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_28400 | Located on Chromosome 21, this mutation impacts CBS (cystathionine beta-synthase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Homocystinuria | TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTG... | TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTG... |
Task1_train_28401 | Mutation context: Chromosome 21, Gene CBS (cystathionine beta-synthase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Classic homocystinuria | TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTG... | TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTG... |
Task1_train_28402 | Here is a genetic alteration in CBS (cystathionine beta-synthase) on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTG... | TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTG... |
Task1_train_28403 | This variant affects gene CBS (cystathionine beta-synthase) located on Chromosome 21. Evaluate its biological effect and specify any disease association. | Pathogenic; Homocystinuria | TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTG... | TGGCCTGTTCCCAGCCTCAGAGGCAGGATGAGAAACCCAAGAACCCAGGCTCCAAGTATTAAAGCGGTAATGACCTAAATGTTCAGTGCAGGGCGCTCAGAAGTAAAGGCAGGTGCCTGGGAGGAACTGACCTCCCCGGGGTGCTTCTCGGAGCGGGGCCCCCAGGACAGTCCAGACAGACCACCCTGCGGCGGAGCAGCAGAGCCTTTGGGGACAAAGGGCATTGCTGGGCAGTGACGTCTTTTTCAAGGGCAAGCAACAGGGAGAGAACGCCCTTGTCTCATCAGCGGGACCTTTCTAGGCACCCGTCCTCAGACCTG... |
Task1_train_28404 | Assess the clinical impact of this variant on gene CBS (cystathionine beta-synthase), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | CAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACAC... | CAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACAC... |
Task1_train_28405 | This sequence variant lies in CBS (cystathionine beta-synthase) on Chromosome 21. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Homocystinuria | CAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACAC... | CAGTTGAGGGGCAGACTCAGGACCAGAGGACTTAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACAC... |
Task1_train_28406 | This variant impacts the gene CBS (cystathionine beta-synthase) on Chromosome 21. Is the change likely to result in a pathogenic outcome? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTC... | TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTC... |
Task1_train_28407 | A mutation on Chromosome 21 affecting CBS (cystathionine beta-synthase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Classic homocystinuria | TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTC... | TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTC... |
Task1_train_28408 | A variant was discovered in gene CBS (cystathionine beta-synthase), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Homocystinuria | TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTC... | TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTC... |
Task1_train_28409 | The gene CBS (cystathionine beta-synthase) is located on Chromosome 21, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTC... | TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTC... |
Task1_train_28410 | A mutation on Chromosome 21 affecting CBS (cystathionine beta-synthase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; See cases | TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTC... | TAGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTC... |
Task1_train_28411 | A mutation in CBS (cystathionine beta-synthase), located on Chromosome 21, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | AGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCA... | AGAGCTCCTGGCTGATCCTCAGAGGCCCCCAGTTGGAACTCCGACCCCCCACTCAGCGCAGGAAGGTTCTCCAAGACACTGGCCGGTGAGCGAGCACCCAGCCCCAGCTCCTTCGGGTCACGAGCTGCTGGTCCCTTATGTGTCAAGCACCCTTGTCTTCCCAAACACCTCCCAGGCAGCGCAGAAATACCGCGGGAGACAGCGTGCTGAGCAGACCGTGAGGAATGACAGCTTTCAGCTCAGAAGCCGGGGCCACTCCGCACTGCCCCTCTCCGGCCCGGCCACACCACTCACCCTGCATCCAGGACACTTCTCCTTCA... |
Task1_train_28412 | A variant on Chromosome 21 in gene CBS (cystathionine beta-synthase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGAC... | AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGAC... |
Task1_train_28413 | The gene CBS (cystathionine beta-synthase), on Chromosome 21, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Homocystinuria | AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGAC... | AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGAC... |
Task1_train_28414 | The gene CBS (cystathionine beta-synthase) is located on Chromosome 21, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Classic homocystinuria | AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGAC... | AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGAC... |
Task1_train_28415 | A variant was discovered on Chromosome 21, affecting CBS (cystathionine beta-synthase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGAC... | AGTCTTTGCTCAGTGACACTCGACCCCTAAAACCCCCATTTGGCTGGATGCAGAAAGACAGGACCCTGTCCGGGGGGTGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGAC... |
Task1_train_28416 | Assess the clinical impact of this variant on gene CBS (cystathionine beta-synthase), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Classic homocystinuria | TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGC... | TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGC... |
Task1_train_28417 | This mutation is located in gene CBS (cystathionine beta-synthase) on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGC... | TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGC... |
Task1_train_28418 | The gene CBS (cystathionine beta-synthase) is located on Chromosome 21, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGC... | TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGC... |
Task1_train_28419 | A genomic change on Chromosome 21 affects CBS (cystathionine beta-synthase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Homocystinuria | TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGC... | TGCAGGCGCTGAGGGCGGGCAGAGGGAGGCTGTGAATTAACCACCTCCGTGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGC... |
Task1_train_28420 | Mutation context: Chromosome 21, Gene CBS (cystathionine beta-synthase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Classic homocystinuria | TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATT... | TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATT... |
Task1_train_28421 | A genetic alteration is present in CBS (cystathionine beta-synthase) on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Homocystinuria | TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATT... | TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATT... |
Task1_train_28422 | Located on Chromosome 21, this mutation impacts CBS (cystathionine beta-synthase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATT... | TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATT... |
Task1_train_28423 | This gene mutation involves CBS (cystathionine beta-synthase) on Chromosome 21. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cardiovascular phenotype | TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATT... | TGGGCTGTTGGATGTTTGCGTGGTGTGAGTGAGTTAACTGAATTTACACAGGAAATGGAATCAGTCTTTTAGGCTTCAGCGCAGAAACTCGCTGGGCGCTCACACTGCTGGCCGCCAGCGCGGGCATCTGGTGGAGAAGTCACAGCAGGGAAAGACTCAGCGAGACGGAGCAGCTTGGGCACCCATGCTGAGACAGGACTGTTTTTGCCAAATGAGAGAGTTCTCACACATAAAGCCCAAACAACCAAATGCCTGGACCTTACAGCCCGGCTCCTGGGCACGGACTGAGGGTGTACTCCAGCCCATGCCAACACCGGATT... |
Task1_train_28424 | Here is a genetic alteration in CBS (cystathionine beta-synthase) on Chromosome 21. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | CTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTAC... | CTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTAC... |
Task1_train_28425 | A sequence alteration has been identified in CBS (cystathionine beta-synthase) on Chromosome 21. Is it disease-inducing or harmless? | Pathogenic; Classic homocystinuria | CTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTAC... | CTCCACTCACCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTAC... |
Task1_train_28426 | Given this context: Chromosome 21, gene CBS (cystathionine beta-synthase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Classic homocystinuria | CCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCA... | CCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCA... |
Task1_train_28427 | Given this context: Chromosome 21, gene CBS (cystathionine beta-synthase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED | CCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCA... | CCTCCCCTACACCTGCACCTGGGCACTAGCCTATCAGAGCTTCTCCCCCTGCAGCCCATCCTACCGGTCCTGCAGGGCGCTGAGCAACTCTGTGGGAACCAGAGAGGCATAAGCAGCCCTCACTGGGGGGCGCCGCAGAAAACCCCGTCCCCCCACCCACGAGCTGGGCTTGTGGCGGGCAGGCGCCTGGATTTGGGTCCCCTACGCCCCTATGCCCAGCCATACCCAGCGGCCCCTGCCAAAGCAGCTTGATGTCCTGAAGCCACAGCACTGGCTTCCCCATCGGATGGGGACTCGCATACTCTCCCTACAGCCTCCCA... |
Task1_train_28428 | The following genetic variant occurs in CRYAA (crystallin alpha A) on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cataract 9 multiple types | TTTCGGGGGAAGCACCCATCACTCTCCCAGCGTTTCCTATCTGCACCTTAATTTGGCACCCCAGGGAATCGCTCCTCTGGAATTGTAACCTTGCAGGGCAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGC... | TTTCGGGGGAAGCACCCATCACTCTCCCAGCGTTTCCTATCTGCACCTTAATTTGGCACCCCAGGGAATCGCTCCTCTGGAATTGTAACCTTGCAGGGCAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGC... |
Task1_train_28429 | Located on Chromosome 21, this mutation impacts CRYAA (crystallin alpha A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Cataract 9 multiple types | TGTAACCTTGCAGGGCAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGCTGGAGATGAATTTGCAAAGCCCGGGAGTGTCCTGGGTGTGTGTTCACTCCACACGCACGAATCTGTTAGAGGCTGAGTAGGAA... | TGTAACCTTGCAGGGCAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGCTGGAGATGAATTTGCAAAGCCCGGGAGTGTCCTGGGTGTGTGTTCACTCCACACGCACGAATCTGTTAGAGGCTGAGTAGGAA... |
Task1_train_28430 | The following genetic variant occurs in CRYAA (crystallin alpha A) on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cataract 9 multiple types | CAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGCTGGAGATGAATTTGCAAAGCCCGGGAGTGTCCTGGGTGTGTGTTCACTCCACACGCACGAATCTGTTAGAGGCTGAGTAGGAACTAGGAGGCCAAAGA... | CAAAAGCTATCATTTCAAGATTTTTTGGGATCCTGTGTCCCCGGACAGTGCTGTAAATGTAGGAGGAAGGGTGCTGCTCATGGGTGCTGCTCATGATGGAGGTGCCCCGTGGAGCACGCCTCGGAGCCCCCCCTTTCATCCCTGATCCCATCTGGGATGTGTCAGGTCTGATCCGCATACACTGGGGCATCTGACATTTCATGGCCTTCTGAGCCCATGGGCTGGAGATGAATTTGCAAAGCCCGGGAGTGTCCTGGGTGTGTGTTCACTCCACACGCACGAATCTGTTAGAGGCTGAGTAGGAACTAGGAGGCCAAAGA... |
Task1_train_28431 | Assess the clinical impact of this variant on gene CRYAA (crystallin alpha A), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Cataract 9 multiple types | AACCAGTGCACTCTTGCCCAGGCCCGGTGAGACTCTGAGGACGATGTGTCTAACCTCTGTGTCTAACGGGGGTGTGTGCTCTCCCTCCTCTGGCGACCATGAGGACCACCCCGGCAGGACAAGGTGTGCAGAGAACTAGCATGGTCCCTGGCACGTAGCCCCTGCCCAGTGACTGGCAGATGAGAAGCTCCATTGTCGCCCCAGGCGAGTATGGGGCACAGGCGCCTCCTTGGGTTGTCTGCCCTCCCGGGAGCCCCAGGGTGCCCAGGCGGGCCTCAGCTGAGTCCAGGCCTCGGGGACAGTCCGTGCAGCCCCTCCTG... | AACCAGTGCACTCTTGCCCAGGCCCGGTGAGACTCTGAGGACGATGTGTCTAACCTCTGTGTCTAACGGGGGTGTGTGCTCTCCCTCCTCTGGCGACCATGAGGACCACCCCGGCAGGACAAGGTGTGCAGAGAACTAGCATGGTCCCTGGCACGTAGCCCCTGCCCAGTGACTGGCAGATGAGAAGCTCCATTGTCGCCCCAGGCGAGTATGGGGCACAGGCGCCTCCTTGGGTTGTCTGCCCTCCCGGGAGCCCCAGGGTGCCCAGGCGGGCCTCAGCTGAGTCCAGGCCTCGGGGACAGTCCGTGCAGCCCCTCCTG... |
Task1_train_28432 | The gene CRYAA (crystallin alpha A) on Chromosome 21 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Inborn genetic diseases | CCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCT... | CCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCT... |
Task1_train_28433 | This variant affects gene CRYAA (crystallin alpha A) located on Chromosome 21. Evaluate its biological effect and specify any disease association. | Pathogenic; Cataract 9 multiple types | CCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCT... | CCGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCT... |
Task1_train_28434 | A variant was discovered on Chromosome 21, affecting CRYAA (crystallin alpha A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Cataract 9 multiple types | CGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTG... | CGGCCGCTTCTATAGACAGCATGACACCAAGGGCAGTGACCTCATTCCACAGGCTGAGTCCAGCCAGCCAGCCAAGCATCACCAGCCAGACGATTGACCCTAACGGACCAACCAACCCGTAACGACCCCTCCTACCATAACCAGTAGCCAGCCAGCCCATAACCAGCCAACTTATCTATAACCAGCCACCTGACCATAGCCAAACAACCAGCCGGCCCACCAGTAGCATTCAGCCCCTCAGCTGGCCCTGAGGGTTTGGAGACAGGTCGAGGGTCATGCCTGTCTGTCCAGGAGACAGTCACAGGCCCCCGAAAGCTCTG... |
Task1_train_28435 | Gene SIK1 (salt inducible kinase 1) on Chromosome 21 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Developmental and epileptic encephalopathy, 30 | GTGCTGACAGGGACGCTTCTTAACAACAGGAGCGAGGGAAGCTGAAACCTGGAACACAAACGTATAGTACAAAATGTAACAAATAAGTAGTGTCTACCTGTCTCCCATGTAGATACATATACAGGATTTGCTTTAAAAAAAAAACAAAAACTTAAAAACACTGACCTAAACCTCTCACTTTACCTTCCTTGAACAAAACCCAAAAAGCCTAGGTGGGGGGTGGGGAGGGGGGTCCCGGCCCAGGGCAGGCACCGCCCTGAGCCATGAGCCATGAGCCATGAGCCTGTCTCCCAGCTGCCCAGCCCTACAGTCAGCCTCCA... | GTGCTGACAGGGACGCTTCTTAACAACAGGAGCGAGGGAAGCTGAAACCTGGAACACAAACGTATAGTACAAAATGTAACAAATAAGTAGTGTCTACCTGTCTCCCATGTAGATACATATACAGGATTTGCTTTAAAAAAAAAACAAAAACTTAAAAACACTGACCTAAACCTCTCACTTTACCTTCCTTGAACAAAACCCAAAAAGCCTAGGTGGGGGGTGGGGAGGGGGGTCCCGGCCCAGGGCAGGCACCGCCCTGAGCCATGAGCCATGAGCCATGAGCCTGTCTCCCAGCTGCCCAGCCCTACAGTCAGCCTCCA... |
Task1_train_28436 | This variant affects the gene SIK1 (salt inducible kinase 1) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 30 | GGAAGCTGACAGGGAGCAGAACAGCTCCTCCCAAGCCCCCCTGAGCCTGCAGCACTGGGGTGGCGGACTGCGACCCCAGGAAGGGCGAGGCCAGCCTGACCGGGGAGCAGGCGCCCAGCAGCCCCTGAGTGGCCGGGGTGCCACTGAGCCCCGCGGGGCTTTTGCTCGCAGAGAAGGTCAGACAACTGTCAGAGCTGGTTCCCTCTGCAGGACTTGCCGTGGTGGAGGGGGAGACGACTATACCTGTGGGGGGAGGACAGCGCTTTTGATGCTGCAGTGCAAAGGAATAGGCTCCCCCGGCCACTGCTGGGCACACATGG... | GGAAGCTGACAGGGAGCAGAACAGCTCCTCCCAAGCCCCCCTGAGCCTGCAGCACTGGGGTGGCGGACTGCGACCCCAGGAAGGGCGAGGCCAGCCTGACCGGGGAGCAGGCGCCCAGCAGCCCCTGAGTGGCCGGGGTGCCACTGAGCCCCGCGGGGCTTTTGCTCGCAGAGAAGGTCAGACAACTGTCAGAGCTGGTTCCCTCTGCAGGACTTGCCGTGGTGGAGGGGGAGACGACTATACCTGTGGGGGGAGGACAGCGCTTTTGATGCTGCAGTGCAAAGGAATAGGCTCCCCCGGCCACTGCTGGGCACACATGG... |
Task1_train_28437 | This mutation occurs in HSF2BP (heat shock transcription factor 2 binding protein) on Chromosome 21. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Premature ovarian failure 19 | CCTTATTGCTGATATGGAGAAAGCCCAAGTATTCTAGACAGAAGATCAAAAATCATCAAAAATCCCTTAAGCCAAAGCCTAATTCAGAGAAAAGCCCCAATGCTCTTCAATTCTGTGAAGGCTGACAGGGGTAAGGAAGCTGCAGAAGAAAAGCTGGAAGCTAGTACAGGTTGCTTCATGAGGTTTAAGGAAAGAAGTTGTCTCCATAACATAAAAACAACGTGCAGCAGCAAGTGCTGATGGAGAAGCTGCAGCAAGTTATCCAGAAGATCTAGCTAAGATCACTGCCGAGGGTGGTTACACTAAACAAGAGATTTTCA... | CCTTATTGCTGATATGGAGAAAGCCCAAGTATTCTAGACAGAAGATCAAAAATCATCAAAAATCCCTTAAGCCAAAGCCTAATTCAGAGAAAAGCCCCAATGCTCTTCAATTCTGTGAAGGCTGACAGGGGTAAGGAAGCTGCAGAAGAAAAGCTGGAAGCTAGTACAGGTTGCTTCATGAGGTTTAAGGAAAGAAGTTGTCTCCATAACATAAAAACAACGTGCAGCAGCAAGTGCTGATGGAGAAGCTGCAGCAAGTTATCCAGAAGATCTAGCTAAGATCACTGCCGAGGGTGGTTACACTAAACAAGAGATTTTCA... |
Task1_train_28438 | The variant affects gene PDXK (pyridoxal kinase), which is on Chromosome 21. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | AAACAAAACAGAACTTTGTTCCCCACAGTTCTGGAGGCTGGGAAGTCCAAGGTCAAGGCACTGGCAGGCTCAGGGTCTGGCGGGGGCTACTTTGCTACCCGGACTGCACCTTGTTGCTGCATCCTCATGTGTGGATGGCAGGGGGCTCGAGGGGCCCATGCTGCTCCCTCCAGCCCTCATCAGGCACAGAGAAAGGGGAGCCCTCATGACTTAATCATGCCCCAGAGGACCCCTTCTGAATATTGCCACATGGGTGCCATGTTTCAACATGCATTTTAGAGCAGACACTGTCAGACTGCAGCAGGAGTCCATGTGCTTTG... | AAACAAAACAGAACTTTGTTCCCCACAGTTCTGGAGGCTGGGAAGTCCAAGGTCAAGGCACTGGCAGGCTCAGGGTCTGGCGGGGGCTACTTTGCTACCCGGACTGCACCTTGTTGCTGCATCCTCATGTGTGGATGGCAGGGGGCTCGAGGGGCCCATGCTGCTCCCTCCAGCCCTCATCAGGCACAGAGAAAGGGGAGCCCTCATGACTTAATCATGCCCCAGAGGACCCCTTCTGAATATTGCCACATGGGTGCCATGTTTCAACATGCATTTTAGAGCAGACACTGTCAGACTGCAGCAGGAGTCCATGTGCTTTG... |
Task1_train_28439 | This gene mutation involves PDXK (pyridoxal kinase) on Chromosome 21. Is it associated with any clinical condition, or is it benign? | Pathogenic; PDXK-related disorder | CACAGTTCTGGAGGCTGGGAAGTCCAAGGTCAAGGCACTGGCAGGCTCAGGGTCTGGCGGGGGCTACTTTGCTACCCGGACTGCACCTTGTTGCTGCATCCTCATGTGTGGATGGCAGGGGGCTCGAGGGGCCCATGCTGCTCCCTCCAGCCCTCATCAGGCACAGAGAAAGGGGAGCCCTCATGACTTAATCATGCCCCAGAGGACCCCTTCTGAATATTGCCACATGGGTGCCATGTTTCAACATGCATTTTAGAGCAGACACTGTCAGACTGCAGCAGGAGTCCATGTGCTTTGGGCTGCGTTCCCAAGCAGCCTGG... | CACAGTTCTGGAGGCTGGGAAGTCCAAGGTCAAGGCACTGGCAGGCTCAGGGTCTGGCGGGGGCTACTTTGCTACCCGGACTGCACCTTGTTGCTGCATCCTCATGTGTGGATGGCAGGGGGCTCGAGGGGCCCATGCTGCTCCCTCCAGCCCTCATCAGGCACAGAGAAAGGGGAGCCCTCATGACTTAATCATGCCCCAGAGGACCCCTTCTGAATATTGCCACATGGGTGCCATGTTTCAACATGCATTTTAGAGCAGACACTGTCAGACTGCAGCAGGAGTCCATGTGCTTTGGGCTGCGTTCCCAAGCAGCCTGG... |
Task1_train_28440 | Gene CSTB (cystatin B), found on Chromosome 21, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Unverricht-Lundborg syndrome | TCACTGCAACCTCCTCTGCCTCCTGGGTTCAAGCTATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCTGGCTAGTTTTTTGTATTTTATTTTATTTTTTTCAGTAGGGATGGGGTTTCACCATGTTGGTCAGGCTGGTCCCGGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCTGTAATTTTGATCCCTTTGTCAACTTGTATTTAAACCAGACCACAGCATTAATTACATATTTTATTTTCTGTTTTACACTGATATTTCCTGTTTA... | TCACTGCAACCTCCTCTGCCTCCTGGGTTCAAGCTATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCTGGCTAGTTTTTTGTATTTTATTTTATTTTTTTCAGTAGGGATGGGGTTTCACCATGTTGGTCAGGCTGGTCCCGGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCTGTAATTTTGATCCCTTTGTCAACTTGTATTTAAACCAGACCACAGCATTAATTACATATTTTATTTTCTGTTTTACACTGATATTTCCTGTTTA... |
Task1_train_28441 | The following genetic variant occurs in LOC130066788, CSTB (ATAC-STARR-seq lymphoblastoid silent region 13368| cystatin B) on Chromosome 21. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Unverricht-Lundborg syndrome | GTCAGCTCATCATGCTTGGCTTTGTTGGTCTGGTAGTTAGATAAGGTCAAGGGCTTGTTTTCATGAGGGAGAGATTGGAACACTCGCAGGTGTACGAAGTCCTCGTCGCCGACGTGCACCTGGGAAGAGAGCGGAGTGAGCGAAGCCTCTGATCCCAAGTCACCTTGCTGCGCCCCTCCAGGTCATTAGCAGCCAGCTGAAGACAATCTTGTCTTCTCCTGCATGTGCAGGGGATGCCTCACATCCCACACTTGTTTCCTTGGGGTTCTTAGCTCCCCAGAAGCCCTAGTCCTCCTGAAAGGCCGATGGACACACACAGT... | GTCAGCTCATCATGCTTGGCTTTGTTGGTCTGGTAGTTAGATAAGGTCAAGGGCTTGTTTTCATGAGGGAGAGATTGGAACACTCGCAGGTGTACGAAGTCCTCGTCGCCGACGTGCACCTGGGAAGAGAGCGGAGTGAGCGAAGCCTCTGATCCCAAGTCACCTTGCTGCGCCCCTCCAGGTCATTAGCAGCCAGCTGAAGACAATCTTGTCTTCTCCTGCATGTGCAGGGGATGCCTCACATCCCACACTTGTTTCCTTGGGGTTCTTAGCTCCCCAGAAGCCCTAGTCCTCCTGAAAGGCCGATGGACACACACAGT... |
Task1_train_28442 | A variant was discovered on Chromosome 21, affecting AIRE (autoimmune regulator). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Polyglandular autoimmune syndrome, type 1 | GGATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGG... | GGATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGG... |
Task1_train_28443 | This alteration in AIRE (autoimmune regulator) on Chromosome 21 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Polyglandular autoimmune syndrome, type 1 | GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGA... | GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGA... |
Task1_train_28444 | A variant affecting Chromosome 21, within the gene AIRE (autoimmune regulator), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Polyglandular autoimmune syndrome, type 1 | GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGA... | GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGA... |
Task1_train_28445 | A variant found in Chromosome 21 affects AIRE (autoimmune regulator). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Polyglandular autoimmune syndrome, type 1 | GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGA... | GATGAGCAAGGAGAATGGGGGTGTTTCAGGAGCAGACAGGGATCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGA... |
Task1_train_28446 | Here’s a variant in AIRE (autoimmune regulator) located on Chromosome 21. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Polyglandular autoimmune syndrome, type 1 | TCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCT... | TCCTGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCT... |
Task1_train_28447 | Here is a variant affecting AIRE (autoimmune regulator) on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Polyglandular autoimmune syndrome, type 1 | TGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGAT... | TGTGCAAAGCTGGGCTTCTGTGCAACTTTCGCTTGCAGTTATTTAAATATTTTTGCTGTAAATACAGAACTGCAGGGGAGAGGGCAGGAAACCCAGCGAGCAGCAGCCCGGCCTGGCTGGGGACAGGATGTGTCTGTTGGAGCGGGGACCGGCAAGGCAGGCATGCAGGCAGGGGGCTTCCCTCTCGGGGTCTTCGGAAGGCGCAGTGCAGGGAGTGAGAGACGCCCAGGCCTGGGCAGCGAGAGGGCCCTGCTCCCCGCTCAAGGCTCCCAGGACATTCCACACAGGAGCCAGCCTGTTCCAACCCTGCACTGCCTGAT... |
Task1_train_28448 | Given this context: Chromosome 21, gene AIRE (autoimmune regulator) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Polyglandular autoimmune syndrome, type 1 | AACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCA... | AACGGCACGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCA... |
Task1_train_28449 | A variant was discovered on Chromosome 21, affecting AIRE (autoimmune regulator). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Polyglandular autoimmune syndrome, type 1 | CGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGG... | CGCCTGCCCACGTGGGAATCTTGGTGGCGTCTCTCACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGG... |
Task1_train_28450 | This sequence variant lies in AIRE (autoimmune regulator) on Chromosome 21. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Polyglandular autoimmune syndrome, type 1 | ACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGG... | ACTGCATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGG... |
Task1_train_28451 | This is a variant in AIRE (autoimmune regulator), located on Chromosome 21. Is this mutation a likely cause of disease or not? | Pathogenic; Polyglandular autoimmune syndrome, type 1 | CATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCA... | CATCAGTTAGCCCCCAGCCCAGTGCTGCCTGGATTCAGGCTTCCTGGTACCTTCGTCCACCCTTCAGCCCTAATCCATGCTGGCCAGGTCATCTCGTTCTCTGGCTCAGTGGGAACACTCGTGCCCAGAGACCTCTCGTGGTTCTCTGCAGCCTGCACACAGGGCCTGCTTCCCTGGCTTGACCGCACAGACAAGGGGACTGTTACCAAGGCCTCCCACTGAGGCCACCCCCCCTCCAGGCCATGCCTGCGGGGCCACCACAGCCTCAGCATCATTGCAGGCCCCAGGCCTCTGCACCTGGTCTTGTTTTACTGGGGGCA... |
Task1_train_28452 | A variant found in Chromosome 21 affects AIRE (autoimmune regulator). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Autoimmune polyglandular syndrome type 1, autosomal dominant | CAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCT... | CAAGGGGTCAGGGGTCAGAGCAGGGCCTGCCCTCTGAGACCCTGTCCTAGGGGCTGGGGACGTGCTGGCCTGGTGTGTCATTCCAAGGGCCTAAGCTGCACCACCAGACCCAGGAAGGGGACACCTTGGGTCTAAGCATGATCTTGCCAGTCGCCCCTGCCCCCACTGCACCCTGGTTCTGGGACCCCCTTCTCAGGCACCTTCTCTGCCCGTCCACTCCCTATCCTTCAGGACCAGCCTAGACATAGCTTCCTCCAGAAAATCATCCCTGGCCCCCAGCTGCATGCAGGCTGAACCCTTCCTGTCCCCTTCTCCTTCCT... |
Task1_train_28453 | Given this context: Chromosome 21, gene CFAP410 (cilia and flagella associated protein 410) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Axial spondylometaphyseal dysplasia | AAGGAAGAGAGAAACAGGTTCATAGGCCCAGGGAACCACACAGGCATGCTCTGGGGGCCTCCGTTGTGTCACACCGTCTGGGATCAGGACTCAGTTCTGAGTAGACCCCCTCGGCCTGCCCTGCCTGATGAGGTGTTAGAACCTGTTCAGCTGCCACTCAGCTGCTGCACCCAGGTGGTCGCCTGTGGCTGATGCCCGGGACAGTGGCTGCCTCCCTCCTGGGCGACGTGGTGTGGCGAGCGCCTGCGTCAGGCCCACTTCTGGCTGCGTGGAGTTGGCGTTTCTGGCATTTCGGGCAGAGTGACGCGACCTCCTGGGCC... | AAGGAAGAGAGAAACAGGTTCATAGGCCCAGGGAACCACACAGGCATGCTCTGGGGGCCTCCGTTGTGTCACACCGTCTGGGATCAGGACTCAGTTCTGAGTAGACCCCCTCGGCCTGCCCTGCCTGATGAGGTGTTAGAACCTGTTCAGCTGCCACTCAGCTGCTGCACCCAGGTGGTCGCCTGTGGCTGATGCCCGGGACAGTGGCTGCCTCCCTCCTGGGCGACGTGGTGTGGCGAGCGCCTGCGTCAGGCCCACTTCTGGCTGCGTGGAGTTGGCGTTTCTGGCATTTCGGGCAGAGTGACGCGACCTCCTGGGCC... |
Task1_train_28454 | This variant affects gene CFAP410 (cilia and flagella associated protein 410) located on Chromosome 21. Evaluate its biological effect and specify any disease association. | Pathogenic; Axial spondylometaphyseal dysplasia | ATGGTGGGGACGGGGTAGGGGGAACCGTGGGGCTGAAGGCAGGCAGCTGCCCCCACAGGTCCCACCCAAGGTGTGCATGATGTGGGGCAGGAGGGCGCTGGTGTAAGCCCCGCATGTCCACGGCAGCCCATGTCGGGGGAAGTGGAAGGGACTCAATTTAAAACGACCTCAACCATTCCAACAAAGCGCTTTACTGAGGGCACCCACTCCACAGTCCCAAGGAGGCAGACACAGGCCTGAACTGTCCACCCTCTATGTCCCGAGTGGTGACTCCACTCCCCACTGCTCAGAGATCACACCCCTTCTGGAGAGCTTGCATC... | ATGGTGGGGACGGGGTAGGGGGAACCGTGGGGCTGAAGGCAGGCAGCTGCCCCCACAGGTCCCACCCAAGGTGTGCATGATGTGGGGCAGGAGGGCGCTGGTGTAAGCCCCGCATGTCCACGGCAGCCCATGTCGGGGGAAGTGGAAGGGACTCAATTTAAAACGACCTCAACCATTCCAACAAAGCGCTTTACTGAGGGCACCCACTCCACAGTCCCAAGGAGGCAGACACAGGCCTGAACTGTCCACCCTCTATGTCCCGAGTGGTGACTCCACTCCCCACTGCTCAGAGATCACACCCCTTCTGGAGAGCTTGCATC... |
Task1_train_28455 | This mutation is located in gene CFAP410 (cilia and flagella associated protein 410) on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Retinal dystrophy | AATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAG... | AATCCCACCTGGCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAG... |
Task1_train_28456 | A variant on Chromosome 21 in gene CFAP410 (cilia and flagella associated protein 410) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Retinal dystrophy with or without macular staphyloma | GCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGC... | GCACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGC... |
Task1_train_28457 | Gene CFAP410 (cilia and flagella associated protein 410) on Chromosome 21 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Axial spondylometaphyseal dysplasia | CACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCT... | CACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCT... |
Task1_train_28458 | This sequence variant lies in CFAP410 (cilia and flagella associated protein 410) on Chromosome 21. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Retinal dystrophy with or without macular staphyloma | CACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCT... | CACACGGGGGCAAGAGAAGGGAGGCAACTCCTGGGAGGTCAGGGGCTACAGATGGCAGCTCCTGGAGAGCCCGGCACTTACTTCACCTGTGGGGCGCCCTCCCGGCACCCTGGGGCTCCCCAGCTGTAACACCTTCCACCCAGGGCTTCAGGGGCAGGGTGGGGGGCACCCGAACACACAAATGCCGGGGGAGAGCTCCTGACCATGGGGTCAGGCCCTGTGCCGGATGGCAGATGCCTAACAGAGATCACATCCCGATGCCCCCACCACAGGCACCAGCAGCGGGTGTGATCTGCCAAGCAGGAGAGAAGTGCCCAGCT... |
Task1_train_28459 | The gene TSPEAR (thrombospondin type laminin G domain and EAR repeats), on Chromosome 21, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not specified | ATCTCGGAAATGACACCTGACTTGGGACTCGCTGTGAGCCGGTGGCACCTGCGAGAGAAGGTGAGCCCCCGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCTTGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCTCGGGGAAGTAAGGCGCTGGGAGGAAGCTGGCCTCAGTGAGCCCTCGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGGTGCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAG... | ATCTCGGAAATGACACCTGACTTGGGACTCGCTGTGAGCCGGTGGCACCTGCGAGAGAAGGTGAGCCCCCGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCTTGGGGGGAAGCAAGGCTCTGGGAGGAGGCCGGCCTCGGTGAGCCCTCGGGGAAGTAAGGCGCTGGGAGGAAGCTGGCCTCAGTGAGCCCTCGGGGAAGCAAGGCTCTGGGAGGAAGCTGGCCTCGGTGAGCCCACAGTGGGGAAGCAAGGTGCTGGGAGGAAGCCGGCCTCGGTGAGCCCTCGGGGGGAAGCAAGGCTCTGGGAG... |
Task1_train_28460 | An alteration has been detected in TSPEAR (thrombospondin type laminin G domain and EAR repeats) on Chromosome 21. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | CACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCCCACAAGGGCAGGCTTCACGTTTCACTTGCAGCCTGTGGCTCTGGGTGGTGACCCTGCTGCCTACTCCCAGC... | CACCCCCAATCCCAGTGCACTGAGCCTCACTCTGCCCCCGTGGCAGGAGGCTCATCCCGCCTCTTCCTGGCTCCCAGGCACGCTCACCTGTTCCATCCACAGCACTAGCGAGCTCAAGGTGTGTTCCTTCTGGCACTGCTGCCTCCTCACCTGGGCGCCTGCGGCTCATCTGGGCGGCCACAGCAGCCTCCCAATGGCTCACTCCCTCCCAGCCACCGACCAGTCATTATCGTGCAGCCCTGTCAACCCCACAAGGGCAGGCTTCACGTTTCACTTGCAGCCTGTGGCTCTGGGTGGTGACCCTGCTGCCTACTCCCAGC... |
Task1_train_28461 | Here is a variant affecting ITGB2 (integrin subunit beta 2) on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Leukocyte adhesion deficiency 1 | GACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCT... | GACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCT... |
Task1_train_28462 | Gene ITGB2 (integrin subunit beta 2) on Chromosome 21 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; ITGB2-related disorder | GACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCT... | GACCAGAGCTCAGCAGGTGAGGCCGGTGCCAGGATGAGCAACGCAAGGTCCTGGTTCCCACGGCAGCTGTGCCCACCTCCTGAGCATGGGGACTGTGGGCCATAGTGGGCCAGGCCCACAGCTGCTGACCCTGGGACAGACACTAGCGTTCAGTGCAGTCCCTGGCCTGGTCTGGCATCCTCACTCCCTGTACCCCTCCTGCCATCCTGACCTGCACCCTCACTCCCTGTGGTTGCTCCTGCCATCCTGATCTGCACCCTCACTCCCTGTGCCCCCTCCTGCCATCCTGACCTGCACTCTCACTCCCCGTGCCCCCTCCT... |
Task1_train_28463 | The gene ITGB2 (integrin subunit beta 2) is located on Chromosome 21, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Leukocyte adhesion deficiency 1 | GTCTGCCCCCAGGGGGCGCAGCCATCACTCCATCCCTCAGTCTGCAGTGGCCTGACCCAGGGATTTGGGCTCCAGGTTGATGAGTAGGACTCTTGGGGGCCAAGGCGTGTGTGAAGAACCCTCCCAGCACCCTCTCACTGAGAAGCACCCTCTCGGCACCCTCTCACTGACGTTCCTGACATCAGCTTCACAAGGAAAGCGTCTGGCCTCGGCAGAGAGGATGTGAAGGAAAGAAACAGGGTCCTTCCAGTGGATGCTGCCTGCTCCCAGACAGCCTCTGATGCCTGTGTGCCCCTCCCTGCCCCCGTCAGAGTGCTGGG... | GTCTGCCCCCAGGGGGCGCAGCCATCACTCCATCCCTCAGTCTGCAGTGGCCTGACCCAGGGATTTGGGCTCCAGGTTGATGAGTAGGACTCTTGGGGGCCAAGGCGTGTGTGAAGAACCCTCCCAGCACCCTCTCACTGAGAAGCACCCTCTCGGCACCCTCTCACTGACGTTCCTGACATCAGCTTCACAAGGAAAGCGTCTGGCCTCGGCAGAGAGGATGTGAAGGAAAGAAACAGGGTCCTTCCAGTGGATGCTGCCTGCTCCCAGACAGCCTCTGATGCCTGTGTGCCCCTCCCTGCCCCCGTCAGAGTGCTGGG... |
Task1_train_28464 | This variant impacts the gene ITGB2 (integrin subunit beta 2) on Chromosome 21. Is the change likely to result in a pathogenic outcome? | Pathogenic; Leukocyte adhesion deficiency 1 | CTCCCGGCGGAGGACCTGAGTCTTGTATCTCTAAAGTCCTTTGCGGCCCCCAGAGCCTACAACGTCAGGCTGCAAGAGCGTCGCACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAG... | CTCCCGGCGGAGGACCTGAGTCTTGTATCTCTAAAGTCCTTTGCGGCCCCCAGAGCCTACAACGTCAGGCTGCAAGAGCGTCGCACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAG... |
Task1_train_28465 | Gene ITGB2 (integrin subunit beta 2), found on Chromosome 21, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Leukocyte adhesion deficiency 1 | TCTAAAGTCCTTTGCGGCCCCCAGAGCCTACAACGTCAGGCTGCAAGAGCGTCGCACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGT... | TCTAAAGTCCTTTGCGGCCCCCAGAGCCTACAACGTCAGGCTGCAAGAGCGTCGCACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGT... |
Task1_train_28466 | Assess the clinical impact of this variant on gene ITGB2 (integrin subunit beta 2), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Leukocyte adhesion deficiency 1 | CACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCC... | CACTACGGCCAGCGAGGACAAGCCCCTTGTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCC... |
Task1_train_28467 | Gene ITGB2 (integrin subunit beta 2) on Chromosome 21 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Leukocyte adhesion deficiency 1 | GTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCCAGAGGCGGGGACGGCAGGGTGCAGCCGT... | GTGACCAGTGGTTGCCTCTCGGCCCACGGCTGATCCCAGCCAGAAGTCCTGGCCCCTCTGAGCCATTGAGATGCCTCCGCAGAGAGGCTCATCCTAACCCGTGCATCCTGGGCTCCTTCTCGCCTCTGTCCCTCCCTGCATGTTCCTCATGGTCCCCGCAGCCGCTCACCCAGCTCAGGCAATGGGGGCAGGGAGGGGCCACACTGGAGGAGGCGGACTCAGGGGCAGCAGGGAACGTACAGTGGAGGCCGGGAGGGGGAGGAGGCGGATGCTTGGGGATGGGACCCTGGCCAGAGGCGGGGACGGCAGGGTGCAGCCGT... |
Task1_train_28468 | The variant affects gene ITGB2 (integrin subunit beta 2), which is on Chromosome 21. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Leukocyte adhesion deficiency 1 | GCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGT... | GCCCAGGCTGGAGTCCCTCAGACGACCTGCCGGCCAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGT... |
Task1_train_28469 | Gene ITGB2 (integrin subunit beta 2), found on Chromosome 21, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Leukocyte adhesion deficiency 1 | CAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAG... | CAGGGTACCCCCCTGCCCCCACACAGCGCCTGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAG... |
Task1_train_28470 | This sequence variant lies in ITGB2 (integrin subunit beta 2) on Chromosome 21. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Leukocyte adhesion deficiency 1 | TGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGG... | TGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGG... |
Task1_train_28471 | Mutation context: Chromosome 21, Gene ITGB2 (integrin subunit beta 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Leukocyte adhesion deficiency 1 | TGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGG... | TGACAGAGCCCCCCACACTGGGGGAACGTGGGGACCCAAGCAGGGGCAGCGGCCTCACCGGGCAGGCGGCGACCTGCATCATGGCGTCCAGCCCACCCTCGGGTGCATCCAGGTTTCCGGAAATCAGCTGCTTCCCGACCTCGGTCTGAAACTGGTTGGAGTTGTTGGTCAGCTTCAGCACGTGCCTGAAGGCAAACGGGGGCTGGCACTCTTTCTCCTTGTTGGGGCATGGGTTTCGCAGCTTATCAGGGTGCGTGTTCACGAACGGCAGCACGGTCTTGTCCACGAAGGACCCGAAGCCTGCAGGGCACATGGAGGGG... |
Task1_train_28472 | This variant affects the gene ITGB2 (integrin subunit beta 2) found on Chromosome 21. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Leukocyte adhesion deficiency 1 | TGCTGGAGCCCAGACTCTCAGGGAAAGGAACCCGAGCCGTCAGAAAACCATCTGATTCCAGGCTGGGGCAAGGGACATGGAGATGGGCCTGCAGCATCATGTTGCTCCAGAAAGCAAGAAAGTGCTCAGAACGGTAGAACGGGGATGCATGGACAGGACACGCAGCCAGACCCAGCGGATTTGAGCAACTCGGGGAAGAAAGGACAGCCACAGATCATGCACTACTGAACAAAATAAAACTGTGGGTCACGCTGATGAGAGAGAGGCTGCAGAGAAGGAGAGACCCTTCCTTAGGTTGGCAGCCGTGAGTGGCAGGCGGG... | TGCTGGAGCCCAGACTCTCAGGGAAAGGAACCCGAGCCGTCAGAAAACCATCTGATTCCAGGCTGGGGCAAGGGACATGGAGATGGGCCTGCAGCATCATGTTGCTCCAGAAAGCAAGAAAGTGCTCAGAACGGTAGAACGGGGATGCATGGACAGGACACGCAGCCAGACCCAGCGGATTTGAGCAACTCGGGGAAGAAAGGACAGCCACAGATCATGCACTACTGAACAAAATAAAACTGTGGGTCACGCTGATGAGAGAGAGGCTGCAGAGAAGGAGAGACCCTTCCTTAGGTTGGCAGCCGTGAGTGGCAGGCGGG... |
Task1_train_28473 | With a mutation on Chromosome 21 in gene ADARB1 (adenosine deaminase RNA specific B1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | CCAAGGGCGAGGACTTGGTCCCTTTAAACATTCCCATGGATGAAGCTGATGAATATTTTCACAACTTTTCAGTTTGCTTAACGTAATGAGAATCTACCATTTTACACATGTAGTAGAAATAGACCCTAAAGCCACCATATGGGGCACTCGTAAATTGGTTTACAATTTTAGTAATATTTTGGTTACTTTAAAAAATACAGATTTTTGAAATCTAGTGGTAGATGTCTTTAACTTTCATTCACATTACAACCTTGCAGGGCACTGTAGCCCTCACCCTTGGGCTCCATGTGACAGCTGCCTAGCCATGATGGAAAGGAATT... | CCAAGGGCGAGGACTTGGTCCCTTTAAACATTCCCATGGATGAAGCTGATGAATATTTTCACAACTTTTCAGTTTGCTTAACGTAATGAGAATCTACCATTTTACACATGTAGTAGAAATAGACCCTAAAGCCACCATATGGGGCACTCGTAAATTGGTTTACAATTTTAGTAATATTTTGGTTACTTTAAAAAATACAGATTTTTGAAATCTAGTGGTAGATGTCTTTAACTTTCATTCACATTACAACCTTGCAGGGCACTGTAGCCCTCACCCTTGGGCTCCATGTGACAGCTGCCTAGCCATGATGGAAAGGAATT... |
Task1_train_28474 | This mutation is located in gene ADARB1 (adenosine deaminase RNA specific B1) on Chromosome 21. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | AAGTCTGTGTTTAAGACCATGTGATTTTGTTGTATGCTGTATAAATAGAAGTTCCCAAACTGCCAGGTAAAGATGGTAATTTTTATTCTAGTCACCGTTTCTAGAAAGAGCTAGTCATGTATCCAAACTCCTTTTCTTTACAAAGCCATTTTTTGTATGTGGTCTTTCTGTTCTGAAGTCATAAATTGGAAGAAGGAAAGGTTACTCACATCCTGATGACATATCCATTATTGAGTGACAAGAACTGTATTAATTACCCTAAACATGTAAAATAAATATTCCAGTTCAAACTTATCTTTCCCTTGTGGAAAATACTAGCC... | AAGTCTGTGTTTAAGACCATGTGATTTTGTTGTATGCTGTATAAATAGAAGTTCCCAAACTGCCAGGTAAAGATGGTAATTTTTATTCTAGTCACCGTTTCTAGAAAGAGCTAGTCATGTATCCAAACTCCTTTTCTTTACAAAGCCATTTTTTGTATGTGGTCTTTCTGTTCTGAAGTCATAAATTGGAAGAAGGAAAGGTTACTCACATCCTGATGACATATCCATTATTGAGTGACAAGAACTGTATTAATTACCCTAAACATGTAAAATAAATATTCCAGTTCAAACTTATCTTTCCCTTGTGGAAAATACTAGCC... |
Task1_train_28475 | Here is a variant affecting ADARB1 (adenosine deaminase RNA specific B1) on Chromosome 21. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | AGCCCGAATGTTTCTCATCTGCCCTGGCCTCCCTGTCCCCACACTGCCCAGTCGACCTTCATTTCTGACCTGTACTGCTGAGCGTCTTCCCCTGCAGCGTGTGCTGAGCATCTTCCCCTGCAGTGCGTGCCACACTGTGCTGAGCGTCTAACCCTGCAGCGCGTGCCACACTGTGCTGAGCATCTTCCCCTGCAGCCTGTGCCACACTGTGCTGAGCGTCTTCCCCTGCAGCCTGTGCCACACTGTGCTGAGCGTCTTCCCCTGAAGCGCATGCCACACTGTGCTGAGCGTCTAACCCTGCAGCGCGTGCCACACTGTGC... | AGCCCGAATGTTTCTCATCTGCCCTGGCCTCCCTGTCCCCACACTGCCCAGTCGACCTTCATTTCTGACCTGTACTGCTGAGCGTCTTCCCCTGCAGCGTGTGCTGAGCATCTTCCCCTGCAGTGCGTGCCACACTGTGCTGAGCGTCTAACCCTGCAGCGCGTGCCACACTGTGCTGAGCATCTTCCCCTGCAGCCTGTGCCACACTGTGCTGAGCGTCTTCCCCTGCAGCCTGTGCCACACTGTGCTGAGCGTCTTCCCCTGAAGCGCATGCCACACTGTGCTGAGCGTCTAACCCTGCAGCGCGTGCCACACTGTGC... |
Task1_train_28476 | A mutation found in ADARB1 (adenosine deaminase RNA specific B1) on Chromosome 21 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | GTGTGCTGCTTCTGGCCAGTGGGCTTGACAGTTCAGTGTCTGGGTTCAGAATATGAGTCTGCCCATGTTCTAAGCATGTTCTAAAGATTCATATCCCAAATTAGTTTTGATTTTGGTGGCCTATAACATCCATGTGATATGAATTATCAAGCTCAATATATAAATGCAGATACATGTATTCAATTCCGAGTTATGCAAGTGTCTTTTTAAAAACTTTCAACCCTGCAGAATTAGCCTGTGATTAGTTAAGATGAGATCGTTTAAACACAGCAAGAAAATAAGTACAAGGGTACTTCAAAAAGTTCATAAAGTTAAAAGAT... | GTGTGCTGCTTCTGGCCAGTGGGCTTGACAGTTCAGTGTCTGGGTTCAGAATATGAGTCTGCCCATGTTCTAAGCATGTTCTAAAGATTCATATCCCAAATTAGTTTTGATTTTGGTGGCCTATAACATCCATGTGATATGAATTATCAAGCTCAATATATAAATGCAGATACATGTATTCAATTCCGAGTTATGCAAGTGTCTTTTTAAAAACTTTCAACCCTGCAGAATTAGCCTGTGATTAGTTAAGATGAGATCGTTTAAACACAGCAAGAAAATAAGTACAAGGGTACTTCAAAAAGTTCATAAAGTTAAAAGAT... |
Task1_train_28477 | A genetic alteration is present in ADARB1 (adenosine deaminase RNA specific B1) on Chromosome 21. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Neurodevelopmental disorder with hypotonia, microcephaly, and seizures | AGCAGAAGTCATGTAGCTCTGATAGGAGCGCTTTTCAAACAGATGTCTTAATCTTCTTAGTGCCTCAAACTAGATCCTATTCAGACATGTTTCAGCAAGTTAGTACAAGTTTATTTTGGTGCCAAAAAATTTTGAAATCCATGAGGTTTTTTCATAATAAGCATTTTCCATGAACTTTTTCAAGACTCTTGTTAAGAATTAGGGTTTCCTATTGCATCATGGATGTCACACATGCAAAGCCACGTGACCTGAACATGCCTGGCCTCTCAGTGGCAGGGGAGCACATGCAGGCATGAGCGCCAGAGGTGGTGTGATACAGG... | AGCAGAAGTCATGTAGCTCTGATAGGAGCGCTTTTCAAACAGATGTCTTAATCTTCTTAGTGCCTCAAACTAGATCCTATTCAGACATGTTTCAGCAAGTTAGTACAAGTTTATTTTGGTGCCAAAAAATTTTGAAATCCATGAGGTTTTTTCATAATAAGCATTTTCCATGAACTTTTTCAAGACTCTTGTTAAGAATTAGGGTTTCCTATTGCATCATGGATGTCACACATGCAAAGCCACGTGACCTGAACATGCCTGGCCTCTCAGTGGCAGGGGAGCACATGCAGGCATGAGCGCCAGAGGTGGTGTGATACAGG... |
Task1_train_28478 | Given this context: Chromosome 21, gene COL6A1 (collagen type VI alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Bethlem myopathy 1A | TCTCACTTGTCCGGTCCCGTGCCGGGGACGCCCTGCCCTTCGGGGGAGGTTGTGAAGGTTTCTGACTCCCCTCGAGGCACAGGAGCGGTTTGGGGTCTCTCACTCCACCCCCTCCCCACCGTCCCCACCGAGGGACGTCCTGCTGCCTTTTCCCGGGAGAGCCTCTCCGGGCCCGGGGCTCTGTGCTGCAGGCGCTGGGCTGGCCGGGAGGGCAGGCCCAGCAGAGACTCGGGGAATGGGGCGAGAGCTTGAAGGCCCCTCTCCTCCATCTTCGGCCAGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAG... | TCTCACTTGTCCGGTCCCGTGCCGGGGACGCCCTGCCCTTCGGGGGAGGTTGTGAAGGTTTCTGACTCCCCTCGAGGCACAGGAGCGGTTTGGGGTCTCTCACTCCACCCCCTCCCCACCGTCCCCACCGAGGGACGTCCTGCTGCCTTTTCCCGGGAGAGCCTCTCCGGGCCCGGGGCTCTGTGCTGCAGGCGCTGGGCTGGCCGGGAGGGCAGGCCCAGCAGAGACTCGGGGAATGGGGCGAGAGCTTGAAGGCCCCTCTCCTCCATCTTCGGCCAGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAG... |
Task1_train_28479 | This gene mutation involves COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Is it associated with any clinical condition, or is it benign? | Pathogenic; Bethlem myopathy 1A | ATCAGCCAGACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTG... | ATCAGCCAGACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTG... |
Task1_train_28480 | A variant was discovered in gene COL6A1 (collagen type VI alpha 1 chain), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bethlem myopathy 1A | GACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTG... | GACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTG... |
Task1_train_28481 | This mutation occurs in COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Bethlem myopathy 1A | ACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGC... | ACCATCGACACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGC... |
Task1_train_28482 | A sequence alteration has been identified in COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Is it disease-inducing or harmless? | Pathogenic; Bethlem myopathy 1A | CACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACA... | CACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACA... |
Task1_train_28483 | Assess the clinical impact of this variant on gene COL6A1 (collagen type VI alpha 1 chain), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Bethlem myopathy 1A | CACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACA... | CACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACA... |
Task1_train_28484 | This variant impacts the gene COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Is the change likely to result in a pathogenic outcome? | Pathogenic; Collagen 6-related myopathy | ACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACAT... | ACCATCGTGGACATGATCGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACAT... |
Task1_train_28485 | Given this variant in gene COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Bethlem myopathy 1A | CGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTC... | CGTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTC... |
Task1_train_28486 | An alteration has been detected in COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Bethlem myopathy 1A | GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCC... | GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCC... |
Task1_train_28487 | The gene COL6A1 (collagen type VI alpha 1 chain), on Chromosome 21, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Ullrich congenital muscular dystrophy 1A | GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCC... | GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCC... |
Task1_train_28488 | Located on Chromosome 21, this mutation impacts COL6A1 (collagen type VI alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Bethlem myopathy 1A | GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCC... | GTGAGGCCCCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCC... |
Task1_train_28489 | This variant lies on Chromosome 21 and affects the gene COL6A1 (collagen type VI alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Collagen 6-related myopathy | CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGT... | CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGT... |
Task1_train_28490 | This sequence change occurs on Chromosome 21, altering COL6A1 (collagen type VI alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Ullrich congenital muscular dystrophy 1A | CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGT... | CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGT... |
Task1_train_28491 | Given a variant located on Chromosome 21 and affecting COL6A1 (collagen type VI alpha 1 chain), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Bethlem myopathy 1A | CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGT... | CCTGCCCAGGAGACGGGGAGGCCCGCGGCGGCCGCAGGTGGAAAGTAATTCTGCGTTTCCATTTCTCTTTCCAGAAAAATAACGTGGAGCAAGTGGTAAGAGCCCTCCCCACCACCCCCAGCCGTGAGTCTGCACACGTCCACCCACACGTCCACCTGTGTGTTCAGGACGCATGTCCCTATGCATATCCGCCCATGTGCCCGGGACACATGTCCCCTGCGTGTCTGCCCGTGTGCCCGGGATGTGTGTCCCCCTGCGTGTCCACCTGTGTGTCTGCCCATGTGCCTGGGACATGTGTCCGCCTGTGCGTCCATCCGTGT... |
Task1_train_28492 | With a mutation on Chromosome 21 in gene COL6A1 (collagen type VI alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ullrich congenital muscular dystrophy 1A | TGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAC... | TGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAC... |
Task1_train_28493 | Given this context: Chromosome 21, gene COL6A1 (collagen type VI alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Bethlem myopathy 1A | TGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAC... | TGGGAACCTGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGAC... |
Task1_train_28494 | Assess the clinical impact of this variant on gene COL6A1 (collagen type VI alpha 1 chain), found on Chromosome 21. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Bethlem myopathy 1A | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... |
Task1_train_28495 | This genomic variant is located on Chromosome 21, within the COL6A1 (collagen type VI alpha 1 chain) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ullrich congenital muscular dystrophy 1A | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... |
Task1_train_28496 | This variant impacts the gene COL6A1 (collagen type VI alpha 1 chain) on Chromosome 21. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... |
Task1_train_28497 | Mutation context: Chromosome 21, Gene COL6A1 (collagen type VI alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Abnormality of the musculature | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... |
Task1_train_28498 | A variant was discovered in gene COL6A1 (collagen type VI alpha 1 chain), Chromosome 21. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Bethlem myopathy 1A | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... |
Task1_train_28499 | A genomic change on Chromosome 21 affects COL6A1 (collagen type VI alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Bethlem myopathy 1A | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... | TGAGTCTGGGGTCCTGGCTGACCGTCCCCTCTGCCTTGCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGTGAGTGGTGACTCCTGCTCCTCCCATGTGTTGTGGGGCCTGGGAGTGGGGGTGGCAGGACCAAAGCCTCCTGGGCACCCAAGTCCACCATGAGGATCCAGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGATGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGT... |
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