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_27200 | A variant on Chromosome 19 in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... |
Task1_train_27201 | Chromosome 19 houses a mutation in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Alternating hemiplegia of childhood 2 | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... |
Task1_train_27202 | This is a variant in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Dystonia 12 | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... | TCCCAAGTAGCTGGGATTACAGATGAGTGCCGCCACGCCAGGCTAATTTTTTTTTAATTTTTAGTGGAGACGGGGTTTCACCATGTTAGCCAGGATAGTCTCGATCTCCTGGCCTTGTGATCTGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGTTTTTTTTTTTTTTTTTTTTTGTATTTTTCGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGTACTCCTGACCTCAAGTGACCCGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGGGAGCCACCGCG... |
Task1_train_27203 | This variant lies on Chromosome 19 and affects the gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dystonia 12 | GGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGA... | GGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGA... |
Task1_train_27204 | A variant has been detected on Chromosome 19 in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Inborn genetic diseases | GGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGA... | GGGCGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGA... |
Task1_train_27205 | Given this context: Chromosome 19, gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Dystonia 12 | CGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTG... | CGGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTG... |
Task1_train_27206 | This variant affects the gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Dystonia 12 | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... |
Task1_train_27207 | This mutation is located in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Dystonia 12 | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... |
Task1_train_27208 | The variant affects gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; ATP1A3-associated neurological disorder | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... |
Task1_train_27209 | This mutation is located in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Seizure | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... |
Task1_train_27210 | A variant on Chromosome 19 in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Dystonia 12 | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... |
Task1_train_27211 | The gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Alternating hemiplegia of childhood 2 | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... |
Task1_train_27212 | A sequence alteration has been identified in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... |
Task1_train_27213 | Here is a variant affecting ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Dystonia 12 | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... |
Task1_train_27214 | A variant found in Chromosome 19 affects ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Alternating hemiplegia of childhood 2 | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... | GGCAGGAGATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGG... |
Task1_train_27215 | Chromosome 19 houses a mutation in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Dystonia 12 | ATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGG... | ATAGTGGAGGGGGTGGGGGCCAAGGTGGGGCCACAGGAAGAGAGGGCTCCTCCCCCCAGAATACAAAATTGGGGGGACTGACAGGGGCGGTCCTGGGCCTGGGGGACGGGGAAGAGATGGGCGATGTGGTGGGGCTGAGGTCAGTAGTAGGTTTCCTTCTCCACCCAACCTGGAGAGACAAAGAAGGAAAGAAAGAGACAGAGTAAGAGATGGAGAGAGACAGGCAAGGCGAGCCGCCCAGCAGAGAGAGGGACAGAGAGGGAGAGAGACAAGGAAACCACACAGACAGAGACCCGTGAGAAGACAGAGTGGGTGCCCGG... |
Task1_train_27216 | Gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Dystonia 12 | CAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGC... | CAGGGGACTGGAGGGGACGCAGAGGGGCAGTCTCCCAGGATCCTTCGTGCTCACAGGTGGAGGGTGCCCTGGGCGGGGCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGC... |
Task1_train_27217 | Mutation context: Chromosome 19, Gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | GCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCA... | GCTGGGGCCTGGGGTCTTCGGAGTAATCCGTGGTGGGAGCAGCCTATGGGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCA... |
Task1_train_27218 | The variant affects gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy 99 | GGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCA... | GGGGAGGCTCGGGGGCATCAGAATGGGGACTGCAGTGGGGACACCAGGGGAGGTGGGGCCTGAGGTTCAGGCTGAGTCTAAGGGAAGGCTCCATGGCAGGCGCTGGTGTGGGCAGGGCTGGGGGCAGCGGGGCACTCACTTGAGAGGGTACATGCGCAGGGCCACGTCCATGCCGGGGCAGTAGGACAGGAAGGCAGCCAGGGCCGTCTCCTCAAACAGCCCGAAGATCAGGATCTTGTTCCTGGAGGCACAGAAGGGCAGGGCTGGGCCCAGAGAGCACCCACCCTGCACCTGCCACCCCGCAGAGACAGGGGGAGGCA... |
Task1_train_27219 | This variant affects gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy 99 | AGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAA... | AGAAAATCAGTGCAGTGGCAAAACCCAAAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAA... |
Task1_train_27220 | An alteration has been detected in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Alternating hemiplegia of childhood 2 | AAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGC... | AAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGC... |
Task1_train_27221 | The gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Inborn genetic diseases | AAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGC... | AAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGC... |
Task1_train_27222 | This is a variant in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | AAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGC... | AAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGC... |
Task1_train_27223 | Gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Dystonia 12 | AAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGC... | AAATGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGC... |
Task1_train_27224 | A variant was discovered on Chromosome 19, affecting ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Dystonia 12 | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27225 | The gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Alternating hemiplegia of childhood 2 | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27226 | This sequence variant lies in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27227 | This sequence variant lies in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not specified | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27228 | The variant affects gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Inborn genetic diseases | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27229 | With a mutation on Chromosome 19 in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Alternating hemiplegia of childhood 2 | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27230 | Mutation context: Chromosome 19, Gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Seizure | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27231 | A sequence alteration has been identified in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Oculogyric crisis | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27232 | Consider a variant on Chromosome 19 in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Determine its clinical classification and disease relevance. | Pathogenic; Hemiplegia | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27233 | This variant affects the gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Global developmental delay | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27234 | Here is a mutation in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy 99 | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27235 | The gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Seizure | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27236 | This alteration occurs within gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Neurodevelopmental delay | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27237 | Gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Dyskinesia | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27238 | With a mutation on Chromosome 19 in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Dystonic disorder | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27239 | A sequence alteration has been identified in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Dystonia 12 | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... | GGGCATGGTGGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTA... |
Task1_train_27240 | This variant lies on Chromosome 19 and affects the gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dystonia 12 | TCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACT... | TCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGAAGATTGCCTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACTCTACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACT... |
Task1_train_27241 | This sequence change occurs on Chromosome 19, altering ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Dystonia 12 | ACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGT... | ACTAAAAATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGT... |
Task1_train_27242 | Here is a genetic alteration in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Dystonia 12 | ATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCC... | ATACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCC... |
Task1_train_27243 | This gene mutation involves ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Alternating hemiplegia of childhood 2 | TACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCT... | TACGAAAAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCT... |
Task1_train_27244 | This gene mutation involves ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Dystonia 12 | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27245 | Located on Chromosome 19, this mutation impacts ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Dystonia 12 | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27246 | The gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Developmental and epileptic encephalopathy 99 | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27247 | A mutation on Chromosome 19 affecting ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Alternating hemiplegia of childhood 2 | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27248 | A mutation in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Dystonia 12 | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27249 | A variant was discovered on Chromosome 19, affecting ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Alternating hemiplegia of childhood 2 | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27250 | The gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27251 | Consider this mutation in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27252 | A variant was discovered on Chromosome 19, affecting ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Alternating hemiplegia of childhood 2 | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27253 | A change on Chromosome 19 affects gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; ATP1A3-related disorder | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27254 | The variant affects gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy 99 | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27255 | Gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Dystonia 12 | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... | AAATTAGCCGAGCCTGGTGGTGCGTACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCA... |
Task1_train_27256 | A variant on Chromosome 19 in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Dystonia 12 | AATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGG... | AATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGG... |
Task1_train_27257 | This mutation occurs in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Dystonia 12 | CGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCA... | CGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCA... |
Task1_train_27258 | Consider a variant on Chromosome 19 in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Determine its clinical classification and disease relevance. | Pathogenic; Alternating hemiplegia of childhood 2 | CGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCA... | CGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCA... |
Task1_train_27259 | This variant lies on Chromosome 19 and affects the gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | TTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACC... | TTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACC... |
Task1_train_27260 | This variant lies on Chromosome 19 and affects the gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dystonia 12 | GCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCT... | GCAAGACTCTGTCTCTAAATAAATAAATAAAAATTAGCCATATATGATGGTGCACACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGTGGGTGGGTCACTTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTATGATTACACCACTGAACTCCAGTCTGGGTGACAGAGTGAGACCCTGCCTCAACAAAACAACAAAAAACCAAAGCAAGGACACAAGAGGAAGTACACAGACAGACAGACACTCGGACAGGACAGATGGCTGTCCAGTCACCATGTGCCCCCGGCCCTCACTTCATGCCCTGCTGGAAGACCGAGTTCCT... |
Task1_train_27261 | This sequence variant lies in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Dystonia 12 | CCTCACTTCAGAGAGGCCTTCCCTGTCCACCCCATCTGGGCAGGACCCTCACTATTATCTATCACAGCGGCCTGCTTTCTTCGGGGCATATATCACAATTTGTAATTACATATCTGTTAACTTGTTTAAGGCTGTCTCTCCAGCCCTGTGAGAACAGGGATGGTGTCTGCTCTGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAAT... | CCTCACTTCAGAGAGGCCTTCCCTGTCCACCCCATCTGGGCAGGACCCTCACTATTATCTATCACAGCGGCCTGCTTTCTTCGGGGCATATATCACAATTTGTAATTACATATCTGTTAACTTGTTTAAGGCTGTCTCTCCAGCCCTGTGAGAACAGGGATGGTGTCTGCTCTGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAAT... |
Task1_train_27262 | A variant affecting Chromosome 19, within the gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Dystonia 12 | CCTCACTTCAGAGAGGCCTTCCCTGTCCACCCCATCTGGGCAGGACCCTCACTATTATCTATCACAGCGGCCTGCTTTCTTCGGGGCATATATCACAATTTGTAATTACATATCTGTTAACTTGTTTAAGGCTGTCTCTCCAGCCCTGTGAGAACAGGGATGGTGTCTGCTCTGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAAT... | CCTCACTTCAGAGAGGCCTTCCCTGTCCACCCCATCTGGGCAGGACCCTCACTATTATCTATCACAGCGGCCTGCTTTCTTCGGGGCATATATCACAATTTGTAATTACATATCTGTTAACTTGTTTAAGGCTGTCTCTCCAGCCCTGTGAGAACAGGGATGGTGTCTGCTCTGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAAT... |
Task1_train_27263 | With a mutation on Chromosome 19 in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Dystonia 12 | GGCAGGACCCTCACTATTATCTATCACAGCGGCCTGCTTTCTTCGGGGCATATATCACAATTTGTAATTACATATCTGTTAACTTGTTTAAGGCTGTCTCTCCAGCCCTGTGAGAACAGGGATGGTGTCTGCTCTGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAATTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCCCAGGAG... | GGCAGGACCCTCACTATTATCTATCACAGCGGCCTGCTTTCTTCGGGGCATATATCACAATTTGTAATTACATATCTGTTAACTTGTTTAAGGCTGTCTCTCCAGCCCTGTGAGAACAGGGATGGTGTCTGCTCTGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAATTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCCCAGGAG... |
Task1_train_27264 | A genetic alteration is present in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Dystonia 12 | GTGAGAACAGGGATGGTGTCTGCTCTGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAATTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCCCAGGAGTTGAAGACCTCGCTGGGCGAGGTGGCTCACCCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGCGGGGATCACTTCAGGTCAGGAGATCAAGACCAGCCTGGCTAACA... | GTGAGAACAGGGATGGTGTCTGCTCTGCTCACAGCTGCCTCCCAGGCTTCCAGCATGATGCACAAGATTCGGAAGGAGCAGACGGCTGTATCTGAGACAGTGTGTGTACTGTGTATGCATAGATGTCTTGGGGAGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCAAATTGGGAGGCCAAGGTGGGAGGATTGCTTGAGCCCAGGAGTTGAAGACCTCGCTGGGCGAGGTGGCTCACCCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGCGGGGATCACTTCAGGTCAGGAGATCAAGACCAGCCTGGCTAACA... |
Task1_train_27265 | Here is a mutation in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Dystonia 12 | AGACCCTCCTCCCTCAGACCCAGAGGTCCAGGCCCCCAGCCTCCTTCTCCCTCAGACTCAGCAGTCCAGGCCCCCAGACCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGGGTCCAGGCCCCCACCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCTATCCCCTCTTCCCTCATACCCAGAAGTCCAGGCCCCCTCCCTCAGACCCAAGGGTCCAGGTCCCCAGCCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGACCCTCCTCTCTCAGACCCAGGGGTCCAG... | AGACCCTCCTCCCTCAGACCCAGAGGTCCAGGCCCCCAGCCTCCTTCTCCCTCAGACTCAGCAGTCCAGGCCCCCAGACCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGGGTCCAGGCCCCCACCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCTATCCCCTCTTCCCTCATACCCAGAAGTCCAGGCCCCCTCCCTCAGACCCAAGGGTCCAGGTCCCCAGCCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGACCCTCCTCTCTCAGACCCAGGGGTCCAG... |
Task1_train_27266 | The gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Alternating hemiplegia of childhood 2 | AGACCCTCCTCCCTCAGACCCAGAGGTCCAGGCCCCCAGCCTCCTTCTCCCTCAGACTCAGCAGTCCAGGCCCCCAGACCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGGGTCCAGGCCCCCACCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCTATCCCCTCTTCCCTCATACCCAGAAGTCCAGGCCCCCTCCCTCAGACCCAAGGGTCCAGGTCCCCAGCCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGACCCTCCTCTCTCAGACCCAGGGGTCCAG... | AGACCCTCCTCCCTCAGACCCAGAGGTCCAGGCCCCCAGCCTCCTTCTCCCTCAGACTCAGCAGTCCAGGCCCCCAGACCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGGGTCCAGGCCCCCACCCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCTATCCCCTCTTCCCTCATACCCAGAAGTCCAGGCCCCCTCCCTCAGACCCAAGGGTCCAGGTCCCCAGCCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGACCCTCCTCTCTCAGACCCAGGGGTCCAG... |
Task1_train_27267 | This alteration in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Alternating hemiplegia of childhood 2 | TCAACTCCTGTCTCTCTTTGGCTGAGAGCCCCCTGGAGGCTTGTGTGCTCCTCAGAGTCACAGCCAAGTCCTCTCCATGCCCGTGGGGCCTGACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCT... | TCAACTCCTGTCTCTCTTTGGCTGAGAGCCCCCTGGAGGCTTGTGTGCTCCTCAGAGTCACAGCCAAGTCCTCTCCATGCCCGTGGGGCCTGACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCT... |
Task1_train_27268 | A variant affecting Chromosome 19, within the gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Dystonia 12 | TGCCCGTGGGGCCTGACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCA... | TGCCCGTGGGGCCTGACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCA... |
Task1_train_27269 | This mutation is located in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental and epileptic encephalopathy 99 | GGGGCCTGACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGG... | GGGGCCTGACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGG... |
Task1_train_27270 | A variant has been detected on Chromosome 19 in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Dystonia 12 | GGCCTGACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGC... | GGCCTGACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGC... |
Task1_train_27271 | Chromosome 19 houses a mutation in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Alternating hemiplegia of childhood 2 | GGCCTGACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGC... | GGCCTGACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGC... |
Task1_train_27272 | The gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Dystonia 12 | ACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACA... | ACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACA... |
Task1_train_27273 | The gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | ACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACA... | ACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACA... |
Task1_train_27274 | This mutation is located in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Alternating hemiplegia of childhood 2 | ACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACA... | ACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACA... |
Task1_train_27275 | This mutation occurs in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy 99 | ACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACA... | ACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACA... |
Task1_train_27276 | A variant affecting Chromosome 19, within the gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Dystonia 12 | ACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACA... | ACAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACA... |
Task1_train_27277 | Given a variant located on Chromosome 19 and affecting ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Dystonia 12 | CAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACAT... | CAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACAT... |
Task1_train_27278 | A genomic change on Chromosome 19 affects ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Dystonia 12 | CAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACAT... | CAGGATCTGGCCAGCACCCACCACCCCCACCACGCTCCCTGGCTCCCAGCCCCTCTGCACTGGCTGGCTGGCTGGTGTTCAGATGCGTCAGCACACTCCCGCCTCTGGGCCTTTGCACAGGCTGTGCCTGCTACCGGAGCGCTCTTCCCCCAGACACCTGCAGGGTTCCCTCCCTCAGCACCACAACCACTACGATTACCTCCTCATGCCTTTGTTATTGTCTGTCTTCTAGAACCAGAGCGTAAGTCTCAGAGAGGGGTGACTTCACCATGTCACTCACTACTGTGTGTACACCCAGCACCCAAAACAGGGCCTAACAT... |
Task1_train_27279 | This variant affects the gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Dystonia 12 | ATAAGGTCTTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCAC... | ATAAGGTCTTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCAC... |
Task1_train_27280 | This variant impacts the gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Alternating hemiplegia of childhood 2 | ATAAGGTCTTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCAC... | ATAAGGTCTTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCAC... |
Task1_train_27281 | Given a variant located on Chromosome 19 and affecting ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Dystonia 12 | ATAAGGTCTTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCAC... | ATAAGGTCTTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCAC... |
Task1_train_27282 | Mutation context: Chromosome 19, Gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy 99 | CTTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACG... | CTTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACG... |
Task1_train_27283 | Given this variant in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; ATP1A3-related disorder | TTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGC... | TTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGC... |
Task1_train_27284 | An alteration has been detected in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dystonia 12 | TTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGC... | TTGAGGGGGCTTCAGGGAGACGCAGTCTCGTTGCAGCTGACGTGATTCTGTTCAGTTTGCCCCAAATCATCAGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGC... |
Task1_train_27285 | A variant has been detected on Chromosome 19 in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Developmental and epileptic encephalopathy 99 | AGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGA... | AGACTATGTGCTCACAATATGCTTAATCCTTTGCGTATAAAAATCCATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGA... |
Task1_train_27286 | This alteration in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Dystonia 12 | ATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCGGATTCCCAAAGTGCTGGGATTAC... | ATTTGACATAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCGGATTCCCAAAGTGCTGGGATTAC... |
Task1_train_27287 | This sequence variant lies in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Dystonia 12 | TAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCGGATTCCCAAAGTGCTGGGATTACAGGCGTGA... | TAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCGGATTCCCAAAGTGCTGGGATTACAGGCGTGA... |
Task1_train_27288 | Given this context: Chromosome 19, gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Dystonia 12 | TAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCGGATTCCCAAAGTGCTGGGATTACAGGCGTGA... | TAGGGTAGCATTCAACATTGCTAATATGGAAAACAGTAAACTTTTTTTTTTTTTGAGACACAGTCTTGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCTCGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTTGTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCGGATTCCCAAAGTGCTGGGATTACAGGCGTGA... |
Task1_train_27289 | This is a variant in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Dystonia 12 | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... |
Task1_train_27290 | Here’s a variant in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Alternating hemiplegia of childhood 2 | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... |
Task1_train_27291 | An alteration has been detected in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Epicanthus | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... |
Task1_train_27292 | This sequence variant lies in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Ventriculomegaly | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... |
Task1_train_27293 | This variant affects gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Abnormal earlobe morphology | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... |
Task1_train_27294 | Chromosome 19 houses a mutation in gene ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Depressed nasal bridge | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... |
Task1_train_27295 | Here is a mutation in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Seizure | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... |
Task1_train_27296 | A genetic alteration is present in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Dystonia 12 | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... | ACTCCTGACCTCAAGCAGTCCTCCTGCCTCAGCCTCCCAAACTGTTGGGATTAAAGGCGTGAGCCACTGCGCCAGGCTTATTATTTTATTTTATTTATTTATTTATTTATTTTTGAGATGGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCCACTAATTTTGTATTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAAC... |
Task1_train_27297 | This alteration in ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Dystonia 12 | TGCATCTTCTCACCTTCCCGGATCACCAGGGCTTGCTGAGGTGGGATGGAGTAATGTCACCTCCCAGACTCCCTCTGCCTGGGGGTCACTGGGCCCGGCCCCCAGCCCATACACTAACACCCCCGTCTGGCCCCTTGCTGGGCACCCTTCACCTGGGGCACCATGTTCTTGAAGGACTCCATGATCTTGGAGCTCTTGGCCTCCTGGTAGTAGGAGAAGCAGCCAGTGATGATCACCACGGCCGCCAGCACGATGCCCAGGTACAGCTGTGGGGAGATGTGGGGATGTTGATCAGGGGCCGCCCAAGCCACTCTCCACCA... | TGCATCTTCTCACCTTCCCGGATCACCAGGGCTTGCTGAGGTGGGATGGAGTAATGTCACCTCCCAGACTCCCTCTGCCTGGGGGTCACTGGGCCCGGCCCCCAGCCCATACACTAACACCCCCGTCTGGCCCCTTGCTGGGCACCCTTCACCTGGGGCACCATGTTCTTGAAGGACTCCATGATCTTGGAGCTCTTGGCCTCCTGGTAGTAGGAGAAGCAGCCAGTGATGATCACCACGGCCGCCAGCACGATGCCCAGGTACAGCTGTGGGGAGATGTGGGGATGTTGATCAGGGGCCGCCCAAGCCACTCTCCACCA... |
Task1_train_27298 | Consider this mutation in ZNF526 (zinc finger protein 526) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Dentici-Novelli neurodevelopmental syndrome | AGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGCCTCCATCTCAACAATAACAACAAAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACACTTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTAGGAGGTGGAGGTTGTAGTGAGCCGAGATTGCGCCACTGTACTCTAGCCTGGCAACAGAGCAAGAGTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAGGCCGGGCTGTTGGCCGGGGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCAA... | AGTGAGCAGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGCCTCCATCTCAACAATAACAACAAAAAAATACAAAAATTAGCTGGGCATGGTGGCGCACACTTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTAGGAGGTGGAGGTTGTAGTGAGCCGAGATTGCGCCACTGTACTCTAGCCTGGCAACAGAGCAAGAGTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAGGCCGGGCTGTTGGCCGGGGTGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCAA... |
Task1_train_27299 | Given this variant in gene ERF (ETS2 repressor factor) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | CTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCC... | CTCCGCCCCCCACCCCCCAACACATGGAATTTTTGGTTCATTATAAAATTGTCCCTCCCTCCCCTGCTGTGACCTTGTGGGGTATGAGAAACCTAGGCACTCATGGCCCCCTGGAGGGGCAGGGCAGGCAGGGCTGGGGCTGAGGAGGGCTGGGAGTGGGGCAGAGCGGGTGGGTCAGAGGGGTACAAGAGGCAGAGAACAGGGAGGGAGACAAGGCTTTACTTCCTAAGCGATTGTAATAGAAAAGTTCCTGGGTGTTAAGGCCAAAGCCTCAATTCAAATATAAATTCCCCAGAATGGAGGTGACCCCCTTAACTTCC... |
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