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_11200 | The gene PSPH (phosphoserine phosphatase) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Deficiency of phosphoserine phosphatase | GACCCCAGGAGTTCAACGCTGTAGTAAGCCATGATTATACTACTGTACTCCAACATGGGCAACAGAATGAGACGCTGACTCTAAAAAAAATAATAATAGGCCGGGTGCAGTGGCTCACAGCTATAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCATTTGAGGTCAAGAGTTCAAGCAGTGTGGTCAACATGGCGAAACCCATCTCTACTAAAAATACAAAAATTACCTAGGTGTGCTGGTGGGCACCTGTAATCCCATCTACTCGGGAGGCTGAGGCAGGAGAATTGCATGAACTTGGGAGGCAGAAGCTGCAG... | GACCCCAGGAGTTCAACGCTGTAGTAAGCCATGATTATACTACTGTACTCCAACATGGGCAACAGAATGAGACGCTGACTCTAAAAAAAATAATAATAGGCCGGGTGCAGTGGCTCACAGCTATAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCATTTGAGGTCAAGAGTTCAAGCAGTGTGGTCAACATGGCGAAACCCATCTCTACTAAAAATACAAAAATTACCTAGGTGTGCTGGTGGGCACCTGTAATCCCATCTACTCGGGAGGCTGAGGCAGGAGAATTGCATGAACTTGGGAGGCAGAAGCTGCAG... |
Task1_train_11201 | A variant was discovered on Chromosome 7, affecting CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | AGCCTGAGTGTTTTAGGAAGAGGAGGCTACAACACCTTAAACAGAGCAAAAGCACCTTCAGGGGAACTGCATATATTAAGAATGGTTTTTTATCTTCAATCAGGGGCGTCCAAGGGAGAGAATGCAGTCATGGGTTTAGTTACAGTTTATGGTTAGGCCAGTAAAACCCCTTCCTCATCGCTCTTTTCCACTTATCACTAGAGACAAACTATAACTCCAGGCTGCTAAAAGCCTAAAGCAAAAGAAAACAGAACAAAAGGTGGGTTGCACAAGCTTGCTTGGAAACAGTAGAGGAATAGTGATACGCAGTGCTGACCTAG... | AGCCTGAGTGTTTTAGGAAGAGGAGGCTACAACACCTTAAACAGAGCAAAAGCACCTTCAGGGGAACTGCATATATTAAGAATGGTTTTTTATCTTCAATCAGGGGCGTCCAAGGGAGAGAATGCAGTCATGGGTTTAGTTACAGTTTATGGTTAGGCCAGTAAAACCCCTTCCTCATCGCTCTTTTCCACTTATCACTAGAGACAAACTATAACTCCAGGCTGCTAAAAGCCTAAAGCAAAAGAAAACAGAACAAAAGGTGGGTTGCACAAGCTTGCTTGGAAACAGTAGAGGAATAGTGATACGCAGTGCTGACCTAG... |
Task1_train_11202 | Consider this mutation in CHCHD2 (coiled-coil-helix-coiled-coil-helix domain containing 2) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | GTCACTTACATCCAGTAATCACAGTAAGATCTGGCATACTGATTTATACCTTCTTTTTTTTTTTTTTCTTTTAAATTTGAGACAGTGTCTCCCACTGGAGACACCCAGTTGCCCAGGCTGGAATGCAGTGGCAGGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGCCTCAAACTCCTGACATCAGGTGATCCACCCG... | GTCACTTACATCCAGTAATCACAGTAAGATCTGGCATACTGATTTATACCTTCTTTTTTTTTTTTTTCTTTTAAATTTGAGACAGTGTCTCCCACTGGAGACACCCAGTTGCCCAGGCTGGAATGCAGTGGCAGGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTACAGATGGGGTTTTGCCATGTTGGCCAGGCTGGCCTCAAACTCCTGACATCAGGTGATCCACCCG... |
Task1_train_11203 | This alteration in GUSB (glucuronidase beta) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mucopolysaccharidosis type 7 | TGAGCCATACTTCACGGAATAGAACAAGTGTGTTCTGTGCTGGAGCTCAAGACCTGTGGAAAGGGACTGCCCCCACTGGGTGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTAGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTGCCTCTACTGAAAAATACAGAAAAATTAGCCAGGATTGTGGTGTGCGCCTGTAATCCCAGCTATTCAGGAAGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGACGAGATCACGCCACTG... | TGAGCCATACTTCACGGAATAGAACAAGTGTGTTCTGTGCTGGAGCTCAAGACCTGTGGAAAGGGACTGCCCCCACTGGGTGCAATGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTAGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCTGCCTCTACTGAAAAATACAGAAAAATTAGCCAGGATTGTGGTGTGCGCCTGTAATCCCAGCTATTCAGGAAGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGACGAGATCACGCCACTG... |
Task1_train_11204 | A sequence alteration has been identified in GUSB (glucuronidase beta) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Mucopolysaccharidosis type 7 | TCAGGACATTCTCTGTCCCCAGTAAGACCACCACTAAATGGAAATGTTAAATGGAAAGGGGGCTTTCCCCACCAAAAGGTTCAAGACTGTTTCTTCCATAAGTGAACACAGGCATCGCCAAGTACTTCATCAAATGCAGCCCTTACGACACCAACAAGGAGGTGGCATTATCCCCACTGGACAGGCTTATGAAAAGCTTAGGTGACTTGCCCAACGTGATGCAGCTCATTTCTTTTTTCTTTTTAAGACCGAGTTTCAGCTGGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGATGTGCGGATCA... | TCAGGACATTCTCTGTCCCCAGTAAGACCACCACTAAATGGAAATGTTAAATGGAAAGGGGGCTTTCCCCACCAAAAGGTTCAAGACTGTTTCTTCCATAAGTGAACACAGGCATCGCCAAGTACTTCATCAAATGCAGCCCTTACGACACCAACAAGGAGGTGGCATTATCCCCACTGGACAGGCTTATGAAAAGCTTAGGTGACTTGCCCAACGTGATGCAGCTCATTTCTTTTTTCTTTTTAAGACCGAGTTTCAGCTGGCCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGATGTGCGGATCA... |
Task1_train_11205 | The gene GUSB (glucuronidase beta) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mucopolysaccharidosis type 7 | TTCTGCCTGCTGCAGACTTGGCTCAGCCCAAAGCACTGCATGAAATTGGGGTGTGCTGTATGAGTCAAGAGGCATTTCTACCACCTCTCCTGCTTCTACCCCAAGTGAAAAATCCAACTCTGAACGCTGAGTTAGAACTGCACGATTGTAAGGAAGAAAAGGGGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAAGGTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTCCACGCCAGCCTGGCAAACATGGTGAAACCCAGTCTCTAATTAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCA... | TTCTGCCTGCTGCAGACTTGGCTCAGCCCAAAGCACTGCATGAAATTGGGGTGTGCTGTATGAGTCAAGAGGCATTTCTACCACCTCTCCTGCTTCTACCCCAAGTGAAAAATCCAACTCTGAACGCTGAGTTAGAACTGCACGATTGTAAGGAAGAAAAGGGGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAAGGTGAGGCAGGAGGATCACTAGAGGCCAGGAGTTCCACGCCAGCCTGGCAAACATGGTGAAACCCAGTCTCTAATTAGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCA... |
Task1_train_11206 | The gene GUSB (glucuronidase beta) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mucopolysaccharidosis type 7 | GTCAATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGA... | GTCAATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGA... |
Task1_train_11207 | This is a variant in GUSB (glucuronidase beta), located on Chromosome 7. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis type 6 | ATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCC... | ATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCC... |
Task1_train_11208 | Chromosome 7 houses a mutation in gene GUSB (glucuronidase beta). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Mucopolysaccharidosis type 7 | ATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCC... | ATAATCTCACCACTGCACTCCAGCCTGGGCCACAGTGCAAGCCTCATCTCAGAAAAAGAAAAAGATATATATATATTTTTTTATTTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCC... |
Task1_train_11209 | A genetic alteration is present in GUSB (glucuronidase beta) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Mucopolysaccharidosis type 7 | TTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCCCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGCCCTGAAAAAGATATATTTTTAAAAAGAAAA... | TTTTATTTTTTGACATGGAGTCTCGCTCTGTCCCCTAGGCTGGAGTGCAGTGATGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTCGCTGGGACTACAGGCCCCTGCCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAGACGGAGTTTCACCATGTTAGTCAGGATGGTCGCGATCTCCTGACCTCGTGATCCCCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGCCCTGAAAAAGATATATTTTTAAAAAGAAAA... |
Task1_train_11210 | This alteration in GUSB (glucuronidase beta) on Chromosome 7 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | CATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGG... | CATACATGCCGTGGGTGGCAGCTGGAGGTCCCATGCTGTTCAGCAGCCGTGCCCCCCCACCCGCCCTGCCTGCTCCTGGCCGCACTGACCACGATGGCATAGGAATGGGCACTGCCAATCCTCAGCACCACTCTTGTGCGCAGGTCCTGGGTCCATCGCTCCGGCAGGATCACCTCCCGTTCGTACCACACCCAGCCGACAAAATGCCGCAGACGCCAGTCCTGGCTGATGTCATTGAAGCTGGAGGGAACTGGCATGTCCACGGTGGGGCCTGACTGTGGAGAGAAGAGCCGGGCTCAGCTCCTAGGCCCCCAAAAGGG... |
Task1_train_11211 | A variant on Chromosome 7 in gene ASL (argininosuccinate lyase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Argininosuccinate lyase deficiency | CACCTTAGCCTTCCAAAATGCTGGGATTACAGGCATGAGCCACCACTCCCAGTCCTATAAAATTTTAAAAAAATGTCTGGGTGTGGTGGCGCATGCTTGTAGTCCCAACTATTGGGGAGGCTGAGGCAAGAGGATTGGTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCTATGATGGTGCCACCGCACTCCAACCTGGGTAACAAAGTGAGACCCTGTGTCTAAAAAAGAATTTAAAGGCCGGGTGTGGTGGCTCACACCCGTAATCCCAGGACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGATTAAGACCAT... | CACCTTAGCCTTCCAAAATGCTGGGATTACAGGCATGAGCCACCACTCCCAGTCCTATAAAATTTTAAAAAAATGTCTGGGTGTGGTGGCGCATGCTTGTAGTCCCAACTATTGGGGAGGCTGAGGCAAGAGGATTGGTTGAGACCAGGAGTTTGAGGCTGCAGTGAGCTATGATGGTGCCACCGCACTCCAACCTGGGTAACAAAGTGAGACCCTGTGTCTAAAAAAGAATTTAAAGGCCGGGTGTGGTGGCTCACACCCGTAATCCCAGGACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGATTAAGACCAT... |
Task1_train_11212 | A variant affecting Chromosome 7, within the gene ASL (argininosuccinate lyase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Argininosuccinate lyase deficiency | AAGAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAATTAAAAAAGATTTTTTTAATGAACAAAACAGGCTCGGCACAGTGGCTCATGCCTGTAATCCCAAGCACTTCGGGATGCCAAGGTCAGGGGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAACTCAGCCAGGTGTGGTGGCACACGCCTGAAATTCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGGCTTGAAGCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGC... | AAGAGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAATTAAAAAAGATTTTTTTAATGAACAAAACAGGCTCGGCACAGTGGCTCATGCCTGTAATCCCAAGCACTTCGGGATGCCAAGGTCAGGGGATCACCTGAGATCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATATAAAACTCAGCCAGGTGTGGTGGCACACGCCTGAAATTCCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGGCTTGAAGCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGC... |
Task1_train_11213 | A mutation found in ASL (argininosuccinate lyase) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Argininosuccinate lyase deficiency | GCCCTGGCTATCCCACCCCAGGTGAGAGCAGGCTGCTCTGTGCCTCAGTTTCCCCATCTTCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTT... | GCCCTGGCTATCCCACCCCAGGTGAGAGCAGGCTGCTCTGTGCCTCAGTTTCCCCATCTTCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTT... |
Task1_train_11214 | The gene ASL (argininosuccinate lyase) is located on Chromosome 7, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Argininosuccinate lyase deficiency | TCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGC... | TCATAGTGGAATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGC... |
Task1_train_11215 | This variant affects the gene ASL (argininosuccinate lyase) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Argininosuccinate lyase deficiency | ATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGT... | ATTGTATTGGTGCCTACCCAGAGGGTTGTGTCAACAATTAGGATGGCACCTAGCACCTTGGTCAGTGGTGGGAAAGGTTCCAGAAGTTCTGCTGTGGTCCCAGGGGTGTCTCAGGCCCTGCCATCATCTCCTTGGAGGGGTGCCATGTGGTGGGAAAGAACCCCAACTTCAAGGCCACACACAGTGGCTCATGCCTGTAATCCTAGCACTTTCAGAGGCCAAGATGGGAGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAATGATACAAAAATTAGCTGGGTGTGGT... |
Task1_train_11216 | A change on Chromosome 7 affects gene ASL (argininosuccinate lyase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Argininosuccinate lyase deficiency | CTCACTGCAGTCTCAAACTCCTGGACTCAAATGATCCTCCCACCTCAGCTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTC... | CTCACTGCAGTCTCAAACTCCTGGACTCAAATGATCCTCCCACCTCAGCTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTC... |
Task1_train_11217 | This genomic variant is located on Chromosome 7, within the ASL (argininosuccinate lyase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not specified | CTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCC... | CTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCC... |
Task1_train_11218 | A genetic alteration is present in ASL (argininosuccinate lyase) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Argininosuccinate lyase deficiency | CTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCC... | CTTTCTGAGTAGCTAGGACCACAGGTGTGCACCACCTGTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCCACTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCC... |
Task1_train_11219 | Located on Chromosome 7, this mutation impacts ASL (argininosuccinate lyase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Argininosuccinate lyase deficiency | TCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGT... | TCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGT... |
Task1_train_11220 | Consider this mutation in ASL (argininosuccinate lyase) on Chromosome 7. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | TCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGT... | TCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGT... |
Task1_train_11221 | Located on Chromosome 7, this mutation impacts ASL (argininosuccinate lyase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Inborn genetic diseases | TCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACC... | TCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACC... |
Task1_train_11222 | This genomic variant is located on Chromosome 7, within the ASL (argininosuccinate lyase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Argininosuccinate lyase deficiency | TCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACC... | TCCTGCCTCAGCCTCCCGAGTAGCTGGGAGTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCCGACCTCATGATCCACCCACCTCGGACTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCGCGAATTCTTTAAATTTTTTGTAGAAACAGGGTCTCACTATGTGGCTCAGGCTGGTCTCAAACTCCCGGCCTTAAGTGATCCTTCCCTCTTGGCCTCCCAAAGTGCTGGGATTAAAGACTTGAGCCACC... |
Task1_train_11223 | An alteration has been detected in ASL (argininosuccinate lyase) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Argininosuccinate lyase deficiency | TGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTT... | TGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTT... |
Task1_train_11224 | This variant affects gene ASL (argininosuccinate lyase) located on Chromosome 7. Evaluate its biological effect and specify any disease association. | Pathogenic; not specified | TGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTT... | TGAAACCCCATCTCTACTAAAAATACACAAAATTAGCTGGGTGTGATGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCAGGAGAATCTCTTGGACCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACGCCACTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCTTTCTCAAAAACAACAACAACAAAAAAACAGGCCAGGTATGGTGGCTCATATCTGTAATCCCAGCCCTTTGGGAGGCCAAGGCAGGAGGACTGCCTGAAACCAGGAGTTTCAGACCACTCTGGGCAACATAGCAAGACCCCATCTTTTTT... |
Task1_train_11225 | A genetic alteration is present in ASL (argininosuccinate lyase) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not specified | TTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTG... | TTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTG... |
Task1_train_11226 | This variant impacts the gene ASL (argininosuccinate lyase) on Chromosome 7. Is the change likely to result in a pathogenic outcome? | Pathogenic; Argininosuccinate lyase deficiency | TTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTG... | TTCTCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTG... |
Task1_train_11227 | Here is a mutation in ASL (argininosuccinate lyase) on Chromosome 7. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Argininosuccinate lyase deficiency | TCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGC... | TCCTGCCTCAGCCCTCCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGC... |
Task1_train_11228 | Located on Chromosome 7, this mutation impacts ASL (argininosuccinate lyase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Argininosuccinate lyase deficiency | CCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACT... | CCTGAGTAGCTGGAACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTATAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTTACCGCGCCTGGCCACAAGACCCCATCTTTACAAAAAACTAAAAATTAGCTGGGCATGGTGGCATGTCCCTTTAGTCCCAGCTACTCAGGAGGCTGAGACAGGAGGATCGCTTGAGCCCAGGAGATCGAGGCAGCAGTGAGCTATGATCATGCCACT... |
Task1_train_11229 | A variant was discovered in gene ASL (argininosuccinate lyase), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not specified | CCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGG... | CCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGG... |
Task1_train_11230 | This genomic variant is located on Chromosome 7, within the ASL (argininosuccinate lyase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Argininosuccinate lyase deficiency | CCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGG... | CCGAGACTCTGAGCGGCTGCTGGAGGTGCGGAAGCGGATCAATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGG... |
Task1_train_11231 | Gene ASL (argininosuccinate lyase), found on Chromosome 7, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Argininosuccinate lyase deficiency | AATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGG... | AATGTCCTGCCCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTGGTGGGGGTGGCTGCTGCATAGCCTTAGGGATTGACAGAGCTGGGAAGTGCAGAGTGGGACAGAAAACCGCCTTATCTGCTCAGCGGGGGACTCTGCATGGAGCCCCAGCTCTCGCTAAGGTGACGACCAAGCCATTGAATGTGTCTGAGCAGGGCCAGAGCCCTCCAGCAAGGCTCCTGGCAAGCCCAGCCTGCTGCCCTCAGCCTGACATGTGGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGG... |
Task1_train_11232 | Given this variant in gene ASL (argininosuccinate lyase) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Argininosuccinate lyase deficiency | GGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCA... | GGGAACATGTGTCAGGAGACAAGTGTCCTGCACCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCA... |
Task1_train_11233 | Gene ASL (argininosuccinate lyase) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not specified | CCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAG... | CCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAG... |
Task1_train_11234 | A genomic change on Chromosome 7 affects ASL (argininosuccinate lyase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Argininosuccinate lyase deficiency | CCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAG... | CCCAGGGTGACTTAGTGCTTGGGGACAAGTGTTTTGTGGACACTTGGGGACAAGTATTCTGTACCCAAGGAGACTGGGCCAGGGAAGAGGCTAAGCGCCAGGTGGTTGCCCTGGCAACCAGGACTTGGTTCTCTGTGTGTGCGTTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGGCTGCCTGCCAGGAGCCCTGGTCACCATGAATCCCTGTCCCTGCAGTGGGGCCATTGCAGGCAATCCCCTGGGTGTGGACCGAGAGCTGCTCCGAGCAGGTGAGACGTCCTGCCCCTCCTCCCCAGGGAG... |
Task1_train_11235 | The gene ASL (argininosuccinate lyase) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Argininosuccinate lyase deficiency | GCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATC... | GCCACTTTGCCTGGCTGATTTCTTTTAAAATCAATTATTATGGGAAATTTATGTATATAACAGCTAGAGAATGCATAATGAACCCTATGTACCGACACCCAGCTTCAATGATAATCAACTCACGGACATCCTGGCTCCAGCTGTCTTTACCCACAGCTCTCTCCCACTCCCTTACCCCCTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATC... |
Task1_train_11236 | Gene ASL (argininosuccinate lyase) on Chromosome 7 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Argininosuccinate lyase deficiency | CTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACG... | CTTATTTTGAAGCAAATTCCCATCATCACATCATTTCATTCCTAAATAGTTCAGGATATGTCTTGAAATCAGTGTTTCTTGGCTGGGTGCAGAGCCTCATGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACG... |
Task1_train_11237 | Assess the clinical impact of this variant on gene ASL (argininosuccinate lyase), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; ASL-related disorder | TGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCA... | TGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCA... |
Task1_train_11238 | Gene ASL (argininosuccinate lyase) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Argininosuccinate lyase deficiency | TGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCA... | TGCCTGTAATCCCATCAATTTGCGAGACTAAGGTGGGCAGATCACTCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTTTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGATGGAGACTGCAGTGAGCAGAGATCACGCCACTGCGCTCCAGCCTGTGTGACAGTGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGCAGTGTTTCTGGAGGCTAGTCCCCCAACTAGCA... |
Task1_train_11239 | With a mutation on Chromosome 7 in gene KCTD7 (potassium channel tetramerization domain containing 7), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Progressive myoclonic epilepsy type 3 | TAATATTGAAAAGGATGCATGGCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAAGATCACTTGAGGTTAGGACTTTGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGCCATGCCCACCTGTAGTCCCAGCTACTTTGGAGGCTGGGGCAGCAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACCGAGATCGTGCCATTGCACTCCAGCCTGGGTGTTGCAATGAGATTCCGTCTCAAAAAAAAAAAAAAAAGATGCATAGGGATACAATTTGA... | TAATATTGAAAAGGATGCATGGCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGAAGATCACTTGAGGTTAGGACTTTGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTTGGGTGTGGCCATGCCCACCTGTAGTCCCAGCTACTTTGGAGGCTGGGGCAGCAGAATCTCTTGAACCCGGGAGGCAGAGGTTGCAGTGAACCGAGATCGTGCCATTGCACTCCAGCCTGGGTGTTGCAATGAGATTCCGTCTCAAAAAAAAAAAAAAAAGATGCATAGGGATACAATTTGA... |
Task1_train_11240 | Chromosome 7 houses a mutation in gene KCTD7 (potassium channel tetramerization domain containing 7). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Progressive myoclonic epilepsy type 3 | GGCCTCAGTCTGGGGTCGTTCCCCATTGTCATCAGCTTGCTGCACTCTGGTCTAAATGTTTCTGCTGAAGCTGGACCATGGTAGATGTGGGTGTAGAATCAGCCATGGCTGGATCTGAGCCTCTGGCAGCGGTGGCTACTTGAGCAAGCATGTTCCTGAACCTGTCTGGGCCCCACTTGAGCCTCATTTATGACATAGAGATAAGATAGCACACACCCCCAATGTCATTGAGAGGATTACATGGGATAACCCATGAATAGTGGCTGGCATGGAGTAATACTTAGCGAGTGTTAGCTGGTGTTGTATTAGGTCATAGACTA... | GGCCTCAGTCTGGGGTCGTTCCCCATTGTCATCAGCTTGCTGCACTCTGGTCTAAATGTTTCTGCTGAAGCTGGACCATGGTAGATGTGGGTGTAGAATCAGCCATGGCTGGATCTGAGCCTCTGGCAGCGGTGGCTACTTGAGCAAGCATGTTCCTGAACCTGTCTGGGCCCCACTTGAGCCTCATTTATGACATAGAGATAAGATAGCACACACCCCCAATGTCATTGAGAGGATTACATGGGATAACCCATGAATAGTGGCTGGCATGGAGTAATACTTAGCGAGTGTTAGCTGGTGTTGTATTAGGTCATAGACTA... |
Task1_train_11241 | Assess the clinical impact of this variant on gene KCTD7 (potassium channel tetramerization domain containing 7), found on Chromosome 7. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Progressive myoclonic epilepsy type 3 | CCCATTGTCATCAGCTTGCTGCACTCTGGTCTAAATGTTTCTGCTGAAGCTGGACCATGGTAGATGTGGGTGTAGAATCAGCCATGGCTGGATCTGAGCCTCTGGCAGCGGTGGCTACTTGAGCAAGCATGTTCCTGAACCTGTCTGGGCCCCACTTGAGCCTCATTTATGACATAGAGATAAGATAGCACACACCCCCAATGTCATTGAGAGGATTACATGGGATAACCCATGAATAGTGGCTGGCATGGAGTAATACTTAGCGAGTGTTAGCTGGTGTTGTATTAGGTCATAGACTAAGCTGTTATTGAGGTAGCAGC... | CCCATTGTCATCAGCTTGCTGCACTCTGGTCTAAATGTTTCTGCTGAAGCTGGACCATGGTAGATGTGGGTGTAGAATCAGCCATGGCTGGATCTGAGCCTCTGGCAGCGGTGGCTACTTGAGCAAGCATGTTCCTGAACCTGTCTGGGCCCCACTTGAGCCTCATTTATGACATAGAGATAAGATAGCACACACCCCCAATGTCATTGAGAGGATTACATGGGATAACCCATGAATAGTGGCTGGCATGGAGTAATACTTAGCGAGTGTTAGCTGGTGTTGTATTAGGTCATAGACTAAGCTGTTATTGAGGTAGCAGC... |
Task1_train_11242 | This gene mutation involves KCTD7 (potassium channel tetramerization domain containing 7) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Progressive myoclonic epilepsy type 3 | CTGGAGTGCAGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCC... | CTGGAGTGCAGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCC... |
Task1_train_11243 | An alteration has been detected in KCTD7 (potassium channel tetramerization domain containing 7) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Progressive myoclonic epilepsy type 3 | AGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCCAAATGTCCA... | AGTGGCGTGATCTTAGCTCACTGCAACCTCCACTTCCCAGGTTGAAGCAGTTCCCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGACACCCACCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCGTTTTGGCCAGGCTGGTCTTAAACTCCTGAGCTCAGATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATCACACGTGTGAGCCACCGTGCCTGGCCTAAAGGTCTTATATAGGAATGTTCATCCCAGCTTTACTCATAATAGCCAAAAACTGGAAACAACCCAAATGTCCA... |
Task1_train_11244 | This mutation occurs in SBDS (SBDS ribosome maturation factor) on Chromosome 7. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Aplastic anemia | CTCTCAATAAGGATCACGGTGTATGGTCTCTTTGTTTCAGGATTCACACATTTGTCTGCCACAATAGTTGCAATGTCCCTAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTT... | CTCTCAATAAGGATCACGGTGTATGGTCTCTTTGTTTCAGGATTCACACATTTGTCTGCCACAATAGTTGCAATGTCCCTAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTT... |
Task1_train_11245 | The gene SBDS (SBDS ribosome maturation factor), on Chromosome 7, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Shwachman-Diamond syndrome 1 | CTCTCAATAAGGATCACGGTGTATGGTCTCTTTGTTTCAGGATTCACACATTTGTCTGCCACAATAGTTGCAATGTCCCTAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTT... | CTCTCAATAAGGATCACGGTGTATGGTCTCTTTGTTTCAGGATTCACACATTTGTCTGCCACAATAGTTGCAATGTCCCTAAACATCTGCTCCAGTTGTGTGTGTCTTTCTTTATCTGATACTTGAACTTCTCCTTTAGTCAAAATCTAAAAAAATGCCAACACATTTAAGAAATCACTATCTTTCTCTATCACACACTATTTATTAACTAACCATAAAAAATGAGTAACTGGATGGAGAGAAAATTAAATTTCATCCTCTCCAGCTATCAATATGTAAGTAATGGTTTGAGCTTTGCCCAAAAGATGCAAGAATCTTTT... |
Task1_train_11246 | The gene AUTS2 (activator of transcription and developmental regulator AUTS2) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autism spectrum disorder due to AUTS2 deficiency | GGGTCGCTCGTCCACGCACTGTGGTGCCACGTGGAGGAAAAGTTTCCAACTCTGCCAGTTGGTGCTCCCACTGCGCCCAGGCGGAGCAAAGGCCCGCGCTTTGGCACCCGCTCCCCGTTCTGTCTCCTCCAGTCGCGCCCCCTCCCAGGGACGCCCCCCTTGTACCCCTTCTCTGAATTCCCTTCTCTCCTCGCAGCGCAGGTAGCCAAGGGAAAACACCCTTGGGGGCTGGTGGGGCTTCCCGAGAAGGCGGCCTCGGGCCGGCCAGGGGTAGAGGATCCAGGGACAAGTGTCCCGAGGAGGATGTGGGGGGCGCGCGC... | GGGTCGCTCGTCCACGCACTGTGGTGCCACGTGGAGGAAAAGTTTCCAACTCTGCCAGTTGGTGCTCCCACTGCGCCCAGGCGGAGCAAAGGCCCGCGCTTTGGCACCCGCTCCCCGTTCTGTCTCCTCCAGTCGCGCCCCCTCCCAGGGACGCCCCCCTTGTACCCCTTCTCTGAATTCCCTTCTCTCCTCGCAGCGCAGGTAGCCAAGGGAAAACACCCTTGGGGGCTGGTGGGGCTTCCCGAGAAGGCGGCCTCGGGCCGGCCAGGGGTAGAGGATCCAGGGACAAGTGTCCCGAGGAGGATGTGGGGGGCGCGCGC... |
Task1_train_11247 | Here’s a variant in AUTS2 (activator of transcription and developmental regulator AUTS2) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autism spectrum disorder due to AUTS2 deficiency | GGTCGCTCGTCCACGCACTGTGGTGCCACGTGGAGGAAAAGTTTCCAACTCTGCCAGTTGGTGCTCCCACTGCGCCCAGGCGGAGCAAAGGCCCGCGCTTTGGCACCCGCTCCCCGTTCTGTCTCCTCCAGTCGCGCCCCCTCCCAGGGACGCCCCCCTTGTACCCCTTCTCTGAATTCCCTTCTCTCCTCGCAGCGCAGGTAGCCAAGGGAAAACACCCTTGGGGGCTGGTGGGGCTTCCCGAGAAGGCGGCCTCGGGCCGGCCAGGGGTAGAGGATCCAGGGACAAGTGTCCCGAGGAGGATGTGGGGGGCGCGCGCG... | GGTCGCTCGTCCACGCACTGTGGTGCCACGTGGAGGAAAAGTTTCCAACTCTGCCAGTTGGTGCTCCCACTGCGCCCAGGCGGAGCAAAGGCCCGCGCTTTGGCACCCGCTCCCCGTTCTGTCTCCTCCAGTCGCGCCCCCTCCCAGGGACGCCCCCCTTGTACCCCTTCTCTGAATTCCCTTCTCTCCTCGCAGCGCAGGTAGCCAAGGGAAAACACCCTTGGGGGCTGGTGGGGCTTCCCGAGAAGGCGGCCTCGGGCCGGCCAGGGGTAGAGGATCCAGGGACAAGTGTCCCGAGGAGGATGTGGGGGGCGCGCGCG... |
Task1_train_11248 | Here’s a variant in DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Leber-like hereditary optic neuropathy, autosomal recessive 1 | CCTGGCTTTGTTTAGACCCTAGACTTGGGCCCTCATCCTTCTCGTAGACCTCTTGCGAGGATTTTCCCCTTTTACAGATTCACACTCAGTCCCGAACAGAAACACTTGAGCACCTACAATCTCACAGCCAACTCCCTGCCAACGTCCAGTGACTCACAGTTAAGAGAGCTTCAGCAGCAGCTCTGACCAAAGTGATGACCAACTACTTAACATGAATTAGAAACAGAGCAGAAAAAACACGCCTTTAGCCTGCTCTGCGTAAAGAACCAAGTCTCCACCATGAACACCAAGCCACCAACTCCCCGTCCCTCAGTAGTCCT... | CCTGGCTTTGTTTAGACCCTAGACTTGGGCCCTCATCCTTCTCGTAGACCTCTTGCGAGGATTTTCCCCTTTTACAGATTCACACTCAGTCCCGAACAGAAACACTTGAGCACCTACAATCTCACAGCCAACTCCCTGCCAACGTCCAGTGACTCACAGTTAAGAGAGCTTCAGCAGCAGCTCTGACCAAAGTGATGACCAACTACTTAACATGAATTAGAAACAGAGCAGAAAAAACACGCCTTTAGCCTGCTCTGCGTAAAGAACCAAGTCTCCACCATGAACACCAAGCCACCAACTCCCCGTCCCTCAGTAGTCCT... |
Task1_train_11249 | A mutation on Chromosome 7 affecting DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Leber-like hereditary optic neuropathy, autosomal recessive 1 | TTTACAGATTCACACTCAGTCCCGAACAGAAACACTTGAGCACCTACAATCTCACAGCCAACTCCCTGCCAACGTCCAGTGACTCACAGTTAAGAGAGCTTCAGCAGCAGCTCTGACCAAAGTGATGACCAACTACTTAACATGAATTAGAAACAGAGCAGAAAAAACACGCCTTTAGCCTGCTCTGCGTAAAGAACCAAGTCTCCACCATGAACACCAAGCCACCAACTCCCCGTCCCTCAGTAGTCCTGTGTACTCCCAAAGCCCCAAAATTTACCCCAGCCTCAAGCAGCCTTGTTTAAAAAATTAAGGAAGGGCCT... | TTTACAGATTCACACTCAGTCCCGAACAGAAACACTTGAGCACCTACAATCTCACAGCCAACTCCCTGCCAACGTCCAGTGACTCACAGTTAAGAGAGCTTCAGCAGCAGCTCTGACCAAAGTGATGACCAACTACTTAACATGAATTAGAAACAGAGCAGAAAAAACACGCCTTTAGCCTGCTCTGCGTAAAGAACCAAGTCTCCACCATGAACACCAAGCCACCAACTCCCCGTCCCTCAGTAGTCCTGTGTACTCCCAAAGCCCCAAAATTTACCCCAGCCTCAAGCAGCCTTGTTTAAAAAATTAAGGAAGGGCCT... |
Task1_train_11250 | A variant was discovered on Chromosome 7, affecting ELN (elastin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | AGTGGCCCTTCCTCCCTCTCTCCCCCACTACGCTGAAAGCCAAGGCTGCCCAGCCCCAGGGGAGACAGGAGAGGTGGAAGACGCTGGCATGGTCCCAGCTGTAGCTGGATGGCTGCTTTGGGGGTCTGGGTTGTGAGCGAGAGCCCCAGAGAGCATGGGCCTCCCTGGTCTACGGGCGAGTGGCACCGCGCAGCAGCTGTCCCTCTCTTTACCTTTTCTGCGGAGGGTGGTCGAGACGGCTTTTGTGATTAACTCCAGCATAGAGATGAGGCTGACTGAGGCACCAGCTCACATGGCTGGGAAATAGGATTAAAACTCAG... | AGTGGCCCTTCCTCCCTCTCTCCCCCACTACGCTGAAAGCCAAGGCTGCCCAGCCCCAGGGGAGACAGGAGAGGTGGAAGACGCTGGCATGGTCCCAGCTGTAGCTGGATGGCTGCTTTGGGGGTCTGGGTTGTGAGCGAGAGCCCCAGAGAGCATGGGCCTCCCTGGTCTACGGGCGAGTGGCACCGCGCAGCAGCTGTCCCTCTCTTTACCTTTTCTGCGGAGGGTGGTCGAGACGGCTTTTGTGATTAACTCCAGCATAGAGATGAGGCTGACTGAGGCACCAGCTCACATGGCTGGGAAATAGGATTAAAACTCAG... |
Task1_train_11251 | A variant affecting Chromosome 7, within the gene ELN (elastin), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Supravalvar aortic stenosis | AATCCACCCATCCATCACTCCCTCCATCGATTCTTCCATCCATCCATCTGCCCATTCTTCCATGCATCCCTCCATCCATTCCTCCATGCACCCACCCATCCATTTCTCCATGCATGCATCCATCCTTCCATCCATTCATCCATCCATCCATCCATCCATCTATTCCTCCATGCATCCATCCACCCATCCATCCATTTCTCCATGCATCCTTCCATCCATCCATCCATCCATCCATCCATCCATCCACTCACCCATCTATCCATCCATCCATCCATCTACCCATCAATTCTTCCTTCCATCCATTCTTCCCTCTATCCATC... | AATCCACCCATCCATCACTCCCTCCATCGATTCTTCCATCCATCCATCTGCCCATTCTTCCATGCATCCCTCCATCCATTCCTCCATGCACCCACCCATCCATTTCTCCATGCATGCATCCATCCTTCCATCCATTCATCCATCCATCCATCCATCCATCTATTCCTCCATGCATCCATCCACCCATCCATCCATTTCTCCATGCATCCTTCCATCCATCCATCCATCCATCCATCCATCCATCCACTCACCCATCTATCCATCCATCCATCCATCTACCCATCAATTCTTCCTTCCATCCATTCTTCCCTCTATCCATC... |
Task1_train_11252 | This sequence change occurs on Chromosome 7, altering LOC106029312, NCF1 (Williams-Beuren syndrome medial block B recombination region| neutrophil cytosolic factor 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CCACAGTGCTAGGATTACAAGCGTGAGCTACCGTGCCTAGTCACTTTTCTCCTTTTCTTTGTAACTTTCAGTTTTGAAATTTCAAATTTACAGAAAGGCTACTGGGTGTCAAAACGGTACCAGTCACTCCAATAGTCTTTCACTCACCTTCATCCACACCTCTCTTTCTGGGGATATTTTCTGAATTATTTGAGAGTGAGTTGAAGACGTGTTTCTTTACCTCTAAATACTAGTTGTTGGGCATTTCTTAAAATCAAGGCATTCTCTTACATAATCACAACACACGTGTCAAAATCAGGAAATTAACATGGACAAAACAC... | CCACAGTGCTAGGATTACAAGCGTGAGCTACCGTGCCTAGTCACTTTTCTCCTTTTCTTTGTAACTTTCAGTTTTGAAATTTCAAATTTACAGAAAGGCTACTGGGTGTCAAAACGGTACCAGTCACTCCAATAGTCTTTCACTCACCTTCATCCACACCTCTCTTTCTGGGGATATTTTCTGAATTATTTGAGAGTGAGTTGAAGACGTGTTTCTTTACCTCTAAATACTAGTTGTTGGGCATTTCTTAAAATCAAGGCATTCTCTTACATAATCACAACACACGTGTCAAAATCAGGAAATTAACATGGACAAAACAC... |
Task1_train_11253 | A genetic alteration is present in LOC106029312, NCF1 (Williams-Beuren syndrome medial block B recombination region| neutrophil cytosolic factor 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CACAGTGCTAGGATTACAAGCGTGAGCTACCGTGCCTAGTCACTTTTCTCCTTTTCTTTGTAACTTTCAGTTTTGAAATTTCAAATTTACAGAAAGGCTACTGGGTGTCAAAACGGTACCAGTCACTCCAATAGTCTTTCACTCACCTTCATCCACACCTCTCTTTCTGGGGATATTTTCTGAATTATTTGAGAGTGAGTTGAAGACGTGTTTCTTTACCTCTAAATACTAGTTGTTGGGCATTTCTTAAAATCAAGGCATTCTCTTACATAATCACAACACACGTGTCAAAATCAGGAAATTAACATGGACAAAACACC... | CACAGTGCTAGGATTACAAGCGTGAGCTACCGTGCCTAGTCACTTTTCTCCTTTTCTTTGTAACTTTCAGTTTTGAAATTTCAAATTTACAGAAAGGCTACTGGGTGTCAAAACGGTACCAGTCACTCCAATAGTCTTTCACTCACCTTCATCCACACCTCTCTTTCTGGGGATATTTTCTGAATTATTTGAGAGTGAGTTGAAGACGTGTTTCTTTACCTCTAAATACTAGTTGTTGGGCATTTCTTAAAATCAAGGCATTCTCTTACATAATCACAACACACGTGTCAAAATCAGGAAATTAACATGGACAAAACACC... |
Task1_train_11254 | A sequence alteration has been identified in LOC106029312, NCF1 (Williams-Beuren syndrome medial block B recombination region| neutrophil cytosolic factor 1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 | GAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATCCAAATTAGCCAGGCGTGGTGACAGGTGCCTGTAGTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGAAGACGGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAGCAGAGCCAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATTGGGTCTTTGGAAGGTCCCTGGAGACTGAAAGGAGCCCTTTGCAGGTGGCAGTGCAGAGA... | GAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATCCAAATTAGCCAGGCGTGGTGACAGGTGCCTGTAGTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGAAGACGGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAGCAGAGCCAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGAAGAATTGGGTCTTTGGAAGGTCCCTGGAGACTGAAAGGAGCCCTTTGCAGGTGGCAGTGCAGAGA... |
Task1_train_11255 | Here’s a variant in POR (cytochrome p450 oxidoreductase) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | TGACCTCAGGTAATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCACGCCCGGCTGCATCCTTGGATGTAAGTATCTATGGGAGGTCCTGGAACCATTCCCCCACGGATAGGGGCTATACATTTGGTTACTTTTTTTAACTTTGTTTTTTCCCCGTGTCATGAAAATGTCAGAAGTGTGATCTTGAGCAGCCGCGTGTGTGAGATTGCCTTGGTGACCTTTGCCCTCCTTTGCCACAGTGGCTGTGACAGTGAGAAGCAAGTCCCAGAGGAACTTAGAAGGGACTCAAAGCCAGGAAGGAAA... | TGACCTCAGGTAATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATCACAGGTGTGAGCCACCACGCCCGGCTGCATCCTTGGATGTAAGTATCTATGGGAGGTCCTGGAACCATTCCCCCACGGATAGGGGCTATACATTTGGTTACTTTTTTTAACTTTGTTTTTTCCCCGTGTCATGAAAATGTCAGAAGTGTGATCTTGAGCAGCCGCGTGTGTGAGATTGCCTTGGTGACCTTTGCCCTCCTTTGCCACAGTGGCTGTGACAGTGAGAAGCAAGTCCCAGAGGAACTTAGAAGGGACTCAAAGCCAGGAAGGAAA... |
Task1_train_11256 | The gene LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; POR-related disorder | TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAA... | TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAA... |
Task1_train_11257 | This sequence variant lies in LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase) on Chromosome 7. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAA... | TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAA... |
Task1_train_11258 | A mutation on Chromosome 7 affecting LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAA... | TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAA... |
Task1_train_11259 | A mutation on Chromosome 7 affecting LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAA... | TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAA... |
Task1_train_11260 | A mutation in LOC126860075, POR (CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286| cytochrome p450 oxidoreductase), located on Chromosome 7, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAA... | TCCTCTCCTCGGCCCAGCTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTCCAGGTGAGCAAGTGCCCGCAGGTGCGGTGGGTGGCCTGGGCGGGTCCTGTGCCGAGGGCAGCCACCCTGGAACAAGGGCTGGCAGTGGGTCGCAGCAAGGTTAGAAGACACTCCGTCATAGGGTCGAGGAGGGACCTTGGTCCCAGCCAAGGACTCACTCTGCCACGTTGCTCTGCACTGCCCTGGGGCAGCGGGGTGCATCCCACCTCTCGACAA... |
Task1_train_11261 | A genetic alteration is present in POR (cytochrome p450 oxidoreductase) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | GGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTG... | GGAATTGGACATCTCGGACTCCAAAATCAGGTACCAGCTGCCACTGTCACCCCCTGAACCCTCACTCTGGGCCTCCTGACCTGGGGCAGGGCCAGCCTTCCGCCCCTCCCGAGCCTCACATCTCCCTCCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTG... |
Task1_train_11262 | This variant affects the gene POR (cytochrome p450 oxidoreductase) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCC... | TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCC... |
Task1_train_11263 | Located on Chromosome 7, this mutation impacts POR (cytochrome p450 oxidoreductase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCC... | TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCC... |
Task1_train_11264 | A mutation found in POR (cytochrome p450 oxidoreductase) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Congenital adrenal hyperplasia | TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCC... | TGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCTCGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGGTGAGTGCCACAGTCAGGGCGCCCTGCCGGGCTCAGGCAGCCGCGGGATTGGGCCTGTAGGAAGGCCCTGGGTTGAGCTTCTGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCC... |
Task1_train_11265 | The gene POR (cytochrome p450 oxidoreductase) on Chromosome 7 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | TGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGG... | TGCTTAGGCCTGAAGCCCCGGTGCCTGGGAGGCCCTTGCACCGAGACTCCACGGTTACAGGATCCCAAGCAAACGGGAGGCGGGGTGGCCCTAGGGGTCTAGCCCTCTCTGTCGGGGTTCCCCCTACCCCGTCACTGTCATAGTCCTTTAAGGGAGTGAGGTGCTGAGGCCTGGTGGCAGAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGG... |
Task1_train_11266 | Given this context: Chromosome 7, gene POR (cytochrome p450 oxidoreductase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | GAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTT... | GAGGCAGCCCTGGCTCCCCCATGGCCACTGTGTCCTGCTGGGAAGGAGGGCCTGGCTCCACGACCCACCTCTGCCGGCCTGGGGCTGCCCCCACCTCCTCACTGAAGTCAGGAGTCAGCAGCCCTCCCAGGCCCCCAAGGGTGCACAGTGGTGCCGAGTGGCAGTAGCCATTACGCGGGGCTGCCTGGGCCTGGTGGGGCTGCCCAGCCTGAGCCTCCCGCTGTGAAGCCCTCGGACCCCACTGGTCACCAACCTGGGCCGAGCCCACCTCGCCCCACCCCTGCTTGCCGGTCCTCAGCTGCCATGCCAGGGCTGCCCTT... |
Task1_train_11267 | Mutation context: Chromosome 7, Gene MDH2 (malate dehydrogenase 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 51 | GAGCCACCACGCCCAGCCCAGAAGATATTTTTTTAAAGAGATGGAATCTTGCTCTGTTTCCCAGGCTGGAATGCAATGGCGCCATCATGGCTCACGGCAGCCTCAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTTCTGAGTAGCTGGGACTACAGGTGCATACCACCATGCCAGCCTGAGCACGAGAGTGAAATGATTAAGACTTTGATTTTGGGAAAGCATGCTTTGGAGGTGTTGCTGAGTACCTAAGTTAGATAACGGAATAGAATGAAGAGGAGGAGCGGGTTGGGAGGGTGGTTGAGCTGCCAAGTTCT... | GAGCCACCACGCCCAGCCCAGAAGATATTTTTTTAAAGAGATGGAATCTTGCTCTGTTTCCCAGGCTGGAATGCAATGGCGCCATCATGGCTCACGGCAGCCTCAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTTCTGAGTAGCTGGGACTACAGGTGCATACCACCATGCCAGCCTGAGCACGAGAGTGAAATGATTAAGACTTTGATTTTGGGAAAGCATGCTTTGGAGGTGTTGCTGAGTACCTAAGTTAGATAACGGAATAGAATGAAGAGGAGGAGCGGGTTGGGAGGGTGGTTGAGCTGCCAAGTTCT... |
Task1_train_11268 | A variant was discovered in gene MDH2 (malate dehydrogenase 2), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Infantile encephalopathy | TTGGGAGGCTGAGGTGGGATGGTTGCTTGAACCCAGGAGTTCAAGACTGCAATGAGCTGTGATTGCGCCACTGCGCTCCAGCCTGCGTGACAGAGCAAGACCCTGTCTCTTTAAAAAAAAAAAAAAAACAGTTTGAGTGAGCAGGTGAGCGCAGGTGTATGTCCAGAGGCCCCCGGGATTGCCGCAGTACGGAAGTGGACACAACAGGCAGGATCCCACCTCCCACCTCCAGAGGCGCAGCCCCTGGCGTCCTGGAGGCAACAGAGTTCATTCTCGTGGGCTCTCAGGGCTGGGCACACCCCAGGCCCTAGTCCTGCCCT... | TTGGGAGGCTGAGGTGGGATGGTTGCTTGAACCCAGGAGTTCAAGACTGCAATGAGCTGTGATTGCGCCACTGCGCTCCAGCCTGCGTGACAGAGCAAGACCCTGTCTCTTTAAAAAAAAAAAAAAAACAGTTTGAGTGAGCAGGTGAGCGCAGGTGTATGTCCAGAGGCCCCCGGGATTGCCGCAGTACGGAAGTGGACACAACAGGCAGGATCCCACCTCCCACCTCCAGAGGCGCAGCCCCTGGCGTCCTGGAGGCAACAGAGTTCATTCTCGTGGGCTCTCAGGGCTGGGCACACCCCAGGCCCTAGTCCTGCCCT... |
Task1_train_11269 | The variant affects gene MDH2 (malate dehydrogenase 2), which is on Chromosome 7. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy, 51 | TTGGGAGGCTGAGGTGGGATGGTTGCTTGAACCCAGGAGTTCAAGACTGCAATGAGCTGTGATTGCGCCACTGCGCTCCAGCCTGCGTGACAGAGCAAGACCCTGTCTCTTTAAAAAAAAAAAAAAAACAGTTTGAGTGAGCAGGTGAGCGCAGGTGTATGTCCAGAGGCCCCCGGGATTGCCGCAGTACGGAAGTGGACACAACAGGCAGGATCCCACCTCCCACCTCCAGAGGCGCAGCCCCTGGCGTCCTGGAGGCAACAGAGTTCATTCTCGTGGGCTCTCAGGGCTGGGCACACCCCAGGCCCTAGTCCTGCCCT... | TTGGGAGGCTGAGGTGGGATGGTTGCTTGAACCCAGGAGTTCAAGACTGCAATGAGCTGTGATTGCGCCACTGCGCTCCAGCCTGCGTGACAGAGCAAGACCCTGTCTCTTTAAAAAAAAAAAAAAAACAGTTTGAGTGAGCAGGTGAGCGCAGGTGTATGTCCAGAGGCCCCCGGGATTGCCGCAGTACGGAAGTGGACACAACAGGCAGGATCCCACCTCCCACCTCCAGAGGCGCAGCCCCTGGCGTCCTGGAGGCAACAGAGTTCATTCTCGTGGGCTCTCAGGGCTGGGCACACCCCAGGCCCTAGTCCTGCCCT... |
Task1_train_11270 | Gene HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; HSPB1-related axonal neuropathies | CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGA... | CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGA... |
Task1_train_11271 | Here’s a variant in HSPB1 (heat shock protein family B (small) member 1) located on Chromosome 7. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Charcot-Marie-Tooth disease | CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGA... | CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGA... |
Task1_train_11272 | Given this variant in gene HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2F | CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGA... | CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGA... |
Task1_train_11273 | This variant lies on Chromosome 7 and affects the gene HSPB1 (heat shock protein family B (small) member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neuronopathy, distal hereditary motor, type 2B | CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGA... | CACTTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGTAGAGGTTGGAGTGAGCCTAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCCATCTCAAAATAAATAAATAAATAAATAAATAAAACATAGAAGATGTACAGTAAAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGA... |
Task1_train_11274 | Here is a genetic alteration in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neuronopathy, distal hereditary motor, type 2B | AAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTA... | AAAACACGGTAATTGTTTTTGTTTGTTTGTTTTGAGACAGGGTCTTGTTCTGTCATGCGGACTGGAGTGCAGTGGCACCATCAGGCTCACTGCAGCCTCGACCTCCTTGGCTCAAGTGCTCCTCCCACCTCAGCCTCCTGAGTATCTGGGACTACAGGTCCACGCCACCATGCCTGGCTAATTTGTTCTGAATTTTAGTAGAGATGGGGTCTCACTGTGTTGCCCAGGCTTGTTCCAGCCTTCTGGCTTCAAGTAATCCTCCCACATCAGCCTCCCAAAGTGCTAAGATTACAGATGTCAGCCACTGCACCCAGCCAGTA... |
Task1_train_11275 | Given a variant located on Chromosome 7 and affecting HSPB1 (heat shock protein family B (small) member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neuronopathy, distal hereditary motor, type 2B | CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTC... | CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTC... |
Task1_train_11276 | This gene mutation involves HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Is it associated with any clinical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2F | CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTC... | CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTC... |
Task1_train_11277 | Mutation context: Chromosome 7, Gene HSPB1 (heat shock protein family B (small) member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Inborn genetic diseases | CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTC... | CCACCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTC... |
Task1_train_11278 | Given this context: Chromosome 7, gene HSPB1 (heat shock protein family B (small) member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2F | GATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCC... | GATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCC... |
Task1_train_11279 | This variant affects the gene HSPB1 (heat shock protein family B (small) member 1) found on Chromosome 7. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2F | GATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCC... | GATTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCC... |
Task1_train_11280 | This sequence change occurs on Chromosome 7, altering HSPB1 (heat shock protein family B (small) member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2F | TTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCA... | TTACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCA... |
Task1_train_11281 | An alteration has been detected in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Inborn genetic diseases | TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAA... | TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAA... |
Task1_train_11282 | Chromosome 7 houses a mutation in gene HSPB1 (heat shock protein family B (small) member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease | TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAA... | TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAA... |
Task1_train_11283 | A variant was discovered in gene HSPB1 (heat shock protein family B (small) member 1), Chromosome 7. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2F | TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAA... | TACAGGCGTGAGCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAA... |
Task1_train_11284 | A change on Chromosome 7 affects gene HSPB1 (heat shock protein family B (small) member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Charcot-Marie-Tooth disease | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... |
Task1_train_11285 | A mutation found in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Inborn genetic diseases | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... |
Task1_train_11286 | Here is a variant affecting HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2F | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... |
Task1_train_11287 | A genetic alteration is present in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2F | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... |
Task1_train_11288 | A sequence alteration has been identified in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Neuronopathy, distal hereditary motor, type 2B | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... |
Task1_train_11289 | Given a variant located on Chromosome 7 and affecting HSPB1 (heat shock protein family B (small) member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; HSPB1-related axonal neuropathies | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... | GCCACCACGCCCAGCCCAGACTGCTTTATTTTTGTATTTGTATTTATTCATTTACTTATTTTGAGACAGGGTTTTGCTCTGTAGCCCAGGCTGAAGTGCAGTGGTGCAATCCAGCTCACCACAGCCTCTACTCACCGGGGTTCAAAGGATCCTCCTGCTTCAGCCTCTGGAGTAGCTGGGGCCACAGGCATGCACCACCATGCCCAGCTAATTTTTAAATATTTTTTGGTAGAAGTAGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGAT... |
Task1_train_11290 | A genomic change on Chromosome 7 affects HSPB1 (heat shock protein family B (small) member 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Charcot-Marie-Tooth disease axonal type 2F | GTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTT... | GTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTT... |
Task1_train_11291 | This sequence change occurs on Chromosome 7, altering HSPB1 (heat shock protein family B (small) member 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2F | ACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAG... | ACTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAG... |
Task1_train_11292 | A mutation found in HSPB1 (heat shock protein family B (small) member 1) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Charcot-Marie-Tooth disease axonal type 2F | CTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGA... | CTATGTTGCCCAGACTGGTCTCAAACTCCTAGCCTCAAGGGACCCTTCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCATGCACCCAGCCCCTTTTTAAAATTTTTTTGAGAGACAAGACTTTGATCTGTTGCCTAGGCTGGAGTGCAGTGGTGAGATCATAGCTCACTGCAGCCTCAACTCCTGGGCTCAAGCACCAGACTCCTTTTATCACATTCTATCTCACACGCGTGTGGTTCCAATCCTGCCTCTGCCACTTCTCAGTTGTATGCCCCAACCCAACCTGTCTGGCTCTGTCCTCCTTAACAGA... |
Task1_train_11293 | The gene YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | CTGTGGTCATCGTGGTTCTTCTATCTTCACTGTCACCTGTATCCTGTTACACATACTCAGTTCCTAATTGTAAGCTCAATTTTGGTATTAGCAAAAGCATCTGTCAGTTTTTCCTCAATTACTCACACCTCTTCTTGCCTAAATAAAACAAAGAAACAAAGAAAACAAGTGTGGTGTCATTACACGTCTCGGGAGTTCCTCGTCACTGACTTTATATATATAAAAAAAAGAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAA... | CTGTGGTCATCGTGGTTCTTCTATCTTCACTGTCACCTGTATCCTGTTACACATACTCAGTTCCTAATTGTAAGCTCAATTTTGGTATTAGCAAAAGCATCTGTCAGTTTTTCCTCAATTACTCACACCTCTTCTTGCCTAAATAAAACAAAGAAACAAAGAAAACAAGTGTGGTGTCATTACACGTCTCGGGAGTTCCTCGTCACTGACTTTATATATATAAAAAAAAGAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAA... |
Task1_train_11294 | A sequence alteration has been identified in YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7. Is it disease-inducing or harmless? | Pathogenic; Intellectual disability | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... |
Task1_train_11295 | Here is a variant affecting YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Microcephaly | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... |
Task1_train_11296 | With a mutation on Chromosome 7 in gene YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hypotonia | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... |
Task1_train_11297 | A genetic alteration is present in YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Severe global developmental delay | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... |
Task1_train_11298 | A mutation found in YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Seizure | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... |
Task1_train_11299 | Here is a genetic alteration in YWHAG (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma) on Chromosome 7. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Failure to thrive | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... | GAATGCACATGCGGGCCACGTTCACAGATAGACAGATTCACCCGAAATGAGAATGAGGGCCTTAAGGCTGCCGAAAACAAATGGGTGGAAATAGCAACGTTGTTTCCGTCAATTCCAAATGTGCACTGGCTGCGTGAGACAAGCCAATCTCCAATTCCTATGCTTTTTTCATTAAAAAGAAAAAACTATCTCGAGAGGAAAAAGTTCTGGTCAAATAGGAGTTCAGTGTTTGTTATCTGGTAACAGTTTTTTTATCTTCCTACAATTACTTGGGGAAGGAGTGTCTTCGGGGAGGAAAAACTGACACACTGACAAGGCTC... |
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