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_20000 | 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; Pick disease | GCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGGCAGAGACGCTCCTCACTT... | GCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCAGACGGGGTCGCGGCCGGGCAGAGGTGCTCCTCACATCCCAGACGGGGCGGCGGGGCAGAGGCGCTCCCCACATCTCAGACGATGGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGTGATGGCAGCCGGGCAGAGGTGCTCCTCACTTCCTAGGTGGGATGGCGGCCGGGCGGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTCACATCCCAGATGATGGGCGGCCAGGCAGAGACGCTCCTCACTT... |
Task1_train_20001 | 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; Pick disease | TTTCCAATCAGGCACGGTGGCTCACACCTGTAATCTCAACATTTTTGGAGGTGGAGACAGGAGGACTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCC... | TTTCCAATCAGGCACGGTGGCTCACACCTGTAATCTCAACATTTTTGGAGGTGGAGACAGGAGGACTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCC... |
Task1_train_20002 | 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 | TTTCCAATCAGGCACGGTGGCTCACACCTGTAATCTCAACATTTTTGGAGGTGGAGACAGGAGGACTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCC... | TTTCCAATCAGGCACGGTGGCTCACACCTGTAATCTCAACATTTTTGGAGGTGGAGACAGGAGGACTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCC... |
Task1_train_20003 | 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 | TTTCCAATCAGGCACGGTGGCTCACACCTGTAATCTCAACATTTTTGGAGGTGGAGACAGGAGGACTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCC... | TTTCCAATCAGGCACGGTGGCTCACACCTGTAATCTCAACATTTTTGGAGGTGGAGACAGGAGGACTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCC... |
Task1_train_20004 | A genetic alteration is present in PSEN1 (presenilin 1) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Alzheimer disease 3 | TTTCCAATCAGGCACGGTGGCTCACACCTGTAATCTCAACATTTTTGGAGGTGGAGACAGGAGGACTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCC... | TTTCCAATCAGGCACGGTGGCTCACACCTGTAATCTCAACATTTTTGGAGGTGGAGACAGGAGGACTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCC... |
Task1_train_20005 | Given a variant located on Chromosome 14 and affecting PSEN1 (presenilin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Alzheimer disease 3 | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20006 | 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 | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20007 | A sequence alteration has been identified in PSEN1 (presenilin 1) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Frontotemporal dementia | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20008 | This mutation occurs in PSEN1 (presenilin 1) on Chromosome 14. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Acne inversa, familial, 3 | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20009 | 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; Alzheimer disease 3 | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20010 | 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 | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20011 | 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 | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20012 | The gene PSEN1 (presenilin 1), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Pick disease | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20013 | 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 | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20014 | Given a variant located on Chromosome 14 and affecting PSEN1 (presenilin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Alzheimer disease 3 | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20015 | 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; Acne inversa, familial, 3 | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20016 | 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; Pick disease | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20017 | 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; Dilated cardiomyopathy 1U | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20018 | 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; Frontotemporal dementia | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20019 | 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 | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20020 | 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; not provided | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... | CTGCTTGAGCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGG... |
Task1_train_20021 | 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; not provided | GCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAA... | GCCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAA... |
Task1_train_20022 | 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; Alzheimer disease 3 | CCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAA... | CCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAA... |
Task1_train_20023 | An alteration has been detected in PSEN1 (presenilin 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Pick disease | CCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAA... | CCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAA... |
Task1_train_20024 | 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 | CCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAA... | CCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAA... |
Task1_train_20025 | 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; Acne inversa, familial, 3 | CCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAA... | CCTAGGAGTTCATAGCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAA... |
Task1_train_20026 | 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 | GCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGC... | GCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGC... |
Task1_train_20027 | The gene PSEN1 (presenilin 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Acne inversa, familial, 3 | GCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGC... | GCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGC... |
Task1_train_20028 | 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; Frontotemporal dementia | GCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGC... | GCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGC... |
Task1_train_20029 | 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 | GCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGC... | GCCAGCCTGGGCAACATAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGC... |
Task1_train_20030 | A sequence alteration has been identified in PSEN1 (presenilin 1) on Chromosome 14. Is it disease-inducing or harmless? | Pathogenic; Familial Alzheimer disease | TAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGC... | TAGCAAGACCCCATCTCAAGAAAAAGTAGTGCTTTCCTCTAAAGAGGGGAACCATGGGGCACAGTGGGGAGAAAACCTACTTTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGC... |
Task1_train_20031 | 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 | TTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTA... | TTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTA... |
Task1_train_20032 | This variant affects gene PSEN1 (presenilin 1) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Pick disease | TTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTA... | TTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTA... |
Task1_train_20033 | Consider a variant on Chromosome 14 in gene PSEN1 (presenilin 1). Determine its clinical classification and disease relevance. | Pathogenic; Frontotemporal dementia | TTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTA... | TTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTA... |
Task1_train_20034 | 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 | TTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTA... | TTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTA... |
Task1_train_20035 | 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; Acne inversa, familial, 3 | TTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTA... | TTTCACAGTATCTGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTA... |
Task1_train_20036 | 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 | TGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTT... | TGTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTT... |
Task1_train_20037 | Consider this mutation in PSEN1 (presenilin 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Alzheimer disease 3 | GTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTC... | GTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTC... |
Task1_train_20038 | 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; Frontotemporal dementia | GTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTC... | GTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTC... |
Task1_train_20039 | 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 | GTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTC... | GTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTC... |
Task1_train_20040 | 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 | GTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTC... | GTTGTGAATTTTATATCTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTC... |
Task1_train_20041 | 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; Frontotemporal dementia | CTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTCTTCATTATAAAAATAC... | CTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTCTTCATTATAAAAATAC... |
Task1_train_20042 | 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; Pick disease | CTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTCTTCATTATAAAAATAC... | CTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTCTTCATTATAAAAATAC... |
Task1_train_20043 | 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; Acne inversa, familial, 3 | CTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTCTTCATTATAAAAATAC... | CTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTCTTCATTATAAAAATAC... |
Task1_train_20044 | 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; Alzheimer disease 3 | CTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTCTTCATTATAAAAATAC... | CTTATTCATGTGTTACCTGGCCAAAGATTAATAAATAGATTGTTTTTGTTTTTGTTTTTTAGTTTGAGGATACTGGAAATGCTTAATATAAATATCTACATCGTCCAGAAATTTCAATGTTTACTCTATTTTGGAATTTCAAAGTGGGAGAGGAATCATCTTTTTGGATGGTACCTGAAACTGAAAGTTTATGCCTAAAGGCGTGCTTGCTTTCTCCTCAGTTACCTCAGGCATCTTCTACAGTTGCAATCTCTTTGTTGTTAGATGGTGGATTTTGCCTCCCCAGAATTAAAATAGCATTTTCTTCATTATAAAAATAC... |
Task1_train_20045 | Consider this mutation in PSEN1 (presenilin 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Alzheimer disease 3 | GCACATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAAT... | GCACATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAAT... |
Task1_train_20046 | 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; Frontotemporal dementia | CATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGA... | CATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGA... |
Task1_train_20047 | 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 | CATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGA... | CATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGA... |
Task1_train_20048 | This variant impacts the gene PSEN1 (presenilin 1) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pick disease | CATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGA... | CATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGA... |
Task1_train_20049 | 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; Acne inversa, familial, 3 | CATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGA... | CATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGA... |
Task1_train_20050 | Consider a variant on Chromosome 14 in gene PSEN1 (presenilin 1). Determine its clinical classification and disease relevance. | Pathogenic; Alzheimer disease 3 | CATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGA... | CATCATACAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGA... |
Task1_train_20051 | This gene mutation involves PSEN1 (presenilin 1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Alzheimer disease 3 | CAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAA... | CAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAA... |
Task1_train_20052 | 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; Pick disease | CAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAA... | CAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAA... |
Task1_train_20053 | This variant impacts the gene PSEN1 (presenilin 1) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Frontotemporal dementia | CAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAA... | CAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAA... |
Task1_train_20054 | Consider this mutation in PSEN1 (presenilin 1) on Chromosome 14. Is this a benign change or a disease-causing variant? | Pathogenic; Acne inversa, familial, 3 | CAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAA... | CAAATGAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAA... |
Task1_train_20055 | 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; Frontotemporal dementia | GAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGT... | GAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGT... |
Task1_train_20056 | This is a variant in PSEN1 (presenilin 1), located on Chromosome 14. Is this mutation a likely cause of disease or not? | Pathogenic; Alzheimer disease 3 | GAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGT... | GAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGT... |
Task1_train_20057 | This variant impacts the gene PSEN1 (presenilin 1) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Pick disease | GAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGT... | GAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGT... |
Task1_train_20058 | This gene mutation involves PSEN1 (presenilin 1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Acne inversa, familial, 3 | GAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGT... | GAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGT... |
Task1_train_20059 | This variant affects gene PSEN1 (presenilin 1) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Alzheimer disease 3 | GAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGT... | GAGTATCTCTACAGAGCTTTGAGTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGT... |
Task1_train_20060 | 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; Abnormality of the nervous system | GTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGT... | GTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGT... |
Task1_train_20061 | A genetic alteration is present in PSEN1 (presenilin 1) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Pick disease | GTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGT... | GTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGT... |
Task1_train_20062 | 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; Frontotemporal dementia | GTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGT... | GTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGT... |
Task1_train_20063 | 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; Alzheimer disease 3 | GTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGT... | GTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGT... |
Task1_train_20064 | The gene PSEN1 (presenilin 1) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Acne inversa, familial, 3 | GTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGT... | GTTGCTTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGT... |
Task1_train_20065 | 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 | TTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTG... | TTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTG... |
Task1_train_20066 | 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; Acne inversa, familial, 3 | TTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTG... | TTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTG... |
Task1_train_20067 | 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; Frontotemporal dementia | TTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTG... | TTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTG... |
Task1_train_20068 | 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; Pick disease | TTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTG... | TTTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTG... |
Task1_train_20069 | 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 | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... |
Task1_train_20070 | 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; Frontotemporal dementia | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... |
Task1_train_20071 | 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; Alzheimer disease 3 | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... |
Task1_train_20072 | 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; Acne inversa, familial, 3 | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... |
Task1_train_20073 | This variant affects gene PSEN1 (presenilin 1) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Alzheimer disease 3 | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... |
Task1_train_20074 | This variant affects gene PSEN1 (presenilin 1) located on Chromosome 14. Evaluate its biological effect and specify any disease association. | Pathogenic; Alzheimer disease 3 | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... |
Task1_train_20075 | This gene mutation involves PSEN1 (presenilin 1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Pick disease | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... |
Task1_train_20076 | 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; Frontotemporal dementia | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... |
Task1_train_20077 | This gene mutation involves PSEN1 (presenilin 1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Acne inversa, familial, 3 | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... | TTTAAACAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGT... |
Task1_train_20078 | 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 | CAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTA... | CAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTA... |
Task1_train_20079 | 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 | CAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTA... | CAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTA... |
Task1_train_20080 | 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 | CAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTA... | CAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTA... |
Task1_train_20081 | Gene PSEN1 (presenilin 1) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Pick disease | CAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTA... | CAAAAGAGATTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTA... |
Task1_train_20082 | 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 | TTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTAC... | TTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTAC... |
Task1_train_20083 | The gene PSEN1 (presenilin 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Pick disease | TTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTAC... | TTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTAC... |
Task1_train_20084 | A change on Chromosome 14 affects gene PSEN1 (presenilin 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Frontotemporal dementia | TTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTAC... | TTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTAC... |
Task1_train_20085 | This variant impacts the gene PSEN1 (presenilin 1) on Chromosome 14. Is the change likely to result in a pathogenic outcome? | Pathogenic; Acne inversa, familial, 3 | TTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTAC... | TTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTAC... |
Task1_train_20086 | This gene mutation involves PSEN1 (presenilin 1) on Chromosome 14. Is it associated with any clinical condition, or is it benign? | Pathogenic; Early-onset autosomal dominant Alzheimer disease | TTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTAC... | TTTTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTAC... |
Task1_train_20087 | The gene PSEN1 (presenilin 1), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | TTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTACTA... | TTTGTACCCAATGTTTAGAGTAGTGATTCTCGGCTCCATTTTTACAAGATTTCAAGATTTAATTTGTCAAAAAAGTTCTGAAATTTTCAAAGCAAAAGCAATTTTAATTTAATTGCTCTAAAAAATAAGCAGATTTATCATTTAGCAATTCTTTAAGGGAGAGTGTATCATAAAACTGAAATAGTACTGAATGTGGCAGAATCAAACAAGTTGAAAATCTCATCACTTCAGAGCAGGGCAGACTTCTCATTCAAACAAATTGAGGTAGAAGTGGTGAGAGTAGAGATTTCTTTGTGTATGTGTGTTTTATTACTGTACTA... |
Task1_train_20088 | 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; Alzheimer disease 3 | GTGGGACTTTCCCTCATATTGCAAGATATTTAACATCCCTGGCCCCTCACCCACTAAATGCCAATAATGGCTTTAAGGCTTTGCAATAATCAAAAACTCCTCCATCCTAGTTATTTCCAAACACTCCCCGGAAGGGAGGTGCTATCCCTAGTTGAAAAATCACTGTGTTAACGGAACTAGAAGTTACATTGGAACAAAAGGGCATAGGGCTCCAAGAGGGATATCTGTGTAAGGAAAAAACAAACAAAAGAACTGAGAGATTACCTGATGTGGTTGAGCTCTGTCAGAGCATTTCAGGATAAATTAGTCATAGATAATAA... | GTGGGACTTTCCCTCATATTGCAAGATATTTAACATCCCTGGCCCCTCACCCACTAAATGCCAATAATGGCTTTAAGGCTTTGCAATAATCAAAAACTCCTCCATCCTAGTTATTTCCAAACACTCCCCGGAAGGGAGGTGCTATCCCTAGTTGAAAAATCACTGTGTTAACGGAACTAGAAGTTACATTGGAACAAAAGGGCATAGGGCTCCAAGAGGGATATCTGTGTAAGGAAAAAACAAACAAAAGAACTGAGAGATTACCTGATGTGGTTGAGCTCTGTCAGAGCATTTCAGGATAAATTAGTCATAGATAATAA... |
Task1_train_20089 | 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 | GTGGGACTTTCCCTCATATTGCAAGATATTTAACATCCCTGGCCCCTCACCCACTAAATGCCAATAATGGCTTTAAGGCTTTGCAATAATCAAAAACTCCTCCATCCTAGTTATTTCCAAACACTCCCCGGAAGGGAGGTGCTATCCCTAGTTGAAAAATCACTGTGTTAACGGAACTAGAAGTTACATTGGAACAAAAGGGCATAGGGCTCCAAGAGGGATATCTGTGTAAGGAAAAAACAAACAAAAGAACTGAGAGATTACCTGATGTGGTTGAGCTCTGTCAGAGCATTTCAGGATAAATTAGTCATAGATAATAA... | GTGGGACTTTCCCTCATATTGCAAGATATTTAACATCCCTGGCCCCTCACCCACTAAATGCCAATAATGGCTTTAAGGCTTTGCAATAATCAAAAACTCCTCCATCCTAGTTATTTCCAAACACTCCCCGGAAGGGAGGTGCTATCCCTAGTTGAAAAATCACTGTGTTAACGGAACTAGAAGTTACATTGGAACAAAAGGGCATAGGGCTCCAAGAGGGATATCTGTGTAAGGAAAAAACAAACAAAAGAACTGAGAGATTACCTGATGTGGTTGAGCTCTGTCAGAGCATTTCAGGATAAATTAGTCATAGATAATAA... |
Task1_train_20090 | 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; Acne inversa, familial, 3 | GTGGGACTTTCCCTCATATTGCAAGATATTTAACATCCCTGGCCCCTCACCCACTAAATGCCAATAATGGCTTTAAGGCTTTGCAATAATCAAAAACTCCTCCATCCTAGTTATTTCCAAACACTCCCCGGAAGGGAGGTGCTATCCCTAGTTGAAAAATCACTGTGTTAACGGAACTAGAAGTTACATTGGAACAAAAGGGCATAGGGCTCCAAGAGGGATATCTGTGTAAGGAAAAAACAAACAAAAGAACTGAGAGATTACCTGATGTGGTTGAGCTCTGTCAGAGCATTTCAGGATAAATTAGTCATAGATAATAA... | GTGGGACTTTCCCTCATATTGCAAGATATTTAACATCCCTGGCCCCTCACCCACTAAATGCCAATAATGGCTTTAAGGCTTTGCAATAATCAAAAACTCCTCCATCCTAGTTATTTCCAAACACTCCCCGGAAGGGAGGTGCTATCCCTAGTTGAAAAATCACTGTGTTAACGGAACTAGAAGTTACATTGGAACAAAAGGGCATAGGGCTCCAAGAGGGATATCTGTGTAAGGAAAAAACAAACAAAAGAACTGAGAGATTACCTGATGTGGTTGAGCTCTGTCAGAGCATTTCAGGATAAATTAGTCATAGATAATAA... |
Task1_train_20091 | 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 | GTGGGACTTTCCCTCATATTGCAAGATATTTAACATCCCTGGCCCCTCACCCACTAAATGCCAATAATGGCTTTAAGGCTTTGCAATAATCAAAAACTCCTCCATCCTAGTTATTTCCAAACACTCCCCGGAAGGGAGGTGCTATCCCTAGTTGAAAAATCACTGTGTTAACGGAACTAGAAGTTACATTGGAACAAAAGGGCATAGGGCTCCAAGAGGGATATCTGTGTAAGGAAAAAACAAACAAAAGAACTGAGAGATTACCTGATGTGGTTGAGCTCTGTCAGAGCATTTCAGGATAAATTAGTCATAGATAATAA... | GTGGGACTTTCCCTCATATTGCAAGATATTTAACATCCCTGGCCCCTCACCCACTAAATGCCAATAATGGCTTTAAGGCTTTGCAATAATCAAAAACTCCTCCATCCTAGTTATTTCCAAACACTCCCCGGAAGGGAGGTGCTATCCCTAGTTGAAAAATCACTGTGTTAACGGAACTAGAAGTTACATTGGAACAAAAGGGCATAGGGCTCCAAGAGGGATATCTGTGTAAGGAAAAAACAAACAAAAGAACTGAGAGATTACCTGATGTGGTTGAGCTCTGTCAGAGCATTTCAGGATAAATTAGTCATAGATAATAA... |
Task1_train_20092 | 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; Pick disease | CTCCCGAGTAGCTGGGACTACAGGCACACATCACCATACCCGGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACA... | CTCCCGAGTAGCTGGGACTACAGGCACACATCACCATACCCGGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACA... |
Task1_train_20093 | 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 | TAGCTGGGACTACAGGCACACATCACCATACCCGGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAA... | TAGCTGGGACTACAGGCACACATCACCATACCCGGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAA... |
Task1_train_20094 | 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; not provided | TACAGGCACACATCACCATACCCGGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCT... | TACAGGCACACATCACCATACCCGGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCT... |
Task1_train_20095 | 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 | GGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGG... | GGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGG... |
Task1_train_20096 | 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; Acne inversa, familial, 3 | GGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGG... | GGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGG... |
Task1_train_20097 | 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; Frontotemporal dementia | GGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGG... | GGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGG... |
Task1_train_20098 | 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; Alzheimer disease 3 | GGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGG... | GGCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGG... |
Task1_train_20099 | The gene PSEN1 (presenilin 1) is located on Chromosome 14, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Pick disease | GCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGG... | GCTAATTTTTATATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAAAAAAATTTTTTTTAAATACCGTTAAGAAGTGGAAAATAAGGCCAGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGTTGGTGGATCACCTGAGGTTTGGAGTTTGAGACCAGCCTGGCCAACATGGTAAAACCTCATATCTACTAAAAATACAAAATTAGCCGGG... |
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