerohydrolase RPE65). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; RPE65-related recessive retinopathy | TTGTGCAACCAGGGAGCAAATAGATATAAAAGAAAGCATATATTCACATACCTATATGTGAGAATTATATTTTATTGATTTTGACTGGTATTTCCATCACACTACAAATTCTAGATGTTACTCTGGTTATTCTAAAAAGACAGTCTCTAAATACAGGGAAGAAAAAGTAGAAATAAAGAGATGACTGTCTATTGTTAGTAATGATTTTTAACCTCTAGTGATATTTTTCAGAAGATTTATAGAAAACCAAAATAATGAACTGGTTTCCCTACAAGAGTACTTTTTGATGCTTCATCTCTCCAGAACTTCAAATTATTTAA... | TTGTGCAACCAGGGAGCAAATAGATATAAAAGAAAGCATATATTCACATACCTATATGTGAGAATTATATTTTATTGATTTTGACTGGTATTTCCATCACACTACAAATTCTAGATGTTACTCTGGTTATTCTAAAAAGACAGTCTCTAAATACAGGGAAGAAAAAGTAGAAATAAAGAGATGACTGTCTATTGTTAGTAATGATTTTTAACCTCTAGTGATATTTTTCAGAAGATTTATAGAAAACCAAAATAATGAACTGGTTTCCCTACAAGAGTACTTTTTGATGCTTCATCTCTCCAGAACTTCAAATTATTTAA... |
Task1_train_996 | This gene mutation involves RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; RPE65-related recessive retinopathy | CAATGGGAGGTGTCCCATTTGTCCAGTGTCCTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAAGTGTACATTATTAAACACATCTTCTTCAGAATCACAAACTTGACAAATATATCTAAGACTTACCCCCATGGTTTCATTGGACTCAAAACAATCCA... | CAATGGGAGGTGTCCCATTTGTCCAGTGTCCTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAAGTGTACATTATTAAACACATCTTCTTCAGAATCACAAACTTGACAAATATATCTAAGACTTACCCCCATGGTTTCATTGGACTCAAAACAATCCA... |
Task1_train_997 | Gene RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; RPE65-related recessive retinopathy | AATGGGAGGTGTCCCATTTGTCCAGTGTCCTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAAGTGTACATTATTAAACACATCTTCTTCAGAATCACAAACTTGACAAATATATCTAAGACTTACCCCCATGGTTTCATTGGACTCAAAACAATCCAT... | AATGGGAGGTGTCCCATTTGTCCAGTGTCCTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAAGTGTACATTATTAAACACATCTTCTTCAGAATCACAAACTTGACAAATATATCTAAGACTTACCCCCATGGTTTCATTGGACTCAAAACAATCCAT... |
Task1_train_998 | A variant on Chromosome 1 in gene RPE65 (retinoid isomerohydrolase RPE65) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; RPE65-related recessive retinopathy | CTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAAGTGTACATTATTAAACACATCTTCTTCAGAATCACAAACTTGACAAATATATCTAAGACTTACCCCCATGGTTTCATTGGACTCAAAACAATCCATGTAGTTGGCTCCCCAAAGACTCCATGAAG... | CTTTCTTACCCTTTCCAGCAGCAGAGATCCACAATCAGAAACCCATTGTCTTCATAGGTGTTGATGTGATGGAAGAGGTTGAAAGGAGAAGTTCTGTATTTATTATTGAGGTACTTTTTCCTTTTTTTGTCAGCAATATGAAGCCAAACCTTGAAAAATGAGGAAAATATTTTGATGCATTTAAAAAGGAAAAAAGTGTACATTATTAAACACATCTTCTTCAGAATCACAAACTTGACAAATATATCTAAGACTTACCCCCATGGTTTCATTGGACTCAAAACAATCCATGTAGTTGGCTCCCCAAAGACTCCATGAAG... |
Task1_train_999 | Here is a variant affecting RPE65 (retinoid isomerohydrolase RPE65) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; RPE65-related recessive retinopathy | ATTGTATTTAAGGGAATCAGGCTGGAGGCAAAGGCACTGGTTAATAACAGTAAACAATCAAAAATTTCACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTAT... | ATTGTATTTAAGGGAATCAGGCTGGAGGCAAAGGCACTGGTTAATAACAGTAAACAATCAAAAATTTCACATTTTTAAAATTACATTTTACAGTGCTAGTAACAGTGGAACCTGACTCCTAATAAAGTCTATTCTGCAGCCATACCATAGCTTCTATATTTCTAATTAAAATATCATGTAATTGTAATACAGATTCCCTATCAAAGTCAAATGAATGATTTAGAAACTCAGCTTTTGTTCTTCTCTAAAGGAGCTACACACACACTTGTATATGGTTACACACACACAACATAAACAAGAAAGAGCTATGGGGAGTGTAT... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.