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_19900 | The gene GPHN, RDH12, ZFYVE26 (gephyrin| retinol dehydrogenase 12| zinc finger FYVE-type containing 26), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Leber congenital amaurosis 13 | CTGGCCAAGAGGCTCCAAGGTAAGTCTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTT... | CTGGCCAAGAGGCTCCAAGGTAAGTCTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTT... |
Task1_train_19901 | Chromosome 14 houses a mutation in gene GPHN, RDH12, ZFYVE26 (gephyrin| retinol dehydrogenase 12| zinc finger FYVE-type containing 26). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Leber congenital amaurosis 13 | AGGCTCCAAGGTAAGTCTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGA... | AGGCTCCAAGGTAAGTCTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGA... |
Task1_train_19902 | Gene GPHN, RDH12, ZFYVE26 (gephyrin| retinol dehydrogenase 12| zinc finger FYVE-type containing 26) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Leber congenital amaurosis | GGCTCCAAGGTAAGTCTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAG... | GGCTCCAAGGTAAGTCTGGAGAAAGAGGAATAGCAAAAATGGTCCTCAGACCAAATTAGAGGTCCACAGCAACTTGGGAAGTCAGGCTGTCAAACATGCACGTGTCAGTAATATCTCTGTGGACTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAG... |
Task1_train_19903 | This mutation is located in gene GPHN, RDH12, ZFYVE26 (gephyrin| retinol dehydrogenase 12| zinc finger FYVE-type containing 26) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | CTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCATCAGCCTCTTGAGTAGTTGGGATTACA... | CTAAGGAGAATGAAATTATGAATGGAATAAAAACAGAGTGCTTGCCCCCAGGGAGCTTAAAATCAAATAGGGGTTAAGAACCTCAAAAAGTTACCTTGTATTTGTGTCACATCTTATCTCTTATCTCATTTGATTTTCACAGTAGCTTTTTGCAACAGACAGAGGCTTTTTGTTTTTTTTGTTTTTTTTTTTTTGAGACTTGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCTTGGCTCACTGCGACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCATCAGCCTCTTGAGTAGTTGGGATTACA... |
Task1_train_19904 | This variant lies on Chromosome 14 and affects the gene ZFYVE26 (zinc finger FYVE-type containing 26). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Spastic paraplegia | GACGATAAGCTGATTCTTGAGAGTTCTCCTAGAGAATCACTGAACCTGGGGGTGGACTTGGGGACCCCAGACACATGGGGCTACTCATATCATAACCTATTCACCACTCCTCCCTCTATATTACTAAGGCAGAACAGGTTCCTTTCTCCTCCACTGCTCAGTCCTTCCAATGTTTGGTGCAAGTAGCAAGGACAGGTGTGGGGAGTAGAACGTTGCCTAATTCTACCTTCATATACTGATGCCTTCACATACCTGATTTCTCTAAGAATTCTGTATGCACATTCTGCACTGTTATTCACCTCAAGGTATGATCATCCCTC... | GACGATAAGCTGATTCTTGAGAGTTCTCCTAGAGAATCACTGAACCTGGGGGTGGACTTGGGGACCCCAGACACATGGGGCTACTCATATCATAACCTATTCACCACTCCTCCCTCTATATTACTAAGGCAGAACAGGTTCCTTTCTCCTCCACTGCTCAGTCCTTCCAATGTTTGGTGCAAGTAGCAAGGACAGGTGTGGGGAGTAGAACGTTGCCTAATTCTACCTTCATATACTGATGCCTTCACATACCTGATTTCTCTAAGAATTCTGTATGCACATTCTGCACTGTTATTCACCTCAAGGTATGATCATCCCTC... |
Task1_train_19905 | A mutation found in ZFYVE26 (zinc finger FYVE-type containing 26) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary spastic paraplegia 15 | GGAAATCCCACAACTACTTTCAAGTTCTTCTCAGTCCTGGCCTCGGAGGAAAATTTAATATAAACCTACTTACCTTTTCCCGGGCCAACCATTTCTCCAGTACAAGAAGCCAGACCCAGGCTACTCTTTGAGGGTTGATGTCCTGCCCACATCTGAAAAAGGTAAAAAGAAAGACTTGTAAAAAAGAGTTTCTACTGATCTTTCATCTTTTGTCATCCAAGACAGATTTCATTGCTTATTCTGTTTTAAACCTGAACAGGCAAGACACTGCCCTAATGAGATATTTTTAAATGTATATGACAGTTCAGTAAAACATTGGA... | GGAAATCCCACAACTACTTTCAAGTTCTTCTCAGTCCTGGCCTCGGAGGAAAATTTAATATAAACCTACTTACCTTTTCCCGGGCCAACCATTTCTCCAGTACAAGAAGCCAGACCCAGGCTACTCTTTGAGGGTTGATGTCCTGCCCACATCTGAAAAAGGTAAAAAGAAAGACTTGTAAAAAAGAGTTTCTACTGATCTTTCATCTTTTGTCATCCAAGACAGATTTCATTGCTTATTCTGTTTTAAACCTGAACAGGCAAGACACTGCCCTAATGAGATATTTTTAAATGTATATGACAGTTCAGTAAAACATTGGA... |
Task1_train_19906 | A change on Chromosome 14 affects gene ACTN1 (actinin alpha 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Platelet-type bleeding disorder 15 | AATGTCTGTGCAAGGGGGGACAGACTAGGAAGGTTGGGGGGTGGGGGACGGCCTGGGACAATCCAGAGGGGCGGCAGGCCCAACCAGAGTCACCGCCAGGACAGAGGTGGAAGTCTCGGTTTCCATGCTCCATGTGAGGTGACGCATGCCAGCCCGAAACCTGGGATGTCCCACACCACCAGTCCTTCCTGCCAGCCTCAGGGTCAGCCCAGCTGTCCACAGTGGGAGTGAGAAGTACCAGAAGATGAAGTGGCACAGAGATTGAGGCGAGGAGGTCAGGCCTCCCGGATACACACACGCCCGTGGCCGGGCCGGCTTTC... | AATGTCTGTGCAAGGGGGGACAGACTAGGAAGGTTGGGGGGTGGGGGACGGCCTGGGACAATCCAGAGGGGCGGCAGGCCCAACCAGAGTCACCGCCAGGACAGAGGTGGAAGTCTCGGTTTCCATGCTCCATGTGAGGTGACGCATGCCAGCCCGAAACCTGGGATGTCCCACACCACCAGTCCTTCCTGCCAGCCTCAGGGTCAGCCCAGCTGTCCACAGTGGGAGTGAGAAGTACCAGAAGATGAAGTGGCACAGAGATTGAGGCGAGGAGGTCAGGCCTCCCGGATACACACACGCCCGTGGCCGGGCCGGCTTTC... |
Task1_train_19907 | Gene ACTN1 (actinin alpha 1) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Macrothrombocytopenia | ATACACCCCCGACGTGAGGCAGAAAGAAGCTCGCAGCACCACCAAGTCTTCTTGCCAAAATGTGGAGCCCGAATCTAACCAGCCTCTGGCGTCAACTTGCGCTTATGGGAATGTAAGTAGAGGAACAGGTGAAATGAAGCCCCAAAGGAGGCGGACAAACCCAGTATAAGGAACTTGCTACAGGACAGCGGCCCCATTTCTGCAGCAAGTTCATTGGCAGGAATAAAAGGGGTCAAAGGGAGGAGAGAAGTACTAGAGATGGGAAAAGCTGTCAGAAACACAACCGAATGCCAGTATGGACCTTGTTTGGATTCTGATTA... | ATACACCCCCGACGTGAGGCAGAAAGAAGCTCGCAGCACCACCAAGTCTTCTTGCCAAAATGTGGAGCCCGAATCTAACCAGCCTCTGGCGTCAACTTGCGCTTATGGGAATGTAAGTAGAGGAACAGGTGAAATGAAGCCCCAAAGGAGGCGGACAAACCCAGTATAAGGAACTTGCTACAGGACAGCGGCCCCATTTCTGCAGCAAGTTCATTGGCAGGAATAAAAGGGGTCAAAGGGAGGAGAGAAGTACTAGAGATGGGAAAAGCTGTCAGAAACACAACCGAATGCCAGTATGGACCTTGTTTGGATTCTGATTA... |
Task1_train_19908 | Located on Chromosome 14, this mutation impacts ACTN1 (actinin alpha 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Platelet-type bleeding disorder 15 | ACTGAAGGAGGAGCCCTGGCCATCAAGTCTATTCCCTTGACAGAGTTTGAGAAGTTATTTGAGAAACAGAAAAAGCAAGCTGGGAAGCTGTTCAGAGCTAGTCGTGTTACACGTGTAAATTTTGAGACAACAGTTTTTCAAACTTCAAGAATTAGCTCCCCCTACTCTCTTTTATTCAAAGAAATGGTAATGATACAAAATAAGTCGGCAACCTCTATCAGGTTGGGGAGGAAGATTTGATCTGGGAAATCTACACATCTAGGGGTCTCCAGACAGGGGAATCCCACAGCCTGAGGGGTGCACACAGCTGAGTGAGAAGA... | ACTGAAGGAGGAGCCCTGGCCATCAAGTCTATTCCCTTGACAGAGTTTGAGAAGTTATTTGAGAAACAGAAAAAGCAAGCTGGGAAGCTGTTCAGAGCTAGTCGTGTTACACGTGTAAATTTTGAGACAACAGTTTTTCAAACTTCAAGAATTAGCTCCCCCTACTCTCTTTTATTCAAAGAAATGGTAATGATACAAAATAAGTCGGCAACCTCTATCAGGTTGGGGAGGAAGATTTGATCTGGGAAATCTACACATCTAGGGGTCTCCAGACAGGGGAATCCCACAGCCTGAGGGGTGCACACAGCTGAGTGAGAAGA... |
Task1_train_19909 | This sequence change occurs on Chromosome 14, altering ACTN1 (actinin alpha 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Platelet-type bleeding disorder 15 | CCACTGCCACCCAGGTCAGAGCCCTGGGAATCTATATTCTTCTCCCCACTGCGTTTAATATATTCATTCATTCAGAAATATTAAATACGATGTTCAGGCCGGTGCTCAGTGTCTGTCCCCTAGGAACTTGGTCTCACAGTCCTTTCAGGGGCCTAGTTCCTAGGCAGCTCTGTTACTCCTGCCCCTCCCAGGCACAAAGCAGGTGCTCCCTAAGCAGGGATTTCTCCTTCGATTCTAACCCCCAGGGAAGACCCCAATCCACCACCCTAATCTCACTTCTAATTTAAAATCCATTCTCAAGAAGGCTTCACCCTGAAATT... | CCACTGCCACCCAGGTCAGAGCCCTGGGAATCTATATTCTTCTCCCCACTGCGTTTAATATATTCATTCATTCAGAAATATTAAATACGATGTTCAGGCCGGTGCTCAGTGTCTGTCCCCTAGGAACTTGGTCTCACAGTCCTTTCAGGGGCCTAGTTCCTAGGCAGCTCTGTTACTCCTGCCCCTCCCAGGCACAAAGCAGGTGCTCCCTAAGCAGGGATTTCTCCTTCGATTCTAACCCCCAGGGAAGACCCCAATCCACCACCCTAATCTCACTTCTAATTTAAAATCCATTCTCAAGAAGGCTTCACCCTGAAATT... |
Task1_train_19910 | This sequence change occurs on Chromosome 14, altering SMOC1 (SPARC related modular calcium binding 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Microphthalmia with limb anomalies | CCAAGCTGATTATTGTTGTTATTTTAAAAATCAGGAAATCTGTTTCTCACAGAAAATTATTTAACTTCTGTATTCTGCCAGAGAGAGGTGGGCAAAAATTGGAGGGATGATAGATTTGGAGCTCACTACGATCTAATAAATAAAACTTTCCCGAGATGGAATTTGGAGATTTATGGTATATTCCTGATTTGAGGATACACCCAAATAGAGGCTGCATGGCCATCTGCATGGATGAAGAGGCTGGACATCCTAGAGGATAAAGCTTTGATTTTACTTCTGACAGATTTAGGTTCTAATTCAGCCTCCACTGCTTATAGCTA... | CCAAGCTGATTATTGTTGTTATTTTAAAAATCAGGAAATCTGTTTCTCACAGAAAATTATTTAACTTCTGTATTCTGCCAGAGAGAGGTGGGCAAAAATTGGAGGGATGATAGATTTGGAGCTCACTACGATCTAATAAATAAAACTTTCCCGAGATGGAATTTGGAGATTTATGGTATATTCCTGATTTGAGGATACACCCAAATAGAGGCTGCATGGCCATCTGCATGGATGAAGAGGCTGGACATCCTAGAGGATAAAGCTTTGATTTTACTTCTGACAGATTTAGGTTCTAATTCAGCCTCCACTGCTTATAGCTA... |
Task1_train_19911 | This mutation occurs in LOC126861980, SMOC1 (MED14-independent group 3 enhancer GRCh37_chr14:70477330-70478529| SPARC related modular calcium binding 1) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Microphthalmia with limb anomalies | GCCATGGCACCTTCCCAGCCAGGGGCTGAAGTCAAAATGCTGGATCTTTAAAGCAGGTTTCCCAAGGCCCCTCTCCCTGCTCAGTTTCTGTCTCTTTCCTGTCTCTAGATGCTGTTCTGGTGGTAGTCACAGTTGGAGGCAAAACCCAAGTCTGATGTCTGTCAGCTGTTTTAAACTCCTCTTCCTCTAGCCAAGGAGACTCTGTTTAGCTTTTCTATATTTGCATTATGAAAACAGTAGTTTTTTTTCACTTCCCAAATTCAAAACAACATTTTCTATTTTAATAGTGAATATGCTATATGTGCCTGCCTCCTGGCCCT... | GCCATGGCACCTTCCCAGCCAGGGGCTGAAGTCAAAATGCTGGATCTTTAAAGCAGGTTTCCCAAGGCCCCTCTCCCTGCTCAGTTTCTGTCTCTTTCCTGTCTCTAGATGCTGTTCTGGTGGTAGTCACAGTTGGAGGCAAAACCCAAGTCTGATGTCTGTCAGCTGTTTTAAACTCCTCTTCCTCTAGCCAAGGAGACTCTGTTTAGCTTTTCTATATTTGCATTATGAAAACAGTAGTTTTTTTTCACTTCCCAAATTCAAAACAACATTTTCTATTTTAATAGTGAATATGCTATATGTGCCTGCCTCCTGGCCCT... |
Task1_train_19912 | This alteration in PSEN1 (presenilin 1) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Dementia | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... |
Task1_train_19913 | A genomic change on Chromosome 14 affects PSEN1 (presenilin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Frontotemporal dementia | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... |
Task1_train_19914 | A variant was discovered in gene PSEN1 (presenilin 1), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Alzheimer disease 3 | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... |
Task1_train_19915 | A variant found in Chromosome 14 affects PSEN1 (presenilin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Pick disease | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... |
Task1_train_19916 | Here is a mutation in PSEN1 (presenilin 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Acne inversa, familial, 3 | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... |
Task1_train_19917 | A mutation in PSEN1 (presenilin 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Alzheimer disease 3 | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... | TAGAGCCTGCGCCTGCCAGAGAGGAGCAACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTG... |
Task1_train_19918 | Given this variant in gene PSEN1 (presenilin 1) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Frontotemporal dementia | AACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTC... | AACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTC... |
Task1_train_19919 | Assess the clinical impact of this variant on gene PSEN1 (presenilin 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | AACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTC... | AACTGGCTGGTTCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTC... |
Task1_train_19920 | A variant affecting Chromosome 14, within the gene PSEN1 (presenilin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Alzheimer disease 3 | TCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTA... | TCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTA... |
Task1_train_19921 | A variant was discovered in gene PSEN1 (presenilin 1), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Pick disease | TCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTA... | TCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTA... |
Task1_train_19922 | A mutation in PSEN1 (presenilin 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Acne inversa, familial, 3 | TCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTA... | TCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTA... |
Task1_train_19923 | Consider this mutation in PSEN1 (presenilin 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Frontotemporal dementia | TCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTA... | TCCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTA... |
Task1_train_19924 | Located on Chromosome 14, this mutation impacts PSEN1 (presenilin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Alzheimer disease 3 | CCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTAT... | CCCGCATTCGTTTGCTCTGATTCCCACACTCACTCACTCGCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTAT... |
Task1_train_19925 | This alteration occurs within gene PSEN1 (presenilin 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Mental deterioration | GCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTATTCTCTTAATCTCGTTTTCTGGTTTTCTCCCATCACCTGC... | GCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTATTCTCTTAATCTCGTTTTCTGGTTTTCTCCCATCACCTGC... |
Task1_train_19926 | A variant was discovered on Chromosome 14, affecting PSEN1 (presenilin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Dementia | GCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTATTCTCTTAATCTCGTTTTCTGGTTTTCTCCCATCACCTGC... | GCTTGCACACTGCCTCTTGCAAGGGGTTTGAGTGTGTGGTGGCCGAGTAAACGAGCCACGCTCCGAGCCATGAGGGGGTCAAGGGAATTATCCAGTCTCATCTCAATCCGACTTCCCTCTTCACTGTTTTACTTTTGTAAAACCCTTGATGAACTTCCCATTGTCAATTCAGGGTCTTTTTAGCTCTCATCCTGCCAGACTGTTGATAACACCTCTGATTTGTGCTCCACTTTTGGCTTCTGTGTCATATTGATTCCTGAGTTTTCTTCCTTCTCCTCTATTCTCTTAATCTCGTTTTCTGGTTTTCTCCCATCACCTGC... |
Task1_train_19927 | A variant on Chromosome 14 in gene PSEN1 (presenilin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Alzheimer disease 3 | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... |
Task1_train_19928 | Here is a genetic alteration in PSEN1 (presenilin 1) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Frontotemporal dementia | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... |
Task1_train_19929 | Located on Chromosome 14, this mutation impacts PSEN1 (presenilin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Acne inversa, familial, 3 | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... |
Task1_train_19930 | The following genetic variant occurs in PSEN1 (presenilin 1) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Pick disease | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... |
Task1_train_19931 | A variant was discovered on Chromosome 14, affecting PSEN1 (presenilin 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Pick disease | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... |
Task1_train_19932 | This is a variant in PSEN1 (presenilin 1), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Acne inversa, familial, 3 | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... |
Task1_train_19933 | Assess the clinical impact of this variant on gene PSEN1 (presenilin 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Frontotemporal dementia | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... |
Task1_train_19934 | An alteration has been detected in PSEN1 (presenilin 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Alzheimer disease 3 | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... | ATGGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCA... |
Task1_train_19935 | This genomic variant is located on Chromosome 14, within the PSEN1 (presenilin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Pick disease | GGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACA... | GGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACA... |
Task1_train_19936 | This mutation is located in gene PSEN1 (presenilin 1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Acne inversa, familial, 3 | GGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACA... | GGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACA... |
Task1_train_19937 | The variant affects gene PSEN1 (presenilin 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Frontotemporal dementia | GGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACA... | GGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACA... |
Task1_train_19938 | A variant affecting Chromosome 14, within the gene PSEN1 (presenilin 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Alzheimer disease 3 | GGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACA... | GGAACAATGGCAAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACA... |
Task1_train_19939 | A genomic change on Chromosome 14 affects PSEN1 (presenilin 1). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Alzheimer disease 3 | AAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGG... | AAGCGCACATTTGGACAAGGGAGGGGAAAGGGTTCTTATCCCTGACACACGTGGTCCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGG... |
Task1_train_19940 | Gene PSEN1 (presenilin 1), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Alzheimer disease 3 | CCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGT... | CCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGT... |
Task1_train_19941 | Consider this mutation in PSEN1 (presenilin 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Alzheimer disease 3 | CCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGT... | CCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGT... |
Task1_train_19942 | This variant lies on Chromosome 14 and affects the gene PSEN1 (presenilin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Pick disease | CCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGT... | CCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGT... |
Task1_train_19943 | A sequence alteration has been identified in PSEN1 (presenilin 1) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Frontotemporal dementia | CCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGT... | CCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGT... |
Task1_train_19944 | A variant has been detected on Chromosome 14 in PSEN1 (presenilin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Acne inversa, familial, 3 | CCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGT... | CCCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGT... |
Task1_train_19945 | This mutation is located in gene PSEN1 (presenilin 1) on Chromosome 14. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Alzheimer disease 3 | CCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTC... | CCTGCTGCTGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTC... |
Task1_train_19946 | Given this context: Chromosome 14, gene PSEN1 (presenilin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Pick disease | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... |
Task1_train_19947 | An alteration has been detected in PSEN1 (presenilin 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dilated cardiomyopathy 1U | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... |
Task1_train_19948 | Here is a genetic alteration in PSEN1 (presenilin 1) on Chromosome 14. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Acne inversa, familial, 3 | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... |
Task1_train_19949 | The gene PSEN1 (presenilin 1) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Frontotemporal dementia | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... |
Task1_train_19950 | A sequence alteration has been identified in PSEN1 (presenilin 1) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Alzheimer disease 3 | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... |
Task1_train_19951 | The variant affects gene PSEN1 (presenilin 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Alzheimer disease | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... | TGTGTTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGG... |
Task1_train_19952 | This variant lies on Chromosome 14 and affects the gene PSEN1 (presenilin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Alzheimer disease 3 | TTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATC... | TTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATC... |
Task1_train_19953 | This sequence change occurs on Chromosome 14, altering PSEN1 (presenilin 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Pick disease | TTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATC... | TTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATC... |
Task1_train_19954 | This variant affects gene PSEN1 (presenilin 1) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Acne inversa, familial, 3 | TTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATC... | TTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATC... |
Task1_train_19955 | A variant found in Chromosome 14 affects PSEN1 (presenilin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Frontotemporal dementia | TTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATC... | TTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATC... |
Task1_train_19956 | A mutation in PSEN1 (presenilin 1), located on Chromosome 14, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Alzheimer disease 3 | TTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATC... | TTCTTCCCCTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATC... |
Task1_train_19957 | This alteration occurs within gene PSEN1 (presenilin 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Alzheimer disease 3 | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... |
Task1_train_19958 | Here is a variant affecting PSEN1 (presenilin 1) on Chromosome 14. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Pick disease | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... |
Task1_train_19959 | The gene PSEN1 (presenilin 1), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Frontotemporal dementia | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... |
Task1_train_19960 | Mutation context: Chromosome 14, Gene PSEN1 (presenilin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Alzheimer disease 3 | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... |
Task1_train_19961 | An alteration has been detected in PSEN1 (presenilin 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Acne inversa, familial, 3 | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... |
Task1_train_19962 | Gene PSEN1 (presenilin 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Alzheimer disease 3 | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... |
Task1_train_19963 | This variant affects gene PSEN1 (presenilin 1) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Pick disease | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... | CTACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCA... |
Task1_train_19964 | A variant has been detected on Chromosome 14 in PSEN1 (presenilin 1). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Alzheimer disease 3 | ACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATA... | ACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATA... |
Task1_train_19965 | This gene mutation involves PSEN1 (presenilin 1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pick disease | ACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATA... | ACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATA... |
Task1_train_19966 | Mutation context: Chromosome 14, Gene PSEN1 (presenilin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Acne inversa, familial, 3 | ACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATA... | ACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATA... |
Task1_train_19967 | The gene PSEN1 (presenilin 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Frontotemporal dementia | ACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATA... | ACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATA... |
Task1_train_19968 | This genomic variant is located on Chromosome 14, within the PSEN1 (presenilin 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Alzheimer disease 3 | ACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATA... | ACTGACTAGGGTTAGACTGCACAGGCTAAACTAATTCCAATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATA... |
Task1_train_19969 | The following genetic variant occurs in PSEN1 (presenilin 1) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Alzheimer disease 3 | AATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATAGCAACTTGTCCTTTCTCACTTGTCACAATTTGCAAATA... | AATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATAGCAACTTGTCCTTTCTCACTTGTCACAATTTGCAAATA... |
Task1_train_19970 | This alteration occurs within gene PSEN1 (presenilin 1) located on Chromosome 14. Is it associated with a disease or is it a benign variant? | Pathogenic; Frontotemporal dementia | AATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATAGCAACTTGTCCTTTCTCACTTGTCACAATTTGCAAATA... | AATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATAGCAACTTGTCCTTTCTCACTTGTCACAATTTGCAAATA... |
Task1_train_19971 | A variant was discovered in gene PSEN1 (presenilin 1), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Acne inversa, familial, 3 | AATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATAGCAACTTGTCCTTTCTCACTTGTCACAATTTGCAAATA... | AATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATAGCAACTTGTCCTTTCTCACTTGTCACAATTTGCAAATA... |
Task1_train_19972 | Located on Chromosome 14, this mutation impacts PSEN1 (presenilin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pick disease | AATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATAGCAACTTGTCCTTTCTCACTTGTCACAATTTGCAAATA... | AATTGGCTAATTTAAAGAGAATGATGGGGTGAGTGCTTTGGCAGGAGTCAGGGAAGAGCAGGTAGCAGGTAACTGGAATGAGGGTGGAGCAGGTAATGGAAAAACATTGCTTTACGAGGAAGTTAAGTTTAAAAGTAGAAGGCAAAGAATTGAACATACTGGCGTATTAATTCTTTGAAATTTAGAACTCACATCTAACATTGGCTTAAATGTTAAATCCTCAAAGATAACATTCCTGTTTCTCCTAACACGATTAAGTCCTTCTTGGTATCTTTTCTCATAGCAACTTGTCCTTTCTCACTTGTCACAATTTGCAAATA... |
Task1_train_19973 | A mutation on Chromosome 14 affecting PSEN1 (presenilin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGC... | GGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGC... |
Task1_train_19974 | This gene mutation involves PSEN1 (presenilin 1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; PSEN1-related disorder | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... |
Task1_train_19975 | Gene PSEN1 (presenilin 1) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Acne inversa, familial, 3 | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... |
Task1_train_19976 | Consider this mutation in PSEN1 (presenilin 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Pick disease | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... |
Task1_train_19977 | The gene PSEN1 (presenilin 1) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Frontotemporal dementia | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... |
Task1_train_19978 | Chromosome 14 houses a mutation in gene PSEN1 (presenilin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Alzheimer disease 3 | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... |
Task1_train_19979 | Assess the clinical impact of this variant on gene PSEN1 (presenilin 1), found on Chromosome 14. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Acne inversa, familial, 3 | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... |
Task1_train_19980 | A mutation on Chromosome 14 affecting PSEN1 (presenilin 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pick disease | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... |
Task1_train_19981 | Gene PSEN1 (presenilin 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Dilated cardiomyopathy 1U | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... |
Task1_train_19982 | Consider a variant on Chromosome 14 in gene PSEN1 (presenilin 1). Determine its clinical classification and disease relevance. | Pathogenic; Frontotemporal dementia | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... |
Task1_train_19983 | Given this variant in gene PSEN1 (presenilin 1) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Alzheimer disease 3 | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... | GGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCC... |
Task1_train_19984 | Given this variant in gene PSEN1 (presenilin 1) on Chromosome 14, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Alzheimer disease 3 | CGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGG... | CGGGCGGAGGGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGG... |
Task1_train_19985 | The gene PSEN1 (presenilin 1) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Pick disease | GGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA... | GGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA... |
Task1_train_19986 | With a mutation on Chromosome 14 in gene PSEN1 (presenilin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Acne inversa, familial, 3 | GGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA... | GGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA... |
Task1_train_19987 | This mutation occurs in PSEN1 (presenilin 1) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Frontotemporal dementia | GGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA... | GGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA... |
Task1_train_19988 | Gene PSEN1 (presenilin 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Alzheimer disease 3 | GGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA... | GGGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCA... |
Task1_train_19989 | The gene PSEN1 (presenilin 1), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Alzheimer disease 3 | CTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT... | CTCCTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACAT... |
Task1_train_19990 | Here is a mutation in PSEN1 (presenilin 1) on Chromosome 14. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Pick disease | CTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCC... | CTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCC... |
Task1_train_19991 | This alteration in PSEN1 (presenilin 1) on Chromosome 14 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Acne inversa, familial, 3 | CTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCC... | CTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCC... |
Task1_train_19992 | Consider a variant on Chromosome 14 in gene PSEN1 (presenilin 1). Determine its clinical classification and disease relevance. | Pathogenic; Frontotemporal dementia | CTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCC... | CTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCC... |
Task1_train_19993 | This variant impacts the gene PSEN1 (presenilin 1) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Alzheimer disease 3 | CTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCC... | CTCACTTCCCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCC... |
Task1_train_19994 | The variant affects gene PSEN1 (presenilin 1), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Alzheimer disease 3 | CCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATG... | CCAGACGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATG... |
Task1_train_19995 | This variant affects the gene PSEN1 (presenilin 1) found on Chromosome 14. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Alzheimer disease 3 | CGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGG... | CGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGG... |
Task1_train_19996 | Gene PSEN1 (presenilin 1) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Pick disease | CGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGG... | CGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGG... |
Task1_train_19997 | Gene PSEN1 (presenilin 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Acne inversa, familial, 3 | CGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGG... | CGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGG... |
Task1_train_19998 | Gene PSEN1 (presenilin 1), found on Chromosome 14, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Frontotemporal dementia | CGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGG... | CGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGG... |
Task1_train_19999 | The gene PSEN1 (presenilin 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Alzheimer disease 3 | CGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGG... | CGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGG... |
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