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_1200 | The gene ABCA4 (ATP binding cassette subfamily A member 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCA... | TTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCA... |
Task1_train_1201 | A genetic alteration is present in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAG... | AATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCACGAATTCACTGGAAGAG... |
Task1_train_1202 | This alteration occurs within gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Severe early-childhood-onset retinal dystrophy | AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTG... | AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTG... |
Task1_train_1203 | The following genetic variant occurs in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinal dystrophy | AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTG... | AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTG... |
Task1_train_1204 | A variant was discovered on Chromosome 1, affecting ABCA4 (ATP binding cassette subfamily A member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Stargardt disease | AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTG... | AGCACAGACATAAAACTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTG... |
Task1_train_1205 | The gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCA... | CTGGGTCTCCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCA... |
Task1_train_1206 | Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGT... | CCTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGT... |
Task1_train_1207 | This variant impacts the gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTT... | CTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTT... |
Task1_train_1208 | A variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTT... | CTGATGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTT... |
Task1_train_1209 | This variant affects gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | TGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATC... | TGTGCTGAAGTGGTCTCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATC... |
Task1_train_1210 | Here is a genetic alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAA... | TCTGCTGGTTGGTACTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAA... |
Task1_train_1211 | An alteration has been detected in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinal dystrophy | CTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAA... | CTTTTTGCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAA... |
Task1_train_1212 | This genomic variant is located on Chromosome 1, within the ABCA4 (ATP binding cassette subfamily A member 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | GCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACAC... | GCCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACAC... |
Task1_train_1213 | A genomic change on Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Retinal dystrophy | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... |
Task1_train_1214 | This alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cone-rod dystrophy 3 | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... |
Task1_train_1215 | The gene ABCA4 (ATP binding cassette subfamily A member 4), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Age related macular degeneration 2 | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... |
Task1_train_1216 | Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance. | Pathogenic; Cone-rod dystrophy 3 | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... |
Task1_train_1217 | The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Severe early-childhood-onset retinal dystrophy | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... |
Task1_train_1218 | Here is a mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinitis pigmentosa 19 | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... |
Task1_train_1219 | A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Age related macular degeneration 2 | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... |
Task1_train_1220 | Gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinitis pigmentosa 19 | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... |
Task1_train_1221 | A variant affecting Chromosome 1, within the gene ABCA4 (ATP binding cassette subfamily A member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Abnormality of the eye | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... | CCTTCATCATTTTTATGTTATAGCACCCAAGGAGGCCTCTTCTTAGTTTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACT... |
Task1_train_1222 | Here is a mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; ABCA4-related disorder | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... |
Task1_train_1223 | Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Cone-rod dystrophy | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... |
Task1_train_1224 | The gene ABCA4 (ATP binding cassette subfamily A member 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinitis pigmentosa | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... |
Task1_train_1225 | The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Age related macular degeneration 2 | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... |
Task1_train_1226 | A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cone-rod dystrophy 3 | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... |
Task1_train_1227 | A variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Severe early-childhood-onset retinal dystrophy | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... |
Task1_train_1228 | A mutation on Chromosome 1 affecting ABCA4 (ATP binding cassette subfamily A member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinitis pigmentosa 19 | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... | TTTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCA... |
Task1_train_1229 | This mutation occurs in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; not provided | TTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAG... | TTCACTTACCACTGAAATTCAGGTTTAATTAGGGAATATTAATGTTGAAATGAAGCTCAACCAATTGCTCTTAAAACAGCCTAACCTTACAGAATAAGACACTCACTTCTATGTTGCACCAAACCGCACCAAACTGGTGTGTAATCTGGCATGTAATACTTGCAGACCATTTAAAGCTAGTTGTTTCATTTTGGCTAAAGCATCTCTGTAGGAGGAGGCTTCAGAATGTGTTCATCGAAATCTTCTGCAAATGGTCCCAGAACAAAGACACTGATTCTGGTGGCGAGAGCCTGTGTGAGTAGCCATGTCTGGAGTGGCAG... |
Task1_train_1230 | A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Retinal dystrophy | GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCT... | GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCT... |
Task1_train_1231 | The gene ABCA4 (ATP binding cassette subfamily A member 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Age related macular degeneration 2 | GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCT... | GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCT... |
Task1_train_1232 | The gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Cone-rod dystrophy 3 | GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCT... | GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCT... |
Task1_train_1233 | A genomic change on Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Severe early-childhood-onset retinal dystrophy | GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCT... | GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCT... |
Task1_train_1234 | This sequence variant lies in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Retinitis pigmentosa 19 | GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCT... | GGCAATGATGGCAATGCGGTCCCCAAGGAGGTCGGCCTCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCT... |
Task1_train_1235 | Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Retinitis pigmentosa 19 | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... |
Task1_train_1236 | Given this context: Chromosome 1, gene ABCA4 (ATP binding cassette subfamily A member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Retinitis pigmentosa 19 | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... |
Task1_train_1237 | This alteration occurs within gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Severe early-childhood-onset retinal dystrophy | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... |
Task1_train_1238 | A mutation on Chromosome 1 affecting ABCA4 (ATP binding cassette subfamily A member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Age related macular degeneration 2 | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... |
Task1_train_1239 | A genetic alteration is present in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cone-rod dystrophy 3 | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... |
Task1_train_1240 | This sequence variant lies in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Retinal dystrophy | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... | GCAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGA... |
Task1_train_1241 | A variant has been detected on Chromosome 1 in ABCA4 (ATP binding cassette subfamily A member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cone-rod dystrophy 3 | CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGAT... | CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGAT... |
Task1_train_1242 | A mutation found in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Retinitis pigmentosa 19 | CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGAT... | CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGAT... |
Task1_train_1243 | Given this context: Chromosome 1, gene ABCA4 (ATP binding cassette subfamily A member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Age related macular degeneration 2 | CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGAT... | CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGAT... |
Task1_train_1244 | This sequence change occurs on Chromosome 1, altering ABCA4 (ATP binding cassette subfamily A member 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Severe early-childhood-onset retinal dystrophy | CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGAT... | CAATCACCAGGCCTGCCCTGGGTTGGGCATTGTTGGTAAAGGGTGTACAGCAATTTCCTGGCTATATAGTTGCAAAAATCAGGAGTTAACTAAAAAAAAAAACCCAAGGGAACTAATTCAGCAGCAAATTCCAGCATATTAGGACAATAATAACTAACATTTCATAGCTTCCTACATACTGTAAAGCATTGCCACACACAGTGTCTCTGTATCCAGCATAGGATCTGATTCAAATAAATCTCTATATTAGGGGCTCATGTATTATGGTCAGCATCTAGGGAGTTTCATATGTACATTTTCTGGATCATTAAGCTCTGGAT... |
Task1_train_1245 | Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | CTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGG... | CTTAGATTCACCAAGTCACTGATAAACCCCCTTCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGG... |
Task1_train_1246 | This alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Severe early-childhood-onset retinal dystrophy | TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAG... | TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAG... |
Task1_train_1247 | The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Age related macular degeneration 2 | TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAG... | TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAG... |
Task1_train_1248 | The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Cone-rod dystrophy 3 | TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAG... | TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAG... |
Task1_train_1249 | This variant impacts the gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Retinitis pigmentosa 19 | TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAG... | TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAG... |
Task1_train_1250 | A genetic alteration is present in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not specified | TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAG... | TCTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAG... |
Task1_train_1251 | Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | CTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGG... | CTGAGTGTAGTCATTGTGGTTCCTGTACTCAGCTACAAAATGGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGG... |
Task1_train_1252 | This variant affects the gene ABCA4 (ATP binding cassette subfamily A member 4) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Age related macular degeneration 2 | GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTT... | GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTT... |
Task1_train_1253 | A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Severe early-childhood-onset retinal dystrophy | GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTT... | GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTT... |
Task1_train_1254 | The gene ABCA4 (ATP binding cassette subfamily A member 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinitis pigmentosa 19 | GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTT... | GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTT... |
Task1_train_1255 | Here is a variant affecting ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Cone-rod dystrophy 3 | GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTT... | GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTT... |
Task1_train_1256 | A variant affecting Chromosome 1, within the gene ABCA4 (ATP binding cassette subfamily A member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; ABCA4-related retinopathy | GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTT... | GGCAGGTGAGAGAGTGGGGACCACAGCTAGGGCTGCAGTGAGAGCCCAGCCCAGGAGACTGAGCAGCAGCTGTTACCTGAGCGATACTTCAGGAGCAGATCCCAGATTGAGCGTCTCGAGTAAGGGTCCACCCCAGAGGTGGGTTCGTCCAGAATCACCACCTTGGCATCTCCCACAAAGGCAATGGCAACCGACAGCTTTCTCTGCATGCCACCTGGAGGCACAAGAAGGACGGGAGAGTTAAGGGGCTGTGGAGGGTGAGGAAGAGAAAGGCCCAGGGCAAGTGGCATTGTGGGGGTACCTTAACCCAGCAGTGGTTT... |
Task1_train_1257 | Chromosome 1 houses a mutation in gene ABCA4 (ATP binding cassette subfamily A member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | TGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAA... | TGTGGGGCCCCCTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAA... |
Task1_train_1258 | This gene mutation involves ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Retinitis pigmentosa 19 | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... |
Task1_train_1259 | Here is a genetic alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Severe early-childhood-onset retinal dystrophy | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... |
Task1_train_1260 | The gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cone-rod dystrophy 3 | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... |
Task1_train_1261 | This variant lies on Chromosome 1 and affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Age related macular degeneration 2 | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... |
Task1_train_1262 | The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Severe early-childhood-onset retinal dystrophy | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... |
Task1_train_1263 | A variant was discovered on Chromosome 1, affecting ABCA4 (ATP binding cassette subfamily A member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinal dystrophy | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... |
Task1_train_1264 | The variant affects gene ABCA4 (ATP binding cassette subfamily A member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinitis pigmentosa 19 | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... | CTTAGCACCAGTGTATACATCCAGGCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGT... |
Task1_train_1265 | Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | GCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGA... | GCCCTAATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGA... |
Task1_train_1266 | A variant was discovered on Chromosome 1, affecting ABCA4 (ATP binding cassette subfamily A member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | ATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAG... | ATGCAGAGGGCCACCTCTGCCATCCTTCTCTGCTTCTACTTGTTTCATGGTGCTCCCAGGCCAACGCCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAG... |
Task1_train_1267 | A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Severe early-childhood-onset retinal dystrophy | CCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAA... | CCGAGGGCCTTTGGGATTCCCAGCCTCAAAATGTTCACGTGCAGTCACAGGTGTCCCCAGCTCAGCCATCACGGAGCCTGGTGTTGGAGAGGATCAATAAAAGGTGTTCGGTGCATGACTCGAGGCGTTGCCTCCTGGGTGAGCAGTCATGGCTATTGAAAAGCCAGGTGTCATCATCATAAAGCCCGGGTAAGGTCTTGATGAAGGCCAGAACCCTAAGCAGTCCTAGGCATTTGCTGATTAATTGATCGAAGCCAGGCATGGGAATTACCACCACCAATATTAGCTTTGGATCCAAAACATAAAAAGCCTCAGAGCAA... |
Task1_train_1268 | A mutation in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinal dystrophy | AAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTA... | AAAATTTGTGGGAAAGAGTAGACAGCCGCTGATAGGGAAAGACTAAGCCAGGAAATGACAGGCTAGCATGGCAGCCAGCTTCTCTGCTGGAAGACTCACAAGGTGGTGGTTTTCCCAGCTCCATTGTGGCCCAGGAATGCGGTGATCTGGTTCTCGTAGAAGGTGATGTTCAGACGGTCCACAGCTGGCCGGCCACAGGGCTCAAAAATCTTTACCAGATTCTTCACGCATACCCCAGGAACCCACCCTGGATGCTCACGTTCAAAGAAGGAGTCTTGGAGGAAAAAAAATGAACATGATGTAAACATAATGCCTAATTA... |
Task1_train_1269 | A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Retinitis pigmentosa | CTCAAAAAACAAAAACAAAAACAAAGTCTATTCAAAGTGCTATGACGGGCAGCCAGCTTAAACTACAGCTTGAATATATGGTTTACCTGAGAAATTCACCTAGATGGGCATTTAAGTATCTTGGAATTAACACCAGGGTTGAGCCTGGTGATGGTATTAATACAAGCCTGGACAAATTGTGAAGTGTGGTATAAACACACGCATTGAACACACACACACACACACACACAAACAGACACTTTTTGGCAAACTTGGCATTTGGTTTAAAAAGATATCAGGACATCCTGGAAGGGGAAGAGGAGCAGAAGGGCCAGTCAGTC... | CTCAAAAAACAAAAACAAAAACAAAGTCTATTCAAAGTGCTATGACGGGCAGCCAGCTTAAACTACAGCTTGAATATATGGTTTACCTGAGAAATTCACCTAGATGGGCATTTAAGTATCTTGGAATTAACACCAGGGTTGAGCCTGGTGATGGTATTAATACAAGCCTGGACAAATTGTGAAGTGTGGTATAAACACACGCATTGAACACACACACACACACACACACAAACAGACACTTTTTGGCAAACTTGGCATTTGGTTTAAAAAGATATCAGGACATCCTGGAAGGGGAAGAGGAGCAGAAGGGCCAGTCAGTC... |
Task1_train_1270 | Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance. | Pathogenic; Isolated macular dystrophy | TTGGGTTGCTGAACACTTTGAGGTGCTGGGAGAGTGGTGCGTCTAGAGAGAGCATAGAAACTCTTCCCCCGACCCCATACTGTGCTTCTCTTCCATGTGGCAGTTCCTGAGCTGCATCCTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAA... | TTGGGTTGCTGAACACTTTGAGGTGCTGGGAGAGTGGTGCGTCTAGAGAGAGCATAGAAACTCTTCCCCCGACCCCATACTGTGCTTCTCTTCCATGTGGCAGTTCCTGAGCTGCATCCTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAA... |
Task1_train_1271 | Here is a mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Stargardt disease | AAACTCTTCCCCCGACCCCATACTGTGCTTCTCTTCCATGTGGCAGTTCCTGAGCTGCATCCTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAA... | AAACTCTTCCCCCGACCCCATACTGTGCTTCTCTTCCATGTGGCAGTTCCTGAGCTGCATCCTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAA... |
Task1_train_1272 | Located on Chromosome 1, this mutation impacts ABCA4 (ATP binding cassette subfamily A member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Severe early-childhood-onset retinal dystrophy | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... |
Task1_train_1273 | Gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinal dystrophy | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... |
Task1_train_1274 | Consider this mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Age related macular degeneration 2 | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... |
Task1_train_1275 | A mutation in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cone-rod dystrophy 3 | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... |
Task1_train_1276 | Gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Severe early-childhood-onset retinal dystrophy | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... |
Task1_train_1277 | Assess the clinical impact of this variant on gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Retinitis pigmentosa 19 | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... |
Task1_train_1278 | This mutation occurs in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinitis pigmentosa | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... | CTTCATTTTAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCA... |
Task1_train_1279 | A variant has been detected on Chromosome 1 in ABCA4 (ATP binding cassette subfamily A member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Stargardt disease | TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGAT... | TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGAT... |
Task1_train_1280 | Here is a genetic alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinal dystrophy | TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGAT... | TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGAT... |
Task1_train_1281 | A mutation in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cone-rod dystrophy 3 | TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGAT... | TAAAGCTGTGATTGTAAGTACAGGATTTTGGCAAAAGTGTGGGTAGCCTGGGCACCACATTTCCAGCTGGCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGAT... |
Task1_train_1282 | This alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | GCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTAT... | GCATCTGAAGACGGGGAAGCCTTGTGGGACTGAACCCGTGGAGTCTGTGTGAATTCTGGATAGTGTCAGAATTCAATTGAATTCTTGGACAACCCATTAATATAGGAGAATTGGTTGGTGCCAAAACAACAACAACAAAAAACCAAAACACACATTTGGTGTCAGAAGTGCTGTCAAGAAAAAAGATACCAGAGTGCTAACCCCAGGTACCTCATAATGTGGCCTTGTTTAGGAACAGGGTCATTGCAGATGTGATTAGTTGAGATGAGGTCACATGGGAGCAAGGTAGGCACCTAATCCAATCCAGTTGGTATCCTTAT... |
Task1_train_1283 | Here’s a variant in ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Isolated macular dystrophy | GGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGAT... | GGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGAT... |
Task1_train_1284 | A variant was discovered on Chromosome 1, affecting ABCA4 (ATP binding cassette subfamily A member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | GGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGAT... | GGAGCAGAGGAACATGGAGGAGTAGGGAAAATCGTAAGATGAAGAAGAGAGTTGGAGGCCGGATAATGAAGCAGCTTGGAGGCCAGGGTTGAGACACTGGGTTTTACTCTGAAAGAGAGGAAAAGCCAGTGCAAGCATTTGACAGAGAGGGCTGACACCACATGACCTTGATTCTGAAAGGATCTCCCTGAATACAGTGTGCAGAATGGACTGATGGGAGGTGGTAGTGGAAGGAAGAGACTGGCATTGGGAAGGTTGTGGTGGAGGTGGTGACAAGAGATCAGATTCTGGATTTGTTTCTCAAGTAGAGCCAGTAGGAT... |
Task1_train_1285 | A variant was discovered on Chromosome 1, affecting ABCA4 (ATP binding cassette subfamily A member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | TGGAACTCCTGACCTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGTT... | TGGAACTCCTGACCTGAAGTGATCCACCTGCCTCTGTCTCCCAAAGTATTAGGGTTACAGGCGTGAGCCACCACGCCCAGCCTGAAATCAATTTCTTATCCTTGCTCAAAACAAAGTCCCATAAACTTTTAGGACTTCTAGGACCACAAACTTCTAGGACTTTTCACTGACTTAAGCCAGAGGTGTAATTCACTCTGTGACCCTACAGTTTCACCAGCTGTGGCTTCCTCAGATGGCCACTTTTCTTTTTGTTTCTAATAGCTCGAGTAACAAAGGGACCTTCCCATTGTCCCTGCTTCCAGCTTCTTTCCTGTGTTGTT... |
Task1_train_1286 | A mutation on Chromosome 1 affecting ABCA4 (ATP binding cassette subfamily A member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... |
Task1_train_1287 | With a mutation on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinal dystrophy | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... |
Task1_train_1288 | Gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Age related macular degeneration 2 | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... |
Task1_train_1289 | This sequence variant lies in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cone-rod dystrophy 3 | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... |
Task1_train_1290 | With a mutation on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Severe early-childhood-onset retinal dystrophy | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... |
Task1_train_1291 | A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Retinitis pigmentosa 19 | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... |
Task1_train_1292 | A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Retinitis pigmentosa | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... | TTACCATGATGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAG... |
Task1_train_1293 | A variant affecting Chromosome 1, within the gene ABCA4 (ATP binding cassette subfamily A member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGG... | TGAATATCGTCAGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGG... |
Task1_train_1294 | A variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | AGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAA... | AGGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAA... |
Task1_train_1295 | A variant was discovered on Chromosome 1, affecting ABCA4 (ATP binding cassette subfamily A member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Isolated macular dystrophy | GGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAA... | GGAGGAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAA... |
Task1_train_1296 | A mutation in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | GAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAG... | GAAGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAG... |
Task1_train_1297 | Here is a mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Cone-rod dystrophy 3 | AGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGA... | AGATGCTCATCGACATGATGGAGAAGCTGTCCAGGAACCAGGTACACCAAATCACTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGA... |
Task1_train_1298 | Located on Chromosome 1, this mutation impacts ABCA4 (ATP binding cassette subfamily A member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinal dystrophy | CTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAG... | CTGCATTGGAGACACCCTGATTTTTCAAGGTCTCCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAG... |
Task1_train_1299 | This sequence change occurs on Chromosome 1, altering ABCA4 (ATP binding cassette subfamily A member 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cone-rod dystrophy 3 | CCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGT... | CCTTCAGTCGCAACTCCTTCTCCAAGACGATGCTCTTCACAGTCATGGAGACAGAGTAGATCCATGCCAGCACCATGAAGATAGGGAAACAGCGGTTCAGGATGATCATGAAACTAAAGCAAAAGGAGAGAAGCAGAATAGTAGAGTGCTCTGTACCTGGTAGAGGCAGAATAAATGTTTGTTGAATGAATGTGTTGAGAACAAAGCCCAGATGGAGGGAAAGGAAAACAGGAAAACCTCCCCTGGACATTTAATGGGCTGGAATCTTTTAACACATTCCATGTTAGCCCTGAAGCATTATTTTTTGTTTATAGCAGAGT... |
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