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 |
|---|---|---|---|---|
Task1_train_21700 | A variant was discovered on Chromosome 15, affecting BBS4 (Bardet-Biedl syndrome 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Bardet-Biedl syndrome 4 | AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGT... | AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGT... |
Task1_train_21701 | Here is a genetic alteration in BBS4 (Bardet-Biedl syndrome 4) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Bardet-Biedl syndrome | AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGT... | AGGCATTAGCCACCACGCCTGGTCTGGCCAGACTCTTTTAACTGCCGTCTCCTTGCTGATGTAAATTGTCTTGTTTGCTTTTTTTCCAAGCTCGGCATTTACCAGAAGGCATTTGAACATCTTGGCAATGCACTGACTTATGACCCTACCAACTACAAGGTATTACAGGCTGTGAAGGCTCTGGCCTTCATATAGACGGTCCCACTGCTCCTAGAGGTGATCTGACCCTGGAAAGCAAAGGAATAGCTTCTTAAATTTGGATACCTGAGAAATAGAAAAAATATAAATAAAAGGTGGCTCTTCTTATTTGAAAATAGTGT... |
Task1_train_21702 | This is a variant in HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Sick sinus syndrome 2, autosomal dominant | ACTCCCACCCCTGCCCAGCCCCGGAGACCCCATCTGCCTTTCTCTGGCTTTTGCATTTGGGACCTGCCTGCTCCCTCCTCCCTCCCCCTCCCTCCCTCTAGTGCTGAGTATTAAAATAGTCTATAAAAGCAAGTGACCAAAAATCTATAGCTCTAAGAATACCTGGTTATTTTCTGCTGTCTTTTGTTTTTCTGGTGTGTGTGGTTTTTTAAATAATTATTACTGTTATTGGTATATCTCCTAATCACAGTTAAACCTGAAGGAAGAAGGAAGGGAGAGAAAAGAAGAAAGAAGAGGGAAGGAAGGGCCCAGCTCATAGA... | ACTCCCACCCCTGCCCAGCCCCGGAGACCCCATCTGCCTTTCTCTGGCTTTTGCATTTGGGACCTGCCTGCTCCCTCCTCCCTCCCCCTCCCTCCCTCTAGTGCTGAGTATTAAAATAGTCTATAAAAGCAAGTGACCAAAAATCTATAGCTCTAAGAATACCTGGTTATTTTCTGCTGTCTTTTGTTTTTCTGGTGTGTGTGGTTTTTTAAATAATTATTACTGTTATTGGTATATCTCCTAATCACAGTTAAACCTGAAGGAAGAAGGAAGGGAGAGAAAAGAAGAAAGAAGAGGGAAGGAAGGGCCCAGCTCATAGA... |
Task1_train_21703 | The gene HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Left ventricular noncompaction cardiomyopathy | GACAACTCCCCGGGAGGCTGGCCCAGCTGCCCGGGGCTAGATGACGGGGATCTGGATGAGGGTGGGGGTGGCAGGAAGTGCTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGA... | GACAACTCCCCGGGAGGCTGGCCCAGCTGCCCGGGGCTAGATGACGGGGATCTGGATGAGGGTGGGGGTGGCAGGAAGTGCTCCGGGAGTCCCAGGCCTCCCCGGGCCCCGGGTGGCGCGGGAGATGGCTGGGCAGCCTGCGGGGAGCGGGCGCCTGGCTGCAGCGGGGTGAGCAGGGGAGAGTCGGAGGAGGACAGGGAGCCACCCAGCGCCTTGTGGAAGTGGCCAAACCCGGCTATGGTGGTGGCGGCTACGCCAGCTGATGGTGTGGGAGCCGAGGGGGAGCCACAGGCCCCGGGGGGTGGGGAGGAGCTGGATGA... |
Task1_train_21704 | This genomic variant is located on Chromosome 15, within the HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Brugada syndrome 8 | CTCCCTAGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTG... | CTCCCTAGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTG... |
Task1_train_21705 | This variant impacts the gene HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Sick sinus syndrome 2, autosomal dominant | AGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTGCCAGGC... | AGGAGGTAGAGAAGGGTCCTCTAACCTAGGACCCTGTGTTCTAGCCAGGCTAATTTCTCTGCCACCACCCCTATGCTCATCCTCATCCTGATGCCTGGCCTAGAATTCTCTTCCACCTTCTCCTTCCTCTGCTTCCCCACAGTGAGCTCTCCTTGCCTCCCAGCTCTGTAGGCTCTCCTGAGCTCTCTTCTTGGCATCATGGGACCTGGACCTCCACACCTGGGTGGCCCCCACCTGTCAGTCACCCCACCAAAGGACAGTGCCTGGGACAGGCAGGCAGGCAGTGAATCCACAAATGCTGACCCTACTGTGTGCCAGGC... |
Task1_train_21706 | With a mutation on Chromosome 15 in gene HCN4 (hyperpolarization activated cyclic nucleotide gated potassium channel 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Sick sinus syndrome 2, autosomal dominant | GATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCC... | GATATGCTTCCCTTGGGGGGACAAGCTCTGGCGGACTGAGCCGAAAAACACTGTCCTCATTTTGGATGAGCAAAAGTTAAAGCTGTGAGCTAACGGGCCTCCTGCATGAACCCTGCCCGCCTCTGCTAGGGCTGCGGCCACCAGTTCTCCTCCCACTACCCCCAAGGCAGACTCTCCGGAACACACAAGGCGTGGGGACAGGAGGAGGGAAGCTCTTGGCTATTTTTGTCTACAAAGCCAGTCGGTGTCTCAAGGAAGGCTCAGCGTGGGAACACTGGGATCGGAAGGGCCATCTCTTGAATTTAGTGCATGTGTGGGCC... |
Task1_train_21707 | A genetic alteration is present in LOC126862173, HCN4, LOC105370890 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:73635762-73636961| hyperpolarization activated cyclic nucleotide gated potassium channel 4| uncharacterized LOC105370890) on Chromosome 15. Is this variant benign or disease-causing, and if the lat... | Pathogenic; HCN4-related disorder | GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGG... | GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGG... |
Task1_train_21708 | Mutation context: Chromosome 15, Gene LOC126862173, HCN4, LOC105370890 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:73635762-73636961| hyperpolarization activated cyclic nucleotide gated potassium channel 4| uncharacterized LOC105370890). Determine if this variant is likely to be benign or pathogenic. Mention... | Pathogenic; Brugada syndrome 8 | GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGG... | GCTAAGGCTTTATAAACATCAGGTACAACTTATACCTATTTTGCAGATAAAGAGACTGAGGCACAGAGAGGCAAAGTGGACCCAAAGCTACATGCTAGGCAGTGTGGAGCCGGGATTTTAACTTGGGTCTTAAATGCGCCATTCCACTACACCGGGGTGGGACAGCCCACACTATGTGCTGGGGGCCAAGAGGGCTAGCTGGATTCTGTCCCAGTTCTACCAGAGGTCTAACTGCATGACCTTGGGAGAGTCACGGCCCCTCTCTGTCAGCATAAGTAATGTGAATTTTCCAAGCCAAAGAGAATTTCTGCCATGGAGGG... |
Task1_train_21709 | The gene REC114 (REC114 meiotic recombination protein), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Oocyte maturation defect 10 | CACTTATAAGTGGGAGCTAAATGATGAGAACACATGAATACATAGAGGGGAACAACACACACTGGGGCCTTTTGGAGGTAGAGGAAGGAGAGGATCAGGAAAAATAACGAATGGGTACTAGGCTTAATACCTGGGTGACGCAATAATCTGTACAACAAACTCCCATGACACAAGTTTACCTATGTAAAAAACCTGCACTTGGACCCTTGAACTTAGAATAAAAGTTAAAAAAAAAAATTATGAGATCTTGTTACTTACAACAACATGGATGGAACTGGGGGTCATTACGTTAAGTGAAATAAACCAGGCACAGAAAGACA... | CACTTATAAGTGGGAGCTAAATGATGAGAACACATGAATACATAGAGGGGAACAACACACACTGGGGCCTTTTGGAGGTAGAGGAAGGAGAGGATCAGGAAAAATAACGAATGGGTACTAGGCTTAATACCTGGGTGACGCAATAATCTGTACAACAAACTCCCATGACACAAGTTTACCTATGTAAAAAACCTGCACTTGGACCCTTGAACTTAGAATAAAAGTTAAAAAAAAAAATTATGAGATCTTGTTACTTACAACAACATGGATGGAACTGGGGGTCATTACGTTAAGTGAAATAAACCAGGCACAGAAAGACA... |
Task1_train_21710 | Given a variant located on Chromosome 15 and affecting STRA6 (signaling receptor and transporter of retinol STRA6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Matthew-Wood syndrome | CATGCGCTAGGCCACCTTGGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCC... | CATGCGCTAGGCCACCTTGGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCC... |
Task1_train_21711 | A variant was discovered in gene STRA6 (signaling receptor and transporter of retinol STRA6), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Anophthalmia-microphthalmia syndrome | GGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCCTCTCTGACCTGCTCCTCC... | GGGTAAGTCATTGCCCACGTCTGGGCTTCAGTTGCCTCAAAAACCAAATGACATGGTAGGACTAGGTGCTACTTCATGGTCCAATAGACTCTGATTGCCTAAGGCTTGATATTCCCAGCCTGACTTGGACATCCCTGGCTCCATTCCTAGCTGAGTGGCTTGGCTTCTTGGAGTAGGACATGGACCTAAGACCTAACACAGGGAATGGCTGTGCCTTGAGTGGACTAGCTGCTCCCCTGCTTTAAGGTCTTCCGTGGTCCCCACTGCCCTCCAGGTAAAGCCTGAATTCCCCACTTAGAGCCTCTCTGACCTGCTCCTCC... |
Task1_train_21712 | This mutation occurs in STRA6 (signaling receptor and transporter of retinol STRA6) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Anophthalmia-microphthalmia syndrome | GGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTC... | GGTATTTGAGGCTGTAGCAGGAACCTGAGCTTGGGGCAGGGGACTGTTGATCTCCACTAACTGTGCAGGCATTTCTCAAGGCCCTGCTGACCTAGATCTGTAGGGTGGCCACATCTTCCTACCCTCTGTAGCCCCCAGCCCCTCAGTGGACCCAGGGCATGTTCTTTATTCATATACCCCGCCCTCCACCTCCACCAAGCCCCCAGTAGGGAAAAGACCCCAGTCTGTCTCCACCCTCCTTTCCCCTCCGTATTCTCATTCTCCTCCCATCAGGACAGCCTACGCTATGTCCCCCCATGTGACACGCCCCTTCCTACCTC... |
Task1_train_21713 | The gene STRA6 (signaling receptor and transporter of retinol STRA6), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Matthew-Wood syndrome | TCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTG... | TCCAAAGCCAGCATTCACATGGCTCAGGGGTGGCATCATAGGGTCCCCAGTCTCTTTGCCACCCAAAAGGATGCAGCTATGGGTTCTGCCTTCCACCCAGTGTCTGGCCCAGCATGTGACCAGAACACCCCAAGCCCCATCCCCATCAATGCACAGTGTTCCTGACAGTGTAGGCGGGGTTTTCCCTGCATACCCCTCCCGCTATGAGGACAGTTTCTCAGGAACAAGTTTATTGCAGGGAACACACTAACCTCTTTCATAATAGCCAAAGGCATAAAAACTACAAAAATATCTGGCTCTCGAGTGTGGGCAGCTCAGTG... |
Task1_train_21714 | Mutation context: Chromosome 15, Gene STRA6 (signaling receptor and transporter of retinol STRA6). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Anophthalmia-microphthalmia syndrome | GTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCA... | GTCTGTGGATGGACTGGAAGCTGGGTGGGACAAGGGTCTGGAGCTGGCTTAGTGTCCCCTCCCTACACACACTTCTGGGCAGAAGGAAAGGAGGAGTCATACTCCCTGCCCCAAGGGAGAAGCGGGGGCAGTGACGGAGCCCCTTAGGAAGGCAGCTGTTTCATTCTCTCTGTGTGCACACATATGGTGTGTGTATGTGTGTGTTCATATCATGGAAAAAATCACCCTGAGATCAGACCAGGAGGGGTGACCAAAGGCAGCCAAGGAAGAGAGGAAGTGAGAATTTTCCTGGCGCTCACTCTGTGTGCTGGGGAGGGGCA... |
Task1_train_21715 | This mutation is located in gene STRA6 (signaling receptor and transporter of retinol STRA6) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; STRA6-related disorder | GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTA... | GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTA... |
Task1_train_21716 | Here is a genetic alteration in STRA6 (signaling receptor and transporter of retinol STRA6) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Matthew-Wood syndrome | GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTA... | GGCCTGGCCTTTGATCTCCATCCATCTACCTCCTACCTCTCTCTCCCTCCACTGGTTCCCAACTTGGGCACCCCCAAACCCCAGCACTCACACAATCTTCCTGCTCTTTGCCACCTCTGGGATCCTGTGCCTGCCTTCTTCTGGGCCCTGCTTTGGGGGATAGATCTGTCTTCCCTCATGTGATTGAGGGCCTCAAGGGCAAGTGTTCCTTTTTCACTCCAGCACTCATTTTGCAGTTGGGGAAATTGAGGTCAGGAGAGGTAATGCACTTTGCCCAAGGTCACTCAGCTTGTAAGTGATGGAACAGAGATTCTAATCTA... |
Task1_train_21717 | Chromosome 15 houses a mutation in gene STRA6 (signaling receptor and transporter of retinol STRA6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | GATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTG... | GATAGTTGGTCAGAGACACTGGGGGTGGTGGGGGAAGATGCCACAGAAGCAGGCAAGGGACAGGAGCTGCTGAGATGTCCCTTCAGGTTTCATGGAAGCTCAGAACTGGAAGCGCCAACTGCCACAATTTGGAGATGAGGCAATCGAGACCCAGAGAGAGGAAGGAATGTGTCCAAGGGCCCCCAGTGTGTCCATGGCTGACTAGGGCATAGACCTTGGGTCTCCCCGCTTTCATTCCCCACTGCAGCCCTCAGGGGCTCCCTGGAGGCCTCACCTTCCAGAGCCCACAGATGGTGCTTCACCAGCTCCACCACCTCCTG... |
Task1_train_21718 | Given a variant located on Chromosome 15 and affecting STRA6 (signaling receptor and transporter of retinol STRA6), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Matthew-Wood syndrome | CCTTCTCGAGCCCTGCAGAGATGCTCACCCCTCCCCCAGGCTCCTGGATCCCCACGGGCCTGAGAGGAGCCAAGAGGAGGAGATCACTTGATTCCCTCCTGCCCCCCACTGGAAAGGACACCTCTTTCTGTTTCTGTGTTCCCGGAGCATTAGGAACAGTTCTGAAAATCACACGAAAGCCTGCCTTTGCCTACATATAGTTTTCAACCTGAGCATCAGGAAAGTCTATGCCCTACTCCTCAGGGCTGAGGCCTTCCTGGGGGTGGGCTTTTTGTATACTCATTCATTTATTTGTTGGTTCAATATACTTTTATTGAGAG... | CCTTCTCGAGCCCTGCAGAGATGCTCACCCCTCCCCCAGGCTCCTGGATCCCCACGGGCCTGAGAGGAGCCAAGAGGAGGAGATCACTTGATTCCCTCCTGCCCCCCACTGGAAAGGACACCTCTTTCTGTTTCTGTGTTCCCGGAGCATTAGGAACAGTTCTGAAAATCACACGAAAGCCTGCCTTTGCCTACATATAGTTTTCAACCTGAGCATCAGGAAAGTCTATGCCCTACTCCTCAGGGCTGAGGCCTTCCTGGGGGTGGGCTTTTTGTATACTCATTCATTTATTTGTTGGTTCAATATACTTTTATTGAGAG... |
Task1_train_21719 | This genomic variant is located on Chromosome 15, within the CYP11A1 (cytochrome P450 family 11 subfamily A member 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | GGGCAGGAGAGCAGATTGGGCCAGGGGAAAGGAGGCACCTACAGGGAGTCAGGAGGCCCAGGTTCTGGGGGCAAACAGGCTGTGTGACCTCAAGGGACCCAAGCAACCTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTC... | GGGCAGGAGAGCAGATTGGGCCAGGGGAAAGGAGGCACCTACAGGGAGTCAGGAGGCCCAGGTTCTGGGGGCAAACAGGCTGTGTGACCTCAAGGGACCCAAGCAACCTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTC... |
Task1_train_21720 | This alteration occurs within gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | CTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTCGGGCAGGAGAGGCCAGGCCAGCTGGACCACTGGCCTCAGCTGGACTAGCTCCCCCACCTGCCTGCAGGACTTAGACTTGGATAGCCGAGGGCCAAGAGGAATCAGGT... | CTCTCTGGACTTCAGTTTCCCCATCTATTCCATGTAGAGCTTGACCTCATTGGCTGTAAGCCTCTTTCCAGCTATAACATTTCTGAGTCAAAGCTGACTCAGGACCAGAGAAGAAAAAGGACACAGGAAGGAAAGACAAAGACAACAGGGAAGAGGATTTTGTGGTGGGGAAAGCAGAAGGGCTCCAAGAGTGGATCCAGATCCCACAGCTTCGGGCAGGAGAGGCCAGGCCAGCTGGACCACTGGCCTCAGCTGGACTAGCTCCCCCACCTGCCTGCAGGACTTAGACTTGGATAGCCGAGGGCCAAGAGGAATCAGGT... |
Task1_train_21721 | A variant was discovered in gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | TGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTT... | TGGGTGAGGGGGTCCCAGCAGAGGTGGCTTCAAGTGTGGCTACCTGGGGTCTCCTGAGCATGCCCAGATCCTGCTTTAACACAGGAAGCATCTCCACGGGAGTGATGAACACCTAATGAGTCTGATGGAACGCAAGACACCACATGGTTCAGCTGTTTATTGTCTCCATGGGGTGGGTGAAGAGGAGTGGCCCAGCTGAGCTGAGGAAGGTGACCACTGAGAACCCATTCAACCTGCTGAGCAGGCTGGGCAGAAAGGAGCAGGACTTGGGACAGACGACTGAAGATGCAGAGACCCCATGGGCCCCACCCCTGGGCCTT... |
Task1_train_21722 | A genomic change on Chromosome 15 affects CYP11A1 (cytochrome P450 family 11 subfamily A member 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | GAAAGAGGCCTTTAGAATGCACCAACCCTGCCAACACCTTGACCTTGAACTTCCAGCCTCCGGAACTGTGAGAAAATCAATGTTTGTTGTTTAAATCGCCCAGTCAATGCCATTTTGTTACAGCGGCCCTAGCAAACCAGTACACCCCTCCCCTCTGAGCCACGTGAGGACATTTGAGGTCTACTGTATTCCTTTTGAGATGGAGTCTCACACTACCACCTGAGCTGGAGTGCAGTGGTGCGATCTCGGCTCACCACAATCTCTGCCTCACGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGTA... | GAAAGAGGCCTTTAGAATGCACCAACCCTGCCAACACCTTGACCTTGAACTTCCAGCCTCCGGAACTGTGAGAAAATCAATGTTTGTTGTTTAAATCGCCCAGTCAATGCCATTTTGTTACAGCGGCCCTAGCAAACCAGTACACCCCTCCCCTCTGAGCCACGTGAGGACATTTGAGGTCTACTGTATTCCTTTTGAGATGGAGTCTCACACTACCACCTGAGCTGGAGTGCAGTGGTGCGATCTCGGCTCACCACAATCTCTGCCTCACGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGTA... |
Task1_train_21723 | A variant was discovered on Chromosome 15, affecting CYP11A1 (cytochrome P450 family 11 subfamily A member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | TCTGTAGAGGATGCCACGGTAATCGTGGTGAACACTTCCTTTCTGTCTCAATTCCCAGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACAT... | TCTGTAGAGGATGCCACGGTAATCGTGGTGAACACTTCCTTTCTGTCTCAATTCCCAGTAGAAGTTCTGGGTGTATATGTCAGCTGTGGGGAAGGAGGAAAGAAAAAAGAGTGAGGTTCCCTGCAGGCGGGTGGGAAGGAGGGCAGTCTGTGGTGAAAGGTGGCACCAAGGGCCTGGGGATTCCGGAGCCCTGTGCTTCTTAGGCTGCCGTTTTACTGAGCACGTACTCTGTACTAAGCCCTTCATATCTGTTTTTTCATCGAATTCTTGGGGTATGTGACATCATCCCCATTTTACAGATAACAGAGGTGCAGAGACAT... |
Task1_train_21724 | This variant affects the gene CYP11A1 (cytochrome P450 family 11 subfamily A member 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | TATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTG... | TATCACAAACTTACCACCCACCATAGAAACTAGGAACTTGACAGTAACTTACACTTGCCCTCCTGGTCCTTCCACATCCTTTGTTCCCTTCTAAGGAGACCACCCACTAGAATCCCTTGCTCTCATTTGTGTCTAATTTTATCTGATCTCCATTTATTCCCAAAAGGTACTATTACAAAATATATACTAGTGTTTAACTTCTTTTAAAAAGCTGTCGGTCAGACACAGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGACCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTG... |
Task1_train_21725 | This variant lies on Chromosome 15 and affects the gene SEMA7A (semaphorin 7A (JohnMiltonHagen blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Cholestasis, progressive familial intrahepatic, 11 | GGGTCAGGGAGCAGGAAGACGTCTTGCAGCCTGTTGAAGTTCTTGTTGGTGGCAGCATCACTGCATACCAGCATGGCTTTCAGAAAAGTGTTCCACTTGGAGACTGACAGTGAACTTTCCCCACCCTGGTCCCCCTGGAAGGGTAGAGGGGAGAAGAGGCCCCTCAGCACCTGCCCGGGCTTCCCCACACACCCCAGGAAACCACTGCCAGCAATATCAACACCTGGGCCCAGAGGAGGAAGGCAGGCTGTGAGGGGCCAGGACCTGCCGGGGGTGCCCCAGGACTCAGGGCAGGTCTCCAGATGAGACTCCAGCAAGCA... | GGGTCAGGGAGCAGGAAGACGTCTTGCAGCCTGTTGAAGTTCTTGTTGGTGGCAGCATCACTGCATACCAGCATGGCTTTCAGAAAAGTGTTCCACTTGGAGACTGACAGTGAACTTTCCCCACCCTGGTCCCCCTGGAAGGGTAGAGGGGAGAAGAGGCCCCTCAGCACCTGCCCGGGCTTCCCCACACACCCCAGGAAACCACTGCCAGCAATATCAACACCTGGGCCCAGAGGAGGAAGGCAGGCTGTGAGGGGCCAGGACCTGCCGGGGGTGCCCCAGGACTCAGGGCAGGTCTCCAGATGAGACTCCAGCAAGCA... |
Task1_train_21726 | A variant on Chromosome 15 in gene EDC3 (enhancer of mRNA decapping 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Intellectual disability, autosomal recessive 50 | AGATGAATGCAATACTTAAGCTAAATCTGGCCAGGGCAGGGGGAATGAGTGGCTAAGCAAAGAACAGCAGGGAGAAAGGCATCTCAGGTAGGGGCTCAGAGACTGAGGAAATGTAGAAAATATGGCCCACGTGAGGAACTGCAAGTGTTATGGTGATACTAAAGGGACGGATGTTGTGGAAGGCCATCAGGAAGTAAGGTTGCAGAGGTAACCAAGGACCACATCATGATCACAATGGATTTTCCTGGTGGCTATAGGGAAGGAGAAGAAAAAAGAGGCAGTGGTACCAGTTAGAAGACCAAGCAAGAAATAAGAGGGGA... | AGATGAATGCAATACTTAAGCTAAATCTGGCCAGGGCAGGGGGAATGAGTGGCTAAGCAAAGAACAGCAGGGAGAAAGGCATCTCAGGTAGGGGCTCAGAGACTGAGGAAATGTAGAAAATATGGCCCACGTGAGGAACTGCAAGTGTTATGGTGATACTAAAGGGACGGATGTTGTGGAAGGCCATCAGGAAGTAAGGTTGCAGAGGTAACCAAGGACCACATCATGATCACAATGGATTTTCCTGGTGGCTATAGGGAAGGAGAAGAAAAAAGAGGCAGTGGTACCAGTTAGAAGACCAAGCAAGAAATAAGAGGGGA... |
Task1_train_21727 | This sequence change occurs on Chromosome 15, altering MPI (mannose phosphate isomerase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; MPI-congenital disorder of glycosylation | CACTTTACCCGCAGGTCAGGAGAAAGGGCCTGAGGCAAGTCATAAGAATCAGCTGGGAAGGGTGAGGCAGCAAGGAGGGAGGAGACCCACTTGGCTCTTCAGGCTAATGGACTAGATAGTGTTATCAAAAAGAAGAGAGGTTTTGTCATAATAGGCTGGGATTTCCAGCACTCTCCTTCCCCCAACCACTCTTAGCACTTAGTGAATTTTAATTCAGCCCTCTTTGACAATTAAGTTTTTTTACTTTGACTATTTTTTTGCATTTTTATTAACCTAAAATATTTCTCCTGCCTATTTAGTGGAGAAAAAGCCAAAGCATA... | CACTTTACCCGCAGGTCAGGAGAAAGGGCCTGAGGCAAGTCATAAGAATCAGCTGGGAAGGGTGAGGCAGCAAGGAGGGAGGAGACCCACTTGGCTCTTCAGGCTAATGGACTAGATAGTGTTATCAAAAAGAAGAGAGGTTTTGTCATAATAGGCTGGGATTTCCAGCACTCTCCTTCCCCCAACCACTCTTAGCACTTAGTGAATTTTAATTCAGCCCTCTTTGACAATTAAGTTTTTTTACTTTGACTATTTTTTTGCATTTTTATTAACCTAAAATATTTCTCCTGCCTATTTAGTGGAGAAAAAGCCAAAGCATA... |
Task1_train_21728 | The following genetic variant occurs in MPI (mannose phosphate isomerase) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; MPI-congenital disorder of glycosylation | TGGGAGGCCTTTCCCAGGACTCAGTTGCCCTGTGGGGAGCACAGCATAACGGATTGGGACAGGCCAACTCAGGGTGGCAGGTTTCTTCCCCCTTCCCCTCCCAAGTTTCCTGTCTTTCCAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAGATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGACAGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACA... | TGGGAGGCCTTTCCCAGGACTCAGTTGCCCTGTGGGGAGCACAGCATAACGGATTGGGACAGGCCAACTCAGGGTGGCAGGTTTCTTCCCCCTTCCCCTCCCAAGTTTCCTGTCTTTCCAGTTGTGGATGGGGACTCACCCCCGAGGGGATGCCAAGATCCTTGACAACCGCATCTCACAGAAGACCCTAAGCCAGTGGATTGCTGAGAACCAGGACAGCTTGGGCTCAAAGGTCAAGGACACCTTTAATGGCAACCTGCCCTTCCTCTTCAAAGTGCTCTCAGTTGAAACACCCCTGTCCATCCAGGCACACCCTAACA... |
Task1_train_21729 | Here is a variant affecting MPI (mannose phosphate isomerase) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; MPI-congenital disorder of glycosylation | GCATGTTGGTTACCCTTCATGAAACTCTTTTGCGTTATCTCCCTAGATTTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAA... | GCATGTTGGTTACCCTTCATGAAACTCTTTTGCGTTATCTCCCTAGATTTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAA... |
Task1_train_21730 | Given this variant in gene MPI (mannose phosphate isomerase) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; MPI-congenital disorder of glycosylation | TTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAATAGTCAAGATATGATGAAAGATGGTATTTGTATGGACTGGAGTATCAA... | TTTGAGCTCCAAGGGCAGTGGTTCTCATACAGGGGACATTTGGCTGTTGTCTGGAGCCATTTTTTGATTGTCAAAACCCAGATAGGGGTTGCTAGTGGCATCTTGTGGGTGGAGGCCAGGGAAGCTGCTACACATCCATCAGTACACAGGACAGCCCCCACAATAAAGAATTACCTAGCCCAAATGTCAGTAGCGCCAAGGCTGAGAAATCCCATCCTGAAAGGACCATACTCTAGCTCTTTTAGTGGCTAGTATAGTCCTGGGCATATGAATAGTCAAGATATGATGAAAGATGGTATTTGTATGGACTGGAGTATCAA... |
Task1_train_21731 | The variant affects gene COX5A (cytochrome c oxidase subunit 5A), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Mitochondrial complex 4 deficiency, nuclear type 20 | AAGTTTTTTCATTTGCCTCCAATTTGAGACCTTAACTGAATTAACTACCAGTGCTGAATGGATTGATAGCCTACAGAACCCTTAATTATCTTACCCATTATAGATAAAGTAATGTCACACTTTTGCTGTTAACGGACCTTAAGTTTCTTTCTTACAGACCACAGTATCTTTTCATGGAGAGCTGTACTTTGAGAATACATATGTCCAGGGCTGGAGACTTTTCACTGTAATATATAGTTACACCTGTGCTGTCACAAGGTTCCTTAGGAACGAATAAGAAGTCAAAAGAACTAAGAAAGTGCCGGCCGGGCGTGGTGGCT... | AAGTTTTTTCATTTGCCTCCAATTTGAGACCTTAACTGAATTAACTACCAGTGCTGAATGGATTGATAGCCTACAGAACCCTTAATTATCTTACCCATTATAGATAAAGTAATGTCACACTTTTGCTGTTAACGGACCTTAAGTTTCTTTCTTACAGACCACAGTATCTTTTCATGGAGAGCTGTACTTTGAGAATACATATGTCCAGGGCTGGAGACTTTTCACTGTAATATATAGTTACACCTGTGCTGTCACAAGGTTCCTTAGGAACGAATAAGAAGTCAAAAGAACTAAGAAAGTGCCGGCCGGGCGTGGTGGCT... |
Task1_train_21732 | Assess the clinical impact of this variant on gene MAN2C1, NEIL1 (mannosidase alpha class 2C member 1| nei like DNA glycosylase 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital disorder of deglycosylation 2 | GAGGAGGAAGGGGCGACAGGCAGCCTCTGGTGGGCTTTCCTCATCACTCCCAGAAACTGGCTCTACAGGAGAGGATGGGATGGTGGCCTAGGAGCGCGTGTACAAAGGTGGGAGAAAGGCTGCCATGGCAGCCCCTGGAGTCTTAGCTGACCATCTTGCCTGTTCTTCCCCCAGGCCACTGCAGACCCCGGAAGGTCAAGGCTGACATCCCATCCTTGGAACCAGAGGGGACCTCAGCCTCTTAGCAGGAGGCTCTCCTTGCTTGCACTCACCCTTTCTTATTGTCTTGCCCTGCATCTGGGGGTCTGAATTTTTGGGAG... | GAGGAGGAAGGGGCGACAGGCAGCCTCTGGTGGGCTTTCCTCATCACTCCCAGAAACTGGCTCTACAGGAGAGGATGGGATGGTGGCCTAGGAGCGCGTGTACAAAGGTGGGAGAAAGGCTGCCATGGCAGCCCCTGGAGTCTTAGCTGACCATCTTGCCTGTTCTTCCCCCAGGCCACTGCAGACCCCGGAAGGTCAAGGCTGACATCCCATCCTTGGAACCAGAGGGGACCTCAGCCTCTTAGCAGGAGGCTCTCCTTGCTTGCACTCACCCTTTCTTATTGTCTTGCCCTGCATCTGGGGGTCTGAATTTTTGGGAG... |
Task1_train_21733 | The gene MAN2C1 (mannosidase alpha class 2C member 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital disorder of deglycosylation 2 | GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATA... | GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATA... |
Task1_train_21734 | This sequence variant lies in MAN2C1 (mannosidase alpha class 2C member 1) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not specified | GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATA... | GGGCAGGAAGCCAGGTTGCTGGGGTTTGGGCTCAGGGAAGGGCAGAGAGGTGTCTAGGGCTGCAGGAAGGCCCCACCGTCCCCAGCACTCACCCTTGTGCGGCATCAGTGCATAGGTGAACTCGTGGCGCCCCGTGTCAGCAGTAGCGTCCGGGGCTTTAGGCGCCCGCAAGCTGGGGTGAGGAGGGCGCGTAGGGGCCACGCTGAAGCTGTTGGAGTTGTGGTCGGGAAGACCCATTTCTCCATGCCAGCTCCCAGGCCTGGTGGGTACCCCACTTACAGCGAGAGGCTGAGGATGCTGCCTCGCACTGACGCGCCATA... |
Task1_train_21735 | A change on Chromosome 15 affects gene ETFA (electron transfer flavoprotein subunit alpha). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATGATCTCAATCTCCTGACCTCGTGATCCAACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCGCCCAGCCTGAATTTCTTGTAGACATATTTTTGGTTAAGAAGGTTGTGGGTCTGCTGATCTTTTATGAAATCAGACCTACAGATGTCTACTTATGTAAAATTGAAAGATTTCCACAAATAATGTGTGTGCCAGTCAGGCATGGTGGCACATACCTGCAGTCCCAGCCACTCAAGAGGCTGAAGTGGCAGGA... | GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGATGATCTCAATCTCCTGACCTCGTGATCCAACTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACTGCGCCCAGCCTGAATTTCTTGTAGACATATTTTTGGTTAAGAAGGTTGTGGGTCTGCTGATCTTTTATGAAATCAGACCTACAGATGTCTACTTATGTAAAATTGAAAGATTTCCACAAATAATGTGTGTGCCAGTCAGGCATGGTGGCACATACCTGCAGTCCCAGCCACTCAAGAGGCTGAAGTGGCAGGA... |
Task1_train_21736 | Here is a variant affecting ETFA (electron transfer flavoprotein subunit alpha) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Multiple acyl-CoA dehydrogenase deficiency | AGGCTGGAGTGCAGCAGTGTAATCTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGT... | AGGCTGGAGTGCAGCAGTGTAATCTCAGCTCATTGCAGCCTCAACCTTCCAGGCTCAAGCAATTCTCCCACTTCAGCCTCCCAAGTAGCTGGGACCACAGGCATGCACCACCACACTCAGCTAATTTTTTTTTTTCATTTTTTTGTAGAGATGAGATCTCACTGTATTGCCCAGGCTGGGCTACAACTCCTGGGCTCAGACAATCCTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCGCACCCTGCCCAAGTCATACTCTTAAGTAAAAGCTACTATTCACAAAACAATTCATGCCATATTATCCCATTTTAGAAGT... |
Task1_train_21737 | This alteration in PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; PSTPIP1-related disorder | GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGG... | GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGG... |
Task1_train_21738 | The variant affects gene PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGG... | GCCCAGAGAGGGAAGTGGCCTGAGGGTGAGCTGGGGGCAGTCAGTCAGGGGCCAGAGCCCAAGTCCCAGCCAGGGGGCTCAGCAGTAGTTGCACCTCTCCTGTGGGTTGTGGTCTCACTCTTCACAGGCATCCTCCTGGGCTCGGTTCCTGTCTTCGTTCTCTTTCCATGGAGCTAGCCTGTGGTCCTCTGTGGGCGGAGGTTGCTTGTGGATGATGGCATCTGCCCATAGTTGGCTCCTGAATGTTCCCCCCAGGGTGGCCGGGGAAGCTTGACAGTCACTTCAGGTCTGCTGGGGTGGGCCCTGGCTCCTGGGGCAGG... |
Task1_train_21739 | Chromosome 15 houses a mutation in gene PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | TGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACC... | TGGACTTGCATATATGAGGCTCCACTCCAGCCCTCAGGCAGCTCAGAGCACAGTTGGGGAGCAGCAGCAGCACCAGCGTGGGTGGCCCTGACGGGCATTCAGATGAGGCCCCGCCATCTGCTAGGGCAGGTCCCATGGGGGAGGCGGGGCTCCCAGTGGGAGGAGGCATCCAGGATGGGACCTGCTGGAGTACAGGGGTGGAGGAGCTCGTGTCAGGGCCCTCCCTGAGGCTGCCTGCGCTTTCAGAGCGGGTATACAGGCAGAGCATTGCGCAGCTGGAGAAGGTCCGGGCTGAGTGGGAGCAGGAGCACCGGACCACC... |
Task1_train_21740 | A mutation found in PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Behcet disease | CTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCAC... | CTAAACCCACAGCCTCTCTGGGTGCTGCCGATGGACAGGGCCTGGGGAACAGGGCTCAGGACTCCCGTCCGAGGTCCCTCTCACTACCCTTCTGCCTCGGTGTGGTGCAGCCTGAAGGGAGGCTGGGGCAGGGACCCCCTGGGCATCTCCACCTCCCTCCCTGCAGCCTCAGGGCTGGCCCGGAGTCGGGATGGGGACCCCAGGGCACTCTCTCCTTTGGACTGGGCTTCCAGCAGAGAGGGCTGGCCTGGTCAGCTCCGGCTGAGCTGTGAATGGGGCCCAGCCTGGCCGGGCCCTGCAGCCGCCTCCTCACTGCTCAC... |
Task1_train_21741 | A change on Chromosome 15 affects gene LINGO1 (leucine rich repeat and Ig domain containing 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Intellectual disability, autosomal recessive 64 | GTGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCA... | GTGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCA... |
Task1_train_21742 | Consider a variant on Chromosome 15 in gene LINGO1 (leucine rich repeat and Ig domain containing 1). Determine its clinical classification and disease relevance. | Pathogenic; Intellectual disability, autosomal recessive 64 | TGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAG... | TGAGATAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAG... |
Task1_train_21743 | A sequence alteration has been identified in LINGO1 (leucine rich repeat and Ig domain containing 1) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Intellectual disability, autosomal recessive 64 | TAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACA... | TAATAATGACCATAATGAGAACAGTCACCCACACGTGTGCACAGCGCTTTACAGGTTACAAAGTGTTTCACATACATCATCTCATCAATTCCTCACAACAGCCCTGTGAGGTAGGCAGGGCAGGGGGTAATGTTCCCATTTGTACAGATGTGGAGACTGAGGCCCAGAGAGGCCAGTGACCTGCTTGAGGCCACACAGCAAGTGAGCAGCAGAGCTGGGACCAGAGGCTGGGGTGGGCCCCACCTCCAGCCCCTGGCTCTCTCCACTGACTGTGCTGTCCCCCAGGAGGACCCCAGCCTCTGTCCAGAGTCTCAGCCACA... |
Task1_train_21744 | The variant affects gene CIB2 (calcium and integrin binding family member 2), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 48 | CTGAGCACTTACCGAATGTGTGGCAGGCTGTGTGCTAGCACAGACACCTTTCTAACTGGCCAAGTGACATCATGCAATTGCTACCGAGAACAAAACCAGTTCCCCTCCTTGCGGCCCCATCAGCGAAAAGGAGGGGAGGGCCAGAAGCCACATCCTCTGCTTCAGGCCTCTTCGCTCCAGCTGTACCCTCAGGTCAGGCTGGCTCTTCCTGGAACTCTGTCCCTCAGGAAACTTCCTGTTTTGTGTGTCACTTCCCTTCCTATCCACATGTCCCCTTCTCTATAAGGGTGGACAGCTGGCTTGCTACCCCACTCCCAACA... | CTGAGCACTTACCGAATGTGTGGCAGGCTGTGTGCTAGCACAGACACCTTTCTAACTGGCCAAGTGACATCATGCAATTGCTACCGAGAACAAAACCAGTTCCCCTCCTTGCGGCCCCATCAGCGAAAAGGAGGGGAGGGCCAGAAGCCACATCCTCTGCTTCAGGCCTCTTCGCTCCAGCTGTACCCTCAGGTCAGGCTGGCTCTTCCTGGAACTCTGTCCCTCAGGAAACTTCCTGTTTTGTGTGTCACTTCCCTTCCTATCCACATGTCCCCTTCTCTATAAGGGTGGACAGCTGGCTTGCTACCCCACTCCCAACA... |
Task1_train_21745 | This mutation is located in gene CIB2 (calcium and integrin binding family member 2) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Retinal dystrophy | ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCG... | ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCG... |
Task1_train_21746 | A mutation on Chromosome 15 affecting CIB2 (calcium and integrin binding family member 2) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hearing impairment | ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCG... | ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCG... |
Task1_train_21747 | Chromosome 15 houses a mutation in gene CIB2 (calcium and integrin binding family member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 48 | ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCG... | ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCG... |
Task1_train_21748 | The gene CIB2 (calcium and integrin binding family member 2), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Usher syndrome type 1J | ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCG... | ATCAGCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCG... |
Task1_train_21749 | A mutation found in CIB2 (calcium and integrin binding family member 2) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Usher syndrome type 1 | GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGC... | GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGC... |
Task1_train_21750 | Consider this mutation in CIB2 (calcium and integrin binding family member 2) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Usher syndrome type 1J | GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGC... | GCTTCACTGTTCTTGGTGTCCCTAGGGCAGGAGCCAGTAGTAACCAGACAGCCTAAGGGCCCCACATGTTCCCCCACCGCATATTCAGGCCCCCTCCTCTAGCCCTGGTTACCATAGATCTTGAAGGCATAGTTTGCCTTGAGCTCTCGGGGAGCCGACTCGCAGAGCACGGAAAACATGTCCACAAAGTCGTTGAAAGTGAGGTTCCCCTCACCATCCTCGGAAAACGCCGCCACGATCCTTTCTTTGAAGGGATTCTCCTGAAGAAAACACACACAGCAATCACTGTGGGTGCAGGATAAGCAGGAGGGCCCCGGAGC... |
Task1_train_21751 | A variant was discovered on Chromosome 15, affecting IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinitis pigmentosa 90 | TTTTACAGATTTCCGCTACAGGGGTTACTTAGTTTTGAAAATTTATGCATTTAAACTGAATAAGGCCTGGCCATCTGTGAAGGTAACGCCATTCTTTTATGAAGTAACTACTCATAGTAAGATGTTTTATTCATTTGGGACATTTTTTTCCCCCAGTAAAAAACATTAAAGTATTACTGGATGATGCCAAATAACAGTATCTCTATTTAATCTTCAACTATATATATCTTTTGCTTAATTTTTACATTTGTATATTTATTTATTTACTTAATTTTTTTGTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGG... | TTTTACAGATTTCCGCTACAGGGGTTACTTAGTTTTGAAAATTTATGCATTTAAACTGAATAAGGCCTGGCCATCTGTGAAGGTAACGCCATTCTTTTATGAAGTAACTACTCATAGTAAGATGTTTTATTCATTTGGGACATTTTTTTCCCCCAGTAAAAAACATTAAAGTATTACTGGATGATGCCAAATAACAGTATCTCTATTTAATCTTCAACTATATATATCTTTTGCTTAATTTTTACATTTGTATATTTATTTATTTACTTAATTTTTTTGTGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGG... |
Task1_train_21752 | Gene IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Retinitis pigmentosa 90 | TCTCAGGTAGAGAGTGAACTAGAGGCAGAACACATTTCACAAGGTAGCCGAGGTGGGTTAGTAGGTCACACGTGAGACCAGAATTCCTTCTAGTGTCATCTGGGTTTTCTTCTGTATAACAGGCCCTTTGAAGACCCCAATAGCAGCCGGTCACCCATCTATGAATTTACTGCTGCGCAAAACATTTGACCTTTACGCGAATGTCCGACCATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCAC... | TCTCAGGTAGAGAGTGAACTAGAGGCAGAACACATTTCACAAGGTAGCCGAGGTGGGTTAGTAGGTCACACGTGAGACCAGAATTCCTTCTAGTGTCATCTGGGTTTTCTTCTGTATAACAGGCCCTTTGAAGACCCCAATAGCAGCCGGTCACCCATCTATGAATTTACTGCTGCGCAAAACATTTGACCTTTACGCGAATGTCCGACCATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCAC... |
Task1_train_21753 | Here is a genetic alteration in IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinitis pigmentosa 90 | ATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTG... | ATGTGTCTCTATCGAAGGCTATAAAACCCCTTACACCGATGTAAATATTGTGACCATTCGAGAGAACACAGAAGGAGAATACAGTGGAATTGAGCATGTGGTATGTTCACTCCAGATTCTTTTTTATTCCTGCTTGGACTGCTTTCTGTGCATCTGGGACCCCAGAGACAGATCTGCTTTATCTCTGTGAGGAGTTGTGGGTGTTTGTCTTGGTGCTGGGTGTCTGGCTGACAGTACTCAAACAAATGTAAGGCATGGTGGTTCGCGTCACAAGCTTGGGAATATGCCCTCTGAATTTTGAATCCCCCACTTCACAGGTG... |
Task1_train_21754 | Mutation context: Chromosome 15, Gene IDH3A (isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACAC... | CACCCTGATTCCACATTCTCCAGATGTCAGCATTTTATCACATTTACTTTATTACTCCTTCCCACTTTCCCTCCCTTCCTCTTCCTCCTCTCCTTTGTCTGTGCTTCTCTCTCTCTCTCTCTCCCCCCCCGACACACACAGACATAAGATGTTGGCCAAATGGTGATTTTCATTTTTTTTTTTTTTTTGAGGCAGAGTCTTGCTCTGTCGCCTAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCTACCTCCCAGGTTCGAGTGATTCTCCTGCCTCCCCTGAGTAGTTGGTATTATTACAGGTGCACAC... |
Task1_train_21755 | Gene MTHFS, ST20-MTHFS (methenyltetrahydrofolate synthetase| ST20-MTHFS readthrough), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | ACAGTCTCCCATTTGCCTCCTTTCCCCTCATCTTCACTGCCCATGCTCTGGTTTGCATATTTTTCATCTTTCACTTGAATTGGCACAACAGCCCCTTACTGGTCTCCATATTTTTTTTCTTTCTTCCTTCCTCAACCCATTATCCAAATGCTGCCATTATACTCTTCCTAAAGGACATAACAAACAATAGGTAAAGCTCTGAATACATCCCTTTACACACTTCTTTAACTCTCACAATCGACCTACAAGAGTGATATTATCCATTTTATAGACAAGGAACCAAAGGTTCTGAGAGATTATGAGACCTGTCCAAGGATATA... | ACAGTCTCCCATTTGCCTCCTTTCCCCTCATCTTCACTGCCCATGCTCTGGTTTGCATATTTTTCATCTTTCACTTGAATTGGCACAACAGCCCCTTACTGGTCTCCATATTTTTTTTCTTTCTTCCTTCCTCAACCCATTATCCAAATGCTGCCATTATACTCTTCCTAAAGGACATAACAAACAATAGGTAAAGCTCTGAATACATCCCTTTACACACTTCTTTAACTCTCACAATCGACCTACAAGAGTGATATTATCCATTTTATAGACAAGGAACCAAAGGTTCTGAGAGATTATGAGACCTGTCCAAGGATATA... |
Task1_train_21756 | A mutation in FAH (fumarylacetoacetate hydrolase), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Tyrosinemia type I | CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGT... | CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGT... |
Task1_train_21757 | The following genetic variant occurs in FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Tyrosinemia | CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGT... | CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGT... |
Task1_train_21758 | The gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; See cases | CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGT... | CTCGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGT... |
Task1_train_21759 | This variant impacts the gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Tyrosinemia type I | CGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCA... | CGTGGTTTTAATGGGAAGGGGCAGGGCAACTACAGAACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCA... |
Task1_train_21760 | Consider this mutation in FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Tyrosinemia type I | AACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGG... | AACGTGGAAATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGG... |
Task1_train_21761 | The variant affects gene FAH (fumarylacetoacetate hydrolase), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Tyrosinemia type I | ATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGG... | ATAATTCATTGCGTTGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGG... |
Task1_train_21762 | A variant found in Chromosome 15 affects FAH (fumarylacetoacetate hydrolase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Tyrosinemia type I | TGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCG... | TGCAGCTGAGGACTAGCTTGAATTAGGCAGGTATCAAGTGCTCCCTGGAATGCCTCTTTATAAGGCCACCAAGTTGGGATACTCTCCTCTTCTTTTCCTCTTTCAGGAACCTACCAGAACAAATCAGACCACCTTCATTCCCTCCCCAGGGCTGACTTAAAAGAACTGAAGCCAGTCCTTGGCAGAGCCACTCAGGGCAGGAGATGAGAGCCAAGAGGCTGTGCCCAGATTACACTCCTTACTGGGTGATGATCACTGGTCACGCCTGGTGGACAGGCACCAGAGTGATCTCAGGGGCTAGGAAGGGGGGCTCAACAGCG... |
Task1_train_21763 | This variant affects the gene FAH (fumarylacetoacetate hydrolase) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Tyrosinemia type I | CTCCTACAGGAAGCTGGTGGAGCAGAGTGTTCCCTGACTCCTCCAAGGAAAGGGAGACTCCCTTTTGCGGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCAT... | CTCCTACAGGAAGCTGGTGGAGCAGAGTGTTCCCTGACTCCTCCAAGGAAAGGGAGACTCCCTTTTGCGGTCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCAT... |
Task1_train_21764 | Consider a variant on Chromosome 15 in gene FAH (fumarylacetoacetate hydrolase). Determine its clinical classification and disease relevance. | Pathogenic; Tyrosinemia type II | TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTC... | TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTC... |
Task1_train_21765 | The variant affects gene FAH (fumarylacetoacetate hydrolase), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Tyrosinemia type I | TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTC... | TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTC... |
Task1_train_21766 | This variant impacts the gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; T-substance anomaly | TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTC... | TCTGCTAAGTAATGGGTGCCTTCCCAGGCACTGGCGTTACCGCTTGACCAAGGAGCGCTCAAGCGGCCCTTATGCGGGTGTGACAGGGCTCACCTCTTGCCTTCTAGGTCACTTCTCAGAATGTCCCTTCAGTACCTGACCCTATACCCACCGGTTATTCCTAGGTTATATTGTACTACAATAAAGAGTAATATTAAAAACTAATGATTAATAATGTTTATACTAATAATCGATAATTGTCCATGATCATCTGTATATCTAATTTGTATTACAACTGTATAGCAGTATAGCTACAGTTTATGCCTTCAGTCTCTTGCCTC... |
Task1_train_21767 | Consider this mutation in FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Tyrosinemia type I | TGTGAAAGGTTCAGCATAGCTCTGGCCCCAGGCCAGCCAGAAGGTGCCCACTGGAGATTGTGGATAATCTTGGGGATGGTCTGGGCTGAGCCCGTGGGTGGGACCGCGCTTTGCTGCCTACTTGACTTTGAAGCCCCTGGTTCTGTGTTTCAGTGCATTCATCTCCCAGGCTTCTGCCACGATGCACCTTCCAGCCACCATAGGTGAGTGCAGTCTCTTCACCAAGATAAGAACGGAGCAGCTTCGTGGGCCAAGAGGGCTGGCCAGGTGCTTTGGTTCTGCATCTGTGTGGAGGGTCCCTGCTGGTGGGGGGAGATGGA... | TGTGAAAGGTTCAGCATAGCTCTGGCCCCAGGCCAGCCAGAAGGTGCCCACTGGAGATTGTGGATAATCTTGGGGATGGTCTGGGCTGAGCCCGTGGGTGGGACCGCGCTTTGCTGCCTACTTGACTTTGAAGCCCCTGGTTCTGTGTTTCAGTGCATTCATCTCCCAGGCTTCTGCCACGATGCACCTTCCAGCCACCATAGGTGAGTGCAGTCTCTTCACCAAGATAAGAACGGAGCAGCTTCGTGGGCCAAGAGGGCTGGCCAGGTGCTTTGGTTCTGCATCTGTGTGGAGGGTCCCTGCTGGTGGGGGGAGATGGA... |
Task1_train_21768 | A genomic change on Chromosome 15 affects FAH (fumarylacetoacetate hydrolase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Tyrosinemia type I | GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGC... | GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGC... |
Task1_train_21769 | This mutation is located in gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; FAH-related disorder | GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGC... | GGAGTCAGTCTCCGTGTGGGAAATGCAGACAGGCAGATGGAGGGGGCTTTCCCATAGTCAGCACCTACAGTTTTAGGCGTTGCCTCAGGAAGCTCTGAGTGCCTCATCACTGATGGTGTAGAAGAAGCTGTCATGGGGCCACCGAGTCAGGCTGAGACAGTGGGAAGCCCTGGTTGGTGGAGGCAGGCTGAAAGGCCCGTCTGCTTTTCTGGAGCTCCCTGTCTCTCCTGGGCTTCCCTGTGATTTCTCTGGATTCAGTCCAGAGGAGGGAAATGAGTGGGCACTGCCGAATAGCCCGTGGATAGCAGGGCATTCCCTGC... |
Task1_train_21770 | Gene FAH (fumarylacetoacetate hydrolase) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Tyrosinemia type I | TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA... | TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA... |
Task1_train_21771 | A variant on Chromosome 15 in gene FAH (fumarylacetoacetate hydrolase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not specified | TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA... | TCTCTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA... |
Task1_train_21772 | This alteration in FAH (fumarylacetoacetate hydrolase) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Tyrosinemia type I | CTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG... | CTGGTACTATTTGCTGCATGAAGGAGGCAGTCTTTTGGTTTTTCATTTTTCATTAAAAAAATTTATTTTTTATTTTTTATTTTTATTTTTAAATTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGCGTGCTGCACCCATTAAGTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCTCTTCCCCCCACCCCACAACAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG... |
Task1_train_21773 | A variant was discovered in gene FAH (fumarylacetoacetate hydrolase), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Tyrosinemia type I | CAGTGAGCCATGATCACACCACTGCATTCCAGCATGCGTGACAGAGCAAGACCCTATTTCAAAAAATAAAAATTAAAAAAAGTGCATATTATACATGTACAGCTTGAAGAATTTTCCTAAAATGAACATCCCTGTGCAACCAGCACCCAGATCAGAAATGGAAAATTTCCAGCACCTCAGCAGCCCCGTGGGGCCCTCCAGGTCACTTCATCACTCCCTCCAGCAAAGGTCACTCCTCTCCTGACCTCTGCTACCATGTATTATTTTTTTTCTGTTTTTCAGTTTTATAGAAATGGCATCATAAAGTAGCATGTATTCTT... | CAGTGAGCCATGATCACACCACTGCATTCCAGCATGCGTGACAGAGCAAGACCCTATTTCAAAAAATAAAAATTAAAAAAAGTGCATATTATACATGTACAGCTTGAAGAATTTTCCTAAAATGAACATCCCTGTGCAACCAGCACCCAGATCAGAAATGGAAAATTTCCAGCACCTCAGCAGCCCCGTGGGGCCCTCCAGGTCACTTCATCACTCCCTCCAGCAAAGGTCACTCCTCTCCTGACCTCTGCTACCATGTATTATTTTTTTTCTGTTTTTCAGTTTTATAGAAATGGCATCATAAAGTAGCATGTATTCTT... |
Task1_train_21774 | Here’s a variant in FAH (fumarylacetoacetate hydrolase) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Tyrosinemia type I | ACTCAGCCTAGGGGTACTTCCAAACAGTTTTTTGAAGTGGTTATACCAGTATATACTCCCACTAGCAGCATGTAAGCATTTTGCCTGCTCCACATCCTCGTCAGCTCTGGTGGTGTTTGCCTTTTCGTTCAAACCGTGCCTGGGATTGTGACTTCAGTTTGCATTTCCCTAATGACTAATGCAGCTGGGCATGTTAGTCATATGTTTATGGTTCATTTGTTTCTTGGCCTTTTGAATATCCTCTGAATCATTGAACTATTTCTAGTTTCCCTAATTTCCCTTCTAATTTAATATTATTCTGGGCTCCTTAGGGCTAGTAA... | ACTCAGCCTAGGGGTACTTCCAAACAGTTTTTTGAAGTGGTTATACCAGTATATACTCCCACTAGCAGCATGTAAGCATTTTGCCTGCTCCACATCCTCGTCAGCTCTGGTGGTGTTTGCCTTTTCGTTCAAACCGTGCCTGGGATTGTGACTTCAGTTTGCATTTCCCTAATGACTAATGCAGCTGGGCATGTTAGTCATATGTTTATGGTTCATTTGTTTCTTGGCCTTTTGAATATCCTCTGAATCATTGAACTATTTCTAGTTTCCCTAATTTCCCTTCTAATTTAATATTATTCTGGGCTCCTTAGGGCTAGTAA... |
Task1_train_21775 | Assess the clinical impact of this variant on gene FAH (fumarylacetoacetate hydrolase), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Tyrosinemia type I | GGATGTGTTCTCGCAGGCATTTGCACGGATGGCTCTGCACTGCTGGACACATGCATTTCTCACTCTCCTTCAGATCTTTGATTTGTTGATAGTTATGATTTGTTGTGGATTCTTTCTTGGTATCTGACATTATTTGGAAACAATATCTGAGCAAAAGTCTTTCGTTTCTTGCCCTGCGTCTCTCAGTGGTGGCGTCTTTCACCTGGTGTTCCTGTGTCTCTGTTTATTCCAGTTTCTCTCCCCAGCATTATTGCTTGCCTTGCCTGGCACAGAATTCCTGCGCAAGGCTGACCAGGGGTCCCAGGGTGTAGAAGCAGTGA... | GGATGTGTTCTCGCAGGCATTTGCACGGATGGCTCTGCACTGCTGGACACATGCATTTCTCACTCTCCTTCAGATCTTTGATTTGTTGATAGTTATGATTTGTTGTGGATTCTTTCTTGGTATCTGACATTATTTGGAAACAATATCTGAGCAAAAGTCTTTCGTTTCTTGCCCTGCGTCTCTCAGTGGTGGCGTCTTTCACCTGGTGTTCCTGTGTCTCTGTTTATTCCAGTTTCTCTCCCCAGCATTATTGCTTGCCTTGCCTGGCACAGAATTCCTGCGCAAGGCTGACCAGGGGTCCCAGGGTGTAGAAGCAGTGA... |
Task1_train_21776 | Consider a variant on Chromosome 15 in gene EFL1 (elongation factor like GTPase 1). Determine its clinical classification and disease relevance. | Pathogenic; Shwachman syndrome | TCTGGGAAAAGGCATTATGTTGGTGTTGCCTATGCCTGTCCCCTGAGCAGAAGGATAGCTGCCTCTGGACCTCAATACAAATAATTCTCCAGGAGTGAGAGCCGTGGTTTTGTGGCTTCCTCAACCTAGCCTTCCTCACTGTCTCTGAAGCCTATCTATAAATGAGTGTACAAAGCCAGCCCCTCTGTAAGAACAGGAACACTCTCACTTCTACTTGTGGACTGACAACATTTTGCTTGGCTTCTACTGAATTCAACAAACAGAGGCTAGGGTTTGGACATGGCATTGGGCACAGTACAAACGTAGTCTTACTATGCTGT... | TCTGGGAAAAGGCATTATGTTGGTGTTGCCTATGCCTGTCCCCTGAGCAGAAGGATAGCTGCCTCTGGACCTCAATACAAATAATTCTCCAGGAGTGAGAGCCGTGGTTTTGTGGCTTCCTCAACCTAGCCTTCCTCACTGTCTCTGAAGCCTATCTATAAATGAGTGTACAAAGCCAGCCCCTCTGTAAGAACAGGAACACTCTCACTTCTACTTGTGGACTGACAACATTTTGCTTGGCTTCTACTGAATTCAACAAACAGAGGCTAGGGTTTGGACATGGCATTGGGCACAGTACAAACGTAGTCTTACTATGCTGT... |
Task1_train_21777 | A variant was discovered on Chromosome 15, affecting EFL1 (elongation factor like GTPase 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Shwachman-Diamond syndrome 2 | AATGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATA... | AATGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATA... |
Task1_train_21778 | A mutation in EFL1 (elongation factor like GTPase 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Shwachman syndrome | TGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATAGG... | TGGTGGTACAGATGATTGGAAACTAGCAGGTGACAGACATTTTGCTCAATATAGAAAAAAACACCATTAAATCACGAAGCTGGCTGTGCACTGGCCATCAATAGAAGTATTCAAATAGTGGTGGTATAAGCATTTGTCGGGGTAGGAGAGGCTGGAGAAAAGCTCTTAGGTCTTCTTCAAAGATTTGAGGGATTAAGATTTGATTTTAACTCTTACTTCCGCCTTAAGAAAGTTCTCAATGAAAATGAAAAATAGCATCTGAGAATAGTCTAGATTGGTGTTTCCCAAACAAATCTACAAATTCCATGGCTGTTAATAGG... |
Task1_train_21779 | A mutation in EFL1 (elongation factor like GTPase 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Shwachman syndrome | TGCCTGCTTCCCAGTGTTCACACCTTTGTTTAGAAATCTCCTTCTCGAGTGTGAGTGGGACCTGTGACTTGCTTCTTCTAACAAACGGAATATGGCAAAAGTGATGAGATGTCACACTGTGATTCTATACCATCATACAGGACTCTGTCTTGCTAGGAGATTCCTTCTACTCTCTTATATGGCTTGATGAAGAGGGCCTCCAAGTTGGGAAGGTCCATATGACAAGAAACTGTAGGTGGCCTCTAGGAGCTGAGGGCAGCCAAAGGCCAGAAAAAATCTGGGACTCTTAGTACTGCAGGTGCAAATATATGAATTCTATC... | TGCCTGCTTCCCAGTGTTCACACCTTTGTTTAGAAATCTCCTTCTCGAGTGTGAGTGGGACCTGTGACTTGCTTCTTCTAACAAACGGAATATGGCAAAAGTGATGAGATGTCACACTGTGATTCTATACCATCATACAGGACTCTGTCTTGCTAGGAGATTCCTTCTACTCTCTTATATGGCTTGATGAAGAGGGCCTCCAAGTTGGGAAGGTCCATATGACAAGAAACTGTAGGTGGCCTCTAGGAGCTGAGGGCAGCCAAAGGCCAGAAAAAATCTGGGACTCTTAGTACTGCAGGTGCAAATATATGAATTCTATC... |
Task1_train_21780 | Gene EFL1 (elongation factor like GTPase 1), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Shwachman syndrome | TTCGAATATATTTATAGTTACTTTTATTAAGCAGACTACATACAACTAAAGTCTATGAGATTTTATGTGATATAAACAGGTGATTCTGTGTAAAGAATGTCAGGGGTATGCATAATTACTACAACTGGGTTGGAGTAAGCAAAGGAGGGTTTTTTTCCTTCAAGACAAGTCTTTATTGCACTTTAGGAACTTCAGCAAAGCTATGGAATCTCTGTATTGTTCAAACCAGAGACCAATGAGTAGGAGAACTGAAGATATTTAACACTGCTATCTGTCTGCAATGTAAATATGTATTAGCATATAATCCTAGAGCATCACTT... | TTCGAATATATTTATAGTTACTTTTATTAAGCAGACTACATACAACTAAAGTCTATGAGATTTTATGTGATATAAACAGGTGATTCTGTGTAAAGAATGTCAGGGGTATGCATAATTACTACAACTGGGTTGGAGTAAGCAAAGGAGGGTTTTTTTCCTTCAAGACAAGTCTTTATTGCACTTTAGGAACTTCAGCAAAGCTATGGAATCTCTGTATTGTTCAAACCAGAGACCAATGAGTAGGAGAACTGAAGATATTTAACACTGCTATCTGTCTGCAATGTAAATATGTATTAGCATATAATCCTAGAGCATCACTT... |
Task1_train_21781 | Gene RPS17 (ribosomal protein S17), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Diamond-Blackfan anemia | GAAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAAC... | GAAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAAC... |
Task1_train_21782 | This mutation is located in gene RPS17 (ribosomal protein S17) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Diamond-Blackfan anemia | AAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAACT... | AAACGAGGTAGGGTCAAAATACCAATCAATGAGATTATCACTCACCTCTCCTCCTCCTCTCCCCAGGTTCTTAAATATGGGGAAGAGGAGCTGCACAAGGATAGCATTCCTCTCACAAGGTGAGCAGTCTCTTACAGTATTACAGACCCCGATGACCTGTTCTTCTGGCCTTACCTTCCCATGCCCTCATTCAGTATTCAGAACACTTGAAGTCTGTGTTTACACCAAAGAATACTATATTAGGGGCAAACAATCGAGCCACGACAGCAGTCATCAAATCAACATTAAGGGCTCTCATGAAATATGGAATAGACTTAACT... |
Task1_train_21783 | The variant affects gene HOMER2 (homer scaffold protein 2), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal dominant nonsyndromic hearing loss 68 | TTTAAGCCAGCAGGGTAGAAAAATCAAGCAACCTCATGGTACAGTGGCTGCCGAAAAGGGAAGCAATGACATTTCGAATATTATAAATCAAGGTGACCTTCCCCTGGGAATGCACGTGGAAGGGGCCTGGCCTGTGGGCCTCTTCCCCAAGGCTGAATGGCAAATCCCTACACCGCATCTTTCCCTTTCCAAGGCTGACCCCTCAAAACAGTTACCTGTGTGGAACAGGGGTGCAAGGGCTTGGCACTCTCACACTGCCATTGAATGCTGGGGGCCAAAATGTGTGTGCAGAGTGGACAGCAGGCGTGGACCCCACATGC... | TTTAAGCCAGCAGGGTAGAAAAATCAAGCAACCTCATGGTACAGTGGCTGCCGAAAAGGGAAGCAATGACATTTCGAATATTATAAATCAAGGTGACCTTCCCCTGGGAATGCACGTGGAAGGGGCCTGGCCTGTGGGCCTCTTCCCCAAGGCTGAATGGCAAATCCCTACACCGCATCTTTCCCTTTCCAAGGCTGACCCCTCAAAACAGTTACCTGTGTGGAACAGGGGTGCAAGGGCTTGGCACTCTCACACTGCCATTGAATGCTGGGGGCCAAAATGTGTGTGCAGAGTGGACAGCAGGCGTGGACCCCACATGC... |
Task1_train_21784 | The gene WDR73 (WD repeat domain 73) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Galloway-Mowat syndrome 1 | TTTATTTTTTTTGAGATGGAGTCTCACCCTGTCACCCAGGCTGGAATGCAGTGGCACAATCTCGGTTCACTGCAGCCTCTACCTCTCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGTGGGGATTACAGGTGTGCCACCACCATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTCTATCTTTAAATTCCTATCTGA... | TTTATTTTTTTTGAGATGGAGTCTCACCCTGTCACCCAGGCTGGAATGCAGTGGCACAATCTCGGTTCACTGCAGCCTCTACCTCTCAGGTTCAAGCAATTCTCCTGCCTCACCCTCCTGAGTAGTGGGGATTACAGGTGTGCCACCACCATGCCCGTCTCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCCCCCACAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTCTATCTTTAAATTCCTATCTGA... |
Task1_train_21785 | The gene AGBL1 (AGBL carboxypeptidase 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Corneal dystrophy, Fuchs endothelial, 8 | TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCT... | TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCT... |
Task1_train_21786 | Here is a genetic alteration in AGBL1 (AGBL carboxypeptidase 1) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Fuchs' endothelial dystrophy | TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCT... | TACCAGTATGGCATATACTGTGAGGTTTATTTTCCTGAATGACTCCTTCTTTTAACCTCTACAGAGCACCTGTTATGTGTCTGCTGGAGGCTGGGGTTGCAAATGTGTATGCGAGTGCTCCTGCCCCCGAGGGCCAGAGTCTTACTCTCATTCCCCTTCTCGCCTCCCCTTTGCCACCTGTGAGGTGGCTGACTGAGCAGGCAGGTGTGACCTTCACTTCCAATCAAGCCAGCCATTCTAGAATTGTATAAAAGTAACCTGGAAAAGGGGTTGGGGAAAGAATCAGACCTCGGAGCTTTAGAAAAGAGACTCAGATTTCT... |
Task1_train_21787 | A mutation on Chromosome 15 affecting ACAN (aggrecan) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Short stature and advanced bone age, with early-onset osteoarthritis | GTCTCGTGCATGTGGAAGGCACTGGGTCTACTGCTAATCCAGCATTGGACCAAATGAGCAAAACTTCCACTGACCCCAGGATGGGCTTGACCCCAGAAGGGAAGGTATGTCTTCCCCAGGCCCAGACAAGAGAGGACTCTGCTCTTGGCTGTGTATTTTAGAGGCCCCCACTGGCCATCCTCCAGCCTCAACCCTCTCCAAAGGAAGGGGAGTCAGCAGGGCCAATGTGTCTGCCCAAATCTGCACTTCCCCTTTAGAGCACATTCTGGGGTCCCAGGATGCCCAGAATTTCCCCTCCAAGTGGGCCCAGGCCACATCCA... | GTCTCGTGCATGTGGAAGGCACTGGGTCTACTGCTAATCCAGCATTGGACCAAATGAGCAAAACTTCCACTGACCCCAGGATGGGCTTGACCCCAGAAGGGAAGGTATGTCTTCCCCAGGCCCAGACAAGAGAGGACTCTGCTCTTGGCTGTGTATTTTAGAGGCCCCCACTGGCCATCCTCCAGCCTCAACCCTCTCCAAAGGAAGGGGAGTCAGCAGGGCCAATGTGTCTGCCCAAATCTGCACTTCCCCTTTAGAGCACATTCTGGGGTCCCAGGATGCCCAGAATTTCCCCTCCAAGTGGGCCCAGGCCACATCCA... |
Task1_train_21788 | A mutation on Chromosome 15 affecting ACAN (aggrecan) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Spondyloepimetaphyseal dysplasia, aggrecan type | TTTCTTCATTTCCAAGACACTTTACACAGTTCCATTAGAAAGCATTTGGACACGTTGCTGAGCTCTTGAGAGAAAAATTTTACTGTGGAAAGAATGGAGTTTAGATTCTACATTTGAGCTTAAAGTGGGGCAGAGTTAATAAACCCACACTTCATCTTTCTTCCTTCTTTCCTACAGGGATCCTTCCTACTTGGCCTCCCACTGGCGCAGCAACAGAGGAAAGTACAGAAGGCCCTTCTGCAACTGAAGTGCCCTCTGCCTCAGAGGAACCATCCCCCTCAGAGGTGCCATTCCCCTCAGAGGAGCCATCCCCCTCAGAG... | TTTCTTCATTTCCAAGACACTTTACACAGTTCCATTAGAAAGCATTTGGACACGTTGCTGAGCTCTTGAGAGAAAAATTTTACTGTGGAAAGAATGGAGTTTAGATTCTACATTTGAGCTTAAAGTGGGGCAGAGTTAATAAACCCACACTTCATCTTTCTTCCTTCTTTCCTACAGGGATCCTTCCTACTTGGCCTCCCACTGGCGCAGCAACAGAGGAAAGTACAGAAGGCCCTTCTGCAACTGAAGTGCCCTCTGCCTCAGAGGAACCATCCCCCTCAGAGGTGCCATTCCCCTCAGAGGAGCCATCCCCCTCAGAG... |
Task1_train_21789 | This alteration occurs within gene ACAN (aggrecan) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Spondyloepimetaphyseal dysplasia, aggrecan type | GCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTC... | GCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTC... |
Task1_train_21790 | This sequence variant lies in ACAN (aggrecan) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | TCCTACTCCCTTGCAGCCTCCCACCCTCCATCCTCACCCCAAGACCCCAAGAAATTGGTATATGGGGTCTTGGCTGGGGTGGAAGCAGAGACTACAAGGATTTTCTCCCCATGATACCACAACATTTGCCACAGGGTAGAAGAGTCTGGGACTTCCATGCCGACAACAGCTATTTGGTTCCAGACTGGAAAAGTGGGCTCTGCTGGAATGGAGGCAGGACCCTCACAGGGCTCTGTACCCTGATGGGGCAGAGAGATGGTGACAGAGCCACCCAGCTCGGCCCTGGGCCTGGGGGCCCAGCTAAGCAGGGCTGCATCTCC... | TCCTACTCCCTTGCAGCCTCCCACCCTCCATCCTCACCCCAAGACCCCAAGAAATTGGTATATGGGGTCTTGGCTGGGGTGGAAGCAGAGACTACAAGGATTTTCTCCCCATGATACCACAACATTTGCCACAGGGTAGAAGAGTCTGGGACTTCCATGCCGACAACAGCTATTTGGTTCCAGACTGGAAAAGTGGGCTCTGCTGGAATGGAGGCAGGACCCTCACAGGGCTCTGTACCCTGATGGGGCAGAGAGATGGTGACAGAGCCACCCAGCTCGGCCCTGGGCCTGGGGGCCCAGCTAAGCAGGGCTGCATCTCC... |
Task1_train_21791 | A variant was discovered on Chromosome 15, affecting ACAN (aggrecan). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | GGTTCTGCAGGAAGGAAACTGCCAGCTCCGCTCCATGCCCCAGCGCTACCAGCTTCCACTGCCTCCACACACTTCCCCACAGCTCCACTCCCTCTCTCCCTGGAGCCCCCCAGAGCCACAGAACCATGTTTTGCCTTAAATCTCAAGACCTCTCACCTTCCCACCTCTTTTGAACTGGACTGCTGACCTCTGCCGGCCCAGCAGAGCAGGCATCAAGAGGAGGAAAGCTTGGGAGAGGGTGAGGGGGGAGGGCGTGGCATCAGGGAAGGAAAGGGCCCCTGGCATTTTCCCGAGTGGAAGCATGTGCAGAGGCTCCCAGG... | GGTTCTGCAGGAAGGAAACTGCCAGCTCCGCTCCATGCCCCAGCGCTACCAGCTTCCACTGCCTCCACACACTTCCCCACAGCTCCACTCCCTCTCTCCCTGGAGCCCCCCAGAGCCACAGAACCATGTTTTGCCTTAAATCTCAAGACCTCTCACCTTCCCACCTCTTTTGAACTGGACTGCTGACCTCTGCCGGCCCAGCAGAGCAGGCATCAAGAGGAGGAAAGCTTGGGAGAGGGTGAGGGGGGAGGGCGTGGCATCAGGGAAGGAAAGGGCCCCTGGCATTTTCCCGAGTGGAAGCATGTGCAGAGGCTCCCAGG... |
Task1_train_21792 | A mutation on Chromosome 15 affecting RLBP1 (retinaldehyde binding protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinitis punctata albescens | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... |
Task1_train_21793 | Here is a mutation in RLBP1 (retinaldehyde binding protein 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Bothnia retinal dystrophy | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... |
Task1_train_21794 | A variant has been detected on Chromosome 15 in RLBP1 (retinaldehyde binding protein 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Retinal dystrophy | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... |
Task1_train_21795 | This variant lies on Chromosome 15 and affects the gene RLBP1 (retinaldehyde binding protein 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; RLBP1-related disorder | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... |
Task1_train_21796 | Given this context: Chromosome 15, gene RLBP1 (retinaldehyde binding protein 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Retinitis pigmentosa | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... |
Task1_train_21797 | This sequence change occurs on Chromosome 15, altering RLBP1 (retinaldehyde binding protein 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Newfoundland cone-rod dystrophy | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... |
Task1_train_21798 | Here is a mutation in RLBP1 (retinaldehyde binding protein 1) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Pigmentary retinal dystrophy | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... |
Task1_train_21799 | A variant on Chromosome 15 in gene RLBP1 (retinaldehyde binding protein 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Bothnia retinal dystrophy | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... | TCCTGACCACCCCACACACGTCAGACTGCACCTCAGCAAGGGGAGGAGGCCACCCCTGAATGAAGCCACTTCCAGGCCTCTTCCACCCTGGAATTCTGTGTGGAAAACTCCCAGCCTGCCTAGAGGCCACCAGGACTGCTGCGTTTGCCAAATCATTTGAACATATATCCTCTCTCTTTTATCTTCTTTTATTGCATTTTGGGGGCGAATAGGGGGATATTTTAACCCGGGCTCCTTGCCTGTTTTCACAGACTCTAAGTCGTAAAACTCTGTTACAAAGGAAATGACTGAGAAAATGAATTCGAGTCTTTGAAATACAA... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.