ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_27400 | Here is a mutation in FKRP (fukutin related protein) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... | GGTGGGGACAAGGAGACAGCGCCATCTGGTGCTTGAGGGTGTGGCCAATGAATGTGGAGGGGAGTGTCCTAAGGTTGGCAGCCTCTTTTGATGCAAGCTACCCCAGTTTTTTGTTGTTGTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTG... |
Task1_train_27401 | A variant affecting Chromosome 19, within the gene FKRP (fukutin related protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | GTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTT... | GTTGGGTATTTTGAGACAGGGTCTCACTCTTGTCCAGGCTGAGTGCAGTGGCATGATCATGGCTCACTGGCTCAAGCCATCCCCCCACCTCAGCATCCTGAGTGGCTGGGACCATAGGTGAGTAGCACCACACCCAGCTAATTTTTTATTTTTTGTAGAGATGAAGTCTCCTTATGTTACTCAGGTTGGTCTCGAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGCCTCCCAAATTGCTGGGATCACAGGTGTGAGTCACTGTACCTGGCCCACCCCACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTT... |
Task1_train_27402 | This mutation occurs in FKRP (fukutin related protein) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Walker-Warburg congenital muscular dystrophy | CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCA... | CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCA... |
Task1_train_27403 | Here’s a variant in FKRP (fukutin related protein) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Muscular dystrophy-dystroglycanopathy type B5 | CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCA... | CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCA... |
Task1_train_27404 | A mutation in FKRP (fukutin related protein), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2I | CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCA... | CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCA... |
Task1_train_27405 | A change on Chromosome 19 affects gene FKRP (fukutin related protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCA... | CACTTTTGTTTTTTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCA... |
Task1_train_27406 | Gene FKRP (fukutin related protein), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | TTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCT... | TTCTTTTTTTTTTTTAATTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTTGAGACAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAACGGTGCCATCTCGGCTCACTGTAACCTCCACCTCCCAGGTTCAAGTGATCCTCTTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCT... |
Task1_train_27407 | Chromosome 19 houses a mutation in gene FKRP (fukutin related protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Walker-Warburg congenital muscular dystrophy | TTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGG... | TTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGG... |
Task1_train_27408 | A genetic alteration is present in FKRP (fukutin related protein) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Walker-Warburg congenital muscular dystrophy | TTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGG... | TTGCCTTGGCCTCCCAAATTGCTGAGATCACAGGCGTGAGTCACCATACCTGGCCCACCCCACTTTTGTTTTGTTTTTCTTGTTTTAAATTGGTTTGTTTATTTATTTATTTATTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGG... |
Task1_train_27409 | The gene FKRP (fukutin related protein) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | TTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCA... | TTTATTTTTCGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAATGGTGCCATCTCCGCTCACTGCAACCTCCATCTCTCAGGTTCAAGCGATTTCCTGCCTCAGCCTCCTGAGTAGCTGGGCTTACAGGCACCCGCCCTCACACCCAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCA... |
Task1_train_27410 | A mutation found in FKRP (fukutin related protein) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Walker-Warburg congenital muscular dystrophy | CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAA... | CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAA... |
Task1_train_27411 | A change on Chromosome 19 affects gene FKRP (fukutin related protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAA... | CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAA... |
Task1_train_27412 | A variant affecting Chromosome 19, within the gene FKRP (fukutin related protein), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2I | CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAA... | CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAA... |
Task1_train_27413 | Located on Chromosome 19, this mutation impacts FKRP (fukutin related protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Muscular dystrophy-dystroglycanopathy type B5 | CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAA... | CAGCTAACTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAA... |
Task1_train_27414 | Assess the clinical impact of this variant on gene FKRP (fukutin related protein), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | GGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCC... | GGGTTTCACCGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTTGTCCTCTCAAAGTGATGGGATTACAGGCATAAGCCACCGCGCCCAGCCTAACCTTTTTTTTTCATTTATATTTTTCAGCACCCCACTTAAAATTTTTTTTAAATTCTGATTAAGTATATATAACATTAAATGTACCATCTTAACCATTTTTCAGCACACAGTTCAGTAGTGTTAAATGCATTCATACTGTTGTGCCAACAAACCTCTGGGACCTTTTCATCTTCCCAAACTGAAACTCTGTACTTATCAAACAACTCC... |
Task1_train_27415 | This alteration in AP2S1 (adaptor related protein complex 2 subunit sigma 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Familial hypocalciuric hypercalcemia 3 | GCACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGG... | GCACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGG... |
Task1_train_27416 | A variant was discovered on Chromosome 19, affecting AP2S1 (adaptor related protein complex 2 subunit sigma 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Familial hypocalciuric hypercalcemia 3 | GCACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGG... | GCACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGG... |
Task1_train_27417 | The gene AP2S1 (adaptor related protein complex 2 subunit sigma 1) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Familial hypocalciuric hypercalcemia 3 | CACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGGA... | CACCCACGACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGATTTCATCATGTTGGTCAGGCTGGTCTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGCCACCGCGCCCGGCCGGCAAAAACAACTTTTCTACGGCTCCCATCTGACTCATAGTAAGAGCCCAAGTCTTCCCTGCAGCCCTGCACCAAGAGATTACCCTGTTATCTTCTCTCTTTCATCTCCTCCCCTTCCTGGCTGCATTCCTGCTATCCCTGGAACGCCCTAAGTATTCTCCTGCCCCAGGGA... |
Task1_train_27418 | A change on Chromosome 19 affects gene DHX34 (DExH-box helicase 34). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Neurodevelopmental disorder | CTGGAGGGGTGGACCGAGTCAGTGGACATGCAGCATCCTCGGGAAGAGCTCGCCCTCCGGACTGGGGATGCTGAGCTGGCTGCATGGGCATGGTGTTGGAGGCAGCCTACGGTTGTGGTTGGCCGGCACATCTGGAGCCAGACACCTCAGCCACAGATCCCAGCTCTGCCATTTCTGACAGCGTGGCCCCGGGTGTGTTACTGCTTGTCTCTGGGCCTCAGCTTCCCCTCGATAAAAAGAGAGGATAAAAATAGCACTTGCCAGCCGGGCGTGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGGCGAGGTGGGTG... | CTGGAGGGGTGGACCGAGTCAGTGGACATGCAGCATCCTCGGGAAGAGCTCGCCCTCCGGACTGGGGATGCTGAGCTGGCTGCATGGGCATGGTGTTGGAGGCAGCCTACGGTTGTGGTTGGCCGGCACATCTGGAGCCAGACACCTCAGCCACAGATCCCAGCTCTGCCATTTCTGACAGCGTGGCCCCGGGTGTGTTACTGCTTGTCTCTGGGCCTCAGCTTCCCCTCGATAAAAAGAGAGGATAAAAATAGCACTTGCCAGCCGGGCGTGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGGCGAGGTGGGTG... |
Task1_train_27419 | Here is a variant affecting BICRA (BRD4 interacting chromatin remodeling complex associated protein) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Coffin-Siris syndrome 12 | ATTGTTTGTGGGGCTTTCCACACATATGCCTGCAGATATTTTTCCATGCGTGTCCTGGGTTGCAGTCCAGGATAGCATGAAAAGCACTTAAAAAGCATTGAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACCAAAAATACAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATCCCGGCTGCTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACTCGTGGGCGGAGATT... | ATTGTTTGTGGGGCTTTCCACACATATGCCTGCAGATATTTTTCCATGCGTGTCCTGGGTTGCAGTCCAGGATAGCATGAAAAGCACTTAAAAAGCATTGAGGCTGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACCAAAAATACAAAATTAGCCGGGCATGGTGGCACACGCCTGTAATCCCGGCTGCTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACTCGTGGGCGGAGATT... |
Task1_train_27420 | The gene CRX (cone-rod homeobox) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Leber congenital amaurosis 7 | GAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGT... | GAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGT... |
Task1_train_27421 | This mutation is located in gene CRX (cone-rod homeobox) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Cone-rod dystrophy 2 | GAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGT... | GAGTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGT... |
Task1_train_27422 | A change on Chromosome 19 affects gene CRX (cone-rod homeobox). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cone-rod dystrophy 2 | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... |
Task1_train_27423 | Here’s a variant in CRX (cone-rod homeobox) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Cone-rod dystrophy 2 | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... |
Task1_train_27424 | This sequence change occurs on Chromosome 19, altering CRX (cone-rod homeobox). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Leber congenital amaurosis 7 | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... |
Task1_train_27425 | A genomic change on Chromosome 19 affects CRX (cone-rod homeobox). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Retinal dystrophy | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... |
Task1_train_27426 | The gene CRX (cone-rod homeobox) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cone-rod dystrophy | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... |
Task1_train_27427 | A variant was discovered in gene CRX (cone-rod homeobox), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinitis pigmentosa | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... | GTCTCAAGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGC... |
Task1_train_27428 | A genetic alteration is present in CRX (cone-rod homeobox) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Leber congenital amaurosis 7 | AGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACC... | AGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACC... |
Task1_train_27429 | This gene mutation involves CRX (cone-rod homeobox) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cone-rod dystrophy 2 | AGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACC... | AGAAAGCTCTGAGAACCTTAAGCAGAGGCCATTTTACATGTGAGGACACAGAGGTACAGAGAGGTGAGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACC... |
Task1_train_27430 | A change on Chromosome 19 affects gene CRX (cone-rod homeobox). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Retinal dystrophy | AGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGT... | AGATAAATGGCCAAGGTCACATACCTAAGAGGAGAAGGAGGCAGGATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGT... |
Task1_train_27431 | A variant has been detected on Chromosome 19 in CRX (cone-rod homeobox). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Leber congenital amaurosis 7 | ATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGG... | ATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGG... |
Task1_train_27432 | This alteration in CRX (cone-rod homeobox) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cone-rod dystrophy 2 | ATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGG... | ATTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGG... |
Task1_train_27433 | Given a variant located on Chromosome 19 and affecting CRX (cone-rod homeobox), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Leber congenital amaurosis 7 | TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGC... | TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGC... |
Task1_train_27434 | A variant affecting Chromosome 19, within the gene CRX (cone-rod homeobox), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cone-rod dystrophy 2 | TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGC... | TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGC... |
Task1_train_27435 | The variant affects gene CRX (cone-rod homeobox), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinal dystrophy | TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGC... | TTTGAATCGCAGCCTGCACGTCACCCCATGGTGAGTAACTGGTAAGTGAGTGAGCATCCCTCCTCTTCTCTTGCAGGCCCCCTGACTTGGGCCTCAGTGTCCCCGAAGATCATGATGGCGTATATGAACCCGGGGCCCCACTATTCTGTCAACGCCTTGGCCCTAAGTGGCCCCAGTGTGGATCTGATGCACCAGGCTGTGCCCTACCCAAGTGAGTACAGTCGTTTCTCTTGGCACCCCAGGCTGGCCTCATCTCTTGGAGGACCTCTGGGGTCCCTTTGCCCCCAGGAAGAAGGCAATCACAGGGGCGACTTCAGGGC... |
Task1_train_27436 | Located on Chromosome 19, this mutation impacts LIG1 (DNA ligase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Immunodeficiency 96 | TGATCTCCTCCCAATAAACCCCGCACTGTGCCACACTGGCCTAGATGGGCCTCAGGCCTTTGCACCCCTGACCACAGACCCTGGCAGAGTGCAAGTGTGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGGAGGGGAAATCAGCTGAGTCCCCTCATGTGGCCTCAGCTTTCTCTTCTGACCCCACCTGCACTGGTAGAAGGTTCTGGAAGCTCTGGAGGAG... | TGATCTCCTCCCAATAAACCCCGCACTGTGCCACACTGGCCTAGATGGGCCTCAGGCCTTTGCACCCCTGACCACAGACCCTGGCAGAGTGCAAGTGTGTGGCAGACGCCCACCTTGGGGATGCGGCTGATGATGTCCGGGTACTTCCCAGTGTTGTCTTCCTGATTCCTGCTGAAGATCTTCACCTCCCCGCCTTCCAGGGCGTGGATCTGTCACGATGGGAGAAGGGAGGGGAAATCAGCTGAGTCCCCTCATGTGGCCTCAGCTTTCTCTTCTGACCCCACCTGCACTGGTAGAAGGTTCTGGAAGCTCTGGAGGAG... |
Task1_train_27437 | The gene ODAD1 (outer dynein arm docking complex subunit 1) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Primary ciliary dyskinesia | CTGGATGGATAGATATGGGACAGATGAAGGAATAGACCCTGGATAGATAGATGGATATGGGACAGATGGAGGTATAGAACCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGGATGAATGATGGATACAGGACAGTTGGAGGAATAGACCCTGGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGGATGAATGGATGGATGGATATAGGACAGATGGAGGGGTAGGTCCTGGATGGGTAGATAGATATAGAACAGATGAAGGAACAGACCCTGGATAGATAGATGGATATGGGACAGAA... | CTGGATGGATAGATATGGGACAGATGAAGGAATAGACCCTGGATAGATAGATGGATATGGGACAGATGGAGGTATAGAACCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGGATGAATGATGGATACAGGACAGTTGGAGGAATAGACCCTGGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGGATGAATGGATGGATGGATATAGGACAGATGGAGGGGTAGGTCCTGGATGGGTAGATAGATATAGAACAGATGAAGGAACAGACCCTGGATAGATAGATGGATATGGGACAGAA... |
Task1_train_27438 | The variant affects gene ODAD1 (outer dynein arm docking complex subunit 1), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Primary ciliary dyskinesia 20 | CTGGATGGATAGATATGGGACAGATGAAGGAATAGACCCTGGATAGATAGATGGATATGGGACAGATGGAGGTATAGAACCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGGATGAATGATGGATACAGGACAGTTGGAGGAATAGACCCTGGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGGATGAATGGATGGATGGATATAGGACAGATGGAGGGGTAGGTCCTGGATGGGTAGATAGATATAGAACAGATGAAGGAACAGACCCTGGATAGATAGATGGATATGGGACAGAA... | CTGGATGGATAGATATGGGACAGATGAAGGAATAGACCCTGGATAGATAGATGGATATGGGACAGATGGAGGTATAGAACCTGGATGGAGAGATAGATATAGGACAGATGAAGGAATAGATCCTGGATGAATGATGGATACAGGACAGTTGGAGGAATAGACCCTGGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGGATGAATGGATGGATGGATATAGGACAGATGGAGGGGTAGGTCCTGGATGGGTAGATAGATATAGAACAGATGAAGGAACAGACCCTGGATAGATAGATGGATATGGGACAGAA... |
Task1_train_27439 | This mutation is located in gene GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Developmental and epileptic encephalopathy, 46 | CAGGACGTGGGAGGTGGTGAGTCGTAGCCCCAGACCTCAGGCATGGCAGAGGGTGTGGACTCCTGCATCCTGGCAGAGGGGGGGCTTGAGGTCGTGGACTAAGAGGGAGGAGGGGACAAGGAGCCTGGACTCCTGGGTCCTGGGATCTGAAGGTGGGAGGGGCTCCTGGGTCTTGGAAGAAGCTGCTGCCCACACACCTAGGTCTGAGGGAAGAGGATCATGGAGGCCAGGATACACCGGGAAGTCTTCCCAGGAAGCCTGACTCTCTTTCCCTTTGGCCAAGGTGGGCAGCTGGGAGCAGCAGACGCTCCGCCTCAAGT... | CAGGACGTGGGAGGTGGTGAGTCGTAGCCCCAGACCTCAGGCATGGCAGAGGGTGTGGACTCCTGCATCCTGGCAGAGGGGGGGCTTGAGGTCGTGGACTAAGAGGGAGGAGGGGACAAGGAGCCTGGACTCCTGGGTCCTGGGATCTGAAGGTGGGAGGGGCTCCTGGGTCTTGGAAGAAGCTGCTGCCCACACACCTAGGTCTGAGGGAAGAGGATCATGGAGGCCAGGATACACCGGGAAGTCTTCCCAGGAAGCCTGACTCTCTTTCCCTTTGGCCAAGGTGGGCAGCTGGGAGCAGCAGACGCTCCGCCTCAAGT... |
Task1_train_27440 | The gene GRIN2D, LOC130064857 (glutamate ionotropic receptor NMDA type subunit 2D| ATAC-STARR-seq lymphoblastoid active region 14894), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Developmental and epileptic encephalopathy, 46 | AGCACACTGCAGAGGAGTGACAAGGTCCTATTTATGCCCCACCAAGTTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGA... | AGCACACTGCAGAGGAGTGACAAGGTCCTATTTATGCCCCACCAAGTTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGA... |
Task1_train_27441 | A change on Chromosome 19 affects gene GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | CTATTTATGCCCCACCAAGTTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCA... | CTATTTATGCCCCACCAAGTTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCA... |
Task1_train_27442 | The variant affects gene GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy, 46 | TTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTT... | TTGCCCAGCAGAGGTGACAGGCGTGTCCCCAGCTGCCGCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTT... |
Task1_train_27443 | This mutation occurs in GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Developmental and epileptic encephalopathy, 46 | GCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAC... | GCAGTGACAGTCCAGGGTGCTGACCTTGCTGTGACGGGGGCAGTCCTGACAGCTCACACTTGGCCCTGGAAAGTTGAATCACCTGGTCCTAATCTCAATGAAATGGTGATTTGGGTTTATTGTTGGTGAGCTCCCAGGGGCTAAACACAGTTATCGAATGTGAGGAGGGGACACATGAATGGGAGGTTGTCTAATGGACAGGGCAGGGTGTTAACTCTAGCAGGGACACCTAGGAGACAAGGAAGAGAGGGTGTCGCTGATTCAGGCACCTGCGAGTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCAC... |
Task1_train_27444 | The gene SULT2B1 (sulfotransferase family 2B member 1) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 1 | TCAACGACTTAGCAAAACTCATAGTGTTCAGCAAAGCTGCTGGACTCCCGGGTTATAGTCAATTACAATGAAAGCAAACGTGAAAATCAGGCAAGGGGGCCGGGCGCGGTGGCTCACGCCTGAAATCCCAGCACTTTCAGAGGCCAAGGTGAGCAGTTGATTGAGCCCAGGAGTTCAAGACCAGCTGGGCAACTTAGAAACACCCATCTCTACAAAAAAGTTTAAAAATTCGTCACGTGTAGTGGCATACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAAGATCACTTGAGCCTGGGAGTTTCAGGCTGCAG... | TCAACGACTTAGCAAAACTCATAGTGTTCAGCAAAGCTGCTGGACTCCCGGGTTATAGTCAATTACAATGAAAGCAAACGTGAAAATCAGGCAAGGGGGCCGGGCGCGGTGGCTCACGCCTGAAATCCCAGCACTTTCAGAGGCCAAGGTGAGCAGTTGATTGAGCCCAGGAGTTCAAGACCAGCTGGGCAACTTAGAAACACCCATCTCTACAAAAAAGTTTAAAAATTCGTCACGTGTAGTGGCATACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAAGATCACTTGAGCCTGGGAGTTTCAGGCTGCAG... |
Task1_train_27445 | Located on Chromosome 19, this mutation impacts SULT2B1 (sulfotransferase family 2B member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | AAAATTAGCCAGGCATGGTGGTGCATGCCTATAATCCCAGCAGCTACTTTGGAGGCTGAGGCAGGAGAATCACTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTGACAGAGCCAGGCTTAGTCTCATTGTAATCCCAGCACTTTGGGAGGCCGAAGTGAGCAGATCACCCGAGGGTGGGAGTTCGAGACTACCCTGACCAACATGGAGAAACCCTGTCTTTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAAGCTGAG... | AAAATTAGCCAGGCATGGTGGTGCATGCCTATAATCCCAGCAGCTACTTTGGAGGCTGAGGCAGGAGAATCACTGGAACCCAGGAGGTGGAGGTTGCAGTAAGCTGAGATAGCACCACTGCACTCCAGCCTGGGTGACAGAGCCAGGCTTAGTCTCATTGTAATCCCAGCACTTTGGGAGGCCGAAGTGAGCAGATCACCCGAGGGTGGGAGTTCGAGACTACCCTGACCAACATGGAGAAACCCTGTCTTTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAAGCTGAG... |
Task1_train_27446 | The gene RPL18 (ribosomal protein L18) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Diamond-Blackfan anemia 18 | TAACACACACAGAGCACTGTCAGCAAAAATCTTTTTAATAAGAGAGTAGGATCCAGGGTTAGTTTTTGTAGCCTCGGCTGGCCCGTCGGCCTCTGGCACGCTCGAACTTCCGGCCCTTGGAGCGGACGTAGGGTCTGTGGGGAGAGGAGGGAGTGAGAGGGGGGCCCTCTTAAAGGAGGCCATTGTGGAGTGGCACAGGAACACCACAAGCCTGTCACATTCAGCCCCAGGAGAGTCAATGCTGCTGGAAAAGCTTGGCAGAGTGGGAAGCCAAGGAGCCAGGAGGGGCTATGGAAGCACCTGCCCCACCACCTGGAGGG... | TAACACACACAGAGCACTGTCAGCAAAAATCTTTTTAATAAGAGAGTAGGATCCAGGGTTAGTTTTTGTAGCCTCGGCTGGCCCGTCGGCCTCTGGCACGCTCGAACTTCCGGCCCTTGGAGCGGACGTAGGGTCTGTGGGGAGAGGAGGGAGTGAGAGGGGGGCCCTCTTAAAGGAGGCCATTGTGGAGTGGCACAGGAACACCACAAGCCTGTCACATTCAGCCCCAGGAGAGTCAATGCTGCTGGAAAAGCTTGGCAGAGTGGGAAGCCAAGGAGCCAGGAGGGGCTATGGAAGCACCTGCCCCACCACCTGGAGGG... |
Task1_train_27447 | Gene FUT1 (fucosyltransferase 1 (H blood group)) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Para-Bombay phenotype | AGACTGTGAACAGAGCAAGACGCTGGCCAACTAGAGATGGTTTGTTTTCCATCTCAATTTTTCCAGCAATGGTGGAACATTCATTAGATGCTACAATTAGGTTGCACATTCATTAGATTCTTCACTTGGCCCGGTGTGCTGGCTCACATCTATAAACCCAGCATTCTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTGAAGAACAGCCTGGGCAATATCACAAGACCTCGTCTCTACAAAAATTAAAAAAAATTATCCGGGCCAGGCATGGTGGCTCACGCCGGTAATCCCAGCACTGTGGGAGGCCGAGG... | AGACTGTGAACAGAGCAAGACGCTGGCCAACTAGAGATGGTTTGTTTTCCATCTCAATTTTTCCAGCAATGGTGGAACATTCATTAGATGCTACAATTAGGTTGCACATTCATTAGATTCTTCACTTGGCCCGGTGTGCTGGCTCACATCTATAAACCCAGCATTCTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTGAAGAACAGCCTGGGCAATATCACAAGACCTCGTCTCTACAAAAATTAAAAAAAATTATCCGGGCCAGGCATGGTGGCTCACGCCGGTAATCCCAGCACTGTGGGAGGCCGAGG... |
Task1_train_27448 | The variant affects gene FUT1 (fucosyltransferase 1 (H blood group)), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Para-Bombay phenotype | CTCACATCTATAAACCCAGCATTCTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTGAAGAACAGCCTGGGCAATATCACAAGACCTCGTCTCTACAAAAATTAAAAAAAATTATCCGGGCCAGGCATGGTGGCTCACGCCGGTAATCCCAGCACTGTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAT... | CTCACATCTATAAACCCAGCATTCTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTGAAGAACAGCCTGGGCAATATCACAAGACCTCGTCTCTACAAAAATTAAAAAAAATTATCCGGGCCAGGCATGGTGGCTCACGCCGGTAATCCCAGCACTGTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAT... |
Task1_train_27449 | This sequence variant lies in BCAT2 (branched chain amino acid transaminase 2) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypervalinemia and hyperleucine-isoleucinemia | ACGACAAGGAGTAATGGGCGGACCTGAACCCGCGACGAGGGGCTGGGGGCCAAGATGCCTGGGTCGGCCCTTACGGCTTTGGGAGTGTCGCAACCACATGGGGGCGCCAGAGACCCAGACGCCGCCCGCTGGCCTTTTATTTCGTATTGCACTTCAGGTGAGTCATTGGTAGGGAGGCGAGTGCTGGCGTGACGAGATGCTACGGGTCGGTGGATCTGGAGCACAGCCTGCAGCTTCACACCGGGAACATCCACTCGTGGGCTCTGATTCCGTACTGCGGAACAACGGAGGCAGTGCGTGAGGTGGAAGCTGCACTACAA... | ACGACAAGGAGTAATGGGCGGACCTGAACCCGCGACGAGGGGCTGGGGGCCAAGATGCCTGGGTCGGCCCTTACGGCTTTGGGAGTGTCGCAACCACATGGGGGCGCCAGAGACCCAGACGCCGCCCGCTGGCCTTTTATTTCGTATTGCACTTCAGGTGAGTCATTGGTAGGGAGGCGAGTGCTGGCGTGACGAGATGCTACGGGTCGGTGGATCTGGAGCACAGCCTGCAGCTTCACACCGGGAACATCCACTCGTGGGCTCTGATTCCGTACTGCGGAACAACGGAGGCAGTGCGTGAGGTGGAAGCTGCACTACAA... |
Task1_train_27450 | Chromosome 19 houses a mutation in gene BCAT2 (branched chain amino acid transaminase 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hypervalinemia and hyperleucine-isoleucinemia | AACTGGGGCATGCAGCACCATGTCCGGCTAATTTATATTCACATTTATATTTATATGCCCGCCTCAGCCCCCCAAAGTGCTGGGATTACAAGAGTGAGCCACAGCGCCCGGCCTTACTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCTACCGCGCCTGGCTCCAAAACCGTTTCTGTTGTCACCTCCTCGAGAGGTGTTTCCAGACCTCCAGGCTGGGTGCTGGACCTTCC... | AACTGGGGCATGCAGCACCATGTCCGGCTAATTTATATTCACATTTATATTTATATGCCCGCCTCAGCCCCCCAAAGTGCTGGGATTACAAGAGTGAGCCACAGCGCCCGGCCTTACTTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCTACCGCGCCTGGCTCCAAAACCGTTTCTGTTGTCACCTCCTCGAGAGGTGTTTCCAGACCTCCAGGCTGGGTGCTGGACCTTCC... |
Task1_train_27451 | This variant affects gene BAX (BCL2 associated X, apoptosis regulator) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; T-cell acute lymphoblastic leukemia | CTTGAACCCGGAGGCAGAGGTTGCAGTAAGCCGAGATCGTGCCATTGCACTCCATCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATGTGTATACCCATGTAAACACCATTCAGATAAAAATATGGCATATTTGGGGCACCCGGGGAGTGTCTCTTGTGGCCCCTCCCCTCCATACCCTGCTGATCTATCAGCACAGATTAGTTTCTGCCACTTTTTAAACTTCATATTCCTTTTCTTTTTACACAAACACAAACATTCGAGTCATGACTGGGTGGGGTGGC... | CTTGAACCCGGAGGCAGAGGTTGCAGTAAGCCGAGATCGTGCCATTGCACTCCATCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATGTGTATACCCATGTAAACACCATTCAGATAAAAATATGGCATATTTGGGGCACCCGGGGAGTGTCTCTTGTGGCCCCTCCCCTCCATACCCTGCTGATCTATCAGCACAGATTAGTTTCTGCCACTTTTTAAACTTCATATTCCTTTTCTTTTTACACAAACACAAACATTCGAGTCATGACTGGGTGGGGTGGC... |
Task1_train_27452 | A variant was discovered on Chromosome 19, affecting FTL (ferritin light chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neuroferritinopathy | GGCTTCTCTTTGTGGGCCTGAAGGAGCACACGTCAGGCAAGACACGAGGGCAACTTCAGAGACACTGTTCAGGGCCACGGAGAATTCTCGAAGTCTGTGAGTTGTCTCCAAAACAGCCTCCAGGAAATGCAATCCCAGAGACACCGCAAAGCTCAAAACAGACTTTTCATTCCTCCCCATTTCCACTCCCAGAAAAAGCCTGGGCCCCTGAAAGAGCTCCAAGGTATCCCCAAAGTCCCAGCCCATCTTTGGAGGGTTCCAGAGGGCTGTCCAGGGTTCCAGAAGTCACCCTACCTCATACAATGCTCCTCCTGGGCTTC... | GGCTTCTCTTTGTGGGCCTGAAGGAGCACACGTCAGGCAAGACACGAGGGCAACTTCAGAGACACTGTTCAGGGCCACGGAGAATTCTCGAAGTCTGTGAGTTGTCTCCAAAACAGCCTCCAGGAAATGCAATCCCAGAGACACCGCAAAGCTCAAAACAGACTTTTCATTCCTCCCCATTTCCACTCCCAGAAAAAGCCTGGGCCCCTGAAAGAGCTCCAAGGTATCCCCAAAGTCCCAGCCCATCTTTGGAGGGTTCCAGAGGGCTGTCCAGGGTTCCAGAAGTCACCCTACCTCATACAATGCTCCTCCTGGGCTTC... |
Task1_train_27453 | The variant affects gene LHB (luteinizing hormone subunit beta), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Isolated lutropin deficiency | CTTGATCCAGTAATCCTGGAGGCAGAGATCTAGCTTAAAGCAGCCCAGCTCCGCGGAAAGGTGCCCTTGGGGGACTGACGCAGCTGTGGAAGGCTGCGTCATCAGGGGTGATGTCATCATGTGACAGGAGACGCGAGCTAAAGGTTAAGTGGTGTTGGGCCCAGTGAGTGGGTGGCGATGGGAGGTGAGAGTGTTCCCAGCAAAGGGAATGAAGAGGGAACATGCCCCTGACAGCCCCCTCTTTCTGCCTCTTCCTCAGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTG... | CTTGATCCAGTAATCCTGGAGGCAGAGATCTAGCTTAAAGCAGCCCAGCTCCGCGGAAAGGTGCCCTTGGGGGACTGACGCAGCTGTGGAAGGCTGCGTCATCAGGGGTGATGTCATCATGTGACAGGAGACGCGAGCTAAAGGTTAAGTGGTGTTGGGCCCAGTGAGTGGGTGGCGATGGGAGGTGAGAGTGTTCCCAGCAAAGGGAATGAAGAGGGAACATGCCCCTGACAGCCCCCTCTTTCTGCCTCTTCCTCAGAATCCGGGGCACCAGCTACCAGAGCCCTCACGGCATCCCCATAGACCTGCTGGACCGGCTG... |
Task1_train_27454 | This mutation is located in gene LHB (luteinizing hormone subunit beta) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Isolated lutropin deficiency | GGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGACTGGTGTTGGGGCCAGCGCCCTGGGGGTGGTCAGGA... | GGCATCCCCATAGACCTGCTGGACCGGCTGCTTATCGTCTCCACCACCCCCTACAGCGAGAAAGACACGAAGCAGATCCTCCGCATCCGGTGCGGGCAGGACCAGGCCGTGCGCCTGAGACGCAGGGCTGGGGTCTACCCTGTTTGACAAATGCTGACACTGAGGTCCAGCGGAGTGGCATGGTGGCTGGGCCTACAGGAGAGAGGGCTGAGCGGGCACCCAGACGGTGGCCTCCGATCCGGGAGCAGGAGCCACGGTGGGAAAGGGAGGCGAGGTACCCGTGACTGGTGTTGGGGCCAGCGCCCTGGGGGTGGTCAGGA... |
Task1_train_27455 | This mutation occurs in NTF4 (neurotrophin 4) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Glaucoma 1, open angle, O | GAAAGGGATCTAGAGAGAAGTGCACCGGACCATAGCGAAAAAGATGGGCTTTGATGAGTGAGGAATAAATACAACAAGAAAGGGGAGAGACAGGGAGGAAGAAAGAGACCACGATGGAAAGGGAGCTATTAGTACTACCCAGAGGCGACAGACACTGGAAGTTAGAGACAGAGATGAAGGTGGCAAAAACGACCAAAGTCACAGATGGAAAACAAGGAGACGTAGAAACTGAGGCAGCCACGCCCCACCCTGCCCAGGGGCCTGGTCTGTATAGATGCGGGGAGAAGTTGCCTATGTCCTTTGCTCAAAGCTGGACCTGA... | GAAAGGGATCTAGAGAGAAGTGCACCGGACCATAGCGAAAAAGATGGGCTTTGATGAGTGAGGAATAAATACAACAAGAAAGGGGAGAGACAGGGAGGAAGAAAGAGACCACGATGGAAAGGGAGCTATTAGTACTACCCAGAGGCGACAGACACTGGAAGTTAGAGACAGAGATGAAGGTGGCAAAAACGACCAAAGTCACAGATGGAAAACAAGGAGACGTAGAAACTGAGGCAGCCACGCCCCACCCTGCCCAGGGGCCTGGTCTGTATAGATGCGGGGAGAAGTTGCCTATGTCCTTTGCTCAAAGCTGGACCTGA... |
Task1_train_27456 | A genomic change on Chromosome 19 affects LOC130064903, PPFIA3 (ATAC-STARR-seq lymphoblastoid silent region 10914| PTPRF interacting protein alpha 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | TTTGTTTGTTTGTTTGTTTTGTTTTTTTTTGAGACTGGGTCTCTCTATATCGCCAAGCTGGAGTGCAGTGGCACGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCAAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCAATCTCTTGACCTCGTGATCCAACAGCCTCAGCCTCCCAAAGTGCTGGGATTACATGAGTGGGCCACCTTGCCCGGCCGTTACTGTGTTT... | TTTGTTTGTTTGTTTGTTTTGTTTTTTTTTGAGACTGGGTCTCTCTATATCGCCAAGCTGGAGTGCAGTGGCACGATCTTGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCGTGCCACCACGCAAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGGCTCAATCTCTTGACCTCGTGATCCAACAGCCTCAGCCTCCCAAAGTGCTGGGATTACATGAGTGGGCCACCTTGCCCGGCCGTTACTGTGTTT... |
Task1_train_27457 | Gene PPFIA3 (PTPRF interacting protein alpha 3), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | TGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGATGTCGGGCGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCCGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTTGAGGCATAAGAATCACTTGAGCTTGGGAGGTGGAAGTTGCAGTAAGCCGAGATCCGTACCACTGCACTCCAGCCAGAGTGCTGGTTGCTCATGCCTGTAATCCCAGCACTTTGGG... | TGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGATGTCGGGCGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGCCCGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGTTGAGGCATAAGAATCACTTGAGCTTGGGAGGTGGAAGTTGCAGTAAGCCGAGATCCGTACCACTGCACTCCAGCCAGAGTGCTGGTTGCTCATGCCTGTAATCCCAGCACTTTGGG... |
Task1_train_27458 | Here is a mutation in TRPM4 (transient receptor potential cation channel subfamily M member 4) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; TRPM4-related disorder | GTATTGAGGCCCTAGAATGGGGGGAAAGGAACATGGCCCCCAACACACGTGCCCATGACCTCCTGTCCCTGGAACTCAGATCTGGGGGCAGGGACTGGGCTAGGCCAGGGCTATAAATACAGCTGGGAGGGGTAGGGGGACTCAGGTTACGGAGGCCACAGCTGTCCCCATCACAGAGGGCTGGCAGGAGACAAGTGGCCTTGCCCGTCTCTGTGTGTCAGTATTTCCTACTCCTCACCCTTCATGACTGCCCCCACTAGGGTCTCCTTTCCTGTTCACGGGTCCTCCTCTCTCTTCAATTCTGTCATCTGCTCTCTCAG... | GTATTGAGGCCCTAGAATGGGGGGAAAGGAACATGGCCCCCAACACACGTGCCCATGACCTCCTGTCCCTGGAACTCAGATCTGGGGGCAGGGACTGGGCTAGGCCAGGGCTATAAATACAGCTGGGAGGGGTAGGGGGACTCAGGTTACGGAGGCCACAGCTGTCCCCATCACAGAGGGCTGGCAGGAGACAAGTGGCCTTGCCCGTCTCTGTGTGTCAGTATTTCCTACTCCTCACCCTTCATGACTGCCCCCACTAGGGTCTCCTTTCCTGTTCACGGGTCCTCCTCTCTCTTCAATTCTGTCATCTGCTCTCTCAG... |
Task1_train_27459 | Gene TRPM4 (transient receptor potential cation channel subfamily M member 4) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Progressive familial heart block type IB | GCTTAAAAGGGAGAAACGGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGTGAAAAGAGCAAAACTCTGTCAAAAAAAAAAAAAAAAAAAA... | GCTTAAAAGGGAGAAACGGGCCTGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGTGAAAAGAGCAAAACTCTGTCAAAAAAAAAAAAAAAAAAAA... |
Task1_train_27460 | This sequence variant lies in TRPM4 (transient receptor potential cation channel subfamily M member 4) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Erythrokeratodermia variabilis et progressiva 6 | AAGGCCATCGTTCATTCAGTCATTACTTAATAGGCGCAGCCATTTTAAAAATGGGTGCCAGGGCCCTGCATGGACCAGCTTGGTACTGAATAAATTTGAGTAAACCCCGGGTGACTGGGAGGGTCCTGGTCCTGCCCGGTGGAGGCTGCAGCTTCCTCTGAAGGATGGCATTGGGAAGACTTCCATTTTCCTTGGCGTCTTGTGACACTTGACCCTTGTGGCATCTCCCCACACCCCAGGCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATGGTTTTCACGGTGCGGCTGCTTCACAT... | AAGGCCATCGTTCATTCAGTCATTACTTAATAGGCGCAGCCATTTTAAAAATGGGTGCCAGGGCCCTGCATGGACCAGCTTGGTACTGAATAAATTTGAGTAAACCCCGGGTGACTGGGAGGGTCCTGGTCCTGCCCGGTGGAGGCTGCAGCTTCCTCTGAAGGATGGCATTGGGAAGACTTCCATTTTCCTTGGCGTCTTGTGACACTTGACCCTTGTGGCATCTCCCCACACCCCAGGCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATGGTTTTCACGGTGCGGCTGCTTCACAT... |
Task1_train_27461 | Consider this mutation in CPT1C (carnitine palmitoyltransferase 1C) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary spastic paraplegia 73 | CCGGCCTGCAGCGAGGGGGCTAGCGCAGTGCCCAGCTCGCTGGGTGACCTCGGGCACGGCTCGTCCCCTCCTCGGCTTCAGTTTGCCTATCTGTATGTTGGAGCTTCTACTCCACATTTCTTCTCCCCTAACTCCAGCCCCTGAAACCGTCTTCCCCAGTCCCTCCCCGGGCTGCGACTAGGTTGGACCTAGAAGCACACGGGACCAGGCTGGGCGAAGAACACTGACGCCCAGAGCCGAATAAACAAGAGTTCCGTGTTTCAGTCTCTGCTTCTCTGTACCTATTTCGACCTCTCAGTCGAGGCTGGGTCTCTAATATA... | CCGGCCTGCAGCGAGGGGGCTAGCGCAGTGCCCAGCTCGCTGGGTGACCTCGGGCACGGCTCGTCCCCTCCTCGGCTTCAGTTTGCCTATCTGTATGTTGGAGCTTCTACTCCACATTTCTTCTCCCCTAACTCCAGCCCCTGAAACCGTCTTCCCCAGTCCCTCCCCGGGCTGCGACTAGGTTGGACCTAGAAGCACACGGGACCAGGCTGGGCGAAGAACACTGACGCCCAGAGCCGAATAAACAAGAGTTCCGTGTTTCAGTCTCTGCTTCTCTGTACCTATTTCGACCTCTCAGTCGAGGCTGGGTCTCTAATATA... |
Task1_train_27462 | A variant affecting Chromosome 19, within the gene MED25 (mediator complex subunit 25), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | TTATGTTTTAAAATATTTACTGGCCATTCAAAATTTTGTGTGTGTGTTTGTGTGAAACTAGTCAGGTTTCTTTTTATTTATTTATTTTTATTTTTTTTGAGACGGAGTCTAACTCTGCCGCCCAGGCTGGAATGCAGTGGCACAATCTCAGTTGACTGCAACCTCCGCCTCCCGGGTTCAGGAGAATCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCACCAGGACGGCTAATTTTTTTATTTTTAGTAGTTAGAAGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACCCCTTACCTCGGGTGATC... | TTATGTTTTAAAATATTTACTGGCCATTCAAAATTTTGTGTGTGTGTTTGTGTGAAACTAGTCAGGTTTCTTTTTATTTATTTATTTTTATTTTTTTTGAGACGGAGTCTAACTCTGCCGCCCAGGCTGGAATGCAGTGGCACAATCTCAGTTGACTGCAACCTCCGCCTCCCGGGTTCAGGAGAATCTCCTGACTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCACCAGGACGGCTAATTTTTTTATTTTTAGTAGTTAGAAGGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACCCCTTACCTCGGGTGATC... |
Task1_train_27463 | Mutation context: Chromosome 19, Gene MED25 (mediator complex subunit 25). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease type 2 | TGGGTTGGTTCCAGTCTTGATGGACACGGTTGGGCCTGTAGACGTTCATTCACTTAGCCTACATTTCCTGAGGCCTCACATGTGCCCCGCTGTGGTGGGCAAGCCTGGGGGTAAGAGAGGACTCAGACCCCATCCCCGCCTGTGGGAGAGGTAGGATCAGAGACCACACTTCAGGGGGACAGGGCCCTCAAGACCCTCAGAGGGGTGCTCGGTCTCCACACACGTCCCCTGCAGCAAAGGTCAGCCTCTCACGACCACGTGACCGGAATAATGGTGGCAACCACAGCTGCCCTTGAGGAGAGGCCATCCCCGGGCCACAA... | TGGGTTGGTTCCAGTCTTGATGGACACGGTTGGGCCTGTAGACGTTCATTCACTTAGCCTACATTTCCTGAGGCCTCACATGTGCCCCGCTGTGGTGGGCAAGCCTGGGGGTAAGAGAGGACTCAGACCCCATCCCCGCCTGTGGGAGAGGTAGGATCAGAGACCACACTTCAGGGGGACAGGGCCCTCAAGACCCTCAGAGGGGTGCTCGGTCTCCACACACGTCCCCTGCAGCAAAGGTCAGCCTCTCACGACCACGTGACCGGAATAATGGTGGCAACCACAGCTGCCCTTGAGGAGAGGCCATCCCCGGGCCACAA... |
Task1_train_27464 | A variant affecting Chromosome 19, within the gene MED25 (mediator complex subunit 25), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome | TGGGTTGGTTCCAGTCTTGATGGACACGGTTGGGCCTGTAGACGTTCATTCACTTAGCCTACATTTCCTGAGGCCTCACATGTGCCCCGCTGTGGTGGGCAAGCCTGGGGGTAAGAGAGGACTCAGACCCCATCCCCGCCTGTGGGAGAGGTAGGATCAGAGACCACACTTCAGGGGGACAGGGCCCTCAAGACCCTCAGAGGGGTGCTCGGTCTCCACACACGTCCCCTGCAGCAAAGGTCAGCCTCTCACGACCACGTGACCGGAATAATGGTGGCAACCACAGCTGCCCTTGAGGAGAGGCCATCCCCGGGCCACAA... | TGGGTTGGTTCCAGTCTTGATGGACACGGTTGGGCCTGTAGACGTTCATTCACTTAGCCTACATTTCCTGAGGCCTCACATGTGCCCCGCTGTGGTGGGCAAGCCTGGGGGTAAGAGAGGACTCAGACCCCATCCCCGCCTGTGGGAGAGGTAGGATCAGAGACCACACTTCAGGGGGACAGGGCCCTCAAGACCCTCAGAGGGGTGCTCGGTCTCCACACACGTCCCCTGCAGCAAAGGTCAGCCTCTCACGACCACGTGACCGGAATAATGGTGGCAACCACAGCTGCCCTTGAGGAGAGGCCATCCCCGGGCCACAA... |
Task1_train_27465 | The gene PNKP (polynucleotide kinase 3'-phosphatase) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Developmental and epileptic encephalopathy, 12 | AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCC... | AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCC... |
Task1_train_27466 | A variant affecting Chromosome 19, within the gene PNKP (polynucleotide kinase 3'-phosphatase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Inborn genetic diseases | AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCC... | AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCC... |
Task1_train_27467 | This alteration occurs within gene PNKP (polynucleotide kinase 3'-phosphatase) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Microcephaly, seizures, and developmental delay | AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCC... | AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCC... |
Task1_train_27468 | This genomic variant is located on Chromosome 19, within the PNKP (polynucleotide kinase 3'-phosphatase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Ataxia - oculomotor apraxia type 4 | AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCC... | AGGTCCTGCAGCGGAACCTGGAGCAGGAGCAACAGCAACGAGGGGTGAGGTGGCCGGCCTCCAGGGCTGCTCAGTCTCCCTCCACCCCCGCTGCCTGCTCACCACTGGCCTCTGATTTCTCGCCGTAGATGGGGGGGTAGTGGTTACCCCGGGCTGGGCCCCTCCAGGAGTCACAGATGAGGCCCCCGCAGAGACTGGTGAGTGGTGACCCTGTCATGTACAGGAGGGACCCTGGGGCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCC... |
Task1_train_27469 | This is a variant in PNKP (polynucleotide kinase 3'-phosphatase), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Abnormality of the nervous system | GCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGAC... | GCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGAC... |
Task1_train_27470 | A change on Chromosome 19 affects gene PNKP (polynucleotide kinase 3'-phosphatase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 12 | GCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGAC... | GCATGTGGGGGGGGTGGGGTTGGGAAAGAAGCAGGGCGACCTTGGCCTTGGGGAGAGCAGAGCAGAGGGAGAGGCAGCAGTCCCAGCGGTCCTAGGCTGTCGGGAAACTGCAGCCCAGCCTCAGGGCCATGGGAGGTGGTATCCAGGCCTGGGTGGGGCCAGGCCTCTGCTCACAGGGATGTGGGGTCAGTGCTTGGGAGCCTGTGGCCAGCAGCCCCCACTGCACCCCTGCCCCCAGGTGACACGCTTCTGAGCAGGGGCCCCTGGGGACTTCAACTGCCCAGCAACATGGAGGATGGTGTCCTGAGGCCTCCAAGGAC... |
Task1_train_27471 | Consider a variant on Chromosome 19 in gene PNKP (polynucleotide kinase 3'-phosphatase). Determine its clinical classification and disease relevance. | Pathogenic; Microcephaly, seizures, and developmental delay | GAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAG... | GAGCCCTCCCATCCCCACCCCCACCCCCGCCCCAGGGCCTCACCGGATCAAAGGCTGGGAGCTCGAAGCCGGCTGCTGGCCACTTGAGAAAGAACTCCTCAGGCGTGGCGAAGGGCAGGCCAAGGTTGAGGGCAAACTAGGGGTTGAGGACGAACATCAGACACAGGCCAGGGTCGGGCTCGGGCGCGGGGCAGGGGGCAGGGGCCTCACCAGGCGATCGGCGCAGGAGAAGTCTTTCTTCTTCCGCCCCGGGGCCCAGTTGGCCGGGCGTCCGGCTGCGTCTGGAACACACGGGACACCCCGTTCCCACCAGCTCGGAG... |
Task1_train_27472 | Consider a variant on Chromosome 19 in gene PNKP (polynucleotide kinase 3'-phosphatase). Determine its clinical classification and disease relevance. | Pathogenic; not provided | ATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGG... | ATCATTAGGCCCATTTCTCAGAAAAGTAAGTAGAGGCTAAAAAGTTGAGAGCACGCAACAAACGTGGGATTGGGTCCCAGTCTGTGGCGGCTCCCTCAGCCCTCGGCGTGGCCCTCACCTTGCCCTGGGGTTTCACCCCAGCTGCGGTGAACACTAGCAACTTCTCCAAGTTCTCCCAGCCGGGGTTTGACTTCCGCATACGCTTCTTCGGCAGCTCAGCATCTCTCTTCTCATCTTGGGACACCAGAGGGGTGCCAGGCGGAGTATCTGGCTGGGATTCTGGTGTGCGGGTCTCTTCCCAGCGCAGGGTCAGTGGGTGG... |
Task1_train_27473 | This mutation is located in gene IL4I1, NUP62 (interleukin 4 induced 1| nucleoporin 62) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Infantile bilateral striatal necrosis | TTCCTCTTCTACCACTAGCACCACCCCTTCCTGGAGCAAACCACGATTTGCATTTGTCTATTACTCTGTCTCATCAAACAAAAGCTGCTTCATCGCATACCCCTATGTCTATGCAAGCACTACTTCATTTGCTTGCCTGTGCGTTTCATGTGAATGGCACCCCTGCAGAGTCTCCTGGAACCTGCTCTTTTTACTCAGCTTTCTCCTCCTAACATTTATCCATATTAACAGCAGCTGTTTTGGTTTCACAATACATTTATTTAGAAAAGCAACATACAGTAATAGGTATTTCAGAGAATTCAGCAAAGTATAAAGACAAA... | TTCCTCTTCTACCACTAGCACCACCCCTTCCTGGAGCAAACCACGATTTGCATTTGTCTATTACTCTGTCTCATCAAACAAAAGCTGCTTCATCGCATACCCCTATGTCTATGCAAGCACTACTTCATTTGCTTGCCTGTGCGTTTCATGTGAATGGCACCCCTGCAGAGTCTCCTGGAACCTGCTCTTTTTACTCAGCTTTCTCCTCCTAACATTTATCCATATTAACAGCAGCTGTTTTGGTTTCACAATACATTTATTTAGAAAAGCAACATACAGTAATAGGTATTTCAGAGAATTCAGCAAAGTATAAAGACAAA... |
Task1_train_27474 | A mutation in MYH14 (myosin heavy chain 14), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; MYH14-related disorder | GTAAAAAAGGAACGGGTAACATTAATTTAATGATATATTTTATTTAACCCAGTAGATTGAAAATATTATCATTTCAGCATGTCATCAAATATTTAAAATCTCAGCAAACTATCTTTTTGTTGTACTAAGTCTTGGAAATCTGGTGTGTATCTTACACTTAGAACTCCAGATGGGGATATTTATATTTAAATTTTAAGATGGGGCTCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGGAGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGAAGACCCTGTCTCTACAAAACA... | GTAAAAAAGGAACGGGTAACATTAATTTAATGATATATTTTATTTAACCCAGTAGATTGAAAATATTATCATTTCAGCATGTCATCAAATATTTAAAATCTCAGCAAACTATCTTTTTGTTGTACTAAGTCTTGGAAATCTGGTGTGTATCTTACACTTAGAACTCCAGATGGGGATATTTATATTTAAATTTTAAGATGGGGCTCGGTGGCTCACACCTGTAATCCCAGTACTTTGGGGAGCCAAGGCAGGAGGATCGCTTGAGCCCAGGAGTTTGAGACCAGTCTGGGCAACATAGAAGACCCTGTCTCTACAAAACA... |
Task1_train_27475 | Given this context: Chromosome 19, gene MYH14 (myosin heavy chain 14) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal dominant nonsyndromic hearing loss 4A | CTACCTTACAGGCTGTGTGAGGTCCTTCATATGTAAAGTGCCAGTTGTGATAAATGATAAGACCCTTGACCTTTGGCCCAGGTCCCTAAAACTGACCCTGACCTCCTTCTCTCTCTCTCTGCATCTCCATCTGACAGTGGAGGGCATCGTGGGGCTGGAACAGGTGAGCAGCCTGGGCGACGGCCCACCAGGTGGCCGCCCCCGTCGGGGTATGTTCCGGACAGTGGGACAGCTCTACAAGGAGTCCCTGAGCCGCCTCATGGCCACACTCAGCAACACCAACCCCAGTTTTGTCCGCTGCATTGTCCCCAACCACGAGA... | CTACCTTACAGGCTGTGTGAGGTCCTTCATATGTAAAGTGCCAGTTGTGATAAATGATAAGACCCTTGACCTTTGGCCCAGGTCCCTAAAACTGACCCTGACCTCCTTCTCTCTCTCTCTGCATCTCCATCTGACAGTGGAGGGCATCGTGGGGCTGGAACAGGTGAGCAGCCTGGGCGACGGCCCACCAGGTGGCCGCCCCCGTCGGGGTATGTTCCGGACAGTGGGACAGCTCTACAAGGAGTCCCTGAGCCGCCTCATGGCCACACTCAGCAACACCAACCCCAGTTTTGTCCGCTGCATTGTCCCCAACCACGAGA... |
Task1_train_27476 | A variant on Chromosome 19 in gene MYH14 (myosin heavy chain 14) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | CTGAATCATGCCATGTAAAGCTCATCTCTCACTAAGGACCTTGGACTAACAGGCTTAAGAAACACTGGCCTTTGGCCAGGCATGGTGGCTCATGCCTATATCCCAACACTTTGGGAGGCTGAGGTGGGTGGATTACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATAGCGAAACCCTCTCTACTGAAAGCACAAAAATTAGCCGGACGTGGTGGCATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCACCACTGCACT... | CTGAATCATGCCATGTAAAGCTCATCTCTCACTAAGGACCTTGGACTAACAGGCTTAAGAAACACTGGCCTTTGGCCAGGCATGGTGGCTCATGCCTATATCCCAACACTTTGGGAGGCTGAGGTGGGTGGATTACTTGAGGCCGGGAGTTGGAGACCAGCCTGGCCAACATAGCGAAACCCTCTCTACTGAAAGCACAAAAATTAGCCGGACGTGGTGGCATACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCCCACCACTGCACT... |
Task1_train_27477 | Given this variant in gene MYH14 (myosin heavy chain 14) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TTCAGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTTCCAAGGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGTAGTGTTTTAATCAACTTCTCTTGATCCCTTTGGTGAGGGAGGGACCCTACCCTAGGTTTATGGGGATGGCTGAGCACACAGCACTGGGCACCAGACAGGTGAGGGGGGCCGACATCACACCACAGACGGCCACATGGATGTTGCCCTCAAGAGCAGAGTGAACAAGCAGGGGCTGTGGGAAACAGGCTTTGTCACAACAACAGGTGGAGG... | TTCAGTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTCAGCCTTCCAAGGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCCAGTAGTGTTTTAATCAACTTCTCTTGATCCCTTTGGTGAGGGAGGGACCCTACCCTAGGTTTATGGGGATGGCTGAGCACACAGCACTGGGCACCAGACAGGTGAGGGGGGCCGACATCACACCACAGACGGCCACATGGATGTTGCCCTCAAGAGCAGAGTGAACAAGCAGGGGCTGTGGGAAACAGGCTTTGTCACAACAACAGGTGGAGG... |
Task1_train_27478 | The gene KCNC3 (potassium voltage-gated channel subfamily C member 3) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | GGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCT... | GGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCT... |
Task1_train_27479 | Mutation context: Chromosome 19, Gene KCNC3 (potassium voltage-gated channel subfamily C member 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Spinocerebellar ataxia type 13 | GGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCT... | GGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCT... |
Task1_train_27480 | This is a variant in KCNC3 (potassium voltage-gated channel subfamily C member 3), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Spinocerebellar ataxia type 13 | TAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGT... | TAGCTGGGCACAGTGGCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGT... |
Task1_train_27481 | Given a variant located on Chromosome 19 and affecting KCNC3 (potassium voltage-gated channel subfamily C member 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Spinocerebellar ataxia type 13 | GCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAG... | GCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAG... |
Task1_train_27482 | Here is a mutation in KCNC3 (potassium voltage-gated channel subfamily C member 3) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Inborn genetic diseases | GCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAG... | GCGGGCGCCTGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAG... |
Task1_train_27483 | This variant affects the gene KCNC3 (potassium voltage-gated channel subfamily C member 3) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Spinocerebellar ataxia type 13 | TGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGG... | TGTAATCCCAGCTACTCCGGAGGCTGAGGTAGGTGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATGTTTCCACTGCACTCCGGCCTGGGAGACAGAGTGAGACTCCGTCTTGGAATAAGAAAAAAAAAAGAGAGAGATGGTTGCGGATGAAGCAAGCTGGGTGTCGGGGAGAAGATGAGGCAGTGTTGGGGGGTGGTTGGCTGGAGCAAACTTCAGGGGGCTTGGCTGGGGTAGGGGTAGCGGGTGGAGGCATGGCTGGAGAGGATGTGGCAAGCTAGGAAGTGGCTGTTCAGGGAAGAGTGCTGGG... |
Task1_train_27484 | A variant was discovered in gene POLD1 (DNA polymerase delta 1, catalytic subunit), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hereditary cancer-predisposing syndrome | CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCAT... | CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCAT... |
Task1_train_27485 | This variant affects the gene POLD1 (DNA polymerase delta 1, catalytic subunit) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Mandibular hypoplasia-deafness-progeroid syndrome | CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCAT... | CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCAT... |
Task1_train_27486 | A variant was discovered on Chromosome 19, affecting POLD1 (DNA polymerase delta 1, catalytic subunit). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Micrognathia | CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCAT... | CACAGGTGTCAGGCCCAGCTCTTCCTCGGTGGTGAAGCAGTGGAAAGAGTCGGCTTGGGCAGCTGTGGGTTCAGGCCCTGCCTCTGCCACTCTGCAGCCTATGGTAGGAAGGGCCCCTCTCTGCCCTGAGCCTCAGCCCTAAGAGCTCATCCTGGTCTCCAGCCCTGAGACCCGTGGAGGCACCAGCCTGGCCCTCAGTGCCTTTTGGTGACGCTGTGCGGCCCGCTCTCCTACAGAGACCCTGAGGGCGCGGTGGCTCACGCACAGGACGTCATCTCGGACCTGCTGTGCAACCGCATCGATATCTCCCAGCTGGTCAT... |
Task1_train_27487 | Mutation context: Chromosome 19, Gene ACP4 (acid phosphatase 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Amelogenesis imperfecta, type 1J | AGATGCCACCATACCGTGCCTGGCTAATTTTTGTTTATCTTTTATAGAGATGGAGTCGGGTGCGGGGGGTGGGTCTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAACCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCAGCTCCTGGTCTGGCTTAAGCCTCCAGCCCTTCTACTTCTTTATTCCAGGGGCCTCTACCCTATTTCAAGTACGAGGAGAGACAGAGATTCACAAAACTTTTGTATCTGGTGCAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGC... | AGATGCCACCATACCGTGCCTGGCTAATTTTTGTTTATCTTTTATAGAGATGGAGTCGGGTGCGGGGGGTGGGTCTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAACCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTGCCAGCTCCTGGTCTGGCTTAAGCCTCCAGCCCTTCTACTTCTTTATTCCAGGGGCCTCTACCCTATTTCAAGTACGAGGAGAGACAGAGATTCACAAAACTTTTGTATCTGGTGCAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGC... |
Task1_train_27488 | This gene mutation involves ACP4 (acid phosphatase 4) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; Amelogenesis imperfecta, type 1J | GACCACGAGCAAGCGGCTTCCTTGTGTTTTCTGTGGGATAAGGTAGGGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTC... | GACCACGAGCAAGCGGCTTCCTTGTGTTTTCTGTGGGATAAGGTAGGGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTC... |
Task1_train_27489 | A mutation on Chromosome 19 affecting ACP4 (acid phosphatase 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Amelogenesis imperfecta, type 1J | GCTTCCTTGTGTTTTCTGTGGGATAAGGTAGGGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCA... | GCTTCCTTGTGTTTTCTGTGGGATAAGGTAGGGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCA... |
Task1_train_27490 | This genomic variant is located on Chromosome 19, within the ACP4 (acid phosphatase 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Amelogenesis imperfecta, type 1J | GGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCAGGGGGTCAAGACTGTTGCTGAGACGAACAAT... | GGTAAAGAGTGGCTGGTTGCGCCATTTCAGCAGGCTCTGGGGCACAGGGGCTGTCCTGAGTTGTCCGATACCCTGCCCCGGGTGATCAGGGCAGGTGGATGGTGGCCTGGGTGGTGGGTTGGCTGGTTTGTACAGGAGAGGCATGCGCTTGGGCCAGTCCCTGACTATCTCCAGGAACTGGTAACCCTGGGAGGGGTGGTCCTTCTACGATCAGCAAGGCCCCTGATGTCAAAGCATCAGAGTACAGAAAATCAAGCACATAGTTACTATCGTCAGCCTCTGCAACTCAGGGGGTCAAGACTGTTGCTGAGACGAACAAT... |
Task1_train_27491 | Here’s a variant in ACP4 (acid phosphatase 4) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Amelogenesis imperfecta, type 1J | TCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGA... | TCCAGGGAGCCCCGAGGCCCGCTGGAGGCCGATCCCGGTGCACACGGTGCCCGTGGCTGAGGATAAGGTCAGGGGGCTGGACCCACGTGTGGCGAGGGAGGGAGCGGGTGGAGAGAGAGGCAGCTCTGGGTCTGGCCGCCTGAGCTGGCTCCGAGAAGCAAGACTGTCCTCGAGCTGGTCTGTCCAGACCAGGGTGAGCCCCGGCCCACGCTGCTCTCCTGGATCTGGGAGAAACTGCGACAAAGACGCAGGGGCCGAGAGCCCGGGTTCCCCCGACCCGCTGTGAGACCCAAGGCAAGGCACACGGCTGTCCTCTCTGA... |
Task1_train_27492 | This alteration occurs within gene KLK2 (kallikrein related peptidase 2) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Acute myeloid leukemia | AATAGCCAGGTCTGGCTGGGTCGGCACAACCTGTTTGAGCCTGAAGACACAGGCCAGAGGGTCCCTGTCAGCCACAGCTTCCCACACCCGCTCTACAATATGAGCCTTCTGAAGCATCAAAGCCTTAGACCAGATGAAGACTCCAGCCATGACCTCATGCTGCTCCGCCTGTCAGAGCCTGCCAAGATCACAGATGTTGTGAAGGTCCTGGGCCTGCCCACCCAGGAGCCAGCACTGGGGACCACCTGCTACGCCTCAGGCTGGGGCAGCATCGAACCAGAGGAGTGTACGCCTGGGCCAGATGGTGTAGCTGGGAGCCC... | AATAGCCAGGTCTGGCTGGGTCGGCACAACCTGTTTGAGCCTGAAGACACAGGCCAGAGGGTCCCTGTCAGCCACAGCTTCCCACACCCGCTCTACAATATGAGCCTTCTGAAGCATCAAAGCCTTAGACCAGATGAAGACTCCAGCCATGACCTCATGCTGCTCCGCCTGTCAGAGCCTGCCAAGATCACAGATGTTGTGAAGGTCCTGGGCCTGCCCACCCAGGAGCCAGCACTGGGGACCACCTGCTACGCCTCAGGCTGGGGCAGCATCGAACCAGAGGAGTGTACGCCTGGGCCAGATGGTGTAGCTGGGAGCCC... |
Task1_train_27493 | The gene KLK4 (kallikrein related peptidase 4) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Amelogenesis imperfecta | GATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGATTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACTATGCCTGGCTAATTTTGGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGAGCCACCGCACCTGACCCCAATCTGTTTCTATACCTATTCCCCTCTCCCATCCCAGCAACCAGGCCACATTGAATAATTTTGCCTGTTCTAGAATTTCATATAAATATAATCATATA... | GATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGATTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACTATGCCTGGCTAATTTTGGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGCCCACCTTGTCCTCCCAAAGTGCTGGGATTACAGGTGAGCCACCGCACCTGACCCCAATCTGTTTCTATACCTATTCCCCTCTCCCATCCCAGCAACCAGGCCACATTGAATAATTTTGCCTGTTCTAGAATTTCATATAAATATAATCATATA... |
Task1_train_27494 | An alteration has been detected in ETFB (electron transfer flavoprotein subunit beta) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | CCCCCAGTTGGGTTCCCAAGGGCCCAGTGTGCCTCCACGTCTAGCATACTTCACCCCGAATTACAGCTGCCTTTGTCCTCATTGTCCCCCGCATCAATACAGAGGCTCCTCATGGGCAGGGACTGGATCCACAGGGCCTGGCACACAAAAGACTCAAGTAAATGTTGAATGAACCAAATAATGGGTCTCTAGGAAATAAGTTAACAGAGATAGATGTTGAGAGTCAGTTTTATTGCCATCTCTGGGAGGGGCTCAAATCCGCCCAATCTCCTTCAGCTTGGCCACCAGGTCCTCAGTGGTCTCCACCTTGACGCCGGCCG... | CCCCCAGTTGGGTTCCCAAGGGCCCAGTGTGCCTCCACGTCTAGCATACTTCACCCCGAATTACAGCTGCCTTTGTCCTCATTGTCCCCCGCATCAATACAGAGGCTCCTCATGGGCAGGGACTGGATCCACAGGGCCTGGCACACAAAAGACTCAAGTAAATGTTGAATGAACCAAATAATGGGTCTCTAGGAAATAAGTTAACAGAGATAGATGTTGAGAGTCAGTTTTATTGCCATCTCTGGGAGGGGCTCAAATCCGCCCAATCTCCTTCAGCTTGGCCACCAGGTCCTCAGTGGTCTCCACCTTGACGCCGGCCG... |
Task1_train_27495 | The following genetic variant occurs in LIM2 (lens intrinsic membrane protein 2) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Cataract 19 multiple types | AGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAACAAATAAGTAAAATAAAAAATGGGGTTGCCATTTCCTAAGATGGGGAAGACCATGGGAGGAACACATAGGCTGTGTGTGAGATCAGGAACTTATTTTTGGATATGTGAGATTGGAGATGCCTCTTCTTTTCAAGTGGGAATGTTGAGTAAGTAAGTTGAGCAGGTAAGTTGGAGTCC... | AGACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGGGCGAGACTCCATCTCAAAAAAACAAATAAGTAAAATAAAAAATGGGGTTGCCATTTCCTAAGATGGGGAAGACCATGGGAGGAACACATAGGCTGTGTGTGAGATCAGGAACTTATTTTTGGATATGTGAGATTGGAGATGCCTCTTCTTTTCAAGTGGGAATGTTGAGTAAGTAAGTTGAGCAGGTAAGTTGGAGTCC... |
Task1_train_27496 | This mutation occurs in LIM2 (lens intrinsic membrane protein 2) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Cataract 19 multiple types | AGTCCTGAGTCTGGAGTCATAATTATATCATTATTATTGCTAGAGTAAGCCCCTATAAATATGATTACTAGAATAAGTCTCGGCAAATATTTCTATTTAAATAGGCCTCAATAAATTATTAGAGAAATCTTCAATTGTCATTATTATTAGAGAAAACCTCTATAAATACAGTATTTTTATTTGAGGAGGCCCCAGTAAATATTATTTTAGGGAATAAGCCTCTATAAACATAACATTTATTAGCATAGCTGTAGTAAATAGTCTGATTAGAATCAGCCTTATGAAATAGTCTTATGATAGACATCAGTAAATCTCATGGC... | AGTCCTGAGTCTGGAGTCATAATTATATCATTATTATTGCTAGAGTAAGCCCCTATAAATATGATTACTAGAATAAGTCTCGGCAAATATTTCTATTTAAATAGGCCTCAATAAATTATTAGAGAAATCTTCAATTGTCATTATTATTAGAGAAAACCTCTATAAATACAGTATTTTTATTTGAGGAGGCCCCAGTAAATATTATTTTAGGGAATAAGCCTCTATAAACATAACATTTATTAGCATAGCTGTAGTAAATAGTCTGATTAGAATCAGCCTTATGAAATAGTCTTATGATAGACATCAGTAAATCTCATGGC... |
Task1_train_27497 | This genomic variant is located on Chromosome 19, within the LIM2 (lens intrinsic membrane protein 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cataract 19 multiple types | GGCCTGGAGTCTTCCTCCTGACCCAGTGCTGTGGGACTCATGTGGGACACCCTGTCATCTTCCACTCTATCTGCTGCCCACTCTGCCCCAGGCACTGACCTTCCCACCCCTTGCCCCCAGTACCTGCGAAGAACGTCATGAGCACTGCCACCCAGCCCAGGATGTAGGACCAGGAAAAGCGCCAGTCCCCAAAGCGGCGGCCCAGGAAGCTGACGGTGACTCCAGTGTAGATGGCCAAGGCCAACACGACGAAAAGGGCTGGGGAGAGAGGGCGGGAGGATGCAGGTGGGACTAAGGCTGGGTGTGATTTTGGAGGTGGG... | GGCCTGGAGTCTTCCTCCTGACCCAGTGCTGTGGGACTCATGTGGGACACCCTGTCATCTTCCACTCTATCTGCTGCCCACTCTGCCCCAGGCACTGACCTTCCCACCCCTTGCCCCCAGTACCTGCGAAGAACGTCATGAGCACTGCCACCCAGCCCAGGATGTAGGACCAGGAAAAGCGCCAGTCCCCAAAGCGGCGGCCCAGGAAGCTGACGGTGACTCCAGTGTAGATGGCCAAGGCCAACACGACGAAAAGGGCTGGGGAGAGAGGGCGGGAGGATGCAGGTGGGACTAAGGCTGGGTGTGATTTTGGAGGTGGG... |
Task1_train_27498 | The gene PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; PPP2R1A-related neurodevelopmental disorders | TTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATG... | TTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATG... |
Task1_train_27499 | This genomic variant is located on Chromosome 19, within the PPP2R1A (protein phosphatase 2 scaffold subunit Aalpha) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Inborn genetic diseases | TTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATG... | TTTTAGTAGAAACGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCTTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCGTTTTCTCTTCTTTAAAATCAGGACTTGCTTTATAGAATTCAGTGAGGAAGAACAAGCACCCCTGGTACAACACGGAGGTCCTGCCTAGTACACACAGTGAGTAGATGTTCTACACAGTGTCAGTGATGATCATTGCACTTTGAGAGGCTAAGAACTTTCTCCTCAGAAAGCAACGTGTGTAATTTTAAGGTTTATG... |
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