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_6100 | This mutation occurs in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Von Hippel-Lindau syndrome | CTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACA... | CTGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACA... |
Task1_train_6101 | Gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Von Hippel-Lindau syndrome | TGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAG... | TGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAG... |
Task1_train_6102 | Chromosome 3 houses a mutation in gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Chuvash polycythemia | TGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAG... | TGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAG... |
Task1_train_6103 | The gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Von Hippel-Lindau syndrome | TGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAG... | TGATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAG... |
Task1_train_6104 | This sequence variant lies in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Von Hippel-Lindau syndrome | GATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGA... | GATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGA... |
Task1_train_6105 | An alteration has been detected in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Chuvash polycythemia | GATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGA... | GATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGA... |
Task1_train_6106 | This mutation occurs in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | GATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGA... | GATGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGA... |
Task1_train_6107 | The variant affects gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Chuvash polycythemia | TGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGT... | TGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGT... |
Task1_train_6108 | Here’s a variant in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Von Hippel-Lindau syndrome | TGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGT... | TGTTCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGT... |
Task1_train_6109 | The gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hereditary cancer-predisposing syndrome | TCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAG... | TCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAG... |
Task1_train_6110 | An alteration has been detected in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Von Hippel-Lindau syndrome | TCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAG... | TCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAG... |
Task1_train_6111 | This alteration in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Chuvash polycythemia | TCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAG... | TCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAG... |
Task1_train_6112 | Consider this mutation in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Von Hippel-Lindau syndrome | TCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAG... | TCCTGTGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAG... |
Task1_train_6113 | This genomic variant is located on Chromosome 3, within the LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Von Hippel-Lindau syndrome | TGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCT... | TGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCT... |
Task1_train_6114 | This alteration in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Chuvash polycythemia | TGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCT... | TGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCT... |
Task1_train_6115 | This alteration in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | TGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCT... | TGGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCT... |
Task1_train_6116 | Here’s a variant in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Von Hippel-Lindau syndrome | GGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTG... | GGGTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTG... |
Task1_train_6117 | A genomic change on Chromosome 3 affects LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary cancer-predisposing syndrome | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6118 | This variant impacts the gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Von Hippel-Lindau syndrome | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6119 | A genomic change on Chromosome 3 affects LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Chuvash polycythemia | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6120 | This variant affects the gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Von Hippel-Lindau syndrome | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6121 | Given this context: Chromosome 3, gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Chuvash polycythemia | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6122 | The gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Von Hippel-Lindau syndrome | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6123 | This mutation is located in gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Nonpapillary renal cell carcinoma | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6124 | This alteration occurs within gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Chuvash polycythemia | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6125 | This variant impacts the gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pheochromocytoma | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6126 | A mutation found in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Von Hippel-Lindau syndrome | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6127 | This mutation occurs in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Chuvash polycythemia | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6128 | Consider this mutation in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Von Hippel-Lindau syndrome | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6129 | This variant affects gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary cancer-predisposing syndrome | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6130 | This gene mutation involves LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pheochromocytoma | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... | GTAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTC... |
Task1_train_6131 | This variant lies on Chromosome 3 and affects the gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Chuvash polycythemia | TAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCT... | TAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCT... |
Task1_train_6132 | This sequence change occurs on Chromosome 3, altering LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Von Hippel-Lindau syndrome | TAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCT... | TAAAAAAAACCTCACTAAAGACCAGCAGTGTGTGGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCT... |
Task1_train_6133 | A mutation found in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Von Hippel-Lindau syndrome | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... |
Task1_train_6134 | The gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Chuvash polycythemia | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... |
Task1_train_6135 | This variant affects gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Von Hippel-Lindau syndrome | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... |
Task1_train_6136 | A variant on Chromosome 3 in gene LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Von Hippel-Lindau syndrome | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... |
Task1_train_6137 | A variant was discovered on Chromosome 3, affecting LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... |
Task1_train_6138 | This genomic variant is located on Chromosome 3, within the LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hereditary cancer-predisposing syndrome | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... |
Task1_train_6139 | Here’s a variant in LOC107303340, VHL (3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region| von Hippel-Lindau tumor suppressor) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Von Hippel-Lindau syndrome | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... | GGTGGCTCCTGCCTGTAATCATGCCTGTAATTCCAGCACTTAGGGAGGCTATGGCGGGAGGGTCGCTTGAGACCAGGAGTTCTTGACCAGCCTGGACAACAAAGTGAGACCCCAGCTCCACAAAAAAATTTTTTTTTAATTACCTGGGCATCTTAGCATATGCCTGTGGTCACAGCTATTTGGGAGGCTTAGGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATCATACCACTGCACTCCAGCCCAGGTGACAGAGTGAGATCCTGTCTCAAAAAAAGAAAAAAAAAACTCAAAAACCCCCC... |
Task1_train_6140 | Located on Chromosome 3, this mutation impacts ATP2B2 (ATPase plasma membrane Ca2+ transporting 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | ACCTCCCAGGTTTCATCACAGCCCCTGCTCCTGGCTTTCTCTCTCACCTCCTCCTTGCCTCAGCCTCGCTCCCCTTGCCCCCGTCCTCCCCACCCCGGGCTTTCTCTAATTCCATATACCTCAGGGTCAAGTGTGCCCGTCTTCTTATCAATGCTGCATGGCCTCGCCACCAACTCAATCAAAGACCTCAGGCAAACTGATAGTGGTCTCAGAATCTCAGTTTCCCTATCTGGCATCAAGACCTTCTGGTTTCCAAGTTGCTGGGGCCGCAGGAGTGTTCCTCAAGCTGCCACTAGAGGGAGTGTCTCATCCACAGGCCA... | ACCTCCCAGGTTTCATCACAGCCCCTGCTCCTGGCTTTCTCTCTCACCTCCTCCTTGCCTCAGCCTCGCTCCCCTTGCCCCCGTCCTCCCCACCCCGGGCTTTCTCTAATTCCATATACCTCAGGGTCAAGTGTGCCCGTCTTCTTATCAATGCTGCATGGCCTCGCCACCAACTCAATCAAAGACCTCAGGCAAACTGATAGTGGTCTCAGAATCTCAGTTTCCCTATCTGGCATCAAGACCTTCTGGTTTCCAAGTTGCTGGGGCCGCAGGAGTGTTCCTCAAGCTGCCACTAGAGGGAGTGTCTCATCCACAGGCCA... |
Task1_train_6141 | With a mutation on Chromosome 3 in gene SLC6A1-AS1, SLC6A1 (SLC6A1 antisense RNA 1| solute carrier family 6 member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Epilepsy with myoclonic atonic seizures | TGTTCTTACGTGGTCTTTTTGTTACATTTCCACAAGTTTGGATGGAGGACAGAGAAAAGTCTCAGCAGCCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGC... | TGTTCTTACGTGGTCTTTTTGTTACATTTCCACAAGTTTGGATGGAGGACAGAGAAAAGTCTCAGCAGCCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGC... |
Task1_train_6142 | Here’s a variant in SLC6A1, SLC6A1-AS1 (solute carrier family 6 member 1| SLC6A1 antisense RNA 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | CATTTCCACAAGTTTGGATGGAGGACAGAGAAAAGTCTCAGCAGCCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCAC... | CATTTCCACAAGTTTGGATGGAGGACAGAGAAAAGTCTCAGCAGCCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCAC... |
Task1_train_6143 | Here is a genetic alteration in SLC6A1, SLC6A1-AS1 (solute carrier family 6 member 1| SLC6A1 antisense RNA 1) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | ATTTCCACAAGTTTGGATGGAGGACAGAGAAAAGTCTCAGCAGCCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCACC... | ATTTCCACAAGTTTGGATGGAGGACAGAGAAAAGTCTCAGCAGCCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCACC... |
Task1_train_6144 | The gene SLC6A1, SLC6A1-AS1 (solute carrier family 6 member 1| SLC6A1 antisense RNA 1) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TTCCACAAGTTTGGATGGAGGACAGAGAAAAGTCTCAGCAGCCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCACCAT... | TTCCACAAGTTTGGATGGAGGACAGAGAAAAGTCTCAGCAGCCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCACCAT... |
Task1_train_6145 | The gene SLC6A1, SLC6A1-AS1 (solute carrier family 6 member 1| SLC6A1 antisense RNA 1) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Epilepsy with myoclonic atonic seizures | CCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCACCATCCCTCCTCTCCTCCCCTTCTCTGCTTTGCAGGATCTCACCC... | CCCCTCTGTTGGTTTCTCTTTTCTTCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCACCATCCCTCCTCTCCTCCCCTTCTCTGCTTTGCAGGATCTCACCC... |
Task1_train_6146 | Consider a variant on Chromosome 3 in gene SLC6A1, SLC6A1-AS1 (solute carrier family 6 member 1| SLC6A1 antisense RNA 1). Determine its clinical classification and disease relevance. | Pathogenic; Epilepsy with myoclonic atonic seizures | TCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCACCATCCCTCCTCTCCTCCCCTTCTCTGCTTTGCAGGATCTCACCCAGGGTGGCAGAAGGAGGCCTTCTG... | TCTGATAAAATTATGGAATGTCTTCTCCACGCTGCCCTCATCCCACGCCCACAGCTGTCCCGAGGGCAGCGGGCCCCACTCCTGCATGTTCCCAGCACCCCAAGGGCCAGTGCCATGCTGCATGGTCTCGCTGCGGCCACCCTGGCTGGGGACGCTCTGCGGGACACGCGCACAGCCCAGACGCCCTGGCAGGCTTCCTGCACCCCTGCTGCCCTCTGTAGGAGCTGCCTGCCTGCCCCATCGCTGCTTCACCATCCCTCCTCTCCTCCCCTTCTCTGCTTTGCAGGATCTCACCCAGGGTGGCAGAAGGAGGCCTTCTG... |
Task1_train_6147 | This variant lies on Chromosome 3 and affects the gene SLC6A1-AS1, SLC6A1 (SLC6A1 antisense RNA 1| solute carrier family 6 member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Epilepsy with myoclonic atonic seizures | GTAGTACTGAGCAGTAGTACTCAGCTGGTAGAAGGCAGACCGGAGATTTGAACTCAGGACTAGTCTCAGCCCAATTTCCTCCACTGTACTGTACCCCACGCTGCCCCTGGAAATAAAAAGGTAAGAAGGCTGCAGAGTGTCAGTAGAATATCTTAGGGTGATTGAAGGCTGAAAGAGGTCATCTAAACCAGTGGCCCTTAGCTGAGGGCCAGGGCTGGGCTACCAGTATAAGAATCTCCTTTGGCAGAGCTTGTTAAAAGTATAGACTCAGGACTTCCTGCAACCCAGTGAGAGATGTACCAGTGTCATCCTCATTTTAA... | GTAGTACTGAGCAGTAGTACTCAGCTGGTAGAAGGCAGACCGGAGATTTGAACTCAGGACTAGTCTCAGCCCAATTTCCTCCACTGTACTGTACCCCACGCTGCCCCTGGAAATAAAAAGGTAAGAAGGCTGCAGAGTGTCAGTAGAATATCTTAGGGTGATTGAAGGCTGAAAGAGGTCATCTAAACCAGTGGCCCTTAGCTGAGGGCCAGGGCTGGGCTACCAGTATAAGAATCTCCTTTGGCAGAGCTTGTTAAAAGTATAGACTCAGGACTTCCTGCAACCCAGTGAGAGATGTACCAGTGTCATCCTCATTTTAA... |
Task1_train_6148 | This variant impacts the gene SLC6A1, SLC6A1-AS1 (solute carrier family 6 member 1| SLC6A1 antisense RNA 1) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Epilepsy with myoclonic atonic seizures | CACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAATGTGGTAAAGTGGACTGTGATCAGAGGTCGTAACTCCTAGGCTCTGTCGTCTTCACCCAGACACCTCCGTAGTGGGGACACCTTTCTCCCCATTCAGCCACAGGTGGAGCTTCTTTCTTGCTCACCCTGGCGATGGCTAGTATGGCCGCAGAGTGTGACAAGGCTCCCAATTGCATCCTTGGAGGCAAAGTTAAAGATTTTATGATTAAGTACTTAACATTTCCTGTTGGAAGTTTGGTGGCCTCAGATTTCTCCTCTGAGCAGGA... | CACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAATGTGGTAAAGTGGACTGTGATCAGAGGTCGTAACTCCTAGGCTCTGTCGTCTTCACCCAGACACCTCCGTAGTGGGGACACCTTTCTCCCCATTCAGCCACAGGTGGAGCTTCTTTCTTGCTCACCCTGGCGATGGCTAGTATGGCCGCAGAGTGTGACAAGGCTCCCAATTGCATCCTTGGAGGCAAAGTTAAAGATTTTATGATTAAGTACTTAACATTTCCTGTTGGAAGTTTGGTGGCCTCAGATTTCTCCTCTGAGCAGGA... |
Task1_train_6149 | A change on Chromosome 3 affects gene SLC6A1, SLC6A1-AS1 (solute carrier family 6 member 1| SLC6A1 antisense RNA 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Epilepsy with myoclonic atonic seizures | AAGTGGACTGTGATCAGAGGTCGTAACTCCTAGGCTCTGTCGTCTTCACCCAGACACCTCCGTAGTGGGGACACCTTTCTCCCCATTCAGCCACAGGTGGAGCTTCTTTCTTGCTCACCCTGGCGATGGCTAGTATGGCCGCAGAGTGTGACAAGGCTCCCAATTGCATCCTTGGAGGCAAAGTTAAAGATTTTATGATTAAGTACTTAACATTTCCTGTTGGAAGTTTGGTGGCCTCAGATTTCTCCTCTGAGCAGGACATACAACAGAGGGTTGGACACAGATGGCCAGAGTTGAAGCTAGGCCAGGAAACATCGCTG... | AAGTGGACTGTGATCAGAGGTCGTAACTCCTAGGCTCTGTCGTCTTCACCCAGACACCTCCGTAGTGGGGACACCTTTCTCCCCATTCAGCCACAGGTGGAGCTTCTTTCTTGCTCACCCTGGCGATGGCTAGTATGGCCGCAGAGTGTGACAAGGCTCCCAATTGCATCCTTGGAGGCAAAGTTAAAGATTTTATGATTAAGTACTTAACATTTCCTGTTGGAAGTTTGGTGGCCTCAGATTTCTCCTCTGAGCAGGACATACAACAGAGGGTTGGACACAGATGGCCAGAGTTGAAGCTAGGCCAGGAAACATCGCTG... |
Task1_train_6150 | This variant lies on Chromosome 3 and affects the gene SLC6A1 (solute carrier family 6 member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Epilepsy with myoclonic atonic seizures | ATGAAAAGCTACCCTAGTTTCATCTAGTGGGAACTTCTGGACCCACTGGGTTCTCAAATCCAAGGCTGGTGTAAAAGTATCTCTGATCCATTCCTAGGACTAGGGACGCCGGAGGAGGGCACAAGTATCTCCCAGTCTAAATTTCAGGAGCAGAAAAGTATAGGGCTTATGGGCTTTGGAAGGGTTTGAGTCTCAGTCCCTGAGCTTCTAGCTGTGTGCACTTGAGCAAGCCATTTCATCTCTCTGAGCCTCAGTCCCCTCATCTGTTCAATGGTCACAATAACAGTACCTTACAGGGTTGTCCCAAAGACTGAGGGAGA... | ATGAAAAGCTACCCTAGTTTCATCTAGTGGGAACTTCTGGACCCACTGGGTTCTCAAATCCAAGGCTGGTGTAAAAGTATCTCTGATCCATTCCTAGGACTAGGGACGCCGGAGGAGGGCACAAGTATCTCCCAGTCTAAATTTCAGGAGCAGAAAAGTATAGGGCTTATGGGCTTTGGAAGGGTTTGAGTCTCAGTCCCTGAGCTTCTAGCTGTGTGCACTTGAGCAAGCCATTTCATCTCTCTGAGCCTCAGTCCCCTCATCTGTTCAATGGTCACAATAACAGTACCTTACAGGGTTGTCCCAAAGACTGAGGGAGA... |
Task1_train_6151 | This gene mutation involves SLC6A1 (solute carrier family 6 member 1) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Inborn genetic diseases | ATGAAAAGCTACCCTAGTTTCATCTAGTGGGAACTTCTGGACCCACTGGGTTCTCAAATCCAAGGCTGGTGTAAAAGTATCTCTGATCCATTCCTAGGACTAGGGACGCCGGAGGAGGGCACAAGTATCTCCCAGTCTAAATTTCAGGAGCAGAAAAGTATAGGGCTTATGGGCTTTGGAAGGGTTTGAGTCTCAGTCCCTGAGCTTCTAGCTGTGTGCACTTGAGCAAGCCATTTCATCTCTCTGAGCCTCAGTCCCCTCATCTGTTCAATGGTCACAATAACAGTACCTTACAGGGTTGTCCCAAAGACTGAGGGAGA... | ATGAAAAGCTACCCTAGTTTCATCTAGTGGGAACTTCTGGACCCACTGGGTTCTCAAATCCAAGGCTGGTGTAAAAGTATCTCTGATCCATTCCTAGGACTAGGGACGCCGGAGGAGGGCACAAGTATCTCCCAGTCTAAATTTCAGGAGCAGAAAAGTATAGGGCTTATGGGCTTTGGAAGGGTTTGAGTCTCAGTCCCTGAGCTTCTAGCTGTGTGCACTTGAGCAAGCCATTTCATCTCTCTGAGCCTCAGTCCCCTCATCTGTTCAATGGTCACAATAACAGTACCTTACAGGGTTGTCCCAAAGACTGAGGGAGA... |
Task1_train_6152 | An alteration has been detected in SLC6A1 (solute carrier family 6 member 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Epilepsy with myoclonic atonic seizures | AGGGTTGTCCCAAAGACTGAGGGAGATGAGTAGAATGCTTAGCATATGCCTTACACATAGTAAGCACTCAATACATAGTATCAATTATAATCATTTTGGAGTGGTAATTAGAGTTCGTGCTACATTAGGAGACTGGCCACTTCTTGGGGACAGAGAGTAGGGCCCCCTCACTGCATATATTGAGGATGTCAACCAATCCATCCACAAGCATTTATTGAATACCTACTATGTGCCTGGCTTCATGCTGAACACGGAAGGCACAGGGAAGTACGAGACCAAGGTGACATATAATAAGCCTGCGGCATGTCCTGATGTGACTG... | AGGGTTGTCCCAAAGACTGAGGGAGATGAGTAGAATGCTTAGCATATGCCTTACACATAGTAAGCACTCAATACATAGTATCAATTATAATCATTTTGGAGTGGTAATTAGAGTTCGTGCTACATTAGGAGACTGGCCACTTCTTGGGGACAGAGAGTAGGGCCCCCTCACTGCATATATTGAGGATGTCAACCAATCCATCCACAAGCATTTATTGAATACCTACTATGTGCCTGGCTTCATGCTGAACACGGAAGGCACAGGGAAGTACGAGACCAAGGTGACATATAATAAGCCTGCGGCATGTCCTGATGTGACTG... |
Task1_train_6153 | Here is a variant affecting SLC6A1 (solute carrier family 6 member 1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Epilepsy with myoclonic atonic seizures | TTTTCCTAGCTCCAAGTACAATGGGTTTTCTCTTGGATTGTGGCTGCCTTCCTTAATCCTGCAGAATCTCGGGGTCAAGTCAGGGAGGTGAAGCTAAGCCAGTGAACTGTCCATGCTGACCGGGAAACAGGCTCACATTAGACTCTGAGATACAAAGGTCATCAAACTTGAACATTGCTCTTCCATACTAGTGAGCAAAGAAATGCAATTTTAGACAATGATCATCAGTTTGGCAAAAAATAATTGTTTAAATGATGATACCTAGTGCTGGCCTTGTGACAGAAAGGCACTCTCTGTAATGCCAGGTGAAGTTCCATTTC... | TTTTCCTAGCTCCAAGTACAATGGGTTTTCTCTTGGATTGTGGCTGCCTTCCTTAATCCTGCAGAATCTCGGGGTCAAGTCAGGGAGGTGAAGCTAAGCCAGTGAACTGTCCATGCTGACCGGGAAACAGGCTCACATTAGACTCTGAGATACAAAGGTCATCAAACTTGAACATTGCTCTTCCATACTAGTGAGCAAAGAAATGCAATTTTAGACAATGATCATCAGTTTGGCAAAAAATAATTGTTTAAATGATGATACCTAGTGCTGGCCTTGTGACAGAAAGGCACTCTCTGTAATGCCAGGTGAAGTTCCATTTC... |
Task1_train_6154 | Here is a genetic alteration in SLC6A1 (solute carrier family 6 member 1) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Epilepsy with myoclonic atonic seizures | GGGGTCAAGTCAGGGAGGTGAAGCTAAGCCAGTGAACTGTCCATGCTGACCGGGAAACAGGCTCACATTAGACTCTGAGATACAAAGGTCATCAAACTTGAACATTGCTCTTCCATACTAGTGAGCAAAGAAATGCAATTTTAGACAATGATCATCAGTTTGGCAAAAAATAATTGTTTAAATGATGATACCTAGTGCTGGCCTTGTGACAGAAAGGCACTCTCTGTAATGCCAGGTGAAGTTCCATTTCTCGAAAGCAACAAGGTAATATGGATCAAAAGCCTGTGATGAATTTATTCCTTTTAATTCAGTAGTTCCAC... | GGGGTCAAGTCAGGGAGGTGAAGCTAAGCCAGTGAACTGTCCATGCTGACCGGGAAACAGGCTCACATTAGACTCTGAGATACAAAGGTCATCAAACTTGAACATTGCTCTTCCATACTAGTGAGCAAAGAAATGCAATTTTAGACAATGATCATCAGTTTGGCAAAAAATAATTGTTTAAATGATGATACCTAGTGCTGGCCTTGTGACAGAAAGGCACTCTCTGTAATGCCAGGTGAAGTTCCATTTCTCGAAAGCAACAAGGTAATATGGATCAAAAGCCTGTGATGAATTTATTCCTTTTAATTCAGTAGTTCCAC... |
Task1_train_6155 | A genetic alteration is present in SLC6A1 (solute carrier family 6 member 1) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; SLC6A1-related disorder | GGGGTCAAGTCAGGGAGGTGAAGCTAAGCCAGTGAACTGTCCATGCTGACCGGGAAACAGGCTCACATTAGACTCTGAGATACAAAGGTCATCAAACTTGAACATTGCTCTTCCATACTAGTGAGCAAAGAAATGCAATTTTAGACAATGATCATCAGTTTGGCAAAAAATAATTGTTTAAATGATGATACCTAGTGCTGGCCTTGTGACAGAAAGGCACTCTCTGTAATGCCAGGTGAAGTTCCATTTCTCGAAAGCAACAAGGTAATATGGATCAAAAGCCTGTGATGAATTTATTCCTTTTAATTCAGTAGTTCCAC... | GGGGTCAAGTCAGGGAGGTGAAGCTAAGCCAGTGAACTGTCCATGCTGACCGGGAAACAGGCTCACATTAGACTCTGAGATACAAAGGTCATCAAACTTGAACATTGCTCTTCCATACTAGTGAGCAAAGAAATGCAATTTTAGACAATGATCATCAGTTTGGCAAAAAATAATTGTTTAAATGATGATACCTAGTGCTGGCCTTGTGACAGAAAGGCACTCTCTGTAATGCCAGGTGAAGTTCCATTTCTCGAAAGCAACAAGGTAATATGGATCAAAAGCCTGTGATGAATTTATTCCTTTTAATTCAGTAGTTCCAC... |
Task1_train_6156 | This variant affects the gene SLC6A1 (solute carrier family 6 member 1) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Epilepsy with myoclonic atonic seizures | TGGACAATTTGGGGAGAAGATCCACTCTTGCCTTGGGAGTATAAACTTTGGTATTGGGGGAAATTCACCCCCGATATTTCACGTAGGTTCTTTTCTATTTTACCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAATTTTAAAGCTGGATGTCTGGGGGAGACATCACATGATGCCCCCGAAGCTGTAAAACCAGCAAGTTTTTATTCATGATTTTCAAAAGGGGAGGGAGTGTATGAATAGGGTGTGGGTCACAGAGATCACATGCTCACAAGGTAATAAAATATCACAAGGCAAATGGA... | TGGACAATTTGGGGAGAAGATCCACTCTTGCCTTGGGAGTATAAACTTTGGTATTGGGGGAAATTCACCCCCGATATTTCACGTAGGTTCTTTTCTATTTTACCTAAGTGTCAGCTGGTCTGAGAAATAAAGGGAAAGAGTACAAAAGAGAGAAATTTTAAAGCTGGATGTCTGGGGGAGACATCACATGATGCCCCCGAAGCTGTAAAACCAGCAAGTTTTTATTCATGATTTTCAAAAGGGGAGGGAGTGTATGAATAGGGTGTGGGTCACAGAGATCACATGCTCACAAGGTAATAAAATATCACAAGGCAAATGGA... |
Task1_train_6157 | Given this variant in gene SLC6A1 (solute carrier family 6 member 1) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Epilepsy with myoclonic atonic seizures | ATAAGCCTGGGAGCGCTACGGGAGACCGGGGCTTATTTCATCCCTTATCTACAACTGTAAAAGACAGACGTCCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTAGGGACGCATTCTCTTTCTCAGGGAAGTTCCTTGCTGAGAAAAAGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAAGAAGAGAAATATGGCTCTGTTCCACCTGGCCCACAGGCAGCCAGACGTTAAGGTTATCTCCCTTGTTCCCTGGACATCACTGTTATCCTGTTTTTTTTCCAAGGTGCCCAGATTTCATATTGTTTAAACAATTTGTGC... | ATAAGCCTGGGAGCGCTACGGGAGACCGGGGCTTATTTCATCCCTTATCTACAACTGTAAAAGACAGACGTCCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTAGGGACGCATTCTCTTTCTCAGGGAAGTTCCTTGCTGAGAAAAAGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAAGAAGAGAAATATGGCTCTGTTCCACCTGGCCCACAGGCAGCCAGACGTTAAGGTTATCTCCCTTGTTCCCTGGACATCACTGTTATCCTGTTTTTTTTCCAAGGTGCCCAGATTTCATATTGTTTAAACAATTTGTGC... |
Task1_train_6158 | This gene mutation involves SLC6A1 (solute carrier family 6 member 1) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Epilepsy with myoclonic atonic seizures | ACCGGGGCTTATTTCATCCCTTATCTACAACTGTAAAAGACAGACGTCCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTAGGGACGCATTCTCTTTCTCAGGGAAGTTCCTTGCTGAGAAAAAGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAAGAAGAGAAATATGGCTCTGTTCCACCTGGCCCACAGGCAGCCAGACGTTAAGGTTATCTCCCTTGTTCCCTGGACATCACTGTTATCCTGTTTTTTTTCCAAGGTGCCCAGATTTCATATTGTTTAAACAATTTGTGCAGTTAATGCAATCATCACAAGGTC... | ACCGGGGCTTATTTCATCCCTTATCTACAACTGTAAAAGACAGACGTCCCCAAAGCGGCCATTTCAGAGGCCTCCCCTTAGGGACGCATTCTCTTTCTCAGGGAAGTTCCTTGCTGAGAAAAAGAATTCAGCGATATTTCTCCTATTTGCTTTTGAAAGAAGAGAAATATGGCTCTGTTCCACCTGGCCCACAGGCAGCCAGACGTTAAGGTTATCTCCCTTGTTCCCTGGACATCACTGTTATCCTGTTTTTTTTCCAAGGTGCCCAGATTTCATATTGTTTAAACAATTTGTGCAGTTAATGCAATCATCACAAGGTC... |
Task1_train_6159 | An alteration has been detected in SLC6A1 (solute carrier family 6 member 1) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Epilepsy with myoclonic atonic seizures | GGTTGGGGCTGGGGCTGCTGCAGGTGGCTGACCTCTGTTCCCACCTGAAGTTCTGCACTGTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGAGAGCTCTTCATTGCTGCTGTCTGCATCATCTCCTACCTGATCGGTCTCTCTAACATCACTCAGGTAAGCTCAGTAAGCACCTGGCACTCCCCCAGCACTGCCCAGGGCCATGCCCAGGGCCTCCTCTCCCCTCCTCTGTTGTATCCCACCTTTCCTGCCTTCATTGAGCATCATCTCTGTGCCAAGCTCTGGGCACATAAC... | GGTTGGGGCTGGGGCTGCTGCAGGTGGCTGACCTCTGTTCCCACCTGAAGTTCTGCACTGTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGAGAGCTCTTCATTGCTGCTGTCTGCATCATCTCCTACCTGATCGGTCTCTCTAACATCACTCAGGTAAGCTCAGTAAGCACCTGGCACTCCCCCAGCACTGCCCAGGGCCATGCCCAGGGCCTCCTCTCCCCTCCTCTGTTGTATCCCACCTTTCCTGCCTTCATTGAGCATCATCTCTGTGCCAAGCTCTGGGCACATAAC... |
Task1_train_6160 | Gene SLC6A1 (solute carrier family 6 member 1) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epilepsy with myoclonic atonic seizures | GGGCTGCTGCAGGTGGCTGACCTCTGTTCCCACCTGAAGTTCTGCACTGTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGAGAGCTCTTCATTGCTGCTGTCTGCATCATCTCCTACCTGATCGGTCTCTCTAACATCACTCAGGTAAGCTCAGTAAGCACCTGGCACTCCCCCAGCACTGCCCAGGGCCATGCCCAGGGCCTCCTCTCCCCTCCTCTGTTGTATCCCACCTTTCCTGCCTTCATTGAGCATCATCTCTGTGCCAAGCTCTGGGCACATAACAGTGAGTCAGA... | GGGCTGCTGCAGGTGGCTGACCTCTGTTCCCACCTGAAGTTCTGCACTGTGGAGGGCTTCATCACAGCCCTGGTGGATGAGTACCCCAGGCTCCTCCGCAACCGCAGAGAGCTCTTCATTGCTGCTGTCTGCATCATCTCCTACCTGATCGGTCTCTCTAACATCACTCAGGTAAGCTCAGTAAGCACCTGGCACTCCCCCAGCACTGCCCAGGGCCATGCCCAGGGCCTCCTCTCCCCTCCTCTGTTGTATCCCACCTTTCCTGCCTTCATTGAGCATCATCTCTGTGCCAAGCTCTGGGCACATAACAGTGAGTCAGA... |
Task1_train_6161 | The gene SLC6A1 (solute carrier family 6 member 1), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Epilepsy with myoclonic atonic seizures | TGCATGATAGTAAAAAATGACAACATCCTTTCCTGCACCTTTGATTGTCCCATCAGAGCAAATGTTTTTAAAGAAGCATGATATTTTGTGTCCCCCTTTGCAATATCTGCCACCTCATCCTCCTTGTCATTGTCCCTTCTTTTTTGTTTGTTTTATATGTATAAATTTAAGGGACATGAGTGCAATTTTGTTACCTGGATATCTTGTGTAGTGGTGAAGTCTGGGCTTTTAGTGTACCCATCACCACATAATGTACATTCTTTTTTTATTTTTATTTTTATTTATTTTATTTTATTCATTTTTTTGATGGAGTCTTGCTC... | TGCATGATAGTAAAAAATGACAACATCCTTTCCTGCACCTTTGATTGTCCCATCAGAGCAAATGTTTTTAAAGAAGCATGATATTTTGTGTCCCCCTTTGCAATATCTGCCACCTCATCCTCCTTGTCATTGTCCCTTCTTTTTTGTTTGTTTTATATGTATAAATTTAAGGGACATGAGTGCAATTTTGTTACCTGGATATCTTGTGTAGTGGTGAAGTCTGGGCTTTTAGTGTACCCATCACCACATAATGTACATTCTTTTTTTATTTTTATTTTTATTTATTTTATTTTATTCATTTTTTTGATGGAGTCTTGCTC... |
Task1_train_6162 | Here is a variant affecting SLC6A1 (solute carrier family 6 member 1) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Epilepsy with myoclonic atonic seizures | GACAACATCCTTTCCTGCACCTTTGATTGTCCCATCAGAGCAAATGTTTTTAAAGAAGCATGATATTTTGTGTCCCCCTTTGCAATATCTGCCACCTCATCCTCCTTGTCATTGTCCCTTCTTTTTTGTTTGTTTTATATGTATAAATTTAAGGGACATGAGTGCAATTTTGTTACCTGGATATCTTGTGTAGTGGTGAAGTCTGGGCTTTTAGTGTACCCATCACCACATAATGTACATTCTTTTTTTATTTTTATTTTTATTTATTTTATTTTATTCATTTTTTTGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTG... | GACAACATCCTTTCCTGCACCTTTGATTGTCCCATCAGAGCAAATGTTTTTAAAGAAGCATGATATTTTGTGTCCCCCTTTGCAATATCTGCCACCTCATCCTCCTTGTCATTGTCCCTTCTTTTTTGTTTGTTTTATATGTATAAATTTAAGGGACATGAGTGCAATTTTGTTACCTGGATATCTTGTGTAGTGGTGAAGTCTGGGCTTTTAGTGTACCCATCACCACATAATGTACATTCTTTTTTTATTTTTATTTTTATTTATTTTATTTTATTCATTTTTTTGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTG... |
Task1_train_6163 | This gene mutation involves ATG7 (autophagy related 7) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Spinocerebellar ataxia, autosomal recessive 31 | CTTTGATTTTCTCATTGCATAAAAATGAGCAATTTTCACAGATTATATTTCTTTGTTTACAAGAGGATTTTCTCTACAAACTCTCTTGACTGTCCTCCTTCATTCCCCATCTTCCTTCCAGTCTTTTTTCCTTCTACGTGTATTTAGCTCCTACTTTCTGCCAGGCACAATGCAAGGCACAGGGGGTGCAGACAAGAATTTGATAGCCCCTGCTATCAAGAAGTTCTGTAGTGCAGTGTGAGATCCTGTGGCTTTCTTCTCCTCCCCTTAGCCCTTTACCAGATGTTTAATTTTTAAGGCTTTGCAGAAAGCATAAAAAA... | CTTTGATTTTCTCATTGCATAAAAATGAGCAATTTTCACAGATTATATTTCTTTGTTTACAAGAGGATTTTCTCTACAAACTCTCTTGACTGTCCTCCTTCATTCCCCATCTTCCTTCCAGTCTTTTTTCCTTCTACGTGTATTTAGCTCCTACTTTCTGCCAGGCACAATGCAAGGCACAGGGGGTGCAGACAAGAATTTGATAGCCCCTGCTATCAAGAAGTTCTGTAGTGCAGTGTGAGATCCTGTGGCTTTCTTCTCCTCCCCTTAGCCCTTTACCAGATGTTTAATTTTTAAGGCTTTGCAGAAAGCATAAAAAA... |
Task1_train_6164 | An alteration has been detected in ATG7 (autophagy related 7) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Spinocerebellar ataxia, autosomal recessive 31 | AACATTTTATTAGATATATAATAATGTCCTTTGCTCTTACCAATTAACATGTCATTAAAAATGATGCCTGTCTATGAGGCCTTTTTATTTTTTGGGACAGGTTCTGGCTTTGTTGCCCAGGCTGGACTGGACCTTGTGATGTTCCCACCTTGGCCTCCCGAGTAGTCAGGACTGCATGAGTTCACTGCAATGTCTGCTAAAGCTTTATGACTGTAGAATATGCCTTCTGATAGGATGAAACATAACTTACTGAACCCTTCTCCTAATGTTCAGCATTAACATTGTTTCCAGTTTTTTACAATTGTAAATTGTGCTGCAAA... | AACATTTTATTAGATATATAATAATGTCCTTTGCTCTTACCAATTAACATGTCATTAAAAATGATGCCTGTCTATGAGGCCTTTTTATTTTTTGGGACAGGTTCTGGCTTTGTTGCCCAGGCTGGACTGGACCTTGTGATGTTCCCACCTTGGCCTCCCGAGTAGTCAGGACTGCATGAGTTCACTGCAATGTCTGCTAAAGCTTTATGACTGTAGAATATGCCTTCTGATAGGATGAAACATAACTTACTGAACCCTTCTCCTAATGTTCAGCATTAACATTGTTTCCAGTTTTTTACAATTGTAAATTGTGCTGCAAA... |
Task1_train_6165 | The gene ATG7 (autophagy related 7), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Spinocerebellar ataxia, autosomal recessive 31 | TGCCGTCATTGCTGCAAGCAAGAGAAAGGTAGGCCCTGTCTCTAATTATGATTTATGATTTAATGCACCACCACTCCAGAGGGAGGAGTGTCCCTAACCTTCCCTTCCCCAGGGCAGAGATGTGGTTTGTGTGACCTGGTAGCATAGTGCCAAAGGGCTTCTGCTTCAGACTCTGTCTTTGCCTCGCACACCATCACCCAATGTAATAAGTACCATTTACTGCTTAATTTTCATAATAATCTTTTGAGATACTCTACACTGAAAGATATACTGTACTTACATTAAAACGTAAGCTCCAAGAGGACAGAGACTTGGTCTTA... | TGCCGTCATTGCTGCAAGCAAGAGAAAGGTAGGCCCTGTCTCTAATTATGATTTATGATTTAATGCACCACCACTCCAGAGGGAGGAGTGTCCCTAACCTTCCCTTCCCCAGGGCAGAGATGTGGTTTGTGTGACCTGGTAGCATAGTGCCAAAGGGCTTCTGCTTCAGACTCTGTCTTTGCCTCGCACACCATCACCCAATGTAATAAGTACCATTTACTGCTTAATTTTCATAATAATCTTTTGAGATACTCTACACTGAAAGATATACTGTACTTACATTAAAACGTAAGCTCCAAGAGGACAGAGACTTGGTCTTA... |
Task1_train_6166 | A variant affecting Chromosome 3, within the gene ATG7 (autophagy related 7), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Spinocerebellar ataxia, autosomal recessive 31 | CGTCATTGCTGCAAGCAAGAGAAAGGTAGGCCCTGTCTCTAATTATGATTTATGATTTAATGCACCACCACTCCAGAGGGAGGAGTGTCCCTAACCTTCCCTTCCCCAGGGCAGAGATGTGGTTTGTGTGACCTGGTAGCATAGTGCCAAAGGGCTTCTGCTTCAGACTCTGTCTTTGCCTCGCACACCATCACCCAATGTAATAAGTACCATTTACTGCTTAATTTTCATAATAATCTTTTGAGATACTCTACACTGAAAGATATACTGTACTTACATTAAAACGTAAGCTCCAAGAGGACAGAGACTTGGTCTTATTC... | CGTCATTGCTGCAAGCAAGAGAAAGGTAGGCCCTGTCTCTAATTATGATTTATGATTTAATGCACCACCACTCCAGAGGGAGGAGTGTCCCTAACCTTCCCTTCCCCAGGGCAGAGATGTGGTTTGTGTGACCTGGTAGCATAGTGCCAAAGGGCTTCTGCTTCAGACTCTGTCTTTGCCTCGCACACCATCACCCAATGTAATAAGTACCATTTACTGCTTAATTTTCATAATAATCTTTTGAGATACTCTACACTGAAAGATATACTGTACTTACATTAAAACGTAAGCTCCAAGAGGACAGAGACTTGGTCTTATTC... |
Task1_train_6167 | This mutation occurs in ATG7 (autophagy related 7) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Spinocerebellar ataxia, autosomal recessive 31 | CAAATATTTCCTATCACCAACTTGTACACTGAGGCAGACCGACTTGGCCCTTTCATTTATGACTATTTAAATATTATCTTTTAACAAAGAGAAGAATTCTCCAATTTGGGGAGGATGGCATTATCTCATTATGAACCTTGACTGGCGTCATCAACTGTACACCTGTTCCTTGTTCACCAATATAAACGCGGCTACAAACCATATTTTTGGAAAGCTTATTGAGGAAACCACAGCAGACTAGTCCCTGATAGCACTCCGTATTGTCTCCGGTGCTTCTCTTAGTCAAGATAACATTACAAATCAGGAGTCTAAAGACCAGA... | CAAATATTTCCTATCACCAACTTGTACACTGAGGCAGACCGACTTGGCCCTTTCATTTATGACTATTTAAATATTATCTTTTAACAAAGAGAAGAATTCTCCAATTTGGGGAGGATGGCATTATCTCATTATGAACCTTGACTGGCGTCATCAACTGTACACCTGTTCCTTGTTCACCAATATAAACGCGGCTACAAACCATATTTTTGGAAAGCTTATTGAGGAAACCACAGCAGACTAGTCCCTGATAGCACTCCGTATTGTCTCCGGTGCTTCTCTTAGTCAAGATAACATTACAAATCAGGAGTCTAAAGACCAGA... |
Task1_train_6168 | A variant has been detected on Chromosome 3 in ATG7, LOC126806603 (autophagy related 7| CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:11405755-11406954). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Spinocerebellar ataxia, autosomal recessive 31 | CTGGATGTTCTTTGCCAACAATGAGCATCTGGTTATAATTTAAAGCTTTGTCACAGAGGATTTCATACTTGAGACAGCTAGAGTTGAATGGAGTAGAACGTTCTGCACACACCAATGATTGTTTCTTTGCAGTCAACCAGAGACCGGACCTTGGACCAGCAGTGCACTGTGAGTCGTCCAGGACTGGCCGTGATTGCAGGAGCCCTGGCCGTGGAATTGATGGTATCTGTTTTGCAGCATCCAGAAGGGTGAGTTTGCTAGTAGGAGATGAGTATTTAAACAAAGCTTTTGTAGGCAGTTGTTCATCAGTGTCTCCCATG... | CTGGATGTTCTTTGCCAACAATGAGCATCTGGTTATAATTTAAAGCTTTGTCACAGAGGATTTCATACTTGAGACAGCTAGAGTTGAATGGAGTAGAACGTTCTGCACACACCAATGATTGTTTCTTTGCAGTCAACCAGAGACCGGACCTTGGACCAGCAGTGCACTGTGAGTCGTCCAGGACTGGCCGTGATTGCAGGAGCCCTGGCCGTGGAATTGATGGTATCTGTTTTGCAGCATCCAGAAGGGTGAGTTTGCTAGTAGGAGATGAGTATTTAAACAAAGCTTTTGTAGGCAGTTGTTCATCAGTGTCTCCCATG... |
Task1_train_6169 | Gene TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Combined oxidative phosphorylation deficiency 56 | AAGGCTATGGAAATCTGTCATTTTTCCCATAGATAGCTACAGAAGCAGCACATCACTGTTGGGGGAGACACTCGAGAACAATCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGT... | AAGGCTATGGAAATCTGTCATTTTTCCCATAGATAGCTACAGAAGCAGCACATCACTGTTGGGGGAGACACTCGAGAACAATCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGT... |
Task1_train_6170 | Mutation context: Chromosome 3, Gene TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Dysphagia | TCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGTTTGTTTCCTGTTTCTACTAAAGCCCAGGGAGAAGCCGACTCCCCACAGCCTCCTCTAGCTGTGTCCCAAAAGAGCTAAGAC... | TCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGTTTGTTTCCTGTTTCTACTAAAGCCCAGGGAGAAGCCGACTCCCCACAGCCTCCTCTAGCTGTGTCCCAAAAGAGCTAAGAC... |
Task1_train_6171 | A variant has been detected on Chromosome 3 in TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Bilateral ptosis | TCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGTTTGTTTCCTGTTTCTACTAAAGCCCAGGGAGAAGCCGACTCCCCACAGCCTCCTCTAGCTGTGTCCCAAAAGAGCTAAGAC... | TCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGTTTGTTTCCTGTTTCTACTAAAGCCCAGGGAGAAGCCGACTCCCCACAGCCTCCTCTAGCTGTGTCCCAAAAGAGCTAAGAC... |
Task1_train_6172 | A genomic change on Chromosome 3 affects TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Gastroesophageal reflux | TCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGTTTGTTTCCTGTTTCTACTAAAGCCCAGGGAGAAGCCGACTCCCCACAGCCTCCTCTAGCTGTGTCCCAAAAGAGCTAAGAC... | TCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGTTTGTTTCCTGTTTCTACTAAAGCCCAGGGAGAAGCCGACTCCCCACAGCCTCCTCTAGCTGTGTCCCAAAAGAGCTAAGAC... |
Task1_train_6173 | The following genetic variant occurs in TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Respiratory failure | TCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGTTTGTTTCCTGTTTCTACTAAAGCCCAGGGAGAAGCCGACTCCCCACAGCCTCCTCTAGCTGTGTCCCAAAAGAGCTAAGAC... | TCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGTTTGTTTCCTGTTTCTACTAAAGCCCAGGGAGAAGCCGACTCCCCACAGCCTCCTCTAGCTGTGTCCCAAAAGAGCTAAGAC... |
Task1_train_6174 | Consider a variant on Chromosome 3 in gene TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog). Determine its clinical classification and disease relevance. | Pathogenic; Combined oxidative phosphorylation deficiency 56 | TCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGTTTGTTTCCTGTTTCTACTAAAGCCCAGGGAGAAGCCGACTCCCCACAGCCTCCTCTAGCTGTGTCCCAAAAGAGCTAAGAC... | TCTATCGGCCTCTTGTGGAGCCTGGGACCCTCTCACGCACAGTGAAAATCTTCCTTATAGTAGGAAGTGTGAGATTAGCAACTGTAAATATTTAACACAGTCCTCAAACTATGGAAAGACCCTTTCTCAGAGCACAGACTGATTATCTGGAAAAAAAAAAAGAAGAAAGAAAAGTGACATTGCAAATACTTGTTAAAAGTTTAAGTTCTCTCCCACTTTTTTTTTTTCCTGTTTTGTGTTTGTTTCCTGTTTCTACTAAAGCCCAGGGAGAAGCCGACTCCCCACAGCCTCCTCTAGCTGTGTCCCAAAAGAGCTAAGAC... |
Task1_train_6175 | This mutation occurs in TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Combined oxidative phosphorylation deficiency | CTCCAACCTCCTGCCCTTTAAAGCGTGGGCCTTTGACCAATGGCATTGGCATCACTTGGGAGCTTATAACAAATGCAGAATTACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCACTCTACTAAAAACACAAAAAATTAGCTGGACATGATTACAGTAGTGGGCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCGCACCATTGCACTC... | CTCCAACCTCCTGCCCTTTAAAGCGTGGGCCTTTGACCAATGGCATTGGCATCACTTGGGAGCTTATAACAAATGCAGAATTACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCACTCTACTAAAAACACAAAAAATTAGCTGGACATGATTACAGTAGTGGGCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCGCACCATTGCACTC... |
Task1_train_6176 | Consider this mutation in TAMM41 (TAM41 mitochondrial translocator assembly and maintenance homolog) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Combined oxidative phosphorylation deficiency 56 | CTCCAACCTCCTGCCCTTTAAAGCGTGGGCCTTTGACCAATGGCATTGGCATCACTTGGGAGCTTATAACAAATGCAGAATTACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCACTCTACTAAAAACACAAAAAATTAGCTGGACATGATTACAGTAGTGGGCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCGCACCATTGCACTC... | CTCCAACCTCCTGCCCTTTAAAGCGTGGGCCTTTGACCAATGGCATTGGCATCACTTGGGAGCTTATAACAAATGCAGAATTACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACGGGTGGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCACTCTACTAAAAACACAAAAAATTAGCTGGACATGATTACAGTAGTGGGCTCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCAGAGATCGCACCATTGCACTC... |
Task1_train_6177 | A genomic change on Chromosome 3 affects PPARG (peroxisome proliferator activated receptor gamma). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; PPARG-related familial partial lipodystrophy | TTTTTTGAGACAATGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGTGCAATCATAACTTGGCTTACTGCAGTTAGACCTCCTGGGCTCATGTGATCCTTCCATCTCAGCCGCCAGAGTAGTAGCTGTGACTACAGGCGCATGCCACCACACCTGCCTAAATTTTTTGTATTTTTTTATAGAGACAAGGTTTCACCTTGTTGCCCAGGCTAGTCTCGAACTCCTGGACTCAAGCGATCAATCCGCCTCAGTCTGTCAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCCAGCCTATATTTTCTTAAAGATCAAGG... | TTTTTTGAGACAATGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGTGCAATCATAACTTGGCTTACTGCAGTTAGACCTCCTGGGCTCATGTGATCCTTCCATCTCAGCCGCCAGAGTAGTAGCTGTGACTACAGGCGCATGCCACCACACCTGCCTAAATTTTTTGTATTTTTTTATAGAGACAAGGTTTCACCTTGTTGCCCAGGCTAGTCTCGAACTCCTGGACTCAAGCGATCAATCCGCCTCAGTCTGTCAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCCAGCCTATATTTTCTTAAAGATCAAGG... |
Task1_train_6178 | A mutation on Chromosome 3 affecting PPARG (peroxisome proliferator activated receptor gamma) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; PPARG-related familial partial lipodystrophy | ATGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGTGCAATCATAACTTGGCTTACTGCAGTTAGACCTCCTGGGCTCATGTGATCCTTCCATCTCAGCCGCCAGAGTAGTAGCTGTGACTACAGGCGCATGCCACCACACCTGCCTAAATTTTTTGTATTTTTTTATAGAGACAAGGTTTCACCTTGTTGCCCAGGCTAGTCTCGAACTCCTGGACTCAAGCGATCAATCCGCCTCAGTCTGTCAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCCAGCCTATATTTTCTTAAAGATCAAGGAAATGACAAACC... | ATGTCTCACTCTGTCACCCAGACTGGAGTGCAGTGGTGCAATCATAACTTGGCTTACTGCAGTTAGACCTCCTGGGCTCATGTGATCCTTCCATCTCAGCCGCCAGAGTAGTAGCTGTGACTACAGGCGCATGCCACCACACCTGCCTAAATTTTTTGTATTTTTTTATAGAGACAAGGTTTCACCTTGTTGCCCAGGCTAGTCTCGAACTCCTGGACTCAAGCGATCAATCCGCCTCAGTCTGTCAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCCAGCCTATATTTTCTTAAAGATCAAGGAAATGACAAACC... |
Task1_train_6179 | Mutation context: Chromosome 3, Gene PPARG (peroxisome proliferator activated receptor gamma). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Carcinoma of colon | TCCTTAAAAATTAGAGCCACCAAGTAAACCTGTTTGGGGGTCCTCACATCTGTCCTCTTTTGGAGTTTGCTAAGTAGTACAGTTGAAGTGAATTTTTTGGTAACAAAAGTAAAAACTTCCAGAATAACTCCAGTAAAGGGTGTTGATGTGACGTACAAGTTTGGAAATATATTTAATATCTGAGACTCCTCAATGTTGGTGTTATTTCCTCCAGTTTAGAACAAACTTAATCTTTTGATGAAAATCATAGAGTTCCATAGATATGAATAGAATCTCCAACCAGTGCATCTTGAAGCCGGCTGCCACGGCCACTCATGCAC... | TCCTTAAAAATTAGAGCCACCAAGTAAACCTGTTTGGGGGTCCTCACATCTGTCCTCTTTTGGAGTTTGCTAAGTAGTACAGTTGAAGTGAATTTTTTGGTAACAAAAGTAAAAACTTCCAGAATAACTCCAGTAAAGGGTGTTGATGTGACGTACAAGTTTGGAAATATATTTAATATCTGAGACTCCTCAATGTTGGTGTTATTTCCTCCAGTTTAGAACAAACTTAATCTTTTGATGAAAATCATAGAGTTCCATAGATATGAATAGAATCTCCAACCAGTGCATCTTGAAGCCGGCTGCCACGGCCACTCATGCAC... |
Task1_train_6180 | The gene PPARG (peroxisome proliferator activated receptor gamma) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; PPARG-related disorder | AAAATTAGAGCCACCAAGTAAACCTGTTTGGGGGTCCTCACATCTGTCCTCTTTTGGAGTTTGCTAAGTAGTACAGTTGAAGTGAATTTTTTGGTAACAAAAGTAAAAACTTCCAGAATAACTCCAGTAAAGGGTGTTGATGTGACGTACAAGTTTGGAAATATATTTAATATCTGAGACTCCTCAATGTTGGTGTTATTTCCTCCAGTTTAGAACAAACTTAATCTTTTGATGAAAATCATAGAGTTCCATAGATATGAATAGAATCTCCAACCAGTGCATCTTGAAGCCGGCTGCCACGGCCACTCATGCACCTTCTC... | AAAATTAGAGCCACCAAGTAAACCTGTTTGGGGGTCCTCACATCTGTCCTCTTTTGGAGTTTGCTAAGTAGTACAGTTGAAGTGAATTTTTTGGTAACAAAAGTAAAAACTTCCAGAATAACTCCAGTAAAGGGTGTTGATGTGACGTACAAGTTTGGAAATATATTTAATATCTGAGACTCCTCAATGTTGGTGTTATTTCCTCCAGTTTAGAACAAACTTAATCTTTTGATGAAAATCATAGAGTTCCATAGATATGAATAGAATCTCCAACCAGTGCATCTTGAAGCCGGCTGCCACGGCCACTCATGCACCTTCTC... |
Task1_train_6181 | This variant affects gene PPARG (peroxisome proliferator activated receptor gamma) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; PPARG-related familial partial lipodystrophy | TAGAGCCACCAAGTAAACCTGTTTGGGGGTCCTCACATCTGTCCTCTTTTGGAGTTTGCTAAGTAGTACAGTTGAAGTGAATTTTTTGGTAACAAAAGTAAAAACTTCCAGAATAACTCCAGTAAAGGGTGTTGATGTGACGTACAAGTTTGGAAATATATTTAATATCTGAGACTCCTCAATGTTGGTGTTATTTCCTCCAGTTTAGAACAAACTTAATCTTTTGATGAAAATCATAGAGTTCCATAGATATGAATAGAATCTCCAACCAGTGCATCTTGAAGCCGGCTGCCACGGCCACTCATGCACCTTCTCTCCTT... | TAGAGCCACCAAGTAAACCTGTTTGGGGGTCCTCACATCTGTCCTCTTTTGGAGTTTGCTAAGTAGTACAGTTGAAGTGAATTTTTTGGTAACAAAAGTAAAAACTTCCAGAATAACTCCAGTAAAGGGTGTTGATGTGACGTACAAGTTTGGAAATATATTTAATATCTGAGACTCCTCAATGTTGGTGTTATTTCCTCCAGTTTAGAACAAACTTAATCTTTTGATGAAAATCATAGAGTTCCATAGATATGAATAGAATCTCCAACCAGTGCATCTTGAAGCCGGCTGCCACGGCCACTCATGCACCTTCTCTCCTT... |
Task1_train_6182 | Here is a genetic alteration in PPARG (peroxisome proliferator activated receptor gamma) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; PPARG-related familial partial lipodystrophy | AACTTAATCTTTTGATGAAAATCATAGAGTTCCATAGATATGAATAGAATCTCCAACCAGTGCATCTTGAAGCCGGCTGCCACGGCCACTCATGCACCTTCTCTCCTTTCAGGAGAGAATTGTCAGCATCTCTGCTCAAAACAATCTTTACTTTTAGTCCATCAGAGACTTCATGTTTGTCGTGCATGCACACTCACACCTCTCCACACATATGCCCACTCCCCACACACATCCTGCTTCTGAGAAATGCAACTAGAATTTCCTCCGGAGAAGAGATGGAAACCCCTGATTGAGAAATTTAAGGCCTAGGAAAGGTAAAT... | AACTTAATCTTTTGATGAAAATCATAGAGTTCCATAGATATGAATAGAATCTCCAACCAGTGCATCTTGAAGCCGGCTGCCACGGCCACTCATGCACCTTCTCTCCTTTCAGGAGAGAATTGTCAGCATCTCTGCTCAAAACAATCTTTACTTTTAGTCCATCAGAGACTTCATGTTTGTCGTGCATGCACACTCACACCTCTCCACACATATGCCCACTCCCCACACACATCCTGCTTCTGAGAAATGCAACTAGAATTTCCTCCGGAGAAGAGATGGAAACCCCTGATTGAGAAATTTAAGGCCTAGGAAAGGTAAAT... |
Task1_train_6183 | With a mutation on Chromosome 3 in gene PPARG (peroxisome proliferator activated receptor gamma), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | ATCACCTGAACCCAGGAGTTGGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTGGGCAACAGATTAAGACTCTGTCACAAAAAAAAAAGCGTTAAGTTAAGGAGCGTGAATAAAAATAATACATTTCATATTCTAAGACAATATCATCTACAACTTTATTCCAATATAAATTACTAAAACTTTACCATATAAGTAGTAGAAAGCCTGAATAGATAAAAGCTATGGAAGAAAAATTAAAGATAGTGATAGATTTATCACCAAGCTCAGATGGTTCTGCAAACAAATTCTAAGAAACCGTCAGGGAACAGATCATTACT... | ATCACCTGAACCCAGGAGTTGGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTGGGCAACAGATTAAGACTCTGTCACAAAAAAAAAAGCGTTAAGTTAAGGAGCGTGAATAAAAATAATACATTTCATATTCTAAGACAATATCATCTACAACTTTATTCCAATATAAATTACTAAAACTTTACCATATAAGTAGTAGAAAGCCTGAATAGATAAAAGCTATGGAAGAAAAATTAAAGATAGTGATAGATTTATCACCAAGCTCAGATGGTTCTGCAAACAAATTCTAAGAAACCGTCAGGGAACAGATCATTACT... |
Task1_train_6184 | Given this variant in gene PPARG (peroxisome proliferator activated receptor gamma) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Type 2 diabetes mellitus | TCACCTGAACCCAGGAGTTGGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTGGGCAACAGATTAAGACTCTGTCACAAAAAAAAAAGCGTTAAGTTAAGGAGCGTGAATAAAAATAATACATTTCATATTCTAAGACAATATCATCTACAACTTTATTCCAATATAAATTACTAAAACTTTACCATATAAGTAGTAGAAAGCCTGAATAGATAAAAGCTATGGAAGAAAAATTAAAGATAGTGATAGATTTATCACCAAGCTCAGATGGTTCTGCAAACAAATTCTAAGAAACCGTCAGGGAACAGATCATTACTG... | TCACCTGAACCCAGGAGTTGGAGGCTGCAGTGAGCCATGATCATGCCACTGCACTGGGCAACAGATTAAGACTCTGTCACAAAAAAAAAAGCGTTAAGTTAAGGAGCGTGAATAAAAATAATACATTTCATATTCTAAGACAATATCATCTACAACTTTATTCCAATATAAATTACTAAAACTTTACCATATAAGTAGTAGAAAGCCTGAATAGATAAAAGCTATGGAAGAAAAATTAAAGATAGTGATAGATTTATCACCAAGCTCAGATGGTTCTGCAAACAAATTCTAAGAAACCGTCAGGGAACAGATCATTACTG... |
Task1_train_6185 | Here is a genetic alteration in TSEN2 (tRNA splicing endonuclease subunit 2) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | AGAAAATCTCTTAGGTTTCCTGTGAGCATGCAGTAGACGTGGTTTTGTTATAAACACTATACAGCAAGATGCATGCATAAATATAAAATGTACAAAGTAATGCTCAGTATGTAATTCCTTCAAGGAACCTTATTTAGAAATTAATCTAGCATGTTGCTGCTTAGAACAATGGCAATTCTAGGAAGGTTCCAACTTCCCGATTCTTCTTTTTCATGGTTATCTTTGTAATTGATGTATCATTTCCTCTAACTCCTCTTTAGTCTGTGTTTTTCTGTGTCCTCATATAATTCCTCAGCTTCTTCCTTGAGAAGTTGGATACT... | AGAAAATCTCTTAGGTTTCCTGTGAGCATGCAGTAGACGTGGTTTTGTTATAAACACTATACAGCAAGATGCATGCATAAATATAAAATGTACAAAGTAATGCTCAGTATGTAATTCCTTCAAGGAACCTTATTTAGAAATTAATCTAGCATGTTGCTGCTTAGAACAATGGCAATTCTAGGAAGGTTCCAACTTCCCGATTCTTCTTTTTCATGGTTATCTTTGTAATTGATGTATCATTTCCTCTAACTCCTCTTTAGTCTGTGTTTTTCTGTGTCCTCATATAATTCCTCAGCTTCTTCCTTGAGAAGTTGGATACT... |
Task1_train_6186 | Gene TSEN2 (tRNA splicing endonuclease subunit 2), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pontocerebellar hypoplasia type 2B | CTAGATTAGGATTTGGGTAAAACTAAAGTAGTGGTCCCTCGTATCTGTCAGTGTTTATCAAATTATAAATTAAAACAAAAATGTTGAGTATCAGTTTAACACATTTAAAAATAATAATAGTGATGTCTTCAACAGCACATATACTAAAATTGGAACAATGCAGAGATTAGTATGACCCCTGCCCACGGATGACACAAGTTTGTGAAGCCTTCCATATTAAAAACAACAACAACAACAACCCATACCTTGACATAAATACTTTAATGTAAGTTTTTTATGAAAAATAACTAATTTTCCAAAACAAAAAATTTGGAAGAGGC... | CTAGATTAGGATTTGGGTAAAACTAAAGTAGTGGTCCCTCGTATCTGTCAGTGTTTATCAAATTATAAATTAAAACAAAAATGTTGAGTATCAGTTTAACACATTTAAAAATAATAATAGTGATGTCTTCAACAGCACATATACTAAAATTGGAACAATGCAGAGATTAGTATGACCCCTGCCCACGGATGACACAAGTTTGTGAAGCCTTCCATATTAAAAACAACAACAACAACAACCCATACCTTGACATAAATACTTTAATGTAAGTTTTTTATGAAAAATAACTAATTTTCCAAAACAAAAAATTTGGAAGAGGC... |
Task1_train_6187 | Here’s a variant in RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; RASopathy | GATCTTTTCTTCCCCAGAAATAGTAAACTTGCAGCTGCCCCTAATGCAGCATATTTTTCTTACCAAAGGAGTCTTCAGCCCTATAAAAGGATTCCTCTATAGTGTATTTCTCTAGTGTATTTAGTGTGTCGTCAAAATTTTGATTTATACAGAGCTTTCAAGAACACACAATGCAAAGTGAGCGCAGCATAGCTGTTAACAAACATACAACTTTTTTCTAGGGCTTTAAGGGTGGTCATTTTTTTCAAGTTCTCTCAAGTGTCCCAAATCAGGGTAGCAATCTTGTTGCCACATGTGCAGCAAACAAAGTGGAAGTATAG... | GATCTTTTCTTCCCCAGAAATAGTAAACTTGCAGCTGCCCCTAATGCAGCATATTTTTCTTACCAAAGGAGTCTTCAGCCCTATAAAAGGATTCCTCTATAGTGTATTTCTCTAGTGTATTTAGTGTGTCGTCAAAATTTTGATTTATACAGAGCTTTCAAGAACACACAATGCAAAGTGAGCGCAGCATAGCTGTTAACAAACATACAACTTTTTTCTAGGGCTTTAAGGGTGGTCATTTTTTTCAAGTTCTCTCAAGTGTCCCAAATCAGGGTAGCAATCTTGTTGCCACATGTGCAGCAAACAAAGTGGAAGTATAG... |
Task1_train_6188 | A variant was discovered in gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Dilated cardiomyopathy 1NN | TGCAGCTGCCCCTAATGCAGCATATTTTTCTTACCAAAGGAGTCTTCAGCCCTATAAAAGGATTCCTCTATAGTGTATTTCTCTAGTGTATTTAGTGTGTCGTCAAAATTTTGATTTATACAGAGCTTTCAAGAACACACAATGCAAAGTGAGCGCAGCATAGCTGTTAACAAACATACAACTTTTTTCTAGGGCTTTAAGGGTGGTCATTTTTTTCAAGTTCTCTCAAGTGTCCCAAATCAGGGTAGCAATCTTGTTGCCACATGTGCAGCAAACAAAGTGGAAGTATAGATCTTCTTCTCCCTTAGGGAGGCTCTTGA... | TGCAGCTGCCCCTAATGCAGCATATTTTTCTTACCAAAGGAGTCTTCAGCCCTATAAAAGGATTCCTCTATAGTGTATTTCTCTAGTGTATTTAGTGTGTCGTCAAAATTTTGATTTATACAGAGCTTTCAAGAACACACAATGCAAAGTGAGCGCAGCATAGCTGTTAACAAACATACAACTTTTTTCTAGGGCTTTAAGGGTGGTCATTTTTTTCAAGTTCTCTCAAGTGTCCCAAATCAGGGTAGCAATCTTGTTGCCACATGTGCAGCAAACAAAGTGGAAGTATAGATCTTCTTCTCCCTTAGGGAGGCTCTTGA... |
Task1_train_6189 | A mutation found in RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; RASopathy | CCAAATCATCAAGAAAACCTGTATTCCTGGCTTCCTTGTATACACATGATGTGACTAGAGAAACAAGGCTGTTTGTTTGTTTGTTTGTTAGAGAAACAAGGCTGGCCCTGCGGCCCCGCCCCATAGGGGCAGCTCCTGGAAGACAAAATTCAGCATGATGGAAGACTGCTCCCTGAGAGGGCTGAGATGCGGATTGGCCGAGTGCCTTGCCTGGAAAACCATCCCAATGCACTGGACACCTTAGAAGCTGTGAAAGGAGGACGTGTCCCCTAAGAAAAGTTCCATAGTACCAAAGCAGGCTCCTTCGGGCGGCCAGAGTC... | CCAAATCATCAAGAAAACCTGTATTCCTGGCTTCCTTGTATACACATGATGTGACTAGAGAAACAAGGCTGTTTGTTTGTTTGTTTGTTAGAGAAACAAGGCTGGCCCTGCGGCCCCGCCCCATAGGGGCAGCTCCTGGAAGACAAAATTCAGCATGATGGAAGACTGCTCCCTGAGAGGGCTGAGATGCGGATTGGCCGAGTGCCTTGCCTGGAAAACCATCCCAATGCACTGGACACCTTAGAAGCTGTGAAAGGAGGACGTGTCCCCTAAGAAAAGTTCCATAGTACCAAAGCAGGCTCCTTCGGGCGGCCAGAGTC... |
Task1_train_6190 | This variant affects the gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; RASopathy | GACCTAAGTGGCAGGTGTTTGGGTCATGGGGATGGATTCCTCACAAACGGCTCGGTGGCCTCCCTGCAGTAACGAGTGAGTTCACACACTATTAGCTCACATGAAACCTGGTTATTAAAGAGTCTGGGACCTCCCTCCATGCTCTCTCTCTTGCTCCTTTCTCTCACCACATCACACGTGGCTCCCCTTGCCTTCTGCCATGAGTGAAAGCTTCCTGAGGGCCTCACCAGACACAGATGCTGGTGTCATGCTTTTTGTACAGTCTGCAGAACCCCGAGTCAAATAAACCTCTTTTCTTTATAAATTACCCACCCTTAGGT... | GACCTAAGTGGCAGGTGTTTGGGTCATGGGGATGGATTCCTCACAAACGGCTCGGTGGCCTCCCTGCAGTAACGAGTGAGTTCACACACTATTAGCTCACATGAAACCTGGTTATTAAAGAGTCTGGGACCTCCCTCCATGCTCTCTCTCTTGCTCCTTTCTCTCACCACATCACACGTGGCTCCCCTTGCCTTCTGCCATGAGTGAAAGCTTCCTGAGGGCCTCACCAGACACAGATGCTGGTGTCATGCTTTTTGTACAGTCTGCAGAACCCCGAGTCAAATAAACCTCTTTTCTTTATAAATTACCCACCCTTAGGT... |
Task1_train_6191 | Chromosome 3 houses a mutation in gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Noonan syndrome and Noonan-related syndrome | GACCTAAGTGGCAGGTGTTTGGGTCATGGGGATGGATTCCTCACAAACGGCTCGGTGGCCTCCCTGCAGTAACGAGTGAGTTCACACACTATTAGCTCACATGAAACCTGGTTATTAAAGAGTCTGGGACCTCCCTCCATGCTCTCTCTCTTGCTCCTTTCTCTCACCACATCACACGTGGCTCCCCTTGCCTTCTGCCATGAGTGAAAGCTTCCTGAGGGCCTCACCAGACACAGATGCTGGTGTCATGCTTTTTGTACAGTCTGCAGAACCCCGAGTCAAATAAACCTCTTTTCTTTATAAATTACCCACCCTTAGGT... | GACCTAAGTGGCAGGTGTTTGGGTCATGGGGATGGATTCCTCACAAACGGCTCGGTGGCCTCCCTGCAGTAACGAGTGAGTTCACACACTATTAGCTCACATGAAACCTGGTTATTAAAGAGTCTGGGACCTCCCTCCATGCTCTCTCTCTTGCTCCTTTCTCTCACCACATCACACGTGGCTCCCCTTGCCTTCTGCCATGAGTGAAAGCTTCCTGAGGGCCTCACCAGACACAGATGCTGGTGTCATGCTTTTTGTACAGTCTGCAGAACCCCGAGTCAAATAAACCTCTTTTCTTTATAAATTACCCACCCTTAGGT... |
Task1_train_6192 | A change on Chromosome 3 affects gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | GACCTAAGTGGCAGGTGTTTGGGTCATGGGGATGGATTCCTCACAAACGGCTCGGTGGCCTCCCTGCAGTAACGAGTGAGTTCACACACTATTAGCTCACATGAAACCTGGTTATTAAAGAGTCTGGGACCTCCCTCCATGCTCTCTCTCTTGCTCCTTTCTCTCACCACATCACACGTGGCTCCCCTTGCCTTCTGCCATGAGTGAAAGCTTCCTGAGGGCCTCACCAGACACAGATGCTGGTGTCATGCTTTTTGTACAGTCTGCAGAACCCCGAGTCAAATAAACCTCTTTTCTTTATAAATTACCCACCCTTAGGT... | GACCTAAGTGGCAGGTGTTTGGGTCATGGGGATGGATTCCTCACAAACGGCTCGGTGGCCTCCCTGCAGTAACGAGTGAGTTCACACACTATTAGCTCACATGAAACCTGGTTATTAAAGAGTCTGGGACCTCCCTCCATGCTCTCTCTCTTGCTCCTTTCTCTCACCACATCACACGTGGCTCCCCTTGCCTTCTGCCATGAGTGAAAGCTTCCTGAGGGCCTCACCAGACACAGATGCTGGTGTCATGCTTTTTGTACAGTCTGCAGAACCCCGAGTCAAATAAACCTCTTTTCTTTATAAATTACCCACCCTTAGGT... |
Task1_train_6193 | Consider a variant on Chromosome 3 in gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase). Determine its clinical classification and disease relevance. | Pathogenic; RASopathy | CTTTGGGAGGCCGAGGCAGGCGGATCGCTTGAGCTCATGATTTCGAGACCAGTCTAGGAAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTAGCTTGAGCCCAGGAGGCAGAGACTGCAGTAAGCCAAGATTGTGCCACTACTCCAGCCTGGGCAACAGAGCCAGATCTTGTCTCTAAATACATATAAATAAATATTCTACAACAGTATCATTTCTCTGGGACCCAGGAGACAGCCCAGTAGTACAT... | CTTTGGGAGGCCGAGGCAGGCGGATCGCTTGAGCTCATGATTTCGAGACCAGTCTAGGAAACATGGCGAAACCCCATCTCTACAAAAAATACAAAAATTAGCCGGGTGTGGTGGCATGTGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTAGCTTGAGCCCAGGAGGCAGAGACTGCAGTAAGCCAAGATTGTGCCACTACTCCAGCCTGGGCAACAGAGCCAGATCTTGTCTCTAAATACATATAAATAAATATTCTACAACAGTATCATTTCTCTGGGACCCAGGAGACAGCCCAGTAGTACAT... |
Task1_train_6194 | This is a variant in RAF1 (Raf-1 proto-oncogene, serine/threonine kinase), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Noonan syndrome | TTATTCTGTGCTAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTA... | TTATTCTGTGCTAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTA... |
Task1_train_6195 | This alteration occurs within gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Noonan syndrome | CTGTGCTAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCT... | CTGTGCTAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCT... |
Task1_train_6196 | Here is a genetic alteration in RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; RASopathy | CTAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGC... | CTAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGC... |
Task1_train_6197 | Gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Noonan syndrome and Noonan-related syndrome | CTAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGC... | CTAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGC... |
Task1_train_6198 | A variant was discovered in gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; RASopathy | CTAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGC... | CTAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGC... |
Task1_train_6199 | The gene RAF1 (Raf-1 proto-oncogene, serine/threonine kinase) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; RASopathy | TAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGCC... | TAATTTCTATAGTTGGATCAATTTATTCTAGAAAGAATTTTCCTATTGTTCCTGGAGTCTAAATACTCAAGAGAACTATGAATAATTTGAGACCCACAAATAATTTGAATAAAGCAACAATTAGTCTACTTTAAAAATGCTGACTTATATGTGATTAAATTAACAGGAATCAAAATTTACCCTGCTTCTAAAGTAAAAAATGATTAGGCACAACAATTGTGCTAATTCTTTTATAATAAAAACTCAAAAATTCTTACTTGACACAATCATACACAGCTCACTACAACCTCAAACTCCTGGGCTCAAGTAATCCTCCTGCC... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.