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_26700 | A genetic alteration is present in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Developmental and epileptic encephalopathy, 42 | CACTGGTGGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATC... | CACTGGTGGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATC... |
Task1_train_26701 | Mutation context: Chromosome 19, Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 42 | GGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGG... | GGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGG... |
Task1_train_26702 | This alteration occurs within gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Episodic ataxia type 2 | GGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGG... | GGTTAGGTTCAGAGAGGAGGAGAATGGGGGAAGAGGTTTTAAAAATACATACAGAAAAAGACGTTTTTGGACTTTAAATCCTTCTTCAGCCTTCATGCAGGGCCTCATTCGTAAAACAGAAAAGCCAACAAAGAAAAAGCAAAGAAAAGGCAACGAGAAAGAAATGGCCAGAAATGAACCCGCCCATAAGAAAAGTCATGCCATTGCAGGCAGCTCTCCCGCTGTGCTCCGAATCACTGGAACGGGGAGCAACCTTACCACCTTGGAAATGGTCAGATCAGGACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGG... |
Task1_train_26703 | Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Episodic ataxia type 2 | GACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTT... | GACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTT... |
Task1_train_26704 | This variant affects gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Developmental and epileptic encephalopathy, 42 | GACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTT... | GACACTGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTT... |
Task1_train_26705 | This alteration occurs within gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... |
Task1_train_26706 | Here is a mutation in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Migraine, familial hemiplegic, 1 | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... |
Task1_train_26707 | A variant was discovered in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Episodic ataxia type 2 | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... |
Task1_train_26708 | The following genetic variant occurs in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Episodic ataxia type 2 | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... |
Task1_train_26709 | Mutation context: Chromosome 19, Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 42 | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... |
Task1_train_26710 | A mutation on Chromosome 19 affecting CACNA1A (calcium voltage-gated channel subunit alpha1 A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Spinocerebellar ataxia type 6 | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... |
Task1_train_26711 | Here’s a variant in CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Episodic ataxia type 2 | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... |
Task1_train_26712 | A genomic change on Chromosome 19 affects CACNA1A (calcium voltage-gated channel subunit alpha1 A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 42 | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... |
Task1_train_26713 | This mutation is located in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Migraine, familial hemiplegic, 1 | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... |
Task1_train_26714 | Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 42 | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... | TGTCAGAGACAACATGGAGATGGGATCTGGCTGGCCACCCTGCTCTCATAGGGCCACCCCCACCCCTCCTGGCACCATTCCCAGCATTTTTCAGAGCTAGGTCTCTGGACCATCTGCCTCAGAAACACCTAAAATGCAGATCCTCAGGCTCCCCAAATAATCTATAGAACCAGTGCTGGGCCCTGGAATCTGCATTTCCCACAGGTTCCCAAGTGAGCATAAAACATGCCCAAATTCAAGCAACTGGTACACAGCAGTTAAGAGCACAAGCTGCAGACCCAGACGGCCTGGGTTCAAATCCCAGCTCCACAACTTACTGC... |
Task1_train_26715 | The gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Spinocerebellar ataxia type 6 | TGAAGTCACATTTTCTATACACTCTCAGTCCCTCAAAGAGAAAGAATCCACCAAAGATGCTCTGAAGGTCCCGGCTGGGCCAGTCCCAAGCCTCAGGGAATGCGCCCACATGGGTGCAGAAGTTGCTTTGGGTTGATCACCCTGGAATATGAGACCAAGGTATCTTCAGATTTGATGGGTGTATTAGCCATTTTTTTTCTCTGCCTTTTTTTTAAGAGACAGGGCCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACA... | TGAAGTCACATTTTCTATACACTCTCAGTCCCTCAAAGAGAAAGAATCCACCAAAGATGCTCTGAAGGTCCCGGCTGGGCCAGTCCCAAGCCTCAGGGAATGCGCCCACATGGGTGCAGAAGTTGCTTTGGGTTGATCACCCTGGAATATGAGACCAAGGTATCTTCAGATTTGATGGGTGTATTAGCCATTTTTTTTCTCTGCCTTTTTTTTAAGAGACAGGGCCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACA... |
Task1_train_26716 | This alteration occurs within gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Spinocerebellar ataxia type 6 | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... |
Task1_train_26717 | Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Episodic ataxia type 2 | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... |
Task1_train_26718 | With a mutation on Chromosome 19 in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Developmental and epileptic encephalopathy, 52 | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... |
Task1_train_26719 | Consider this mutation in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Migraine, familial hemiplegic, 1 | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... |
Task1_train_26720 | The gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spinocerebellar ataxia type 6 | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... |
Task1_train_26721 | A variant found in Chromosome 19 affects CACNA1A (calcium voltage-gated channel subunit alpha1 A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Episodic ataxia type 2 | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... |
Task1_train_26722 | The following genetic variant occurs in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental and epileptic encephalopathy, 42 | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... | CCTTGCTCTGTGGTGCAGGCTGGAGCTCACGGCAGCCTTGAACTCCTGGGCTCAAGCAATCCTCCCGCCTTGGTCTCCCAAAGTGCTGAGATTACAGGCATGAACCACCTCATTGGCCTGGCCACGCATTTTATTTTCTTTATTCTGATGCATCTGGGGTCTTGCTGACTCTGGAGGGACTGCCCGGTCCAGCACTAGCCAGTCCCTAGAGGTAGTAAACAATTTAGCCCTGAGCAGGCTTTTTAAAAGCAAACCAAACAATATCCCAACCAGCCCATATCCCAACCACCTCCTTTATCTTCCCAGCACTATCCACCTGC... |
Task1_train_26723 | This gene mutation involves CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Inborn genetic diseases | CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCT... | CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCT... |
Task1_train_26724 | This gene mutation involves CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 42 | CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCT... | CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCT... |
Task1_train_26725 | Here is a mutation in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Episodic ataxia type 2 | CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCT... | CTCGTTAAGTTTCTAACATGGGAGACAGCAGCCGTTCACAGTAAACTGGATTATTGGTGGAATTATTACTTATTTAGCAAACAGAAACGTGCTGACCCCATGCCAGGCACTATCCCAGGTGTTCTATTTGCCATAACGAATATCATTCTGAGAAACAATCTCGTGAGCTAGGGTATTGTTTATATCATACCCATTTTGCAGATGAGAAAAACCAAGGCACAAAGCAGAAAAAACCAGGTCCATGGTTAAAACAAAAAAGTGGAGGCCAGAATAGGGAAACTCTGCATGGAAGTCCTAAAATTCCTCCAAGAGGAACGTCT... |
Task1_train_26726 | Here is a variant affecting CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Developmental and epileptic encephalopathy, 42 | GAGGACAGAGTGGGGTTTAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAG... | GAGGACAGAGTGGGGTTTAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAG... |
Task1_train_26727 | A mutation on Chromosome 19 affecting CACNA1A (calcium voltage-gated channel subunit alpha1 A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Episodic ataxia type 2 | GAGGACAGAGTGGGGTTTAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAG... | GAGGACAGAGTGGGGTTTAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAG... |
Task1_train_26728 | Here is a mutation in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Episodic ataxia type 2 | TAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAGCCTGGACGACAGAGGGA... | TAAAACTTGCACACCTAAATATCTATCAAAATTATAAATGCATTTAGGCTGGGTGCAGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTCTGAGAGCAGCCTGGGAAACATAGTGAGACCCCATCTCTATAAAATTGTTCTTAAAAATTAGCTAGGTATGGTGGTGTGTGCCTGTGGTCCCAGCTACTCAGGAGGCTGGGGTGGGAGGATCACCTGAGCCCAGGAGTTTAAGGCTGCAGTGAGCTATGATTACACCACTGCGCTCCAGCCTGGACGACAGAGGGA... |
Task1_train_26729 | A variant affecting Chromosome 19, within the gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Disorder of sexual differentiation | TCTTCATCGGGGAAAGAAATAATTAGGACATTCCATATTGAGCAAACTTCACAAGCCCAGGAGAGAAAGAGACAGGAGGAGCAAGAGAAAAAGAGGAAAAAAAAAACCAACAAACCAAAACCCACAAAAAAACCCAAACCTCCAACCATTGCAAATAAACCTTCCCCAGTGGGTTTTCCCTCCCCGTGGGGAGGAGTGGGGAGGGAGGGCTCAGGGGCTGCCTCTGCGGATCCACTTGGGGGTCACTGGGTGGAGAGGGTGGGTGGAAATCCACTCCCAGACAGAATCTTCTTCTGTGGCTGCCTTTCCCAAATAAGGGG... | TCTTCATCGGGGAAAGAAATAATTAGGACATTCCATATTGAGCAAACTTCACAAGCCCAGGAGAGAAAGAGACAGGAGGAGCAAGAGAAAAAGAGGAAAAAAAAAACCAACAAACCAAAACCCACAAAAAAACCCAAACCTCCAACCATTGCAAATAAACCTTCCCCAGTGGGTTTTCCCTCCCCGTGGGGAGGAGTGGGGAGGGAGGGCTCAGGGGCTGCCTCTGCGGATCCACTTGGGGGTCACTGGGTGGAGAGGGTGGGTGGAAATCCACTCCCAGACAGAATCTTCTTCTGTGGCTGCCTTTCCCAAATAAGGGG... |
Task1_train_26730 | With a mutation on Chromosome 19 in gene CACNA1A (calcium voltage-gated channel subunit alpha1 A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Episodic ataxia type 2 | TGAGACAGGGTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAA... | TGAGACAGGGTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAA... |
Task1_train_26731 | Gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 42 | TGAGACAGGGTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAA... | TGAGACAGGGTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAA... |
Task1_train_26732 | The gene CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 42 | GTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACT... | GTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACT... |
Task1_train_26733 | This sequence change occurs on Chromosome 19, altering CACNA1A (calcium voltage-gated channel subunit alpha1 A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Episodic ataxia type 2 | GTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACT... | GTCACACTTTGTTGCCCAGGCTGGTGTTGAACTCCTAGCCTCAGGCAATCGTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTCTTTTGACTATTAGATTTGGGATGGCCCTTAATTTAATATGATGCAGGCATCTGCTGGGATCTTGCAGAGACCTTGGATAGAAGTGTCTTCTTTCTACAAAAAGATCCTGCTGGTGATCCTCTGGGAAATCTTACTCTTTAAACCTGGGTAGCAATGAACCGGAAGAACGAAGCCAATAAAATGTAAAATGGTGATAATAAAAGAGACTACT... |
Task1_train_26734 | A mutation on Chromosome 19 affecting CACNA1A (calcium voltage-gated channel subunit alpha1 A) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Developmental and epileptic encephalopathy, 42 | GTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAA... | GTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAA... |
Task1_train_26735 | This sequence change occurs on Chromosome 19, altering CACNA1A (calcium voltage-gated channel subunit alpha1 A). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Episodic ataxia type 2 | GTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAA... | GTGCTGGGATACAGGCATGAGCCACCCTGCCCAGCTTTACATTTTTTAAACAATAAAAAAGTTAGCCACTAGGCTGTTTCTAGATGAGTTTCCTAGTAGACTAAGAGAAAAGTGCCCAGTACCATAATATGCCCTTGGAACCCACCAAGGTCCCAAGCCACCGAACTGTGAGCACAGCCAACAAAGATCCCTCTGTGAACACCCAAGCCCATGAGAGCTAGCCCAGAGTCCTTACAACAGACTGCTGACATCTGAAGGCCTCTACAGAAACAGCCCAATAGGCCACAGCTCCTTCTGTGAGAGGCAACATTGCTCTGAAA... |
Task1_train_26736 | This mutation occurs in CACNA1A (calcium voltage-gated channel subunit alpha1 A) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 42 | TTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAG... | TTGCAGAGTTCTCTTGTCCAAAGCCTTTTGCGAGCAAAGCCAATGCCTAGAGAAGGCACCTTCCTCCTTCATTCCTTTTGGGCCAACCTCACATATCACTCAGCTAAACAGAATTATTTGTTTGCACCTGTCTTATTCAATACGACAGTCACAGGCCACATGTGGCTATTTCAATTAAAATTAATTTAAATGCAATAAAATAAAAAACACAGTTCTGCAGTCACACTGGCTACATTTCAAGTGACAATCCTATTGGACAGGGCAGATGGAGATCATTTCTGTGACTGCAGAAAGTTCTAATGGAAAGCATTGGTTTAGAG... |
Task1_train_26737 | Gene ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Attention deficit hyperactivity disorder | CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCT... | CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCT... |
Task1_train_26738 | Located on Chromosome 19, this mutation impacts ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Global developmental delay | CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCT... | CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCT... |
Task1_train_26739 | The gene ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Autistic behavior | CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCT... | CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCT... |
Task1_train_26740 | The gene ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Seizure | CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCT... | CTAAAGCCCTCATTTCCCTTCACAGGGTAGAAGGGTGGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCT... |
Task1_train_26741 | This alteration in ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Global developmental delay | GGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGT... | GGGAGAGGGGAGAGTCTGGAAGTGGGCTGCACCCTTCCAAGTTCTCCCTCCTCACTCCCCTGGGGTCCTCTGGGCTCCTCCTCACTACACTTCCCCCAAATAGAGCTGGTGCGTGTGGCTGGTGGGAAACCCTGTCTGTGAACCCTGGCACCTCAGGCCCCCAGGTTAGAGTCCCCTGAGGGGACTGTAGGGCCCATGGCTGAGGGGCACCTGGAGAGAGTGGCCCACCAGCCACTGCCTCCATCTGTCTCCCTCTCCCACCAGAGCCCTGCCCAGGGTTCCCTCCCTGGCCTGGGCCACCAGCCCCTGGTCCATGAGGT... |
Task1_train_26742 | A variant was discovered on Chromosome 19, affecting ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Attention deficit hyperactivity disorder | TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGA... | TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGA... |
Task1_train_26743 | The gene ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Global developmental delay | TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGA... | TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGA... |
Task1_train_26744 | Located on Chromosome 19, this mutation impacts ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autistic behavior | TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGA... | TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGA... |
Task1_train_26745 | This mutation is located in gene ADGRL1, ADGRL1-AS1 (adhesion G protein-coupled receptor L1| ADGRL1 antisense RNA 1) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Intellectual disability | TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGA... | TGCCCAGACTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCTGCCTTTGGGGTTCAAGCAATTCTCCTGCCTCAGCCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACCACACCAGGCTAATTTTTATATTTTTTAAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGTCCGGACTGTATGTTTTTTTAAGATTCAGATTTTAACACATTTATTTTAAAAAGA... |
Task1_train_26746 | A mutation on Chromosome 19 affecting TECR (trans-2,3-enoyl-CoA reductase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Intellectual disability, autosomal recessive 14 | CCTGGGAGGGCGGTGGAGGAGTGAGCCTTGCCCCTGCTGAGGCCGGGCCTGGGGGAAGGGGCTTGCGCTGTCCCTGGGGAGGACAGAGGGCCTTTGCTCCTGGGAGAGTCATGGGTGAGAAGTGGAGAGGAGGGGCAGAGAAGCAGGCTTGCCTTCCCATGCTTAATCCGCCACTAGCCGGGCTGGGGGCCTGCTGGCTGAGGGTAAAAGTGGAGCCCCAGACCCCTGCTGTCACTGCACTGGCAGGGCCCTCGGTGGTCCTTCCCTGACTGCAGGCAGAGGCCTGGACCCCAGCCCTTCCCCCTTCCCATAGCTACAGC... | CCTGGGAGGGCGGTGGAGGAGTGAGCCTTGCCCCTGCTGAGGCCGGGCCTGGGGGAAGGGGCTTGCGCTGTCCCTGGGGAGGACAGAGGGCCTTTGCTCCTGGGAGAGTCATGGGTGAGAAGTGGAGAGGAGGGGCAGAGAAGCAGGCTTGCCTTCCCATGCTTAATCCGCCACTAGCCGGGCTGGGGGCCTGCTGGCTGAGGGTAAAAGTGGAGCCCCAGACCCCTGCTGTCACTGCACTGGCAGGGCCCTCGGTGGTCCTTCCCTGACTGCAGGCAGAGGCCTGGACCCCAGCCCTTCCCCCTTCCCATAGCTACAGC... |
Task1_train_26747 | Here is a genetic alteration in ADGRE2 (adhesion G protein-coupled receptor E2) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Vibratory urticaria | CGGCCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACCACACCCGTCCTAATTTTTTTTTTATTTTTGTAGAGACAGGGTCTTTCTGTGTTGCACAGGCTGGTCTCGAATTCCTGGGCTCAAGTGATCCTCCCGTTTCAGCCTCCCAAAGCACAGAGATTCCAGGTGTGGGCCCGTTAGGTTTTGAAGGGAAAGTGAGAGTTAAAGAAAGACAGAGAGTTGGCAGCTCTACAGCAATGCAGGTTTATGTCCAGCAGGAGACTTGTGGAGGGGGGAGCTAGCTTCGTGCCAGAACCCACTGCCGCTTACAGGCTGGGGTA... | CGGCCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACCACACCCGTCCTAATTTTTTTTTTATTTTTGTAGAGACAGGGTCTTTCTGTGTTGCACAGGCTGGTCTCGAATTCCTGGGCTCAAGTGATCCTCCCGTTTCAGCCTCCCAAAGCACAGAGATTCCAGGTGTGGGCCCGTTAGGTTTTGAAGGGAAAGTGAGAGTTAAAGAAAGACAGAGAGTTGGCAGCTCTACAGCAATGCAGGTTTATGTCCAGCAGGAGACTTGTGGAGGGGGGAGCTAGCTTCGTGCCAGAACCCACTGCCGCTTACAGGCTGGGGTA... |
Task1_train_26748 | Given a variant located on Chromosome 19 and affecting NOTCH3 (notch receptor 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Myofibromatosis, infantile, 2 | CCTCTTTTTTGAGCTAATTCCATTCATCCAATCCTTAGGTCTCCGTGTCCCCAGATTAATTCTTCTGTTCCTTCTCTCCCCACTCCTTTGAGTCCCTCTCATGGCTTCAATGATCATCAACACTTTTATATCTTTCTTGTTTGTGTCTTTAGCCCCCAGGTATCTCCTTGGAGGCCTTCCCAATACTTCCAGGTCCCTCAGACTCTGCAAGCTCCAAAATGACCTGTTTTTCACTTTGTGGCCCTATCACTCAGCTTAGCCAGGGGCTGGTACACCAACCACTCTCCTTCATCCCTCTACCCCTCCCCTTCCACCACCCA... | CCTCTTTTTTGAGCTAATTCCATTCATCCAATCCTTAGGTCTCCGTGTCCCCAGATTAATTCTTCTGTTCCTTCTCTCCCCACTCCTTTGAGTCCCTCTCATGGCTTCAATGATCATCAACACTTTTATATCTTTCTTGTTTGTGTCTTTAGCCCCCAGGTATCTCCTTGGAGGCCTTCCCAATACTTCCAGGTCCCTCAGACTCTGCAAGCTCCAAAATGACCTGTTTTTCACTTTGTGGCCCTATCACTCAGCTTAGCCAGGGGCTGGTACACCAACCACTCTCCTTCATCCCTCTACCCCTCCCCTTCCACCACCCA... |
Task1_train_26749 | Gene NOTCH3 (notch receptor 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | ACAGAAGGGGCAGGGTGTAGGGATGGACAGATGGACTGCCTAGGACAGACAGAGAGAGGGGCAGAAGAGGGGCAGAGATAGTCAGGGGCACCCACAGATAGCCATATAGAGGAGCAAAAAGAGTGCATGGATGGACAGATTCGGCCCAAGGATGGACAAACAGGAGTGGAGGAAGACAGTTGGGTACACAGAGGAACAAAAGCAATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGAGATTTACTCTTGCTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCTCATCCTCCACCTCCCAGGTTCAAGCAAT... | ACAGAAGGGGCAGGGTGTAGGGATGGACAGATGGACTGCCTAGGACAGACAGAGAGAGGGGCAGAAGAGGGGCAGAGATAGTCAGGGGCACCCACAGATAGCCATATAGAGGAGCAAAAAGAGTGCATGGATGGACAGATTCGGCCCAAGGATGGACAAACAGGAGTGGAGGAAGACAGTTGGGTACACAGAGGAACAAAAGCAATTTTTTTTTTTTTTTTTTTTTTTGGTGAGACAGAGATTTACTCTTGCTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACCTCATCCTCCACCTCCCAGGTTCAAGCAAT... |
Task1_train_26750 | This alteration in NOTCH3 (notch receptor 3) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GAGGCGGAGGTTGCAGTGAGCCAAGATGGAGCCATTGCACTCCAGTCTGGGCAAGAGAGCGAGACTCCGTCTTAAAAAAAAAAAAAAAAAAAAAAAGGAATTCGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGTACTGCTTAAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCCACAGAGCAAGACTCCATCTCGGGAAAAAAAAAAAAAAGTAATTATTGGATGGAGAAAAGGGCAGACAAACGGGGCAGAGAAGTGCATAGG... | GAGGCGGAGGTTGCAGTGAGCCAAGATGGAGCCATTGCACTCCAGTCTGGGCAAGAGAGCGAGACTCCGTCTTAAAAAAAAAAAAAAAAAAAAAAAGGAATTCGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGTACTGCTTAAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCCACAGAGCAAGACTCCATCTCGGGAAAAAAAAAAAAAAGTAATTATTGGATGGAGAAAAGGGCAGACAAACGGGGCAGAGAAGTGCATAGG... |
Task1_train_26751 | A mutation in NOTCH3 (notch receptor 3), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | GTCTTAAAAAAAAAAAAAAAAAAAAAAAGGAATTCGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGTACTGCTTAAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCCACAGAGCAAGACTCCATCTCGGGAAAAAAAAAAAAAAGTAATTATTGGATGGAGAAAAGGGCAGACAAACGGGGCAGAGAAGTGCATAGGCAGATAGAAACAAGAACAAGATAGACAGAGCACATGGATGAACAGACACACGGACAGACACGTGGGAC... | GTCTTAAAAAAAAAAAAAAAAAAAAAAAGGAATTCGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGTACTGCTTAAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCCACAGAGCAAGACTCCATCTCGGGAAAAAAAAAAAAAAGTAATTATTGGATGGAGAAAAGGGCAGACAAACGGGGCAGAGAAGTGCATAGGCAGATAGAAACAAGAACAAGATAGACAGAGCACATGGATGAACAGACACACGGACAGACACGTGGGAC... |
Task1_train_26752 | A change on Chromosome 19 affects gene NOTCH3 (notch receptor 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CACGGACAGACACGTGGGACACACCGATGGGCAGATAGAGTGCACAGAGAAACAGACGGGGCAAGTGGATGGGCAGGTGGAAAGAGAGGCAGGGCCCACGGACAAACAGACTGGGATGGATGCATAGACAGACGGATCGATCGGGTGGATGGGCTCACTTGCAAGTGCGCTCGCGGCCACCGGCGTGGCAGTCGAAGTTGTCGTAGAGGCAGGCGGGCGAGCTGCAGGCGGGGTCGCAGCGGCTGTTGTTGAAGAGGCGCCAGCACTGCAGCGCCTCGCATTGCCGCCAGGGGTCGCCCACGCTCAGCGAGCAGTCGCCG... | CACGGACAGACACGTGGGACACACCGATGGGCAGATAGAGTGCACAGAGAAACAGACGGGGCAAGTGGATGGGCAGGTGGAAAGAGAGGCAGGGCCCACGGACAAACAGACTGGGATGGATGCATAGACAGACGGATCGATCGGGTGGATGGGCTCACTTGCAAGTGCGCTCGCGGCCACCGGCGTGGCAGTCGAAGTTGTCGTAGAGGCAGGCGGGCGAGCTGCAGGCGGGGTCGCAGCGGCTGTTGTTGAAGAGGCGCCAGCACTGCAGCGCCTCGCATTGCCGCCAGGGGTCGCCCACGCTCAGCGAGCAGTCGCCG... |
Task1_train_26753 | This variant affects the gene NOTCH3 (notch receptor 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | GAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGA... | GAGCGCGCCACCCGCTCGCAACGCGGACCCCAGAACGGCTGGGGGTCGGGTTTGGGGAGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGA... |
Task1_train_26754 | This variant affects the gene NOTCH3 (notch receptor 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | AGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGC... | AGGGAGGGATAAAAATGAGGGTGGGGAGTGGAGGGAAGGAGGAGAAGAAATGGAGGAGTGGGGAAAAGAAGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGC... |
Task1_train_26755 | Given a variant located on Chromosome 19 and affecting NOTCH3 (notch receptor 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | AGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGC... | AGAGTCAAGGGGAGAGAGGGGGAAGAGAAGAGGTCAAGACTAAGGAAGGTTGAGACCCCCTCAACCTCCCCATGTCCCACCCAACCGCTCCCCTTTCCACACTGGAGACCCCACCTGGCAGATAAGCCCTGCCATCCCAGGAGGCCACGCCCCCCAATCACCATCCTCACCCTTTTCCCTTCAAACCTCCAGGAAATGTCGGGGCAGGGGGTTGTTTCTTTGTTTTTTGAGACGGAGTGTCACTCAGTCGCCAGGCTGGAGTGCAATGGCGTGATGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGC... |
Task1_train_26756 | A change on Chromosome 19 affects gene NOTCH3 (notch receptor 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | GGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCC... | GGAAATGTCAGCATTTTCCAGAAACTCCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCC... |
Task1_train_26757 | A mutation on Chromosome 19 affecting NOTCH3 (notch receptor 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | CCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAG... | CCCTTCCCTTCGATGTCTCCCCTAAAGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAG... |
Task1_train_26758 | This genomic variant is located on Chromosome 19, within the NOTCH3 (notch receptor 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | AGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGA... | AGCCACATCCTCCTCCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGA... |
Task1_train_26759 | Mutation context: Chromosome 19, Gene NOTCH3 (notch receptor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGG... | CCTAGACGCCACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGG... |
Task1_train_26760 | Gene NOTCH3 (notch receptor 3), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGC... | ACGCCCCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGC... |
Task1_train_26761 | This sequence variant lies in NOTCH3 (notch receptor 3) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; NOTCH3-related disorder | CCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCC... | CCTACTACTCCAGAGGCCACGCCCCTACTCCTCCTCCAAAGGCCGCCACCCACACCTACCTGGGCACAGTGACAGGTGAAGGTCAGCCCACCCCCAGGACCCGGGCTAGGACGGCACTGGCCTCCATGCTGGCATGGCTGGGACTCGCAGGGAGACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCC... |
Task1_train_26762 | This mutation occurs in NOTCH3 (notch receptor 3) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | ACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCG... | ACAGGACAGTCTGACAGCGAGGACCTGAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCG... |
Task1_train_26763 | A genomic change on Chromosome 19 affects NOTCH3 (notch receptor 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | GAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCA... | GAGCGAGCGGGAGCATGTAGATCAGCCACAATGGGGGAATGACAGGCGGGGTCCCAGGCCAGCCCCTTCGCCAACGCTTACCTGAGAAGCCAGCATGACAAAGGCAACGGAAACCTCCGCCTGGGTCCTGCAGGCAGTCCCGGGTGTGTGCCGCGTGGCAGGCACCTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCA... |
Task1_train_26764 | An alteration has been detected in NOTCH3 (notch receptor 3) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | CTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGC... | CTGAGCGACACTCATTGATGTCTGCCTCGCAGCGCAAACCAGTGTATCCTGGGGGACAGGTGCAGCGGAAACCACCCACCAGGTCCACGCAGGTGCCATTGTGTAGGCACCGGGGCCCTGAGTCCAGCGGTGGGCCTGGGCCGCAGTCATCCTCATTAATCTCGCAGAGCACCCCTGGGGGAAGAAACGAGGGGTGGTCAAGAGGGAATGAAGACAGCCTCTCATCCTGTCCCCCCAACCCTGGCCCTGGCATACCCAGCGTTCCTGGGGGACAGGAGCAGAGATAGCGGGCCACGAGGTCAATGCATGAACCCCCGTGC... |
Task1_train_26765 | Here is a variant affecting NOTCH3 (notch receptor 3) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | ACAGGCAGCTGGCCAGGGGCAGACTCGCAGCGGCCCCCATGCTCACAGGGGTTCGGGGTGCAGGGGGAGAGGAGTTCACACTGACGTCCTGTTGGGGGTGGAAGAGAGGGAAGCAGAGATAGCCTTGAGGGACTCCCTGATCCCATCTCCCCCCACCTCCCCCAACCCCAGGGTCCCCACCTTGATACCCACCTCCCAAGCTCCTGGAGGGAAATGATTGAAAGCAAAAAAGAAGCTAACATAGCGGGAGGAGAGAGTAGAGGAGAAGAGAGATGAGAAGGCCCATGGTGTTGGTGGGGCTGCAGAGGGAAGGTGAGGTA... | ACAGGCAGCTGGCCAGGGGCAGACTCGCAGCGGCCCCCATGCTCACAGGGGTTCGGGGTGCAGGGGGAGAGGAGTTCACACTGACGTCCTGTTGGGGGTGGAAGAGAGGGAAGCAGAGATAGCCTTGAGGGACTCCCTGATCCCATCTCCCCCCACCTCCCCCAACCCCAGGGTCCCCACCTTGATACCCACCTCCCAAGCTCCTGGAGGGAAATGATTGAAAGCAAAAAAGAAGCTAACATAGCGGGAGGAGAGAGTAGAGGAGAAGAGAGATGAGAAGGCCCATGGTGTTGGTGGGGCTGCAGAGGGAAGGTGAGGTA... |
Task1_train_26766 | The variant affects gene NOTCH3 (notch receptor 3), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | AAGAAGCTAACATAGCGGGAGGAGAGAGTAGAGGAGAAGAGAGATGAGAAGGCCCATGGTGTTGGTGGGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGC... | AAGAAGCTAACATAGCGGGAGGAGAGAGTAGAGGAGAAGAGAGATGAGAAGGCCCATGGTGTTGGTGGGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGC... |
Task1_train_26767 | Consider this mutation in NOTCH3 (notch receptor 3) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | GGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCG... | GGGCTGCAGAGGGAAGGTGAGGTACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCG... |
Task1_train_26768 | Gene NOTCH3 (notch receptor 3) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | ACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAG... | ACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAG... |
Task1_train_26769 | Here is a variant affecting NOTCH3 (notch receptor 3) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | ACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAG... | ACACACCCTGGACACCAGGCGGGCAGGTGCAGTGGAAACCCATTCCATCGCTGCTGCATGTCCCACCGGCCCTGCACGGCTGGGACTCACAGGCGTCTCGGGCCAGGCTCTGGCTGCAGCGGGGGCCACTCCAGCCAGGCTCACACACACAGCGGAACCTGGCAGGGGAAGGTAGTCAGGCCAGGGAGGTGGGCCAGGGAGAGGGGGCAGTGTCTGAGGCTGAGAAGGGCCCTCACCCGCCAGGTGCATCATAGCAGATGCCGTGACTGCAGGGCTCATGGGCACAGGGATGGCTCGGGGGGAGGCAGAGTGGGGGCAAG... |
Task1_train_26770 | Gene NOTCH3 (notch receptor 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | GAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCA... | GAGCTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCA... |
Task1_train_26771 | The gene NOTCH3 (notch receptor 3), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | CTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTA... | CTGACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTA... |
Task1_train_26772 | Located on Chromosome 19, this mutation impacts NOTCH3 (notch receptor 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | ACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGT... | ACTTGCCCCAGATCATTCTGGTCCCCAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGT... |
Task1_train_26773 | Consider this mutation in NOTCH3 (notch receptor 3) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTG... | CAAACTTCCATGAAGTCCCTTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTG... |
Task1_train_26774 | The gene NOTCH3 (notch receptor 3) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATG... | TTTCTTTTTCTTTTCTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATG... |
Task1_train_26775 | Mutation context: Chromosome 19, Gene NOTCH3 (notch receptor 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAA... | CTTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAA... |
Task1_train_26776 | This mutation is located in gene NOTCH3 (notch receptor 3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAA... | TTCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAA... |
Task1_train_26777 | Gene NOTCH3 (notch receptor 3) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | TCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAG... | TCTTCTTCTTATTTTTTGAGATGGGGTCTCACTCTGTCGCCCGGGCTGGACTGCAGTGGCATGATCATAGCTCACCACAGCCTCCACTTCCTGGGCTCAAGCGATTCTCCCACCTCAGCCTCCCGAGTGGCTGGGACTACAGTTGCGCACCACCACGTCTGGCTAATTGTGTGTGCATGTGTGTGCGTGTTTATCTACGTATTGACTAATCTGGCTTTGGGAGTGTGTTTATTTTTTGTAGAGACAGGGTTTCATTATGTTGCCCAGGCTAGTCTCGAACTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAG... |
Task1_train_26778 | Given this variant in gene NOTCH3 (notch receptor 3) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | CTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAG... | CTCCTGGGCTCAAGTGATCCTCATGTCTCAGCCTCCCAAAGTGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAG... |
Task1_train_26779 | Here is a mutation in NOTCH3 (notch receptor 3) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | TGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAG... | TGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAG... |
Task1_train_26780 | The gene NOTCH3 (notch receptor 3), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAG... | TGCTGGGGGATTACAGACATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAG... |
Task1_train_26781 | This genomic variant is located on Chromosome 19, within the NOTCH3 (notch receptor 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | ATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCC... | ATGAGCCAACACACCTAGCAAAGTCACATTCATTTCCACTAAGGATTAGTTTAGACCCATTCAGAAATAACCTAGTCACTGAGTTTGGACACTTTCATCTATGTTCCAGAATAATCTTTTTGTTTGTTTTTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAAATGAAGTCTCACTCTGTCGCCCAGACTGGAGTACAGTGGCACAATCTTGGCTCACTGCCGCCTCCGCCTCCTGAGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACACCC... |
Task1_train_26782 | A variant has been detected on Chromosome 19 in NOTCH3 (notch receptor 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGA... | GCACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGA... |
Task1_train_26783 | Given a variant located on Chromosome 19 and affecting NOTCH3 (notch receptor 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGAC... | CACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGAC... |
Task1_train_26784 | This genomic variant is located on Chromosome 19, within the NOTCH3 (notch receptor 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | CACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGAC... | CACAGTCGTCAATGTTCACTTCGCAGTTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGAC... |
Task1_train_26785 | This mutation is located in gene NOTCH3 (notch receptor 3) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAG... | TTCACACCTAGGGGCCAGGAACATGGCATGGAGTGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAG... |
Task1_train_26786 | A genetic alteration is present in NOTCH3 (notch receptor 3) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCA... | TGGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCA... |
Task1_train_26787 | Here is a variant affecting NOTCH3 (notch receptor 3) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | GGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAA... | GGCCACCACTGTGCCCCACTAGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAA... |
Task1_train_26788 | This variant affects the gene NOTCH3 (notch receptor 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | AGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGG... | AGATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGG... |
Task1_train_26789 | A genetic alteration is present in NOTCH3 (notch receptor 3) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | GATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGT... | GATGCACCATTCCCAAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGT... |
Task1_train_26790 | Given this variant in gene NOTCH3 (notch receptor 3) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | AAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCAC... | AAACCCTCTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCAC... |
Task1_train_26791 | This gene mutation involves NOTCH3 (notch receptor 3) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAG... | CTGTGCCCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAG... |
Task1_train_26792 | Chromosome 19 houses a mutation in gene NOTCH3 (notch receptor 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCT... | CCCTCCAGGTGTGCTGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCT... |
Task1_train_26793 | This gene mutation involves NOTCH3 (notch receptor 3) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | TGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGG... | TGTTTCTGCCCCAGCCCCCGGTCCCACCTGTGGTCCCAGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGG... |
Task1_train_26794 | The gene NOTCH3 (notch receptor 3) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | AGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCC... | AGAAGGGCAGCGGCAGAGGTACTTGTCCACCAGGTCTAGGCATTTGCCGCCATGGCGGCAGGGCTGGCTGCGGCATTCGTCCACCTGGCTCTCGCAGCGTGTGCCCGTGTAGCCAGGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCC... |
Task1_train_26795 | Given a variant located on Chromosome 19 and affecting NOTCH3 (notch receptor 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | GGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCC... | GGAGCACAGGCACATGAGAAGCTGGCGATGCCATCCACGCAGCGACCATGGTGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCC... |
Task1_train_26796 | A variant affecting Chromosome 19, within the gene NOTCH3 (notch receptor 3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | TGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGC... | TGGCATGGGTCAGGGGAGCAGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGC... |
Task1_train_26797 | A variant on Chromosome 19 in gene NOTCH3 (notch receptor 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | AGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGAT... | AGTCGTCCACGTTGCGATCACACAGCGTGCCCTCAAAGCCTGTGGGGCCAAGAGGGTCAGGCTCCGCCCACTTGCCAGGGGCCTGCCCACAAGTGAGGCCTCGGACCAATCCTGGTTCAGCTCTATCTGAGGCCCTGCCCATCAAGCTGTCAGGAGGCGAGCTCAATACAGGCCCCACCCCCCACCCCCCACTTACTTCCACTCCACCCCACTACAAGCTCCAGAATTTGTCCCTAGCCAAGACTCTCCCACAGTTAAATCCCGCCCCCAGCTGTGGCCCCACCTCCAGCCCTGTTTCTGCCCCACCCTCCACTGGAGAT... |
Task1_train_26798 | A mutation on Chromosome 19 affecting NOTCH3 (notch receptor 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | AGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAG... | AGGCGTCATCCAGGTGACACAGGAGGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAG... |
Task1_train_26799 | With a mutation on Chromosome 19 in gene NOTCH3 (notch receptor 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | GGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCC... | GGCCTGGGAAGTGGTAAGCAGAAGTCATAGGCAGATCTTCCTGCTCTGCCCAAAAGGCCCACACCCCTTGAGTATTGTTTTGTCGTTGTTGTTGTTTTGTTTTGTTTTTTGAGACGAAGTTTCGCTCTTGTTGCCCAAGCTGGAGTACAATAGCGCGATCTTGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCAAGTTAGCCAGGTTGGTCTCAAACTCC... |
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