ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
|---|---|---|---|---|
Task1_train_23000 | Gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTC... | TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTC... |
Task1_train_23001 | This variant impacts the gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Lymphatic malformation 6 | TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTC... | TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTC... |
Task1_train_23002 | The gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTC... | TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTC... |
Task1_train_23003 | The following genetic variant occurs in PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Blood group, ER | TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTC... | TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTC... |
Task1_train_23004 | Located on Chromosome 16, this mutation impacts PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Non-immune hydrops fetalis | TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTC... | TCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTC... |
Task1_train_23005 | This sequence variant lies in PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Lymphatic malformation 6 | ATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGT... | ATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCTCAGGCTGCAGACCCAGTTCCCCTCCACTGTCAGCACTGTGTACAGGTGT... |
Task1_train_23006 | Consider this mutation in PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | CACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTG... | CACAGCCAGCTCTGCTCCCGCAGGGAGGACCCCCAAGCCTGCATTGAGGAGCAGCTGTGCTACAGCTGCCGCGTGAACATGAAGGACTTGGTGAGTACGTGCCCACCTGTCCTGGGCCGGGCTTGGGGACGCGGGAAGGCCGTCACCTCGTGGGTGGCTTGAGGGGGTGCTGGCAGGTTTCTTGGCCCCTCGACACCGGCCTCTGTTGCAGCCCTCACTGGACCCCCTGCCGCCGTACATCCTGGCTGAGGCCCAGCTCCGCACACAGAGGTACTGGGGCCCACACTGCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTG... |
Task1_train_23007 | Given this context: Chromosome 16, gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; PIEZO1-related disorder | GCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCC... | GCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCC... |
Task1_train_23008 | This variant lies on Chromosome 16 and affects the gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Lymphatic malformation 6 | GCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCC... | GCCGTGGCGCGTGGGTAAGGGGCCTCGGGGCTGGTGCCCACTGCAGCTTTCTCTCTAGGGCCTGGGGCTTGCAGGAGATCCGGGACTGTCTGATTGAGGACAGTGACGACGAGGCGGGCCAGAGCTGAGCGTGAGGACGTGCTTGCCGGGACAGCAGGCAGTGGCCACCTGGTACACCACACTGGAGCCGGAAGGCAAGGACGGGGGACTGGCCTCTGATTGTCCATTTGTATAAATAAAACATTTTTTAATTAAAAAAAAAACTCTACAGTACACGTGGGGGACGGCAGCGCCACGCAGGCCGTGGGGACGCAGTGTCC... |
Task1_train_23009 | This variant affects the gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | CTGAGCCCCTCCCGGATGGGGACCCTGAGGGGCTGTGGGGGAAGACTCCCACCCATTCAGGAGTTGGGTGGGCTGGTCTAACACCAAGAGCCAGGGGCCCAAAGATGGACCCAGGACAGCCAGGCGGCCAGCACAAAGGTGTTGGGCCGGTCTCACAGGTCAGGCCACGGGCAGCCACCAGAACCTGGGTGGTCAGAGCCAAGACCGTGGGGCAGCAGGCTACACATGACCCATGTCCCTGTAGCCTGGTTTCCCATGGGACTTGGGAGGCCTGGATGGGGCGGGGTGGGCTAACTGGAGGTGGAGGAGCTCGGCTCCCA... | CTGAGCCCCTCCCGGATGGGGACCCTGAGGGGCTGTGGGGGAAGACTCCCACCCATTCAGGAGTTGGGTGGGCTGGTCTAACACCAAGAGCCAGGGGCCCAAAGATGGACCCAGGACAGCCAGGCGGCCAGCACAAAGGTGTTGGGCCGGTCTCACAGGTCAGGCCACGGGCAGCCACCAGAACCTGGGTGGTCAGAGCCAAGACCGTGGGGCAGCAGGCTACACATGACCCATGTCCCTGTAGCCTGGTTTCCCATGGGACTTGGGAGGCCTGGATGGGGCGGGGTGGGCTAACTGGAGGTGGAGGAGCTCGGCTCCCA... |
Task1_train_23010 | Given a variant located on Chromosome 16 and affecting CDT1 (chromatin licensing and DNA replication factor 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Meier-Gorlin syndrome 4 | GGATCCTGAGTAGCAGAGATTACAGGTGCCTGCCATCACGTCCGGCTAATTTTTGTATTTATTGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCAGGCCACCTTTGAGGTATTTTGCAAGCACCAGTTGCATCATCAAACCGGTTTCTATTCCTTTAACTTAAAAAAAAATAGGCACAATTCACGCTTTTTACAGAAAACTTGGAAAATGGGAAAACAGAAGCCCTCCTCTGAGCCCT... | GGATCCTGAGTAGCAGAGATTACAGGTGCCTGCCATCACGTCCGGCTAATTTTTGTATTTATTGTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCGACTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCAGGCCACCTTTGAGGTATTTTGCAAGCACCAGTTGCATCATCAAACCGGTTTCTATTCCTTTAACTTAAAAAAAAATAGGCACAATTCACGCTTTTTACAGAAAACTTGGAAAATGGGAAAACAGAAGCCCTCCTCTGAGCCCT... |
Task1_train_23011 | The gene CDT1 (chromatin licensing and DNA replication factor 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Meier-Gorlin syndrome 4 | GCGCCATTTCGCCTCCCGGGTTCAAGCGATTCTGCTGCCTCAGCCCCCCAAGCAGTTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGGCGTGAACCATCGCGCCCGGCCCCTTTTCTTCGTTTCCATGTAATAGCTTGATTGAGAAATAATTCACATATCAAATCCACCCTTTTAAAAAGCGAGCAACGCGGATCGCGGAGGCCA... | GCGCCATTTCGCCTCCCGGGTTCAAGCGATTCTGCTGCCTCAGCCCCCCAAGCAGTTGGAATTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAGGGGGTTTTACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTTTCAAAGTGCTGGGATTACAGGCGTGAACCATCGCGCCCGGCCCCTTTTCTTCGTTTCCATGTAATAGCTTGATTGAGAAATAATTCACATATCAAATCCACCCTTTTAAAAAGCGAGCAACGCGGATCGCGGAGGCCA... |
Task1_train_23012 | A change on Chromosome 16 affects gene APRT (adenine phosphoribosyltransferase). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Adenine phosphoribosyltransferase deficiency | CCGCCCGGCCCCTCCACACCTGCAGCCTCTGGAGGCAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAA... | CCGCCCGGCCCCTCCACACCTGCAGCCTCTGGAGGCAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAA... |
Task1_train_23013 | A sequence alteration has been identified in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Adenine phosphoribosyltransferase deficiency | CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAG... | CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAG... |
Task1_train_23014 | This variant affects the gene APRT (adenine phosphoribosyltransferase) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; APRT-related disorder | CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAG... | CAGCTTCCCCCTCACAGCTCTGGCCCTTTCCCTGACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAG... |
Task1_train_23015 | A variant on Chromosome 16 in gene APRT (adenine phosphoribosyltransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Adenine phosphoribosyltransferase deficiency | ACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGT... | ACCACCTGCAGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGT... |
Task1_train_23016 | A variant has been detected on Chromosome 16 in APRT (adenine phosphoribosyltransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Adenine phosphoribosyltransferase deficiency | AGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGT... | AGTCCTTGGTCAGAAGGGGCCCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGT... |
Task1_train_23017 | Given a variant located on Chromosome 16 and affecting APRT (adenine phosphoribosyltransferase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Adenine phosphoribosyltransferase deficiency | CCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCAC... | CCCACATGCACCCTCCACTGCCTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCAC... |
Task1_train_23018 | A variant on Chromosome 16 in gene APRT (adenine phosphoribosyltransferase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Adenine phosphoribosyltransferase deficiency | CTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTC... | CTCCCAGGCCTCTGGTGACCAGGCCCTGAGCACATAGGGGTCCTGACGCTACAGGGCACCTCCTGCCTCAGGGCTTTCATGGGCTGGCGGCCTCCATGCTCGGTGCCTCCTCACAGGGCCTCAACTGTAGGCCTGGCTCTCTCCGGTCACTGTTCACACCACCCAGACCTGGGCCTCTGATCAGAACCACCTCTGCCCTAAGTCCTGGTGATGGGGCCCTGAGGGCGACCAGGCAGGCACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTC... |
Task1_train_23019 | This mutation occurs in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Adenine phosphoribosyltransferase deficiency | ACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTT... | ACAGAGGTTGGGTGGTCAGGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTT... |
Task1_train_23020 | Assess the clinical impact of this variant on gene APRT (adenine phosphoribosyltransferase), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Adenine phosphoribosyltransferase deficiency | GGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATA... | GGCTGGTTTCAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATA... |
Task1_train_23021 | A mutation in APRT (adenine phosphoribosyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Adenine phosphoribosyltransferase deficiency | CAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGC... | CAAGTGCTGCCCGTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGC... |
Task1_train_23022 | This variant lies on Chromosome 16 and affects the gene APRT (adenine phosphoribosyltransferase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Adenine phosphoribosyltransferase deficiency | GTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCC... | GTGCAGGGCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCC... |
Task1_train_23023 | A variant affecting Chromosome 16, within the gene APRT (adenine phosphoribosyltransferase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCC... | GCTGGGGCCCAGCACCAGCCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCC... |
Task1_train_23024 | Gene APRT (adenine phosphoribosyltransferase) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Adenine phosphoribosyltransferase deficiency | CCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGA... | CCTCAGTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGA... |
Task1_train_23025 | An alteration has been detected in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Adenine phosphoribosyltransferase deficiency | GTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGG... | GTGTCCTCCTCTCCTCCCCCAGGGGAAATGGAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTGTGAGCCTGGGGGCCACTGTGGACAGACGTGGGCTTCAGAAGCTCGCTGGCCTGGGCCCACCAGCATTTTCTTTTATGAACATGATACACTTTGGCCTTCCTTTCCCCAGCGCCCCTGAGGGCCAGAGGCAGATGTGG... |
Task1_train_23026 | This variant lies on Chromosome 16 and affects the gene APRT (adenine phosphoribosyltransferase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Adenine phosphoribosyltransferase deficiency | CGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTA... | CGCCCCTGAGGGCCAGAGGCAGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTA... |
Task1_train_23027 | A variant was discovered in gene APRT (adenine phosphoribosyltransferase), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Adenine phosphoribosyltransferase deficiency | GAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCAC... | GAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCAC... |
Task1_train_23028 | A variant affecting Chromosome 16, within the gene APRT (adenine phosphoribosyltransferase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Adenine phosphoribosyltransferase deficiency | GCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAG... | GCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAG... |
Task1_train_23029 | This mutation occurs in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Adenine phosphoribosyltransferase deficiency | GGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGA... | GGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGA... |
Task1_train_23030 | Consider a variant on Chromosome 16 in gene APRT (adenine phosphoribosyltransferase). Determine its clinical classification and disease relevance. | Pathogenic; Adenine phosphoribosyltransferase deficiency | CTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACC... | CTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAAGAGATCGAGACCATCCTGGCGAACATGGTGAAACC... |
Task1_train_23031 | Here’s a variant in APRT (adenine phosphoribosyltransferase) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Adenine phosphoribosyltransferase deficiency | AACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGAT... | AACACAGCTTTGCCCCAGGCTTTGGCACTTCCAGCCCCAGGAGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGAT... |
Task1_train_23032 | Consider this mutation in APRT (adenine phosphoribosyltransferase) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Adenine phosphoribosyltransferase deficiency | AGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCA... | AGAGGCGCTGAACCCCAGCAAAGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCA... |
Task1_train_23033 | Given a variant located on Chromosome 16 and affecting APRT (adenine phosphoribosyltransferase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Adenine phosphoribosyltransferase deficiency | AGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTG... | AGGAATGTGTTCCCTGTGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTG... |
Task1_train_23034 | A mutation in APRT (adenine phosphoribosyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Adenine phosphoribosyltransferase deficiency | TGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAG... | TGGGCAGCCGGTGCCCCTGGTCACTGCAGTTGCCCAAGGCTGATATTTCCCTGGGATCCAGCTGGAGATGTTGGGCTGGGAGGCCCTGTGGTCACTCATACTGCAGGAGAGAGAAGAAGGGTACAGGTGCCAGCTTCTCCCTGCCCTTAAGCGAGGTCAGCTCCACCAGGCTCACGCACTCCAGGACCTCAGCCTGCAGGCGGCCCAGCAGCTCACAGGCAGCGTTCATGGTTCCTGGGGATGGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAG... |
Task1_train_23035 | A variant found in Chromosome 16 affects APRT, LOC130059760 (adenine phosphoribosyltransferase| ATAC-STARR-seq lymphoblastoid silent region 7879). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Adenine phosphoribosyltransferase deficiency | GGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTG... | GGGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTG... |
Task1_train_23036 | An alteration has been detected in APRT, LOC130059760 (adenine phosphoribosyltransferase| ATAC-STARR-seq lymphoblastoid silent region 7879) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Adenine phosphoribosyltransferase deficiency | GGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGT... | GGAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGT... |
Task1_train_23037 | The following genetic variant occurs in LOC130059760, APRT (ATAC-STARR-seq lymphoblastoid silent region 7879| adenine phosphoribosyltransferase) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Adenine phosphoribosyltransferase deficiency | GAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTG... | GAGGGTGAGGTCCCCAGTTGGCCTGGGCTGCAGAGAGCAGGTGCTCCAGGCCAGCCCCTGGGTTGGGGAGGGGAAGGCATGGGGAGAGGAAGGTGTCGGCCTGGCCACCAGGCACCCTCTGGACAACAGTAAGCTGCATCCCATGTCACACAGCGAGGTCCTGTCCCACTCCCACCAGGCCCTTGGAGCCACAGCAGTTGGCTGCGGGGAGACCCTTACCACCAGTGGCCAGCAGATCATCCACGACGACCACCCTCTGTCCTGGCTCCAGGGCGTCTTTCTGAATCTCCAGCTCAGCCTGGAGTGGGAAGTGGTGTGTG... |
Task1_train_23038 | The gene GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | TGGAGCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTT... | TGGAGCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTT... |
Task1_train_23039 | Here is a mutation in GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Morquio syndrome | GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATG... | GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATG... |
Task1_train_23040 | A mutation in GALNS (galactosamine (N-acetyl)-6-sulfatase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATG... | GCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATG... |
Task1_train_23041 | Gene GALNS (galactosamine (N-acetyl)-6-sulfatase), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | TCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGT... | TCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGGGTGCCTGGGCGGCCGGGGCTGGAGCTCCTGGGTGGCCAGGGCTGGGGT... |
Task1_train_23042 | The following genetic variant occurs in GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Inborn genetic diseases | GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCC... | GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCC... |
Task1_train_23043 | A variant was discovered in gene GALNS (galactosamine (N-acetyl)-6-sulfatase), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Morquio syndrome | GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCC... | GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCC... |
Task1_train_23044 | This gene mutation involves GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCC... | GAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCC... |
Task1_train_23045 | Here’s a variant in GALNS (galactosamine (N-acetyl)-6-sulfatase) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | AGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCA... | AGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATACTGGCCAACATAGTGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCA... |
Task1_train_23046 | Mutation context: Chromosome 16, Gene GALNS (galactosamine (N-acetyl)-6-sulfatase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGA... | TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGA... |
Task1_train_23047 | Gene GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Morquio syndrome | TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGA... | TGAAACTCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTAGAGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGTAGAAGTTGCAGTGAGCCGAGATTGCACTACTGCACTCCAGCCTGGGCAACAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAACGTGGAACAGGAAGGCCAGGGACAGATGCCTGCGTGCTGCTGGCTTTGACGGTGGAGGGGCCAGGAGCTCAGGAATGGGGCAGCTACTAGGATTGGGAAAAGGCAGGGAACAGA... |
Task1_train_23048 | Here is a variant affecting GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Morquio syndrome | AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGG... | AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGG... |
Task1_train_23049 | The gene GALNS (galactosamine (N-acetyl)-6-sulfatase), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGG... | AAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGG... |
Task1_train_23050 | Gene GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACG... | GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACG... |
Task1_train_23051 | This gene mutation involves GALNS (galactosamine (N-acetyl)-6-sulfatase) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACG... | GTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACG... |
Task1_train_23052 | Chromosome 16 houses a mutation in gene GALNS (galactosamine (N-acetyl)-6-sulfatase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Morquio syndrome | GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCA... | GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCA... |
Task1_train_23053 | A variant affecting Chromosome 16, within the gene GALNS (galactosamine (N-acetyl)-6-sulfatase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCA... | GCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCA... |
Task1_train_23054 | A variant was discovered on Chromosome 16, affecting GALNS (galactosamine (N-acetyl)-6-sulfatase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGT... | TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGT... |
Task1_train_23055 | Given a variant located on Chromosome 16 and affecting GALNS (galactosamine (N-acetyl)-6-sulfatase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Morquio syndrome | TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGT... | TTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCAACGTCCGCAGGTCACCGCCCGGCCACAGGGGACACTCGTGCTTCCACGT... |
Task1_train_23056 | A variant on Chromosome 16 in gene GALNS (galactosamine (N-acetyl)-6-sulfatase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCC... | GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCC... |
Task1_train_23057 | Given a variant located on Chromosome 16 and affecting GALNS (galactosamine (N-acetyl)-6-sulfatase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCC... | GAGCTCTGGGTCACTGTGGGGCTTGTCACTTGGAGAGGCCACCGGCTCTTCCTCCTGTTGGCACAGTACTCACGCGCTCCAGTGGCCCTCGGGGGCTGACTTCCGCCATGGCCCCTGGCACTGGCTCAGGGACTATGCAGGCTGCGTGGGGCCCAACCTCCCTGTGTGAGGACTCTGCAGCTGCTGTGCCCATCAGCTCTGCCCTGTGCTTTCTGAGAGCTCAGCTCGGCAGGCTGCTTCCTCTCATCTGAAGAATGATGAAGTGCTCCCTAGACAGCCTCTGGGTCCTCCTCATCCAGTGATCAAGCTCAGCAAATTCC... |
Task1_train_23058 | Located on Chromosome 16, this mutation impacts GALNS (galactosamine (N-acetyl)-6-sulfatase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not specified | GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCA... | GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCA... |
Task1_train_23059 | A variant found in Chromosome 16 affects GALNS (galactosamine (N-acetyl)-6-sulfatase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCA... | GTGGCAGGAGGCAGCCGGGGGGCAGTGGTGGCGGGTGCTAGGGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCA... |
Task1_train_23060 | This variant lies on Chromosome 16 and affects the gene GALNS (galactosamine (N-acetyl)-6-sulfatase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | GGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAA... | GGGCTGTGACTCGAGGGATGACGGTGACAGGCCTGCGGAGTCTGATGCCGCAGGATACTCGCGGCCGTGGGACCAGCCTGGTGACCTGAGATCCTGCTGGCAAGGTCACGCTGGCCTGCACAGGGACGCTGGAGACACCTGAACACACCCAGAATCAGCTGCCGTTTCCCACCCAAGACACCCTCCTCATTTGGAAACTTGTGGCCATGTCCCTTGGAACCAAGGCCAGGAAGTGGATGGAGCAGGACGCCTGGGCAGGCGTGGCCAGGAGACTTACCACTTGCCGACAATCTTGCTGACGTAGCCGGCCTTCTTCAGAA... |
Task1_train_23061 | This variant lies on Chromosome 16 and affects the gene GALNS, LOC130059762, TRAPPC2L (galactosamine (N-acetyl)-6-sulfatase| ATAC-STARR-seq lymphoblastoid silent region 7883| trafficking protein particle complex subunit 2L). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does i... | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | TGGCCAGTTCAGAGGCAGCAGAGCCACGAAAGGGGAAACTCGCCAGGCGGCCCTGGTCTGTCGACTCAGGAGGGCCAGGGAATCCCCACTGTTGCTTGTCACTTTGACTTCATCTTCTGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACG... | TGGCCAGTTCAGAGGCAGCAGAGCCACGAAAGGGGAAACTCGCCAGGCGGCCCTGGTCTGTCGACTCAGGAGGGCCAGGGAATCCCCACTGTTGCTTGTCACTTTGACTTCATCTTCTGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACG... |
Task1_train_23062 | This mutation occurs in GALNS, LOC130059762, TRAPPC2L (galactosamine (N-acetyl)-6-sulfatase| ATAC-STARR-seq lymphoblastoid silent region 7883| trafficking protein particle complex subunit 2L) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Mucopolysaccharidosis, MPS-IV-A | TGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTCCACATGCAATTCCCTATTTACCGGGAGCCACATTAGAAAAGCAGAAGTAGGTGAAATACAGACTAACTTTATATTTT... | TGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTCCACATGCAATTCCCTATTTACCGGGAGCCACATTAGAAAAGCAGAAGTAGGTGAAATACAGACTAACTTTATATTTT... |
Task1_train_23063 | This variant affects gene TRAPPC2L (trafficking protein particle complex subunit 2L) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | CTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTCGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCATGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCC... | CTCACCTCTCCCCCCACCCCGCCCGCCCTTCCCCCACCTCGCTCCTCCCTCCATCCGCCCCTCCCCTCCCCGCCCCACCCCGGCCCTGCCCCGTCCCACCGCCCGCACTCACGTCGTCCATGAGCAGGAGCAGGATGTTGGGGGGCTGCGGGGCGCCCGAGGCCCCCATCCCCGCGGCGCTGAGCACCAGCAACAGCTGCCACCACCTCGTCGCCGCGACAACCGCCGCCATGGCAACCACGGGAGCCGCGGAGCCCCGGCCAGCGAGCCGACCTAGCGAGCGTCCGCCGGCCCTTCCGGCTGGGCTGCGGGGCGGGGCC... |
Task1_train_23064 | Here’s a variant in ACSF3 (acyl-CoA synthetase family member 3) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Combined malonic and methylmalonic acidemia | GCAGAATGCATGTTGCAGAATTGGACCAGCCCTCACGCGTCAGGAGCGTTGGGCCCACAGGCGGAGGCACCCTGGCTTCTTCTCGGTCTCCTTTCTCTGAATGAAGAATTCCAGTGGACGGCGGGCCCGCGCGACCCCTCCCAGGGAGCCCTCGCTTCCTGCTGATTTATTTGTTATTTAGTAGTTAAGTTTTTGGGGGGAAAGGAGAGAATTATAGTTCAACCTAAAACACGTTTTCTAGCTCTGTGAATTGCCTGATTTAAAGCTTGGCTTGGCTGGGTGCAGTGGCTCACACCTGTAATTTCAACACTTTGGGAGGC... | GCAGAATGCATGTTGCAGAATTGGACCAGCCCTCACGCGTCAGGAGCGTTGGGCCCACAGGCGGAGGCACCCTGGCTTCTTCTCGGTCTCCTTTCTCTGAATGAAGAATTCCAGTGGACGGCGGGCCCGCGCGACCCCTCCCAGGGAGCCCTCGCTTCCTGCTGATTTATTTGTTATTTAGTAGTTAAGTTTTTGGGGGGAAAGGAGAGAATTATAGTTCAACCTAAAACACGTTTTCTAGCTCTGTGAATTGCCTGATTTAAAGCTTGGCTTGGCTGGGTGCAGTGGCTCACACCTGTAATTTCAACACTTTGGGAGGC... |
Task1_train_23065 | Gene ANKRD11 (ankyrin repeat domain containing 11) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; KBG syndrome | TCACATGTTCTCTCTCACTTGTGGGATCTAAAAATCAGAACAATTGAGCTCATGGACACAGAGTAGAACGACGGTTACCAGAGGCTGGGAAGGGTTGTGGGGGGCTGGCAGGGAGGTAGAAGTGGTTAATGGGTACCAAAAAAAAAAAAAAAAAAAAGAATGGATAAGACCTACTATCTATCTGACAGCACAATAGGGTAACTGTAGTCAATAGTAACTGCATTGTGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAG... | TCACATGTTCTCTCTCACTTGTGGGATCTAAAAATCAGAACAATTGAGCTCATGGACACAGAGTAGAACGACGGTTACCAGAGGCTGGGAAGGGTTGTGGGGGGCTGGCAGGGAGGTAGAAGTGGTTAATGGGTACCAAAAAAAAAAAAAAAAAAAAGAATGGATAAGACCTACTATCTATCTGACAGCACAATAGGGTAACTGTAGTCAATAGTAACTGCATTGTGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAG... |
Task1_train_23066 | This alteration occurs within gene ANKRD11 (ankyrin repeat domain containing 11) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; KBG syndrome | TGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAGAGGGAAGTAATGCTTCCTTGGAAGGTGTTAGAGGCACGAGCTGGTCCTCCTCATTTTTGCTCTGTACAGAGCTGTCCTGACTGCCTGTCCATCACAGCCTCTCACCTGCGGTACAAGAATGCAAACTTATCAGCATCCAGCCCCCAAAGCACCATTTGGTCCAACTCATGTTTTCTTTAAAGAAAATCTGTCGGCTGGGTGCGGTGGCTCACGCCTGTAACTCCC... | TGTATTTTAAAATAACATATAAGAGCGTTAACTGGATTGTTTGTAACTCAAGGGCTAAATGCTTGAGGGGATGGACACCCATTGGAGAAATAAAGAGGGAAGTAATGCTTCCTTGGAAGGTGTTAGAGGCACGAGCTGGTCCTCCTCATTTTTGCTCTGTACAGAGCTGTCCTGACTGCCTGTCCATCACAGCCTCTCACCTGCGGTACAAGAATGCAAACTTATCAGCATCCAGCCCCCAAAGCACCATTTGGTCCAACTCATGTTTTCTTTAAAGAAAATCTGTCGGCTGGGTGCGGTGGCTCACGCCTGTAACTCCC... |
Task1_train_23067 | An alteration has been detected in ANKRD11 (ankyrin repeat domain containing 11) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; KBG syndrome | GGGGAGCTTCTGTTTATTTTTCTTATCTTGCGTGGAGTCCACTGAGGCTCTGTCCTTCCTGTCCTTGTACTTTTCTGTGGACTCTTTATCCTTCTTCTCCTTGTGCTTTTCAAAGACTTTCTCTTTTTTGTCTCTCCCCGCGTCGGCAGCCCCTCGGTCCTTTCTCCTGTCTCTGGGCTCCTTGTCCTTCTGCCTCTCAGGGTGCTGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCGTCCGTCCTCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGC... | GGGGAGCTTCTGTTTATTTTTCTTATCTTGCGTGGAGTCCACTGAGGCTCTGTCCTTCCTGTCCTTGTACTTTTCTGTGGACTCTTTATCCTTCTTCTCCTTGTGCTTTTCAAAGACTTTCTCTTTTTTGTCTCTCCCCGCGTCGGCAGCCCCTCGGTCCTTTCTCCTGTCTCTGGGCTCCTTGTCCTTCTGCCTCTCAGGGTGCTGCTTGTCAGAAGACTTCCTGTGTCTGTCGGAGGCATAGGCCTCCCGTCCTTCCTCCTTCTCCTGGAGGCCGTCCGTCCTCGGCAAGTCGCTGGCCTCTCCCATCTTGAACCCGC... |
Task1_train_23068 | This variant affects gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary spastic paraplegia 7 | GCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCCCCACGCTGCAGGTCAGAGCCAGGATCCCAGCCTCTCCCACTCCACCTGGGCCGCCCCCACTCGCTCTGAGTGGTCTGGCCTCTCCTCTAAGACACTTCTTGGTGTGAAGCCTGTCACAGCCCCACAGGTGCTGGCAGTGTCCAGCGTGGCCCCCGCATCGGCTGCACGCCCCCAGCAGACCTGCCCACCGGCTGCACTCACTGCTGTGGCCCCCACATTGGCTGCACGCCCCCTGGCAGACCTGCCCAATGGC... | GCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCCCCACGCTGCAGGTCAGAGCCAGGATCCCAGCCTCTCCCACTCCACCTGGGCCGCCCCCACTCGCTCTGAGTGGTCTGGCCTCTCCTCTAAGACACTTCTTGGTGTGAAGCCTGTCACAGCCCCACAGGTGCTGGCAGTGTCCAGCGTGGCCCCCGCATCGGCTGCACGCCCCCAGCAGACCTGCCCACCGGCTGCACTCACTGCTGTGGCCCCCACATTGGCTGCACGCCCCCTGGCAGACCTGCCCAATGGC... |
Task1_train_23069 | Consider a variant on Chromosome 16 in gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary spastic paraplegia 7 | GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAG... | GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAG... |
Task1_train_23070 | Gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Hereditary spastic paraplegia | GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAG... | GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAG... |
Task1_train_23071 | Gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Inborn genetic diseases | GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAG... | GAGGGCTGCTGCCGCCCGTGGCTGTGGAGGGACAGCCGTGCTTTCAGCGCAGCAGGGGCTCTGCGGAGAGGTGTGGATCTGCAGCACCACCTCTGGTGAAACTCATGGTCCCGACCGTCAGTAGGAACGGGAGATGAGTTTTGGTGACGGGTGACCGGTGGGCTGACCGCCTCTGACTGCCGTTCCGTGGCTGCTCAGTGTGGGGTCTGCGACGTCTGTGAGGAGAGAGGACCAAACTGGGAATCGGAGCTGCTGGAGGTTTCCATAGCTATGATGGCAACACCCAGACGTGATCAGTCATCTCATGGAATGGAGTTCAG... |
Task1_train_23072 | Here is a mutation in SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hereditary spastic paraplegia 7 | GGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTT... | GGCGTGGTGGTGCGTACCTGTAACCCTAGCCACTTGAGAGGTAGAGGCACAAGAATCGCTTAAACCCGGGAGGCAGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTT... |
Task1_train_23073 | Gene SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hereditary pancreatitis | AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCT... | AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCT... |
Task1_train_23074 | A variant was discovered on Chromosome 16, affecting SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hereditary spastic paraplegia 7 | AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCT... | AGAGTCTGCAGTGAGCCAAGACTGTGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTGTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCT... |
Task1_train_23075 | This is a variant in SPG7 (SPG7 matrix AAA peptidase subunit, paraplegin), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Hereditary spastic paraplegia 7 | GTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGC... | GTCTCTCAAAGGGAAAAAAAAAGAATTTTTACTGTATTTGATGGGCAAAAGTCAGATAGTCACAATGAAAAAGTGAGTCTCTTTCCCAAGGCTCAGTGTCCTGCCAGGAAAAGGTTGTGAATTGGCTGTTATGGTTTTGGTCATTAATGCAATCATCACTGCAGCCGTTATTTAGAGCTTCTTTTTGTTTTGAGACAGGGTCTCTCTCTCTGTTGCCCAGACCGGAGTCCAGTGGTGCGATCACAGCTCACTGCAGCCTCGACCTTCCGGGCTCACACGATCCTCCTACCTCAGCCTCCTGCATAGCTGGGACTACAGGC... |
Task1_train_23076 | This variant affects gene RPL13 (ribosomal protein L13) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | TGCGCGCGCCCGGGGTCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTG... | TGCGCGCGCCCGGGGTCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTG... |
Task1_train_23077 | This mutation occurs in RPL13 (ribosomal protein L13) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCA... | TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCA... |
Task1_train_23078 | Located on Chromosome 16, this mutation impacts RPL13 (ribosomal protein L13). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Spondyloepimetaphyseal dysplasia | TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCA... | TCCGGCCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCA... |
Task1_train_23079 | The following genetic variant occurs in RPL13 (ribosomal protein L13) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Spondyloepimetaphyseal dysplasia, Isidor-Toutain type | CCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGT... | CCTCTCACTCGCTCCCCTCTCGTCCGCAGCCGCAGGGCCGTAGGCAGCCATGGCGCCCAGCCGGAATGGCATGGTCTTGAAGCCCCACTTCCACAAGGACTGGCAGCGGCGCGTGGCCACGTGGTTCAACCAGCCGGCCCGTAAGATCCGCAGGTGAGCCCTGCGCTCGGGGCTGCCCCTGGGGCTCGTGCCCGCGGCTGCGCCTTGGCTTGCGGGTGGCCGATGCCAGGGCGGGGGGCGCTGTCTGCAACCGTCGCGGAGCGCTGGCCTGGCGGCCTTAGGCAAGGGTGACCGCCGCTGCGCTTCTCTCCACCAGACGT... |
Task1_train_23080 | A mutation in CHMP1A (charged multivesicular body protein 1A), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Inborn genetic diseases | CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCC... | CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCC... |
Task1_train_23081 | Given this context: Chromosome 16, gene CHMP1A (charged multivesicular body protein 1A) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCC... | CAAAACCCCAACTCTGGGCTGAGCCATCATCTGGGTCCTATGGAAAGACCACCAACTCGACGGAAAAGGCCATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCC... |
Task1_train_23082 | This gene mutation involves FANCA, ZNF276 (FA complementation group A| zinc finger protein 276) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Fanconi anemia | GGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCT... | GGCAACAGAGCAAGACTCAAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCT... |
Task1_train_23083 | Here is a mutation in FANCA, ZNF276 (FA complementation group A| zinc finger protein 276) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Fanconi anemia complementation group A | AAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATAC... | AAGTCTCAAAAAAAAAGAACAGCGTAGAGTAAAATGCCAAGATAGGGTTTCCCTTCGAAGAGAAAAGTCTGTCTTGTGAAGCGTTTCAGGGCTTGACAGATGTGGAGGCAGCACAGGGTGAGTGGGTCTGCATGTCCACATGTGGCATTTGTGGACTAGCAAGTGAGATCTCTTTGTTCAAGGGTGTGAGAAAGATTTCCAGAGCCAGTACAGCAATGCATACCCCCAGACCCTGGGTATGGACCCCTCTCATATGGAGATGAATTCTAGAGAACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATAC... |
Task1_train_23084 | An alteration has been detected in ZNF276, FANCA (zinc finger protein 276| FA complementation group A) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Fanconi anemia complementation group A | ACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCA... | ACAGCCATAGCTGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCA... |
Task1_train_23085 | Chromosome 16 houses a mutation in gene FANCA, ZNF276 (FA complementation group A| zinc finger protein 276). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Fanconi anemia complementation group A | TGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAAC... | TGTGACAATCAGTATTCTATACAACCTTAGTGATACGGCTTCCTTTAAGAATTTGTAGGCCAGGCACGGTGGCTCACACATGTAATCCCAGCACTTTGGGAGACCGAGGCAGGCAGATCACAAGGTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGTAAACCCTGTCTCTACTAAAAATACAAAAATCAGCTGGGCGTGGTGGGGGGCGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCACAAGAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAAC... |
Task1_train_23086 | This sequence variant lies in ZNF276, FANCA (zinc finger protein 276| FA complementation group A) on Chromosome 16. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Fanconi anemia complementation group A | GAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTC... | GAATCGCTTGAGCCTGGGAGGCGCAGGTTGCAGTGAGCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTC... |
Task1_train_23087 | A variant was discovered on Chromosome 16, affecting FANCA, ZNF276 (FA complementation group A| zinc finger protein 276). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Fanconi anemia complementation group A | GCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCA... | GCTGAGATCACGCCACCGCACTGCAGCCTGGGTAACAGAGCGAAACTCCATCTCAAAAAAAAAAAAAGACAAGAATCTGTGGTTAAGGAAATAGCTTTCTGAGGTTTCTTTAAAAACCATCCTGAAATGCACACAGCTGATGAAGCCACGTGACAGTGTATAAAGCAGTTTAAAGATCTTAATAAACGAGGCCCTCATAGGCCCCTTGCTTGGGCCCACTGCATGGTGAACCATGTGCAGAAATGTCTTCCCAGCTGTGATGGTTTCACATTGTCATCGTCGTCCCCCCGGGAGGTTGGAGCATCAGGGGCCTGGACTCA... |
Task1_train_23088 | This alteration in FANCA, ZNF276 (FA complementation group A| zinc finger protein 276) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Fanconi anemia complementation group A | TTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACT... | TTGCCAGCCAGGCAGGCACATGGCCCAGGCAGCTGTCAATTCTCATGTCCCCCACATGGCCCAAGGTGGGCATCTTGACGTTACCTCTGCCACGTGTGAGAAGCTCTTTTTCGGGCACCGAGGTATTAACTGCAGCAGAAAAAGACGAGCTTTTGTTATCAGTTCCACGGGGTTGCCCTAGAGAGAAAACAGGCAAACTCACAGGTTAGAAGACATACAGAAACAGGGCTGGTGTGTCCCCCATAGTCTGCATGCTGTGCCGGAACATTCTTTGGCAGAAGGAGCCTCCGGCTGGGGGGAGCTCCCCTGGAGGTGGGACT... |
Task1_train_23089 | A mutation found in FANCA (FA complementation group A) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Fanconi anemia complementation group A | AGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAA... | AGAGGACACCTTGGCTGGTAAGGTCTGACTTACATTTGAGGTCAGATGTGACGACAGCAGGCCCATCAAGGAGAAGAAGAAAAGGAAAACCAATAGCTGTAAATAAAAACGTGCACTTATTATTACATTAAAATTACCTGTGCTGTCATTCTAAATAAGGCTGACACATTCCTCTTTAATTGAAATTTTTTACATCTAGGCCATAAATCCTTTAAGTGGATCTTAGAAAACTTTCCAATCACTTCTAGAGAGACAGCTTAATTGAGAATTAATTACTACTGGCTGGGTCATTTCACACTTGCCTTTAAACAAAGCTAGAA... |
Task1_train_23090 | Chromosome 16 houses a mutation in gene FANCA (FA complementation group A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Fanconi anemia complementation group A | AGGGGAGAGGAAACTGGGACAGAGAGAACGGGGTCATTGCAGGGCCTTACAACCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAG... | AGGGGAGAGGAAACTGGGACAGAGAGAACGGGGTCATTGCAGGGCCTTACAACCATACAACCACGCCATAGAAACCAAGTCCTTATTCCCACCTGTCACCTTTGGGGCCTGCCTTTCCATCAGAGGACAGAGAAGGGTTTCAGGACCATCAGAAACTAGGTCTGCATCCCCCAGGTCCACGTGAGAGTGTGGGCAGGTGCTGGTGCTGCCCCCACAGCATCCTGGCGTTCTGAGAGCTGCTGACTGAGCAGGCAGCTGGCCTGGTCCTGTCTACCTTGCCCTGTGCTCTTGGGCCCCAGCTGCCTACATTTTGGAAGAAG... |
Task1_train_23091 | A variant was discovered in gene FANCA, LOC132090450 (FA complementation group A| Neanderthal introgressed variant-containing enhancer experimental_46718), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Fanconi anemia complementation group A | CACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTC... | CACCACCACGAGAACTCGGTTCTTTTCTCCCTGCTCACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTC... |
Task1_train_23092 | The variant affects gene FANCA (FA complementation group A), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Fanconi anemia complementation group A | ACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTA... | ACACGAGAGGCTGCCCACACCGCTTCTCTCAAGCAAGCCAGGGTGTTTAGGAGATGACCTTGAGCAGGTCCCGAAGTGCATCTGGGCGGGCACACCCCATCTCACCACCCACACGTACTCGCTGGCAAACTGCCGGCCTTCTTGTAGCTTCTGCAGTTCCCGGGGCAGCGGGCTCTGGCAGTGTCTCCTCCACCGGCAGAGCAGCACAGGCTCCAGGCTCGGCCACCACACCTATGGAGAGAGCACCAGCACACAGATGAGGGTGGCTGAGATGGACACACCTCCGCTGCCCCAGCCATGACAAGCCCCCAGTGCTCCTA... |
Task1_train_23093 | Consider this mutation in FANCA (FA complementation group A) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Fanconi anemia complementation group A | AGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACAT... | AGTATGAAGTCGACCATCAGGGAGGGGTCTCTGCTCCGCAGACAGGCGTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACAT... |
Task1_train_23094 | Gene FANCA (FA complementation group A), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Fanconi anemia | GTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAG... | GTTCAGGAGGCCCTGCAGGAGAGAACGCAGCAGGAGGTCAGCGGTTTGTGAGGACCCACAACTAGTAGAGTGAAGGAACTCACAGGAAGCTGACAGGAGGATCCACCCACGGCGTTCTGAGAAGGCCACGAGAGGGGCTGAGGGAGCATCTCACCCTGAAGAAGTGGGCAGTGATGTCCTGTGTCAGGGCACCTCCGTGGGAGCAGAAGTTTCTCTGCAAAAGAGTTCAAGGCAGGTAAGAAAAGCCCACAGGAAGAGAGGCGAGACCAACATGCAGAGTGGCTGCTGTGGATTCAGTTTTGAGAAAAACACTCGCTAAG... |
Task1_train_23095 | A genomic change on Chromosome 16 affects FANCA (FA complementation group A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Fanconi anemia complementation group A | CAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCT... | CAGAGCAAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAAAATATAAAATGCTGCACAGCTGGCATGGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCT... |
Task1_train_23096 | This variant affects gene FANCA (FA complementation group A) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Fanconi anemia | GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCT... | GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCT... |
Task1_train_23097 | This variant impacts the gene FANCA (FA complementation group A) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Fanconi anemia complementation group A | GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCT... | GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCT... |
Task1_train_23098 | Located on Chromosome 16, this mutation impacts FANCA (FA complementation group A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; FANCA-related disorder | GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCT... | GGAACCTGAATTCCATCTCTCACATTTGTGCATCTTCAAAAACAAGAAAAAGGCCTTCGGGAGCAGAAGCTGCTCTCTGTAGAGTGGGAGGGGCTGGTATCCGTCTCCCCAGCTCTGACCAACTGGGTCCCTACGCTGCCCGTCCCCACAGCGAGTGTCACTTCTTTTTATTTGAGACAAGAGTTTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCAGTGCAACTCTGCCTCCTGGGCTCAATTACTCCTCCTGACCCAGCCTCTCAAGTAGGTGGGAGTACAGGCGTGCACCACCATACCCAGCT... |
Task1_train_23099 | Given this variant in gene FANCA (FA complementation group A) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Fanconi anemia complementation group A | ACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGG... | ACCCACGCTGTGCGGGACCGGGGTGCTCCACCCACGCTGTCCGGGACCGGGGTGCTCCACCCACGCTGTCCGGAACTGGGGTGCTCCACCCACACTGTCTGGAACTGGCACAGAATGTATCTAAGTATCACTTAAGTAATTCAGAAAAGAAAGAAAATCCCGCAACACATCTCAACACAACTTCCACGCAGCGGTGACCTGATGCAGCATGACCTCATGCAGCAGACAAGCCCCTCCCTCTGACCTCCTCCTTAGACTCCACCCCAGAGAGCAGCCGGGAGGAGAAACGGGGGTGAGTGAAGGAAGCGCCTGCAGAGCGG... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.