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_2600 | This variant impacts the gene HHAT (hedgehog acyltransferase) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Chondrodysplasia-pseudohermaphroditism syndrome | CCCAGAGTGATCACATGCCCTTCAAGTATTTTATGATAGTATTCACATGTATATATATTCACACACACACACAAATCAGATTTTTTCCTGACTCTTTATCAGGCACGTCCAAGAATGCTGAAAGTTTATTCCTAGCCCTTCCAGCAGGTATGACTGTAGTCTGATTTCCAAAAGTCTGAAGAACCTGTTTGATCACTTCTGAATGGGAACAAGACGCAGCGGTTCCTGGGGGTTTCTCCTTGTAGGATGTATGGCTTTCACATTTGAACCACCATCTGCCATCACCCAAACTGTATATTCAGAAAGTGGCTTATGTTTTT... | CCCAGAGTGATCACATGCCCTTCAAGTATTTTATGATAGTATTCACATGTATATATATTCACACACACACACAAATCAGATTTTTTCCTGACTCTTTATCAGGCACGTCCAAGAATGCTGAAAGTTTATTCCTAGCCCTTCCAGCAGGTATGACTGTAGTCTGATTTCCAAAAGTCTGAAGAACCTGTTTGATCACTTCTGAATGGGAACAAGACGCAGCGGTTCCTGGGGGTTTCTCCTTGTAGGATGTATGGCTTTCACATTTGAACCACCATCTGCCATCACCCAAACTGTATATTCAGAAAGTGGCTTATGTTTTT... |
Task1_train_2601 | This sequence change occurs on Chromosome 1, altering KCNH1 (potassium voltage-gated channel subfamily H member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | AGCTACATATTGTGTGCTCCAAAGTCAAGCAGGAATAAAGTTGGGGCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTAAAATAATACTATCTATGTCTCTATGTAGTTTGAATCTCAATTCTAACTTCAGAGTAACTTAATCTCCTCCAGCCTCAGTTTTCTAATAAATCATTTGTAAAAGATAAAACACATGTCTGCAATCTCTACCAGTACCTGGCAACTTAATGGGCTAGCATACTACGTTAATTATCATCAGAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGGCAGATCAC... | AGCTACATATTGTGTGCTCCAAAGTCAAGCAGGAATAAAGTTGGGGCTTTTCTTTTTCTTTCTTTCTTTCTTTTTTAAAATAATACTATCTATGTCTCTATGTAGTTTGAATCTCAATTCTAACTTCAGAGTAACTTAATCTCCTCCAGCCTCAGTTTTCTAATAAATCATTTGTAAAAGATAAAACACATGTCTGCAATCTCTACCAGTACCTGGCAACTTAATGGGCTAGCATACTACGTTAATTATCATCAGAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGGCAGATCAC... |
Task1_train_2602 | Here’s a variant in KCNH1 (potassium voltage-gated channel subfamily H member 1) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Temple-Baraitser syndrome | TCGGGCCTCTTGTGCTTACCCCCTTCAAGAAGGATAACAGGGTTGCTGTGGAGGCTAAATGAGACACTAGTGCAAGACCAGGCATGTAGAAGAAGCACAACAAATATCTGTTCTTAATGCATGTTCAAGAAATGGTAGCTGAGGTTGTAGTAGTGGTGTTATGGTTATCACGGCAAATAGTCAGCAAAACCAAAGTAATGTTCAAGTTGAGGATTAAATTCAGTTCAATGTTTCCTTTTAAACTGTCAACTCTCAACTGACAATTCTAATGAAGGAAGACTAGGAACATAAGTAGCTGATCCCAAAGCCAGTTGAATTTG... | TCGGGCCTCTTGTGCTTACCCCCTTCAAGAAGGATAACAGGGTTGCTGTGGAGGCTAAATGAGACACTAGTGCAAGACCAGGCATGTAGAAGAAGCACAACAAATATCTGTTCTTAATGCATGTTCAAGAAATGGTAGCTGAGGTTGTAGTAGTGGTGTTATGGTTATCACGGCAAATAGTCAGCAAAACCAAAGTAATGTTCAAGTTGAGGATTAAATTCAGTTCAATGTTTCCTTTTAAACTGTCAACTCTCAACTGACAATTCTAATGAAGGAAGACTAGGAACATAAGTAGCTGATCCCAAAGCCAGTTGAATTTG... |
Task1_train_2603 | Here is a genetic alteration in KCNH1 (potassium voltage-gated channel subfamily H member 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Temple-Baraitser syndrome | AGGGTTGCTGTGGAGGCTAAATGAGACACTAGTGCAAGACCAGGCATGTAGAAGAAGCACAACAAATATCTGTTCTTAATGCATGTTCAAGAAATGGTAGCTGAGGTTGTAGTAGTGGTGTTATGGTTATCACGGCAAATAGTCAGCAAAACCAAAGTAATGTTCAAGTTGAGGATTAAATTCAGTTCAATGTTTCCTTTTAAACTGTCAACTCTCAACTGACAATTCTAATGAAGGAAGACTAGGAACATAAGTAGCTGATCCCAAAGCCAGTTGAATTTGGTTTGCAATGTGTCATTATGTATTTTTACGATCATGTT... | AGGGTTGCTGTGGAGGCTAAATGAGACACTAGTGCAAGACCAGGCATGTAGAAGAAGCACAACAAATATCTGTTCTTAATGCATGTTCAAGAAATGGTAGCTGAGGTTGTAGTAGTGGTGTTATGGTTATCACGGCAAATAGTCAGCAAAACCAAAGTAATGTTCAAGTTGAGGATTAAATTCAGTTCAATGTTTCCTTTTAAACTGTCAACTCTCAACTGACAATTCTAATGAAGGAAGACTAGGAACATAAGTAGCTGATCCCAAAGCCAGTTGAATTTGGTTTGCAATGTGTCATTATGTATTTTTACGATCATGTT... |
Task1_train_2604 | An alteration has been detected in KCNH1 (potassium voltage-gated channel subfamily H member 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Temple-Baraitser syndrome | CTAGTGCAAGACCAGGCATGTAGAAGAAGCACAACAAATATCTGTTCTTAATGCATGTTCAAGAAATGGTAGCTGAGGTTGTAGTAGTGGTGTTATGGTTATCACGGCAAATAGTCAGCAAAACCAAAGTAATGTTCAAGTTGAGGATTAAATTCAGTTCAATGTTTCCTTTTAAACTGTCAACTCTCAACTGACAATTCTAATGAAGGAAGACTAGGAACATAAGTAGCTGATCCCAAAGCCAGTTGAATTTGGTTTGCAATGTGTCATTATGTATTTTTACGATCATGTTATCTTTCTGTTTTCCTCATTCTAACGGT... | CTAGTGCAAGACCAGGCATGTAGAAGAAGCACAACAAATATCTGTTCTTAATGCATGTTCAAGAAATGGTAGCTGAGGTTGTAGTAGTGGTGTTATGGTTATCACGGCAAATAGTCAGCAAAACCAAAGTAATGTTCAAGTTGAGGATTAAATTCAGTTCAATGTTTCCTTTTAAACTGTCAACTCTCAACTGACAATTCTAATGAAGGAAGACTAGGAACATAAGTAGCTGATCCCAAAGCCAGTTGAATTTGGTTTGCAATGTGTCATTATGTATTTTTACGATCATGTTATCTTTCTGTTTTCCTCATTCTAACGGT... |
Task1_train_2605 | This mutation occurs in KCNH1 (potassium voltage-gated channel subfamily H member 1) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Zimmermann-Laband syndrome 1 | CTAGTGCAAGACCAGGCATGTAGAAGAAGCACAACAAATATCTGTTCTTAATGCATGTTCAAGAAATGGTAGCTGAGGTTGTAGTAGTGGTGTTATGGTTATCACGGCAAATAGTCAGCAAAACCAAAGTAATGTTCAAGTTGAGGATTAAATTCAGTTCAATGTTTCCTTTTAAACTGTCAACTCTCAACTGACAATTCTAATGAAGGAAGACTAGGAACATAAGTAGCTGATCCCAAAGCCAGTTGAATTTGGTTTGCAATGTGTCATTATGTATTTTTACGATCATGTTATCTTTCTGTTTTCCTCATTCTAACGGT... | CTAGTGCAAGACCAGGCATGTAGAAGAAGCACAACAAATATCTGTTCTTAATGCATGTTCAAGAAATGGTAGCTGAGGTTGTAGTAGTGGTGTTATGGTTATCACGGCAAATAGTCAGCAAAACCAAAGTAATGTTCAAGTTGAGGATTAAATTCAGTTCAATGTTTCCTTTTAAACTGTCAACTCTCAACTGACAATTCTAATGAAGGAAGACTAGGAACATAAGTAGCTGATCCCAAAGCCAGTTGAATTTGGTTTGCAATGTGTCATTATGTATTTTTACGATCATGTTATCTTTCTGTTTTCCTCATTCTAACGGT... |
Task1_train_2606 | Here is a genetic alteration in KCNH1 (potassium voltage-gated channel subfamily H member 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | GCATGTAGAAGAAGCACAACAAATATCTGTTCTTAATGCATGTTCAAGAAATGGTAGCTGAGGTTGTAGTAGTGGTGTTATGGTTATCACGGCAAATAGTCAGCAAAACCAAAGTAATGTTCAAGTTGAGGATTAAATTCAGTTCAATGTTTCCTTTTAAACTGTCAACTCTCAACTGACAATTCTAATGAAGGAAGACTAGGAACATAAGTAGCTGATCCCAAAGCCAGTTGAATTTGGTTTGCAATGTGTCATTATGTATTTTTACGATCATGTTATCTTTCTGTTTTCCTCATTCTAACGGTCGAAAGAATCAGTAT... | GCATGTAGAAGAAGCACAACAAATATCTGTTCTTAATGCATGTTCAAGAAATGGTAGCTGAGGTTGTAGTAGTGGTGTTATGGTTATCACGGCAAATAGTCAGCAAAACCAAAGTAATGTTCAAGTTGAGGATTAAATTCAGTTCAATGTTTCCTTTTAAACTGTCAACTCTCAACTGACAATTCTAATGAAGGAAGACTAGGAACATAAGTAGCTGATCCCAAAGCCAGTTGAATTTGGTTTGCAATGTGTCATTATGTATTTTTACGATCATGTTATCTTTCTGTTTTCCTCATTCTAACGGTCGAAAGAATCAGTAT... |
Task1_train_2607 | Given a variant located on Chromosome 1 and affecting KCNH1 (potassium voltage-gated channel subfamily H member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | TTTCGACTGACAAAGTGGCTCATCTCCCCCTCCCTCTAAGAGAAGGAAATCAAATCATGTCCTGAGCACAGTGCATCTGGTTGTTTATCGGGTGCCCCAAGGCTCACAAAAATGCTGTAAGTAAGCACTGCCTAGGAAATACGTGCAGTTAAGGCTGAAACAGTTCTAGAAGAGAAAAGATCTTAAATCCTTTTCTGTGACATGAGAAAGCACCTCAAATTCTAATTAAGATGAAGCAATTAGCCACCCACAGATCCTTAACACTGCTTCCCATGGCCAGGCAATTATCTCTATTAAAACACATTTTAAAGTAAGGAACA... | TTTCGACTGACAAAGTGGCTCATCTCCCCCTCCCTCTAAGAGAAGGAAATCAAATCATGTCCTGAGCACAGTGCATCTGGTTGTTTATCGGGTGCCCCAAGGCTCACAAAAATGCTGTAAGTAAGCACTGCCTAGGAAATACGTGCAGTTAAGGCTGAAACAGTTCTAGAAGAGAAAAGATCTTAAATCCTTTTCTGTGACATGAGAAAGCACCTCAAATTCTAATTAAGATGAAGCAATTAGCCACCCACAGATCCTTAACACTGCTTCCCATGGCCAGGCAATTATCTCTATTAAAACACATTTTAAAGTAAGGAACA... |
Task1_train_2608 | A change on Chromosome 1 affects gene KCNH1 (potassium voltage-gated channel subfamily H member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Zimmermann-Laband syndrome 1 | GAAGCAATTAGCCACCCACAGATCCTTAACACTGCTTCCCATGGCCAGGCAATTATCTCTATTAAAACACATTTTAAAGTAAGGAACAAACCCAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAG... | GAAGCAATTAGCCACCCACAGATCCTTAACACTGCTTCCCATGGCCAGGCAATTATCTCTATTAAAACACATTTTAAAGTAAGGAACAAACCCAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAG... |
Task1_train_2609 | This variant affects gene KCNH1 (potassium voltage-gated channel subfamily H member 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Zimmermann-Laband syndrome 1 | CACCCACAGATCCTTAACACTGCTTCCCATGGCCAGGCAATTATCTCTATTAAAACACATTTTAAAGTAAGGAACAAACCCAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAGCAAGGCAAGCTG... | CACCCACAGATCCTTAACACTGCTTCCCATGGCCAGGCAATTATCTCTATTAAAACACATTTTAAAGTAAGGAACAAACCCAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAGCAAGGCAAGCTG... |
Task1_train_2610 | The variant affects gene KCNH1 (potassium voltage-gated channel subfamily H member 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Zimmermann-Laband syndrome 1 | CTTAACACTGCTTCCCATGGCCAGGCAATTATCTCTATTAAAACACATTTTAAAGTAAGGAACAAACCCAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAGCAAGGCAAGCTGAAGCCTCAGGTT... | CTTAACACTGCTTCCCATGGCCAGGCAATTATCTCTATTAAAACACATTTTAAAGTAAGGAACAAACCCAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAGCAAGGCAAGCTGAAGCCTCAGGTT... |
Task1_train_2611 | The variant affects gene KCNH1 (potassium voltage-gated channel subfamily H member 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Zimmermann-Laband syndrome 1 | CTTAACACTGCTTCCCATGGCCAGGCAATTATCTCTATTAAAACACATTTTAAAGTAAGGAACAAACCCAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAGCAAGGCAAGCTGAAGCCTCAGGTT... | CTTAACACTGCTTCCCATGGCCAGGCAATTATCTCTATTAAAACACATTTTAAAGTAAGGAACAAACCCAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAGCAAGGCAAGCTGAAGCCTCAGGTT... |
Task1_train_2612 | Given this variant in gene KCNH1 (potassium voltage-gated channel subfamily H member 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | CATTTTAAAGTAAGGAACAAACCCAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAGCAAGGCAAGCTGAAGCCTCAGGTTTCCCTGGTCAGTATAACAATTTGTCAACTCCACCCTACATCAAGC... | CATTTTAAAGTAAGGAACAAACCCAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAGCAAGGCAAGCTGAAGCCTCAGGTTTCCCTGGTCAGTATAACAATTTGTCAACTCCACCCTACATCAAGC... |
Task1_train_2613 | This variant affects the gene KCNH1 (potassium voltage-gated channel subfamily H member 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Zimmermann-Laband syndrome 1 | CAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAGCAAGGCAAGCTGAAGCCTCAGGTTTCCCTGGTCAGTATAACAATTTGTCAACTCCACCCTACATCAAGCAAAACAGTTTCTACCTACTGAAA... | CAAAGCTCCATAGGCACACACTTCCCACAAATCAATTACCCCCTTAGACACATTCCTTAAATACTCTCAGGAAAACTCTGCCTGCAGAGAGGGCTTTTATGAAAGGACTCCATCAGACATGATGAGACTGTTGCAAAAAAGGAGGTACCAAGCAGCAAATGTGACAATTTGAGGTAACAAAATCCACTCACAAAGCGGGATGCTGAATCTCTGGTCAGTTGGACAAAGCAAGGCAAGCTGAAGCCTCAGGTTTCCCTGGTCAGTATAACAATTTGTCAACTCCACCCTACATCAAGCAAAACAGTTTCTACCTACTGAAA... |
Task1_train_2614 | An alteration has been detected in KCNH1 (potassium voltage-gated channel subfamily H member 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Temple-Baraitser syndrome | CTGAATCTAGAGCATCTGAGCATCCAAATTCTCTCCTTCCAGCTCTACATTGGCAGCATTTTGTAGGAAGAGCTACCCTTCACTGGAAAGAGAAGTGGTAATAGTTCTGTTTTCCCAGAGAAAAGGCTGCTGTCCCACCAACCGCTGGTACTGATCTGAAGGCAGAAAGGCATCATTATGCCACTAGTAAAACATGGAGTCACTGGCCAGGTCTTGATATCCCGGCAGGGAGCAAGCTGTTCCTTTCAACGTTCTCAAGCCTGAGTCCTATGAGCCGTTTAGTTCTGAAATGTGTCTTGAGCCTCAACTTGGCTTCCTAG... | CTGAATCTAGAGCATCTGAGCATCCAAATTCTCTCCTTCCAGCTCTACATTGGCAGCATTTTGTAGGAAGAGCTACCCTTCACTGGAAAGAGAAGTGGTAATAGTTCTGTTTTCCCAGAGAAAAGGCTGCTGTCCCACCAACCGCTGGTACTGATCTGAAGGCAGAAAGGCATCATTATGCCACTAGTAAAACATGGAGTCACTGGCCAGGTCTTGATATCCCGGCAGGGAGCAAGCTGTTCCTTTCAACGTTCTCAAGCCTGAGTCCTATGAGCCGTTTAGTTCTGAAATGTGTCTTGAGCCTCAACTTGGCTTCCTAG... |
Task1_train_2615 | A mutation in FLVCR1 (FLVCR choline and heme transporter 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Inborn genetic diseases | TAGGGTTCTAGATATCAGCACATTTTAAGATTAAATGCATGGTAAGAACTTTTGTACTATATACACCTAGTTTGAACTTAAATTTAATAACAAACTCTTTGGAGTCTCTCTCTCTCTCTTTTTTTTTTTTTCCCAAACATAGCTTCCCAAGGAGCAGAAGGGCTGAATTTTCTCTAGTTCCAGGAAGACCGCAAGGCTACTGTGCTCTGGATGTCTCGTTTTTATTTTTTTATTTTTTTATTCTCCAGATCTCAAGACGGTGTCTGGCACATACCATTCAATACAAGTTTGGTACCTGGAACCCACTGAATATGCATGTC... | TAGGGTTCTAGATATCAGCACATTTTAAGATTAAATGCATGGTAAGAACTTTTGTACTATATACACCTAGTTTGAACTTAAATTTAATAACAAACTCTTTGGAGTCTCTCTCTCTCTCTTTTTTTTTTTTTCCCAAACATAGCTTCCCAAGGAGCAGAAGGGCTGAATTTTCTCTAGTTCCAGGAAGACCGCAAGGCTACTGTGCTCTGGATGTCTCGTTTTTATTTTTTTATTTTTTTATTCTCCAGATCTCAAGACGGTGTCTGGCACATACCATTCAATACAAGTTTGGTACCTGGAACCCACTGAATATGCATGTC... |
Task1_train_2616 | The variant affects gene FLVCR1 (FLVCR choline and heme transporter 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | GGTCGAGCAACCGGATCTGCTCCATCATAGCCCGTCTCAGTCGCTTCATTCAAGTCAGCGGGGTGAGGTTGAGGGGATTCCAACTTCACAAGGGCAGATTTCTCATGGACTCTCTTTCTCTGGTTGTACTGGAACACTTTCTGGCGTTATTCCTCTGCTGGGACAGCATGAACTTATGAAACGTGGTCCTGTCTGCCCTAAAGCCAGGGTCTCACCGACAAGGACAGCGATGCTGGGGCGAGAAATAAAGTTCGTCCTGGGCCTGCGTACGGTACAGCGCCCTTGGGAAGCCCTTGTGGAGTTAAGGGTGATGCCCACTT... | GGTCGAGCAACCGGATCTGCTCCATCATAGCCCGTCTCAGTCGCTTCATTCAAGTCAGCGGGGTGAGGTTGAGGGGATTCCAACTTCACAAGGGCAGATTTCTCATGGACTCTCTTTCTCTGGTTGTACTGGAACACTTTCTGGCGTTATTCCTCTGCTGGGACAGCATGAACTTATGAAACGTGGTCCTGTCTGCCCTAAAGCCAGGGTCTCACCGACAAGGACAGCGATGCTGGGGCGAGAAATAAAGTTCGTCCTGGGCCTGCGTACGGTACAGCGCCCTTGGGAAGCCCTTGTGGAGTTAAGGGTGATGCCCACTT... |
Task1_train_2617 | Consider a variant on Chromosome 1 in gene FLVCR1 (FLVCR choline and heme transporter 1). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CAGTTCCAAGCTGCCCACTTGTTAGAGGAGCCACTGCTTACCAGGCATCTGGTTTAATAAAACATGGCTAGAGCGACTGCATGTTAAAGTGAGTAACTAGGCACTCACAAGGCACCTATAAGGTTAATGCTAAAGGTCTGAAAATAGCCGCATTCTAAGCTGACCAACAATTATAATTACACAATATTTATGGCCATACAGGACATCTCCCACCAAGTCTGCGGAATTGTCCAGATGTCCTGAGTTTTTTTTTTTTTTTTAGACAAGGTCTCACTTTGTCGCCCAGGCTAGGCTGGAGGGCAGTGTGGTGCGATCTCAGC... | CAGTTCCAAGCTGCCCACTTGTTAGAGGAGCCACTGCTTACCAGGCATCTGGTTTAATAAAACATGGCTAGAGCGACTGCATGTTAAAGTGAGTAACTAGGCACTCACAAGGCACCTATAAGGTTAATGCTAAAGGTCTGAAAATAGCCGCATTCTAAGCTGACCAACAATTATAATTACACAATATTTATGGCCATACAGGACATCTCCCACCAAGTCTGCGGAATTGTCCAGATGTCCTGAGTTTTTTTTTTTTTTTTAGACAAGGTCTCACTTTGTCGCCCAGGCTAGGCTGGAGGGCAGTGTGGTGCGATCTCAGC... |
Task1_train_2618 | An alteration has been detected in FLVCR1 (FLVCR choline and heme transporter 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Posterior column ataxia-retinitis pigmentosa syndrome | TGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAACCTCCCCAGTAGCTGGGACTACAGGCGCACACCACTGCGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTCACGAACTCCTTGGCCAGACTGGTGTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACACGCGTGAGCCACTGCGCCCAGCCAAGAATTTCTTAATG... | TGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGATTCAAGCAATTCTCCTGCCTCAACCTCCCCAGTAGCTGGGACTACAGGCGCACACCACTGCGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGACTGGTCACGAACTCCTTGGCCAGACTGGTGTCGAACTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACACGCGTGAGCCACTGCGCCCAGCCAAGAATTTCTTAATG... |
Task1_train_2619 | Mutation context: Chromosome 1, Gene FLVCR1 (FLVCR choline and heme transporter 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Posterior column ataxia-retinitis pigmentosa syndrome | CCTTAGCTTCATTATTTTAAAATGATAGCTTAGAGTGAAACCTACTTGATATATAGATGAAGGGAGCATATGTAAAGGATTATATTTCTTAAGTCTTTCATCCGTTATACATTTAGAAAACTTGATAGGCATAGATGTGTGTTCTTTGCCACTGTGGCTTCCTTCTCAGGGTAACTGCCATTCATTCACCAAACTCCTGTTGTGTGCATCTTTCTTAGATGAAAATTATGGCTGGCATTATGTGATCCCTGTTCTTAAGATGTTTGTGGTCTAAATGGAGCAAATAAGGCATTCACATGTGAAAAGTTAAATAATATAAC... | CCTTAGCTTCATTATTTTAAAATGATAGCTTAGAGTGAAACCTACTTGATATATAGATGAAGGGAGCATATGTAAAGGATTATATTTCTTAAGTCTTTCATCCGTTATACATTTAGAAAACTTGATAGGCATAGATGTGTGTTCTTTGCCACTGTGGCTTCCTTCTCAGGGTAACTGCCATTCATTCACCAAACTCCTGTTGTGTGCATCTTTCTTAGATGAAAATTATGGCTGGCATTATGTGATCCCTGTTCTTAAGATGTTTGTGGTCTAAATGGAGCAAATAAGGCATTCACATGTGAAAAGTTAAATAATATAAC... |
Task1_train_2620 | This alteration occurs within gene FLVCR1 (FLVCR choline and heme transporter 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TGGGAATAACAAGAGAACTGGAATTAGAAGTGGAATATGAAGAGGTAACTGAATTGCTGCATCTTATGGTAAAACCTGAAGAAATGAAGGGTTGCTTCTTTTTTTTTGGGGGGGGGTGCCGGAATGTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACAGCAAGCTCTGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTTTTGA... | TGGGAATAACAAGAGAACTGGAATTAGAAGTGGAATATGAAGAGGTAACTGAATTGCTGCATCTTATGGTAAAACCTGAAGAAATGAAGGGTTGCTTCTTTTTTTTTGGGGGGGGGTGCCGGAATGTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACAGCAAGCTCTGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTTTTGA... |
Task1_train_2621 | Consider a variant on Chromosome 1 in gene USH2A (usherin). Determine its clinical classification and disease relevance. | Pathogenic; not provided | CTGCCTCCAGGAACAACACACTTCCCATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAA... | CTGCCTCCAGGAACAACACACTTCCCATTCACCAAGGAAACTAGACTGGCAGGGCTTAGAAGGCGAGCAACCTTGGTTTTCCGGCATCACTCAACACGTGGTTCTGAGCCCTGTGTCAGAATCACTGGACAGGACTTATTTAAAGAGCAGATTCTGAGCCTCCTTGAGTCTGAATCTCTGCCAGAGGCCCGGGAAACTACAATAAACAAGCACATGAGGTGATTCCTATGCGTACTTAACTTGGCAAACCATTGCAAAGAAAAAGTCCCAGGCCAGAAGTCAATAGAAAATCTGTGTTGGTGTTCTCATCCCAGTAACAA... |
Task1_train_2622 | This is a variant in USH2A (usherin), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATC... | CGTCCCGATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATC... |
Task1_train_2623 | Consider this mutation in USH2A (usherin) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Usher syndrome type 2A | GATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAA... | GATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAA... |
Task1_train_2624 | This is a variant in USH2A (usherin), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | ATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAA... | ATTTGTGGAGAGGACAGTCCTGAGGGTGGGGCAGGATGGGTTCTCAGTTCAGCTGTCGGTCCTTTGCTGCAACAGTTGAAGCAGGTGCAGGCCTCTACTCCAATAGAGTAGTTAGTGAAGGCTTGAAGGCCATGGAGAGTCTGCTGGGTGGCCATGCCTTCGGATAGCTGTGGAAGGAAGGAAGGCTAGATAAAGGCAGTGTCAAACATTAAAGGTGTTTGATGAATGTTATCCAAGATCCCACCTCCTACAAATGGAGTACCATGCCAGGCACTCTGGGAGACACAACATGGCATTTAGCATGACATTTATCCTCAAAA... |
Task1_train_2625 | The following genetic variant occurs in USH2A (usherin) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | TGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATG... | TGAGACTTCCACAGATCATGTGACCAGAATTTAACCCAATGACACAACACAATACCAGAGAAAGTTTGTGTTTCTTATATATGGGTCATTAAGTTGCGTTTAATTAGCGGCTGAAGATTTTATGCTGATTTCATCCAGCTCTCTCACGAAGGTACCATTTTTATTTGTAAGGGAGACTAGATAACTGACAGCTTGATAACGTGACACTTCTCAATAAAGGTAATGAGAAAAGAACAAAAGGGCAGGCACGTAGGTTCTGGCTGTTTCTAACAGTGTTACGTTTCCGATGGTGGCATCGGTAAGTATTTTGTTCCTTTATG... |
Task1_train_2626 | Located on Chromosome 1, this mutation impacts USH2A (usherin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinitis pigmentosa | TTTTGCCTCATAGCTGGTCTCTGCTACTTGAAAAGGTCTATTTACATAGCAGGGACTTCTCCTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATT... | TTTTGCCTCATAGCTGGTCTCTGCTACTTGAAAAGGTCTATTTACATAGCAGGGACTTCTCCTTTCCAACAAAATGAGTTTTTGTGAGTATTTAGTGCCTATGGCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATT... |
Task1_train_2627 | Here is a mutation in USH2A (usherin) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | CCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATA... | CCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATA... |
Task1_train_2628 | This mutation is located in gene USH2A (usherin) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Usher syndrome | ACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAAT... | ACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAAT... |
Task1_train_2629 | A genomic change on Chromosome 1 affects USH2A (usherin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Usher syndrome type 2A | ACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAAT... | ACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAAT... |
Task1_train_2630 | This mutation occurs in USH2A (usherin) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinitis pigmentosa 39 | ACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAAT... | ACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAAT... |
Task1_train_2631 | The gene USH2A (usherin) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinitis pigmentosa 39 | ACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAAT... | ACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAAT... |
Task1_train_2632 | A genomic change on Chromosome 1 affects USH2A (usherin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Usher syndrome type 2A | ACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAAT... | ACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAAT... |
Task1_train_2633 | This variant impacts the gene USH2A (usherin) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAA... | TGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAA... |
Task1_train_2634 | The gene USH2A (usherin) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Usher syndrome type 2A | AAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCA... | AAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCA... |
Task1_train_2635 | A variant was discovered in gene USH2A (usherin), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinitis pigmentosa 39 | AAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCA... | AAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCA... |
Task1_train_2636 | This sequence variant lies in USH2A (usherin) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; USH2A-related disorder | TTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTT... | TTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTT... |
Task1_train_2637 | A variant was discovered in gene USH2A (usherin), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not specified | GGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTATAGGAGGATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGAAATCAACACTCTTTCAGCCTTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATT... | GGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTATAGGAGGATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGAAATCAACACTCTTTCAGCCTTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATT... |
Task1_train_2638 | A mutation found in USH2A (usherin) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTATAGGAGGATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGAAATCAACACTCTTTCAGCCTTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATTTTAAGCATAAAATGTCTCTTATTACCCTTCTCTCTGGGGATGTAAGTTACTTAAAATGTGATGGGGAAAACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTTTTGT... | TAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTATAGGAGGATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGAAATCAACACTCTTTCAGCCTTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATTTTAAGCATAAAATGTCTCTTATTACCCTTCTCTCTGGGGATGTAAGTTACTTAAAATGTGATGGGGAAAACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTTTTGT... |
Task1_train_2639 | Here is a mutation in USH2A (usherin) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | TTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATTTTAAGCATAAAATGTCTCTTATTACCCTTCTCTCTGGGGATGTAAGTTACTTAAAATGTGATGGGGAAAACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAAC... | TTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATTTTAAGCATAAAATGTCTCTTATTACCCTTCTCTCTGGGGATGTAAGTTACTTAAAATGTGATGGGGAAAACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAAC... |
Task1_train_2640 | A variant affecting Chromosome 1, within the gene USH2A (usherin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Retinitis pigmentosa | AACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTA... | AACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTA... |
Task1_train_2641 | Gene USH2A (usherin) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Retinitis pigmentosa 39 | CATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTATCGGGGCTGTCAGAACTGTCCAGGGGCCTGCGTATTTCCAGGGGGACTAGCCTCATCTCTGT... | CATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTATCGGGGCTGTCAGAACTGTCCAGGGGCCTGCGTATTTCCAGGGGGACTAGCCTCATCTCTGT... |
Task1_train_2642 | A mutation on Chromosome 1 affecting USH2A (usherin) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | ACCCACCTTCAATTCTACCTTGAAATCTTTAATAGTTCTCAAACTCCATTGGTCCTTATATAGTCCATTTTCCACAGGGTAGCCAGAGTGATTTTTAAAAACGTAAATTTGATCATGCTATTCCTTTGCTTAAAGCCTTCAGTAATTTTTCATTGCACTTGGAACAAATTCTAAACTTTACCACAGCCTACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTT... | ACCCACCTTCAATTCTACCTTGAAATCTTTAATAGTTCTCAAACTCCATTGGTCCTTATATAGTCCATTTTCCACAGGGTAGCCAGAGTGATTTTTAAAAACGTAAATTTGATCATGCTATTCCTTTGCTTAAAGCCTTCAGTAATTTTTCATTGCACTTGGAACAAATTCTAAACTTTACCACAGCCTACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTT... |
Task1_train_2643 | This sequence variant lies in USH2A (usherin) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not specified | TACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAATAGCCTGAGCAGGCATAATTACATTATTCTATTTAATTTTCTTTATAGCATTCATCGC... | TACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAATAGCCTGAGCAGGCATAATTACATTATTCTATTTAATTTTCTTTATAGCATTCATCGC... |
Task1_train_2644 | Located on Chromosome 1, this mutation impacts USH2A (usherin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinitis pigmentosa 39 | ACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAATAGCCTGAGCAGGCATAATTACATTATTCTATTTAATTTTCTTTATAGCATTCATCGCT... | ACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAATAGCCTGAGCAGGCATAATTACATTATTCTATTTAATTTTCTTTATAGCATTCATCGCT... |
Task1_train_2645 | This mutation occurs in USH2A (usherin) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not specified | ACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAATAGCCTGAGCAGGCATAATTACATTATTCTATTTAATTTTCTTTATAGCATTCATCGCT... | ACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAATAGCCTGAGCAGGCATAATTACATTATTCTATTTAATTTTCTTTATAGCATTCATCGCT... |
Task1_train_2646 | This sequence variant lies in USH2A (usherin) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Retinitis pigmentosa 39 | CCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCACTGTAATTTAAATATTTTGATAAATGTTA... | CCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCACTGTAATTTAAATATTTTGATAAATGTTA... |
Task1_train_2647 | This sequence change occurs on Chromosome 1, altering USH2A (usherin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinitis pigmentosa 39 | CCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCACTGTAATTTAAATATTTTGATAAATGTTA... | CCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCACTGTAATTTAAATATTTTGATAAATGTTA... |
Task1_train_2648 | The variant affects gene USH2A (usherin), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Usher syndrome type 2A | CCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCACTGTAATTTAAATATTTTGATAAATGTTA... | CCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCACTGTAATTTAAATATTTTGATAAATGTTA... |
Task1_train_2649 | Here is a mutation in USH2A (usherin) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinitis pigmentosa | TTTACAGTATTTTTCATTGAAGCGGGCTTTCTGCATTATATTTCCTGTTTTCCCTCTCTATAGCTGCCATGGAATAGGCACTGTAATCACGAGCTTTATTTACAAAACCAACAGAGTGAAGCCACGTCCTGGTCTATAACAGATACTCTATTTCCCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAA... | TTTACAGTATTTTTCATTGAAGCGGGCTTTCTGCATTATATTTCCTGTTTTCCCTCTCTATAGCTGCCATGGAATAGGCACTGTAATCACGAGCTTTATTTACAAAACCAACAGAGTGAAGCCACGTCCTGGTCTATAACAGATACTCTATTTCCCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAA... |
Task1_train_2650 | The following genetic variant occurs in USH2A (usherin) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Usher syndrome type 2A | TTTACAGTATTTTTCATTGAAGCGGGCTTTCTGCATTATATTTCCTGTTTTCCCTCTCTATAGCTGCCATGGAATAGGCACTGTAATCACGAGCTTTATTTACAAAACCAACAGAGTGAAGCCACGTCCTGGTCTATAACAGATACTCTATTTCCCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAA... | TTTACAGTATTTTTCATTGAAGCGGGCTTTCTGCATTATATTTCCTGTTTTCCCTCTCTATAGCTGCCATGGAATAGGCACTGTAATCACGAGCTTTATTTACAAAACCAACAGAGTGAAGCCACGTCCTGGTCTATAACAGATACTCTATTTCCCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAA... |
Task1_train_2651 | The gene USH2A (usherin) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinitis pigmentosa | ATTTCCTGTTTTCCCTCTCTATAGCTGCCATGGAATAGGCACTGTAATCACGAGCTTTATTTACAAAACCAACAGAGTGAAGCCACGTCCTGGTCTATAACAGATACTCTATTTCCCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAATCAGAAATATTATTCTTCAAATTAATGTTTGCTGAGAAG... | ATTTCCTGTTTTCCCTCTCTATAGCTGCCATGGAATAGGCACTGTAATCACGAGCTTTATTTACAAAACCAACAGAGTGAAGCCACGTCCTGGTCTATAACAGATACTCTATTTCCCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAATCAGAAATATTATTCTTCAAATTAATGTTTGCTGAGAAG... |
Task1_train_2652 | The gene USH2A (usherin) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinitis pigmentosa | TGCTTACCTCAAAATATAATGTTGCACTAAGTCACAAGGCAACCCAATAATGACTAAATGGCTCAATGAAGGCTATTCAGCTTACAGAGGAAAAATGCAGCTACCATAAGTGGTCACAACCCAAGGTACATGGGTGAAGTGAACAACTGTCTTTCCAAACTCCCCATTCACTGATTTAATATAAAAGGAATGGTATAATGTCAATGATCCAATCTAAGGAGTCCCATGGAAATGAATGTTCAAGGTAATTCTGACCTATATGACTTGCATTGGATATATAGAAGAGTAAGCCGGGCGTGGTGGCTCATGCCTGTAATCCC... | TGCTTACCTCAAAATATAATGTTGCACTAAGTCACAAGGCAACCCAATAATGACTAAATGGCTCAATGAAGGCTATTCAGCTTACAGAGGAAAAATGCAGCTACCATAAGTGGTCACAACCCAAGGTACATGGGTGAAGTGAACAACTGTCTTTCCAAACTCCCCATTCACTGATTTAATATAAAAGGAATGGTATAATGTCAATGATCCAATCTAAGGAGTCCCATGGAAATGAATGTTCAAGGTAATTCTGACCTATATGACTTGCATTGGATATATAGAAGAGTAAGCCGGGCGTGGTGGCTCATGCCTGTAATCCC... |
Task1_train_2653 | An alteration has been detected in USH2A (usherin) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | GTGCCTATGCAAAAAGCATGGAATTGTTCTAGGACTAATAACTTTTGACTGGGCCAATCAGCTGCCATCTATCTATCTAAATGGTGGCTCACTCAGAAAGGTTTCCAGAAGTCTGTTGAACAAAATGTTGCATTCTTGCACTGTGGCTGAGCAGTGTGGCTGAATGTTTCATTTGGATGGCTCTTGCACAGTGTGCAAAGATGTTGCTCTTCTAAAGTTTTAAGCATATGAAAAGAATCAGAGCTACTCTGTGTAAGTTTGTTTCCTCCTGGGCTTCCTCTGTCAAGGCTGGCTTCTATGAAATGTCCCTTTCTTTATTT... | GTGCCTATGCAAAAAGCATGGAATTGTTCTAGGACTAATAACTTTTGACTGGGCCAATCAGCTGCCATCTATCTATCTAAATGGTGGCTCACTCAGAAAGGTTTCCAGAAGTCTGTTGAACAAAATGTTGCATTCTTGCACTGTGGCTGAGCAGTGTGGCTGAATGTTTCATTTGGATGGCTCTTGCACAGTGTGCAAAGATGTTGCTCTTCTAAAGTTTTAAGCATATGAAAAGAATCAGAGCTACTCTGTGTAAGTTTGTTTCCTCCTGGGCTTCCTCTGTCAAGGCTGGCTTCTATGAAATGTCCCTTTCTTTATTT... |
Task1_train_2654 | Here is a genetic alteration in USH2A (usherin) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinal dystrophy | ATGGAATTGTTCTAGGACTAATAACTTTTGACTGGGCCAATCAGCTGCCATCTATCTATCTAAATGGTGGCTCACTCAGAAAGGTTTCCAGAAGTCTGTTGAACAAAATGTTGCATTCTTGCACTGTGGCTGAGCAGTGTGGCTGAATGTTTCATTTGGATGGCTCTTGCACAGTGTGCAAAGATGTTGCTCTTCTAAAGTTTTAAGCATATGAAAAGAATCAGAGCTACTCTGTGTAAGTTTGTTTCCTCCTGGGCTTCCTCTGTCAAGGCTGGCTTCTATGAAATGTCCCTTTCTTTATTTTACTCCCACATTGTTTG... | ATGGAATTGTTCTAGGACTAATAACTTTTGACTGGGCCAATCAGCTGCCATCTATCTATCTAAATGGTGGCTCACTCAGAAAGGTTTCCAGAAGTCTGTTGAACAAAATGTTGCATTCTTGCACTGTGGCTGAGCAGTGTGGCTGAATGTTTCATTTGGATGGCTCTTGCACAGTGTGCAAAGATGTTGCTCTTCTAAAGTTTTAAGCATATGAAAAGAATCAGAGCTACTCTGTGTAAGTTTGTTTCCTCCTGGGCTTCCTCTGTCAAGGCTGGCTTCTATGAAATGTCCCTTTCTTTATTTTACTCCCACATTGTTTG... |
Task1_train_2655 | This sequence variant lies in USH2A (usherin) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not specified | TTTTGGAAGCTGGAAAGTAGATGAATGTGGCAGAGACAATGCAATGTGCTCAGTGATGTCCATGTTTCCCTTTTCTCTCTGGGAACATGGGATGTTGAAACCTGGCTGCAGTAGGAGAAGCCACCTGACTAGATATGTCTGTGTGACTAGTGCATAGAAAGGATGTACTCTATATCCAGGTAGGAACTGTCTGTGTGCAATTGTCCCCTCTTGCGCCTTTTCCATTATGATCCAAGGGCTGCATGAAGCATCACAAGATGTAAGGGGCTTCGGTTCTAGAGATGTTACTTGGAAGACAACTGCCTAACTCATAATGAATT... | TTTTGGAAGCTGGAAAGTAGATGAATGTGGCAGAGACAATGCAATGTGCTCAGTGATGTCCATGTTTCCCTTTTCTCTCTGGGAACATGGGATGTTGAAACCTGGCTGCAGTAGGAGAAGCCACCTGACTAGATATGTCTGTGTGACTAGTGCATAGAAAGGATGTACTCTATATCCAGGTAGGAACTGTCTGTGTGCAATTGTCCCCTCTTGCGCCTTTTCCATTATGATCCAAGGGCTGCATGAAGCATCACAAGATGTAAGGGGCTTCGGTTCTAGAGATGTTACTTGGAAGACAACTGCCTAACTCATAATGAATT... |
Task1_train_2656 | Here is a genetic alteration in USH2A (usherin) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinal dystrophy | TTTTGGAAGCTGGAAAGTAGATGAATGTGGCAGAGACAATGCAATGTGCTCAGTGATGTCCATGTTTCCCTTTTCTCTCTGGGAACATGGGATGTTGAAACCTGGCTGCAGTAGGAGAAGCCACCTGACTAGATATGTCTGTGTGACTAGTGCATAGAAAGGATGTACTCTATATCCAGGTAGGAACTGTCTGTGTGCAATTGTCCCCTCTTGCGCCTTTTCCATTATGATCCAAGGGCTGCATGAAGCATCACAAGATGTAAGGGGCTTCGGTTCTAGAGATGTTACTTGGAAGACAACTGCCTAACTCATAATGAATT... | TTTTGGAAGCTGGAAAGTAGATGAATGTGGCAGAGACAATGCAATGTGCTCAGTGATGTCCATGTTTCCCTTTTCTCTCTGGGAACATGGGATGTTGAAACCTGGCTGCAGTAGGAGAAGCCACCTGACTAGATATGTCTGTGTGACTAGTGCATAGAAAGGATGTACTCTATATCCAGGTAGGAACTGTCTGTGTGCAATTGTCCCCTCTTGCGCCTTTTCCATTATGATCCAAGGGCTGCATGAAGCATCACAAGATGTAAGGGGCTTCGGTTCTAGAGATGTTACTTGGAAGACAACTGCCTAACTCATAATGAATT... |
Task1_train_2657 | A variant was discovered on Chromosome 1, affecting USH2A (usherin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | CCTTATTGCTGATATGAAGACACTTTGAGTGGTCTGGATAGAAGATCAAATCAGTCACAATAGTCCCTTAGGCCAAAGCCTAGTCCAGGCAAGGCTCTTACTCTCTTTAATTCTATGAAGGCTGAGAGAGATGAGGAAGCTGCAGAAGAATAGATGAAAGCTAACAGAAGTTGGTTCATGAGGTTTAAGAAAAAAAGCCATCTTCATAACATAAAAGTGCAAGGTGAAGCAGCAAGTGCTGATGTAGAAACTGCTGCCTCAAGTTACCCAGAACACCTAGGTAAGATCACTGATGAAGGTGGCTACACTAAACAACAGAT... | CCTTATTGCTGATATGAAGACACTTTGAGTGGTCTGGATAGAAGATCAAATCAGTCACAATAGTCCCTTAGGCCAAAGCCTAGTCCAGGCAAGGCTCTTACTCTCTTTAATTCTATGAAGGCTGAGAGAGATGAGGAAGCTGCAGAAGAATAGATGAAAGCTAACAGAAGTTGGTTCATGAGGTTTAAGAAAAAAAGCCATCTTCATAACATAAAAGTGCAAGGTGAAGCAGCAAGTGCTGATGTAGAAACTGCTGCCTCAAGTTACCCAGAACACCTAGGTAAGATCACTGATGAAGGTGGCTACACTAAACAACAGAT... |
Task1_train_2658 | Here is a mutation in USH2A (usherin) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAGATTTGCACACGCCTGTTTTCTAAAGCCTAACTTTTGCTTCCCTATTCATCAATTTACATTTATTTTCTATAAAAGGTGACCCGTATGATTTTTTTTTTTTTGTAGAGTAGATTTGTCTAAATCATTTTTAAA... | AATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAGATTTGCACACGCCTGTTTTCTAAAGCCTAACTTTTGCTTCCCTATTCATCAATTTACATTTATTTTCTATAAAAGGTGACCCGTATGATTTTTTTTTTTTTGTAGAGTAGATTTGTCTAAATCATTTTTAAA... |
Task1_train_2659 | Here is a genetic alteration in USH2A (usherin) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinitis pigmentosa | CCAGTGAACCAATGACACGAATTTTCCTGGGGCCCATCTCAGATGCTCCTTTTGCTTCCAACCTCACCCCTTTCCAACCCCTGAGTTGAACCCGTACCGCAAAAATTCTTTAAGTCAAATCTCGTAATTGCTTCCAATTTGTCTGTTTTGCTTTTGGCAATTAACAAACTGAAATGTTATCACGAAGGAGTTCATCTCATTTATAAGACCAGGTTTTCCCTCCACTAAAATATGCAGGCACTCTGTTCTTTATTACCAGCAGGAGATAAATGGCTGGTTTTCGTTGCTGAAGAATATATAATGGTTAAAAAGTCACTTTT... | CCAGTGAACCAATGACACGAATTTTCCTGGGGCCCATCTCAGATGCTCCTTTTGCTTCCAACCTCACCCCTTTCCAACCCCTGAGTTGAACCCGTACCGCAAAAATTCTTTAAGTCAAATCTCGTAATTGCTTCCAATTTGTCTGTTTTGCTTTTGGCAATTAACAAACTGAAATGTTATCACGAAGGAGTTCATCTCATTTATAAGACCAGGTTTTCCCTCCACTAAAATATGCAGGCACTCTGTTCTTTATTACCAGCAGGAGATAAATGGCTGGTTTTCGTTGCTGAAGAATATATAATGGTTAAAAAGTCACTTTT... |
Task1_train_2660 | An alteration has been detected in USH2A (usherin) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinal dystrophy | TCCTCATAGAAAACATTGAATAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAAGATTGA... | TCCTCATAGAAAACATTGAATAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAAGATTGA... |
Task1_train_2661 | This alteration in USH2A (usherin) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Retinitis pigmentosa 39 | TCCTCATAGAAAACATTGAATAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAAGATTGA... | TCCTCATAGAAAACATTGAATAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAAGATTGA... |
Task1_train_2662 | A genomic change on Chromosome 1 affects USH2A (usherin). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Retinitis pigmentosa | AAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAAGATTGATTCATAGATTTCTTAAGTCAATAAGGACACATTAAAAGAATCATCAACAAAAAGAAGCTGAATCTGTAATATCCTTCATGATTGTGCTAGC... | AAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAAGATTGATTCATAGATTTCTTAAGTCAATAAGGACACATTAAAAGAATCATCAACAAAAAGAAGCTGAATCTGTAATATCCTTCATGATTGTGCTAGC... |
Task1_train_2663 | A variant affecting Chromosome 1, within the gene USH2A (usherin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | ATTTGACGGTCATTTAAACTTCCATTTAAAAATATAAGATCTAAATTTTCATACTGTGCATTGTTTTTTAAATGAATACAAATGCCACAGGGAAATAACCTTATGAATCCTAGCACTTTAGAAAAAGTTCTTAACAATTATGATGTTCTACAAGTAATTTTGAAAATCTTGATAATCCCAACTTTGACTTGGGAAAATCTACTGACTCAGGGTGTTATTCTATCATTTGCATAATATAAAATAAATGTGTAGGTATTAGATCACCAGAATTCACATTTAGGATGGGAAGAGAGTTTTCAGTATAAACAGCAATACATGAA... | ATTTGACGGTCATTTAAACTTCCATTTAAAAATATAAGATCTAAATTTTCATACTGTGCATTGTTTTTTAAATGAATACAAATGCCACAGGGAAATAACCTTATGAATCCTAGCACTTTAGAAAAAGTTCTTAACAATTATGATGTTCTACAAGTAATTTTGAAAATCTTGATAATCCCAACTTTGACTTGGGAAAATCTACTGACTCAGGGTGTTATTCTATCATTTGCATAATATAAAATAAATGTGTAGGTATTAGATCACCAGAATTCACATTTAGGATGGGAAGAGAGTTTTCAGTATAAACAGCAATACATGAA... |
Task1_train_2664 | A genetic alteration is present in USH2A, USH2A-AS2 (usherin| USH2A antisense RNA 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Usher syndrome | AATAAAGTAGGACAGCTTTAAGGGAAACAAAGTGAACATAAAAGATAAGAGGAAACACCAAAGGGGAGAACCACTCTCTGAGCAGTTAAAACACTACAGACACCTATAGAAAACACACAGGCCACAAGATCGAGTTGCAAGGAAAGGGACAATGGGAGTGACGCTGATTTTATTAGTTCGGAAATGTGGTACAGGGCAAAGTACAGTACAGTCTAACAGATGGTCTTCTCATAAGGGACAGAGCAAAACTGACTCAAAAATAATTAAATAGTGCAATTATTCTCCAACCCTTGGGAGCATGTAGCTGCTCAGTGTTGTGG... | AATAAAGTAGGACAGCTTTAAGGGAAACAAAGTGAACATAAAAGATAAGAGGAAACACCAAAGGGGAGAACCACTCTCTGAGCAGTTAAAACACTACAGACACCTATAGAAAACACACAGGCCACAAGATCGAGTTGCAAGGAAAGGGACAATGGGAGTGACGCTGATTTTATTAGTTCGGAAATGTGGTACAGGGCAAAGTACAGTACAGTCTAACAGATGGTCTTCTCATAAGGGACAGAGCAAAACTGACTCAAAAATAATTAAATAGTGCAATTATTCTCCAACCCTTGGGAGCATGTAGCTGCTCAGTGTTGTGG... |
Task1_train_2665 | A variant affecting Chromosome 1, within the gene USH2A, USH2A-AS2 (usherin| USH2A antisense RNA 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Usher syndrome type 2A | TTTATATAGATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTT... | TTTATATAGATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTT... |
Task1_train_2666 | Mutation context: Chromosome 1, Gene USH2A, USH2A-AS2 (usherin| USH2A antisense RNA 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Retinitis pigmentosa 39 | TTTATATAGATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTT... | TTTATATAGATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTT... |
Task1_train_2667 | A variant was discovered in gene USH2A, USH2A-AS2 (usherin| USH2A antisense RNA 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Usher syndrome | TTTATATAGATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTT... | TTTATATAGATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTT... |
Task1_train_2668 | The gene USH2A, USH2A-AS2 (usherin| USH2A antisense RNA 2) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Usher syndrome type 2 | ATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTTCTGTTATTA... | ATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTTCTGTTATTA... |
Task1_train_2669 | The following genetic variant occurs in USH2A, USH2A-AS2 (usherin| USH2A antisense RNA 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinal dystrophy | AAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTTCTGTTATTATCTTACAATTTTG... | AAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTTCTGTTATTATCTTACAATTTTG... |
Task1_train_2670 | A genetic alteration is present in USH2A, USH2A-AS2 (usherin| USH2A antisense RNA 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Retinitis pigmentosa 39 | AAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTTCTGTTATTATCTTACAATTTTG... | AAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTGGGTCTATGGTGATGTTTTAAACTTCTGTTATTATCTTACAATTTTG... |
Task1_train_2671 | This gene mutation involves USH2A, USH2A-AS2 (usherin| USH2A antisense RNA 2) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | CAGCCTCAGTCCTCAGATATGGCAGACCGTAATGTTAAGTTTTATGAAAGACTGCTTCCTTTCAGTTGCATGGGAAGTGTTAAAAGAAAGCCAAGCACATAATAGGCACTCCGTATATATTTATCTAAGTGTATTGATTTTTTTTTGTTTTGTTTGTTTTGAGACAGAGCTCTCTTGCCCAGGCTGGAGTGCAGAGGTGCAATCACAGGTCACTGCAGCCTTCGACTCCCAGTCTTCAGCAATCCTCTTGCCTCAGCTTCCCGAGTAGCTGGAACTAGCTACAGTGTCTGGCTAACTTTTTATTTTTATTTTTATTTTCA... | CAGCCTCAGTCCTCAGATATGGCAGACCGTAATGTTAAGTTTTATGAAAGACTGCTTCCTTTCAGTTGCATGGGAAGTGTTAAAAGAAAGCCAAGCACATAATAGGCACTCCGTATATATTTATCTAAGTGTATTGATTTTTTTTTGTTTTGTTTGTTTTGAGACAGAGCTCTCTTGCCCAGGCTGGAGTGCAGAGGTGCAATCACAGGTCACTGCAGCCTTCGACTCCCAGTCTTCAGCAATCCTCTTGCCTCAGCTTCCCGAGTAGCTGGAACTAGCTACAGTGTCTGGCTAACTTTTTATTTTTATTTTTATTTTCA... |
Task1_train_2672 | A variant affecting Chromosome 1, within the gene USH2A, USH2A-AS2 (usherin| USH2A antisense RNA 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CAAGGAAAAGCAGTTACAGTTGCCCATTGTATTTAGAGAAATGTATAAAAATGTTTATAGCAGTCTTATTCATTGAAGCAAAACATGGGAACAACCAATACATCATTGGTAAGAGAAGAGAAATACTACACAGCCAAGAAAATGTATACCTATGTGGACACATAAATGACTCAGAAACAATGTTGAGTGCTAAAGAGAGAGTATAAAACCAATTTTATAAATTTCAAAAGCAAGAATTTGTAGGCATTCATTAGGTGTTCAAACTATAAAAATGCATGTGAATAACAAATACAAAATTCTGATTACCTATGACATCTGAA... | CAAGGAAAAGCAGTTACAGTTGCCCATTGTATTTAGAGAAATGTATAAAAATGTTTATAGCAGTCTTATTCATTGAAGCAAAACATGGGAACAACCAATACATCATTGGTAAGAGAAGAGAAATACTACACAGCCAAGAAAATGTATACCTATGTGGACACATAAATGACTCAGAAACAATGTTGAGTGCTAAAGAGAGAGTATAAAACCAATTTTATAAATTTCAAAAGCAAGAATTTGTAGGCATTCATTAGGTGTTCAAACTATAAAAATGCATGTGAATAACAAATACAAAATTCTGATTACCTATGACATCTGAA... |
Task1_train_2673 | This variant affects gene USH2A, USH2A-AS2 (usherin| USH2A antisense RNA 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | ATGTATACCTATGTGGACACATAAATGACTCAGAAACAATGTTGAGTGCTAAAGAGAGAGTATAAAACCAATTTTATAAATTTCAAAAGCAAGAATTTGTAGGCATTCATTAGGTGTTCAAACTATAAAAATGCATGTGAATAACAAATACAAAATTCTGATTACCTATGACATCTGAAAGGAGATGGAAACAAGATAGGAAAGACTTTATAGATAGACCAAAAATGATAATATTCAGTTATCAGGCGTGGTGGTAGGTCCAGGAGTGTTCACTATATTATTATACTTGATTATCTATATGTCATATGAAAAATATATAA... | ATGTATACCTATGTGGACACATAAATGACTCAGAAACAATGTTGAGTGCTAAAGAGAGAGTATAAAACCAATTTTATAAATTTCAAAAGCAAGAATTTGTAGGCATTCATTAGGTGTTCAAACTATAAAAATGCATGTGAATAACAAATACAAAATTCTGATTACCTATGACATCTGAAAGGAGATGGAAACAAGATAGGAAAGACTTTATAGATAGACCAAAAATGATAATATTCAGTTATCAGGCGTGGTGGTAGGTCCAGGAGTGTTCACTATATTATTATACTTGATTATCTATATGTCATATGAAAAATATATAA... |
Task1_train_2674 | Assess the clinical impact of this variant on gene USH2A (usherin), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Retinal dystrophy | CAGGCCTCTTCCTTTCTCTACCCATAGGCACCCCCTAAGTACTCTAGAGGGATGAATAGTGGGCTGGGTTCCAGTACGAACTGCCAGGGCCAAAGGCCAGGGGAACCTGGGTCTCTGACTGTGTGGCATAACAATGGAAATCCCTGTTCATATTTCTAATGCCCACCTTCTTTGAGAGAAGAGGCAAAGTTATTTGTGTTTGTTTTTCCAGAGCCCAATCCACTCCAATTAGCCCTACTTACATCTGTTCCCTTGGCTTTCAATACCATCCTTTGCTGGAAGTTCTGACTTCAGAACTAGACTTGTTTCTTGAGCAGCCT... | CAGGCCTCTTCCTTTCTCTACCCATAGGCACCCCCTAAGTACTCTAGAGGGATGAATAGTGGGCTGGGTTCCAGTACGAACTGCCAGGGCCAAAGGCCAGGGGAACCTGGGTCTCTGACTGTGTGGCATAACAATGGAAATCCCTGTTCATATTTCTAATGCCCACCTTCTTTGAGAGAAGAGGCAAAGTTATTTGTGTTTGTTTTTCCAGAGCCCAATCCACTCCAATTAGCCCTACTTACATCTGTTCCCTTGGCTTTCAATACCATCCTTTGCTGGAAGTTCTGACTTCAGAACTAGACTTGTTTCTTGAGCAGCCT... |
Task1_train_2675 | Given this context: Chromosome 1, gene USH2A (usherin) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | CAGGCCTCTTCCTTTCTCTACCCATAGGCACCCCCTAAGTACTCTAGAGGGATGAATAGTGGGCTGGGTTCCAGTACGAACTGCCAGGGCCAAAGGCCAGGGGAACCTGGGTCTCTGACTGTGTGGCATAACAATGGAAATCCCTGTTCATATTTCTAATGCCCACCTTCTTTGAGAGAAGAGGCAAAGTTATTTGTGTTTGTTTTTCCAGAGCCCAATCCACTCCAATTAGCCCTACTTACATCTGTTCCCTTGGCTTTCAATACCATCCTTTGCTGGAAGTTCTGACTTCAGAACTAGACTTGTTTCTTGAGCAGCCT... | CAGGCCTCTTCCTTTCTCTACCCATAGGCACCCCCTAAGTACTCTAGAGGGATGAATAGTGGGCTGGGTTCCAGTACGAACTGCCAGGGCCAAAGGCCAGGGGAACCTGGGTCTCTGACTGTGTGGCATAACAATGGAAATCCCTGTTCATATTTCTAATGCCCACCTTCTTTGAGAGAAGAGGCAAAGTTATTTGTGTTTGTTTTTCCAGAGCCCAATCCACTCCAATTAGCCCTACTTACATCTGTTCCCTTGGCTTTCAATACCATCCTTTGCTGGAAGTTCTGACTTCAGAACTAGACTTGTTTCTTGAGCAGCCT... |
Task1_train_2676 | This variant affects gene USH2A (usherin) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | CCAAACCTGGCAAGTCAGCCAAAGGATCAAACCAATAACTTAGTATATACATGGTTATATTAAAAGTTAAAGGGGTCTTAAAAGTAAAGCCAAGCTACCACTAAAAAGGGCATCAGCAATGTCCCAGAACATGCCTGAACACAGAAGAACTTCTCATTCTCCAGGAATCACCAAAGCTCCAGGGAGTAGTTCAAGCCAAAATTGTGATCTCCCTGCCTTGTCCTTCAAATGGTGTGTACTCCAAGCATATTTTCTGTGCAGCTGGAGGCTTTGTTATAGACAGAAGGATCCTGCTTAGTGAGGCCAGTGTTTACAGCCTA... | CCAAACCTGGCAAGTCAGCCAAAGGATCAAACCAATAACTTAGTATATACATGGTTATATTAAAAGTTAAAGGGGTCTTAAAAGTAAAGCCAAGCTACCACTAAAAAGGGCATCAGCAATGTCCCAGAACATGCCTGAACACAGAAGAACTTCTCATTCTCCAGGAATCACCAAAGCTCCAGGGAGTAGTTCAAGCCAAAATTGTGATCTCCCTGCCTTGTCCTTCAAATGGTGTGTACTCCAAGCATATTTTCTGTGCAGCTGGAGGCTTTGTTATAGACAGAAGGATCCTGCTTAGTGAGGCCAGTGTTTACAGCCTA... |
Task1_train_2677 | This mutation is located in gene USH2A (usherin) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Usher syndrome type 2A | CCAAACCTGGCAAGTCAGCCAAAGGATCAAACCAATAACTTAGTATATACATGGTTATATTAAAAGTTAAAGGGGTCTTAAAAGTAAAGCCAAGCTACCACTAAAAAGGGCATCAGCAATGTCCCAGAACATGCCTGAACACAGAAGAACTTCTCATTCTCCAGGAATCACCAAAGCTCCAGGGAGTAGTTCAAGCCAAAATTGTGATCTCCCTGCCTTGTCCTTCAAATGGTGTGTACTCCAAGCATATTTTCTGTGCAGCTGGAGGCTTTGTTATAGACAGAAGGATCCTGCTTAGTGAGGCCAGTGTTTACAGCCTA... | CCAAACCTGGCAAGTCAGCCAAAGGATCAAACCAATAACTTAGTATATACATGGTTATATTAAAAGTTAAAGGGGTCTTAAAAGTAAAGCCAAGCTACCACTAAAAAGGGCATCAGCAATGTCCCAGAACATGCCTGAACACAGAAGAACTTCTCATTCTCCAGGAATCACCAAAGCTCCAGGGAGTAGTTCAAGCCAAAATTGTGATCTCCCTGCCTTGTCCTTCAAATGGTGTGTACTCCAAGCATATTTTCTGTGCAGCTGGAGGCTTTGTTATAGACAGAAGGATCCTGCTTAGTGAGGCCAGTGTTTACAGCCTA... |
Task1_train_2678 | A mutation in USH2A (usherin), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinitis pigmentosa 39 | CCAAACCTGGCAAGTCAGCCAAAGGATCAAACCAATAACTTAGTATATACATGGTTATATTAAAAGTTAAAGGGGTCTTAAAAGTAAAGCCAAGCTACCACTAAAAAGGGCATCAGCAATGTCCCAGAACATGCCTGAACACAGAAGAACTTCTCATTCTCCAGGAATCACCAAAGCTCCAGGGAGTAGTTCAAGCCAAAATTGTGATCTCCCTGCCTTGTCCTTCAAATGGTGTGTACTCCAAGCATATTTTCTGTGCAGCTGGAGGCTTTGTTATAGACAGAAGGATCCTGCTTAGTGAGGCCAGTGTTTACAGCCTA... | CCAAACCTGGCAAGTCAGCCAAAGGATCAAACCAATAACTTAGTATATACATGGTTATATTAAAAGTTAAAGGGGTCTTAAAAGTAAAGCCAAGCTACCACTAAAAAGGGCATCAGCAATGTCCCAGAACATGCCTGAACACAGAAGAACTTCTCATTCTCCAGGAATCACCAAAGCTCCAGGGAGTAGTTCAAGCCAAAATTGTGATCTCCCTGCCTTGTCCTTCAAATGGTGTGTACTCCAAGCATATTTTCTGTGCAGCTGGAGGCTTTGTTATAGACAGAAGGATCCTGCTTAGTGAGGCCAGTGTTTACAGCCTA... |
Task1_train_2679 | This mutation occurs in USH2A (usherin) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Usher syndrome | CTAATGCATAGGGCAGGCAGATTCTATTCTGTAGACATGTTTCCTGCTCTTCTATTCCCATCTCCATGATCCAGCTAGTTTCTAGGGACGGGCATGTCTCTCTTCAGGTTCTTTAGTTTGCTTATATCTATGAAAAGGCAGACTAGATCTCATCTACAAGAATTATACTAATAACAGCTCTAGACACTATTGCATATGAGGTTCAGATGGGAACCACCATGATATGCAGCCTAAAGGAGAAAAGACTTGGGTGGATATAATGTTATTGAAAATGTTATTGGAAGGATGATAAATTAGGTTAACGACAGCCCCCAAGGAAG... | CTAATGCATAGGGCAGGCAGATTCTATTCTGTAGACATGTTTCCTGCTCTTCTATTCCCATCTCCATGATCCAGCTAGTTTCTAGGGACGGGCATGTCTCTCTTCAGGTTCTTTAGTTTGCTTATATCTATGAAAAGGCAGACTAGATCTCATCTACAAGAATTATACTAATAACAGCTCTAGACACTATTGCATATGAGGTTCAGATGGGAACCACCATGATATGCAGCCTAAAGGAGAAAAGACTTGGGTGGATATAATGTTATTGAAAATGTTATTGGAAGGATGATAAATTAGGTTAACGACAGCCCCCAAGGAAG... |
Task1_train_2680 | This alteration in USH2A, USH2A-AS1 (usherin| USH2A antisense RNA 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GGAATCTACCATATCAGTGAAGTTTTTAGGAGTTCAAGTGGCCTGAGACATGCTAGGATATCCCCTCCAAAATAAAGGACAAATTATTGCACCTTGCTTCTACCACCACTAAGAAGGAAACAAAATGTCTAGTTGACCTCTTCACATTCTGAAGGGAGCATATTCCACATTTGAGAATACTGTTCTGAGAAATTTACTGAGTAATATGGAATGCTGCCAGTTTTGAGTGTATCCCAGAGGCGGAAAGGGCTCTGCACCAGGTCCAGCCTGTGGTACAGGCAGATGAGCCACTTGGGACATAACATGTAGTAATTTTTACA... | GGAATCTACCATATCAGTGAAGTTTTTAGGAGTTCAAGTGGCCTGAGACATGCTAGGATATCCCCTCCAAAATAAAGGACAAATTATTGCACCTTGCTTCTACCACCACTAAGAAGGAAACAAAATGTCTAGTTGACCTCTTCACATTCTGAAGGGAGCATATTCCACATTTGAGAATACTGTTCTGAGAAATTTACTGAGTAATATGGAATGCTGCCAGTTTTGAGTGTATCCCAGAGGCGGAAAGGGCTCTGCACCAGGTCCAGCCTGTGGTACAGGCAGATGAGCCACTTGGGACATAACATGTAGTAATTTTTACA... |
Task1_train_2681 | This variant lies on Chromosome 1 and affects the gene USH2A, USH2A-AS1 (usherin| USH2A antisense RNA 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal recessive retinitis pigmentosa | AAAAAACAAGTCTTATGAAATAAATTATACCAACTTAGTTTCAATATATGATTATACTGGAAAAATACAAGTGACATACAAAGAGGGAGGCTTGTACACATAATATTATATTAAGAAAAAATGCCCTGTTTAATCAATATAGAGGGAGAATTCTGTCACAGAATTCTGCAAACTCAAAAAATGTCCAAATGAAGCCCTAAGCCAATTCTGAAAGGACATTAGTTAAAAATAACAATACCTGTGAAAACGCCATGGGAATAGACTGTTGAGGTGATTGTTCAGAAAGCATATTGATGTCATACCCCACAACTTTTCCTCTT... | AAAAAACAAGTCTTATGAAATAAATTATACCAACTTAGTTTCAATATATGATTATACTGGAAAAATACAAGTGACATACAAAGAGGGAGGCTTGTACACATAATATTATATTAAGAAAAAATGCCCTGTTTAATCAATATAGAGGGAGAATTCTGTCACAGAATTCTGCAAACTCAAAAAATGTCCAAATGAAGCCCTAAGCCAATTCTGAAAGGACATTAGTTAAAAATAACAATACCTGTGAAAACGCCATGGGAATAGACTGTTGAGGTGATTGTTCAGAAAGCATATTGATGTCATACCCCACAACTTTTCCTCTT... |
Task1_train_2682 | A genetic alteration is present in USH2A (usherin) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACACCCCTGGCCACAATGAATTGGCTCAGAGGTAACCAACCAAACAAAACTGAGTCAATTCGAATTTTCCTCTAGAAATTATAACTAAGAGGTAGCTAAT... | CTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACACCCCTGGCCACAATGAATTGGCTCAGAGGTAACCAACCAAACAAAACTGAGTCAATTCGAATTTTCCTCTAGAAATTATAACTAAGAGGTAGCTAAT... |
Task1_train_2683 | Consider a variant on Chromosome 1 in gene USH2A (usherin). Determine its clinical classification and disease relevance. | Pathogenic; Usher syndrome | CATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACACCCCTGGCCACAATGAATTGGCTCAGAGGTAACCAACCAAACAAAACTGAGTCAATTCGAATTTTCCTCTAGAAATTATAACTAAGAGGTAGCTAATAAATCGCTCTGTTGTGGCTGG... | CATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACACCCCTGGCCACAATGAATTGGCTCAGAGGTAACCAACCAAACAAAACTGAGTCAATTCGAATTTTCCTCTAGAAATTATAACTAAGAGGTAGCTAATAAATCGCTCTGTTGTGGCTGG... |
Task1_train_2684 | A variant has been detected on Chromosome 1 in USH2A (usherin). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | CAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACACCCCTGGCCACAATGAATTGGCTCAGAGGTAACCAACCAAACAAAACTGAGTCAATTCGAATTTTCCTCTAGAAATTATAACTAAGAGGTAGCTAATAAATCGCTCTGTTGTGGCTGGTGGTAGAATTATAAACAATTTCAGGGGACAT... | CAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACACCCCTGGCCACAATGAATTGGCTCAGAGGTAACCAACCAAACAAAACTGAGTCAATTCGAATTTTCCTCTAGAAATTATAACTAAGAGGTAGCTAATAAATCGCTCTGTTGTGGCTGGTGGTAGAATTATAAACAATTTCAGGGGACAT... |
Task1_train_2685 | This variant affects the gene USH2A (usherin) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Usher syndrome | TACAGGCGAGTTAGCACACTTGGCATTTAATTCACATTCTTCTCCCTTTTTATTCTAGATGAATGACCTACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAA... | TACAGGCGAGTTAGCACACTTGGCATTTAATTCACATTCTTCTCCCTTTTTATTCTAGATGAATGACCTACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAA... |
Task1_train_2686 | This variant affects gene USH2A (usherin) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Usher syndrome type 2A | TACAGGCGAGTTAGCACACTTGGCATTTAATTCACATTCTTCTCCCTTTTTATTCTAGATGAATGACCTACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAA... | TACAGGCGAGTTAGCACACTTGGCATTTAATTCACATTCTTCTCCCTTTTTATTCTAGATGAATGACCTACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAA... |
Task1_train_2687 | A variant on Chromosome 1 in gene USH2A (usherin) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Retinitis pigmentosa 39 | TACAGGCGAGTTAGCACACTTGGCATTTAATTCACATTCTTCTCCCTTTTTATTCTAGATGAATGACCTACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAA... | TACAGGCGAGTTAGCACACTTGGCATTTAATTCACATTCTTCTCCCTTTTTATTCTAGATGAATGACCTACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAA... |
Task1_train_2688 | This variant impacts the gene USH2A (usherin) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | TACAGGCGAGTTAGCACACTTGGCATTTAATTCACATTCTTCTCCCTTTTTATTCTAGATGAATGACCTACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAA... | TACAGGCGAGTTAGCACACTTGGCATTTAATTCACATTCTTCTCCCTTTTTATTCTAGATGAATGACCTACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAA... |
Task1_train_2689 | The gene USH2A (usherin), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Retinitis pigmentosa | ACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAATAACACTAGAAATAATAATTATTTATAATACTGAAGTAATTTAGTCTTCACAAAATATATATTTATGTT... | ACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAATAACACTAGAAATAATAATTATTTATAATACTGAAGTAATTTAGTCTTCACAAAATATATATTTATGTT... |
Task1_train_2690 | Here is a genetic alteration in USH2A (usherin) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | AAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAATAACACTAGAAATAATAATTATTTATAATACTGAAGTAATTTAGTCTTCACAAAATATATATTTATGTTTCCTGCAGA... | AAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAATAACACTAGAAATAATAATTATTTATAATACTGAAGTAATTTAGTCTTCACAAAATATATATTTATGTTTCCTGCAGA... |
Task1_train_2691 | Assess the clinical impact of this variant on gene USH2A (usherin), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Usher syndrome type 2 | GTCTTTCATAATTCCATCCAATAATTAGCTCCACTTTATAAGATGTTAAGAAAGAAATCTAGAGCCAGTAGTATGCTGGAGTACACTGCACTGGCTCATAAGAGCAGATTAAGTACATTTCTTCTGAAATCCATGTTCAGTGACATCTCACTGGTAGATTGAAATTGATTATGGTGGCCTTTTTTTTTTCTTAGTCAGTTGTTAATTATTTACAAGCACAGAACCACCCAAGGTTGTCTAGCATCCCTATAAAACGGACTTGAAATAGAAGTTTGAGTTCAGAAAAATCAGGTTTCAATTTCTTGTAGATCTGAATGGTG... | GTCTTTCATAATTCCATCCAATAATTAGCTCCACTTTATAAGATGTTAAGAAAGAAATCTAGAGCCAGTAGTATGCTGGAGTACACTGCACTGGCTCATAAGAGCAGATTAAGTACATTTCTTCTGAAATCCATGTTCAGTGACATCTCACTGGTAGATTGAAATTGATTATGGTGGCCTTTTTTTTTTCTTAGTCAGTTGTTAATTATTTACAAGCACAGAACCACCCAAGGTTGTCTAGCATCCCTATAAAACGGACTTGAAATAGAAGTTTGAGTTCAGAAAAATCAGGTTTCAATTTCTTGTAGATCTGAATGGTG... |
Task1_train_2692 | Given this context: Chromosome 1, gene USH2A (usherin) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TTGAAATTTCTCCAATATTTGAAGACTACAGAAATAATCAATAATCAATAATATGAAAACTCATATTCTGATAGATATTGGCTATTGAGCTAGTTAAAAATTAAATTGATTTATAATATTTCTAGACTATTTCCATTTACATATGCTGTTGACTCCCAAATCCATATCTCCAATCCAGAAATCTCTCTTTTATTTATGAATTAATGAATATTTATCGCGTGATTACTATGTACCAAATACTGTGCTAAGTGCTGTGTAATACAGTAGTAAACTAAATACACAATACCCATTGCATCTCTTTCACAAAGCTCTCTTACAGT... | TTGAAATTTCTCCAATATTTGAAGACTACAGAAATAATCAATAATCAATAATATGAAAACTCATATTCTGATAGATATTGGCTATTGAGCTAGTTAAAAATTAAATTGATTTATAATATTTCTAGACTATTTCCATTTACATATGCTGTTGACTCCCAAATCCATATCTCCAATCCAGAAATCTCTCTTTTATTTATGAATTAATGAATATTTATCGCGTGATTACTATGTACCAAATACTGTGCTAAGTGCTGTGTAATACAGTAGTAAACTAAATACACAATACCCATTGCATCTCTTTCACAAAGCTCTCTTACAGT... |
Task1_train_2693 | A mutation in USH2A (usherin), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Usher syndrome type 2A | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... |
Task1_train_2694 | Located on Chromosome 1, this mutation impacts USH2A (usherin). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Usher syndrome type 2A | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... |
Task1_train_2695 | This genomic variant is located on Chromosome 1, within the USH2A (usherin) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Retinitis pigmentosa 39 | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... |
Task1_train_2696 | The gene USH2A (usherin) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinal dystrophy | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... |
Task1_train_2697 | Gene USH2A (usherin) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Retinitis pigmentosa 39 | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... |
Task1_train_2698 | Gene USH2A (usherin) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Usher syndrome | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... | CTATAATATCCTAAAATAAATTTCACAGAGAAGTGAAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTT... |
Task1_train_2699 | This variant affects gene USH2A (usherin) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinitis pigmentosa 39 | AAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTTCAGCAGTGAGACCTCACTCTGTTAGTTCATGGCTG... | AAGTAACTAACTAAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTTCAGCAGTGAGACCTCACTCTGTTAGTTCATGGCTG... |
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