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_2300 | Here is a mutation in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Retinitis pigmentosa 12 | ATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAG... | ATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAG... |
Task1_train_2301 | Gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Leber congenital amaurosis 8 | ATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAG... | ATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAG... |
Task1_train_2302 | This variant affects the gene CRB1 (crumbs cell polarity complex component 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Retinal dystrophy | ATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAG... | ATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAG... |
Task1_train_2303 | Gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Leber congenital amaurosis 8 | ATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAG... | ATGCCCAAGGACTTACTTCTTGGACCTCTCATTTTCTCTATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAG... |
Task1_train_2304 | This is a variant in CRB1 (crumbs cell polarity complex component 1), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Retinal dystrophy | TATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTT... | TATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTT... |
Task1_train_2305 | This is a variant in CRB1 (crumbs cell polarity complex component 1), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Retinitis pigmentosa 12 | TATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTT... | TATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTT... |
Task1_train_2306 | Given this variant in gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Leber congenital amaurosis 8 | TATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTT... | TATATATACTCATTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTT... |
Task1_train_2307 | The gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Leber congenital amaurosis 8 | TTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAG... | TTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAG... |
Task1_train_2308 | A mutation found in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Retinitis pigmentosa 12 | TTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAG... | TTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAG... |
Task1_train_2309 | The following genetic variant occurs in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Leber congenital amaurosis 8 | TTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAG... | TTCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAG... |
Task1_train_2310 | With a mutation on Chromosome 1 in gene CRB1 (crumbs cell polarity complex component 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Retinitis pigmentosa 12 | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... |
Task1_train_2311 | A genetic alteration is present in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Pigmented paravenous retinochoroidal atrophy | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... |
Task1_train_2312 | This alteration in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Leber congenital amaurosis 8 | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... |
Task1_train_2313 | Consider this mutation in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Retinitis pigmentosa 12 | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... |
Task1_train_2314 | Here is a mutation in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Leber congenital amaurosis 8 | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... |
Task1_train_2315 | A genetic alteration is present in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Leber congenital amaurosis 8 | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... | TCTCTTGGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGG... |
Task1_train_2316 | A sequence alteration has been identified in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Leber congenital amaurosis 8 | GGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGGCCCAAA... | GGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGGCCCAAA... |
Task1_train_2317 | Given this context: Chromosome 1, gene CRB1 (crumbs cell polarity complex component 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Retinal dystrophy | GGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGGCCCAAA... | GGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGGCCCAAA... |
Task1_train_2318 | Given this variant in gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Leber congenital amaurosis 8 | GGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGGCCCAAA... | GGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGGCCCAAA... |
Task1_train_2319 | The gene CRB1 (crumbs cell polarity complex component 1), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Retinitis pigmentosa 12 | GGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGGCCCAAA... | GGTGATCTCATCCAGTCTTGTGGCTCTAAATATCTAATATGGTTTGGATGTATGCCCCCTCCAAATCTCATGTTGAAATGTGATTCCCAATGTTGAAGGTGGGGCCGATGGAAGGTGGTATATACTAACAAATCCCACATTATCAGAACATCCTGCCTGAACCTCTATATCAACTGCCCACTAGTCACTTCTGCTTGGATATCCAAAAAGGCATCTCAAATTTAATATGGACTCCCACCTCACCCAAAAATCTTTTCCTCCAGTTTTCTTCCGTATCTCTGCAAATAGAAAGTCCATGCTTCCAGTTGCTTAGGCCCAAA... |
Task1_train_2320 | This gene mutation involves CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Retinitis pigmentosa 12 | TTTTTTCTCCTCCTCCTCTATTTTGACATTGAAGAGTATGTGGCAGGCAGATTTGGCCAGGATGACTCCACTGGTTATGTCATCTTTACTCTTGATGAGAGCTATGGAGACACCATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAAT... | TTTTTTCTCCTCCTCCTCTATTTTGACATTGAAGAGTATGTGGCAGGCAGATTTGGCCAGGATGACTCCACTGGTTATGTCATCTTTACTCTTGATGAGAGCTATGGAGACACCATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAAT... |
Task1_train_2321 | The gene CRB1 (crumbs cell polarity complex component 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Leber congenital amaurosis 8 | TTTTTTCTCCTCCTCCTCTATTTTGACATTGAAGAGTATGTGGCAGGCAGATTTGGCCAGGATGACTCCACTGGTTATGTCATCTTTACTCTTGATGAGAGCTATGGAGACACCATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAAT... | TTTTTTCTCCTCCTCCTCTATTTTGACATTGAAGAGTATGTGGCAGGCAGATTTGGCCAGGATGACTCCACTGGTTATGTCATCTTTACTCTTGATGAGAGCTATGGAGACACCATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAAT... |
Task1_train_2322 | Consider this mutation in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Retinitis pigmentosa 12 | TCTCCTCCTCCTCTATTTTGACATTGAAGAGTATGTGGCAGGCAGATTTGGCCAGGATGACTCCACTGGTTATGTCATCTTTACTCTTGATGAGAGCTATGGAGACACCATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAAC... | TCTCCTCCTCCTCTATTTTGACATTGAAGAGTATGTGGCAGGCAGATTTGGCCAGGATGACTCCACTGGTTATGTCATCTTTACTCTTGATGAGAGCTATGGAGACACCATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAAC... |
Task1_train_2323 | This sequence change occurs on Chromosome 1, altering CRB1 (crumbs cell polarity complex component 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Leber congenital amaurosis 8 | ACTCTTGATGAGAGCTATGGAGACACCATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGG... | ACTCTTGATGAGAGCTATGGAGACACCATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGG... |
Task1_train_2324 | Mutation context: Chromosome 1, Gene CRB1 (crumbs cell polarity complex component 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Retinitis pigmentosa | ACTCTTGATGAGAGCTATGGAGACACCATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGG... | ACTCTTGATGAGAGCTATGGAGACACCATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGG... |
Task1_train_2325 | Mutation context: Chromosome 1, Gene CRB1 (crumbs cell polarity complex component 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Leber congenital amaurosis | CATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAAC... | CATCAGCCTCTCCATGTTTGTCCGAACGCTTCAACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAAC... |
Task1_train_2326 | This variant affects the gene CRB1 (crumbs cell polarity complex component 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Retinitis pigmentosa 12 | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... |
Task1_train_2327 | This variant affects the gene CRB1 (crumbs cell polarity complex component 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Leber congenital amaurosis 8 | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... |
Task1_train_2328 | The following genetic variant occurs in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Leber congenital amaurosis 1 | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... |
Task1_train_2329 | An alteration has been detected in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinitis pigmentosa 12 | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... |
Task1_train_2330 | This mutation is located in gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Leber congenital amaurosis 8 | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... |
Task1_train_2331 | Assess the clinical impact of this variant on gene CRB1 (crumbs cell polarity complex component 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Pigmented paravenous retinochoroidal atrophy | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... |
Task1_train_2332 | This variant affects gene CRB1 (crumbs cell polarity complex component 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... |
Task1_train_2333 | A genomic change on Chromosome 1 affects CRB1 (crumbs cell polarity complex component 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Retinitis pigmentosa 12 | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... |
Task1_train_2334 | A variant has been detected on Chromosome 1 in CRB1 (crumbs cell polarity complex component 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Pigmented paravenous retinochoroidal atrophy | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... |
Task1_train_2335 | Chromosome 1 houses a mutation in gene CRB1 (crumbs cell polarity complex component 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Leber congenital amaurosis 8 | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... | ACCATCAGGCTTACTTCTAGCTTTGGAAAACAGCACTTATCAATATATCCGTGTCTGGCTAGAGCGCGGCAGACTAGCAATGCTGACTCCAAACTCTCCCAAATTAGTAGTAAAATTTGTTCTTAATGATGGAAATGTCCACTTGATATCTTTGAAAATCAAGCCATATAAAATTGAACTGTATCAGTCTTCACAAAACCTAGGATTTATTTCTGCTTCTACGTGGAAAATCGAAAAGGGAGATGTCATCTACATTGGTGGCCTACCTGACAAGCAAGAGACTGAACTTAATGGTGGATTCTTCAAAGGCTGTATCCAAG... |
Task1_train_2336 | A variant was discovered on Chromosome 1, affecting CRB1 (crumbs cell polarity complex component 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinitis pigmentosa 12 | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... |
Task1_train_2337 | A sequence alteration has been identified in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Pigmented paravenous retinochoroidal atrophy | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... |
Task1_train_2338 | This variant affects gene CRB1 (crumbs cell polarity complex component 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Leber congenital amaurosis 8 | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... |
Task1_train_2339 | A variant was discovered on Chromosome 1, affecting CRB1 (crumbs cell polarity complex component 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinitis pigmentosa 12 | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... |
Task1_train_2340 | This is a variant in CRB1 (crumbs cell polarity complex component 1), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Retinitis pigmentosa 12 | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... |
Task1_train_2341 | This gene mutation involves CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Leber congenital amaurosis 8 | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... |
Task1_train_2342 | A variant has been detected on Chromosome 1 in CRB1 (crumbs cell polarity complex component 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Retinal dystrophy | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... |
Task1_train_2343 | Located on Chromosome 1, this mutation impacts CRB1 (crumbs cell polarity complex component 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pigmented paravenous retinochoroidal atrophy | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... |
Task1_train_2344 | This sequence variant lies in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Leber congenital amaurosis 8 | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... | AGCGATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCA... |
Task1_train_2345 | This mutation occurs in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinal dystrophy | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... |
Task1_train_2346 | A variant found in Chromosome 1 affects CRB1 (crumbs cell polarity complex component 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Retinitis pigmentosa 12 | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... |
Task1_train_2347 | Given this variant in gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Leber congenital amaurosis 8 | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... |
Task1_train_2348 | With a mutation on Chromosome 1 in gene CRB1 (crumbs cell polarity complex component 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pigmented paravenous retinochoroidal atrophy | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... |
Task1_train_2349 | A mutation on Chromosome 1 affecting CRB1 (crumbs cell polarity complex component 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinitis pigmentosa 12 | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... |
Task1_train_2350 | Consider this mutation in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Leber congenital amaurosis 8 | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... | GATATTAACACTAAGAAAAGCCAAGTATAAGAAGATCTGGGGAAATAATATTCTTGGTATAAGTAACAGCAAGTATAAAAGGCCTGCGCTGGGAACAAGCTTGGTGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCC... |
Task1_train_2351 | Here is a genetic alteration in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinal dystrophy | TGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGC... | TGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGC... |
Task1_train_2352 | The following genetic variant occurs in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Leber congenital amaurosis 8 | TGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGC... | TGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGC... |
Task1_train_2353 | This is a variant in CRB1 (crumbs cell polarity complex component 1), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Leber congenital amaurosis 8 | TGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGC... | TGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGC... |
Task1_train_2354 | Assess the clinical impact of this variant on gene CRB1 (crumbs cell polarity complex component 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Retinitis pigmentosa 12 | TGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGC... | TGTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGC... |
Task1_train_2355 | A variant has been detected on Chromosome 1 in CRB1 (crumbs cell polarity complex component 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Retinal dystrophy | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... |
Task1_train_2356 | A variant was discovered in gene CRB1 (crumbs cell polarity complex component 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Leber congenital amaurosis 8 | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... |
Task1_train_2357 | This gene mutation involves CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Retinitis pigmentosa 12 | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... |
Task1_train_2358 | The gene CRB1 (crumbs cell polarity complex component 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; CRB1-related disorder | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... |
Task1_train_2359 | This alteration in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Leber congenital amaurosis 8 | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... |
Task1_train_2360 | A variant was discovered in gene CRB1 (crumbs cell polarity complex component 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinitis pigmentosa 12 | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... |
Task1_train_2361 | A change on Chromosome 1 affects gene CRB1 (crumbs cell polarity complex component 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pigmented paravenous retinochoroidal atrophy | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... |
Task1_train_2362 | The variant affects gene CRB1 (crumbs cell polarity complex component 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pigmented paravenous retinochoroidal atrophy | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... |
Task1_train_2363 | This genomic variant is located on Chromosome 1, within the CRB1 (crumbs cell polarity complex component 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Leber congenital amaurosis 8 | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... |
Task1_train_2364 | Here’s a variant in CRB1 (crumbs cell polarity complex component 1) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Retinitis pigmentosa 12 | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... | GTATCTTCAATGAATGGCAAGAAATTGTGGCTGTGGCCTGTGAATGAATTGGAATTGGAGAGTTAATCAGGGGCCAGATCATGTAGATGCTTTTTTTTTTAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCT... |
Task1_train_2365 | The gene CRB1 (crumbs cell polarity complex component 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinitis pigmentosa 12 | TAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAG... | TAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAG... |
Task1_train_2366 | With a mutation on Chromosome 1 in gene CRB1 (crumbs cell polarity complex component 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Leber congenital amaurosis 8 | TAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAG... | TAACATGGCAAAATTTTGTCATGAATTTTTTTTTTTTTTGAAGAGAGACGGGGTCTTATTATGTTGCCCAGGATAGTCTCAAACTGCTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAG... |
Task1_train_2367 | Here is a mutation in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Leber congenital amaurosis 8 | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... |
Task1_train_2368 | This gene mutation involves CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Retinitis pigmentosa 12 | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... |
Task1_train_2369 | Given this context: Chromosome 1, gene CRB1 (crumbs cell polarity complex component 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Leber congenital amaurosis 8 | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... |
Task1_train_2370 | A variant has been detected on Chromosome 1 in CRB1 (crumbs cell polarity complex component 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Retinitis pigmentosa 12 | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... |
Task1_train_2371 | This sequence variant lies in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pigmented paravenous retinochoroidal atrophy | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... |
Task1_train_2372 | This variant affects gene CRB1 (crumbs cell polarity complex component 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... |
Task1_train_2373 | A change on Chromosome 1 affects gene CRB1 (crumbs cell polarity complex component 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Pigmented paravenous retinochoroidal atrophy | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... |
Task1_train_2374 | Given this variant in gene CRB1 (crumbs cell polarity complex component 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Leber congenital amaurosis 8 | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... |
Task1_train_2375 | A genetic alteration is present in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Retinitis pigmentosa 12 | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... | CTGACTTCAAGCTATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATT... |
Task1_train_2376 | This genomic variant is located on Chromosome 1, within the CRB1 (crumbs cell polarity complex component 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Retinitis pigmentosa 12 | ATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAG... | ATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAG... |
Task1_train_2377 | Here is a variant affecting CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Leber congenital amaurosis 8 | ATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAG... | ATCCACCCTCCTCAGCCTCCCAGATAGCTGAGATTATACCCACAACTGGCTCAGATCATGTACACTCTTGTGGTTATGTTTAGAATTTAGGATTTCTTTTAAAGATGATAACTAATGGAGCTTGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAG... |
Task1_train_2378 | A genomic change on Chromosome 1 affects CRB1 (crumbs cell polarity complex component 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Retinal dystrophy | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... |
Task1_train_2379 | A change on Chromosome 1 affects gene CRB1 (crumbs cell polarity complex component 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Leber congenital amaurosis 8 | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... |
Task1_train_2380 | Here is a variant affecting CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Retinitis pigmentosa 12 | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... |
Task1_train_2381 | Here is a variant affecting CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Leber congenital amaurosis 8 | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... |
Task1_train_2382 | Located on Chromosome 1, this mutation impacts CRB1 (crumbs cell polarity complex component 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinitis pigmentosa 12 | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... |
Task1_train_2383 | Consider this mutation in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Leber congenital amaurosis 8 | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... |
Task1_train_2384 | Consider a variant on Chromosome 1 in gene CRB1 (crumbs cell polarity complex component 1). Determine its clinical classification and disease relevance. | Pathogenic; Pigmented paravenous retinochoroidal atrophy | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... | TGACTAAGGAGTGGTTGTTATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTA... |
Task1_train_2385 | The variant affects gene CRB1 (crumbs cell polarity complex component 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinitis pigmentosa 12 | TATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAA... | TATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAA... |
Task1_train_2386 | This variant affects the gene CRB1 (crumbs cell polarity complex component 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Leber congenital amaurosis 8 | TATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAA... | TATATTGATCTGCAGAGCAGTAGAAGCAGGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAA... |
Task1_train_2387 | This variant lies on Chromosome 1 and affects the gene CRB1 (crumbs cell polarity complex component 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Retinal dystrophy | GGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGG... | GGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGG... |
Task1_train_2388 | The variant affects gene CRB1 (crumbs cell polarity complex component 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Retinitis pigmentosa 12 | GGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGG... | GGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGG... |
Task1_train_2389 | An alteration has been detected in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Leber congenital amaurosis 8 | GGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGG... | GGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGG... |
Task1_train_2390 | A mutation found in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Leber congenital amaurosis 8 | GGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGG... | GGGACACTAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGG... |
Task1_train_2391 | This alteration in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Retinitis pigmentosa 12 | TAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGGGATGTCA... | TAAGAAGTAATTAGTCTTAATGAAAGATGATGGTGGTTGGGTGTAGTGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGGGATGTCA... |
Task1_train_2392 | A variant was discovered in gene CRB1 (crumbs cell polarity complex component 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinal dystrophy | TGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGGGATGTCAGGATACTGTTTCGTGTGTATTTTTATTTTTTAAGATTAAAGCAATT... | TGCCTGATAATGTATTAATAGTGTTTTCAGGTCATTTGCTACTGAAAAGTGTGATACAATAAAAGTAGATAATTGGCCACTGCATTGAGTAACATGGAGGTCATTCATTGTAACCATGAAAGTGGTTTTAGTGAAGTGACTGGGACAAAAGCTTGAGTGGCATATATAAAAGAGAAAAATGAGGAATAATAGAGTGAGACCATGGGGATATAAAATTAGTAAGTTTTGCTGGTAAAGAAAATAGACAAAAAAGCAGCAGGATTGGGGGATGTCAGGATACTGTTTCGTGTGTATTTTTATTTTTTAAGATTAAAGCAATT... |
Task1_train_2393 | A variant was discovered on Chromosome 1, affecting CRB1 (crumbs cell polarity complex component 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leber congenital amaurosis 8 | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... |
Task1_train_2394 | A variant on Chromosome 1 in gene CRB1 (crumbs cell polarity complex component 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Pigmented paravenous retinochoroidal atrophy | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... |
Task1_train_2395 | An alteration has been detected in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Retinitis pigmentosa 12 | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... |
Task1_train_2396 | This variant lies on Chromosome 1 and affects the gene CRB1 (crumbs cell polarity complex component 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pigmented paravenous retinochoroidal atrophy | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... |
Task1_train_2397 | A mutation in CRB1 (crumbs cell polarity complex component 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Retinitis pigmentosa 12 | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... |
Task1_train_2398 | A genetic alteration is present in CRB1 (crumbs cell polarity complex component 1) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Leber congenital amaurosis 8 | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... |
Task1_train_2399 | A mutation in CRB1 (crumbs cell polarity complex component 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Leber congenital amaurosis 8 | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... | AAACAAGAATGAGTGAATGAATTTATTAATAAATACAAAACTGTTTAATATCCCATAGGGCAAGAAAACTAGTATTTGAAGTCATCTTCAATACTGTGATAATCATTTGTATGGCTCACTACAGATAAACTAATTTGCATTTTGACGAACAAGATTTTCATATTAATATTGTTTTCTACAACTTACAGAATTGTAATAAGGCACAGACCACTGCAAAAGTGGATAATCCTGGATAGTCCTTTATGTAAACCCAGCAGTGCATTGAAAGAATATGCAGTGATTTTTTTTGCCCATTTCAAAGTATTTCACATTTTTCTACA... |
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