ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
|---|---|---|---|---|
Task1_train_20400 | This variant affects gene INF2 (inverted formin 2) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Focal segmental glomerulosclerosis 5 | GGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAG... | GGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAG... |
Task1_train_20401 | Gene INF2 (inverted formin 2) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | GGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAG... | GGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAG... |
Task1_train_20402 | Consider this mutation in INF2 (inverted formin 2) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Focal segmental glomerulosclerosis 5 | ACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTG... | ACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTG... |
Task1_train_20403 | Consider a variant on Chromosome 14 in gene INF2 (inverted formin 2). Determine its clinical classification and disease relevance. | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | ACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTG... | ACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTG... |
Task1_train_20404 | Gene INF2 (inverted formin 2) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | GCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGA... | GCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGA... |
Task1_train_20405 | A genetic alteration is present in INF2 (inverted formin 2) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Focal segmental glomerulosclerosis | GCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGG... | GCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGG... |
Task1_train_20406 | A mutation on Chromosome 14 affecting INF2 (inverted formin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Focal segmental glomerulosclerosis 5 | TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTG... | TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTG... |
Task1_train_20407 | This gene mutation involves INF2 (inverted formin 2) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTG... | TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTG... |
Task1_train_20408 | The following genetic variant occurs in INF2 (inverted formin 2) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Focal segmental glomerulosclerosis 5 | TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTG... | TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTG... |
Task1_train_20409 | Consider a variant on Chromosome 14 in gene INF2 (inverted formin 2). Determine its clinical classification and disease relevance. | Pathogenic; Focal segmental glomerulosclerosis 5 | GGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGG... | GGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGG... |
Task1_train_20410 | A variant on Chromosome 14 in gene INF2 (inverted formin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; INF2-related disorder | GGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGG... | GGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGG... |
Task1_train_20411 | The gene INF2 (inverted formin 2), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCG... | AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCG... |
Task1_train_20412 | The variant affects gene INF2 (inverted formin 2), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Focal segmental glomerulosclerosis 5 | AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCG... | AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCG... |
Task1_train_20413 | A mutation on Chromosome 14 affecting INF2 (inverted formin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCG... | AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCG... |
Task1_train_20414 | The gene INF2 (inverted formin 2) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Focal segmental glomerulosclerosis 5 | AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCG... | AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCG... |
Task1_train_20415 | The gene INF2 (inverted formin 2) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Kidney disorder | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... |
Task1_train_20416 | The gene INF2 (inverted formin 2), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Focal segmental glomerulosclerosis 5 | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... |
Task1_train_20417 | This gene mutation involves INF2 (inverted formin 2) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... |
Task1_train_20418 | A variant has been detected on Chromosome 14 in INF2 (inverted formin 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Focal segmental glomerulosclerosis 5 | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... |
Task1_train_20419 | Consider this mutation in INF2 (inverted formin 2) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... |
Task1_train_20420 | The following genetic variant occurs in INF2 (inverted formin 2) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... | CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCG... |
Task1_train_20421 | A mutation on Chromosome 14 affecting ADSS1 (adenylosuccinate synthase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Myopathy, distal, 5 | TGCCTTCCCCAGCTCACAAAGCCTAGTGGTCTGGTGTGTTCAGGAAGAGCGCTCGCCGGCTCGGGTGGCATTGTGGGCCAGGCCTTGCCCATTGTGAGCCTCAGCTGCTGGACAGGCTTACCAGGGGTGTGGGGATGTCCGGGAGCTGGATGTAAGGACTGTCGGTGGAGGCGGGGCACCCTCAGGGATTCTGAGAGCTGTGTGCAGGGAGGAGGGGGAGCAGCAGGGCCAGGCTGCACAAGGCTCCCACGACAGCTCACATGACGTCCTCCCTGTTCTCATGTAGGAGATTGGAGGCCTGCTGCAGACCCGCGGCCACG... | TGCCTTCCCCAGCTCACAAAGCCTAGTGGTCTGGTGTGTTCAGGAAGAGCGCTCGCCGGCTCGGGTGGCATTGTGGGCCAGGCCTTGCCCATTGTGAGCCTCAGCTGCTGGACAGGCTTACCAGGGGTGTGGGGATGTCCGGGAGCTGGATGTAAGGACTGTCGGTGGAGGCGGGGCACCCTCAGGGATTCTGAGAGCTGTGTGCAGGGAGGAGGGGGAGCAGCAGGGCCAGGCTGCACAAGGCTCCCACGACAGCTCACATGACGTCCTCCCTGTTCTCATGTAGGAGATTGGAGGCCTGCTGCAGACCCGCGGCCACG... |
Task1_train_20422 | Here’s a variant in AKT1 (AKT serine/threonine kinase 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cowden syndrome 6 | ACCTGGGCCCCAGCCTGTCCCCTCCCGCCCCCTGCAGCCCCTCCTCCCACCGCCTGCAGCCCCTCCTCCCGCTCTGTCCAGCTTCGAACAGGCCACTCAGGCCTCCCAGCCTTACTTCCACCGTGGCCCAGGCCATGACCTTGGCCCCAACTCTGGGCCCTGCCCTATCTGTCCTTCCTGGTGGTCTGTCTCATTCACTGCCCTACCCAGGGGAACAGCACCTGGGGCTGGGGGGCAGATGGCCACGTGGTCCAATGGTCTCCTTCATGGCTGGGGTGAAGCTGGGTGGGGTCAAGGGAAGAAGAGGTGGATCCCAACGG... | ACCTGGGCCCCAGCCTGTCCCCTCCCGCCCCCTGCAGCCCCTCCTCCCACCGCCTGCAGCCCCTCCTCCCGCTCTGTCCAGCTTCGAACAGGCCACTCAGGCCTCCCAGCCTTACTTCCACCGTGGCCCAGGCCATGACCTTGGCCCCAACTCTGGGCCCTGCCCTATCTGTCCTTCCTGGTGGTCTGTCTCATTCACTGCCCTACCCAGGGGAACAGCACCTGGGGCTGGGGGGCAGATGGCCACGTGGTCCAATGGTCTCCTTCATGGCTGGGGTGAAGCTGGGTGGGGTCAAGGGAAGAAGAGGTGGATCCCAACGG... |
Task1_train_20423 | A variant was discovered in gene AKT1 (AKT serine/threonine kinase 1), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cowden syndrome 6 | GGTACCCACCCGTGTGCCTCTCCAGAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGC... | GGTACCCACCCGTGTGCCTCTCCAGAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGC... |
Task1_train_20424 | A variant found in Chromosome 14 affects AKT1 (AKT serine/threonine kinase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Proteus syndrome | GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAG... | GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAG... |
Task1_train_20425 | With a mutation on Chromosome 14 in gene AKT1 (AKT serine/threonine kinase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cowden syndrome 6 | GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAG... | GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAG... |
Task1_train_20426 | An alteration has been detected in AKT1 (AKT serine/threonine kinase 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neoplasm | GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAG... | GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAG... |
Task1_train_20427 | A variant found in Chromosome 14 affects ZBTB42 (zinc finger and BTB domain containing 42). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Lethal congenital contracture syndrome 6 | GCCCCCGCGCAGTGCCCTAAACCCCCCTCACACCCCAGCGCCCCTGCTGGCTGCGCGCGGGGCCCGGCCGGGTGGGGCGGACAGGGAAGGGGGGGCGAGGGTGACCTCAGCGGTTCCGCCGCTCCGGGAAGTCGCTCGGCCCGCCCCCTCCGGCCCCCGCCCCGAGTTTCGCTCTCTCTGGGGCGGGGCGAGCGGCGGGCGGCGCTGGGCCAGCCAAGTTGGAGCGCGCCCCGCCCGGCGCCCTCGCCGTCCCCGCGCCCTCCCCGCCGGGGCGCGCTGCCCGCAGCTCCACGCGCGCCAGGGCCGCCCTGGGGAGGGCG... | GCCCCCGCGCAGTGCCCTAAACCCCCCTCACACCCCAGCGCCCCTGCTGGCTGCGCGCGGGGCCCGGCCGGGTGGGGCGGACAGGGAAGGGGGGGCGAGGGTGACCTCAGCGGTTCCGCCGCTCCGGGAAGTCGCTCGGCCCGCCCCCTCCGGCCCCCGCCCCGAGTTTCGCTCTCTCTGGGGCGGGGCGAGCGGCGGGCGGCGCTGGGCCAGCCAAGTTGGAGCGCGCCCCGCCCGGCGCCCTCGCCGTCCCCGCGCCCTCCCCGCCGGGGCGCGCTGCCCGCAGCTCCACGCGCGCCAGGGCCGCCCTGGGGAGGGCG... |
Task1_train_20428 | With a mutation on Chromosome 14 in gene BRF1 (BRF1 general transcription factor IIIB subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Cerebellar-facial-dental syndrome | GCACATCGAACTCCTGGGTTCAAGTGATCCTCCGGCCTCAGCCTCCCGAGGAGCTGGGACTACAGGTGCACACTCCCATGCCCAGCTAATTTTTTTATTTTTTGTAGAGATGGGGTCTCACTATGCTGACCAGGCTGGTCTTGAACTCTGCTCAAGCAGTCCTCCTGTATTTGCCTCCCAAAGTGCTGCGATTACAGGCATGAACCACCATGCTTGACCCACTCCCTAGTCTTAGACTGCTTTCTTCTGAATGTGTTCCAATACAAGATTCCTGGCTAGCACTGAGTCCCGGAGGGGTCCCCATGGTGAGGAATGGCTCC... | GCACATCGAACTCCTGGGTTCAAGTGATCCTCCGGCCTCAGCCTCCCGAGGAGCTGGGACTACAGGTGCACACTCCCATGCCCAGCTAATTTTTTTATTTTTTGTAGAGATGGGGTCTCACTATGCTGACCAGGCTGGTCTTGAACTCTGCTCAAGCAGTCCTCCTGTATTTGCCTCCCAAAGTGCTGCGATTACAGGCATGAACCACCATGCTTGACCCACTCCCTAGTCTTAGACTGCTTTCTTCTGAATGTGTTCCAATACAAGATTCCTGGCTAGCACTGAGTCCCGGAGGGGTCCCCATGGTGAGGAATGGCTCC... |
Task1_train_20429 | A mutation found in BRF1 (BRF1 general transcription factor IIIB subunit) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cerebellar-facial-dental syndrome | GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCA... | GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCA... |
Task1_train_20430 | A variant was discovered in gene LOC130056709, NIPA1 (ATAC-STARR-seq lymphoblastoid silent region 6259| NIPA magnesium transporter 1), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary spastic paraplegia 6 | CACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACTGCAACCTCCACCTCAAGCCATCCTCCCACCTCTGCCTCCAGAGTATCTGGGGTTGGAGGTAAAAGCCACCACGCCCCGCTAATTAATTTTTTTCTTTTTTTGGTAGAGACGGG... | CACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACTGCAACCTCCACCTCAAGCCATCCTCCCACCTCTGCCTCCAGAGTATCTGGGGTTGGAGGTAAAAGCCACCACGCCCCGCTAATTAATTTTTTTCTTTTTTTGGTAGAGACGGG... |
Task1_train_20431 | A variant found in Chromosome 15 affects NIPA1 (NIPA magnesium transporter 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hereditary spastic paraplegia 6 | GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGG... | GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGG... |
Task1_train_20432 | Given this context: Chromosome 15, gene NIPA1 (NIPA magnesium transporter 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary spastic paraplegia | GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGG... | GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGG... |
Task1_train_20433 | This variant affects the gene NIPA1 (NIPA magnesium transporter 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 6 | GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGG... | GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGG... |
Task1_train_20434 | Mutation context: Chromosome 15, Gene NIPA1 (NIPA magnesium transporter 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary spastic paraplegia 6 | CTTTAAAACAAAACATCCCTTTCAATATGTAAATGCTCAGGTCCCACTATAAGAGAAGACCTATTGAAGCTGGCCGACCCCACACCTTGTGAGGAGTGGTTGAGAATCTGGTAGCTGCAGATATAGACTGACGTGGGGGTGTAATGTTATTGACTGGGACACTTGAGGTCTTGCTATCAACAAAATGATCCTCAGATGGAGCATAACTCTTAATGAAGTTTTGATCAAAGAACAATCCTCCCTCAATTTACATGGAAGTGACATGTCTGAAGAATTCAGCATATATTAAATCCATGCAAAAATTACTTTGTTTCATACAT... | CTTTAAAACAAAACATCCCTTTCAATATGTAAATGCTCAGGTCCCACTATAAGAGAAGACCTATTGAAGCTGGCCGACCCCACACCTTGTGAGGAGTGGTTGAGAATCTGGTAGCTGCAGATATAGACTGACGTGGGGGTGTAATGTTATTGACTGGGACACTTGAGGTCTTGCTATCAACAAAATGATCCTCAGATGGAGCATAACTCTTAATGAAGTTTTGATCAAAGAACAATCCTCCCTCAATTTACATGGAAGTGACATGTCTGAAGAATTCAGCATATATTAAATCCATGCAAAAATTACTTTGTTTCATACAT... |
Task1_train_20435 | A genomic change on Chromosome 15 affects MKRN3 (makorin ring finger protein 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Precocious puberty, central, 2 | GCAGTCATGATACGTACTCTCAGCAAAGTAGGAATACAAAAAAATGATTAATCTACTACATTTATCTGCAAAAATGACAAAACGCTCATACATGGAAATTAAAGACCATTCCTTTGTGGATAATATGGCACAGGATATGTTATGAAAGGCTGTCCTGCCACAACACAGCACAGATGGGGTTGAAAGAAAGGAAGGGAAACAAAGGGCTGCCATGAATTAAACCAGTAGAGAAAATAAAAGCCTGGGTCATGCAGGGGACAGTGTCTTATTAGGCCAGCATCAGGACTGGTTGAAGTCTGGCGCTTCTAACACAGTGGGAA... | GCAGTCATGATACGTACTCTCAGCAAAGTAGGAATACAAAAAAATGATTAATCTACTACATTTATCTGCAAAAATGACAAAACGCTCATACATGGAAATTAAAGACCATTCCTTTGTGGATAATATGGCACAGGATATGTTATGAAAGGCTGTCCTGCCACAACACAGCACAGATGGGGTTGAAAGAAAGGAAGGGAAACAAAGGGCTGCCATGAATTAAACCAGTAGAGAAAATAAAAGCCTGGGTCATGCAGGGGACAGTGTCTTATTAGGCCAGCATCAGGACTGGTTGAAGTCTGGCGCTTCTAACACAGTGGGAA... |
Task1_train_20436 | A variant was discovered on Chromosome 15, affecting MKRN3 (makorin ring finger protein 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Precocious puberty, central, 2 | TTGTGGATAATATGGCACAGGATATGTTATGAAAGGCTGTCCTGCCACAACACAGCACAGATGGGGTTGAAAGAAAGGAAGGGAAACAAAGGGCTGCCATGAATTAAACCAGTAGAGAAAATAAAAGCCTGGGTCATGCAGGGGACAGTGTCTTATTAGGCCAGCATCAGGACTGGTTGAAGTCTGGCGCTTCTAACACAGTGGGAAAATGAGCATAGTAATCACAATAAAGAAAGACATCTGAAAGGTGCTAACTTAGCCTCGGATCAGAAGTGCTCTCTGCTAATGCCTTGCTGGTGAAAAGCGTATCCAGTGTAAGC... | TTGTGGATAATATGGCACAGGATATGTTATGAAAGGCTGTCCTGCCACAACACAGCACAGATGGGGTTGAAAGAAAGGAAGGGAAACAAAGGGCTGCCATGAATTAAACCAGTAGAGAAAATAAAAGCCTGGGTCATGCAGGGGACAGTGTCTTATTAGGCCAGCATCAGGACTGGTTGAAGTCTGGCGCTTCTAACACAGTGGGAAAATGAGCATAGTAATCACAATAAAGAAAGACATCTGAAAGGTGCTAACTTAGCCTCGGATCAGAAGTGCTCTCTGCTAATGCCTTGCTGGTGAAAAGCGTATCCAGTGTAAGC... |
Task1_train_20437 | The gene MAGEL2 (MAGE family member L2) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Schaaf-Yang syndrome | CGAGCGCTTCAAGGTAATGGAATGGCCAGCTCTGTGGATCTTTCTTATGGAGCTTGGCCAAAAACCTCAGGACAAGCATCTTGCTGGTTTCCAGGAATGCTCGAGGGCCCCAGAGGAACTCATACTCTGCGGGCTCAGTGTAAGGGATTCGCCTGTACTCTAGGTACTTCTGCCTGACAAACACTTCGGTGATGAGCTTCTTAGTATTTCCAAAGAGACCGTTTGTCTCCCGGACATCCAACCCTAACTTGAACAGAAAATTAAAGATCAGATCCTCCCTGACACAGTTGCCTTTCATAAAGATGAGGCTCAAGACCACC... | CGAGCGCTTCAAGGTAATGGAATGGCCAGCTCTGTGGATCTTTCTTATGGAGCTTGGCCAAAAACCTCAGGACAAGCATCTTGCTGGTTTCCAGGAATGCTCGAGGGCCCCAGAGGAACTCATACTCTGCGGGCTCAGTGTAAGGGATTCGCCTGTACTCTAGGTACTTCTGCCTGACAAACACTTCGGTGATGAGCTTCTTAGTATTTCCAAAGAGACCGTTTGTCTCCCGGACATCCAACCCTAACTTGAACAGAAAATTAAAGATCAGATCCTCCCTGACACAGTTGCCTTTCATAAAGATGAGGCTCAAGACCACC... |
Task1_train_20438 | Given this context: Chromosome 15, gene MAGEL2 (MAGE family member L2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Schaaf-Yang syndrome | GTTTTTCCAGGCAGCTGGCAGGTGTGCTCGCGCAGCTGACACTGCCTTGGGAGCACAGAAGGTGGCAGCAAAGATCATGCGGTCTTTTGAAGGGGCCCTGCGCTCCTTCGAGGAGGTCCTGCGCTCTTTAGAGGAGCCCCTGCGGTCTATAGAAGAGGCCCTGCATTCTCCTGATGGAGTCATCAATGATTTAGCGGAGCCCAGGGGAAAATTTGCCGCTGCTACCGGGGGTCCGGGCTGGGCCTGCAAGACTGCAGGCGGTGCCTGCCAGGAAGGCTGGAGCGGCAGTGTGGGCACCTCCGCTTGCGGACCCGATGCCT... | GTTTTTCCAGGCAGCTGGCAGGTGTGCTCGCGCAGCTGACACTGCCTTGGGAGCACAGAAGGTGGCAGCAAAGATCATGCGGTCTTTTGAAGGGGCCCTGCGCTCCTTCGAGGAGGTCCTGCGCTCTTTAGAGGAGCCCCTGCGGTCTATAGAAGAGGCCCTGCATTCTCCTGATGGAGTCATCAATGATTTAGCGGAGCCCAGGGGAAAATTTGCCGCTGCTACCGGGGGTCCGGGCTGGGCCTGCAAGACTGCAGGCGGTGCCTGCCAGGAAGGCTGGAGCGGCAGTGTGGGCACCTCCGCTTGCGGACCCGATGCCT... |
Task1_train_20439 | Given this variant in gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Angelman syndrome | AACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCATTGTCTTCTTTTTCCACTAAATTA... | AACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCATTGTCTTCTTTTTCCACTAAATTA... |
Task1_train_20440 | An alteration has been detected in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Global developmental delay | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... |
Task1_train_20441 | Assess the clinical impact of this variant on gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Poor speech | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... |
Task1_train_20442 | A genomic change on Chromosome 15 affects SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; EEG abnormality | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... |
Task1_train_20443 | An alteration has been detected in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Abnormal corpus callosum morphology | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... |
Task1_train_20444 | This mutation is located in gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Expressive language delay | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... |
Task1_train_20445 | Here is a genetic alteration in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Seizure | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... | GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAA... |
Task1_train_20446 | This variant affects gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Angelman syndrome | TGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAA... | TGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAA... |
Task1_train_20447 | This variant affects the gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Angelman syndrome | TAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTAT... | TAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTAT... |
Task1_train_20448 | Here is a genetic alteration in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Angelman syndrome | TGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCT... | TGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCT... |
Task1_train_20449 | Gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Angelman syndrome | AATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAA... | AATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAA... |
Task1_train_20450 | This variant affects gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Angelman syndrome | GTTAATTTTACACTAACACCTAAGGCTTTAAAAGCAGTTGTTTCCTTAAAATTCTAGAATAGAATTTAAAATATAGAATAAAGTATATACCAAGTACTTAAACTTTTGTTTTTAGTCTTGCTTTACTAGAGAAAAAAATGGGGGACTGAGGAAAATAAGACTGAGTAGACTTCTGAGCGAAAGACAGATAAGGAAGGTAGACAATTTTTTGAACCCTGGAATGATTCTTACAGTGTAATTTCATTGCCTTTTAAAGGCTAGACATAGCTTTTGATGAAGACAGCTGAAGGGATCTCACCTCAAGAAGCCAAACATAAAGT... | GTTAATTTTACACTAACACCTAAGGCTTTAAAAGCAGTTGTTTCCTTAAAATTCTAGAATAGAATTTAAAATATAGAATAAAGTATATACCAAGTACTTAAACTTTTGTTTTTAGTCTTGCTTTACTAGAGAAAAAAATGGGGGACTGAGGAAAATAAGACTGAGTAGACTTCTGAGCGAAAGACAGATAAGGAAGGTAGACAATTTTTTGAACCCTGGAATGATTCTTACAGTGTAATTTCATTGCCTTTTAAAGGCTAGACATAGCTTTTGATGAAGACAGCTGAAGGGATCTCACCTCAAGAAGCCAAACATAAAGT... |
Task1_train_20451 | Here is a mutation in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Angelman syndrome | TCTGCTAGAAAACCACCTGAGTTGCTTAAATAATGCAGAATCTTTCTCCAACACTATAAACATATCTGACATTAAAAAAAAAAAACAAACCAGTAACAAAAAAAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTT... | TCTGCTAGAAAACCACCTGAGTTGCTTAAATAATGCAGAATCTTTCTCCAACACTATAAACATATCTGACATTAAAAAAAAAAAACAAACCAGTAACAAAAAAAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTT... |
Task1_train_20452 | The following genetic variant occurs in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Angelman syndrome | AAAAAAACAAACCAGTAACAAAAAAAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAAT... | AAAAAAACAAACCAGTAACAAAAAAAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAAT... |
Task1_train_20453 | Given this variant in gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Angelman syndrome | AACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGT... | AACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGT... |
Task1_train_20454 | Mutation context: Chromosome 15, Gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Angelman syndrome | CAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTG... | CAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTG... |
Task1_train_20455 | The gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Angelman syndrome | GTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTC... | GTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTC... |
Task1_train_20456 | Given this variant in gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Angelman syndrome | TCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCT... | TCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCT... |
Task1_train_20457 | A variant has been detected on Chromosome 15 in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Angelman syndrome | AGTAGAGAGGGGGTTTCACCACGTTGGCCAGGTTGGTCTCGATCTCTTGACGTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGTAGTGTTTAATATGTTAAACTGAATTTTTCAGGTATATAGATAAAAATTAGTCAAAAAACACTGTAATTAGATATGAACATTCAAAAAGTTTGGTTTATTGATACAGGTGTTCTACTGAGAAAGACATTTTTATAAGATTTCTTGTGATAAATGTGTCCCTGAAAATACTCAATCTTTTAAATTTTGCACTTAAAAACCT... | AGTAGAGAGGGGGTTTCACCACGTTGGCCAGGTTGGTCTCGATCTCTTGACGTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGTAGTGTTTAATATGTTAAACTGAATTTTTCAGGTATATAGATAAAAATTAGTCAAAAAACACTGTAATTAGATATGAACATTCAAAAAGTTTGGTTTATTGATACAGGTGTTCTACTGAGAAAGACATTTTTATAAGATTTCTTGTGATAAATGTGTCCCTGAAAATACTCAATCTTTTAAATTTTGCACTTAAAAACCT... |
Task1_train_20458 | This is a variant in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Angelman syndrome | ACTACAATGACTACTATTGAAGTACACACACACACACACTCTCACACAATATGTGATGGCAAGGATGTAGAGAAACTGGACCCCTTGTGCACTAGTGGTAGAAACGCAAATAGGTACAGTTGCTCTGGAAGAGTATGGCAGTTTCTCAAAATTTTAAAAATAAAATTACCATATGATCCAACAATTCCACTTCTGGGAAAACAATTCAAAGCAGGGTCTCAAAAAGATATTTGTACACTCCTGTTCATAGCAACATTATCTGTAATAGCTACAACATGGAAGCAACCTGAGCGCTCATCAACAGGTAAATGGATAAGCAA... | ACTACAATGACTACTATTGAAGTACACACACACACACACTCTCACACAATATGTGATGGCAAGGATGTAGAGAAACTGGACCCCTTGTGCACTAGTGGTAGAAACGCAAATAGGTACAGTTGCTCTGGAAGAGTATGGCAGTTTCTCAAAATTTTAAAAATAAAATTACCATATGATCCAACAATTCCACTTCTGGGAAAACAATTCAAAGCAGGGTCTCAAAAAGATATTTGTACACTCCTGTTCATAGCAACATTATCTGTAATAGCTACAACATGGAAGCAACCTGAGCGCTCATCAACAGGTAAATGGATAAGCAA... |
Task1_train_20459 | Gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 43 | CCAGGCAGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACC... | CCAGGCAGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACC... |
Task1_train_20460 | This variant lies on Chromosome 15 and affects the gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Epilepsy, childhood absence, susceptibility to, 1 | AGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAA... | AGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAA... |
Task1_train_20461 | A sequence alteration has been identified in GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Epilepsy, childhood absence, susceptibility to, 5 | AGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAA... | AGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAA... |
Task1_train_20462 | A sequence alteration has been identified in GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Developmental and epileptic encephalopathy, 43 | TGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGA... | TGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGA... |
Task1_train_20463 | Gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurodevelopmental delay | CCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCAT... | CCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCAT... |
Task1_train_20464 | Located on Chromosome 15, this mutation impacts GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Epilepsy, childhood absence, susceptibility to, 5 | CCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCT... | CCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCT... |
Task1_train_20465 | Gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epilepsy, childhood absence, susceptibility to, 1 | CCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCT... | CCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCT... |
Task1_train_20466 | This alteration occurs within gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Developmental and epileptic encephalopathy, 43 | TTGAATGTAACTCACTTCCGGGGTATTAACGATTTAATACTGTAGAAGGCAATACTTTACAATTAGGGAGGGACAGAATCTGTAATGGCTGGGAAATTCAGATATGCACATTTTCAGTACACCCCACCCCTTGTGATGTCAGATAATCATGGTTCCTTGGTACTCATATTTCACTAACTATCGCAGTGACGGCAAATTCTCTGTAGCAGATGCTTCAGATCGGTCTCCACTTTCATACGCCTCTTCTAGGCTTGGGGAGGGGTCCCAGCAACTTTGTATTTGTATATTTCATATTATTTTTCTTAAAAGGGGGTGCTTGA... | TTGAATGTAACTCACTTCCGGGGTATTAACGATTTAATACTGTAGAAGGCAATACTTTACAATTAGGGAGGGACAGAATCTGTAATGGCTGGGAAATTCAGATATGCACATTTTCAGTACACCCCACCCCTTGTGATGTCAGATAATCATGGTTCCTTGGTACTCATATTTCACTAACTATCGCAGTGACGGCAAATTCTCTGTAGCAGATGCTTCAGATCGGTCTCCACTTTCATACGCCTCTTCTAGGCTTGGGGAGGGGTCCCAGCAACTTTGTATTTGTATATTTCATATTATTTTTCTTAAAAGGGGGTGCTTGA... |
Task1_train_20467 | This variant affects the gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 43 | AAAGTGCAAGCTTTTGAAAGTTGGGAGATTTTGTAACTGACTGATGTGGAGCTCTTGCGCTACACCCAATAAATGCAGGACTCAGTATGTGCTGGAAGGAAGACATGATACTGCATTCTGGTAGCCCCATGGGTCTGTGAATAGTTTAAGTGTTCTGCCACATACCTGTAGTGCCTATTTTCTCCAGACATTTTTAGGATGTGTTCTACCACATACAGACTGAAAAGAAAGATGGGGATTGCACCTGGAGGAAGGTGGTTCTAAGTGCTTTCAAGTTAGTGGATTCAGGAAGTCATTCTAAGTGGCTGTGGTCCCCCACG... | AAAGTGCAAGCTTTTGAAAGTTGGGAGATTTTGTAACTGACTGATGTGGAGCTCTTGCGCTACACCCAATAAATGCAGGACTCAGTATGTGCTGGAAGGAAGACATGATACTGCATTCTGGTAGCCCCATGGGTCTGTGAATAGTTTAAGTGTTCTGCCACATACCTGTAGTGCCTATTTTCTCCAGACATTTTTAGGATGTGTTCTACCACATACAGACTGAAAAGAAAGATGGGGATTGCACCTGGAGGAAGGTGGTTCTAAGTGCTTTCAAGTTAGTGGATTCAGGAAGTCATTCTAAGTGGCTGTGGTCCCCCACG... |
Task1_train_20468 | Consider this mutation in GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Developmental and epileptic encephalopathy, 43 | GGGTCTGTGAATAGTTTAAGTGTTCTGCCACATACCTGTAGTGCCTATTTTCTCCAGACATTTTTAGGATGTGTTCTACCACATACAGACTGAAAAGAAAGATGGGGATTGCACCTGGAGGAAGGTGGTTCTAAGTGCTTTCAAGTTAGTGGATTCAGGAAGTCATTCTAAGTGGCTGTGGTCCCCCACGGAAGCAGCATACCCTCTACAAACACCTCACCTGGCTTTCTAATGAGGCTGCATGAAAATGCAGTAAGAAATCCTCATAGCAGCACGCTCATGGCCATTTCTGCAACTTTCTAGGCAAAGGCTGCATGGGC... | GGGTCTGTGAATAGTTTAAGTGTTCTGCCACATACCTGTAGTGCCTATTTTCTCCAGACATTTTTAGGATGTGTTCTACCACATACAGACTGAAAAGAAAGATGGGGATTGCACCTGGAGGAAGGTGGTTCTAAGTGCTTTCAAGTTAGTGGATTCAGGAAGTCATTCTAAGTGGCTGTGGTCCCCCACGGAAGCAGCATACCCTCTACAAACACCTCACCTGGCTTTCTAATGAGGCTGCATGAAAATGCAGTAAGAAATCCTCATAGCAGCACGCTCATGGCCATTTCTGCAACTTTCTAGGCAAAGGCTGCATGGGC... |
Task1_train_20469 | A mutation on Chromosome 15 affecting GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Epilepsy, childhood absence, susceptibility to, 5 | CCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGA... | CCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGA... |
Task1_train_20470 | A variant on Chromosome 15 in gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Epilepsy, childhood absence, susceptibility to, 1 | CCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGA... | CCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGA... |
Task1_train_20471 | A variant affecting Chromosome 15, within the gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Epilepsy, childhood absence, susceptibility to, 1 | ATTCTTACTCACAGGTGGAAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACTTCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGATATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACTAGCATGGCACATGTATACATATGTAACTAACCTGCACATTATGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAATAAATAAATAAAAAATAAAGAATGCAAAAATAAAAGTGGAGAAAACTGAAATAGCATGTTTTGTTTAAAAAGCCAAAAA... | ATTCTTACTCACAGGTGGAAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACTTCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGATATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACTAGCATGGCACATGTATACATATGTAACTAACCTGCACATTATGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAATAAATAAATAAAAAATAAAGAATGCAAAAATAAAAGTGGAGAAAACTGAAATAGCATGTTTTGTTTAAAAAGCCAAAAA... |
Task1_train_20472 | A mutation in GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Epilepsy, childhood absence, susceptibility to, 5 | ATTCTTACTCACAGGTGGAAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACTTCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGATATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACTAGCATGGCACATGTATACATATGTAACTAACCTGCACATTATGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAATAAATAAATAAAAAATAAAGAATGCAAAAATAAAAGTGGAGAAAACTGAAATAGCATGTTTTGTTTAAAAAGCCAAAAA... | ATTCTTACTCACAGGTGGAAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACTTCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGATATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACTAGCATGGCACATGTATACATATGTAACTAACCTGCACATTATGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAATAAATAAATAAAAAATAAAGAATGCAAAAATAAAAGTGGAGAAAACTGAAATAGCATGTTTTGTTTAAAAAGCCAAAAA... |
Task1_train_20473 | This sequence variant lies in GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Developmental and epileptic encephalopathy, 79 | TTGTTTCAGGAAGGTGTGGAGGTTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTC... | TTGTTTCAGGAAGGTGTGGAGGTTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTC... |
Task1_train_20474 | Here is a variant affecting GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | TTGTTTCAGGAAGGTGTGGAGGTTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTC... | TTGTTTCAGGAAGGTGTGGAGGTTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTC... |
Task1_train_20475 | This variant impacts the gene GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Developmental and epileptic encephalopathy, 79 | TTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTCATGCAGGGAATGACGTTCATGG... | TTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTCATGCAGGGAATGACGTTCATGG... |
Task1_train_20476 | A mutation found in GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental and epileptic encephalopathy, 79 | GTGTGGCCCGCCTCCCTCAAGCTCCCGCACGGTTTCCCCAGGGGGTCCTCATGCCCCTGCCCCTGGCCTGGTTTTGGTTCACCTGTTTCACCTGTTTCCCCTGACGCCTGCTCCACGCTTGGGCTTTCTGCTTTTTATCTTTTCTTTATTCTTAATGGTTGACTTATTTTCTTTACTCTCTTGTGTTTTTCAAGTTTTAATTAATGAGACTATATTACTTTAGTAGTGGAACACAGGTTGTCTAACATTTTATTGTGCACATTTTTAAACATACAGCAATGTTTAAAGAGGTTTACGGTGAAAACCTGTCTGCTGTTAAC... | GTGTGGCCCGCCTCCCTCAAGCTCCCGCACGGTTTCCCCAGGGGGTCCTCATGCCCCTGCCCCTGGCCTGGTTTTGGTTCACCTGTTTCACCTGTTTCCCCTGACGCCTGCTCCACGCTTGGGCTTTCTGCTTTTTATCTTTTCTTTATTCTTAATGGTTGACTTATTTTCTTTACTCTCTTGTGTTTTTCAAGTTTTAATTAATGAGACTATATTACTTTAGTAGTGGAACACAGGTTGTCTAACATTTTATTGTGCACATTTTTAAACATACAGCAATGTTTAAAGAGGTTTACGGTGAAAACCTGTCTGCTGTTAAC... |
Task1_train_20477 | This variant affects the gene OCA2 (OCA2 melanosomal transmembrane protein) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Inborn genetic diseases | TCACTTCACTTCCTTCCCACAGGTTTTCTGCCTTAGGATTGCACCTGCCAGTAACACCTTAGCACGTGCACTTGCCTCCACCTCTGCTTTCCAGGAAACTCAGGCAAAGGCAGGTTTTTCTGAAGGCTTATTTGAATAGTTCTTAGCTCTTCATGAAAAGAGCAACCAAAAAATACTGGGGTCAGACCAGTTAAAAAAAAAAAAAGTTGTTTCAAAGTATCCAGTGAATCACCTCCAATTTATAGAGCAAATGACATTTCTAAAACCAAATGAAAACTTCTATTTAAAGTGTTCCTCAGAATGCCAGCCCTGGAGGATGG... | TCACTTCACTTCCTTCCCACAGGTTTTCTGCCTTAGGATTGCACCTGCCAGTAACACCTTAGCACGTGCACTTGCCTCCACCTCTGCTTTCCAGGAAACTCAGGCAAAGGCAGGTTTTTCTGAAGGCTTATTTGAATAGTTCTTAGCTCTTCATGAAAAGAGCAACCAAAAAATACTGGGGTCAGACCAGTTAAAAAAAAAAAAAGTTGTTTCAAAGTATCCAGTGAATCACCTCCAATTTATAGAGCAAATGACATTTCTAAAACCAAATGAAAACTTCTATTTAAAGTGTTCCTCAGAATGCCAGCCCTGGAGGATGG... |
Task1_train_20478 | The gene OCA2 (OCA2 melanosomal transmembrane protein), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | TCACTTCACTTCCTTCCCACAGGTTTTCTGCCTTAGGATTGCACCTGCCAGTAACACCTTAGCACGTGCACTTGCCTCCACCTCTGCTTTCCAGGAAACTCAGGCAAAGGCAGGTTTTTCTGAAGGCTTATTTGAATAGTTCTTAGCTCTTCATGAAAAGAGCAACCAAAAAATACTGGGGTCAGACCAGTTAAAAAAAAAAAAAGTTGTTTCAAAGTATCCAGTGAATCACCTCCAATTTATAGAGCAAATGACATTTCTAAAACCAAATGAAAACTTCTATTTAAAGTGTTCCTCAGAATGCCAGCCCTGGAGGATGG... | TCACTTCACTTCCTTCCCACAGGTTTTCTGCCTTAGGATTGCACCTGCCAGTAACACCTTAGCACGTGCACTTGCCTCCACCTCTGCTTTCCAGGAAACTCAGGCAAAGGCAGGTTTTTCTGAAGGCTTATTTGAATAGTTCTTAGCTCTTCATGAAAAGAGCAACCAAAAAATACTGGGGTCAGACCAGTTAAAAAAAAAAAAAGTTGTTTCAAAGTATCCAGTGAATCACCTCCAATTTATAGAGCAAATGACATTTCTAAAACCAAATGAAAACTTCTATTTAAAGTGTTCCTCAGAATGCCAGCCCTGGAGGATGG... |
Task1_train_20479 | Here is a genetic alteration in OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Tyrosinase-positive oculocutaneous albinism | GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAG... | GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAG... |
Task1_train_20480 | A variant was discovered in gene OCA2 (OCA2 melanosomal transmembrane protein), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAG... | GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAG... |
Task1_train_20481 | The gene OCA2 (OCA2 melanosomal transmembrane protein) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAG... | GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAG... |
Task1_train_20482 | Here is a variant affecting OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | AACTGTATTCCATTAAAATATATGCCAATCAAACTTTTCTCCTAGTCAACCTAACCTATCTTGATAAATATGCAGTATCTGGATCCCCAGATAAAATCACCTGAACACAAGCCCTAACTAAAAACAAAACAGGATTTAAAAGCAGAAAATAAACATGTCCATCATTCACAGATGTAACAACCACACAAAAGGAGATGAGACATTTTGTAAAAAAAACGTAGACTTGCAGGCTAAAAGTTTCATAGTAACCAAGATTTTTTAAGTCCATATAGTTAAAGATGTGACTTTAAGTATTAAAGTATTGTTTTTAATACAAAGAC... | AACTGTATTCCATTAAAATATATGCCAATCAAACTTTTCTCCTAGTCAACCTAACCTATCTTGATAAATATGCAGTATCTGGATCCCCAGATAAAATCACCTGAACACAAGCCCTAACTAAAAACAAAACAGGATTTAAAAGCAGAAAATAAACATGTCCATCATTCACAGATGTAACAACCACACAAAAGGAGATGAGACATTTTGTAAAAAAAACGTAGACTTGCAGGCTAAAAGTTTCATAGTAACCAAGATTTTTTAAGTCCATATAGTTAAAGATGTGACTTTAAGTATTAAAGTATTGTTTTTAATACAAAGAC... |
Task1_train_20483 | An alteration has been detected in OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCA... | AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCA... |
Task1_train_20484 | Gene OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Tyrosinase-positive oculocutaneous albinism | AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCA... | AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCA... |
Task1_train_20485 | A genetic alteration is present in OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Oculocutaneous albinism | AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCA... | AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCA... |
Task1_train_20486 | A variant was discovered on Chromosome 15, affecting OCA2 (OCA2 melanosomal transmembrane protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Tyrosinase-positive oculocutaneous albinism | AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCA... | AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCA... |
Task1_train_20487 | Gene OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Tyrosinase-positive oculocutaneous albinism | TTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGG... | TTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGG... |
Task1_train_20488 | A genetic alteration is present in OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | TTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGG... | TTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGG... |
Task1_train_20489 | Gene OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Tyrosinase-positive oculocutaneous albinism | ACTAAAAAAAAAAAAAAATACAAAAAATTAGCTGGGTGGGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGACGGGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGAGACAGAGCGAGACTCTGTCTCAAAAAAAAAAGTCCGAACTTGAACAAAAATATGAATTAACCTTTCTGTCCTTCAGTTTTCTCACCTTACCTGTGAATGTTCTATACTTTGTCAGGTTATGAAAATGCAATATAATTATTCAAATTACAATACTCAGTAAACAGGA... | ACTAAAAAAAAAAAAAAATACAAAAAATTAGCTGGGTGGGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGACGGGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGAGACAGAGCGAGACTCTGTCTCAAAAAAAAAAGTCCGAACTTGAACAAAAATATGAATTAACCTTTCTGTCCTTCAGTTTTCTCACCTTACCTGTGAATGTTCTATACTTTGTCAGGTTATGAAAATGCAATATAATTATTCAAATTACAATACTCAGTAAACAGGA... |
Task1_train_20490 | A variant affecting Chromosome 15, within the gene OCA2 (OCA2 melanosomal transmembrane protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | AGCCTGGCAGCCGGTTGCTCTATCTCCCCTTCCCCCTGCGGGAAAGTCCTGCCCAGGAGGGTGGCATGTCCTGGGAACTTCATGAGGGGGGCCAGGAACACAGGGCAAGTCTTGGCTTTCTTCATCCTGGAGAAGTAATGCAGAGGTCGAGGCACAAGAATGAGAAACAAAGTCTGTCAACATCACACAGCTCTTCGGTTCTCTCACATGGAGATACTTTACAGCTCAGGCACGGTTTTAAAGTGATGAAGAAAATACAAACACGTGCACACGCACTCAGCTGACATCAGCACCGCCCTGACCCCAGTGGAAGTGGAGTG... | AGCCTGGCAGCCGGTTGCTCTATCTCCCCTTCCCCCTGCGGGAAAGTCCTGCCCAGGAGGGTGGCATGTCCTGGGAACTTCATGAGGGGGGCCAGGAACACAGGGCAAGTCTTGGCTTTCTTCATCCTGGAGAAGTAATGCAGAGGTCGAGGCACAAGAATGAGAAACAAAGTCTGTCAACATCACACAGCTCTTCGGTTCTCTCACATGGAGATACTTTACAGCTCAGGCACGGTTTTAAAGTGATGAAGAAAATACAAACACGTGCACACGCACTCAGCTGACATCAGCACCGCCCTGACCCCAGTGGAAGTGGAGTG... |
Task1_train_20491 | A mutation found in HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Developmental delay with autism spectrum disorder and gait instability | TGCAAAAGTAAATATTTTTATTTTTATGGTGAAAACTAAGCTGAAAACTTTGCAAAAACTTAAAGTGAATTGCTAAAAAACAGAATTGTTAGGCTGGGCATGGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCTGTCTGTACTAAAAATACAGAAATTAGCCAGGCATGGTGGTGAATATCTATAATCCAGCTGAGGCATGAGAATTGCTTGACCCCGGGAGGTGGAGTTTGCGGCGAGCCGAGATTGCACC... | TGCAAAAGTAAATATTTTTATTTTTATGGTGAAAACTAAGCTGAAAACTTTGCAAAAACTTAAAGTGAATTGCTAAAAAACAGAATTGTTAGGCTGGGCATGGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCTGTCTGTACTAAAAATACAGAAATTAGCCAGGCATGGTGGTGAATATCTATAATCCAGCTGAGGCATGAGAATTGCTTGACCCCGGGAGGTGGAGTTTGCGGCGAGCCGAGATTGCACC... |
Task1_train_20492 | This variant lies on Chromosome 15 and affects the gene ENTREP2, NSMCE3 (endosomal transmembrane epsin interactor 2| NSE3 homolog, SMC5-SMC6 complex component). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Lung damage, immunodeficiency and chromosome breakage syndrome | TGCTAACACCTCTGAGAAAAGCGGGGGGAATTTTGCCTCAGATATAACTGGTGGTGACTGCTGGGTAATAATTTTTATTATACAGGTGAGAATGCGAGTATCAGAGGGCATGAGGAGGAGAAAGCTGAGTCAGGGAGGTAAGGGGACCAGGAGGCAGGAAGGAGTTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAAT... | TGCTAACACCTCTGAGAAAAGCGGGGGGAATTTTGCCTCAGATATAACTGGTGGTGACTGCTGGGTAATAATTTTTATTATACAGGTGAGAATGCGAGTATCAGAGGGCATGAGGAGGAGAAAGCTGAGTCAGGGAGGTAAGGGGACCAGGAGGCAGGAAGGAGTTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAAT... |
Task1_train_20493 | The gene ENTREP2, NSMCE3 (endosomal transmembrane epsin interactor 2| NSE3 homolog, SMC5-SMC6 complex component), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Lung disease, immunodeficiency, and chromosome breakage syndrome; | TGCTAACACCTCTGAGAAAAGCGGGGGGAATTTTGCCTCAGATATAACTGGTGGTGACTGCTGGGTAATAATTTTTATTATACAGGTGAGAATGCGAGTATCAGAGGGCATGAGGAGGAGAAAGCTGAGTCAGGGAGGTAAGGGGACCAGGAGGCAGGAAGGAGTTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAAT... | TGCTAACACCTCTGAGAAAAGCGGGGGGAATTTTGCCTCAGATATAACTGGTGGTGACTGCTGGGTAATAATTTTTATTATACAGGTGAGAATGCGAGTATCAGAGGGCATGAGGAGGAGAAAGCTGAGTCAGGGAGGTAAGGGGACCAGGAGGCAGGAAGGAGTTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAAT... |
Task1_train_20494 | A sequence alteration has been identified in ENTREP2, NSMCE3 (endosomal transmembrane epsin interactor 2| NSE3 homolog, SMC5-SMC6 complex component) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Lung damage, immunodeficiency and chromosome breakage syndrome | TTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAATGACATTCCGTCCAGTGTTGATGAAGTTCACTTTTTTCCCCGAGTTAAAAATATTTGCCTTATTTCAAGGTTAATTTGCAGCACCTCCCCCTAAAACAATTAACTTATTTGCCCACTGAATAAAACGTGTTGAATCTCTGCATTAAAAACAGCATCTGCTACACG... | TTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAATGACATTCCGTCCAGTGTTGATGAAGTTCACTTTTTTCCCCGAGTTAAAAATATTTGCCTTATTTCAAGGTTAATTTGCAGCACCTCCCCCTAAAACAATTAACTTATTTGCCCACTGAATAAAACGTGTTGAATCTCTGCATTAAAAACAGCATCTGCTACACG... |
Task1_train_20495 | Consider a variant on Chromosome 15 in gene FAN1, MTMR10 (FANCD2 and FANCI associated nuclease 1| myotubularin related protein 10). Determine its clinical classification and disease relevance. | Pathogenic; Karyomegalic interstitial nephritis | GTGTGTGTGTGTGTGTGTGTGTGTGACCTTGTCTTAGGGATTCATGGCGAAGGGTCCACCTTCAGCACCCTGTATGGCCTCCTCCTGTGGGACATCATCTTCATGGATGGGATTCCGGATGTCTTCAGAAACGCCTGTCAGGTACTCCAGTGCCCCTGCCCCACGAGTAGGTCCTTCTGCACACATCCGTGGCTCACGCCCACCTGGGCACCGTGTGTCCACAGCCAGCAGAAACCATCTCTGTTACGGTCCTTTGGGTCATCCACAGGTCAAGATGATAACTTATTTTAAAAATCTGAGTAATAGAATTTAAGATGTAA... | GTGTGTGTGTGTGTGTGTGTGTGTGACCTTGTCTTAGGGATTCATGGCGAAGGGTCCACCTTCAGCACCCTGTATGGCCTCCTCCTGTGGGACATCATCTTCATGGATGGGATTCCGGATGTCTTCAGAAACGCCTGTCAGGTACTCCAGTGCCCCTGCCCCACGAGTAGGTCCTTCTGCACACATCCGTGGCTCACGCCCACCTGGGCACCGTGTGTCCACAGCCAGCAGAAACCATCTCTGTTACGGTCCTTTGGGTCATCCACAGGTCAAGATGATAACTTATTTTAAAAATCTGAGTAATAGAATTTAAGATGTAA... |
Task1_train_20496 | A sequence alteration has been identified in OTUD7A (OTU deubiquitinase 7A) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Neurodevelopmental disorder with hypotonia and seizures | GGACTCGGGAGGCGTGCAGAGGAAGAGAGCAGTTTTCCACAGTCGACTGAGTCTTCAGAATGCTTGTCCTCAAATGTCCTGCCAAGATAGACTGTTGGTATGGACATAACATAGCCTTAAAACACAGTGACAAGACAGCCCTGGAGGAAGGGTGTGCCAGCGTATGTGGGTTTCTAATGATTTCATCTTCAAACATGGTCTTGGACGCCACTGCTGCAGCTGCAGCTCTGTGGGAGCCTCTTTTCCAGCCGGGGCCTCCAGGGAGAGCTGGCCCATGAGGCACTAGGCCCTGCCTTGGTGGGTGGGTGAGGACCCAGTTG... | GGACTCGGGAGGCGTGCAGAGGAAGAGAGCAGTTTTCCACAGTCGACTGAGTCTTCAGAATGCTTGTCCTCAAATGTCCTGCCAAGATAGACTGTTGGTATGGACATAACATAGCCTTAAAACACAGTGACAAGACAGCCCTGGAGGAAGGGTGTGCCAGCGTATGTGGGTTTCTAATGATTTCATCTTCAAACATGGTCTTGGACGCCACTGCTGCAGCTGCAGCTCTGTGGGAGCCTCTTTTCCAGCCGGGGCCTCCAGGGAGAGCTGGCCCATGAGGCACTAGGCCCTGCCTTGGTGGGTGGGTGAGGACCCAGTTG... |
Task1_train_20497 | This variant affects gene RYR3 (ryanodine receptor 3) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Hydrops fetalis | CTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGCAACAGGGTCTCGCTTTGTGGCCCAGGCTGGTCTCAAACTGCTAGGCTCAAGAAATCCTTCAGCCTCAGCCTCCCAAATTGCTAGGATTATAGGCATGAGCCACTGCACATTGCCTATAATAAGAATTTTGTAACCTCAACCAATGATGTGTCTTCTATTTGCATGAAGTGGCTGAAACACCCAGCTCTCCCTGAGCCATGACAGCCACAGTCCTGCTCCCTCCTGTTGTCCTTCCAGCAACATTGAAGGAACTCATCTCACAGACGATGATCTGCTGGGCCCAGGA... | CTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGCAACAGGGTCTCGCTTTGTGGCCCAGGCTGGTCTCAAACTGCTAGGCTCAAGAAATCCTTCAGCCTCAGCCTCCCAAATTGCTAGGATTATAGGCATGAGCCACTGCACATTGCCTATAATAAGAATTTTGTAACCTCAACCAATGATGTGTCTTCTATTTGCATGAAGTGGCTGAAACACCCAGCTCTCCCTGAGCCATGACAGCCACAGTCCTGCTCCCTCCTGTTGTCCTTCCAGCAACATTGAAGGAACTCATCTCACAGACGATGATCTGCTGGGCCCAGGA... |
Task1_train_20498 | A variant has been detected on Chromosome 15 in SLC12A6 (solute carrier family 12 member 6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CTTGTGATGAAAAGCTTGCATCATTAAGATGGTTAAAGAATTAGGGGTACAAAATATAGTTATGAAAATGAAGTTACCTGAGTCCTTAAGATATTTTCACTGAGCTGGCTCTAACCAAACTAGCTAGTCTTGCTACTTTTAGCAGTGATCAAGATTAAATCCACACTCACCCTTGGTATTCAATGTACTTGTAGATCATACCAGCTATTACCATGGCTACAATGGCATAATACCAGGAAGAAATGAACATCAGAGCCAGACAGATACTCATTCCCATGAAAGAAAGGGCCCTAGAAAATTAAAAACAAAAAAGTATCTTT... | CTTGTGATGAAAAGCTTGCATCATTAAGATGGTTAAAGAATTAGGGGTACAAAATATAGTTATGAAAATGAAGTTACCTGAGTCCTTAAGATATTTTCACTGAGCTGGCTCTAACCAAACTAGCTAGTCTTGCTACTTTTAGCAGTGATCAAGATTAAATCCACACTCACCCTTGGTATTCAATGTACTTGTAGATCATACCAGCTATTACCATGGCTACAATGGCATAATACCAGGAAGAAATGAACATCAGAGCCAGACAGATACTCATTCCCATGAAAGAAAGGGCCCTAGAAAATTAAAAACAAAAAAGTATCTTT... |
Task1_train_20499 | A genetic alteration is present in SLC12A6 (solute carrier family 12 member 6) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease, axonal, IIa 2II | CTTGTGATGAAAAGCTTGCATCATTAAGATGGTTAAAGAATTAGGGGTACAAAATATAGTTATGAAAATGAAGTTACCTGAGTCCTTAAGATATTTTCACTGAGCTGGCTCTAACCAAACTAGCTAGTCTTGCTACTTTTAGCAGTGATCAAGATTAAATCCACACTCACCCTTGGTATTCAATGTACTTGTAGATCATACCAGCTATTACCATGGCTACAATGGCATAATACCAGGAAGAAATGAACATCAGAGCCAGACAGATACTCATTCCCATGAAAGAAAGGGCCCTAGAAAATTAAAAACAAAAAAGTATCTTT... | CTTGTGATGAAAAGCTTGCATCATTAAGATGGTTAAAGAATTAGGGGTACAAAATATAGTTATGAAAATGAAGTTACCTGAGTCCTTAAGATATTTTCACTGAGCTGGCTCTAACCAAACTAGCTAGTCTTGCTACTTTTAGCAGTGATCAAGATTAAATCCACACTCACCCTTGGTATTCAATGTACTTGTAGATCATACCAGCTATTACCATGGCTACAATGGCATAATACCAGGAAGAAATGAACATCAGAGCCAGACAGATACTCATTCCCATGAAAGAAAGGGCCCTAGAAAATTAAAAACAAAAAAGTATCTTT... |
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