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_700 | The gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | GCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATG... | GCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATG... |
Task1_train_701 | A change on Chromosome 1 affects gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | AGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAA... | AGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAA... |
Task1_train_702 | Here’s a variant in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | TGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAG... | TGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAG... |
Task1_train_703 | This sequence variant lies in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | GGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGC... | GGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGC... |
Task1_train_704 | An alteration has been detected in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Rare genetic deafness | TCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCA... | TCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCA... |
Task1_train_705 | Here’s a variant in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | AGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCT... | AGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCT... |
Task1_train_706 | This alteration in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Nonsyndromic genetic hearing loss | AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGG... | AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGG... |
Task1_train_707 | A sequence alteration has been identified in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; not provided | AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGG... | AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGG... |
Task1_train_708 | Gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | CAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCG... | CAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCG... |
Task1_train_709 | This sequence change occurs on Chromosome 1, altering KCNQ4 (potassium voltage-gated channel subfamily Q member 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | TCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGG... | TCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGG... |
Task1_train_710 | The variant affects gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | CACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGT... | CACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGT... |
Task1_train_711 | Chromosome 1 houses a mutation in gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A | TAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGT... | TAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGT... |
Task1_train_712 | Consider a variant on Chromosome 1 in gene CCDC30, PPCS (coiled-coil domain containing 30| phosphopantothenoylcysteine synthetase). Determine its clinical classification and disease relevance. | Pathogenic; Cardiomyopathy, dilated, 2c | CCCTCTCAAAATGCAGCTCAAATGTTTCTTCCACAGGGAAAGCTTTCCACATACTGCCCCATTCACTATCGTCTCACTCTCGTTGCCCAAGCTGGAGTGCAGTGGCGCGATCTCCGCTCACTGCGAGCTCCGCCTCCCGGGTTCAAGCGATTCTTCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCAGCACCACTCCCGCCTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCGCCCGCCTCGGCCTCCCGAAGTGCTGGGATT... | CCCTCTCAAAATGCAGCTCAAATGTTTCTTCCACAGGGAAAGCTTTCCACATACTGCCCCATTCACTATCGTCTCACTCTCGTTGCCCAAGCTGGAGTGCAGTGGCGCGATCTCCGCTCACTGCGAGCTCCGCCTCCCGGGTTCAAGCGATTCTTCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCAGCACCACTCCCGCCTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCGCCCGCCTCGGCCTCCCGAAGTGCTGGGATT... |
Task1_train_713 | Chromosome 1 houses a mutation in gene CCDC30, PPCS (coiled-coil domain containing 30| phosphopantothenoylcysteine synthetase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TGAATTGAACTGGGTTTTAAAAGATGAGCAGAACCGAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCATTGCACTCCAGCCCGGGCGACGAGAGCGATACTCCGTCGCAAAA... | TGAATTGAACTGGGTTTTAAAAGATGAGCAGAACCGAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCATTGCACTCCAGCCCGGGCGACGAGAGCGATACTCCGTCGCAAAA... |
Task1_train_714 | This variant lies on Chromosome 1 and affects the gene CLDN19 (claudin 19). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Renal hypomagnesemia 5 with ocular involvement | CCCTGCCATGTTTTTTCCCAGTCACATTCTGGCCCACAGAACTCCCAGCCAAGACTGCTCCCGCTGCCCTCTGGAGAAGGCCAGACCCTTCCACCTGGCACTCTGGGCTCTCCACACCCAGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCC... | CCCTGCCATGTTTTTTCCCAGTCACATTCTGGCCCACAGAACTCCCAGCCAAGACTGCTCCCGCTGCCCTCTGGAGAAGGCCAGACCCTTCCACCTGGCACTCTGGGCTCTCCACACCCAGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCC... |
Task1_train_715 | Mutation context: Chromosome 1, Gene CLDN19 (claudin 19). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Renal hypomagnesemia 5 with ocular involvement | AGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGG... | AGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGG... |
Task1_train_716 | Here is a mutation in CLDN19 (claudin 19) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | CTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTA... | CTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTA... |
Task1_train_717 | Consider a variant on Chromosome 1 in gene CLDN19 (claudin 19). Determine its clinical classification and disease relevance. | Pathogenic; Renal hypomagnesemia 5 with ocular involvement | TATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCC... | TATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCC... |
Task1_train_718 | Gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Encephalopathy due to GLUT1 deficiency | CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAG... | CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAG... |
Task1_train_719 | This sequence change occurs on Chromosome 1, altering SLC2A1 (solute carrier family 2 member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAG... | CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAG... |
Task1_train_720 | A variant affecting Chromosome 1, within the gene SLC2A1 (solute carrier family 2 member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | GGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACG... | GGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACG... |
Task1_train_721 | This alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Encephalopathy due to GLUT1 deficiency | ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGG... | ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGG... |
Task1_train_722 | The following genetic variant occurs in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not specified | ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGG... | ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGG... |
Task1_train_723 | This mutation is located in gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | CTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAA... | CTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAA... |
Task1_train_724 | The gene SLC2A1 (solute carrier family 2 member 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | ATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGC... | ATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGC... |
Task1_train_725 | This alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGT... | GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGT... |
Task1_train_726 | This mutation occurs in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Encephalopathy due to GLUT1 deficiency | GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGT... | GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGT... |
Task1_train_727 | Given this variant in gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTC... | AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTC... |
Task1_train_728 | A sequence alteration has been identified in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTC... | AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTC... |
Task1_train_729 | Consider a variant on Chromosome 1 in gene SLC2A1 (solute carrier family 2 member 1). Determine its clinical classification and disease relevance. | Pathogenic; Encephalopathy due to GLUT1 deficiency | AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTC... | AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTC... |
Task1_train_730 | This variant affects gene SLC2A1 (solute carrier family 2 member 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Dystonia 9 | AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTC... | AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTC... |
Task1_train_731 | The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | ACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATT... | ACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATT... |
Task1_train_732 | Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Self-limited epilepsy with centrotemporal spikes | TCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGT... | TCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGT... |
Task1_train_733 | This variant affects the gene SLC2A1 (solute carrier family 2 member 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | AGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGC... | AGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGC... |
Task1_train_734 | A variant affecting Chromosome 1, within the gene SLC2A1 (solute carrier family 2 member 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | AACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCT... | AACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCT... |
Task1_train_735 | Given this variant in gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Dystonia 9 | AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGC... | AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGC... |
Task1_train_736 | A mutation on Chromosome 1 affecting SLC2A1 (solute carrier family 2 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Encephalopathy due to GLUT1 deficiency | AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGC... | AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGC... |
Task1_train_737 | A mutation found in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGC... | AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGC... |
Task1_train_738 | This variant lies on Chromosome 1 and affects the gene SLC2A1 (solute carrier family 2 member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | CAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATG... | CAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATG... |
Task1_train_739 | The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Encephalopathy due to GLUT1 deficiency | CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGC... | CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGC... |
Task1_train_740 | Consider this mutation in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; GLUT1 deficiency syndrome | CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGC... | CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGC... |
Task1_train_741 | This is a variant in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGC... | CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGC... |
Task1_train_742 | A mutation in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Intellectual disability | GCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACA... | GCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACA... |
Task1_train_743 | A mutation on Chromosome 1 affecting SLC2A1 (solute carrier family 2 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | ACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGA... | ACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGA... |
Task1_train_744 | A genomic change on Chromosome 1 affects SLC2A1 (solute carrier family 2 member 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGA... | TCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGA... |
Task1_train_745 | Given a variant located on Chromosome 1 and affecting SLC2A1 (solute carrier family 2 member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | AGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCT... | AGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCT... |
Task1_train_746 | This alteration occurs within gene SLC2A1 (solute carrier family 2 member 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Encephalopathy due to GLUT1 deficiency | CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAG... | CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAG... |
Task1_train_747 | A genetic alteration is present in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAG... | CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAG... |
Task1_train_748 | Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hereditary cryohydrocytosis with reduced stomatin | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... |
Task1_train_749 | The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 12 | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... |
Task1_train_750 | Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Dystonia 9 | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... |
Task1_train_751 | Assess the clinical impact of this variant on gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Encephalopathy due to GLUT1 deficiency | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... |
Task1_train_752 | Chromosome 1 houses a mutation in gene SLC2A1 (solute carrier family 2 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Childhood onset GLUT1 deficiency syndrome 2 | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... |
Task1_train_753 | The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... |
Task1_train_754 | The variant affects gene SLC2A1 (solute carrier family 2 member 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Encephalopathy due to GLUT1 deficiency | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... | GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCT... |
Task1_train_755 | This genomic variant is located on Chromosome 1, within the SLC2A1 (solute carrier family 2 member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCAC... | ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCAC... |
Task1_train_756 | Assess the clinical impact of this variant on gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Encephalopathy due to GLUT1 deficiency | ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCAC... | ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCAC... |
Task1_train_757 | Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | TTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCC... | TTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCC... |
Task1_train_758 | A genomic change on Chromosome 1 affects SLC2A1 (solute carrier family 2 member 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Dystonia 9 | AAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCA... | AAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCA... |
Task1_train_759 | Assess the clinical impact of this variant on gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Childhood onset GLUT1 deficiency syndrome 2 | CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACC... | CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACC... |
Task1_train_760 | The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACC... | CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACC... |
Task1_train_761 | This is a variant in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Encephalopathy due to GLUT1 deficiency | CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACC... | CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACC... |
Task1_train_762 | A variant found in Chromosome 1 affects SLC2A1 (solute carrier family 2 member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | TGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATG... | TGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATG... |
Task1_train_763 | Gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATG... | ATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATG... |
Task1_train_764 | A mutation on Chromosome 1 affecting SLC2A1 (solute carrier family 2 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGG... | TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGG... |
Task1_train_765 | This mutation occurs in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Encephalopathy due to GLUT1 deficiency | TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGG... | TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGG... |
Task1_train_766 | A mutation in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGG... | TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGG... |
Task1_train_767 | A mutation found in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACC... | CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACC... |
Task1_train_768 | Here is a genetic alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACC... | CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACC... |
Task1_train_769 | Chromosome 1 houses a mutation in gene SLC2A1 (solute carrier family 2 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Encephalopathy due to GLUT1 deficiency | CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACC... | CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACC... |
Task1_train_770 | With a mutation on Chromosome 1 in gene SLC2A1 (solute carrier family 2 member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACC... | CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACC... |
Task1_train_771 | Given this context: Chromosome 1, gene SLC2A1 (solute carrier family 2 member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; GLUT1 deficiency syndrome | CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACC... | CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACC... |
Task1_train_772 | A mutation in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | CGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTG... | CGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTG... |
Task1_train_773 | This variant affects the gene SLC2A1 (solute carrier family 2 member 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGC... | GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGC... |
Task1_train_774 | Given a variant located on Chromosome 1 and affecting SLC2A1 (solute carrier family 2 member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Seizure | GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGC... | GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGC... |
Task1_train_775 | Located on Chromosome 1, this mutation impacts SLC2A1 (solute carrier family 2 member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Encephalopathy due to GLUT1 deficiency | GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGC... | GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGC... |
Task1_train_776 | Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; SLC2A1-related disorder | GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGC... | GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGC... |
Task1_train_777 | Mutation context: Chromosome 1, Gene SLC2A1 (solute carrier family 2 member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Encephalopathy due to GLUT1 deficiency | GGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCA... | GGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCA... |
Task1_train_778 | A variant was discovered on Chromosome 1, affecting SLC2A1 (solute carrier family 2 member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | GCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTA... | GCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTA... |
Task1_train_779 | A variant has been detected on Chromosome 1 in SLC2A1 (solute carrier family 2 member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Childhood onset GLUT1 deficiency syndrome 2 | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... |
Task1_train_780 | Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Encephalopathy due to GLUT1 deficiency | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... |
Task1_train_781 | The variant affects gene SLC2A1 (solute carrier family 2 member 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... |
Task1_train_782 | A variant has been detected on Chromosome 1 in SLC2A1 (solute carrier family 2 member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Dystonia 9 | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... |
Task1_train_783 | Consider this mutation in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Encephalopathy due to GLUT1 deficiency | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... |
Task1_train_784 | A variant was discovered in gene SLC2A1 (solute carrier family 2 member 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Childhood onset GLUT1 deficiency syndrome 2 | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... |
Task1_train_785 | Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 12 | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... |
Task1_train_786 | Chromosome 1 houses a mutation in gene SLC2A1 (solute carrier family 2 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hereditary cryohydrocytosis with reduced stomatin | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... | GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCT... |
Task1_train_787 | This variant affects the gene SLC2A1 (solute carrier family 2 member 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; SLC2A1-related disorder | AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGA... | AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGA... |
Task1_train_788 | This alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Encephalopathy due to GLUT1 deficiency | AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGA... | AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGA... |
Task1_train_789 | A change on Chromosome 1 affects gene SLC2A1 (solute carrier family 2 member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive | AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGA... | AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGA... |
Task1_train_790 | Here is a genetic alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Inborn genetic diseases | AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAG... | AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAG... |
Task1_train_791 | A sequence alteration has been identified in SLC2A1, SLC2A1-DT (solute carrier family 2 member 1| SLC2A1 divergent transcript) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Encephalopathy due to GLUT1 deficiency | AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAG... | AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAG... |
Task1_train_792 | An alteration has been detected in SLC2A1, SLC2A1-DT (solute carrier family 2 member 1| SLC2A1 divergent transcript) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dystonia 9 | AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAG... | AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAG... |
Task1_train_793 | This alteration occurs within gene TIE1 (tyrosine kinase with immunoglobulin like and EGF like domains 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Lymphatic malformation 11 | CTGGAAAGGACATCCCGTGCCCCAGAAACTGGGGACACTCTCCAGCCCCGCCCTTCCTCCTGCCCAGCCATGCTGTCCCCCACCAACCGTCACACACAGACAAGTATACCTTTAACTCTGCTCTGGGATGCTGCCTCCCATCTCTGAGTCACCCCACAGACACTCAGTGCTAGCCCAGGGGAGCATATGGGGCTATGGAGCTCAGAGGGTGACCAGCTTGGCTTCCTAGAAGTGGTGCATGCCTAGAAATCTTCCAGGTAAATAAGGAGGGACCTCCCAGTGCCCAAGATTACTCAGACCAGAGCACCCCCACCTGCTCT... | CTGGAAAGGACATCCCGTGCCCCAGAAACTGGGGACACTCTCCAGCCCCGCCCTTCCTCCTGCCCAGCCATGCTGTCCCCCACCAACCGTCACACACAGACAAGTATACCTTTAACTCTGCTCTGGGATGCTGCCTCCCATCTCTGAGTCACCCCACAGACACTCAGTGCTAGCCCAGGGGAGCATATGGGGCTATGGAGCTCAGAGGGTGACCAGCTTGGCTTCCTAGAAGTGGTGCATGCCTAGAAATCTTCCAGGTAAATAAGGAGGGACCTCCCAGTGCCCAAGATTACTCAGACCAGAGCACCCCCACCTGCTCT... |
Task1_train_794 | This variant affects the gene LOC126805720, TIE1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:43786614-43787813| tyrosine kinase with immunoglobulin like and EGF like domains 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Lymphatic malformation 11 | GGTGTGACACAGGTGTGTCTTGGGTATAAAGTACCTAGCCAAGGTGGGGCTTGCTGGAAGGAGTCTTGGAAGGTGTTTCAGGAATAGGACTGGGGTAAAGGTAGTTTCGGATTATGTTTGTGTAAGTGACGGGGGATGCCTTGGAGAGGTTTGGGAATGCTGGCGGATGCTTCCTGAGGTAGATGGAGAGGCCACTCAGGAATTGCTCTCATCTTCCTCCCTGAAGGGCAAGGTCATGCCCACCTGAGGATCTTACCAGAGCATGACCCCCAAGACTCCCTCTCTGTGCCCCCTCCCCTGCAGACAGCCCTCTTGGCACA... | GGTGTGACACAGGTGTGTCTTGGGTATAAAGTACCTAGCCAAGGTGGGGCTTGCTGGAAGGAGTCTTGGAAGGTGTTTCAGGAATAGGACTGGGGTAAAGGTAGTTTCGGATTATGTTTGTGTAAGTGACGGGGGATGCCTTGGAGAGGTTTGGGAATGCTGGCGGATGCTTCCTGAGGTAGATGGAGAGGCCACTCAGGAATTGCTCTCATCTTCCTCCCTGAAGGGCAAGGTCATGCCCACCTGAGGATCTTACCAGAGCATGACCCCCAAGACTCCCTCTCTGTGCCCCCTCCCCTGCAGACAGCCCTCTTGGCACA... |
Task1_train_795 | Given this context: Chromosome 1, gene MPL (MPL proto-oncogene, thrombopoietin receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Congenital amegakaryocytic thrombocytopenia | GTCAAGCCTCCTAGAATTGGCATAAAATCCACATACAGAGCAGTCCCAGGAGGAGGCTTGGGGTTCAGTGACAGGAGATGAGCACAGGCTGAAGAGCTGAGACCAGCCATCCACTGAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGCGTACCGTGGTGCAATCTTGGGTCACTGCAACCTCTGCCCCCTGGGTTTAAGAGATTCTCATGCCTCAGCCTTCTGAGTCGCTGGGACTACAGGCAAGCACTACCACGCCTAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCAC... | GTCAAGCCTCCTAGAATTGGCATAAAATCCACATACAGAGCAGTCCCAGGAGGAGGCTTGGGGTTCAGTGACAGGAGATGAGCACAGGCTGAAGAGCTGAGACCAGCCATCCACTGAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGCGTACCGTGGTGCAATCTTGGGTCACTGCAACCTCTGCCCCCTGGGTTTAAGAGATTCTCATGCCTCAGCCTTCTGAGTCGCTGGGACTACAGGCAAGCACTACCACGCCTAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCAC... |
Task1_train_796 | A genomic change on Chromosome 1 affects MPL (MPL proto-oncogene, thrombopoietin receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Congenital amegakaryocytic thrombocytopenia 1 | CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAG... | CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAG... |
Task1_train_797 | A mutation on Chromosome 1 affecting MPL (MPL proto-oncogene, thrombopoietin receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Congenital amegakaryocytic thrombocytopenia | CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAG... | CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAG... |
Task1_train_798 | Chromosome 1 houses a mutation in gene MPL (MPL proto-oncogene, thrombopoietin receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Essential thrombocythemia | CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAG... | CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAG... |
Task1_train_799 | This sequence variant lies in MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Congenital amegakaryocytic thrombocytopenia 1 | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... | TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGG... |
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