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_15900 | This sequence variant lies in BEST1 (bestrophin 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGAC... | GAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGAC... |
Task1_train_15901 | Located on Chromosome 11, this mutation impacts BEST1 (bestrophin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Vitelliform macular dystrophy 2 | CTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACA... | CTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACA... |
Task1_train_15902 | A variant affecting Chromosome 11, within the gene BEST1 (bestrophin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACA... | CTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACA... |
Task1_train_15903 | A genetic alteration is present in BEST1 (bestrophin 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTAT... | AAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTAT... |
Task1_train_15904 | The gene BEST1 (bestrophin 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | TAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAA... | TAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAA... |
Task1_train_15905 | Consider this mutation in BEST1 (bestrophin 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACA... | AAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACA... |
Task1_train_15906 | The gene BEST1 (bestrophin 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinal dystrophy | TAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCA... | TAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCA... |
Task1_train_15907 | The gene BEST1 (bestrophin 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | AATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATA... | AATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATA... |
Task1_train_15908 | The gene BEST1 (bestrophin 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | ATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATT... | ATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATT... |
Task1_train_15909 | Here is a genetic alteration in BEST1 (bestrophin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTC... | GGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTC... |
Task1_train_15910 | Gene BEST1 (bestrophin 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | GCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAG... | GCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAG... |
Task1_train_15911 | Gene BEST1 (bestrophin 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | ACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTC... | ACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTC... |
Task1_train_15912 | A variant affecting Chromosome 11, within the gene BEST1 (bestrophin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Retinal dystrophy | TCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTG... | TCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTG... |
Task1_train_15913 | This mutation occurs in BEST1 (bestrophin 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive bestrophinopathy | TCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTG... | TCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTG... |
Task1_train_15914 | A variant was discovered in gene BEST1 (bestrophin 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGG... | GGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGG... |
Task1_train_15915 | Here is a variant affecting BEST1 (bestrophin 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | GACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCC... | GACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCC... |
Task1_train_15916 | This sequence variant lies in BEST1 (bestrophin 1) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | GTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCC... | GTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCC... |
Task1_train_15917 | A variant was discovered in gene BEST1 (bestrophin 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCC... | GAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCC... |
Task1_train_15918 | A variant found in Chromosome 11 affects BEST1 (bestrophin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | GAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCC... | GAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCC... |
Task1_train_15919 | This variant affects gene BEST1 (bestrophin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | ACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCC... | ACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCC... |
Task1_train_15920 | A variant found in Chromosome 11 affects BEST1 (bestrophin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | GTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTC... | GTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTC... |
Task1_train_15921 | An alteration has been detected in BEST1 (bestrophin 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal dominant vitreoretinochoroidopathy | AGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTAC... | AGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTAC... |
Task1_train_15922 | A variant was discovered on Chromosome 11, affecting BEST1 (bestrophin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | AATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTG... | AATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTG... |
Task1_train_15923 | This is a variant in BEST1 (bestrophin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Retinal dystrophy | TGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGAC... | TGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGAC... |
Task1_train_15924 | The gene BEST1 (bestrophin 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinal dystrophy | TTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGG... | TTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGG... |
Task1_train_15925 | The gene BEST1 (bestrophin 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGA... | GGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGA... |
Task1_train_15926 | Chromosome 11 houses a mutation in gene BEST1 (bestrophin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinal dystrophy | CGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGA... | CGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGA... |
Task1_train_15927 | A variant on Chromosome 11 in gene BEST1 (bestrophin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Vitelliform macular dystrophy 2 | TCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGC... | TCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGC... |
Task1_train_15928 | Mutation context: Chromosome 11, Gene BEST1 (bestrophin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive bestrophinopathy | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... |
Task1_train_15929 | The gene BEST1 (bestrophin 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinal dystrophy | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... |
Task1_train_15930 | A variant has been detected on Chromosome 11 in BEST1 (bestrophin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive bestrophinopathy | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... |
Task1_train_15931 | A variant was discovered on Chromosome 11, affecting BEST1 (bestrophin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinitis pigmentosa 50 | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... |
Task1_train_15932 | A mutation in BEST1 (bestrophin 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Vitelliform macular dystrophy 2 | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... |
Task1_train_15933 | A change on Chromosome 11 affects gene BEST1 (bestrophin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Autosomal dominant vitreoretinochoroidopathy | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... | CAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCA... |
Task1_train_15934 | An alteration has been detected in BEST1 (bestrophin 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | AATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGT... | AATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGT... |
Task1_train_15935 | Located on Chromosome 11, this mutation impacts BEST1 (bestrophin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinal dystrophy | AAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCA... | AAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCA... |
Task1_train_15936 | Here is a genetic alteration in BEST1 (bestrophin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Vitelliform macular dystrophy 2 | GGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGA... | GGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGA... |
Task1_train_15937 | Consider this mutation in BEST1 (bestrophin 1) on Chromosome 11. Is this a benign change or a disease-causing variant? | Pathogenic; Retinal dystrophy | ACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGA... | ACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGA... |
Task1_train_15938 | With a mutation on Chromosome 11 in gene BEST1 (bestrophin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | ACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACC... | ACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACC... |
Task1_train_15939 | Assess the clinical impact of this variant on gene BEST1 (bestrophin 1), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | GTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCC... | GTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCC... |
Task1_train_15940 | Here’s a variant in BEST1 (bestrophin 1) located on Chromosome 11. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Retinal dystrophy | TGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCT... | TGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCT... |
Task1_train_15941 | This alteration in BEST1 (bestrophin 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | AGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGG... | AGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGG... |
Task1_train_15942 | This variant affects the gene BEST1 (bestrophin 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | AGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGG... | AGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGG... |
Task1_train_15943 | The variant affects gene BEST1 (bestrophin 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinal dystrophy | GGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGC... | GGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGC... |
Task1_train_15944 | A variant was discovered in gene BEST1 (bestrophin 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Vitelliform macular dystrophy 2 | GACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCC... | GACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCC... |
Task1_train_15945 | This is a variant in BEST1 (bestrophin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | ACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCA... | ACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCA... |
Task1_train_15946 | A mutation on Chromosome 11 affecting BEST1 (bestrophin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | CTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAA... | CTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAA... |
Task1_train_15947 | This is a variant in BEST1 (bestrophin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; Retinal dystrophy | GGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACAT... | GGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACAT... |
Task1_train_15948 | A genetic alteration is present in BEST1 (bestrophin 1) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Retinal dystrophy | TGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGT... | TGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGT... |
Task1_train_15949 | A mutation on Chromosome 11 affecting BEST1 (bestrophin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinal dystrophy | GTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGA... | GTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGA... |
Task1_train_15950 | This alteration in BEST1 (bestrophin 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Retinal dystrophy | GAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAA... | GAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAA... |
Task1_train_15951 | The gene BEST1 (bestrophin 1) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinal dystrophy | AGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAC... | AGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAC... |
Task1_train_15952 | The gene BEST1 (bestrophin 1) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACC... | GGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACC... |
Task1_train_15953 | This variant impacts the gene BEST1 (bestrophin 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinal dystrophy | GCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCC... | GCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCC... |
Task1_train_15954 | A variant found in Chromosome 11 affects BEST1 (bestrophin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Vitelliform macular dystrophy 2 | CTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCC... | CTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCC... |
Task1_train_15955 | The variant affects gene BEST1 (bestrophin 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinal dystrophy | CTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCC... | CTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCC... |
Task1_train_15956 | Consider a variant on Chromosome 11 in gene BEST1 (bestrophin 1). Determine its clinical classification and disease relevance. | Pathogenic; Retinal dystrophy | TGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCA... | TGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCA... |
Task1_train_15957 | This alteration occurs within gene BEST1 (bestrophin 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; Vitelliform macular dystrophy 2 | CCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT... | CCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT... |
Task1_train_15958 | This variant affects gene BEST1 (bestrophin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | CTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTC... | CTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTC... |
Task1_train_15959 | A mutation on Chromosome 11 affecting BEST1 (bestrophin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Vitelliform macular dystrophy 2 | TTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCT... | TTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCT... |
Task1_train_15960 | Here is a mutation in BEST1 (bestrophin 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinal dystrophy | GGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTG... | GGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTG... |
Task1_train_15961 | The variant affects gene BEST1 (bestrophin 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | AAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAA... | AAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAA... |
Task1_train_15962 | A change on Chromosome 11 affects gene BEST1 (bestrophin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | AACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAA... | AACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAA... |
Task1_train_15963 | This variant impacts the gene BEST1 (bestrophin 1) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinal dystrophy | CTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATA... | CTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATA... |
Task1_train_15964 | Consider a variant on Chromosome 11 in gene BEST1 (bestrophin 1). Determine its clinical classification and disease relevance. | Pathogenic; Retinal dystrophy | GCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAA... | GCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAA... |
Task1_train_15965 | Located on Chromosome 11, this mutation impacts BEST1 (bestrophin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinal dystrophy | GAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAG... | GAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAG... |
Task1_train_15966 | A sequence alteration has been identified in BEST1, FTH1 (bestrophin 1| ferritin heavy chain 1) on Chromosome 11. Is it disease-inducing or harmless? | Pathogenic; Vitelliform macular dystrophy 2 | GGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTG... | GGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTG... |
Task1_train_15967 | The gene BEST1, FTH1 (bestrophin 1| ferritin heavy chain 1) on Chromosome 11 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinal dystrophy | GGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTG... | GGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTG... |
Task1_train_15968 | A genomic change on Chromosome 11 affects BEST1 (bestrophin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Retinal dystrophy | ACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTG... | ACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTG... |
Task1_train_15969 | This mutation occurs in BEST1 (bestrophin 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | CAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTG... | CAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTGAAAATACAGAATTAGCTGTGTG... |
Task1_train_15970 | A mutation in BEST1 (bestrophin 1), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive bestrophinopathy | CACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTG... | CACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTG... |
Task1_train_15971 | A variant was discovered in gene BEST1 (bestrophin 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinal dystrophy | GTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCT... | GTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACACAGCAAGACTCTGTCTCAAACAAACAAACAAACAAACAAACAAAGGGGTTAACAGAGCCCCTAAGTCACATAAGTGTGCAAGTCAGAACAAGGCCTTGGTCTCCTGTCTCAGACTCCCAGCCCCTGGAGCATCCTGATTTCAGGGTTCCCACCTAGCCCTTTGCTACCACATCCTCCTCCTCCTCCCAGGTGGTGACTGTGGCGGTGTACAGCT... |
Task1_train_15972 | Given this variant in gene BEST1 (bestrophin 1) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive bestrophinopathy | TTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAG... | TTCTCCTGCTTCAGCCTCCCCAGTAGCTGGGATTACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAG... |
Task1_train_15973 | This variant affects gene BEST1 (bestrophin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | TACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCC... | TACAGGTGCCCACAACCACAACTGGCTAATTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCAGTAATCTGCCCGCTTTGGCCTCCCAAAATGCTGGAATTATAGGTGTCAAAACTATGTTTTCTGATAAGCTACGATGCTTGGATGGGAAGTGGAAGTGGGGTTCCCTGGGATGGGGGAGGGGCAGCAAAGTCCCAGCAGGCAGCCAGGCCATCACAGGTACCTCCTGAATTGACTTTGTCCTACCGAGTAAAGGGCTCAGGCCACCCACAGCAGCCAGACTTATCC... |
Task1_train_15974 | Consider a variant on Chromosome 11 in gene B3GAT3 (beta-1,3-glucuronyltransferase 3). Determine its clinical classification and disease relevance. | Pathogenic; Larsen-like syndrome, B3GAT3 type | ATGCTGGCTGTCACCTTCCTACTGCAGGTGAGTCAGCAAAGCATCTGACACCTCCTCCCACCCGGGACTCCTCCCTGCCTCCAACCCTGGGCCTCTTGGAACCGCTGACTCTCCCTGACTCTTTCCCCTTGCTTCCCCCACAGGCTCTGGTGCTCCTTGGCCTGCGGTACCTGCAAACAGCACTGGAGGGGCTTGGAGGGGTCATTGATGCGGGAGGAGAGACCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCA... | ATGCTGGCTGTCACCTTCCTACTGCAGGTGAGTCAGCAAAGCATCTGACACCTCCTCCCACCCGGGACTCCTCCCTGCCTCCAACCCTGGGCCTCTTGGAACCGCTGACTCTCCCTGACTCTTTCCCCTTGCTTCCCCCACAGGCTCTGGTGCTCCTTGGCCTGCGGTACCTGCAAACAGCACTGGAGGGGCTTGGAGGGGTCATTGATGCGGGAGGAGAGACCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCA... |
Task1_train_15975 | A change on Chromosome 11 affects gene B3GAT3 (beta-1,3-glucuronyltransferase 3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | GAGACCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCACCAGGAGAAGCACCTCCCAAGGAGGATCTATCTGAGGCCTAGAGGCCTGGAGCTTGGGGTGAGGAAGAGGGAGGGATGGACAAGTCTGAAAACCTCACAACTCCTTACCAAGGCTCCAGGTTGGGGGGATCGTAGGATTAGAGGGGCTAAGGATAGTCAGCGAGCTGGACTGGGGTAAGAAAGAAAACCAGATGTCCTAGGGCCTAGCCCTTGTAGTC... | GAGACCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCACCAGGAGAAGCACCTCCCAAGGAGGATCTATCTGAGGCCTAGAGGCCTGGAGCTTGGGGTGAGGAAGAGGGAGGGATGGACAAGTCTGAAAACCTCACAACTCCTTACCAAGGCTCCAGGTTGGGGGGATCGTAGGATTAGAGGGGCTAAGGATAGTCAGCGAGCTGGACTGGGGTAAGAAAGAAAACCAGATGTCCTAGGGCCTAGCCCTTGTAGTC... |
Task1_train_15976 | This genomic variant is located on Chromosome 11, within the B3GAT3 (beta-1,3-glucuronyltransferase 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS | CCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCACCAGGAGAAGCACCTCCCAAGGAGGATCTATCTGAGGCCTAGAGGCCTGGAGCTTGGGGTGAGGAAGAGGGAGGGATGGACAAGTCTGAAAACCTCACAACTCCTTACCAAGGCTCCAGGTTGGGGGGATCGTAGGATTAGAGGGGCTAAGGATAGTCAGCGAGCTGGACTGGGGTAAGAAAGAAAACCAGATGTCCTAGGGCCTAGCCCTTGTAGTCAGAA... | CCCAGGGCTATCTCTTTCCCAGTGGGCTGAAAGATATGCTGAAAACAGCATGGCTACAGGGAGGGGTTGCCTGCAGGCCAGCACCTGAGGAGGCCCCACCAGGAGAAGCACCTCCCAAGGAGGATCTATCTGAGGCCTAGAGGCCTGGAGCTTGGGGTGAGGAAGAGGGAGGGATGGACAAGTCTGAAAACCTCACAACTCCTTACCAAGGCTCCAGGTTGGGGGGATCGTAGGATTAGAGGGGCTAAGGATAGTCAGCGAGCTGGACTGGGGTAAGAAAGAAAACCAGATGTCCTAGGGCCTAGCCCTTGTAGTCAGAA... |
Task1_train_15977 | A mutation on Chromosome 11 affecting B3GAT3 (beta-1,3-glucuronyltransferase 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Larsen-like syndrome, B3GAT3 type | GAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCC... | GAAAGTGACATGAGAAGGCCTGGAGGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCC... |
Task1_train_15978 | Chromosome 11 houses a mutation in gene B3GAT3 (beta-1,3-glucuronyltransferase 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Larsen-like syndrome, B3GAT3 type | GGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAG... | GGCTGATTCTGATATAGACTCAATAAAGTTTTTGGATGGAAGCAATTGCTTTTTCTTGTCAAGGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAG... |
Task1_train_15979 | This is a variant in B3GAT3 (beta-1,3-glucuronyltransferase 3), located on Chromosome 11. Is this mutation a likely cause of disease or not? | Pathogenic; MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS | GGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTC... | GGGGATGGGGGCCTGGGAGAACTGATTTCTGTCTGATGGAGCAGCTAGGACTCCAAAGTTTGGACCCTGGCTCGACCTGTGCAGCAACAGGAGCCCACATCTGTAAGGATCAGAAAGCAAGAACCCAATGTAAGAAGCAAAGGAAAACAAGAGGCCCCTCCAGGTTGAGATTCTTTATTCTGGAGGTAGGAAGGGGGTCAGCATGCTCAGGTGGGAAGGGTCCAGCCCAGCTCCTCCAGCCCCCCAGTGCATGCCCAGCCCCAATAAGTTACCCAGTTACTCAGCTGCCCTCCCTCCTGGGTCCATCTGTCCTTCTGTTC... |
Task1_train_15980 | A variant was discovered on Chromosome 11, affecting B3GAT3 (beta-1,3-glucuronyltransferase 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Larsen-like syndrome, B3GAT3 type | GACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCC... | GACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATATAAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCACGCCATTGCACCCAGCCTAGATGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATACAAAAGTAAAATACAAAAAATTACTGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGAGAGGCCGAAGCAGGTGGAACACGAAGTCAGGAGTTCC... |
Task1_train_15981 | This mutation occurs in GANAB (glucosidase II alpha subunit) on Chromosome 11. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Polycystic kidney disease 3 with or without polycystic liver disease | ACACTGTACTCCAGCCTGGCGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGACCCAGGGCGCAGTGGCTCACTCCTTTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAGTCCCAGCGACTCGGGAGGTTGAGGCACGAGAACTGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCCAGATCATGCCATTGCATTCCAGCCTGGGCA... | ACACTGTACTCCAGCCTGGCGACACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGACCCAGGGCGCAGTGGCTCACTCCTTTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTGTAGTCCCAGCGACTCGGGAGGTTGAGGCACGAGAACTGCTTGAACCTGGGAGGCAGAGGTTGCAATGAGCCCAGATCATGCCATTGCATTCCAGCCTGGGCA... |
Task1_train_15982 | The following genetic variant occurs in GANAB (glucosidase II alpha subunit) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Autosomal dominant polycystic liver disease | ACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCACTTGAACCCGGGAGGCGGAGTGCATTCAGTGAGCCAAGATCACACCATCGCACTCCAGCCTGGGGGACGAGAGTGAGACTTTGTCTCAAAAAAAAAAAGAAAAGAAAAGAACAGCACAGGGGTTAAGACCCAGGAGTTTGCAGTCAGACAGTCGGGTTGGGGTTCAGGTCTCAGTTATACAATCCAGTCTTAGACATTTAACTTCCTAAGCCATCTCCCTGCTTCTTCTCTGCCCTCTACTGAAACCATGCTGCACAGCAGCCTGCCAGTAGCCTCC... | ACCTGTGATCCCAGCTACTCAGGAGGCTGAGGCTGGAGAATCACTTGAACCCGGGAGGCGGAGTGCATTCAGTGAGCCAAGATCACACCATCGCACTCCAGCCTGGGGGACGAGAGTGAGACTTTGTCTCAAAAAAAAAAAGAAAAGAAAAGAACAGCACAGGGGTTAAGACCCAGGAGTTTGCAGTCAGACAGTCGGGTTGGGGTTCAGGTCTCAGTTATACAATCCAGTCTTAGACATTTAACTTCCTAAGCCATCTCCCTGCTTCTTCTCTGCCCTCTACTGAAACCATGCTGCACAGCAGCCTGCCAGTAGCCTCC... |
Task1_train_15983 | This alteration occurs within gene GANAB (glucosidase II alpha subunit) located on Chromosome 11. Is it associated with a disease or is it a benign variant? | Pathogenic; POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE | TGGGTTTTTGAAGAAGCCACCCACATCCGCTGGTAGAGGAGAGAGAGGAAGCAGGTTGGAAAAGAGGGTGAAGGAGAGATACTGCTTGAGAAACTTCCCAAGGCCCTAACTTGGACTCTCAACTCTCTTTGCTTACAACACCTTGGTCCTGTGCCCTCTACTTTGCCCCTTTCCCACCAAACCAAGACCCCAAATTCCTCCCTGTCTTACCCCCACAGAAGGAAAGTCCCACCAGCCCCAAGCTGAGACACATAGGAATAGAGATCTTCAAATGGTCCCACTCGGCAGTGTTGTCCCCTGTCCACACGGCTCCTGAGGAA... | TGGGTTTTTGAAGAAGCCACCCACATCCGCTGGTAGAGGAGAGAGAGGAAGCAGGTTGGAAAAGAGGGTGAAGGAGAGATACTGCTTGAGAAACTTCCCAAGGCCCTAACTTGGACTCTCAACTCTCTTTGCTTACAACACCTTGGTCCTGTGCCCTCTACTTTGCCCCTTTCCCACCAAACCAAGACCCCAAATTCCTCCCTGTCTTACCCCCACAGAAGGAAAGTCCCACCAGCCCCAAGCTGAGACACATAGGAATAGAGATCTTCAAATGGTCCCACTCGGCAGTGTTGTCCCCTGTCCACACGGCTCCTGAGGAA... |
Task1_train_15984 | This sequence change occurs on Chromosome 11, altering LBHD1, UQCC3 (LBH domain containing 1| ubiquinol-cytochrome c reductase complex assembly factor 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Mitochondrial complex III deficiency nuclear type 9 | ACTGGATTCCACCACAATAGACGGCAGATGGGACTTTTGAGAGAAATCCTGAATAGGGACAGCAGGGAGGTTGGGCCAAACTGGAGGGTAAGCCAGCTGCCAGACACAGGCTGAGGAAGTACTAACCTGAATGTGCTGGTGACCTTCAACCTTGCCAATTTTTCCTCTGTCCCAGAGAGGGTTGGGCAGCCTGGGACTTTCTGGATGCTGGGAGGAGCCTGGGCTATTTCTAGTCCAAAGCCCATCCTCCTTGCTTCTCCCTGGCACAAGGGCCATGGTGGTGATTCTTAGAGTGCAAGATGATTGAACTCAGAGGAGAG... | ACTGGATTCCACCACAATAGACGGCAGATGGGACTTTTGAGAGAAATCCTGAATAGGGACAGCAGGGAGGTTGGGCCAAACTGGAGGGTAAGCCAGCTGCCAGACACAGGCTGAGGAAGTACTAACCTGAATGTGCTGGTGACCTTCAACCTTGCCAATTTTTCCTCTGTCCCAGAGAGGGTTGGGCAGCCTGGGACTTTCTGGATGCTGGGAGGAGCCTGGGCTATTTCTAGTCCAAAGCCCATCCTCCTTGCTTCTCCCTGGCACAAGGGCCATGGTGGTGATTCTTAGAGTGCAAGATGATTGAACTCAGAGGAGAG... |
Task1_train_15985 | Gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Charcot-Marie-Tooth disease type 2 | AGCCTGGCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGAC... | AGCCTGGCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGAC... |
Task1_train_15986 | The gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) on Chromosome 11 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Inborn genetic diseases | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... |
Task1_train_15987 | A variant affecting Chromosome 11, within the gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neuronopathy, distal hereditary motor, type 5A | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... |
Task1_train_15988 | This genomic variant is located on Chromosome 11, within the BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Charcot-Marie-Tooth disease type 2 | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... |
Task1_train_15989 | A variant was discovered in gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not specified | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... |
Task1_train_15990 | This sequence variant lies in BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) on Chromosome 11. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hereditary spastic paraplegia 17 | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... |
Task1_train_15991 | Gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Neuronopathy, distal hereditary motor, type 5C | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... |
Task1_train_15992 | A variant has been detected on Chromosome 11 in BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hereditary spastic paraplegia 17 | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... |
Task1_train_15993 | Given this context: Chromosome 11, gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Neuronopathy, distal hereditary motor, type 5C | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... |
Task1_train_15994 | A mutation on Chromosome 11 affecting BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Peripheral neuropathy | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... |
Task1_train_15995 | This variant impacts the gene BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) on Chromosome 11. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary spastic paraplegia | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... | GCCAACATGATCAAACCCCGTCTCTATTAAAAATACAAAAATCAGCTAGGTATGGTGGCATACGCCTGTAACCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGATTGAACCCAGGGGGCAGAGGTTGCAGCGAGCCAAGATCGTGCCATTGCACTGTAGCCTGGGCGACAGGAAAGAAACTCCGTCTCAAATAAATAAATAAATAAATAAAACTTCAGGCTGGGTGTGGTTGCTCACGCATGTAATCCCAGCACTTTTGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTTTAGACCAGCATGACCAACAT... |
Task1_train_15996 | Here is a mutation in ATL3 (atlastin GTPase 3) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Neuropathy, hereditary sensory, type 1F | CCATCCTCCTGCCAGTGCGTGCCACCACGCTTGGCTAACTTTTTAAGTTTTTGTTTTGCAGAGCTAGAGTCTCCCTATATTGCCCAAGCTGATGTTGAACTCCCAGGCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCTCCATTGCTCCAACTTTAAGAAATAGATGTGAGTCAAAAAAAAAAAAAAAAGAAGAAGGAAAGGTTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGCACTTTGGGAGGCCGAGGCTGGCGGATCATAAGGTCAGGAG... | CCATCCTCCTGCCAGTGCGTGCCACCACGCTTGGCTAACTTTTTAAGTTTTTGTTTTGCAGAGCTAGAGTCTCCCTATATTGCCCAAGCTGATGTTGAACTCCCAGGCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCTCCATTGCTCCAACTTTAAGAAATAGATGTGAGTCAAAAAAAAAAAAAAAAGAAGAAGGAAAGGTTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGCACTTTGGGAGGCCGAGGCTGGCGGATCATAAGGTCAGGAG... |
Task1_train_15997 | This alteration in ATL3 (atlastin GTPase 3) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Neuropathy, hereditary sensory, type 1F | ACCTCAGCCTCCCAAGTAGCCGGGACTACAAGCACATGCCACTACTCCTGGCTTATTTTTTAATTTTTTTATATAGACAAGGTCTTGCTCTGTTGCCCAGGCTGGTCTTGAACTCTAGGCCTCAAGCAATCCTGTGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCAGATTTATCTATTCTGTAATGTCTTAGAAGTTTTACAAACACTGGAGGGACATGTTTAAGCCAAATATGAGGTCAATATATCCTATCTGCTATTTTTGTTCCCACAGGTTAGTAGGAACAGAAGGAAGACA... | ACCTCAGCCTCCCAAGTAGCCGGGACTACAAGCACATGCCACTACTCCTGGCTTATTTTTTAATTTTTTTATATAGACAAGGTCTTGCTCTGTTGCCCAGGCTGGTCTTGAACTCTAGGCCTCAAGCAATCCTGTGGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCAGATTTATCTATTCTGTAATGTCTTAGAAGTTTTACAAACACTGGAGGGACATGTTTAAGCCAAATATGAGGTCAATATATCCTATCTGCTATTTTTGTTCCCACAGGTTAGTAGGAACAGAAGGAAGACA... |
Task1_train_15998 | Given this context: Chromosome 11, gene PLCB3 (phospholipase C beta 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Spondylometaphyseal dysplasia with corneal dystrophy | GCCAGCTTGTTGCGCTCAACTTCCAGACCCTCGGTGAGCCCTGGCCCCCTCCATCTTGACCCCGACCCTCAGTCTTACTGACTTCTGACCCACGATCCTGCTGGTCTTGCCTGAATGGACCTCTGACCCTGTCTCATCCCAGATCCCAGGGGAACCCAGCTCCCGACTCACCCCGCCTCCTGCCCTTGGCTGATACCAGACCCCTCCCCTGTCTGATCTGTCCTGGATCCGGACCCTGATGCCATTTGAGCCCGCCCCTGACCCTGGACCTTGGATGCCATCTGACCTGATGATCTCCCATTCCCCACATGGCACCGTCC... | GCCAGCTTGTTGCGCTCAACTTCCAGACCCTCGGTGAGCCCTGGCCCCCTCCATCTTGACCCCGACCCTCAGTCTTACTGACTTCTGACCCACGATCCTGCTGGTCTTGCCTGAATGGACCTCTGACCCTGTCTCATCCCAGATCCCAGGGGAACCCAGCTCCCGACTCACCCCGCCTCCTGCCCTTGGCTGATACCAGACCCCTCCCCTGTCTGATCTGTCCTGGATCCGGACCCTGATGCCATTTGAGCCCGCCCCTGACCCTGGACCTTGGATGCCATCTGACCTGATGATCTCCCATTCCCCACATGGCACCGTCC... |
Task1_train_15999 | This variant affects the gene KCNK4, KCNK4-TEX40 (potassium two pore domain channel subfamily K member 4| KCNK4-CATSPERZ readthrough (NMD candidate)) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | ATGGTCAGACAGATCACTGTAGGATTCAGTGGAAAGGAAGTTTCCCTCTTTCTGTTAAGCACCAATTGTGCTAGACCTTGAGCTAGGGGCTGGGGACAAGGATGGAGATGTCAGGGGCCTGAGGGATGACCTGGTGATTGAAATACACCAGGCGAGAGGGGTAGAGAGTAGAGACGAGGGGCAAGAGATGCCCATGTGGAGAGACAGCATGGGCAAAGGCGTGGAAGCTGGAAAGTTCCGGAGCATTTTGCAGAACCTGGAGTTAGCAGATGCCTAGTCATTTGAAGCAAAAATTAGAACACACAGGATGACAAAGGATT... | ATGGTCAGACAGATCACTGTAGGATTCAGTGGAAAGGAAGTTTCCCTCTTTCTGTTAAGCACCAATTGTGCTAGACCTTGAGCTAGGGGCTGGGGACAAGGATGGAGATGTCAGGGGCCTGAGGGATGACCTGGTGATTGAAATACACCAGGCGAGAGGGGTAGAGAGTAGAGACGAGGGGCAAGAGATGCCCATGTGGAGAGACAGCATGGGCAAAGGCGTGGAAGCTGGAAAGTTCCGGAGCATTTTGCAGAACCTGGAGTTAGCAGATGCCTAGTCATTTGAAGCAAAAATTAGAACACACAGGATGACAAAGGATT... |
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