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_6300 | This variant affects gene THRB (thyroid hormone receptor beta) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | ACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACATGGGAGTTCATTATGCTATTCT... | ACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACATGGGAGTTCATTATGCTATTCT... |
Task1_train_6301 | A variant found in Chromosome 3 affects THRB (thyroid hormone receptor beta). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | ACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACATGGGAGTTCATTATGCTATTCT... | ACCACCCTCAGCCCTAGAGGTCATCTATAGCTCCTGTCATGGGAACTTTCCCCACATGGCGGTTTACTTCATGAAGCTGGCACGGAGAGTCCCTAGAGCAAGTCTGCCAGCAAGAGGGAATCTTAGATTATGTAATGTAATCACAAGGGGTGACATCAAATTTGCCATATTCTCTTGGCTAGAAGCAAGGTACAGGTCCTGCACACACTGAAGGACAGGAGATTATCCAAGGTGTGAACATTAGGAGGTGGTGGGGAGTGTAGGAGGCCGGTCTGGAGTCTGGGTGCCACAGTGTACATGGGAGTTCATTATGCTATTCT... |
Task1_train_6302 | Here is a mutation in THRB (thyroid hormone receptor beta) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AATACGTATAATTTTTGTAATATCCTCTAAAATGTTAATAGATGTCTACTTCTAAAAAAGGCGTCAAAGGCATGGGAAGCTCCATGGCCAACACAGAGATATAAGTCAAAGTCCCTTCCTCAGTATCTACTGACTTCTTTAGGGGTGGGGTATGAGTCATTGCTACTGCAAGGCTGTGGGTACTAGCATATCAGGTACCCTGGTGCTATAGACTGAATGTCTGTATCCCTTCAAAATCCATATGTTGCAACCTAATCCCCAGTGTGATGGTATTGAAGGCGGGGCCTTTGGGAGGTGATGAGGTCATGAGAGTGGGGCCC... | AATACGTATAATTTTTGTAATATCCTCTAAAATGTTAATAGATGTCTACTTCTAAAAAAGGCGTCAAAGGCATGGGAAGCTCCATGGCCAACACAGAGATATAAGTCAAAGTCCCTTCCTCAGTATCTACTGACTTCTTTAGGGGTGGGGTATGAGTCATTGCTACTGCAAGGCTGTGGGTACTAGCATATCAGGTACCCTGGTGCTATAGACTGAATGTCTGTATCCCTTCAAAATCCATATGTTGCAACCTAATCCCCAGTGTGATGGTATTGAAGGCGGGGCCTTTGGGAGGTGATGAGGTCATGAGAGTGGGGCCC... |
Task1_train_6303 | Here is a mutation in LOC126806630, THRB (CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:24184437-24185636| thyroid hormone receptor beta) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Selective pituitary resistance to thyroid hormone | CTTCATCCCATCACACTGTTTATTGCCTTCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAAT... | CTTCATCCCATCACACTGTTTATTGCCTTCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAAT... |
Task1_train_6304 | A genomic change on Chromosome 3 affects LOC126806630, THRB (CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:24184437-24185636| thyroid hormone receptor beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Thyroid hormone resistance, generalized, autosomal recessive | CTTCATCCCATCACACTGTTTATTGCCTTCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAAT... | CTTCATCCCATCACACTGTTTATTGCCTTCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAAT... |
Task1_train_6305 | The gene LOC126806630, THRB (CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:24184437-24185636| thyroid hormone receptor beta) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | CTTCATCCCATCACACTGTTTATTGCCTTCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAAT... | CTTCATCCCATCACACTGTTTATTGCCTTCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAAT... |
Task1_train_6306 | This mutation is located in gene LOC126806630, THRB (CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:24184437-24185636| thyroid hormone receptor beta) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | CTTCATCCCATCACACTGTTTATTGCCTTCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAAT... | CTTCATCCCATCACACTGTTTATTGCCTTCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAAT... |
Task1_train_6307 | Mutation context: Chromosome 3, Gene THRB, LOC126806630 (thyroid hormone receptor beta| CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:24184437-24185636). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Thyroid hormone resistance, generalized, autosomal dominant | TTCATCCCATCACACTGTTTATTGCCTTCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAATT... | TTCATCCCATCACACTGTTTATTGCCTTCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAATT... |
Task1_train_6308 | Gene LOC126806630, THRB (CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:24184437-24185636| thyroid hormone receptor beta) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Thyroid hormone resistance syndrome | TCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAATTCAGCTTGGTCACGACTTGAAATCAGGA... | TCATTGCACTTACCACTACCTGCATTTATTTTGTTTGTTTATCTCTTATTATCTGCCTCCCACTAGAGGAATGTGCCTGACTTATTTACTTTCTGGCACATAGTATCCACTCAATAAATGTTTCTTAAATAAAGGAACAAATCTTTAAAGTCTGGAAAGAAGCACCTTATGACTACTTAAACAAGTTTAGTTGGACTAGTATCCCTTCTCTATGGGGAGTAAAGACAATAAAAGTATAAAATTCCCGGGAGAAGTCCAGGATGAACTTCAAATCTTCTACCTTACTTGGAATTCAGCTTGGTCACGACTTGAAATCAGGA... |
Task1_train_6309 | A genomic change on Chromosome 3 affects RARB (retinoic acid receptor beta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Microphthalmia | TCTCTTCCGTGTCATCTTCCTACGAACCGGATAAACTGCCTATTAAATTTAATTACGGCCCAAATGGCCACACATCTTGATCTCATGTTCCCTCAAGTGTACTGTATACCACCAAGGTCCTTGAGGAAGGAATAAAATAAATCTGGAGGATGCATGTCTACTCTCCACAAGGAACGTCGTGGAAGGCAAAGTTGACCACCTTCGTTTTTACAGTGTCTGTGGCACCTCGTGCAAACTCTTCTTTCTGGCTTTCCATGCAGACGTTCAAAGCAAGAGCTAGTTTTATTCACTTCCTGTAGACTGATTTTAACTGAGGTGGG... | TCTCTTCCGTGTCATCTTCCTACGAACCGGATAAACTGCCTATTAAATTTAATTACGGCCCAAATGGCCACACATCTTGATCTCATGTTCCCTCAAGTGTACTGTATACCACCAAGGTCCTTGAGGAAGGAATAAAATAAATCTGGAGGATGCATGTCTACTCTCCACAAGGAACGTCGTGGAAGGCAAAGTTGACCACCTTCGTTTTTACAGTGTCTGTGGCACCTCGTGCAAACTCTTCTTTCTGGCTTTCCATGCAGACGTTCAAAGCAAGAGCTAGTTTTATTCACTTCCTGTAGACTGATTTTAACTGAGGTGGG... |
Task1_train_6310 | Given this context: Chromosome 3, gene RARB (retinoic acid receptor beta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Microphthalmia, syndromic 12 | AACTGCATAAGTCTGCAAATTTGTGTATGTAATTGAATTACCAAATTAATGAACTCATAACAGTAGGAATAAGGAAACAAGGAAGAGGGGAAAAGGGCATAAATCCTGATTTTGTTTAATACTTTATTCCTGGTATCCAGACCGCCAGGACCTTGAGGAACCGACAAAAGTAGATAAGCTACAAGAACCATTGCTGGAAGCACTAAAAATTTATATCAGAAAAAGACGACCCAGCAAGCCTCACATGTTTCCAAAGATCTTAATGAAAATCACAGATCTCCGTAGCATCAGTGCTAAAGGTATGTCTTCGTGCTCTCAGT... | AACTGCATAAGTCTGCAAATTTGTGTATGTAATTGAATTACCAAATTAATGAACTCATAACAGTAGGAATAAGGAAACAAGGAAGAGGGGAAAAGGGCATAAATCCTGATTTTGTTTAATACTTTATTCCTGGTATCCAGACCGCCAGGACCTTGAGGAACCGACAAAAGTAGATAAGCTACAAGAACCATTGCTGGAAGCACTAAAAATTTATATCAGAAAAAGACGACCCAGCAAGCCTCACATGTTTCCAAAGATCTTAATGAAAATCACAGATCTCCGTAGCATCAGTGCTAAAGGTATGTCTTCGTGCTCTCAGT... |
Task1_train_6311 | Gene TOP2B (DNA topoisomerase II beta), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | TAGTGAAGAATAAAGGCTTTAGAATCTCACTAATCTGTATATTCTTCTCAACTTGGCCATTTACCATGTGACTAAGCAAATAACTAGTAAGTCTATGTCCTCATCCAAGTAATAGAAATAATTACTTTCTTAATATAGTTTTCATAAGGATTGCATGAAACAATGTGAGCAAATCACTCTGCTCCCTTACCATTCTTCTTGCTCTAGGCCAAGCTTGTCCAACCCGTGGCCCGTGGGCTGCATGTGGCCCAACACAAATTTGTCAGTTTTCTTAAAACATCATGAGGTTTTTTGTTTGTTTGTTTTTGCGATTATTTTTG... | TAGTGAAGAATAAAGGCTTTAGAATCTCACTAATCTGTATATTCTTCTCAACTTGGCCATTTACCATGTGACTAAGCAAATAACTAGTAAGTCTATGTCCTCATCCAAGTAATAGAAATAATTACTTTCTTAATATAGTTTTCATAAGGATTGCATGAAACAATGTGAGCAAATCACTCTGCTCCCTTACCATTCTTCTTGCTCTAGGCCAAGCTTGTCCAACCCGTGGCCCGTGGGCTGCATGTGGCCCAACACAAATTTGTCAGTTTTCTTAAAACATCATGAGGTTTTTTGTTTGTTTGTTTTTGCGATTATTTTTG... |
Task1_train_6312 | Given a variant located on Chromosome 3 and affecting TOP2B (DNA topoisomerase II beta), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | CAGCTACTTGCGGGGGCTGAGGCAAGAGGATCATTTGAGCCCGGAAAGTCAAGGCGGCAGTGAGCTGTGTTCATGCTACTGCACTCCAGCCTGGGTGACAAAGCAAGACCCTGTCTCAACAATAGGATATTAAAGAAGGTTATGATAATGGTATTATGGGTTACTTAAAAAAATTCTTTCAGAAATACATACTGAAGTAGTTATAGGTGAAATACTAGACTATAATGTCTGGAAGTTTTTTCAAACTAATGGAGTGGCAATAAAGGAGGTTTACAGGAAACAAGACTAGCCATTGAAATGGTGATCCCATTCAATGAAAT... | CAGCTACTTGCGGGGGCTGAGGCAAGAGGATCATTTGAGCCCGGAAAGTCAAGGCGGCAGTGAGCTGTGTTCATGCTACTGCACTCCAGCCTGGGTGACAAAGCAAGACCCTGTCTCAACAATAGGATATTAAAGAAGGTTATGATAATGGTATTATGGGTTACTTAAAAAAATTCTTTCAGAAATACATACTGAAGTAGTTATAGGTGAAATACTAGACTATAATGTCTGGAAGTTTTTTCAAACTAATGGAGTGGCAATAAAGGAGGTTTACAGGAAACAAGACTAGCCATTGAAATGGTGATCCCATTCAATGAAAT... |
Task1_train_6313 | Here’s a variant in TOP2B (DNA topoisomerase II beta) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; B-cell immunodeficiency, distal limb anomalies, and urogenital malformations | ACTTGCGGGGGCTGAGGCAAGAGGATCATTTGAGCCCGGAAAGTCAAGGCGGCAGTGAGCTGTGTTCATGCTACTGCACTCCAGCCTGGGTGACAAAGCAAGACCCTGTCTCAACAATAGGATATTAAAGAAGGTTATGATAATGGTATTATGGGTTACTTAAAAAAATTCTTTCAGAAATACATACTGAAGTAGTTATAGGTGAAATACTAGACTATAATGTCTGGAAGTTTTTTCAAACTAATGGAGTGGCAATAAAGGAGGTTTACAGGAAACAAGACTAGCCATTGAAATGGTGATCCCATTCAATGAAATCTATT... | ACTTGCGGGGGCTGAGGCAAGAGGATCATTTGAGCCCGGAAAGTCAAGGCGGCAGTGAGCTGTGTTCATGCTACTGCACTCCAGCCTGGGTGACAAAGCAAGACCCTGTCTCAACAATAGGATATTAAAGAAGGTTATGATAATGGTATTATGGGTTACTTAAAAAAATTCTTTCAGAAATACATACTGAAGTAGTTATAGGTGAAATACTAGACTATAATGTCTGGAAGTTTTTTCAAACTAATGGAGTGGCAATAAAGGAGGTTTACAGGAAACAAGACTAGCCATTGAAATGGTGATCCCATTCAATGAAATCTATT... |
Task1_train_6314 | A genomic change on Chromosome 3 affects NGLY1 (N-glycanase 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | AGGCAGTGGGGAAAGAAACTCACGCTTGTTTCTACGGTTCCAGTGATCTATTTCTTATTCTGGTTGGCGATTACATGGGTGTTAAATTTGTAAACATTCATTAAGCTGTACATTTATAATTTGTGCATTTTCCTGTATATTCTTCAGTAAAAGTTACACTGCACTAAAAATTTACATAAGGTAAAAAAAATTTTAAGTCCCATTTTAAAAATGCTTTGCTAACTCTTACACGATAATGCTATGTAAATCAATTACTGGTTCTCTTCAAATGTTTGCATTTTAAAATAATTACTCTCAAGTTAACTGAAAGGTCATAGTCA... | AGGCAGTGGGGAAAGAAACTCACGCTTGTTTCTACGGTTCCAGTGATCTATTTCTTATTCTGGTTGGCGATTACATGGGTGTTAAATTTGTAAACATTCATTAAGCTGTACATTTATAATTTGTGCATTTTCCTGTATATTCTTCAGTAAAAGTTACACTGCACTAAAAATTTACATAAGGTAAAAAAAATTTTAAGTCCCATTTTAAAAATGCTTTGCTAACTCTTACACGATAATGCTATGTAAATCAATTACTGGTTCTCTTCAAATGTTTGCATTTTAAAATAATTACTCTCAAGTTAACTGAAAGGTCATAGTCA... |
Task1_train_6315 | This genomic variant is located on Chromosome 3, within the NGLY1 (N-glycanase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Congenital disorder of deglycosylation | CTTACTAAATACCTAGAATGTATGTAATTTTTAAATGCATTTTTTTGGAGACGAAGTCTCGCTCTGTTGTCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAGTCTCACTTCCCAGGGTCAAGAGATTCTCGTATCTCAGCCTCCTGAGTAGCTGGGACTATAGGCATGCACCATCACGCCTGGCTGATTTTTGTATTGTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTATAAGCATGAGCCAC... | CTTACTAAATACCTAGAATGTATGTAATTTTTAAATGCATTTTTTTGGAGACGAAGTCTCGCTCTGTTGTCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAGTCTCACTTCCCAGGGTCAAGAGATTCTCGTATCTCAGCCTCCTGAGTAGCTGGGACTATAGGCATGCACCATCACGCCTGGCTGATTTTTGTATTGTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTATAAGCATGAGCCAC... |
Task1_train_6316 | This variant impacts the gene NGLY1 (N-glycanase 1) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Congenital disorder of deglycosylation 1 | TTTTGGAGACGAAGTCTCGCTCTGTTGTCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAGTCTCACTTCCCAGGGTCAAGAGATTCTCGTATCTCAGCCTCCTGAGTAGCTGGGACTATAGGCATGCACCATCACGCCTGGCTGATTTTTGTATTGTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTATAAGCATGAGCCACCACGCCCAGCCTTAAATGCAATTTTTAGAATACTATCCTTTG... | TTTTGGAGACGAAGTCTCGCTCTGTTGTCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAGTCTCACTTCCCAGGGTCAAGAGATTCTCGTATCTCAGCCTCCTGAGTAGCTGGGACTATAGGCATGCACCATCACGCCTGGCTGATTTTTGTATTGTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTATAAGCATGAGCCACCACGCCCAGCCTTAAATGCAATTTTTAGAATACTATCCTTTG... |
Task1_train_6317 | Consider this mutation in NGLY1 (N-glycanase 1) on Chromosome 3. Is this a benign change or a disease-causing variant? | Pathogenic; Congenital disorder of deglycosylation | TTTTGGAGACGAAGTCTCGCTCTGTTGTCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAGTCTCACTTCCCAGGGTCAAGAGATTCTCGTATCTCAGCCTCCTGAGTAGCTGGGACTATAGGCATGCACCATCACGCCTGGCTGATTTTTGTATTGTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTATAAGCATGAGCCACCACGCCCAGCCTTAAATGCAATTTTTAGAATACTATCCTTTG... | TTTTGGAGACGAAGTCTCGCTCTGTTGTCCAGGCTAGAGTGCAGTGGCGTGATCTCAGCTCACTGCAGTCTCACTTCCCAGGGTCAAGAGATTCTCGTATCTCAGCCTCCTGAGTAGCTGGGACTATAGGCATGCACCATCACGCCTGGCTGATTTTTGTATTGTTTTAAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTATAAGCATGAGCCACCACGCCCAGCCTTAAATGCAATTTTTAGAATACTATCCTTTG... |
Task1_train_6318 | Consider a variant on Chromosome 3 in gene NGLY1 (N-glycanase 1). Determine its clinical classification and disease relevance. | Pathogenic; Congenital disorder of deglycosylation | GAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCAGAGTATCTGTGACTACAGGTGCATGCCACCAGGTCTGGCTAATTTTGTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCGGCCTTTAATTTGTTTTTAAATATTTATTTAGAAATCTAGA... | GAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCAGAGTATCTGTGACTACAGGTGCATGCCACCAGGTCTGGCTAATTTTGTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCGGCCTTTAATTTGTTTTTAAATATTTATTTAGAAATCTAGA... |
Task1_train_6319 | The variant affects gene NGLY1 (N-glycanase 1), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Congenital disorder of deglycosylation | CTACAGGTGCATGCCACCAGGTCTGGCTAATTTTGTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCGGCCTTTAATTTGTTTTTAAATATTTATTTAGAAATCTAGAATATATGAGGCACAATGTTAGAACATTTGGTGAAAAATAATTAAACGGTAGTACTGCTTTCAAGGTGTTCACAATCCTGAGGAAAGGGATGAACACAAATAATTTAAATATATGGCAGA... | CTACAGGTGCATGCCACCAGGTCTGGCTAATTTTGTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCGGCCTTTAATTTGTTTTTAAATATTTATTTAGAAATCTAGAATATATGAGGCACAATGTTAGAACATTTGGTGAAAAATAATTAAACGGTAGTACTGCTTTCAAGGTGTTCACAATCCTGAGGAAAGGGATGAACACAAATAATTTAAATATATGGCAGA... |
Task1_train_6320 | This variant lies on Chromosome 3 and affects the gene NGLY1 (N-glycanase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Neurodevelopmental delay | GTCTGGCTAATTTTGTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCGGCCTTTAATTTGTTTTTAAATATTTATTTAGAAATCTAGAATATATGAGGCACAATGTTAGAACATTTGGTGAAAAATAATTAAACGGTAGTACTGCTTTCAAGGTGTTCACAATCCTGAGGAAAGGGATGAACACAAATAATTTAAATATATGGCAGAATGTGATCAAACAATACAAC... | GTCTGGCTAATTTTGTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGCGCCCGGCCTTTAATTTGTTTTTAAATATTTATTTAGAAATCTAGAATATATGAGGCACAATGTTAGAACATTTGGTGAAAAATAATTAAACGGTAGTACTGCTTTCAAGGTGTTCACAATCCTGAGGAAAGGGATGAACACAAATAATTTAAATATATGGCAGAATGTGATCAAACAATACAAC... |
Task1_train_6321 | Gene NEK10 (NIMA related kinase 10), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Ciliary dyskinesia, primary, 44 | CTACCCCTTAATTTACGGATGAGTATACAACCTCTGGAACATTAAAATCCCTCCCTTGGTTTCAGAGCTTTCCCTTTATTTTACCTGGCGATAGCCTGAAATCTATATTTCTAAAGCTAAAATGACTCTCCAAACACATATGGAAATACTGATAGAGGAAATTATATGGTATCTGGGATTTACTTCAAAATAATCTGGGGAAGGAAGGAAGTAGGTGGGAATAGAGATGATACAGGATTAGCCCTTAATAGCTAACTGTTGAAGCTGGGATGGGTACAGGAAGTAATCTTTGCATTTATAAACGTTTGAAGTTTTCCATA... | CTACCCCTTAATTTACGGATGAGTATACAACCTCTGGAACATTAAAATCCCTCCCTTGGTTTCAGAGCTTTCCCTTTATTTTACCTGGCGATAGCCTGAAATCTATATTTCTAAAGCTAAAATGACTCTCCAAACACATATGGAAATACTGATAGAGGAAATTATATGGTATCTGGGATTTACTTCAAAATAATCTGGGGAAGGAAGGAAGTAGGTGGGAATAGAGATGATACAGGATTAGCCCTTAATAGCTAACTGTTGAAGCTGGGATGGGTACAGGAAGTAATCTTTGCATTTATAAACGTTTGAAGTTTTCCATA... |
Task1_train_6322 | Gene NEK10 (NIMA related kinase 10) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Ciliary dyskinesia, primary, 44 | AGTGTAAATTAGTTCTACCATTGTGGAAAACAATGTGTAGTGATTCCCCAAAGACATAAAAACAGAACTACCATTCAACCCAGCAATCCCATTACTGGCTCTATACCTAAAGGAATACGAATCATTCTATCATAAAAACACATGCACACATATGTTCATTGCAGCACTATTCACAATAGCAAAGACATGGAATCAACATAAATGCCCATAAATTCTAGGCTGGATAAAGAAAATATGGTATATACACACCATGGAATACTATGTAGCCATAAAAAGCAACAACATCATGTCTTTTGTAGGAACATGGCTGGAGCTGGAGG... | AGTGTAAATTAGTTCTACCATTGTGGAAAACAATGTGTAGTGATTCCCCAAAGACATAAAAACAGAACTACCATTCAACCCAGCAATCCCATTACTGGCTCTATACCTAAAGGAATACGAATCATTCTATCATAAAAACACATGCACACATATGTTCATTGCAGCACTATTCACAATAGCAAAGACATGGAATCAACATAAATGCCCATAAATTCTAGGCTGGATAAAGAAAATATGGTATATACACACCATGGAATACTATGTAGCCATAAAAAGCAACAACATCATGTCTTTTGTAGGAACATGGCTGGAGCTGGAGG... |
Task1_train_6323 | Chromosome 3 houses a mutation in gene NEK10 (NIMA related kinase 10). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Ciliary dyskinesia, primary, 44 | CTCACACTTCCCTCAGCACACTCTAAGCTCACAGCTTTCACACTTGGTGCATGCTGTTCCCTCTGCATGGAATGCCCTTCCACCCTGCAGCAGATGCCATTGGTGCCCCACCCAATATCCCCTTATCCACTTGGCAAGTCCCTTCTCATCCATCAAGATCCATGATGGCAAATAATTTTCCCCCTGTTGTTATATTCTGATACATAAGGAATGCATATTTTTTTAAAAAAATAGAACTTATTGATAAGCAAAGAAACACCTAAATAAATCACCTAATTCTCCCACACAGAGAAACCACTGTTAAGCCTTCTGTATTGTTT... | CTCACACTTCCCTCAGCACACTCTAAGCTCACAGCTTTCACACTTGGTGCATGCTGTTCCCTCTGCATGGAATGCCCTTCCACCCTGCAGCAGATGCCATTGGTGCCCCACCCAATATCCCCTTATCCACTTGGCAAGTCCCTTCTCATCCATCAAGATCCATGATGGCAAATAATTTTCCCCCTGTTGTTATATTCTGATACATAAGGAATGCATATTTTTTTAAAAAAATAGAACTTATTGATAAGCAAAGAAACACCTAAATAAATCACCTAATTCTCCCACACAGAGAAACCACTGTTAAGCCTTCTGTATTGTTT... |
Task1_train_6324 | Gene TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cardiovascular phenotype | ATATTCTCATCACTTTTTTTTTTCTCTTTAAACACCTACTGTAGGTGAAAACTGACAAATGAATAATCAAAAGATCCTTTTCTGACACGGAGTTTGGTTCCATACCACCTACCCATTTTTTTCCTTTCTATTCCGCAGGTGCAGAGTGGTCAGTATGGGATAATTGCTCTTCCTTAAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATA... | ATATTCTCATCACTTTTTTTTTTCTCTTTAAACACCTACTGTAGGTGAAAACTGACAAATGAATAATCAAAAGATCCTTTTCTGACACGGAGTTTGGTTCCATACCACCTACCCATTTTTTTCCTTTCTATTCCGCAGGTGCAGAGTGGTCAGTATGGGATAATTGCTCTTCCTTAAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATA... |
Task1_train_6325 | This genomic variant is located on Chromosome 3, within the TGFBR2 (transforming growth factor beta receptor 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Loeys-Dietz syndrome 2 | ATATTCTCATCACTTTTTTTTTTCTCTTTAAACACCTACTGTAGGTGAAAACTGACAAATGAATAATCAAAAGATCCTTTTCTGACACGGAGTTTGGTTCCATACCACCTACCCATTTTTTTCCTTTCTATTCCGCAGGTGCAGAGTGGTCAGTATGGGATAATTGCTCTTCCTTAAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATA... | ATATTCTCATCACTTTTTTTTTTCTCTTTAAACACCTACTGTAGGTGAAAACTGACAAATGAATAATCAAAAGATCCTTTTCTGACACGGAGTTTGGTTCCATACCACCTACCCATTTTTTTCCTTTCTATTCCGCAGGTGCAGAGTGGTCAGTATGGGATAATTGCTCTTCCTTAAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATA... |
Task1_train_6326 | A change on Chromosome 3 affects gene TGFBR2 (transforming growth factor beta receptor 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Loeys-Dietz syndrome 2 | TTTGGTTCCATACCACCTACCCATTTTTTTCCTTTCTATTCCGCAGGTGCAGAGTGGTCAGTATGGGATAATTGCTCTTCCTTAAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTG... | TTTGGTTCCATACCACCTACCCATTTTTTTCCTTTCTATTCCGCAGGTGCAGAGTGGTCAGTATGGGATAATTGCTCTTCCTTAAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTG... |
Task1_train_6327 | Given this variant in gene TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTCCGCAGGTGCAGAGTGGTCAGTATGGGATAATTGCTCTTCCTTAAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGA... | TTCCGCAGGTGCAGAGTGGTCAGTATGGGATAATTGCTCTTCCTTAAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGA... |
Task1_train_6328 | This is a variant in TGFBR2 (transforming growth factor beta receptor 2), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Loeys-Dietz syndrome 2 | AAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCA... | AAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCA... |
Task1_train_6329 | Here is a genetic alteration in TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCA... | AAGTAGATCATATATTCTTTCTCCTTAACATAGCACTCTTTCCACTCATCACTGACTTTTCCCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCA... |
Task1_train_6330 | The gene TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Loeys-Dietz syndrome 2 | CCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTG... | CCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTG... |
Task1_train_6331 | Here is a genetic alteration in TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTG... | CCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTG... |
Task1_train_6332 | The gene TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Loeys-Dietz syndrome | CCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTG... | CCATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTG... |
Task1_train_6333 | A mutation found in TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Loeys-Dietz syndrome 2 | ATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTGCC... | ATTCTTCAGAGACCAACTTAAAGGCAGTTTTTTGCTACTGTGCCTTCCATGTTTCTCTAAGCTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTGCC... |
Task1_train_6334 | The gene TGFBR2 (transforming growth factor beta receptor 2) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTGCCCAATGAAAGCAGCCCAGCACAAGCTCCCAGTGAACTAGAGCTGCCTTTTGCTCTCTCCTGT... | CTTTTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTGCCCAATGAAAGCAGCCCAGCACAAGCTCCCAGTGAACTAGAGCTGCCTTTTGCTCTCTCCTGT... |
Task1_train_6335 | The variant affects gene TGFBR2 (transforming growth factor beta receptor 2), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTGCCCAATGAAAGCAGCCCAGCACAAGCTCCCAGTGAACTAGAGCTGCCTTTTGCTCTCTCCTGTCCA... | TTCCACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTGCCCAATGAAAGCAGCCCAGCACAAGCTCCCAGTGAACTAGAGCTGCCTTTTGCTCTCTCCTGTCCA... |
Task1_train_6336 | A variant has been detected on Chromosome 3 in TGFBR2 (transforming growth factor beta receptor 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Cardiovascular phenotype | CACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTGCCCAATGAAAGCAGCCCAGCACAAGCTCCCAGTGAACTAGAGCTGCCTTTTGCTCTCTCCTGTCCACTG... | CACATTCCACTAATATATAGATTACATTGTACATTTAGCCCCTATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTGCCCAATGAAAGCAGCCCAGCACAAGCTCCCAGTGAACTAGAGCTGCCTTTTGCTCTCTCCTGTCCACTG... |
Task1_train_6337 | Chromosome 3 houses a mutation in gene TGFBR2 (transforming growth factor beta receptor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTGCCCAATGAAAGCAGCCCAGCACAAGCTCCCAGTGAACTAGAGCTGCCTTTTGCTCTCTCCTGTCCACTGTCTGTTTCTATTCATGTCCTTCTTCCAAAAAGGAAAACTATT... | TATCCCAGATGCCATATATTGCTTACTTGTATATATGCCCTAAGTCCTCTACTGGGTACTCTCTGAGGGCAGTGCCATGCCCATCATAGACACTCAGTAGTGATATATTTAATGAATGATTCTAGGATCTGAGCATGAGGCCTGCTCATTAATGGGTACTTTGGAGGGCAGATGGATGACACATAAAGCAATAGAATTCTGCATGTTTGCCCAATGAAAGCAGCCCAGCACAAGCTCCCAGTGAACTAGAGCTGCCTTTTGCTCTCTCCTGTCCACTGTCTGTTTCTATTCATGTCCTTCTTCCAAAAAGGAAAACTATT... |
Task1_train_6338 | A variant was discovered in gene TGFBR2 (transforming growth factor beta receptor 2), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cardiovascular phenotype | TTCTCAGACATCAATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCT... | TTCTCAGACATCAATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCT... |
Task1_train_6339 | Given this variant in gene TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCAATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGT... | TCAATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGT... |
Task1_train_6340 | With a mutation on Chromosome 3 in gene TGFBR2 (transforming growth factor beta receptor 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | AATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCT... | AATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCT... |
Task1_train_6341 | Here is a variant affecting TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGA... | CTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGA... |
Task1_train_6342 | A mutation found in TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGAC... | TGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGAC... |
Task1_train_6343 | Given this variant in gene TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Loeys-Dietz syndrome 2 | AGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCT... | AGCATGAGAACATACTCCAGTTCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCT... |
Task1_train_6344 | Chromosome 3 houses a mutation in gene TGFBR2 (transforming growth factor beta receptor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Loeys-Dietz syndrome 2 | TCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTG... | TCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTG... |
Task1_train_6345 | A sequence alteration has been identified in TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Loeys-Dietz syndrome | TCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTG... | TCCTGACGGCTGAGGAGCGGAAGACGGAGTTGGGGAAACAATACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTG... |
Task1_train_6346 | The gene TGFBR2 (transforming growth factor beta receptor 2) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCC... | TACTGGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCC... |
Task1_train_6347 | A variant affecting Chromosome 3, within the gene TGFBR2 (transforming growth factor beta receptor 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTT... | GGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTT... |
Task1_train_6348 | This is a variant in TGFBR2 (transforming growth factor beta receptor 2), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Loeys-Dietz syndrome 2 | GGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTT... | GGCTGATCACCGCCTTCCACGCCAAGGGCAACCTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTT... |
Task1_train_6349 | This sequence variant lies in TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Loeys-Dietz syndrome 2 | CTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGAT... | CTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGAT... |
Task1_train_6350 | A variant found in Chromosome 3 affects TGFBR2 (transforming growth factor beta receptor 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGAT... | CTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGAT... |
Task1_train_6351 | The gene TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Cardiovascular phenotype | CTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGAT... | CTACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGAT... |
Task1_train_6352 | The gene TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGATC... | TACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGATC... |
Task1_train_6353 | A variant was discovered in gene TGFBR2 (transforming growth factor beta receptor 2), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Loeys-Dietz syndrome 2 | TACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGATC... | TACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGATC... |
Task1_train_6354 | This genomic variant is located on Chromosome 3, within the TGFBR2 (transforming growth factor beta receptor 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGATC... | TACAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGATC... |
Task1_train_6355 | Given this context: Chromosome 3, gene TGFBR2 (transforming growth factor beta receptor 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Loeys-Dietz syndrome 2 | CAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGATCCA... | CAGGAGTACCTGACGCGGCATGTCATCAGCTGGGAGGACCTGCGCAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCCACAGTGATCACACTCCATGTGGGAGGCCCAAGATGCCCATCGTGCACAGGGACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACCTGCTGCCTGTGTGACTTTGGGCTTTCCCTGCGTCTGGACCCTACTCTGTCTGTGGATGACCTGGCTAACAGTGGGCAGGTAAGTTAGAGCTAGTGCTAGATCCCCTTTACCTTGAGCCTGGCCTCACCCTACCTCTTGATCCA... |
Task1_train_6356 | A mutation found in TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GCAATGTGGATTAAATGCTTGGGTCCTTTGAGGCAAAAAGCATGACACACAGGAGGATAGTTTGTGGTTTGTCTTAATGTGATGGGAGGCCTTCATCCCAAATTCCCCTGTATTTAAAACTATAAAAAAGAAAATATCCTGGCAGCTCTACTATTTGGTGAAGCTGAAAAAGATAAATATTCAAGTAGAGTTCTGGAAAAGGGGAAAAAAGCAAATGAACAAAGAACAAAAACAAGCCGTCCCTTTTCAAAATGTCATCTTGCCATGAAAGCTTCTTCAATTCGTTACCTAGAAGTGCAAATGTATTGAAAGTTTTACTC... | GCAATGTGGATTAAATGCTTGGGTCCTTTGAGGCAAAAAGCATGACACACAGGAGGATAGTTTGTGGTTTGTCTTAATGTGATGGGAGGCCTTCATCCCAAATTCCCCTGTATTTAAAACTATAAAAAAGAAAATATCCTGGCAGCTCTACTATTTGGTGAAGCTGAAAAAGATAAATATTCAAGTAGAGTTCTGGAAAAGGGGAAAAAAGCAAATGAACAAAGAACAAAAACAAGCCGTCCCTTTTCAAAATGTCATCTTGCCATGAAAGCTTCTTCAATTCGTTACCTAGAAGTGCAAATGTATTGAAAGTTTTACTC... |
Task1_train_6357 | The gene TGFBR2 (transforming growth factor beta receptor 2), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | CTTTTATTGCCTCTTTTGGATGAATTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAA... | CTTTTATTGCCTCTTTTGGATGAATTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAA... |
Task1_train_6358 | With a mutation on Chromosome 3 in gene TGFBR2 (transforming growth factor beta receptor 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GATGAATTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGT... | GATGAATTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGT... |
Task1_train_6359 | This mutation is located in gene TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Loeys-Dietz syndrome 2 | TTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTT... | TTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTT... |
Task1_train_6360 | Mutation context: Chromosome 3, Gene TGFBR2 (transforming growth factor beta receptor 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Loeys-Dietz syndrome 2 | TTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTT... | TTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTT... |
Task1_train_6361 | This mutation is located in gene TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Loeys-Dietz syndrome | TTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTT... | TTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTT... |
Task1_train_6362 | Given this variant in gene TGFBR2 (transforming growth factor beta receptor 2) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTT... | TTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTT... |
Task1_train_6363 | Mutation context: Chromosome 3, Gene TGFBR2 (transforming growth factor beta receptor 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Neoplasm | TTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTT... | TTCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTT... |
Task1_train_6364 | The variant affects gene TGFBR2 (transforming growth factor beta receptor 2), which is on Chromosome 3. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Loeys-Dietz syndrome | TCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTTC... | TCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTTC... |
Task1_train_6365 | This variant affects gene TGFBR2 (transforming growth factor beta receptor 2) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | TCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTTC... | TCCCTCAACCATGAAGGCCGAGGCTAAGTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTTC... |
Task1_train_6366 | This is a variant in TGFBR2 (transforming growth factor beta receptor 2), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Familial thoracic aortic aneurysm and aortic dissection | GTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTTCAAACTCTGTTGCCTCCTCTGCTGTATA... | GTTGTTGGTTTCCCTAAGGGCAAGGCAAATTCAGATAAGAAACAGAAACAACAAATCAGGCACAATCGGGAAGACAAATGGAGCAGGAAGTCTGGTCTGTGCCAGTCCTGGCCCAGAGCCACTTCAGCAGACAGACCTTAATAAAGTCCGAGGAGGTTGGCGAGGGGGAACCAGGCTGTGGTGGGTCACAGGCTTCTCTGGAGTTTTGAGCAAATCCTCTTTGACACTAAAACTGTAAGAATATTTTGCATAAATTCTGAAATCAGAATGTGCTGGAGTGTTATGTTTCTTTCAAACTCTGTTGCCTCCTCTGCTGTATA... |
Task1_train_6367 | The following genetic variant occurs in LOC129936407, STT3B (ATAC-STARR-seq lymphoblastoid silent region 14161| STT3 oligosaccharyltransferase complex catalytic subunit B) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; STT3B-congenital disorder of glycosylation | CATTTCAGCATGTACCGTTTGGGCTATGAGGAAAAGCATGTCATCTTTCTCTGTATAACAGAGGCAGTTAATATTTTATCCTAATTCTCATTAAAATGTGTACGTTCAATAAATGTCGGCTATTAAACTGTTGGTGAGAAAGTCTATTTCTGGAAACCTTTTCATTATTTCCTTAATAAGACTATTTATGGTTTTTTTAAGGAAACAAGACAAAACGTAACCACTTAGCAGGTTAAAAGGGTAGCTGGAGTTGCCTTACTTTCAAGGAGCTACCTCAAAATAACTAGGGTTCATTTATCTAATATTTTAAGACTTCTATT... | CATTTCAGCATGTACCGTTTGGGCTATGAGGAAAAGCATGTCATCTTTCTCTGTATAACAGAGGCAGTTAATATTTTATCCTAATTCTCATTAAAATGTGTACGTTCAATAAATGTCGGCTATTAAACTGTTGGTGAGAAAGTCTATTTCTGGAAACCTTTTCATTATTTCCTTAATAAGACTATTTATGGTTTTTTTAAGGAAACAAGACAAAACGTAACCACTTAGCAGGTTAAAAGGGTAGCTGGAGTTGCCTTACTTTCAAGGAGCTACCTCAAAATAACTAGGGTTCATTTATCTAATATTTTAAGACTTCTATT... |
Task1_train_6368 | Mutation context: Chromosome 3, Gene TRIM71 (tripartite motif containing 71). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hydrocephalus, congenital communicating, 1 | AGGTCTGAACTTGTGAAAGGCACTGTCCCTCAGTGCTCTTTGTCTGTATCAGGGCCCCTAGACACTGTCTTTCACATCCTTTTTCTACTTTTTAACACCTATCACTATCTGACATGATCCTTATTTCTTCGTTTGCTTTTGAATACTGCTTTTCTAAACTACAACTCTGTGTGAGCAAGGACCATATTTTATATTTTCTGTGGGTTACTGCAGTACCTCCAATGCCTGGCAAAGTGTAGGTGCTCAGTACACTCCTTTGTCAAATGGCTGTTTTTGGTTTTGGTGGTGGGATCTTGCTATTTTTTTAAGGTGGGATCTTG... | AGGTCTGAACTTGTGAAAGGCACTGTCCCTCAGTGCTCTTTGTCTGTATCAGGGCCCCTAGACACTGTCTTTCACATCCTTTTTCTACTTTTTAACACCTATCACTATCTGACATGATCCTTATTTCTTCGTTTGCTTTTGAATACTGCTTTTCTAAACTACAACTCTGTGTGAGCAAGGACCATATTTTATATTTTCTGTGGGTTACTGCAGTACCTCCAATGCCTGGCAAAGTGTAGGTGCTCAGTACACTCCTTTGTCAAATGGCTGTTTTTGGTTTTGGTGGTGGGATCTTGCTATTTTTTTAAGGTGGGATCTTG... |
Task1_train_6369 | Located on Chromosome 3, this mutation impacts TRIM71 (tripartite motif containing 71). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hydrocephalus, congenital communicating, 1 | ATGTACGTTTTGTCCCAATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTGAGACGGAGTCTCGCCCTGTTCCCTAGGTTGGAGTGCAATGGTGTGATCTCTACTCACTGCAACCTCCGCCTCTCGGGTTCAAGCGATTCTCCCCACATCAGCTTCCCAAATAGCTGGGATTACAGGCACCTGTTACCACACTTGGTTAATTTTTGTTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCTTCATCCTCCCAAAGTGCTGGGA... | ATGTACGTTTTGTCCCAATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTGAGACGGAGTCTCGCCCTGTTCCCTAGGTTGGAGTGCAATGGTGTGATCTCTACTCACTGCAACCTCCGCCTCTCGGGTTCAAGCGATTCTCCCCACATCAGCTTCCCAAATAGCTGGGATTACAGGCACCTGTTACCACACTTGGTTAATTTTTGTTATTTTTAGTAGAGACAGGGTTTTGCCATGTTGGCCAGACTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCTTCATCCTCCCAAAGTGCTGGGA... |
Task1_train_6370 | Consider a variant on Chromosome 3 in gene GLB1 (galactosidase beta 1). Determine its clinical classification and disease relevance. | Pathogenic; GM1-gangliosidosis, type I, with cardiac involvement | GAACTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATC... | GAACTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATC... |
Task1_train_6371 | A variant was discovered in gene GLB1 (galactosidase beta 1), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; GLB1-related disorder | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... |
Task1_train_6372 | A mutation found in GLB1 (galactosidase beta 1) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... |
Task1_train_6373 | This variant lies on Chromosome 3 and affects the gene GLB1 (galactosidase beta 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; GM1 gangliosidosis | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... |
Task1_train_6374 | A variant on Chromosome 3 in gene GLB1 (galactosidase beta 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... |
Task1_train_6375 | Here’s a variant in GLB1 (galactosidase beta 1) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; GM1 gangliosidosis | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... |
Task1_train_6376 | This alteration in GLB1 (galactosidase beta 1) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Infantile GM1 gangliosidosis | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... | CTGCAATTCACCAATGTACATATGCTTTAAAAGGAGTCATTTCACATTTCTTTCCAAAGCTTATCACTGTTTGGCCATGGTTCTTGAGTATCATTTTATGTTTTTGGTAACTGTGCAGTGGAGGAGTAATGAAATGAGGGTATGAGTCCATGTAGCACCTCCTTCGCCCTGTGATCTGCCCAAACATCAAATGGTGCAGAACATCTAGAAAAAGGTACTATGGAAAAACGTCCTTAACTAAGTTCCAGTGTTTGTTTCGGCTCATCTATGCCACTTGCAGCTGGCTCAACCTGTGTTTAAAGACTCACTGTTCAATCTCA... |
Task1_train_6377 | A mutation on Chromosome 3 affecting GLB1 (galactosidase beta 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | TCCTCTTCAGTCTTCATCATGTTTTTGTCCCTCAAACATCAGCCTTACGTCCTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCC... | TCCTCTTCAGTCTTCATCATGTTTTTGTCCCTCAAACATCAGCCTTACGTCCTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCC... |
Task1_train_6378 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; GM1 gangliosidosis | TCCTCTTCAGTCTTCATCATGTTTTTGTCCCTCAAACATCAGCCTTACGTCCTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCC... | TCCTCTTCAGTCTTCATCATGTTTTTGTCCCTCAAACATCAGCCTTACGTCCTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCC... |
Task1_train_6379 | This sequence change occurs on Chromosome 3, altering GLB1 (galactosidase beta 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; GM1 gangliosidosis | CTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATT... | CTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATT... |
Task1_train_6380 | This is a variant in GLB1 (galactosidase beta 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | CTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATT... | CTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATT... |
Task1_train_6381 | A sequence alteration has been identified in GLB1 (galactosidase beta 1) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | CTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATT... | CTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATT... |
Task1_train_6382 | The gene GLB1 (galactosidase beta 1) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Infantile GM1 gangliosidosis | CTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATT... | CTCTTTTCTTCCCTCTGCATCCTCTCTCCTTGAGAGACCTCATCCAGCCCATGTTTTCAACAATCATCTATACAACAATGATCTTCTACATACATTCCTGGCCCAGATCCCTGCCCTGAATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATT... |
Task1_train_6383 | This is a variant in GLB1 (galactosidase beta 1), located on Chromosome 3. Is this mutation a likely cause of disease or not? | Pathogenic; GM1 gangliosidosis | ATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCATAAAAGAGACCCAAGAGAGCTCCTTTGCCCCTTCAGCCATGTAAGGACATAGAGGGTGCTGTCTATGATGAAGTAGACTCTCACCAGACAGCAAATCTACTGGTGCCCT... | ATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCATAAAAGAGACCCAAGAGAGCTCCTTTGCCCCTTCAGCCATGTAAGGACATAGAGGGTGCTGTCTATGATGAAGTAGACTCTCACCAGACAGCAAATCTACTGGTGCCCT... |
Task1_train_6384 | The gene GLB1 (galactosidase beta 1) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | ATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCATAAAAGAGACCCAAGAGAGCTCCTTTGCCCCTTCAGCCATGTAAGGACATAGAGGGTGCTGTCTATGATGAAGTAGACTCTCACCAGACAGCAAATCTACTGGTGCCCT... | ATTCCCAGCCTATAGATCCAACAACCCTCCTCCAATACTGTCTTTCCCAGCCATTCTCCAAGGCCTCTGCTATGGTCTGAATGTTTGTGTCCACCCAAAACTCATCTGTTAAAATTCTAGCCCCCATGTGATGGGTTAGGAGGTGGGGCCCCCTCTGGGAGGTGATTAGGTCATGAAGGTGGAGCCCTCATGAATGAAATTAGTGTCCTCATAAAAGAGACCCAAGAGAGCTCCTTTGCCCCTTCAGCCATGTAAGGACATAGAGGGTGCTGTCTATGATGAAGTAGACTCTCACCAGACAGCAAATCTACTGGTGCCCT... |
Task1_train_6385 | With a mutation on Chromosome 3 in gene GLB1 (galactosidase beta 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Infantile GM1 gangliosidosis | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... |
Task1_train_6386 | Located on Chromosome 3, this mutation impacts GLB1 (galactosidase beta 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; GM1 gangliosidosis | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... |
Task1_train_6387 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... |
Task1_train_6388 | Mutation context: Chromosome 3, Gene GLB1 (galactosidase beta 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Infantile GM1 gangliosidosis | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... |
Task1_train_6389 | Here is a mutation in GLB1 (galactosidase beta 1) on Chromosome 3. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; GM1 gangliosidosis type 2 | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... |
Task1_train_6390 | This alteration occurs within gene GLB1 (galactosidase beta 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; GM1 gangliosidosis type 3 | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... |
Task1_train_6391 | A genomic change on Chromosome 3 affects GLB1 (galactosidase beta 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; GM1 gangliosidosis | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... |
Task1_train_6392 | Given this variant in gene GLB1 (galactosidase beta 1) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... | AGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTA... |
Task1_train_6393 | This alteration occurs within gene GLB1 (galactosidase beta 1) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; not specified | GGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTAGTG... | GGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTAGTG... |
Task1_train_6394 | This sequence variant lies in GLB1 (galactosidase beta 1) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | GGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTAGTG... | GGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTAGTG... |
Task1_train_6395 | Gene GLB1 (galactosidase beta 1) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; GM1 gangliosidosis | GGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTAGTG... | GGCTCATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCAGACAGATCACTTGAGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTAGTG... |
Task1_train_6396 | The gene GLB1 (galactosidase beta 1) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; GM1 gangliosidosis | AGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTAGTGTGGGGGCATGCACGTATAGTCCCAACTACTTGGGAGGCTGAGAAGGGAGGATTG... | AGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTAGTGTGGGGGCATGCACGTATAGTCCCAACTACTTGGGAGGCTGAGAAGGGAGGATTG... |
Task1_train_6397 | Here is a genetic alteration in GLB1 (galactosidase beta 1) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Mucopolysaccharidosis, MPS-IV-B | AGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTAGTGTGGGGGCATGCACGTATAGTCCCAACTACTTGGGAGGCTGAGAAGGGAGGATTG... | AGGTTAGGAGTTCAAGACCAACCTGGCCAACATGATGAAACCCCATCTTTACTAAAAATACAAAAGTTAGCTGGGTGTGGTGGCAGGTGCCTGTAATCCCAGATACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGACAGGTGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGTACTCCAGCCTGGGTGTCAGAGCGACACTCCATCTCAAAACAAAAAGGGATCCAGTCTCTACAAAACATACAGAAATTGGCCTAGTGTGGGGGCATGCACGTATAGTCCCAACTACTTGGGAGGCTGAGAAGGGAGGATTG... |
Task1_train_6398 | A variant found in Chromosome 3 affects GLB1 (galactosidase beta 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Infantile GM1 gangliosidosis | TCATTTTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCC... | TCATTTTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCC... |
Task1_train_6399 | This mutation occurs in GLB1 (galactosidase beta 1) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; GM1 gangliosidosis | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... | TTAATCTCCAACTTCTGGACTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACCACAGGTGCATGTCACCACACCTGGCTAAGTTTTTAATTCTTTGTAGAGGTCTCACTATTTTACCCAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCTCCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTACTGGGCTTCAACTTCTAAGTTGTCACCCCTTAAACCTTAGTCTTGACAGTGTGGTTTGTCCTACCTTAAAATCGTTGATATATGCACCATAGTTCACACGTCCCATGTT... |
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