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_9400 | A mutation on Chromosome 5 affecting LMNB1 (lamin B1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Inborn genetic diseases | CATTAATTACAGAAGCGTTCCTAATAGGTGGTAAGGTGGTCATCTAGGGTATAGCTAAGGGCCAGACTCGAGTCAATTAGAATCCTGGGACCTGTCAAACGCAGTCCTGCGGAGCAGCCTTCAGACAGTGAATCTATAAAATGGATGGTTTCTTTCTTTCTTTTTTGAGACGGGGTCTCCCTGTCACCCAGGCTGGAGTGTAATGGTGCCATCTCGGCTCACTGCAACTTCCCCTTTCCGGGTTCAAGGGATTCTCCCACCTCAGCCTTCCAAGTAGCTGAGATTACAGGCACCCGCCATCATGCCCGGCTAATTTTTGT... | CATTAATTACAGAAGCGTTCCTAATAGGTGGTAAGGTGGTCATCTAGGGTATAGCTAAGGGCCAGACTCGAGTCAATTAGAATCCTGGGACCTGTCAAACGCAGTCCTGCGGAGCAGCCTTCAGACAGTGAATCTATAAAATGGATGGTTTCTTTCTTTCTTTTTTGAGACGGGGTCTCCCTGTCACCCAGGCTGGAGTGTAATGGTGCCATCTCGGCTCACTGCAACTTCCCCTTTCCGGGTTCAAGGGATTCTCCCACCTCAGCCTTCCAAGTAGCTGAGATTACAGGCACCCGCCATCATGCCCGGCTAATTTTTGT... |
Task1_train_9401 | Here is a genetic alteration in LMNB1 (lamin B1) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Microcephaly 26, primary, autosomal dominant | GTGGTAAGGTGGTCATCTAGGGTATAGCTAAGGGCCAGACTCGAGTCAATTAGAATCCTGGGACCTGTCAAACGCAGTCCTGCGGAGCAGCCTTCAGACAGTGAATCTATAAAATGGATGGTTTCTTTCTTTCTTTTTTGAGACGGGGTCTCCCTGTCACCCAGGCTGGAGTGTAATGGTGCCATCTCGGCTCACTGCAACTTCCCCTTTCCGGGTTCAAGGGATTCTCCCACCTCAGCCTTCCAAGTAGCTGAGATTACAGGCACCCGCCATCATGCCCGGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCAT... | GTGGTAAGGTGGTCATCTAGGGTATAGCTAAGGGCCAGACTCGAGTCAATTAGAATCCTGGGACCTGTCAAACGCAGTCCTGCGGAGCAGCCTTCAGACAGTGAATCTATAAAATGGATGGTTTCTTTCTTTCTTTTTTGAGACGGGGTCTCCCTGTCACCCAGGCTGGAGTGTAATGGTGCCATCTCGGCTCACTGCAACTTCCCCTTTCCGGGTTCAAGGGATTCTCCCACCTCAGCCTTCCAAGTAGCTGAGATTACAGGCACCCGCCATCATGCCCGGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCAT... |
Task1_train_9402 | A genomic change on Chromosome 5 affects LMNB1 (lamin B1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Microcephaly 26, primary, autosomal dominant | GGGTCTCCCTGTCACCCAGGCTGGAGTGTAATGGTGCCATCTCGGCTCACTGCAACTTCCCCTTTCCGGGTTCAAGGGATTCTCCCACCTCAGCCTTCCAAGTAGCTGAGATTACAGGCACCCGCCATCATGCCCGGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCCTCCCCCACTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCGCGCCCGCCCGGATGAATTTTCAAATAGAAACAATCCAGTTTCCCACATCACACGG... | GGGTCTCCCTGTCACCCAGGCTGGAGTGTAATGGTGCCATCTCGGCTCACTGCAACTTCCCCTTTCCGGGTTCAAGGGATTCTCCCACCTCAGCCTTCCAAGTAGCTGAGATTACAGGCACCCGCCATCATGCCCGGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGAGCTCAGGTGATCCTCCCCCACTCGGCCTCCCAAAGTGTTGGGATTATAGGCGTGAGCCACCGCGCCCGCCCGGATGAATTTTCAAATAGAAACAATCCAGTTTCCCACATCACACGG... |
Task1_train_9403 | Given this context: Chromosome 5, gene LMNB1 (lamin B1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Microcephaly 26, primary, autosomal dominant | TAATTATTGGGCAAAATATATCCAAATGAACTATAATTTTATAATGTAGAACTCCATTTAAAAAAAAGTGGTTATTTAGAGGCCGGGTGCAGCAGCTCATGCCTGTAATCCCAGCATCTTGGGAAGCTGAGGCTGGCAGATCACTTGAGGCCAGGTGTTCGAGACCAGCCTGGCCAAAATAGGCAAACCCTATCTCTACTACAAATACAAAAAATTATCTCGGCCTAGTACCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAACCACTTGAAACCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGC... | TAATTATTGGGCAAAATATATCCAAATGAACTATAATTTTATAATGTAGAACTCCATTTAAAAAAAAGTGGTTATTTAGAGGCCGGGTGCAGCAGCTCATGCCTGTAATCCCAGCATCTTGGGAAGCTGAGGCTGGCAGATCACTTGAGGCCAGGTGTTCGAGACCAGCCTGGCCAAAATAGGCAAACCCTATCTCTACTACAAATACAAAAAATTATCTCGGCCTAGTACCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAACCACTTGAAACCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGC... |
Task1_train_9404 | Gene LMNB1 (lamin B1) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Syndrome with microcephaly as major feature | TAATTATTGGGCAAAATATATCCAAATGAACTATAATTTTATAATGTAGAACTCCATTTAAAAAAAAGTGGTTATTTAGAGGCCGGGTGCAGCAGCTCATGCCTGTAATCCCAGCATCTTGGGAAGCTGAGGCTGGCAGATCACTTGAGGCCAGGTGTTCGAGACCAGCCTGGCCAAAATAGGCAAACCCTATCTCTACTACAAATACAAAAAATTATCTCGGCCTAGTACCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAACCACTTGAAACCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGC... | TAATTATTGGGCAAAATATATCCAAATGAACTATAATTTTATAATGTAGAACTCCATTTAAAAAAAAGTGGTTATTTAGAGGCCGGGTGCAGCAGCTCATGCCTGTAATCCCAGCATCTTGGGAAGCTGAGGCTGGCAGATCACTTGAGGCCAGGTGTTCGAGACCAGCCTGGCCAAAATAGGCAAACCCTATCTCTACTACAAATACAAAAAATTATCTCGGCCTAGTACCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAACCACTTGAAACCAGGAGGCAGAGGTTGCAATGAGCCGAGATCGC... |
Task1_train_9405 | Here’s a variant in MEGF10 (multiple EGF like domains 10) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Congenital myopathy 10b, mild variant | GTACCCATGCTGCCATTTAACACAGTGTGAGATAGCATCCAGAGCATACCCTGCACTGTTAGACCCAAGCCTACTGTGACATTTAGTTGAACTTCCCACACTCAAGTATGGTAGTTTGCTGGCTTTAGGTATGTACATATCTAAATTTTAACAAAAGACCAGTACCTTGTGCTTACAAATGAATGACATCTACAAGTTCAAACACATACCTACAGGTGGAAGCAGACACTGAACCCTGAAGTTGGCACATACTGACTTAACTTGGCAGCAAAAATCAAAATAGTGCAGGGCCAGTGTGTTCATATGTTACAGGCAAGTTC... | GTACCCATGCTGCCATTTAACACAGTGTGAGATAGCATCCAGAGCATACCCTGCACTGTTAGACCCAAGCCTACTGTGACATTTAGTTGAACTTCCCACACTCAAGTATGGTAGTTTGCTGGCTTTAGGTATGTACATATCTAAATTTTAACAAAAGACCAGTACCTTGTGCTTACAAATGAATGACATCTACAAGTTCAAACACATACCTACAGGTGGAAGCAGACACTGAACCCTGAAGTTGGCACATACTGACTTAACTTGGCAGCAAAAATCAAAATAGTGCAGGGCCAGTGTGTTCATATGTTACAGGCAAGTTC... |
Task1_train_9406 | This sequence change occurs on Chromosome 5, altering MEGF10 (multiple EGF like domains 10). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; MEGF10-related myopathy | AGCCTTCAGTAGGAGCCATAATGAGACCACATTATTGTACTTAAGCATTTATTTCCTTAAAGTTTACATCTTTAAGGAAGAAACTAAATGACTTAGCTTATTGAAGCTTCTTAGAGGTTAAAAATAAAGAGCACCTTTTAAAAATACACTCTGGTCCAAAAATAGGTGTACCCATGTATAACTTTTAGGCACACGTTTTATTTTATGCTGAGTATTAGGTCAATTACTCCATAACTTTTCTAATGGTTTGTTGAGCAGTTGAAGGTTTTACCTGTTAACAAATACACCTGAAGATGTCTAGAATCTGTGAAACTAAATTT... | AGCCTTCAGTAGGAGCCATAATGAGACCACATTATTGTACTTAAGCATTTATTTCCTTAAAGTTTACATCTTTAAGGAAGAAACTAAATGACTTAGCTTATTGAAGCTTCTTAGAGGTTAAAAATAAAGAGCACCTTTTAAAAATACACTCTGGTCCAAAAATAGGTGTACCCATGTATAACTTTTAGGCACACGTTTTATTTTATGCTGAGTATTAGGTCAATTACTCCATAACTTTTCTAATGGTTTGTTGAGCAGTTGAAGGTTTTACCTGTTAACAAATACACCTGAAGATGTCTAGAATCTGTGAAACTAAATTT... |
Task1_train_9407 | Chromosome 5 houses a mutation in gene MEGF10 (multiple EGF like domains 10). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; MEGF10-related myopathy | AAATGGGGCTTCATGCTCCCCTGATGATGGCATCTGCGAGTGTGCACCAGGCTTCCGAGGCACCACTTGTCAGAGGAGTAAGTGTCTCATTAGGCAGTAATTTCCACCTTCCCTTCCCTGGGCACCATGTATCGAATAATGATCTCTGTCCCACCTCTCAGTTTATAGTGATGTCCTGTTGCAGTTGAAGGCAAAAGAGAGTGTAATGGTTCACTTGTCCTTTGCAGAACTGTGTTCCCTAAGAGCTTCATTCTTTCCAGCCTTCAGAACTAACCTAACAGATGGGGATTTAACCATTTCTTCTCAATAATTACTTCATT... | AAATGGGGCTTCATGCTCCCCTGATGATGGCATCTGCGAGTGTGCACCAGGCTTCCGAGGCACCACTTGTCAGAGGAGTAAGTGTCTCATTAGGCAGTAATTTCCACCTTCCCTTCCCTGGGCACCATGTATCGAATAATGATCTCTGTCCCACCTCTCAGTTTATAGTGATGTCCTGTTGCAGTTGAAGGCAAAAGAGAGTGTAATGGTTCACTTGTCCTTTGCAGAACTGTGTTCCCTAAGAGCTTCATTCTTTCCAGCCTTCAGAACTAACCTAACAGATGGGGATTTAACCATTTCTTCTCAATAATTACTTCATT... |
Task1_train_9408 | A variant was discovered on Chromosome 5, affecting MEGF10 (multiple EGF like domains 10). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital myopathy 10b, mild variant | TCCCAGAGGTCAGGCCTCCCTGGGATCATCGCTGGTTACTCACTGCTCTGGGCGGAGGAGGTGTGACTACAAGAATGAAGACAGAATTCAAGTTTTCCATTCTGTTCTTTTGGGCTCTCCCTTCCTCTCCTTCTTATTTTTGGAATGTGGCTGCTCAGAGCCTTAAAAGATCCAGTCGAGCTTTCTTCATGGCAGAGGCAGAACCCGGGTCTCACATTGGAGGACAGTACATTCGGTGGGGAGGAGGGCTGGTGGCCCAGGGCCAATCCCTGTTGCTGGTGAGGGAACACATCCATGCAAACATTGCCACCCTTTCAACA... | TCCCAGAGGTCAGGCCTCCCTGGGATCATCGCTGGTTACTCACTGCTCTGGGCGGAGGAGGTGTGACTACAAGAATGAAGACAGAATTCAAGTTTTCCATTCTGTTCTTTTGGGCTCTCCCTTCCTCTCCTTCTTATTTTTGGAATGTGGCTGCTCAGAGCCTTAAAAGATCCAGTCGAGCTTTCTTCATGGCAGAGGCAGAACCCGGGTCTCACATTGGAGGACAGTACATTCGGTGGGGAGGAGGGCTGGTGGCCCAGGGCCAATCCCTGTTGCTGGTGAGGGAACACATCCATGCAAACATTGCCACCCTTTCAACA... |
Task1_train_9409 | The following genetic variant occurs in SLC12A2 (solute carrier family 12 member 2) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Delpire-McNeill syndrome | TTTGGAATTATTAAAATGGATTTACTGTCATAGTGAGACTTAAATTTTAAGAAATTTCAGTAATTAAGGTTTTCTTCTAGTTTATTGTTTTGTCCTTTCCTGGGGTAAAATATTTGGAAACCCTTGATTCTTGGAAATCTGTACTATGCCCTCTTAAATATGGTTAGATGTATTTAGTTATGTTTGTTTTTATCAAGTGATTTTAAATTTTAAATGTTAAGCATAATTCATATTTCTTTTTATAACCAGGAACCTTTTGAGGATGGCTTTGCAAATGGGGAAGAAAGTACTCCAACCAGAGATGCTGTGGTCACGTATAC... | TTTGGAATTATTAAAATGGATTTACTGTCATAGTGAGACTTAAATTTTAAGAAATTTCAGTAATTAAGGTTTTCTTCTAGTTTATTGTTTTGTCCTTTCCTGGGGTAAAATATTTGGAAACCCTTGATTCTTGGAAATCTGTACTATGCCCTCTTAAATATGGTTAGATGTATTTAGTTATGTTTGTTTTTATCAAGTGATTTTAAATTTTAAATGTTAAGCATAATTCATATTTCTTTTTATAACCAGGAACCTTTTGAGGATGGCTTTGCAAATGGGGAAGAAAGTACTCCAACCAGAGATGCTGTGGTCACGTATAC... |
Task1_train_9410 | The variant affects gene SLC12A2 (solute carrier family 12 member 2), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Delpire-McNeill syndrome | ATATTTCTGATTCTAAAGTTTGTATTGTCAACTACTAAAGACAAGAGTGTTGACTAATTTCAATAACTTTTCTTTGTGACTTCATTTTCTCATCTATAAAATCAGGATATACTTTGTTTTAATTCATTTTTGCTATTGGGAGTAGATGAAATAATTCATTAATTTTTAAAACATACGTTAGATAAAGGCTGATAATTATACTATTGTAGGGATTTTACTTGTGATTAATTATAATGTGATGTAATATAGTCAAAGATCTTTGACAAAATTGTCATTATATAAATTAATTGGAGTTTTTAGTGTTCAAGAATATTTCGTGG... | ATATTTCTGATTCTAAAGTTTGTATTGTCAACTACTAAAGACAAGAGTGTTGACTAATTTCAATAACTTTTCTTTGTGACTTCATTTTCTCATCTATAAAATCAGGATATACTTTGTTTTAATTCATTTTTGCTATTGGGAGTAGATGAAATAATTCATTAATTTTTAAAACATACGTTAGATAAAGGCTGATAATTATACTATTGTAGGGATTTTACTTGTGATTAATTATAATGTGATGTAATATAGTCAAAGATCTTTGACAAAATTGTCATTATATAAATTAATTGGAGTTTTTAGTGTTCAAGAATATTTCGTGG... |
Task1_train_9411 | Given this variant in gene SLC12A2 (solute carrier family 12 member 2) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hearing loss, autosomal dominant 78 | GACTTCCAAATCTTACTCTCCCACCCTCACTCTCCTACCTCTGTTCAGTCTAGTATCTCCATCTGTCCTATTCCCAGCTGACACGCAACAAGAAAATAATCTGCGCTGTGAATCATCAAACTGTAACATACTTTTGATTCCTGCAAAATATTTCCCATTCTTTTTCTGAAATTGTAACCTTGGACCAATCATGTCTCTGTACAGTTTATCTCTTCTATATTATTTAGAAGCAGTAATGTTGCTTTTTATTTCTTTCCTTCTCATTTACCTTGTTGGCTTAGAGTATTAGTAAAGTTTAGTTCACACCCATTTTCCTTTTC... | GACTTCCAAATCTTACTCTCCCACCCTCACTCTCCTACCTCTGTTCAGTCTAGTATCTCCATCTGTCCTATTCCCAGCTGACACGCAACAAGAAAATAATCTGCGCTGTGAATCATCAAACTGTAACATACTTTTGATTCCTGCAAAATATTTCCCATTCTTTTTCTGAAATTGTAACCTTGGACCAATCATGTCTCTGTACAGTTTATCTCTTCTATATTATTTAGAAGCAGTAATGTTGCTTTTTATTTCTTTCCTTCTCATTTACCTTGTTGGCTTAGAGTATTAGTAAAGTTTAGTTCACACCCATTTTCCTTTTC... |
Task1_train_9412 | This variant affects the gene SLC12A2 (solute carrier family 12 member 2) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Sensorineural hearing loss disorder | CCTCACTCTCCTACCTCTGTTCAGTCTAGTATCTCCATCTGTCCTATTCCCAGCTGACACGCAACAAGAAAATAATCTGCGCTGTGAATCATCAAACTGTAACATACTTTTGATTCCTGCAAAATATTTCCCATTCTTTTTCTGAAATTGTAACCTTGGACCAATCATGTCTCTGTACAGTTTATCTCTTCTATATTATTTAGAAGCAGTAATGTTGCTTTTTATTTCTTTCCTTCTCATTTACCTTGTTGGCTTAGAGTATTAGTAAAGTTTAGTTCACACCCATTTTCCTTTTCAGTTCTTTGCTGACTTGATTATAA... | CCTCACTCTCCTACCTCTGTTCAGTCTAGTATCTCCATCTGTCCTATTCCCAGCTGACACGCAACAAGAAAATAATCTGCGCTGTGAATCATCAAACTGTAACATACTTTTGATTCCTGCAAAATATTTCCCATTCTTTTTCTGAAATTGTAACCTTGGACCAATCATGTCTCTGTACAGTTTATCTCTTCTATATTATTTAGAAGCAGTAATGTTGCTTTTTATTTCTTTCCTTCTCATTTACCTTGTTGGCTTAGAGTATTAGTAAAGTTTAGTTCACACCCATTTTCCTTTTCAGTTCTTTGCTGACTTGATTATAA... |
Task1_train_9413 | This mutation is located in gene FBN2 (fibrillin 2) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Congenital contractural arachnodactyly | AACGAATGACTTTTATAGTGCAGCATGTGCTATGTATTCTGCTTCCAGGTGGAGCTTGTTCCAGCCCTTGTTGTGGTTTCATTTACTGTGGTTGATCCAACTTGAAAATGAGTTGGAATCCTGGTGACCCACCTTGGCAGGATCTGCTGTCTGAGGCTGGAGTGAAGCCCATCTCACACTCGCAGCGATATGCACCCGGGACATTAAGGCACTGTCCGTTCTCACAGAGGTTTATGTTTTCTGCACACTCATCAACATCTGTGCAAAAAAGCAAATTACATCTCTGTTAAGTTCCAAATTTCATGACACATTTTCTCCTT... | AACGAATGACTTTTATAGTGCAGCATGTGCTATGTATTCTGCTTCCAGGTGGAGCTTGTTCCAGCCCTTGTTGTGGTTTCATTTACTGTGGTTGATCCAACTTGAAAATGAGTTGGAATCCTGGTGACCCACCTTGGCAGGATCTGCTGTCTGAGGCTGGAGTGAAGCCCATCTCACACTCGCAGCGATATGCACCCGGGACATTAAGGCACTGTCCGTTCTCACAGAGGTTTATGTTTTCTGCACACTCATCAACATCTGTGCAAAAAAGCAAATTACATCTCTGTTAAGTTCCAAATTTCATGACACATTTTCTCCTT... |
Task1_train_9414 | This mutation occurs in FBN2 (fibrillin 2) on Chromosome 5. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Congenital contractural arachnodactyly | TCTTGCAACTAAGATAACCTTTTTATAAAGGAATTAATAAAAGTGAAGAGCATGATTCTACAACCATGCAAAAAAGAGCCTTTAAAAATTTGTGCCTTAGCAAAGGATATTTACATTTGCAAACTCACCAATACACTTGATGCCGTTTCCAATCCAGCCTTCTCTGCAGCTACACTTGAAGCTTCCTGGGATATTCAGACATGAGGCATGCATGTCGCAGTTATGAGCACCAATTTCACACTCATCCACATCTGATAAACCATAATTCATAAGAAGAAAATCAAAATACAAACTAATTAATTCTACTTCCAAGTATATTT... | TCTTGCAACTAAGATAACCTTTTTATAAAGGAATTAATAAAAGTGAAGAGCATGATTCTACAACCATGCAAAAAAGAGCCTTTAAAAATTTGTGCCTTAGCAAAGGATATTTACATTTGCAAACTCACCAATACACTTGATGCCGTTTCCAATCCAGCCTTCTCTGCAGCTACACTTGAAGCTTCCTGGGATATTCAGACATGAGGCATGCATGTCGCAGTTATGAGCACCAATTTCACACTCATCCACATCTGATAAACCATAATTCATAAGAAGAAAATCAAAATACAAACTAATTAATTCTACTTCCAAGTATATTT... |
Task1_train_9415 | A variant was discovered in gene FBN2 (fibrillin 2), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Congenital contractural arachnodactyly | AAGATGCAACCGTATGGAGAAAAGAGTAGCCTAACTAACTTTTATTTTTAATTTTTGTAGGCTCCAAGAGGACTTGGAAAATTCATGATCCTAATAAAACAAGTTCTTCCCTAGAAACAACTGTCAGCCACTTTCCAGTAGAAGAGAGAGAGACACAGCAGTGTTGCTCCCCGGCAGGTATGTGTATTATCCTGGGGCCTTCTTCCCTGCCCAGATTCAGACACAACACCATAAAGAGGACATTCGATTACAGATCAAGAGAAATCTTATTTCCAATAATAGATGGTGCTATTCCTTCCTATTGATATTTATTACATATT... | AAGATGCAACCGTATGGAGAAAAGAGTAGCCTAACTAACTTTTATTTTTAATTTTTGTAGGCTCCAAGAGGACTTGGAAAATTCATGATCCTAATAAAACAAGTTCTTCCCTAGAAACAACTGTCAGCCACTTTCCAGTAGAAGAGAGAGAGACACAGCAGTGTTGCTCCCCGGCAGGTATGTGTATTATCCTGGGGCCTTCTTCCCTGCCCAGATTCAGACACAACACCATAAAGAGGACATTCGATTACAGATCAAGAGAAATCTTATTTCCAATAATAGATGGTGCTATTCCTTCCTATTGATATTTATTACATATT... |
Task1_train_9416 | A variant was discovered on Chromosome 5, affecting FBN2 (fibrillin 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital contractural arachnodactyly | AAAAAAGTAATAGTTTATTCTCTTTAAAATTACATGATCATTTGTCATTTAAAAAATCAATATAAATATTTTACAGAATTTAAAAAAAACTATTCATTTAGGTGTATATTTTTATTTCTTCTACTTATTTGAGATTATAGAAAAATATTCACTGGGAATGTTATCTGGAAAGTAGCCAGATGCTTTCGCCAGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTATTTGTGTGTCTGTATACACACACACATATCCCTATATATGTATGTATAACCTATGTAGATTTGGTTCTCCAAAGCTTTCTTGACTATAAATAGTAATG... | AAAAAAGTAATAGTTTATTCTCTTTAAAATTACATGATCATTTGTCATTTAAAAAATCAATATAAATATTTTACAGAATTTAAAAAAAACTATTCATTTAGGTGTATATTTTTATTTCTTCTACTTATTTGAGATTATAGAAAAATATTCACTGGGAATGTTATCTGGAAAGTAGCCAGATGCTTTCGCCAGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTATTTGTGTGTCTGTATACACACACACATATCCCTATATATGTATGTATAACCTATGTAGATTTGGTTCTCCAAAGCTTTCTTGACTATAAATAGTAATG... |
Task1_train_9417 | The gene FBN2 (fibrillin 2) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Congenital contractural arachnodactyly | AATAGTTTATTCTCTTTAAAATTACATGATCATTTGTCATTTAAAAAATCAATATAAATATTTTACAGAATTTAAAAAAAACTATTCATTTAGGTGTATATTTTTATTTCTTCTACTTATTTGAGATTATAGAAAAATATTCACTGGGAATGTTATCTGGAAAGTAGCCAGATGCTTTCGCCAGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTATTTGTGTGTCTGTATACACACACACATATCCCTATATATGTATGTATAACCTATGTAGATTTGGTTCTCCAAAGCTTTCTTGACTATAAATAGTAATGTGTTCTAT... | AATAGTTTATTCTCTTTAAAATTACATGATCATTTGTCATTTAAAAAATCAATATAAATATTTTACAGAATTTAAAAAAAACTATTCATTTAGGTGTATATTTTTATTTCTTCTACTTATTTGAGATTATAGAAAAATATTCACTGGGAATGTTATCTGGAAAGTAGCCAGATGCTTTCGCCAGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTATTTGTGTGTCTGTATACACACACACATATCCCTATATATGTATGTATAACCTATGTAGATTTGGTTCTCCAAAGCTTTCTTGACTATAAATAGTAATGTGTTCTAT... |
Task1_train_9418 | Here’s a variant in FBN2 (fibrillin 2) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Congenital contractural arachnodactyly | TCTCTTTAAAATTACATGATCATTTGTCATTTAAAAAATCAATATAAATATTTTACAGAATTTAAAAAAAACTATTCATTTAGGTGTATATTTTTATTTCTTCTACTTATTTGAGATTATAGAAAAATATTCACTGGGAATGTTATCTGGAAAGTAGCCAGATGCTTTCGCCAGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTATTTGTGTGTCTGTATACACACACACATATCCCTATATATGTATGTATAACCTATGTAGATTTGGTTCTCCAAAGCTTTCTTGACTATAAATAGTAATGTGTTCTATCTAGTTCAAC... | TCTCTTTAAAATTACATGATCATTTGTCATTTAAAAAATCAATATAAATATTTTACAGAATTTAAAAAAAACTATTCATTTAGGTGTATATTTTTATTTCTTCTACTTATTTGAGATTATAGAAAAATATTCACTGGGAATGTTATCTGGAAAGTAGCCAGATGCTTTCGCCAGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTATTTGTGTGTCTGTATACACACACACATATCCCTATATATGTATGTATAACCTATGTAGATTTGGTTCTCCAAAGCTTTCTTGACTATAAATAGTAATGTGTTCTATCTAGTTCAAC... |
Task1_train_9419 | Chromosome 5 houses a mutation in gene FBN2 (fibrillin 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Congenital contractural arachnodactyly | TTGTCATTTAAAAAATCAATATAAATATTTTACAGAATTTAAAAAAAACTATTCATTTAGGTGTATATTTTTATTTCTTCTACTTATTTGAGATTATAGAAAAATATTCACTGGGAATGTTATCTGGAAAGTAGCCAGATGCTTTCGCCAGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTATTTGTGTGTCTGTATACACACACACATATCCCTATATATGTATGTATAACCTATGTAGATTTGGTTCTCCAAAGCTTTCTTGACTATAAATAGTAATGTGTTCTATCTAGTTCAACGATTACATATTATAGATGCTGAA... | TTGTCATTTAAAAAATCAATATAAATATTTTACAGAATTTAAAAAAAACTATTCATTTAGGTGTATATTTTTATTTCTTCTACTTATTTGAGATTATAGAAAAATATTCACTGGGAATGTTATCTGGAAAGTAGCCAGATGCTTTCGCCAGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTATTTGTGTGTCTGTATACACACACACATATCCCTATATATGTATGTATAACCTATGTAGATTTGGTTCTCCAAAGCTTTCTTGACTATAAATAGTAATGTGTTCTATCTAGTTCAACGATTACATATTATAGATGCTGAA... |
Task1_train_9420 | Here’s a variant in FBN2 (fibrillin 2) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTGTCATTTAAAAAATCAATATAAATATTTTACAGAATTTAAAAAAAACTATTCATTTAGGTGTATATTTTTATTTCTTCTACTTATTTGAGATTATAGAAAAATATTCACTGGGAATGTTATCTGGAAAGTAGCCAGATGCTTTCGCCAGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTATTTGTGTGTCTGTATACACACACACATATCCCTATATATGTATGTATAACCTATGTAGATTTGGTTCTCCAAAGCTTTCTTGACTATAAATAGTAATGTGTTCTATCTAGTTCAACGATTACATATTATAGATGCTGAA... | TTGTCATTTAAAAAATCAATATAAATATTTTACAGAATTTAAAAAAAACTATTCATTTAGGTGTATATTTTTATTTCTTCTACTTATTTGAGATTATAGAAAAATATTCACTGGGAATGTTATCTGGAAAGTAGCCAGATGCTTTCGCCAGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTATTTGTGTGTCTGTATACACACACACATATCCCTATATATGTATGTATAACCTATGTAGATTTGGTTCTCCAAAGCTTTCTTGACTATAAATAGTAATGTGTTCTATCTAGTTCAACGATTACATATTATAGATGCTGAA... |
Task1_train_9421 | The following genetic variant occurs in FBN2 (fibrillin 2) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Congenital contractural arachnodactyly | TAGCCTGATATCCAGGATTGCAAGAGCACTGATAGGTTCCAATCATGTTCACACATTTTCCATTTCTGCAGAGATTGTCACTCAGGGAGCATTCATTAATATCTATAAAAGATACACAGAAGTAATGCTTTACACAATGTCCACTCACTAAAGCCATCAGAAAGGTGCTTCACCAGAGCAGTGGTCTCCAAAGGGGTTTGTGTACTTCACGAGGAAGTAAAATGTTCTCCTGGGGGATTGAAAGAAAATGCTGGATTCTCTATTTCCATCTACAACAATACTGTTGAGTAAAGCTTTCTACAATGATGCAACTGCTCCCA... | TAGCCTGATATCCAGGATTGCAAGAGCACTGATAGGTTCCAATCATGTTCACACATTTTCCATTTCTGCAGAGATTGTCACTCAGGGAGCATTCATTAATATCTATAAAAGATACACAGAAGTAATGCTTTACACAATGTCCACTCACTAAAGCCATCAGAAAGGTGCTTCACCAGAGCAGTGGTCTCCAAAGGGGTTTGTGTACTTCACGAGGAAGTAAAATGTTCTCCTGGGGGATTGAAAGAAAATGCTGGATTCTCTATTTCCATCTACAACAATACTGTTGAGTAAAGCTTTCTACAATGATGCAACTGCTCCCA... |
Task1_train_9422 | A variant affecting Chromosome 5, within the gene FBN2 (fibrillin 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital contractural arachnodactyly | CACATTTTCCATTTCTGCAGAGATTGTCACTCAGGGAGCATTCATTAATATCTATAAAAGATACACAGAAGTAATGCTTTACACAATGTCCACTCACTAAAGCCATCAGAAAGGTGCTTCACCAGAGCAGTGGTCTCCAAAGGGGTTTGTGTACTTCACGAGGAAGTAAAATGTTCTCCTGGGGGATTGAAAGAAAATGCTGGATTCTCTATTTCCATCTACAACAATACTGTTGAGTAAAGCTTTCTACAATGATGCAACTGCTCCCAAATCTATGCGGTCTAATACACAGCTGCATGTGCTACTGAGTACTGGAAATA... | CACATTTTCCATTTCTGCAGAGATTGTCACTCAGGGAGCATTCATTAATATCTATAAAAGATACACAGAAGTAATGCTTTACACAATGTCCACTCACTAAAGCCATCAGAAAGGTGCTTCACCAGAGCAGTGGTCTCCAAAGGGGTTTGTGTACTTCACGAGGAAGTAAAATGTTCTCCTGGGGGATTGAAAGAAAATGCTGGATTCTCTATTTCCATCTACAACAATACTGTTGAGTAAAGCTTTCTACAATGATGCAACTGCTCCCAAATCTATGCGGTCTAATACACAGCTGCATGTGCTACTGAGTACTGGAAATA... |
Task1_train_9423 | This variant affects gene FBN2 (fibrillin 2) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; Congenital contractural arachnodactyly | AAATTTATTCCAAATTCTCAAAATAACCAAGAAGATTATATGGCATGGGTTTATGCTTATGATCACTAAGTGTATATTATACAGAAATATATATTTTATATTCTGCATTGTTCCTTTGGGGGATACGTTTTTAAGCTGTAAGATCCACGAAAACTAAATAACAAAGTAAACTTAGATCTGTGACTCATTATACCTCAATATGTTCAACCATGAATAAATATTCTGCAATTATTAGTGTGAAAAAGCCTTTTGTACCGCTATTAAAATGAAATAAGAACATAAAAACCTTTTCATTTATCATTTTAAAATATCTATTTATC... | AAATTTATTCCAAATTCTCAAAATAACCAAGAAGATTATATGGCATGGGTTTATGCTTATGATCACTAAGTGTATATTATACAGAAATATATATTTTATATTCTGCATTGTTCCTTTGGGGGATACGTTTTTAAGCTGTAAGATCCACGAAAACTAAATAACAAAGTAAACTTAGATCTGTGACTCATTATACCTCAATATGTTCAACCATGAATAAATATTCTGCAATTATTAGTGTGAAAAAGCCTTTTGTACCGCTATTAAAATGAAATAAGAACATAAAAACCTTTTCATTTATCATTTTAAAATATCTATTTATC... |
Task1_train_9424 | This variant impacts the gene FBN2 (fibrillin 2) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital contractural arachnodactyly | GCATGGGTTTATGCTTATGATCACTAAGTGTATATTATACAGAAATATATATTTTATATTCTGCATTGTTCCTTTGGGGGATACGTTTTTAAGCTGTAAGATCCACGAAAACTAAATAACAAAGTAAACTTAGATCTGTGACTCATTATACCTCAATATGTTCAACCATGAATAAATATTCTGCAATTATTAGTGTGAAAAAGCCTTTTGTACCGCTATTAAAATGAAATAAGAACATAAAAACCTTTTCATTTATCATTTTAAAATATCTATTTATCTATGACAAAATTCACCTCATATACTAGCAAAGCAATACATAA... | GCATGGGTTTATGCTTATGATCACTAAGTGTATATTATACAGAAATATATATTTTATATTCTGCATTGTTCCTTTGGGGGATACGTTTTTAAGCTGTAAGATCCACGAAAACTAAATAACAAAGTAAACTTAGATCTGTGACTCATTATACCTCAATATGTTCAACCATGAATAAATATTCTGCAATTATTAGTGTGAAAAAGCCTTTTGTACCGCTATTAAAATGAAATAAGAACATAAAAACCTTTTCATTTATCATTTTAAAATATCTATTTATCTATGACAAAATTCACCTCATATACTAGCAAAGCAATACATAA... |
Task1_train_9425 | A variant was discovered in gene FBN2 (fibrillin 2), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Congenital contractural arachnodactyly | CATGGGTTTATGCTTATGATCACTAAGTGTATATTATACAGAAATATATATTTTATATTCTGCATTGTTCCTTTGGGGGATACGTTTTTAAGCTGTAAGATCCACGAAAACTAAATAACAAAGTAAACTTAGATCTGTGACTCATTATACCTCAATATGTTCAACCATGAATAAATATTCTGCAATTATTAGTGTGAAAAAGCCTTTTGTACCGCTATTAAAATGAAATAAGAACATAAAAACCTTTTCATTTATCATTTTAAAATATCTATTTATCTATGACAAAATTCACCTCATATACTAGCAAAGCAATACATAAG... | CATGGGTTTATGCTTATGATCACTAAGTGTATATTATACAGAAATATATATTTTATATTCTGCATTGTTCCTTTGGGGGATACGTTTTTAAGCTGTAAGATCCACGAAAACTAAATAACAAAGTAAACTTAGATCTGTGACTCATTATACCTCAATATGTTCAACCATGAATAAATATTCTGCAATTATTAGTGTGAAAAAGCCTTTTGTACCGCTATTAAAATGAAATAAGAACATAAAAACCTTTTCATTTATCATTTTAAAATATCTATTTATCTATGACAAAATTCACCTCATATACTAGCAAAGCAATACATAAG... |
Task1_train_9426 | Chromosome 5 houses a mutation in gene FBN2 (fibrillin 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Congenital contractural arachnodactyly | CAAGCAGAGGTCCAGGAGAGATGTTTTAACACCACAAAGATGTTTTGCAAGAGTAGATGAGTATACATGTATGTGCCTGAGTGACAGAGGGCAAAAGTCAAAATTACAGGACAAATGGCTGGTTGAAAGAGAGGGGTGAGACTTACCAGCAGGAAAACGGGATGGTAGCTTGAGAGAAAAGAAGGGCTGAGGAGATATTTTGAACCTGTGTATAAGTTGAGGAACAGGAAGCAGGGAAGAGGAGATGCTAGAGAGAGGAGAGAGGAGCGAACCTGCTGAGACAACCCAGAGCAGGAGCTGGGAAGGAGGGAAAAGAGGAG... | CAAGCAGAGGTCCAGGAGAGATGTTTTAACACCACAAAGATGTTTTGCAAGAGTAGATGAGTATACATGTATGTGCCTGAGTGACAGAGGGCAAAAGTCAAAATTACAGGACAAATGGCTGGTTGAAAGAGAGGGGTGAGACTTACCAGCAGGAAAACGGGATGGTAGCTTGAGAGAAAAGAAGGGCTGAGGAGATATTTTGAACCTGTGTATAAGTTGAGGAACAGGAAGCAGGGAAGAGGAGATGCTAGAGAGAGGAGAGAGGAGCGAACCTGCTGAGACAACCCAGAGCAGGAGCTGGGAAGGAGGGAAAAGAGGAG... |
Task1_train_9427 | Here is a variant affecting FBN2 (fibrillin 2) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Congenital contractural arachnodactyly | CAGAGGGCAAAAGTCAAAATTACAGGACAAATGGCTGGTTGAAAGAGAGGGGTGAGACTTACCAGCAGGAAAACGGGATGGTAGCTTGAGAGAAAAGAAGGGCTGAGGAGATATTTTGAACCTGTGTATAAGTTGAGGAACAGGAAGCAGGGAAGAGGAGATGCTAGAGAGAGGAGAGAGGAGCGAACCTGCTGAGACAACCCAGAGCAGGAGCTGGGAAGGAGGGAAAAGAGGAGTTAACCCCAAATCCAGGTAGAGCATCACACCTCATTCTCTGTCACCGGAGGAGAGGGAGTGGGGGATAAAGGAGATTTTTTTTT... | CAGAGGGCAAAAGTCAAAATTACAGGACAAATGGCTGGTTGAAAGAGAGGGGTGAGACTTACCAGCAGGAAAACGGGATGGTAGCTTGAGAGAAAAGAAGGGCTGAGGAGATATTTTGAACCTGTGTATAAGTTGAGGAACAGGAAGCAGGGAAGAGGAGATGCTAGAGAGAGGAGAGAGGAGCGAACCTGCTGAGACAACCCAGAGCAGGAGCTGGGAAGGAGGGAAAAGAGGAGTTAACCCCAAATCCAGGTAGAGCATCACACCTCATTCTCTGTCACCGGAGGAGAGGGAGTGGGGGATAAAGGAGATTTTTTTTT... |
Task1_train_9428 | This sequence change occurs on Chromosome 5, altering FBN2 (fibrillin 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Congenital contractural arachnodactyly | CTTAGTCCAGTGATGATAGGTCCCTGTCCCCCGGCCCCCACACCGGCTCCCCCAACGCCAGGAGAAAAGCCATTGCCTCCAGGGATGGGGATGAAGCCTGTCCCTCCTGGGCCATAGCCATTGCCATTGCCACTTGGGGCAAAGCCATTTCCCCCAGTGCCTCCAGGTCTGGAACCAGCACTCCCTGGAATTCCTCCCATTGGAAGTCCATCCATGCAAAGTCTGCGATATTCCTCTAGAAGAAAAGAAAGTTGGCATTAAGCACAGGTGAATGTCTTTCTGCATAACAAAAGCCATTGGTACACTGTACTAAGTCACTT... | CTTAGTCCAGTGATGATAGGTCCCTGTCCCCCGGCCCCCACACCGGCTCCCCCAACGCCAGGAGAAAAGCCATTGCCTCCAGGGATGGGGATGAAGCCTGTCCCTCCTGGGCCATAGCCATTGCCATTGCCACTTGGGGCAAAGCCATTTCCCCCAGTGCCTCCAGGTCTGGAACCAGCACTCCCTGGAATTCCTCCCATTGGAAGTCCATCCATGCAAAGTCTGCGATATTCCTCTAGAAGAAAAGAAAGTTGGCATTAAGCACAGGTGAATGTCTTTCTGCATAACAAAAGCCATTGGTACACTGTACTAAGTCACTT... |
Task1_train_9429 | The gene MINAR2 (membrane integral NOTCH2 associated receptor 2), on Chromosome 5, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hearing loss, autosomal recessive 120 | AGTCTATATACATTGTAATAGAGTGTGTACTTTTTTTCTTGATCTCCCCAAAACTGTATTTTCATTTATAGATCTTTCTTATTTAAGAAACTTGGCCAACAGTGTAGAAGACAATCTGACAAAGCCAATTTGTCAGTGTCAGGAGAATTATCCCCCTTCAGAGATGATCAAAGATGCCTAGCCTTGAAGAAAAAAAAAATTAAGTAAAAATTATGCTAAGCTCATATCATTTAAATTTCTTATCAAATTACTTTTTTCTCAATTCAGAAACATTACTTTTGAAGCAGTCTATCTTTGAGATAAATGCTAAGCCAAGAAGA... | AGTCTATATACATTGTAATAGAGTGTGTACTTTTTTTCTTGATCTCCCCAAAACTGTATTTTCATTTATAGATCTTTCTTATTTAAGAAACTTGGCCAACAGTGTAGAAGACAATCTGACAAAGCCAATTTGTCAGTGTCAGGAGAATTATCCCCCTTCAGAGATGATCAAAGATGCCTAGCCTTGAAGAAAAAAAAAATTAAGTAAAAATTATGCTAAGCTCATATCATTTAAATTTCTTATCAAATTACTTTTTTCTCAATTCAGAAACATTACTTTTGAAGCAGTCTATCTTTGAGATAAATGCTAAGCCAAGAAGA... |
Task1_train_9430 | A genomic change on Chromosome 5 affects HINT1 (histidine triad nucleotide binding protein 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive axonal neuropathy with neuromyotonia | CTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGTTGAGACTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAGACTCAGCCTCAAAAAAAAAGTACTAGGAAAAAAAGAATAATATTTTAAAATCCTCTTAGGGTGGGAAAGGCTTATGAAATAAATTTAAGATGGATGTATTAACCATATAAACATTTTAAACACCATAAACAAAGTAAGGAGACAAATGACAAATTGGGAAAAAATTATGTGTTGCACATAAAAAGCCAATTTCCCTCCTCTCCCCACCTCCAAAAAAAA... | CTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGTTGAGACTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAGACTCAGCCTCAAAAAAAAAGTACTAGGAAAAAAAGAATAATATTTTAAAATCCTCTTAGGGTGGGAAAGGCTTATGAAATAAATTTAAGATGGATGTATTAACCATATAAACATTTTAAACACCATAAACAAAGTAAGGAGACAAATGACAAATTGGGAAAAAATTATGTGTTGCACATAAAAAGCCAATTTCCCTCCTCTCCCCACCTCCAAAAAAAA... |
Task1_train_9431 | Mutation context: Chromosome 5, Gene HINT1 (histidine triad nucleotide binding protein 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive axonal neuropathy with neuromyotonia | TGGGCAACAAGAGCGAGACTCAGCCTCAAAAAAAAAGTACTAGGAAAAAAAGAATAATATTTTAAAATCCTCTTAGGGTGGGAAAGGCTTATGAAATAAATTTAAGATGGATGTATTAACCATATAAACATTTTAAACACCATAAACAAAGTAAGGAGACAAATGACAAATTGGGAAAAAATTATGTGTTGCACATAAAAAGCCAATTTCCCTCCTCTCCCCACCTCCAAAAAAAAAAAAAAAAACTATTTTAAAAAATCACTAACAGGAAATAAAATTTTAAGAAAAACAACTCAATTAAATGTGTCAAAACCCTACAG... | TGGGCAACAAGAGCGAGACTCAGCCTCAAAAAAAAAGTACTAGGAAAAAAAGAATAATATTTTAAAATCCTCTTAGGGTGGGAAAGGCTTATGAAATAAATTTAAGATGGATGTATTAACCATATAAACATTTTAAACACCATAAACAAAGTAAGGAGACAAATGACAAATTGGGAAAAAATTATGTGTTGCACATAAAAAGCCAATTTCCCTCCTCTCCCCACCTCCAAAAAAAAAAAAAAAAACTATTTTAAAAAATCACTAACAGGAAATAAAATTTTAAGAAAAACAACTCAATTAAATGTGTCAAAACCCTACAG... |
Task1_train_9432 | This genomic variant is located on Chromosome 5, within the HINT1 (histidine triad nucleotide binding protein 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive axonal neuropathy with neuromyotonia | AAGGGAGAGAGTCTTACATTTCTATTCCCATTACCTTATTAAGCCCCAGGACAGTGGACTCTGCTTACCTTACTCATGCAGTAAGGTCCATTGTACAGATGGACAATGGACAAAAATTGTAAGTTGGGGAAATTATGATTTTTCAACTTTACAATGGTGTGGCGATATGCATTCAGGAGAAACCATACTTCGAATTCTGATCCTTTTCCAGACTGGTGATATGCAGTAAAATACTCTTACATGAGATATTCAACACTCTGTTACAGAATAGGCTCTGTATTAGATGATTTTGCCCAACTGTAGGTTAACGTTAAGTGTTC... | AAGGGAGAGAGTCTTACATTTCTATTCCCATTACCTTATTAAGCCCCAGGACAGTGGACTCTGCTTACCTTACTCATGCAGTAAGGTCCATTGTACAGATGGACAATGGACAAAAATTGTAAGTTGGGGAAATTATGATTTTTCAACTTTACAATGGTGTGGCGATATGCATTCAGGAGAAACCATACTTCGAATTCTGATCCTTTTCCAGACTGGTGATATGCAGTAAAATACTCTTACATGAGATATTCAACACTCTGTTACAGAATAGGCTCTGTATTAGATGATTTTGCCCAACTGTAGGTTAACGTTAAGTGTTC... |
Task1_train_9433 | A sequence alteration has been identified in HINT1 (histidine triad nucleotide binding protein 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Peripheral neuropathy | GCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCTACTGCACCCGGACTCCATGGAAGTCTTATGGGAAGACCAACTTTAAAAGTATAATCACCAAAGGTCATACATGTTACAAAGGAAAAATATGAATGATCATTACAGGAAAAGCCTGATTTAGATTAAGTGTTTAAGAACAACTCTGAGGCAGTGACATTTAAACTGGGAGCCAATGAATGCATAAAAATTGGCCATGCTAATCCTTGCCTGCCTCTCCAGATCTCCTGCAGGTCTTCACATGGAA... | GCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCTACTGCACCCGGACTCCATGGAAGTCTTATGGGAAGACCAACTTTAAAAGTATAATCACCAAAGGTCATACATGTTACAAAGGAAAAATATGAATGATCATTACAGGAAAAGCCTGATTTAGATTAAGTGTTTAAGAACAACTCTGAGGCAGTGACATTTAAACTGGGAGCCAATGAATGCATAAAAATTGGCCATGCTAATCCTTGCCTGCCTCTCCAGATCTCCTGCAGGTCTTCACATGGAA... |
Task1_train_9434 | A sequence alteration has been identified in HINT1 (histidine triad nucleotide binding protein 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive axonal neuropathy with neuromyotonia | GCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCTACTGCACCCGGACTCCATGGAAGTCTTATGGGAAGACCAACTTTAAAAGTATAATCACCAAAGGTCATACATGTTACAAAGGAAAAATATGAATGATCATTACAGGAAAAGCCTGATTTAGATTAAGTGTTTAAGAACAACTCTGAGGCAGTGACATTTAAACTGGGAGCCAATGAATGCATAAAAATTGGCCATGCTAATCCTTGCCTGCCTCTCCAGATCTCCTGCAGGTCTTCACATGGAA... | GCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCTACTGCACCCGGACTCCATGGAAGTCTTATGGGAAGACCAACTTTAAAAGTATAATCACCAAAGGTCATACATGTTACAAAGGAAAAATATGAATGATCATTACAGGAAAAGCCTGATTTAGATTAAGTGTTTAAGAACAACTCTGAGGCAGTGACATTTAAACTGGGAGCCAATGAATGCATAAAAATTGGCCATGCTAATCCTTGCCTGCCTCTCCAGATCTCCTGCAGGTCTTCACATGGAA... |
Task1_train_9435 | A variant on Chromosome 5 in gene HINT1 (histidine triad nucleotide binding protein 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Inborn genetic diseases | GCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCTACTGCACCCGGACTCCATGGAAGTCTTATGGGAAGACCAACTTTAAAAGTATAATCACCAAAGGTCATACATGTTACAAAGGAAAAATATGAATGATCATTACAGGAAAAGCCTGATTTAGATTAAGTGTTTAAGAACAACTCTGAGGCAGTGACATTTAAACTGGGAGCCAATGAATGCATAAAAATTGGCCATGCTAATCCTTGCCTGCCTCTCCAGATCTCCTGCAGGTCTTCACATGGAA... | GCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCTACTGCACCCGGACTCCATGGAAGTCTTATGGGAAGACCAACTTTAAAAGTATAATCACCAAAGGTCATACATGTTACAAAGGAAAAATATGAATGATCATTACAGGAAAAGCCTGATTTAGATTAAGTGTTTAAGAACAACTCTGAGGCAGTGACATTTAAACTGGGAGCCAATGAATGCATAAAAATTGGCCATGCTAATCCTTGCCTGCCTCTCCAGATCTCCTGCAGGTCTTCACATGGAA... |
Task1_train_9436 | Chromosome 5 houses a mutation in gene LYRM7 (LYR motif containing 7). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Mitochondrial complex III deficiency nuclear type 8 | TTTTAAATTTTTTTGCTCTGTTTCTTATTTCTGTTTTCATGTCTGCCTTTGATGTTATAGGTTTTCTAATATACGTAAAACACTTAAAATGGTGTCTAGCACACAGTATGCTTAGTAAATGTTAGACAGTATTTGCAGAACAGACTGGAGGACAGGAGGGTGTGGTGGCAAAGTGACAAACCTTTGTAAGTAGTCTAAGAGATGGGGAGTGCCTGAACATAAGTGATTTTGTTGAGAGAGGATAAAAGAAAGATTACAGAGACATTTCTAAAGTTTCCACGACAAGAGTAAGGTATAATAAAAGGATGACCTACTGATTT... | TTTTAAATTTTTTTGCTCTGTTTCTTATTTCTGTTTTCATGTCTGCCTTTGATGTTATAGGTTTTCTAATATACGTAAAACACTTAAAATGGTGTCTAGCACACAGTATGCTTAGTAAATGTTAGACAGTATTTGCAGAACAGACTGGAGGACAGGAGGGTGTGGTGGCAAAGTGACAAACCTTTGTAAGTAGTCTAAGAGATGGGGAGTGCCTGAACATAAGTGATTTTGTTGAGAGAGGATAAAAGAAAGATTACAGAGACATTTCTAAAGTTTCCACGACAAGAGTAAGGTATAATAAAAGGATGACCTACTGATTT... |
Task1_train_9437 | A sequence alteration has been identified in FNIP1 (folliculin interacting protein 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Immunodeficiency 93 and hypertrophic cardiomyopathy | GGAGTTGAAGACCAACCTAAGCAAGATAATGAGACCCTGTCTCCACAAAAAAATTTTAAAAACTAGCTGGGCATGGTGGTGTGTGCCCGTGGTACCAGCTACTCTGGAAGCTGAGGCAGAAAGATCTCTTGAGCCTGGGAGGTTGAGGCTGAAGTCAGCTATGTACCAACAGCAGGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAACAAAGAATAATAATGTGTACCCAGATTGTTTTGGATTCAAATGTTTCTATAATAAGATGTATTGGAAGTAATGGGAGCTACTTCAAAATACATCCTACCACAAATT... | GGAGTTGAAGACCAACCTAAGCAAGATAATGAGACCCTGTCTCCACAAAAAAATTTTAAAAACTAGCTGGGCATGGTGGTGTGTGCCCGTGGTACCAGCTACTCTGGAAGCTGAGGCAGAAAGATCTCTTGAGCCTGGGAGGTTGAGGCTGAAGTCAGCTATGTACCAACAGCAGGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAACAAAGAATAATAATGTGTACCCAGATTGTTTTGGATTCAAATGTTTCTATAATAAGATGTATTGGAAGTAATGGGAGCTACTTCAAAATACATCCTACCACAAATT... |
Task1_train_9438 | Here’s a variant in P4HA2 (prolyl 4-hydroxylase subunit alpha 2) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Myopia 25, autosomal dominant | GTAAACTAATAAAATAATGTAACCAGTTAAAAATAATAATGAAGAAATAAAGTAAATTAACAGTAACAAAGAAACTACCAAGGAATAAACTTAAGAAATGTTCAAGGCTTATATGAAGAAAACTTAAAAAGATATGGAGAGACCTGTCATGCCCTTGGATGAGAAGACCCAATATTATAAAGATATACATTCTCCTCTAAGTCATTCACCTCATTTACAGTCCTAATCAGGAGCTCCACAGGACCCAGCTTCATAGCATCCTATGGAACATTTCCAAAAAACTCACCCACGCACCAGTCTCCCAACCAGGTGAACTGACA... | GTAAACTAATAAAATAATGTAACCAGTTAAAAATAATAATGAAGAAATAAAGTAAATTAACAGTAACAAAGAAACTACCAAGGAATAAACTTAAGAAATGTTCAAGGCTTATATGAAGAAAACTTAAAAAGATATGGAGAGACCTGTCATGCCCTTGGATGAGAAGACCCAATATTATAAAGATATACATTCTCCTCTAAGTCATTCACCTCATTTACAGTCCTAATCAGGAGCTCCACAGGACCCAGCTTCATAGCATCCTATGGAACATTTCCAAAAAACTCACCCACGCACCAGTCTCCCAACCAGGTGAACTGACA... |
Task1_train_9439 | Gene P4HA2 (prolyl 4-hydroxylase subunit alpha 2) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Myopia 25, autosomal dominant | GGATGCTAATGACCAGTAGCTATTATCAACATGTCTCCCAGATGCCAAGAATGCTAAGAATGGCTCCCTGGCACTCAGCATCCTCCCCAGAGCCAACTCGAATGTCTACTCCCTGGAGAGCATTTGGGAGAGTGACAGCTGAGCTGAGTGCTGATAGGCAATCAGACATGGAGTAGCCTAGCTGACATGGGTAAAGGTATTCCTATAGAGGGGTTGAGACAAAAGAGCTGAGTGATAGGGAAAGCTGAGTACAATGGGCAAGGAAGCCAGGAAAATGGAGTCATGCAGGACCCCAAAGACCACACACAGGAGGAGTTTGG... | GGATGCTAATGACCAGTAGCTATTATCAACATGTCTCCCAGATGCCAAGAATGCTAAGAATGGCTCCCTGGCACTCAGCATCCTCCCCAGAGCCAACTCGAATGTCTACTCCCTGGAGAGCATTTGGGAGAGTGACAGCTGAGCTGAGTGCTGATAGGCAATCAGACATGGAGTAGCCTAGCTGACATGGGTAAAGGTATTCCTATAGAGGGGTTGAGACAAAAGAGCTGAGTGATAGGGAAAGCTGAGTACAATGGGCAAGGAAGCCAGGAAAATGGAGTCATGCAGGACCCCAAAGACCACACACAGGAGGAGTTTGG... |
Task1_train_9440 | An alteration has been detected in SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Renal carnitine transport defect | AAGTCCTGTGATAACATCTTTATCATAATTTTTTTAAGTCTATTATGCTTTATGCAAATGTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGG... | AAGTCCTGTGATAACATCTTTATCATAATTTTTTTAAGTCTATTATGCTTTATGCAAATGTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGG... |
Task1_train_9441 | A variant found in Chromosome 5 affects SLC22A5 (solute carrier family 22 member 5). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Renal carnitine transport defect | TCTATTATGCTTTATGCAAATGTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAG... | TCTATTATGCTTTATGCAAATGTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAG... |
Task1_train_9442 | This mutation is located in gene SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Renal carnitine transport defect | TTATGCAAATGTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTC... | TTATGCAAATGTTTAGATTTCCTTGTTAAAAATCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTC... |
Task1_train_9443 | The gene SLC22A5 (solute carrier family 22 member 5) on Chromosome 5 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Renal carnitine transport defect | TCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGG... | TCTGCTGGCCAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGG... |
Task1_train_9444 | Here is a genetic alteration in SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Renal carnitine transport defect | CAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCT... | CAGGTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCT... |
Task1_train_9445 | Located on Chromosome 5, this mutation impacts SLC22A5 (solute carrier family 22 member 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not specified | GTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAA... | GTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAA... |
Task1_train_9446 | An alteration has been detected in SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Renal carnitine transport defect | GTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAA... | GTTAGGTTCCCTTTCTGTAGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAA... |
Task1_train_9447 | The following genetic variant occurs in SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Renal carnitine transport defect | AGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAACCCAGGAGTCTGAGACC... | AGCTTTATTTTCAACTCATAATATAGTGACTATTAAATATTCTTTACTCAACACATTATATTGTAAAAATATACACTTAGTTCTGTTTCTATCACTAAGCCACTACTATTTTAAAAAGGAATATCTTGCATTGTTAAGTTTAGCAGCCCAAATTCTTAAAGGCCTTAGGAATGGTGCTGTCCAATAAGATAACCAATAGCTACATGTGGCTACTGAGCACTTAAAAAATGAGTCTGGCCAGGCATAGTGGCTCACGTCTGTAATTCAGCATTTTGGGAGGCTGAGGTGGGAGGATTGCTTAAACCCAGGAGTCTGAGACC... |
Task1_train_9448 | This alteration occurs within gene SLC22A5 (solute carrier family 22 member 5) located on Chromosome 5. Is it associated with a disease or is it a benign variant? | Pathogenic; Renal carnitine transport defect | TAACAACATATCTGGCCTCTACTCATTAGATGCCAGTGAACCCCAAGTGATGGAAAAAAACAACAACAACAGAAAAAAACCTCTTTTATTGAGGAAAAACACCAAACTCTTCCACATAGTTGCAAGACCTTGTGCAATTTGCCTCCTAGCCACCACTGTACTCTTGAATTGCACGCCTGATGCCAACCACACTGGTTCCTCATGTTCACCATGCCCCCTCCAGCCATGGGGGTGTGTGGTCTTCTCAGAGTCTGAAGCATTCCCCACCCACCCCAACCCACCCCCTGTGGCCTTCTTTAACCATGCTGGCTAATTCAGGA... | TAACAACATATCTGGCCTCTACTCATTAGATGCCAGTGAACCCCAAGTGATGGAAAAAAACAACAACAACAGAAAAAAACCTCTTTTATTGAGGAAAAACACCAAACTCTTCCACATAGTTGCAAGACCTTGTGCAATTTGCCTCCTAGCCACCACTGTACTCTTGAATTGCACGCCTGATGCCAACCACACTGGTTCCTCATGTTCACCATGCCCCCTCCAGCCATGGGGGTGTGTGGTCTTCTCAGAGTCTGAAGCATTCCCCACCCACCCCAACCCACCCCCTGTGGCCTTCTTTAACCATGCTGGCTAATTCAGGA... |
Task1_train_9449 | This variant affects the gene SLC22A5 (solute carrier family 22 member 5) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Renal carnitine transport defect | TAACAACATATCTGGCCTCTACTCATTAGATGCCAGTGAACCCCAAGTGATGGAAAAAAACAACAACAACAGAAAAAAACCTCTTTTATTGAGGAAAAACACCAAACTCTTCCACATAGTTGCAAGACCTTGTGCAATTTGCCTCCTAGCCACCACTGTACTCTTGAATTGCACGCCTGATGCCAACCACACTGGTTCCTCATGTTCACCATGCCCCCTCCAGCCATGGGGGTGTGTGGTCTTCTCAGAGTCTGAAGCATTCCCCACCCACCCCAACCCACCCCCTGTGGCCTTCTTTAACCATGCTGGCTAATTCAGGA... | TAACAACATATCTGGCCTCTACTCATTAGATGCCAGTGAACCCCAAGTGATGGAAAAAAACAACAACAACAGAAAAAAACCTCTTTTATTGAGGAAAAACACCAAACTCTTCCACATAGTTGCAAGACCTTGTGCAATTTGCCTCCTAGCCACCACTGTACTCTTGAATTGCACGCCTGATGCCAACCACACTGGTTCCTCATGTTCACCATGCCCCCTCCAGCCATGGGGGTGTGTGGTCTTCTCAGAGTCTGAAGCATTCCCCACCCACCCCAACCCACCCCCTGTGGCCTTCTTTAACCATGCTGGCTAATTCAGGA... |
Task1_train_9450 | Consider a variant on Chromosome 5 in gene SLC22A5 (solute carrier family 22 member 5). Determine its clinical classification and disease relevance. | Pathogenic; Renal carnitine transport defect | ATGAAGAACCTGAGCTATTCCACCTATAGAATTTCCCAGTCTGGATTTGTTGATTGCACACTGATGATGCAGTTCAGCACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTAATCCATTGGGGGCTATAAATGGTATTATTCTAATTTTATTACCTTTTCATTTAAAAGTTAGAATACTTTTG... | ATGAAGAACCTGAGCTATTCCACCTATAGAATTTCCCAGTCTGGATTTGTTGATTGCACACTGATGATGCAGTTCAGCACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTAATCCATTGGGGGCTATAAATGGTATTATTCTAATTTTATTACCTTTTCATTTAAAAGTTAGAATACTTTTG... |
Task1_train_9451 | The following genetic variant occurs in SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not specified | ACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTAATCCATTGGGGGCTATAAATGGTATTATTCTAATTTTATTACCTTTTCATTTAAAAGTTAGAATACTTTTGTACATGATACTACCTCTTATCTATTATTGGTTGCTGTTCACATAGTTTACAAAGGAAAATCAGGACAAATGTTTCTTT... | ACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTAATCCATTGGGGGCTATAAATGGTATTATTCTAATTTTATTACCTTTTCATTTAAAAGTTAGAATACTTTTGTACATGATACTACCTCTTATCTATTATTGGTTGCTGTTCACATAGTTTACAAAGGAAAATCAGGACAAATGTTTCTTT... |
Task1_train_9452 | Consider a variant on Chromosome 5 in gene SLC22A5 (solute carrier family 22 member 5). Determine its clinical classification and disease relevance. | Pathogenic; Renal carnitine transport defect | ACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTAATCCATTGGGGGCTATAAATGGTATTATTCTAATTTTATTACCTTTTCATTTAAAAGTTAGAATACTTTTGTACATGATACTACCTCTTATCTATTATTGGTTGCTGTTCACATAGTTTACAAAGGAAAATCAGGACAAATGTTTCTTT... | ACATTCCTCTATGCTCTGCATTTCCTCAAAATTGGCAGTTGGATCCAGAGACTTGAGATTCAGGTTCTGATTCAGGTTCAGTCCTTTTGGCCAGACCATAGGAAGCATGCAATTCCTGACTGTCTCTTTATGATGTTAACAGTAATTAGTATATAATGCATAGATCTATTAATCCATTGGGGGCTATAAATGGTATTATTCTAATTTTATTACCTTTTCATTTAAAAGTTAGAATACTTTTGTACATGATACTACCTCTTATCTATTATTGGTTGCTGTTCACATAGTTTACAAAGGAAAATCAGGACAAATGTTTCTTT... |
Task1_train_9453 | Gene SLC22A5 (solute carrier family 22 member 5), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Renal carnitine transport defect | AGCATGTGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACC... | AGCATGTGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACC... |
Task1_train_9454 | Here is a mutation in SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Renal carnitine transport defect | TGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCTT... | TGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCTT... |
Task1_train_9455 | Given this context: Chromosome 5, gene SLC22A5 (solute carrier family 22 member 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Inborn genetic diseases | TGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCTT... | TGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCTT... |
Task1_train_9456 | This mutation is located in gene SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Renal carnitine transport defect | TGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCTT... | TGCTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCTT... |
Task1_train_9457 | An alteration has been detected in SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Renal carnitine transport defect | CTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCTTGT... | CTGACTTAGTAATGACTTCACTTTTAATAAATTCTTCCTCATGTGAGGATTAAAGGGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCTTGT... |
Task1_train_9458 | The gene SLC22A5 (solute carrier family 22 member 5) on Chromosome 5 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Renal carnitine transport defect | GGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCTTGTTTTGAACAGGGACAGAAATTCTTGGCAAGTCAGTTCGTATAATATTCTCTACGTT... | GGGGCCTACCATGGCATCTTTAGCACATGGCTTCAGAACATGGCGAAATTTTCAAGAGAGAACTGTTGCTTGGGGGCCTGAGAGGCCACAGGGATGTACCCCCAGGAGACAGTCAGACAGGAGGGGTTCAGAACGCCATCCGCTCCCTAGCGCCATGAACTTAGAGAGAGTTCTCGCTGTTTTCTTGTCTGTGTATTCACAAAGATACCATAAAAAATTAATAAGGAAGGAACCCAAATTAAACTGCTAACTCGACCTCCCTTGTTTTGAACAGGGACAGAAATTCTTGGCAAGTCAGTTCGTATAATATTCTCTACGTT... |
Task1_train_9459 | Given this context: Chromosome 5, gene SLC22A5 (solute carrier family 22 member 5) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Renal carnitine transport defect | TGGGTCTGCTGTTGGCAGGGAGGCCTCACTGAGATTGGACCTTGTACTGCCAGGTTCATCCCTGAGTCCCCCCGATGGCTCATCTCTCAGGGACGATTTGAAGAGGCAGAGGTGATCATCCGCAAGGCTGCCAAAGCCAATGGGATTGTTGTGCCTTCCACTATCTTTGACCCGAGTGAGGTAAGCACCATGTGGGTGTGGGTGAGAGGGACAGACTGACCGTGATTTGAGAGCAGCAGCACCCAGCCCTGAAGTCCTCCCTGCTCACAGCAGCCCAGCCCTCTCTCCGCCCAAGCCCCAACTGCCCATTCCCCCCATCC... | TGGGTCTGCTGTTGGCAGGGAGGCCTCACTGAGATTGGACCTTGTACTGCCAGGTTCATCCCTGAGTCCCCCCGATGGCTCATCTCTCAGGGACGATTTGAAGAGGCAGAGGTGATCATCCGCAAGGCTGCCAAAGCCAATGGGATTGTTGTGCCTTCCACTATCTTTGACCCGAGTGAGGTAAGCACCATGTGGGTGTGGGTGAGAGGGACAGACTGACCGTGATTTGAGAGCAGCAGCACCCAGCCCTGAAGTCCTCCCTGCTCACAGCAGCCCAGCCCTCTCTCCGCCCAAGCCCCAACTGCCCATTCCCCCCATCC... |
Task1_train_9460 | A mutation on Chromosome 5 affecting SLC22A5 (solute carrier family 22 member 5) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Renal carnitine transport defect | GCCTCTGTCTTCCTGTACCCTTGAGGGACTGGTCACTTACTTTTCCTCATTTTCATTCACTCTGATTTGTTACTGACAAGGCCTAGGGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCT... | GCCTCTGTCTTCCTGTACCCTTGAGGGACTGGTCACTTACTTTTCCTCATTTTCATTCACTCTGATTTGTTACTGACAAGGCCTAGGGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCT... |
Task1_train_9461 | Gene SLC22A5 (solute carrier family 22 member 5), found on Chromosome 5, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not specified | GCCTCTGTCTTCCTGTACCCTTGAGGGACTGGTCACTTACTTTTCCTCATTTTCATTCACTCTGATTTGTTACTGACAAGGCCTAGGGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCT... | GCCTCTGTCTTCCTGTACCCTTGAGGGACTGGTCACTTACTTTTCCTCATTTTCATTCACTCTGATTTGTTACTGACAAGGCCTAGGGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCT... |
Task1_train_9462 | This variant impacts the gene SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Is the change likely to result in a pathogenic outcome? | Pathogenic; Renal carnitine transport defect | GGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGA... | GGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGA... |
Task1_train_9463 | This variant affects gene SLC22A5 (solute carrier family 22 member 5) located on Chromosome 5. Evaluate its biological effect and specify any disease association. | Pathogenic; not specified | GGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGA... | GGAAGTTTTCACAGCCTAAAACACAGTCAGTATACTTACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGA... |
Task1_train_9464 | This genomic variant is located on Chromosome 5, within the SLC22A5 (solute carrier family 22 member 5) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Renal carnitine transport defect | ACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGAAGTGGCCATTGGGCCTCTTGTTTACAGACATGCCTCA... | ACTGTTCTTAGAAACGTAACACTCCCCGACGCTGAGATGCAGACAGCTAAGATGCCAGGGATTCAAGTATGTTATTGTGTGCTCTGAGTCTCTGACCACCTCTTCTTCCCATACACTTATGATGTTGTTCCTGCAGTTACAAGACCTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATCCGGATGGTCACCATCATGTCCATAATGCTGTGGTATGTAAAAGAGACCTGCCTGAGGCTTCCAGACAAAGCTTCTTGAAGTGGCCATTGGGCCTCTTGTTTACAGACATGCCTCA... |
Task1_train_9465 | The variant affects gene SLC22A5 (solute carrier family 22 member 5), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Renal carnitine transport defect | TTTTTTGCTGGGACACTGTCTATATGGAAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTT... | TTTTTTGCTGGGACACTGTCTATATGGAAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTT... |
Task1_train_9466 | A variant affecting Chromosome 5, within the gene SLC22A5 (solute carrier family 22 member 5), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Inborn genetic diseases | TTTTTTGCTGGGACACTGTCTATATGGAAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTT... | TTTTTTGCTGGGACACTGTCTATATGGAAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTT... |
Task1_train_9467 | The following genetic variant occurs in SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Renal carnitine transport defect | GTCTATATGGAAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTT... | GTCTATATGGAAGGCTCTGAGAGCGCACTGGCGCAGGGTTTACACTGTACCACTTGGGCTGGGGAAAATTATCTTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTT... |
Task1_train_9468 | Gene SLC22A5 (solute carrier family 22 member 5) on Chromosome 5 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Renal carnitine transport defect | TTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCGATGGTTGAAGTCCCAGCATATGTGTTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGCTATTCCAT... | TTTTGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCGATGGTTGAAGTCCCAGCATATGTGTTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGCTATTCCAT... |
Task1_train_9469 | Given this variant in gene SLC22A5 (solute carrier family 22 member 5) on Chromosome 5, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Renal carnitine transport defect | TGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCGATGGTTGAAGTCCCAGCATATGTGTTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGCTATTCCATGGC... | TGATCTATGAAGTAAGACGCAGGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCGATGGTTGAAGTCCCAGCATATGTGTTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGCTATTCCATGGC... |
Task1_train_9470 | A sequence alteration has been identified in SLC22A5 (solute carrier family 22 member 5) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; Renal carnitine transport defect | GGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCGATGGTTGAAGTCCCAGCATATGTGTTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGCTATTCCATGGCCACTGCCCTCTTCCTGGGTGG... | GGGTTACAGTTACTGCTGCCTTACTAGTCTCTGCTTAAAGATGGTTTGGAATTTACTGAAATAATTGCATTGTAAAAGTTGTACAGGTTGGGAAAGATGTGGATACTGCTTTTCCAGCTTTCTTCTGCACTCTGTTTCAGGATGACCATATCAGTGGGCTATTTTGGGCTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCGATGGTTGAAGTCCCAGCATATGTGTTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGCTATTCCATGGCCACTGCCCTCTTCCTGGGTGG... |
Task1_train_9471 | Here is a variant affecting IRF1 (interferon regulatory factor 1) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Non-small cell lung carcinoma | TATCTGTGTCTCAGACTATGCCCAGTCTTCCTCCTTGGGCTATCAGCAGCCAGAGGGTAGAGTGGGCACAGACTGGGCAGCAGAGAACAGTTACTAAATGGGTGGGCTGACTGTTCTGAGATGGGCCTAGAGCTCCATCTCTCAAGGATAAAGGAGGCCACCAACCACATGAGGCTTGGACCAAGGGCCTTGGTCAACACGAAGAAAAAGGCAGACCTGGGTCTCTTTCAGTGCCCTGGCTTACAGCTGCTTTTCACAGATGCTTTTGCCAGGGAGAACTTTCATCTAGCCACAAACCCCCTGAAGCCACACACTTTCTA... | TATCTGTGTCTCAGACTATGCCCAGTCTTCCTCCTTGGGCTATCAGCAGCCAGAGGGTAGAGTGGGCACAGACTGGGCAGCAGAGAACAGTTACTAAATGGGTGGGCTGACTGTTCTGAGATGGGCCTAGAGCTCCATCTCTCAAGGATAAAGGAGGCCACCAACCACATGAGGCTTGGACCAAGGGCCTTGGTCAACACGAAGAAAAAGGCAGACCTGGGTCTCTTTCAGTGCCCTGGCTTACAGCTGCTTTTCACAGATGCTTTTGCCAGGGAGAACTTTCATCTAGCCACAAACCCCCTGAAGCCACACACTTTCTA... |
Task1_train_9472 | A variant was discovered on Chromosome 5, affecting IRF1 (interferon regulatory factor 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Gastric cancer | CTCAGACTATGCCCAGTCTTCCTCCTTGGGCTATCAGCAGCCAGAGGGTAGAGTGGGCACAGACTGGGCAGCAGAGAACAGTTACTAAATGGGTGGGCTGACTGTTCTGAGATGGGCCTAGAGCTCCATCTCTCAAGGATAAAGGAGGCCACCAACCACATGAGGCTTGGACCAAGGGCCTTGGTCAACACGAAGAAAAAGGCAGACCTGGGTCTCTTTCAGTGCCCTGGCTTACAGCTGCTTTTCACAGATGCTTTTGCCAGGGAGAACTTTCATCTAGCCACAAACCCCCTGAAGCCACACACTTTCTAAGATCTTGG... | CTCAGACTATGCCCAGTCTTCCTCCTTGGGCTATCAGCAGCCAGAGGGTAGAGTGGGCACAGACTGGGCAGCAGAGAACAGTTACTAAATGGGTGGGCTGACTGTTCTGAGATGGGCCTAGAGCTCCATCTCTCAAGGATAAAGGAGGCCACCAACCACATGAGGCTTGGACCAAGGGCCTTGGTCAACACGAAGAAAAAGGCAGACCTGGGTCTCTTTCAGTGCCCTGGCTTACAGCTGCTTTTCACAGATGCTTTTGCCAGGGAGAACTTTCATCTAGCCACAAACCCCCTGAAGCCACACACTTTCTAAGATCTTGG... |
Task1_train_9473 | Consider this mutation in RAD50 (RAD50 double strand break repair protein) on Chromosome 5. Is this a benign change or a disease-causing variant? | Pathogenic; Nijmegen breakage syndrome-like disorder | AGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTCATGGGTGCAGCAAACCACCATGGCACGTGTATACCTATGTAACAAACCCACACGTTCTGCACGTGTATCCCAGAACTTAAAGCATAAAAATAAATAAATAATTAAAAAATTTTAAAAAACTATAGGTCTGTTGCCACAGGTCAGGTTGGCATTTCTTGGTCATAGTTTGCATTTTTAAAAAATCATTAAGTAATAGCCACTTGAGTTTCTGGTTATTCTTTAAGTTTATAATAAGACTCCTATTAGAGACCAGTTTAATTTATTCTACTGCTTTGTC... | AGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTCATGGGTGCAGCAAACCACCATGGCACGTGTATACCTATGTAACAAACCCACACGTTCTGCACGTGTATCCCAGAACTTAAAGCATAAAAATAAATAAATAATTAAAAAATTTTAAAAAACTATAGGTCTGTTGCCACAGGTCAGGTTGGCATTTCTTGGTCATAGTTTGCATTTTTAAAAAATCATTAAGTAATAGCCACTTGAGTTTCTGGTTATTCTTTAAGTTTATAATAAGACTCCTATTAGAGACCAGTTTAATTTATTCTACTGCTTTGTC... |
Task1_train_9474 | This sequence change occurs on Chromosome 5, altering LOC126807509, UQCRQ (BRD4-independent group 4 enhancer GRCh37_chr5:132201613-132202812| ubiquinol-cytochrome c reductase complex III subunit VII). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TTCATGACGATACTCAGATCTGCTGGTATGCAACTTATGGTATTAGGTTTACTCTTCCTCTCAATTTATCCTCACGGCCTTTTCCACTTCCAGGTGTTTACAATTGTAATTATTCGCTGCATGTTAATTTGCGAATTTACAAATTTGGGTGAGAAAGTCACAATTGGCATAGAAGTTCCAGAAAGCAGAAAACCATTAGGTCTCTCAGTCCTCCCAGGTGGCTGGGTACAGAATACGTACTTGGAGTACTGGAATTGTATTTGCGATGTTCTTAAAAGAGGACACCGCCTTTAACCTTGACTTATTTTTAAATGTAACAT... | TTCATGACGATACTCAGATCTGCTGGTATGCAACTTATGGTATTAGGTTTACTCTTCCTCTCAATTTATCCTCACGGCCTTTTCCACTTCCAGGTGTTTACAATTGTAATTATTCGCTGCATGTTAATTTGCGAATTTACAAATTTGGGTGAGAAAGTCACAATTGGCATAGAAGTTCCAGAAAGCAGAAAACCATTAGGTCTCTCAGTCCTCCCAGGTGGCTGGGTACAGAATACGTACTTGGAGTACTGGAATTGTATTTGCGATGTTCTTAAAAGAGGACACCGCCTTTAACCTTGACTTATTTTTAAATGTAACAT... |
Task1_train_9475 | This variant lies on Chromosome 5 and affects the gene AFF4 (ALF transcription elongation factor 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | TCAGTAGATTTTTAGTATTTGCTTCACAGATTTAAAAACATTATTAAAAGTATTTATGACCCCACTACTCTAAATCAGTACACTGGTTAGAATCTTTGGATTAATTTCCTTAAATATAAATTTTTCAAGCACCAGAAAATTTTAATCACCAAACTATACAAAGCTGGGGGAACTTTATAGTTTTCAAAGGTTTTAAGTTTTTTATCCTATATTTTAGATTAGAAATAATTTTTAGAATGTAATTTTTCAGGTGTGCAGCTTGTCTAAAAATTTAATCTTACCTATATATAAAACATATCATGATACTGAGATACATCATT... | TCAGTAGATTTTTAGTATTTGCTTCACAGATTTAAAAACATTATTAAAAGTATTTATGACCCCACTACTCTAAATCAGTACACTGGTTAGAATCTTTGGATTAATTTCCTTAAATATAAATTTTTCAAGCACCAGAAAATTTTAATCACCAAACTATACAAAGCTGGGGGAACTTTATAGTTTTCAAAGGTTTTAAGTTTTTTATCCTATATTTTAGATTAGAAATAATTTTTAGAATGTAATTTTTCAGGTGTGCAGCTTGTCTAAAAATTTAATCTTACCTATATATAAAACATATCATGATACTGAGATACATCATT... |
Task1_train_9476 | Here is a variant affecting PPP2CA (protein phosphatase 2 catalytic subunit alpha) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Houge-Janssens syndrome 3 | GAGAATGGTGTGAACCCGGGAGGCAGAGCTTGCAGTCAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAACAAACAAACAACAAAAAAACACAAAACATGGTTTTAAAAGTGAAAAACCTAGTAATTCATACGAAGATCTATATATAATAAGTTCCTGTTGGTGTGTTTCAATGTAGATCCATTAAAAAAAAAACAAAACTTAAAAATAAAAGTTGGAATCTGACATAGCATAATCCCTTAATAAACACTTTTTTGAGACGAAGTCTCGCTCTGTTGCCCAGGCTGGAACGC... | GAGAATGGTGTGAACCCGGGAGGCAGAGCTTGCAGTCAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAACAAACAAACAACAAAAAAACACAAAACATGGTTTTAAAAGTGAAAAACCTAGTAATTCATACGAAGATCTATATATAATAAGTTCCTGTTGGTGTGTTTCAATGTAGATCCATTAAAAAAAAAACAAAACTTAAAAATAAAAGTTGGAATCTGACATAGCATAATCCCTTAATAAACACTTTTTTGAGACGAAGTCTCGCTCTGTTGCCCAGGCTGGAACGC... |
Task1_train_9477 | Here’s a variant in SAR1B (secretion associated Ras related GTPase 1B) located on Chromosome 5. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Chylomicron retention disease | GGAAGAAGAAATCAATAGGCTGCAATGTCATGTTCTACTTTTCCCATAGTGTTACTGAGGTTTCCAGGAAGGGAGGGAGCACTTTTGTTTTCATTTAGAAAGAAGATGAAAGTGAAAACAGAATAGTCAGATTACTGAAACCAAATGTCATCTTAAGAAGCGACCTTGTCAGCTTAGCTAAATAGTAATTCCTTCCAGTCATATTCCTCAATCCTTATCTGCTTCATAGGTTATATTATCAATGACAAAAAGGACTGTAACTCTGACATGGACAATGGCTACAGAAAACACTAATTTTTGATATTAAAATTATTCTTGAT... | GGAAGAAGAAATCAATAGGCTGCAATGTCATGTTCTACTTTTCCCATAGTGTTACTGAGGTTTCCAGGAAGGGAGGGAGCACTTTTGTTTTCATTTAGAAAGAAGATGAAAGTGAAAACAGAATAGTCAGATTACTGAAACCAAATGTCATCTTAAGAAGCGACCTTGTCAGCTTAGCTAAATAGTAATTCCTTCCAGTCATATTCCTCAATCCTTATCTGCTTCATAGGTTATATTATCAATGACAAAAAGGACTGTAACTCTGACATGGACAATGGCTACAGAAAACACTAATTTTTGATATTAAAATTATTCTTGAT... |
Task1_train_9478 | Given a variant located on Chromosome 5 and affecting SAR1B (secretion associated Ras related GTPase 1B), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; SAR1B-related disorder | GGCTGCAATGTCATGTTCTACTTTTCCCATAGTGTTACTGAGGTTTCCAGGAAGGGAGGGAGCACTTTTGTTTTCATTTAGAAAGAAGATGAAAGTGAAAACAGAATAGTCAGATTACTGAAACCAAATGTCATCTTAAGAAGCGACCTTGTCAGCTTAGCTAAATAGTAATTCCTTCCAGTCATATTCCTCAATCCTTATCTGCTTCATAGGTTATATTATCAATGACAAAAAGGACTGTAACTCTGACATGGACAATGGCTACAGAAAACACTAATTTTTGATATTAAAATTATTCTTGATGGAATTGGTTAAATATA... | GGCTGCAATGTCATGTTCTACTTTTCCCATAGTGTTACTGAGGTTTCCAGGAAGGGAGGGAGCACTTTTGTTTTCATTTAGAAAGAAGATGAAAGTGAAAACAGAATAGTCAGATTACTGAAACCAAATGTCATCTTAAGAAGCGACCTTGTCAGCTTAGCTAAATAGTAATTCCTTCCAGTCATATTCCTCAATCCTTATCTGCTTCATAGGTTATATTATCAATGACAAAAAGGACTGTAACTCTGACATGGACAATGGCTACAGAAAACACTAATTTTTGATATTAAAATTATTCTTGATGGAATTGGTTAAATATA... |
Task1_train_9479 | A genetic alteration is present in SAR1B (secretion associated Ras related GTPase 1B) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Chylomicron retention disease | TGCCACTGCACTTCAGCCTAGGCAACAGAGTGAGACTCTGTCTCAAAAAAGGAAAAAAAAAAAATTAGAGTCATTATTAAAAAACATTATTTTTGGCCAAGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGTGGGCGGATCATCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATACAAAACATTAGCTGGGTGTGGTAGCACATGCCTGTAATCTGAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGAAGGCAGAGGTTGCAG... | TGCCACTGCACTTCAGCCTAGGCAACAGAGTGAGACTCTGTCTCAAAAAAGGAAAAAAAAAAAATTAGAGTCATTATTAAAAAACATTATTTTTGGCCAAGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGTGGGCGGATCATCTGAGGTCGGGAGTTTGAGACCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATACAAAACATTAGCTGGGTGTGGTAGCACATGCCTGTAATCTGAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGAAGGCAGAGGTTGCAG... |
Task1_train_9480 | This sequence variant lies in TXNDC15 (thioredoxin domain containing 15) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Meckel syndrome 14 | CTCAACAGTGGGCCTAAAATACTCAGGAAACCATGCTGTAAACAGATGTACTGTCATCCAGGCTTTGTTGTTCCTTTTCTAGAGCACAGGCAAAATAAATTTAGCATAATTTTTAAAGGCCCCAGGATCTTCAGAATGGGCAATGAGCAATGAGCATTGGCCCTGTGGTTGCTCATACCTGTAATCCCAGTACTTTCAGAGGCCAAGGTGGGTGGATTGCTTAAACCTAGGAGTTCCAGACCAGCCTGGGGAACATGGTGAAACCTTATCTCTACAAAAAATACAAAAACTTGCCAGGCATGGTGGTGGGCACCAGCTAC... | CTCAACAGTGGGCCTAAAATACTCAGGAAACCATGCTGTAAACAGATGTACTGTCATCCAGGCTTTGTTGTTCCTTTTCTAGAGCACAGGCAAAATAAATTTAGCATAATTTTTAAAGGCCCCAGGATCTTCAGAATGGGCAATGAGCAATGAGCATTGGCCCTGTGGTTGCTCATACCTGTAATCCCAGTACTTTCAGAGGCCAAGGTGGGTGGATTGCTTAAACCTAGGAGTTCCAGACCAGCCTGGGGAACATGGTGAAACCTTATCTCTACAAAAAATACAAAAACTTGCCAGGCATGGTGGTGGGCACCAGCTAC... |
Task1_train_9481 | A sequence alteration has been identified in PITX1 (paired like homeodomain 1) on Chromosome 5. Is it disease-inducing or harmless? | Pathogenic; not provided | ACGTAGCCACCCTTGCACAGGTCCAGCTGCTGGTTACGCTCGCGCTTACGCCACTTGGCTCGCCGGTTCTTGAACCAGACCTGGGGGAGGGGACGGGAGAAGGGTCAGGGCCGCTGCGGGCCGGGAGGGACCCCACCCCCTTCCCCACCGCCTGGAGCCTTCCGTCGGCCCGCTGCCCTCCGAACGTCGTTTCTCTCCTTCGACCGATATTTCCGCTCCTGCATTCCCTCCACAATGGTTCCTTTCCTGTCCCCAGAAAATACTAATTTCTTTTTCCGATCTTTATCCTCTCCCGAAATTATATCCGTTTTCTTCTCCGA... | ACGTAGCCACCCTTGCACAGGTCCAGCTGCTGGTTACGCTCGCGCTTACGCCACTTGGCTCGCCGGTTCTTGAACCAGACCTGGGGGAGGGGACGGGAGAAGGGTCAGGGCCGCTGCGGGCCGGGAGGGACCCCACCCCCTTCCCCACCGCCTGGAGCCTTCCGTCGGCCCGCTGCCCTCCGAACGTCGTTTCTCTCCTTCGACCGATATTTCCGCTCCTGCATTCCCTCCACAATGGTTCCTTTCCTGTCCCCAGAAAATACTAATTTCTTTTTCCGATCTTTATCCTCTCCCGAAATTATATCCGTTTTCTTCTCCGA... |
Task1_train_9482 | A change on Chromosome 5 affects gene TGFBI (transforming growth factor beta induced). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Epithelial-stromal TGFBI dystrophy | GACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGC... | GACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGC... |
Task1_train_9483 | This variant affects the gene TGFBI (transforming growth factor beta induced) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Epithelial-stromal TGFBI dystrophy | GACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGC... | GACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGC... |
Task1_train_9484 | This genomic variant is located on Chromosome 5, within the TGFBI (transforming growth factor beta induced) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Lattice corneal dystrophy Type I | GACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGC... | GACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGC... |
Task1_train_9485 | This variant affects the gene TGFBI (transforming growth factor beta induced) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Lattice corneal dystrophy Type I | ACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGCG... | ACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGCG... |
Task1_train_9486 | Chromosome 5 houses a mutation in gene TGFBI (transforming growth factor beta induced). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Avellino corneal dystrophy | ACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGCG... | ACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGCG... |
Task1_train_9487 | The variant affects gene TGFBI (transforming growth factor beta induced), which is on Chromosome 5. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Avellino corneal dystrophy | ACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGCG... | ACTCCAACTGTGGCCTGTCCATGCCCTTCCCAGCAGGCACAGGCTCAGGCTCAGGCTCTTGGCCTCTGCCTCTGGCTGGGAGTGATTCTAAACACATCCAGCAGGGTCAGCCTGATAGCCCATCAGTTTCCGATCAGCTCTGCTAGAGAGCCGATGGGATGTGGGAGGAGGGGGTCACTGGTGGGCTGGCAACCCCAAGCCATCCCCATCTCCCTCTGTGTCTAAACTTGGCCCTTTGGAGTTCGGTAGGGAGAAGAGCCATAGGCCAGGTGGGCTCACCCAGAGTCAGCAGAGAGTCCCACAAATGGTTGCACTGGGCG... |
Task1_train_9488 | This mutation is located in gene TGFBI (transforming growth factor beta induced) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Epithelial basement membrane dystrophy | TCTCCTCCTGACTGGTTAGATTTTCTAGGTGACTGTTCCCCTGATGACACAAGCCCGCTGGGCCCCAGCAGTGTTTAGAGGGGTTGTTGACTCACGAGATGACATTCCTGCTGATGTGTGTCATGCCCTGGGGTGGATGAATGATAAATGAAAACAGCGCTTTTAACTTTTGAACCCACTTTCTCCTTCCTTGTAGCCAAGACACTATTTGAATTGGCTGCAGAGTCTGATGTGTCCACAGCCATTGACCTTTTCAGACAAGCCGGCCTCGGCAATCATCTCTCTGGAAGTGAGCGGTTGACCCTCCTGGCTCCCCTGAA... | TCTCCTCCTGACTGGTTAGATTTTCTAGGTGACTGTTCCCCTGATGACACAAGCCCGCTGGGCCCCAGCAGTGTTTAGAGGGGTTGTTGACTCACGAGATGACATTCCTGCTGATGTGTGTCATGCCCTGGGGTGGATGAATGATAAATGAAAACAGCGCTTTTAACTTTTGAACCCACTTTCTCCTTCCTTGTAGCCAAGACACTATTTGAATTGGCTGCAGAGTCTGATGTGTCCACAGCCATTGACCTTTTCAGACAAGCCGGCCTCGGCAATCATCTCTCTGGAAGTGAGCGGTTGACCCTCCTGGCTCCCCTGAA... |
Task1_train_9489 | A genetic alteration is present in TGFBI (transforming growth factor beta induced) on Chromosome 5. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Corneal dystrophy, lattice type 3A | TGGACCTAACCATCACCCTTTCTTGTAGATGGAACCCCTCCAATTGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGA... | TGGACCTAACCATCACCCTTTCTTGTAGATGGAACCCCTCCAATTGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGA... |
Task1_train_9490 | A variant was discovered in gene TGFBI (transforming growth factor beta induced), Chromosome 5. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Reis-Bucklers' corneal dystrophy | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... |
Task1_train_9491 | The following genetic variant occurs in TGFBI (transforming growth factor beta induced) on Chromosome 5. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Avellino corneal dystrophy | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... |
Task1_train_9492 | This is a variant in TGFBI (transforming growth factor beta induced), located on Chromosome 5. Is this mutation a likely cause of disease or not? | Pathogenic; Epithelial basement membrane dystrophy | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... |
Task1_train_9493 | Here is a variant affecting TGFBI (transforming growth factor beta induced) on Chromosome 5. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Lattice corneal dystrophy Type I | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... |
Task1_train_9494 | This mutation is located in gene TGFBI (transforming growth factor beta induced) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Thiel-Behnke corneal dystrophy | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... |
Task1_train_9495 | Given a variant located on Chromosome 5 and affecting TGFBI (transforming growth factor beta induced), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Corneal dystrophy, lattice type 3A | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... |
Task1_train_9496 | This sequence variant lies in TGFBI (transforming growth factor beta induced) on Chromosome 5. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Groenouw corneal dystrophy type I | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... |
Task1_train_9497 | This mutation is located in gene TGFBI (transforming growth factor beta induced) on Chromosome 5. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Lattice corneal dystrophy Type I | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... |
Task1_train_9498 | A mutation on Chromosome 5 affecting TGFBI (transforming growth factor beta induced) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Groenouw corneal dystrophy type I | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... | TGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTG... |
Task1_train_9499 | This variant affects the gene TGFBI (transforming growth factor beta induced) found on Chromosome 5. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Thiel-Behnke corneal dystrophy | GATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTGG... | GATGCCCATACAAGGAATTTGCTTCGGAACCACATAATTAAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCGTAATGTAAGTTCTGGGTCCTAAATCATGCTCCTGGGAAGCTCCTTACTGTGGGACTTGTATTAGTGTAAAAAAAAATGTCCTCAATAAGCAGGAGTTTGCATGAGAACTGGTTGCTGACAAGGAAGGAAATAATTTCTGGAAAATATAGATAACAAAATGAGATCCTGCAGAAGGATTGGAATCTCTTTTTCTGG... |
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