question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
The mutation impacting FOXC2 (forkhead box C2) on chromosome 16 at position 86568257: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | CTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATT... | CTCCTCGGCGGGGAGCGAGGGAAACTCAGTTTGTAGGGTTTACCTCTAAAACCTCGATAGGTTATCCTTGACGACCCCGAGCCTGGAAACTCCCTGTTGATGATTAATTATTTGATTAAATAAGTATAACATCCAGGAGAGGCCCTGCCATTCCAATCCAGCGCGTTTGCTTTGAATCCATTACACCTGGGCCCCCATAATTAGGAAATCTAATTATTCGCTTCATCACTCATTAATAAGAAAAATGTCCCAGGATCATTGCTACTTACAAGGTCTTTGGGAGAGATATTTTACTCTATTAATCCATTCTATTTTATATT... | pathogenic | 256,545 |
Variant in ZNF469 (zinc finger protein 469), chromosome 16, position 88428636—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Brittle_cornea_syndrome_1', 'Cardiovascular_phenotype'] | CTGGAGGCTGGGGGCTTCCTGGAGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGGGAGTCCCCGCTTGGAACCAGCCGCCCAGGCCCTGAGAGGTTCAGGTTGAGCCTCTGCTGCCTCAGTCCCCTATGTCCTGCAACGCAGCCTCCTGCCTCAAGGCCCTCCCCATGGCAGGTGTAAGCA... | CTGGAGGCTGGGGGCTTCCTGGAGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGATCTGGAGGTTACCCTGTAAGGCCTGGTGGCAGGGAGACCCTGGCTGACGGCAGGGGAGTCCCCGCTTGGAACCAGCCGCCCAGGCCCTGAGAGGTTCAGGTTGAGCCTCTGCTGCCTCAGTCCCCTATGTCCTGCAACGCAGCCTCCTGCCTCAAGGCCCTCCCCATGGCAGGTGTAAGCA... | pathogenic | 256,694 |
The mutation in gene ZNF469 (zinc finger protein 469) at chromosome 16, position 88428999—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | GCAGTTCCTGCAGGCTGAGAGCTTGTGCCCCACACAGGTGCCTGTCCTCTCCACAGCCTGGCCGAGGACTGCTCTGAGCCTGTAAGCGGCCTCCTCACACCCCAGAAAGCTCCCCCTCCCTCCCCCTCCACTCAATCTCTGCGCTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAG... | GCAGTTCCTGCAGGCTGAGAGCTTGTGCCCCACACAGGTGCCTGTCCTCTCCACAGCCTGGCCGAGGACTGCTCTGAGCCTGTAAGCGGCCTCCTCACACCCCAGAAAGCTCCCCCTCCCTCCCCCTCCACTCAATCTCTGCGCTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAG... | benign | 256,717 |
Determine whether the variant at chromosome 16, position 88429142, in gene ZNF469 (zinc finger protein 469) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic | CTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAGAGCCTAGAAGCTCCCTGTCTAGGCGAGGGCCACCCAGCCCCTCTGCCCCACTCACCCCTGACCTTTCCTTCCAGGCTCCACTCAGGACCATGAGCGCAGGCTTCCCTGGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCC... | CTCCACCGCCCCTCTTCTCCCTAAGACAGGGAAGGGTCCCTGTTCCATCTGGCGGGATGCCCTCTCCCTTCCTGCTTCTAGGTAGGGGCTGAGCCGAGCATCCCTTCTAAGCGCGGAGCTTCTGTGATGGCTGCACGCAGCCTCTTCTGCTTCTGGCCCGGCCACACCCGCATGGAGAGCCTAGAAGCTCCCTGTCTAGGCGAGGGCCACCCAGCCCCTCTGCCCCACTCACCCCTGACCTTTCCTTCCAGGCTCCACTCAGGACCATGAGCGCAGGCTTCCCTGGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCC... | pathogenic | 256,724 |
Variant chromosome 16, position 88429426, gene ZNF469 (zinc finger protein 469): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype'] | GGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCCACTCCCCAGGGCCCCCCTCGGACAGCTGCGTCGTCCTAGCGCCAGGACGGAGGGGCCATGCCTGGGGAGCGCCCCCGAGGAGCGCCGCCCCCCACCATGACTGGAGACCTGCAGCCCCGCCAAGTTGCCAGCAGCCCGGGGCACCCCTCCCAGCCGCCACTGGAGGACAACACCCCAGCTACCAGGACCACCAAGGGTGCCAGGGAGGCTGGCGGCCAGGCCCAGGCCATGGAGCTCCCCGAGGCCCAGCCAAGGCAGGCCAGGGACGGGGAGCTCAAGCCCCC... | GGGGCCCATCGAGGGCTGAGGATGGCCGTCCAGCCCACTCCCCAGGGCCCCCCTCGGACAGCTGCGTCGTCCTAGCGCCAGGACGGAGGGGCCATGCCTGGGGAGCGCCCCCGAGGAGCGCCGCCCCCCACCATGACTGGAGACCTGCAGCCCCGCCAAGTTGCCAGCAGCCCGGGGCACCCCTCCCAGCCGCCACTGGAGGACAACACCCCAGCTACCAGGACCACCAAGGGTGCCAGGGAGGCTGGCGGCCAGGCCCAGGCCATGGAGCTCCCCGAGGCCCAGCCAAGGCAGGCCAGGGACGGGGAGCTCAAGCCCCC... | pathogenic | 256,753 |
A genetic variant at chromosome 16, position 88430089, affecting gene ZNF469 (zinc finger protein 469)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TTTACCTCCACCAACTATACCTCACCAAGCGCCACCCCCAGGCCCCCAGCCCCGGGGCCCCCCCAGAGCAGGGGCACCAGCCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATT... | TTTACCTCCACCAACTATACCTCACCAAGCGCCACCCCCAGGCCCCCAGCCCCGGGGCCCCCCCAGAGCAGGGGCACCAGCCCCCTCCAGCCCGGTTCCTATCCCGAATACCAGGCCAGTGGGGCCGACTCCTGGCCTCCCGCTGCTGAGAATAGCTTCCCAGGTGCTAATTTCGGGGTTCCCCCCGCCGAGCCGGAACCTATTCCCAAAGGCAGCAGGCCCGGCGGCAGCCCCAGGGGAGTTTCCTTCCAGTTCCCCTTCCCGGCACTGCATGGGGCCAGCACAAAACCCTTCCCTGCGGATGTGGCTGGGCACGCATT... | benign | 256,804 |
Clinically, how would you classify the variant at chromosome 16, position 88430501, gene ZNF469 (zinc finger protein 469): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Brittle_cornea_syndrome_1'] | CCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCC... | CCCAGCCTGCGCCCTCACCCCTGCCCTGCTACCAGGGCCAGCCAGGTGGCCTGAACCGCCACAGCGACCTCAGTGGTGCCCTCTCTTCCCCTGGAGCTGCTCACTCGGCCCCGAGACCCTTCTCTGACAGTTTACACAAGAGCCTGACCAAAATCCTTCCCGAAAGACCACCTTCAGCCCAGGATGGGCTGGGGAGCACGAGAGGGCCCCCTAGCTCCCTACCCCAGAGGCACTTTCCAGGGCAGGCGTACAGAGCCAGTGGGGTGGACACCAGCCCGGGGCCTCCGGACACCGAGCTGGCCGCCCCAGGGCCCCCACCC... | pathogenic | 256,832 |
Mutation found at chromosome 16 position 88431223, gene ZNF469 (zinc finger protein 469): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Brittle_cornea_syndrome_1'] | CAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGG... | CAGGTTTCACCCCACGGGACACCCAGCCTGCCCCCACCGAGGGTAGTGGGAGCCTCCCCCAGCGAGTCCCCACTGCCGTCACCGGCCACCAACACGGCCGGCAGCACCTGCTCTTCCCTGTCGCCGATGTCCAGCAGCCCAGCCAACCCCAGCTCAGAGGAAAGCCAGCTCCCCGGCCCCCTCGGGCCCTCGGCCTTCTTCCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGG... | pathogenic | 256,882 |
Considering the genetic mutation at chromosome 16, position 88431423, impacting ZNF469 (zinc finger protein 469): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic | CCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCA... | CCACCCACCCACTCACCCCCAGGAGACGGGCAGCCCCTTCCCGTCCCCGGAGCCCCCCCACTCCCTCCCCACCCACTACCAGCCAGAGCCAGCCAAGGCCTTCCCTTTTCCCGCAGATGGGCTGGGAGCCGAGGGTGCCTTCCAGTGCCTGGAGGAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCA... | pathogenic | 256,897 |
Is the variant located on chromosome 16 at position 88431577, gene ZNF469 (zinc finger protein 469), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Brittle_cornea_syndrome_1'] | GAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCAGCCTGGCGGCCTTCCTGGCCCACCGGCAGTTCTGTGGCCTGCTCCTGGCCAGGGCCAAGGATGGCCACCAGCGGTCTCCAGGCCCCCCTGGGCTCCCCTCGCCCCCCGCTGCCCCCAGAGTCCCTGCCGACGCACACGCGGGCTTGCTCAGCCA... | GAGACCCCATTCCCCCACGAGGGCCCCGAGGTGGGTCGGGGAGGGCTGCAGGGCTTCCCCCGTGCGCCGCCTCCGTACCCCACACACCACTTCTCCCTCAGCAGCGCCAGCCTGGACCAGCTGGACGTGCTGCTGACCTGCAGGCAGTGTGACCGCAACTACAGCAGCCTGGCGGCCTTCCTGGCCCACCGGCAGTTCTGTGGCCTGCTCCTGGCCAGGGCCAAGGATGGCCACCAGCGGTCTCCAGGCCCCCCTGGGCTCCCCTCGCCCCCCGCTGCCCCCAGAGTCCCTGCCGACGCACACGCGGGCTTGCTCAGCCA... | pathogenic | 256,907 |
Variant at chromosome 16, position 88432350, gene ZNF469 (zinc finger protein 469): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Cardiovascular_phenotype'] | GCAGAGGAGGGGGAAGCAGTTGAAGCTGTTCCGGAAGGATCTGGACTCGGGCGGCGCAGCAGAGGGGTCGGGGTCGGGCGGCGGCGGCAGAGCCTCCGGCCTGAGGCCCCGGAGGAACGACGGTCTCGGGGAGCGGCCCCCACCCCGTCCCCGGCGCCCTAGAACGCAGGCCCCCGGGAGCCGCGCAGACCCCGCGCCCCGGGTCCCGAGAGCCGCCGCCCTCCCCGAGGAGACCCGCAGCTCCCGGCGCCGCCGGCTGCCCCCCAGGAAGGACCCCAGGAAGAGGAAGGCTCGGGGCGGCGCCTGGGGCAAGGAGCTCA... | GCAGAGGAGGGGGAAGCAGTTGAAGCTGTTCCGGAAGGATCTGGACTCGGGCGGCGCAGCAGAGGGGTCGGGGTCGGGCGGCGGCGGCAGAGCCTCCGGCCTGAGGCCCCGGAGGAACGACGGTCTCGGGGAGCGGCCCCCACCCCGTCCCCGGCGCCCTAGAACGCAGGCCCCCGGGAGCCGCGCAGACCCCGCGCCCCGGGTCCCGAGAGCCGCCGCCCTCCCCGAGGAGACCCGCAGCTCCCGGCGCCGCCGGCTGCCCCCCAGGAAGGACCCCAGGAAGAGGAAGGCTCGGGGCGGCGCCTGGGGCAAGGAGCTCA... | pathogenic | 256,967 |
Does the variant impacting ZNF469 (zinc finger protein 469) on chromosome 16, position 88433907, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Brittle_cornea_syndrome_1', 'Cardiovascular_phenotype'] | ATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCG... | ATTCGACCCACCCCTCTATGGCAGCCTGTCTGCGAACAGGGACTCCGGTCTGCCGTTCGCATGTGCCGACCCTCCCCAGAAGACGGTGCCGTCAGATCCACCGTACCCCTCTTTTTTGCTGCTTGAGGAAGTATCCCCGATGCTGCCTAGCCATTTTCCTGATCTCTCGGGGGGAAAGGTGCTCAGTAAGACGTGTCCCCCTGAACGGACAGTGGTTCCCGGCGCCGCCCCATCTTTGCCTGGGAAGGGGAGTGGATGTAGCGTTGCTCTTATGAGTCACCTGTCCGAGGATGAACTGGAGATCCAGAAATTGGTCACCG... | pathogenic | 257,057 |
Variant in gene ZNF469 (zinc finger protein 469), located at chromosome 16 position 88435104: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Cardiovascular_phenotype'] | CTCCTCACTGACTGCCCCCCGGGGCAGGGAGGCTTGGTTGGTCCCTGTGCCAAGTCCCGCCTGTGTATCCAACACCCACCCTAGCAGGAGGTCCCAGGACCCAGCTTTGAGCCCCCCCATACGTCAGCTCCAGCTCCCAGGGCCTGGAGTGGCTAAGAGTAAAGATGGCATCCTGGGCTTGCAGGAGCTGACACCTGCTGCCCAGAGCCCTCCACGAGTGAACCCCTCAGGTCTGGAAGGGGGCACTGTGGAAGGAGGGAAGGTGGCCTGTGGCCCCGCCCAGGGCTCCCCAGGGGGTGTGCAGGTGACAACTCTCCCTG... | CTCCTCACTGACTGCCCCCCGGGGCAGGGAGGCTTGGTTGGTCCCTGTGCCAAGTCCCGCCTGTGTATCCAACACCCACCCTAGCAGGAGGTCCCAGGACCCAGCTTTGAGCCCCCCCATACGTCAGCTCCAGCTCCCAGGGCCTGGAGTGGCTAAGAGTAAAGATGGCATCCTGGGCTTGCAGGAGCTGACACCTGCTGCCCAGAGCCCTCCACGAGTGAACCCCTCAGGTCTGGAAGGGGGCACTGTGGAAGGAGGGAAGGTGGCCTGTGGCCCCGCCCAGGGCTCCCCAGGGGGTGTGCAGGTGACAACTCTCCCTG... | pathogenic | 257,135 |
The chromosome 16, position 88435896 genetic variant in gene ZNF469 (zinc finger protein 469): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Brittle_cornea_syndrome_1'] | CCTTGGGCCCCTGCCCCGTGAAGACCCACTTACCTCGCCTTCCAGGGCCCAAGGTGGGCTGGGGGGGCAGCTGCCAGCATCTCCGTCCTGCAGGGACCCTCCCGGCCCCCAGCAGCTGCTGGCCTGTTCTCCTGCCTGGGCACCTCTGGAAGAGGCAGATGGCGTCCAAGCCACGACAGATACTGGGGCTGAGGATTCCCCGGTGGCTCCCCCGTCTTTGACAACAAGCCCCTGCGATCCCAAGGAAGCCCTGGCTGGTTGCCTTCTCCAGGGGGAGGGCAGCCCCCTGGAAGACCCTTCCTCCTGGCCTCCTGGCTCCG... | CCTTGGGCCCCTGCCCCGTGAAGACCCACTTACCTCGCCTTCCAGGGCCCAAGGTGGGCTGGGGGGGCAGCTGCCAGCATCTCCGTCCTGCAGGGACCCTCCCGGCCCCCAGCAGCTGCTGGCCTGTTCTCCTGCCTGGGCACCTCTGGAAGAGGCAGATGGCGTCCAAGCCACGACAGATACTGGGGCTGAGGATTCCCCGGTGGCTCCCCCGTCTTTGACAACAAGCCCCTGCGATCCCAAGGAAGCCCTGGCTGGTTGCCTTCTCCAGGGGGAGGGCAGCCCCCTGGAAGACCCTTCCTCCTGGCCTCCTGGCTCCG... | pathogenic | 257,192 |
A genetic variant at chromosome 16, position 88436095, affecting gene ZNF469 (zinc finger protein 469)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CCGGTGGCTCCCCCGTCTTTGACAACAAGCCCCTGCGATCCCAAGGAAGCCCTGGCTGGTTGCCTTCTCCAGGGGGAGGGCAGCCCCCTGGAAGACCCTTCCTCCTGGCCTCCTGGCTCCGTCAGTGCTGTAACCTGCACTCACAGTGGGGACACCCCCAAAGACAGCACTTTAAGAATTCCAGAGGATTCCAGAAAAGAGAAGCTGTGGGAGTCTCCTGGCCGAGCCACCTCTCCTCCTCTGGCAGGGGCCGTCTCCCCCAGCGTGGCCGTCAGGGCTACTGGCCTGTCCAGCACTCCCACCGGAGATGAGGCACAGGC... | CCGGTGGCTCCCCCGTCTTTGACAACAAGCCCCTGCGATCCCAAGGAAGCCCTGGCTGGTTGCCTTCTCCAGGGGGAGGGCAGCCCCCTGGAAGACCCTTCCTCCTGGCCTCCTGGCTCCGTCAGTGCTGTAACCTGCACTCACAGTGGGGACACCCCCAAAGACAGCACTTTAAGAATTCCAGAGGATTCCAGAAAAGAGAAGCTGTGGGAGTCTCCTGGCCGAGCCACCTCTCCTCCTCTGGCAGGGGCCGTCTCCCCCAGCGTGGCCGTCAGGGCTACTGGCCTGTCCAGCACTCCCACCGGAGATGAGGCACAGGC... | benign | 257,205 |
Is the variant located on chromosome 16 at position 88436563, gene ZNF469 (zinc finger protein 469), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CCCACTGAGCCTCCCACGCTACAGGGTGCAGGGCCGGACTCCCCCGCCTGCCTGGAAGGTGAGATGGGGACCAGCAGCAAGGAGCCGGAGGACCCAGGGACCCCTGAGACCGGGCGCTCTGGTGCTACCAAGATGCCCAGGGTCACCTGCCCTTCCACAGGACTGGGCTTGGGAAGAACCACAGCCCCAAGCAGCACAGCCAGTGACTTCCAGTCTGACTCCCCCCAAAGCCACAGAAATGCCTCCCACCAGACTCCCCAGGGGGACCCCCTCGGCCCCCAAGACCTCAAACAGAGGTCCCGTGGCTATAAAAAGAAGCC... | CCCACTGAGCCTCCCACGCTACAGGGTGCAGGGCCGGACTCCCCCGCCTGCCTGGAAGGTGAGATGGGGACCAGCAGCAAGGAGCCGGAGGACCCAGGGACCCCTGAGACCGGGCGCTCTGGTGCTACCAAGATGCCCAGGGTCACCTGCCCTTCCACAGGACTGGGCTTGGGAAGAACCACAGCCCCAAGCAGCACAGCCAGTGACTTCCAGTCTGACTCCCCCCAAAGCCACAGAAATGCCTCCCACCAGACTCCCCAGGGGGACCCCCTCGGCCCCCAAGACCTCAAACAGAGGTCCCGTGGCTATAAAAAGAAGCC... | benign | 257,242 |
Considering the genetic mutation at chromosome 16, position 88437793, impacting ZNF469 (zinc finger protein 469): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Brittle_cornea_syndrome_1'] | AGAGAGACCAAGGCGTTGGGTGTGTGCAAAGAGTCTGGGAGCGAGCCTGCGGAGGACAGCAGCAGGGCCCACAGCCGATCAGAGGAAGGTGTCTGGGAGGAGAACACGCCCCCCTTGGGCCCCCTGGGTTTTCCCGAGACTTCCAGCTCTCCGGCGGACAGCACCACCAGCAGCTGCCTCCAGGGCCTCCCGGACAACCCAGACACCCAGGGTGGAGTCCAGGGGCCTGAAGGCCCCACTCCTGATGCCTCTGGCTCCAGTGCCAAGGATCCTCCAAGCTTGTTTGATGATGAGGTCTCTTTCTCCCAGCTCTTCCCTCC... | AGAGAGACCAAGGCGTTGGGTGTGTGCAAAGAGTCTGGGAGCGAGCCTGCGGAGGACAGCAGCAGGGCCCACAGCCGATCAGAGGAAGGTGTCTGGGAGGAGAACACGCCCCCCTTGGGCCCCCTGGGTTTTCCCGAGACTTCCAGCTCTCCGGCGGACAGCACCACCAGCAGCTGCCTCCAGGGCCTCCCGGACAACCCAGACACCCAGGGTGGAGTCCAGGGGCCTGAAGGCCCCACTCCTGATGCCTCTGGCTCCAGTGCCAAGGATCCTCCAAGCTTGTTTGATGATGAGGTCTCTTTCTCCCAGCTCTTCCCTCC... | pathogenic | 257,335 |
Evaluate the clinical significance of the mutation at chromosome 16, position 88437940 in gene ZNF469 (zinc finger protein 469): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TCTCCGGCGGACAGCACCACCAGCAGCTGCCTCCAGGGCCTCCCGGACAACCCAGACACCCAGGGTGGAGTCCAGGGGCCTGAAGGCCCCACTCCTGATGCCTCTGGCTCCAGTGCCAAGGATCCTCCAAGCTTGTTTGATGATGAGGTCTCTTTCTCCCAGCTCTTCCCTCCAGGCGGTCGCTTGACTAGAAAGAGGAACCCGCATGTCTACGGGAAGCGCTGTGAGAAGCCGGTGCTCCCGCTGCCAACCCAGCCCAGCTTTGAGGAGGGCGGTGACCCCACGCTGGGCCCAGCCCGCCTGCCCACGGACCTCAGCGA... | TCTCCGGCGGACAGCACCACCAGCAGCTGCCTCCAGGGCCTCCCGGACAACCCAGACACCCAGGGTGGAGTCCAGGGGCCTGAAGGCCCCACTCCTGATGCCTCTGGCTCCAGTGCCAAGGATCCTCCAAGCTTGTTTGATGATGAGGTCTCTTTCTCCCAGCTCTTCCCTCCAGGCGGTCGCTTGACTAGAAAGAGGAACCCGCATGTCTACGGGAAGCGCTGTGAGAAGCCGGTGCTCCCGCTGCCAACCCAGCCCAGCTTTGAGGAGGGCGGTGACCCCACGCTGGGCCCAGCCCGCCTGCCCACGGACCTCAGCGA... | benign | 257,350 |
Does the chromosome 16 mutation at position 88643473 within gene CYBA (cytochrome b-245 alpha chain) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative'] | CCAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCATATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTC... | CCAGGTTGGTCTCGAACTCCTGAGCTCAAGTGATCCTCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCATATGAGTTTCTACTAAGCACCTGGCACTGGGAACAGGCCGAGAACAAAATGGTGAAAACCCTTCCTGCCTCCACGGTGACTAATGAAACAAGTGGTGTGTAGTCTGTGAGTGAGTCCAGGACAGAGGCTCTGGGGGAGGGGCTGCAGTTCTTTTTTTTTTTTTTGAGGAGTCTCGCTCTGGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAAGCTC... | pathogenic | 257,465 |
The mutation impacting CYBA (cytochrome b-245 alpha chain) on chromosome 16 at position 88646183: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative'] | GTGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGC... | GTGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGC... | pathogenic | 257,471 |
The chromosome 16, position 88646184 genetic variant in gene CYBA (cytochrome b-245 alpha chain): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Chronic_granulomatous_disease', 'Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative'] | TGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGCA... | TGGACCTGGGAGTGTGTGCTTTTCATCTTCTATCCCATAATATCTGGTGGAAAAATATGTCACATCATATACGTCATGAACAGAAAGAGAAACTGGACATGTGTGATCCTACCTGACTCCAAAACGGAAACATTCCATTCTGAAAAGCAAAACTAGAAGGCTGATAGAAGAAAAGGCAGGAACGTGAAGGCAGGACCCAGGGCCAGGGAAAGGTGTTTTCACAAAGCACAGACCATAGAGCAGGTGAACAGGGAAACCTCTGCTCTTCCGTGCAGTGAAGGACTCCACGCGCCAAGTTAACAGACCCTCACCAGAAAGCA... | pathogenic | 257,472 |
Is the genetic change at chromosome 16, position 88646795, within gene CYBA (cytochrome b-245 alpha chain) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['CYBA-related_disorder', 'Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative'] | CCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGC... | CCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGATGGCGCGAGACTCCATCTCAAAAAAAAAAGAAGAAAAAGAAAAATACAAAAACCACAATAGAAAAATGGGCAAAGGATTTGAACAGGCAACTCAAGGGAGAAGAAACTCCAACAGCTCAAATCCACAGTCAGAGAAGGGCGAGTCCAAGCTCCACACGGCCAGCTCGTGCTGTGAAACTGGCAAGCGTGGGAGAAAGCCTAGTGCATGGTGGGAGAGATGGGGCCACATGGCTGGTGGTGGGTTGTCTGCTGAGGAGCAGC... | pathogenic | 257,484 |
Is the chromosome 16, position 88647132 variant in CYBA (cytochrome b-245 alpha chain) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative'] | ACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTG... | ACGGTGCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTG... | pathogenic | 257,490 |
Benign or pathogenic: chromosome 16, position 88647137, gene CYBA (cytochrome b-245 alpha chain) variant? Disease(s) if pathogenic? | pathogenic; ['Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative'] | GCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCT... | GCAGAGGCTGATGCCTGACCCAGCAATTCCTCTCTGGGTTTAGCACAAGGAATTCCTCCCGAGGTCTCCAGGAGCCACTAGCTGTGCGTGGCAGCAGGGAGACGGGGGGGATGCGGGTGGCCCCCGGAAAACAAAGCAACAGCCCAGATGAGCACTTGGCAACAGGAAGGGGTTCTAAAGGAGAGTTCTGCCGGTGGCAGGTCAGTGAGGCTTGAAACAGAACTCCACTTCCATACGCGGAAGGCGTACACAGAAAGTGCTGCACCTTTCCCACGCACACACACTAGAAGACGCACAGCAAGGGGAGGGCAGTTGCCTCT... | pathogenic | 257,491 |
Mutation found at chromosome 16 position 88650948, gene CYBA (cytochrome b-245 alpha chain): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Chronic_granulomatous_disease', 'Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-negative'] | TGAGCCACGGCGCCTGGTCCTTCCTACTATTTTATTTCTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGAGTTCCGTGGCGTGATCTCAGCTCACTACAACCTCCACCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGCGCGCCTGCCACCATACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGTA... | TGAGCCACGGCGCCTGGTCCTTCCTACTATTTTATTTCTTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGAGTTCCGTGGCGTGATCTCAGCTCACTACAACCTCCACCTCCCAGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATGCGCGCCTGCCACCATACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGTGTA... | pathogenic | 257,498 |
Clinical significance of chromosome 16, position 88714226, gene CTU2 (cytosolic thiouridylase subunit 2): benign or pathogenic? Name the disease(s) if pathogenic. | benign | GAGGCCTCGAAGGGTTTTCCCAGGTGGAGGTGGCCCTGCAGCCTGCCCTGCCTGGCTCCTCTCTGAGCCCTGACTCTTTCTGCCTGGGTTTTTCAGAGGGAGCAGCCTGTGGCCAGAGCCTAGAGGAGAGATCAAAGACCCTGGCCGAAGTGAAGCCCATTCTGCAAGCAACTGGGTTCCCATGGCATGTGGTGGCCTTAGAGGAGGTGGGAGGGCTGTCCCTGGAAAGGGGTCCCGGAGGTGACCCCTGGGGGGCACCTGCCCGTGTCCCAGCCTCACTGGCCTCTCCCTCATCCCAGAAGGCGGGGCTGTCGGTGGGG... | GAGGCCTCGAAGGGTTTTCCCAGGTGGAGGTGGCCCTGCAGCCTGCCCTGCCTGGCTCCTCTCTGAGCCCTGACTCTTTCTGCCTGGGTTTTTCAGAGGGAGCAGCCTGTGGCCAGAGCCTAGAGGAGAGATCAAAGACCCTGGCCGAAGTGAAGCCCATTCTGCAAGCAACTGGGTTCCCATGGCATGTGGTGGCCTTAGAGGAGGTGGGAGGGCTGTCCCTGGAAAGGGGTCCCGGAGGTGACCCCTGGGGGGCACCTGCCCGTGTCCCAGCCTCACTGGCCTCTCCCTCATCCCAGAAGGCGGGGCTGTCGGTGGGG... | benign | 257,533 |
Is the genetic change at chromosome 16, position 88714227, within gene CTU2 (cytosolic thiouridylase subunit 2) benign or pathogenic? Name the disease(s) if pathogenic. | benign | AGGCCTCGAAGGGTTTTCCCAGGTGGAGGTGGCCCTGCAGCCTGCCCTGCCTGGCTCCTCTCTGAGCCCTGACTCTTTCTGCCTGGGTTTTTCAGAGGGAGCAGCCTGTGGCCAGAGCCTAGAGGAGAGATCAAAGACCCTGGCCGAAGTGAAGCCCATTCTGCAAGCAACTGGGTTCCCATGGCATGTGGTGGCCTTAGAGGAGGTGGGAGGGCTGTCCCTGGAAAGGGGTCCCGGAGGTGACCCCTGGGGGGCACCTGCCCGTGTCCCAGCCTCACTGGCCTCTCCCTCATCCCAGAAGGCGGGGCTGTCGGTGGGGG... | AGGCCTCGAAGGGTTTTCCCAGGTGGAGGTGGCCCTGCAGCCTGCCCTGCCTGGCTCCTCTCTGAGCCCTGACTCTTTCTGCCTGGGTTTTTCAGAGGGAGCAGCCTGTGGCCAGAGCCTAGAGGAGAGATCAAAGACCCTGGCCGAAGTGAAGCCCATTCTGCAAGCAACTGGGTTCCCATGGCATGTGGTGGCCTTAGAGGAGGTGGGAGGGCTGTCCCTGGAAAGGGGTCCCGGAGGTGACCCCTGGGGGGCACCTGCCCGTGTCCCAGCCTCACTGGCCTCTCCCTCATCCCAGAAGGCGGGGCTGTCGGTGGGGG... | benign | 257,534 |
Considering the genetic mutation at chromosome 16, position 88715682, impacting PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Blood_group,_ER', 'Dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and/or_perinatal_edema', 'Lymphatic_malformation_6', 'PIEZO1-related_disorder'] | CTGCCTCCCGCAGGGCTTCTCGGATGAGCGGCACGGGGACGTGGTGGTGGTGCGGCCCATGCGGGACCACACCCTGAAGGAGGTCGCTTTCTACAACCGCCTGTTCTCCGTTCCTTCTGTCTTCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGAC... | CTGCCTCCCGCAGGGCTTCTCGGATGAGCGGCACGGGGACGTGGTGGTGGTGCGGCCCATGCGGGACCACACCCTGAAGGAGGTCGCTTTCTACAACCGCCTGTTCTCCGTTCCTTCTGTCTTCACACCAGCCGTCGACACCAAGGTGGGCCTTGTGGGCTGGGCAACCTCTCTCACCATTGACACCGGGGTGGGCCATGTGGGCTGGGCAGCCTCTCACAGGCTCAGGTCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGAC... | pathogenic | 257,556 |
The chromosome 16, position 88715911 genetic variant in gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCT... | TCACCAGCACACCTTCAGTGACTCCTGCTGTGGCCCCCAGCAGTGCTGCATCCTCTGAGCCCACCCTGTGCCGTGAGGGTGTGGGGGTGACAGGAGGACCCCACAGTGGGTGCACTGCTGAAGCGGGTTCTCTGGCTGCCTTGAGCAGTCGCAGCAAAGCCAGACCCATGTGGGCCAGCAGCGTGGAACCCACGGCACCTGTCCTGGGGACTCTGCCCCAGCCTGGGGCTGGCCTCTGGGCTTTCCCATAGCCTCCAATCTGATTGTCCCTAGGCCCCTGAAAAGGCCAGCATCCACCGGCTGATGGAGGCCTTCATCCT... | benign | 257,562 |
Chromosome 16, position 88721199, gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | GGGTTTCTTTTTGAAGTGGTGAGAAGGCAGATGCTCAACTGTGAATCCACTAGAAACCCCTGAGTTGTACTTTTTACGTGGGGGAGTGGTCTGACGCACGAATTCTCTCTGAGAAAGGCCATTAAACAAGAATGCAGCAAACAGTGGCTGTCCGGTCCTCCCTGCACCAGGCCCTGCTCTGCTGCCAGCCTGCCTGGAACAGGACCAACTCCGCTGCCCACTTCTGCGCCCAGCACTCACTCGCAGCTGCCAAGATCACTGGCCTCGTGATCAGCTAGTGGGTGGGCTCGCCTCATGTCCCCATGGGCTCCGAGCCCTGG... | GGGTTTCTTTTTGAAGTGGTGAGAAGGCAGATGCTCAACTGTGAATCCACTAGAAACCCCTGAGTTGTACTTTTTACGTGGGGGAGTGGTCTGACGCACGAATTCTCTCTGAGAAAGGCCATTAAACAAGAATGCAGCAAACAGTGGCTGTCCGGTCCTCCCTGCACCAGGCCCTGCTCTGCTGCCAGCCTGCCTGGAACAGGACCAACTCCGCTGCCCACTTCTGCGCCCAGCACTCACTCGCAGCTGCCAAGATCACTGGCCTCGTGATCAGCTAGTGGGTGGGCTCGCCTCATGTCCCCATGGGCTCCGAGCCCTGG... | benign | 257,620 |
Is the genetic variant on chromosome 16, position 88723080, gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | AGAAGTGGCACCTTCCTGGGATCCAGGTGGGCCTCGCACTGGGCTTGGCCGTCTCATCTGAGAAAGACCCTCCCTGCAGTAGCCCCACTCAGAAAACTGGGTAGGCAGGAGGTTGTGAGGCAGGGCGCTTATACCGATGGCTGCCGCTCCTTTCCGTGCTGGGCCCTCCTTCTTCCTTCTTCTAAAACGTAGACTGATGCGCCTCGTATCACGGGGCCTGAGCTCCACTTGGGGTTCTGGGGTCCCGTCCGTGGGTCCGACCCTGGCTTCCACCTGAATGTGGTCTTCGGTGGTGGCCGCAGGCACCCCTGGCCCCTCCT... | AGAAGTGGCACCTTCCTGGGATCCAGGTGGGCCTCGCACTGGGCTTGGCCGTCTCATCTGAGAAAGACCCTCCCTGCAGTAGCCCCACTCAGAAAACTGGGTAGGCAGGAGGTTGTGAGGCAGGGCGCTTATACCGATGGCTGCCGCTCCTTTCCGTGCTGGGCCCTCCTTCTTCCTTCTTCTAAAACGTAGACTGATGCGCCTCGTATCACGGGGCCTGAGCTCCACTTGGGGTTCTGGGGTCCCGTCCGTGGGTCCGACCCTGGCTTCCACCTGAATGTGGTCTTCGGTGGTGGCCGCAGGCACCCCTGGCCCCTCCT... | benign | 257,674 |
Chromosome 16, position 88723258, gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTTCTAAAACGTAGACTGATGCGCCTCGTATCACGGGGCCTGAGCTCCACTTGGGGTTCTGGGGTCCCGTCCGTGGGTCCGACCCTGGCTTCCACCTGAATGTGGTCTTCGGTGGTGGCCGCAGGCACCCCTGGCCCCTCCTCGGCTCCCTGCTCCTCCTCGCCGCTCTTGTCATGCTCCTTGGATGGTGAGTCCTCCTCATGGTCCCAGAGGCCATAGCACTGAGGGGCGGGAGGGTGTGGTGAGGGGGCCTTGCCTCCCTGGTGGAGAGCACAGGTGCCCAGAGGGCCTGCCCAGCCCCGCATTGCCAGCCAAGGCTC... | CTTCTAAAACGTAGACTGATGCGCCTCGTATCACGGGGCCTGAGCTCCACTTGGGGTTCTGGGGTCCCGTCCGTGGGTCCGACCCTGGCTTCCACCTGAATGTGGTCTTCGGTGGTGGCCGCAGGCACCCCTGGCCCCTCCTCGGCTCCCTGCTCCTCCTCGCCGCTCTTGTCATGCTCCTTGGATGGTGAGTCCTCCTCATGGTCCCAGAGGCCATAGCACTGAGGGGCGGGAGGGTGTGGTGAGGGGGCCTTGCCTCCCTGGTGGAGAGCACAGGTGCCCAGAGGGCCTGCCCAGCCCCGCATTGCCAGCCAAGGCTC... | benign | 257,679 |
Is the genetic mutation found on chromosome 16 at position 88723927, within the gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Lymphatic_malformation_6'] | AGACGAGCACGGGCAGCACCAGCGAGCCGGCGGAGGCCGTGACCATGTGGTTGAGGATGATGATGAAGTAGCAGAGCAGCTCCGAGTGGGCGGCCACACACTGGTACACGGCCCGCAGCAGCCGCAGCGCCCGGCCCTGCCCCTCCGCAAACAGCTCTGCCTCCTCCAGCTCTGGGATGCGCAGGCGCCTACAGGGAGACCCGCGTGTTTGGGGGAGTCTGGGACTGCCCGAAGGCATGACGGCCCGATCTGTTGCCGGTCACAGTCAGTCTCCTGCCCCTGTTCGGCTGCTCCCCGAGGGCCATGGTGAGGCTGGTGTT... | AGACGAGCACGGGCAGCACCAGCGAGCCGGCGGAGGCCGTGACCATGTGGTTGAGGATGATGATGAAGTAGCAGAGCAGCTCCGAGTGGGCGGCCACACACTGGTACACGGCCCGCAGCAGCCGCAGCGCCCGGCCCTGCCCCTCCGCAAACAGCTCTGCCTCCTCCAGCTCTGGGATGCGCAGGCGCCTACAGGGAGACCCGCGTGTTTGGGGGAGTCTGGGACTGCCCGAAGGCATGACGGCCCGATCTGTTGCCGGTCACAGTCAGTCTCCTGCCCCTGTTCGGCTGCTCCCCGAGGGCCATGGTGAGGCTGGTGTT... | pathogenic | 257,683 |
Does the chromosome 16 mutation at position 88726660 within gene PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TGAACCCGGGAGGTAGAGATTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGCAGTGACAGAGCGAGACTCCATCTCAAAAAGAAACAAAAACAGAATAACGCAGTGCTGCTGGGTCCCAGGTGAGATCGCTGCTCGACCACCATGTGTCATCGGGGCAAGCTCCGAGACTCCCACTGTTGGAAGGGCTGGGGCATAGCCAGGAGAGGACATAGTCAGCCCAGGGGTCTGCAGCCAGTGAGGCACCCCCCGACCCAGGAGGCCTGAGCACGTCCTGACGCTCAGGGCCTGGGAGTCGGGGGAAGGGAGGGGAAG... | TGAACCCGGGAGGTAGAGATTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGCAGTGACAGAGCGAGACTCCATCTCAAAAAGAAACAAAAACAGAATAACGCAGTGCTGCTGGGTCCCAGGTGAGATCGCTGCTCGACCACCATGTGTCATCGGGGCAAGCTCCGAGACTCCCACTGTTGGAAGGGCTGGGGCATAGCCAGGAGAGGACATAGTCAGCCCAGGGGTCTGCAGCCAGTGAGGCACCCCCCGACCCAGGAGGCCTGAGCACGTCCTGACGCTCAGGGCCTGGGAGTCGGGGGAAGGGAGGGGAAG... | benign | 257,707 |
Considering the genetic mutation at chromosome 16, position 88726660, impacting PIEZO1 (piezo type mechanosensitive ion channel component 1 (Er blood group)): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | TGAACCCGGGAGGTAGAGATTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGCAGTGACAGAGCGAGACTCCATCTCAAAAAGAAACAAAAACAGAATAACGCAGTGCTGCTGGGTCCCAGGTGAGATCGCTGCTCGACCACCATGTGTCATCGGGGCAAGCTCCGAGACTCCCACTGTTGGAAGGGCTGGGGCATAGCCAGGAGAGGACATAGTCAGCCCAGGGGTCTGCAGCCAGTGAGGCACCCCCCGACCCAGGAGGCCTGAGCACGTCCTGACGCTCAGGGCCTGGGAGTCGGGGGAAGGGAGGGGAAG... | TGAACCCGGGAGGTAGAGATTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGCAGTGACAGAGCGAGACTCCATCTCAAAAAGAAACAAAAACAGAATAACGCAGTGCTGCTGGGTCCCAGGTGAGATCGCTGCTCGACCACCATGTGTCATCGGGGCAAGCTCCGAGACTCCCACTGTTGGAAGGGCTGGGGCATAGCCAGGAGAGGACATAGTCAGCCCAGGGGTCTGCAGCCAGTGAGGCACCCCCCGACCCAGGAGGCCTGAGCACGTCCTGACGCTCAGGGCCTGGGAGTCGGGGGAAGGGAGGGGAAG... | benign | 257,708 |
Is the chromosome 16, position 88733270 variant in PIEZO1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TGGCCACAAAGAAGGGTGCTGAGGCCGGGGCTGTTTGAATGCAGAGGACACGTTTGACGATGGCACTGCCAGGAGACGGGACCACGGGTGTGGGGCTGTGGGCTCAGACACCCTCACCCAGGAGACGCATGCTCGAGGCAGCACTTGGGTGTGAGGCATCACGGCCGACCCGCACGGGGCCCGGAGAGGACGCAGTGCTCCTTGTGTGACTCACAACTTTCCTGAAGGTTTGAAATATTTCAAGATAGAATACTGGGCAAAAAAGGAAAAGAGAACAGCAGAGCCTGGAGGGGGCCAGGCCGCCCCCGAGAGACAGGATG... | TGGCCACAAAGAAGGGTGCTGAGGCCGGGGCTGTTTGAATGCAGAGGACACGTTTGACGATGGCACTGCCAGGAGACGGGACCACGGGTGTGGGGCTGTGGGCTCAGACACCCTCACCCAGGAGACGCATGCTCGAGGCAGCACTTGGGTGTGAGGCATCACGGCCGACCCGCACGGGGCCCGGAGAGGACGCAGTGCTCCTTGTGTGACTCACAACTTTCCTGAAGGTTTGAAATATTTCAAGATAGAATACTGGGCAAAAAAGGAAAAGAGAACAGCAGAGCCTGGAGGGGGCCAGGCCGCCCCCGAGAGACAGGATG... | benign | 257,760 |
Is the genetic variant on chromosome 16, position 88733987, gene PIEZO1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GATGCACTGAGTCTGGGGGGAGGGACTTTCTTGTCCCACCCAGCAGGCCTCAGGCTTGCAGCAGCCCTGCCTGGAGGCTGCGGGCATCAAGCAAGGACAGGGCCAGCGGCGCTGTCAAGAGGGCAGGAGTGGCTGGCAGTTGCCATCGTGCAGGGGAAACTGAGGCTCCAGGAGGTGGGCTGTACAGTAGAGCAGATCTAACTTGGCCCCCTGCCTGTTGTCAGCACCGACACACCACAGGAGTCCAGGGAAGCCGTGCCTGGCCCTGAGTCCCCCACCCTCTGTGGCCCAGGCAAACCCAGGTGGGGCCAGGCTTGCGG... | GATGCACTGAGTCTGGGGGGAGGGACTTTCTTGTCCCACCCAGCAGGCCTCAGGCTTGCAGCAGCCCTGCCTGGAGGCTGCGGGCATCAAGCAAGGACAGGGCCAGCGGCGCTGTCAAGAGGGCAGGAGTGGCTGGCAGTTGCCATCGTGCAGGGGAAACTGAGGCTCCAGGAGGTGGGCTGTACAGTAGAGCAGATCTAACTTGGCCCCCTGCCTGTTGTCAGCACCGACACACCACAGGAGTCCAGGGAAGCCGTGCCTGGCCCTGAGTCCCCCACCCTCTGTGGCCCAGGCAAACCCAGGTGGGGCCAGGCTTGCGG... | benign | 257,771 |
Gene PIEZO1 variant at chromosome position 88735264 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCGGGCTGCGAATACAGAGTTGCCTGGAGCTTCCTCCCGTCCCAGCCCTCGGGGGCCGGTACCTCGGTGCAGTTGCTGGAATACTCCTGGGGGTTGACAACCTTGAGCTGGTACAGCATCTTACACACGATGATGACGCAGGTCCACACGGTGGACAGGCAGGAGGCCATGGGCCGGAAGCGTGGGTAGGGCAGGGCGAAGGCCCACAGCACCACCAGCAGCAGGTTCATCACCGACACCTGAGGGCAGTGGGCACGTGGGGCTGGGCTTGGGGAGGGCAGTGGGCACGTGGGGCTGGGCTTGGGGAGGCCAGCTGGGCA... | TCGGGCTGCGAATACAGAGTTGCCTGGAGCTTCCTCCCGTCCCAGCCCTCGGGGGCCGGTACCTCGGTGCAGTTGCTGGAATACTCCTGGGGGTTGACAACCTTGAGCTGGTACAGCATCTTACACACGATGATGACGCAGGTCCACACGGTGGACAGGCAGGAGGCCATGGGCCGGAAGCGTGGGTAGGGCAGGGCGAAGGCCCACAGCACCACCAGCAGCAGGTTCATCACCGACACCTGAGGGCAGTGGGCACGTGGGGCTGGGCTTGGGGAGGGCAGTGGGCACGTGGGGCTGGGCTTGGGGAGGCCAGCTGGGCA... | benign | 257,798 |
Clinical impact (benign or pathogenic) of the variant at chromosome 16, location 88736406, gene PIEZO1: what disease(s) if pathogenic? | benign | GTGAGCCCAGCGCGGGAGGCGCGTGCCAGGCAGGGACACGTGCTCCATGTCGGTGAGCTGCATGAAGGGCCTGTGGAAGTAGTGCAGCTGCAGGATGCAGGCCAGGAGGAAGAAGCCGGGCACCAGGATGCTGGAGAAGAGCTCGGACACGCTGAACTGCTCCAGGCCCAGGTCCCCCAGCCTGTGGAGGGGCAGCATCAGCACCGGCCCGGCCCCCGGCAGAGCCGCTGCAGCCCCGGGGAAGTGCACGGGGTTTCGGCGCCCCTGCCCCACCGCCCCAGCCTGGACTCACTGCTCGTCGGTGAAGCCAGTGAGGTTGC... | GTGAGCCCAGCGCGGGAGGCGCGTGCCAGGCAGGGACACGTGCTCCATGTCGGTGAGCTGCATGAAGGGCCTGTGGAAGTAGTGCAGCTGCAGGATGCAGGCCAGGAGGAAGAAGCCGGGCACCAGGATGCTGGAGAAGAGCTCGGACACGCTGAACTGCTCCAGGCCCAGGTCCCCCAGCCTGTGGAGGGGCAGCATCAGCACCGGCCCGGCCCCCGGCAGAGCCGCTGCAGCCCCGGGGAAGTGCACGGGGTTTCGGCGCCCCTGCCCCACCGCCCCAGCCTGGACTCACTGCTCGTCGGTGAAGCCAGTGAGGTTGC... | benign | 257,809 |
Variant at chromosome 16, position 88737517, gene PIEZO1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ACTTGCGCTCACACGCAGAGTCACACACGGGTTCACTAGTTCACGTGGGCACAGATCCATGCACGCACCTGCACACATGTCCACATGCTGGAGTGCATGTTTGCCCACATGCGTGCTCACATATGCACACAAGCTCACAGGTGCATATGTTGGCACACAGGCTCACAAGTTTCACAAGATGAGACCCACTGGCCTGCAAACAGGTGTCCAGACACGATGCTGGCACCCGTTTCACATGGACACGCAGGCACCCTGTGAACACATGGCCTGCACAGCTTGTCACTGAGACCCAGGGCTGTGCATGGTGCCAATGGGCAGAG... | ACTTGCGCTCACACGCAGAGTCACACACGGGTTCACTAGTTCACGTGGGCACAGATCCATGCACGCACCTGCACACATGTCCACATGCTGGAGTGCATGTTTGCCCACATGCGTGCTCACATATGCACACAAGCTCACAGGTGCATATGTTGGCACACAGGCTCACAAGTTTCACAAGATGAGACCCACTGGCCTGCAAACAGGTGTCCAGACACGATGCTGGCACCCGTTTCACATGGACACGCAGGCACCCTGTGAACACATGGCCTGCACAGCTTGTCACTGAGACCCAGGGCTGTGCATGGTGCCAATGGGCAGAG... | benign | 257,825 |
Clinically, how would you classify the variant at chromosome 16, position 88737610, gene PIEZO1: benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | TGCATGTTTGCCCACATGCGTGCTCACATATGCACACAAGCTCACAGGTGCATATGTTGGCACACAGGCTCACAAGTTTCACAAGATGAGACCCACTGGCCTGCAAACAGGTGTCCAGACACGATGCTGGCACCCGTTTCACATGGACACGCAGGCACCCTGTGAACACATGGCCTGCACAGCTTGTCACTGAGACCCAGGGCTGTGCATGGTGCCAATGGGCAGAGCCCACGCTCACACACACTGTCAGGGGCGCAGGGGTGGTGCCTGTGCCAATGGGCATAGCCCATGCTCACACACAGTGTCGGGGCACAGGGGTG... | TGCATGTTTGCCCACATGCGTGCTCACATATGCACACAAGCTCACAGGTGCATATGTTGGCACACAGGCTCACAAGTTTCACAAGATGAGACCCACTGGCCTGCAAACAGGTGTCCAGACACGATGCTGGCACCCGTTTCACATGGACACGCAGGCACCCTGTGAACACATGGCCTGCACAGCTTGTCACTGAGACCCAGGGCTGTGCATGGTGCCAATGGGCAGAGCCCACGCTCACACACACTGTCAGGGGCGCAGGGGTGGTGCCTGTGCCAATGGGCATAGCCCATGCTCACACACAGTGTCGGGGCACAGGGGTG... | benign | 257,829 |
Clinical significance of chromosome 16, position 88810453, gene APRT (adenine phosphoribosyltransferase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Adenine_phosphoribosyltransferase_deficiency'] | AGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGT... | AGATGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGT... | pathogenic | 257,953 |
Chromosome 16, position 88810456, gene APRT (adenine phosphoribosyltransferase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Adenine_phosphoribosyltransferase_deficiency'] | TGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGT... | TGTGGGCTGCAGGCTGCACAGCCCGAGGGTCTCTGGCTGCGGGCGGTGGGCCCCTTCATGGGGCTCACCTGGTGGATTCACATTAAACCGGTTTCTGTGGGCACCTCTGTCCTTGCTGCTGGTGGGGAAGGGAAGCCAGATCCAGCACCCCCTGGGGGGCCATCGGGAGTGTGGCTGGGGGTGAAGGGGGCTCTGTGGCAATATGGGGTTGGGTAGTGTGGGTGGCAGGCCATCCCCTCTAATCTTGGAACCTCTGAATATGGGACCTCCCACAGCAAAGGGTGACTTTTGTCATTAAGAAAGACTGGGGTGGGTGTGGT... | pathogenic | 257,954 |
Variant in gene GALNS (galactosamine (N-acetyl)-6-sulfatase), located at chromosome 16 position 88822633: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | TCTGGGAAGCTCTGCCTGCTGCCTGGGTTTGCTTTGAAATAACCCTGCCTTCTCCAGCTGTGAGGGCGGGGCTGGGTGGCTGTGGTGGGTGGGACTGTGTCTCTGCTCTGGCCTGGCTGGAGGGGCTCCAGCAAACGCAACAGGCGGGGAGCAGTGGCCCTGAGGACCCCCCTGTGGATGCCAATCACGCCCAGTGGACGCGAGGGGGCACCGCCATCCAGGCTTTAACCTCGGGTGGTCCCTGGAGCGACCAGCCTGTGGGGGGTGTGGCGGGCACCGGTGTGGCCAGCAGCTTGTTCTGTGTAACTGGGGCCTGCAAT... | TCTGGGAAGCTCTGCCTGCTGCCTGGGTTTGCTTTGAAATAACCCTGCCTTCTCCAGCTGTGAGGGCGGGGCTGGGTGGCTGTGGTGGGTGGGACTGTGTCTCTGCTCTGGCCTGGCTGGAGGGGCTCCAGCAAACGCAACAGGCGGGGAGCAGTGGCCCTGAGGACCCCCCTGTGGATGCCAATCACGCCCAGTGGACGCGAGGGGGCACCGCCATCCAGGCTTTAACCTCGGGTGGTCCCTGGAGCGACCAGCCTGTGGGGGGTGTGGCGGGCACCGGTGTGGCCAGCAGCTTGTTCTGTGTAACTGGGGCCTGCAAT... | pathogenic | 257,999 |
Regarding the variant at chromosome 16 and position 88822633, affecting gene GALNS (galactosamine (N-acetyl)-6-sulfatase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | TCTGGGAAGCTCTGCCTGCTGCCTGGGTTTGCTTTGAAATAACCCTGCCTTCTCCAGCTGTGAGGGCGGGGCTGGGTGGCTGTGGTGGGTGGGACTGTGTCTCTGCTCTGGCCTGGCTGGAGGGGCTCCAGCAAACGCAACAGGCGGGGAGCAGTGGCCCTGAGGACCCCCCTGTGGATGCCAATCACGCCCAGTGGACGCGAGGGGGCACCGCCATCCAGGCTTTAACCTCGGGTGGTCCCTGGAGCGACCAGCCTGTGGGGGGTGTGGCGGGCACCGGTGTGGCCAGCAGCTTGTTCTGTGTAACTGGGGCCTGCAAT... | TCTGGGAAGCTCTGCCTGCTGCCTGGGTTTGCTTTGAAATAACCCTGCCTTCTCCAGCTGTGAGGGCGGGGCTGGGTGGCTGTGGTGGGTGGGACTGTGTCTCTGCTCTGGCCTGGCTGGAGGGGCTCCAGCAAACGCAACAGGCGGGGAGCAGTGGCCCTGAGGACCCCCCTGTGGATGCCAATCACGCCCAGTGGACGCGAGGGGGCACCGCCATCCAGGCTTTAACCTCGGGTGGTCCCTGGAGCGACCAGCCTGTGGGGGGTGTGGCGGGCACCGGTGTGGCCAGCAGCTTGTTCTGTGTAACTGGGGCCTGCAAT... | pathogenic | 258,000 |
Benign or pathogenic: chromosome 16, position 88822654, gene GALNS (galactosamine (N-acetyl)-6-sulfatase) variant? Disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | CCTGGGTTTGCTTTGAAATAACCCTGCCTTCTCCAGCTGTGAGGGCGGGGCTGGGTGGCTGTGGTGGGTGGGACTGTGTCTCTGCTCTGGCCTGGCTGGAGGGGCTCCAGCAAACGCAACAGGCGGGGAGCAGTGGCCCTGAGGACCCCCCTGTGGATGCCAATCACGCCCAGTGGACGCGAGGGGGCACCGCCATCCAGGCTTTAACCTCGGGTGGTCCCTGGAGCGACCAGCCTGTGGGGGGTGTGGCGGGCACCGGTGTGGCCAGCAGCTTGTTCTGTGTAACTGGGGCCTGCAATCTGCTCCCCGTGGTCCCCCTG... | CCTGGGTTTGCTTTGAAATAACCCTGCCTTCTCCAGCTGTGAGGGCGGGGCTGGGTGGCTGTGGTGGGTGGGACTGTGTCTCTGCTCTGGCCTGGCTGGAGGGGCTCCAGCAAACGCAACAGGCGGGGAGCAGTGGCCCTGAGGACCCCCCTGTGGATGCCAATCACGCCCAGTGGACGCGAGGGGGCACCGCCATCCAGGCTTTAACCTCGGGTGGTCCCTGGAGCGACCAGCCTGTGGGGGGTGTGGCGGGCACCGGTGTGGCCAGCAGCTTGTTCTGTGTAACTGGGGCCTGCAATCTGCTCCCCGTGGTCCCCCTG... | pathogenic | 258,001 |
Variant in GALNS (galactosamine (N-acetyl)-6-sulfatase), chromosome 16, position 88824816—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | CCTCGTCTGCCCGTGTCCTGGAGCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGAT... | CCTCGTCTGCCCGTGTCCTGGAGCCCCTGACTGCGGCCGTGAGGGGCCTTGTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGAT... | pathogenic | 258,009 |
Located at chromosome 16 position 88824866, the variant affecting gene GALNS (galactosamine (N-acetyl)-6-sulfatase)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Morquio_syndrome', 'Mucopolysaccharidosis,_MPS-IV-A'] | GTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTC... | GTCTGCCTGTGTCCTGGAGCCCCTAACTGGGGGCCGTGGGGGGGTCTCGTCTGCCTGTGCCTAGCAGCGTCCCTGGTACTCAGCATGGTGCAGGGCGCTGGCTAAACGCTGAAGGACTAGCGGGCCCATAAGCATCCTGTGGAGGAGGTGAAGCCACCCGCTCTGGGCCCGAGATGCGTAGCTGGCATGCCTCACGTACCCTGTTTTCATGTACCCCTCTTCTTTGCGAGGCAGGTGAGTGTATTTAAAACACCTTAGCCAGCCTCAGATCTGGACTGCCACTAATTTCATGGAGGAAAGCCCCTTTTAACAGCCTACTC... | pathogenic | 258,016 |
A genetic variant at chromosome 16, position 88826770, affecting gene GALNS (galactosamine (N-acetyl)-6-sulfatase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | GAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGG... | GAGATGGGGGCAGCTCCGCCTGCGCCCACGTCCCGAGCCCTGTACCTGTCTGAAGTTCTCCCAGGAGTTGGTCCAGGTCCAGAAGTGAGCCTTGTGCTGCCCGAGGGTGGCCGCCATCAGCGTGTCGCCACGGTAATAGAAGATAGGCCTGTGGGATGGGAGGGGAGGACCATGTAATGACAGGAAGGACACGCTGGGGCCACCTGGAGGCTCTGGGCTGCGTCTGTCATCAGTGGCTCATGCCTCCACGTGAGGTCTTGGTTGATACTTTACAAAGATGATTGAAAAGTAAAAAGGCCCGCAAGGTGGCTGGGGCTGGG... | pathogenic | 258,024 |
Does the genetic variant at chromosome 16, position 88835243, impacting gene GALNS (galactosamine (N-acetyl)-6-sulfatase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Morquio_syndrome', 'Mucopolysaccharidosis,_MPS-IV-A'] | GCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGC... | GCGTGGGGAAGCCTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGC... | pathogenic | 258,051 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 88835255, gene GALNS (galactosamine (N-acetyl)-6-sulfatase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Morquio_syndrome', 'Mucopolysaccharidosis,_MPS-IV-A'] | CTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCA... | CTCTGAACGGAACCTCGCAGGCAGCTCTGCTCAGAGCCCCTCACGGGCAAACACGCCAACACCCGCAACCCGGCCTGTCTCAGGGAGGGCCCTGCTCACAGCAGCAGAGCCACAGAACCTGTGAAGGGACAATGGACACTGAGCTGGGGACACTGGCCACTTCTAGGGGACACTCAGGCTCACAGGAGGCCATGCTGTGCTTCTTCTCCTTCCCTCCCTCCCTTTCTTTCCTTCTCTCTCCCATCCCCTTTTTTTTTTTTTTTGACATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCA... | pathogenic | 258,053 |
Is the genetic change at chromosome 16, position 88835768, within gene GALNS (galactosamine (N-acetyl)-6-sulfatase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | GATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTC... | GATTACAGGTGTGAGCCACCACGCCCAGCCCCCTCCCCTGCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTC... | pathogenic | 258,069 |
Determine if the mutation at chromosome 16, position 88835807 in gene GALNS (galactosamine (N-acetyl)-6-sulfatase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | GCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTG... | GCTTTCTTTCTCTGGGATGTTCTGTTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTG... | pathogenic | 258,075 |
Determine if the mutation at chromosome 16, position 88835831 in gene GALNS (galactosamine (N-acetyl)-6-sulfatase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | TTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGAC... | TTTCTAGTCTTGTGCTGGGTGCTGGGTGTGTGGGTTCTCATCTTGTTACAAATAGGTACATATACCATTTGTTGGTATGAAACATGCCATTTGTTGGTATGAAACATTCCATCATTTAGAAATGAAGACTCAGGTCGCTGGGACCCTTGCCCCTGCTGGCTGGTGGTTGTGGGTGCTGGCGTCGAGGTGGGCCCCCCCGGGCTCCCCATGGGGAATGACGGCCAACACCACCCTCCCCCCACCCAGCACCCTGCCTCCTGGGAGCTGCCTGTAGCCCTCCACACATGGGTCTGTTGGGGGCCTCGACTCGTGGGTCTGAC... | pathogenic | 258,076 |
Clinical classification of chromosome 16, position 88836229, gene GALNS (galactosamine (N-acetyl)-6-sulfatase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | GTGGCGCGAGGGAGCCTATGCTTCTGTTTTGGCTTTCAGCTGTGCTGGTTTCTATCACTTGAAACTCTGAAGCCCCCAATCCCCGCAGCACACTGGGCTGTAGGCGCCCCCCGACATGGTCTGGGACGAGGCTGTAGGGCTCTCCCCACCACGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCT... | GTGGCGCGAGGGAGCCTATGCTTCTGTTTTGGCTTTCAGCTGTGCTGGTTTCTATCACTTGAAACTCTGAAGCCCCCAATCCCCGCAGCACACTGGGCTGTAGGCGCCCCCCGACATGGTCTGGGACGAGGCTGTAGGGCTCTCCCCACCACGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCTCAGCGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGTGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCT... | pathogenic | 258,084 |
Mutation found at chromosome 16 position 88837689, gene GALNS (galactosamine (N-acetyl)-6-sulfatase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Morquio_syndrome', 'Mucopolysaccharidosis,_MPS-IV-A'] | CCACGGTACTGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCC... | CCACGGTACTGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCC... | pathogenic | 258,095 |
Evaluate if the mutation on chromosome 16 at position 88837698 in GALNS (galactosamine (N-acetyl)-6-sulfatase) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Morquio_syndrome', 'Mucopolysaccharidosis,_MPS-IV-A'] | TGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTC... | TGAGTGTCCCATCTCTGGAGTCAAGCACAGCTGGGGCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTC... | pathogenic | 258,097 |
The genetic variant at chromosome 16, position 88837733, affecting gene GALNS (galactosamine (N-acetyl)-6-sulfatase): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | GCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCAC... | GCCTCCAGCGAGGTCTATGCTCCATGGAGCCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCAC... | pathogenic | 258,102 |
A genetic variant at chromosome 16, position 88837762, affecting gene GALNS (galactosamine (N-acetyl)-6-sulfatase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | CCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTC... | CCAGGACTCACCGCCCTCGCTGACTGGTGCCCAAGAAGGGTTTGGAGGCATAGACGGGTGCGTGCGTGGCGTCGACAGCCCAGTAGAGGAAAAAGGGGTGGTGCCGTGCCTGTCTCTTAATGAAGTCCAGGGCTTCCTATGGAGAGAGCCACACCGTCGTCCTCCAGCCTCAGGCCGACCTCCTCATGCCTCCCACGGTCCCCGTCCCCACACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTC... | pathogenic | 258,106 |
Variant in gene GALNS (galactosamine (N-acetyl)-6-sulfatase), located at chromosome 16 position 88840990: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['GALNS-related_disorder', 'Mucopolysaccharidosis,_MPS-IV-A'] | CTCAGGTAAGCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACC... | CTCAGGTAAGCACGCCTGGACCTCTCTGTGACCTCAGAGCTCCCTTGGCTGCCAACTCCGGGCTGTTTCCTTTGGGTCTTCAGCACTTGGGCCCATTGCTAGAGCACCCCGACATCCCTGAACACCCCAGGCAGGTCACCACCCAGCCACAGGGGACACTCGTGCGTCCACGTCCGCAGGTCACCGCCCAACCACAGGGGACACTCGTGCGCCCACGTCCGCTGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCACAGGTCACCGCCCGGCCACAGGGGACACTCGTGCGCCCACGTCCGCAGGTCACC... | pathogenic | 258,118 |
Considering the genetic mutation at chromosome 16, position 88856800, impacting GALNS: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | CGCCAGGCGGCCCTGGTCTGTCGACTCAGGAGGGCCAGGGAATCCCCACTGTTGCTTGTCACTTTGACTTCATCTTCTGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTC... | CGCCAGGCGGCCCTGGTCTGTCGACTCAGGAGGGCCAGGGAATCCCCACTGTTGCTTGTCACTTTGACTTCATCTTCTGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTC... | pathogenic | 258,163 |
Variant on chromosome 16, at position 88856864, affecting GALNS: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-IV-A'] | TGACTTCATCTTCTGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTCCACATGCAATTCCCTATTTACCGGGAGCCACATTAGAAAAGCAGAAGTAGGTGAAATACAGACT... | TGACTTCATCTTCTGCTGTCTGCATCAGAAAGTCCTTACAAGTACACCTACCGGCCAGGACACAGCTCCTCTGGGGTTCTTTAGGCGTCAGCTGCCAAACGACCCCACAAGCCACACAGTGGAGGCCACAGAACAGGTGCCCAGGTGGGCGGGGCTTCCTGTCACCCTCCCCCACATGTGCCCCGGTGGCCACACCCCACCCCTCCACCCTGCACGGCCTGAACCCTTGCTGTCCTATGGAAACGTAGGGTGAGTCCACATGCAATTCCCTATTTACCGGGAGCCACATTAGAAAAGCAGAAGTAGGTGAAATACAGACT... | pathogenic | 258,165 |
Clinical classification of chromosome 16, position 89100695, gene ACSF3 (acyl-CoA synthetase family member 3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | TGAGCATTTGCATTGCCTGCACCTTATCGTGCCCTTCCACCTGCTGAAGCAGCTGTGCCTGCCGCTCTTGTGAACTGCGAACTTCCCCTTACCTCCTCTCTCTGGCTCGGGAGCTGGGTGAGTTTGAACTTGGCCTCCTTTGCTTTTCTGTGTGCGAACAAGTGGTTGCCTTGTTTGTTTACTGAACAGAGTGTGGTTGAGGCAAAATGCTGAGATGAAACCTAACCTAATATGTGTGTATTAGACGGTAGCATCATTGTCAAAATAATACTTGTTCAAAGTCCCTGAAAACCAAACGGACAACTTGACTACGCTTCGGC... | TGAGCATTTGCATTGCCTGCACCTTATCGTGCCCTTCCACCTGCTGAAGCAGCTGTGCCTGCCGCTCTTGTGAACTGCGAACTTCCCCTTACCTCCTCTCTCTGGCTCGGGAGCTGGGTGAGTTTGAACTTGGCCTCCTTTGCTTTTCTGTGTGCGAACAAGTGGTTGCCTTGTTTGTTTACTGAACAGAGTGTGGTTGAGGCAAAATGCTGAGATGAAACCTAACCTAATATGTGTGTATTAGACGGTAGCATCATTGTCAAAATAATACTTGTTCAAAGTCCCTGAAAACCAAACGGACAACTTGACTACGCTTCGGC... | pathogenic | 258,187 |
Variant in ACSF3 (acyl-CoA synthetase family member 3), chromosome 16, position 89100832—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | CTTTGCTTTTCTGTGTGCGAACAAGTGGTTGCCTTGTTTGTTTACTGAACAGAGTGTGGTTGAGGCAAAATGCTGAGATGAAACCTAACCTAATATGTGTGTATTAGACGGTAGCATCATTGTCAAAATAATACTTGTTCAAAGTCCCTGAAAACCAAACGGACAACTTGACTACGCTTCGGCCACAGGCCTGGGACGCTGTCAGACCGAGGGCCGCTGAGTGCCCAGTGGCAGCAGAGCCCAGAGGGTGCTTCCCCCAGGAAGGGAGGCAGACCAGCCTATTCTTACTGTGAGTCGAGCAAAGCTTTGATTATAAAGGG... | CTTTGCTTTTCTGTGTGCGAACAAGTGGTTGCCTTGTTTGTTTACTGAACAGAGTGTGGTTGAGGCAAAATGCTGAGATGAAACCTAACCTAATATGTGTGTATTAGACGGTAGCATCATTGTCAAAATAATACTTGTTCAAAGTCCCTGAAAACCAAACGGACAACTTGACTACGCTTCGGCCACAGGCCTGGGACGCTGTCAGACCGAGGGCCGCTGAGTGCCCAGTGGCAGCAGAGCCCAGAGGGTGCTTCCCCCAGGAAGGGAGGCAGACCAGCCTATTCTTACTGTGAGTCGAGCAAAGCTTTGATTATAAAGGG... | pathogenic | 258,193 |
Is the genetic variant on chromosome 16, position 89100926, gene ACSF3 (acyl-CoA synthetase family member 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | ATGTGTGTATTAGACGGTAGCATCATTGTCAAAATAATACTTGTTCAAAGTCCCTGAAAACCAAACGGACAACTTGACTACGCTTCGGCCACAGGCCTGGGACGCTGTCAGACCGAGGGCCGCTGAGTGCCCAGTGGCAGCAGAGCCCAGAGGGTGCTTCCCCCAGGAAGGGAGGCAGACCAGCCTATTCTTACTGTGAGTCGAGCAAAGCTTTGATTATAAAGGGCCAGGGATGCAGGAGCCTCGTGGAGAGTGCCACCCCTTCTTCTCGCTCTGGAATGCGGGGGCTGTGCCCCTGGCCTGTGTCCGCATCCTGGGGC... | ATGTGTGTATTAGACGGTAGCATCATTGTCAAAATAATACTTGTTCAAAGTCCCTGAAAACCAAACGGACAACTTGACTACGCTTCGGCCACAGGCCTGGGACGCTGTCAGACCGAGGGCCGCTGAGTGCCCAGTGGCAGCAGAGCCCAGAGGGTGCTTCCCCCAGGAAGGGAGGCAGACCAGCCTATTCTTACTGTGAGTCGAGCAAAGCTTTGATTATAAAGGGCCAGGGATGCAGGAGCCTCGTGGAGAGTGCCACCCCTTCTTCTCGCTCTGGAATGCGGGGGCTGTGCCCCTGGCCTGTGTCCGCATCCTGGGGC... | pathogenic | 258,197 |
Is the genetic change at chromosome 16, position 89100939, within gene ACSF3 (acyl-CoA synthetase family member 3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | ACGGTAGCATCATTGTCAAAATAATACTTGTTCAAAGTCCCTGAAAACCAAACGGACAACTTGACTACGCTTCGGCCACAGGCCTGGGACGCTGTCAGACCGAGGGCCGCTGAGTGCCCAGTGGCAGCAGAGCCCAGAGGGTGCTTCCCCCAGGAAGGGAGGCAGACCAGCCTATTCTTACTGTGAGTCGAGCAAAGCTTTGATTATAAAGGGCCAGGGATGCAGGAGCCTCGTGGAGAGTGCCACCCCTTCTTCTCGCTCTGGAATGCGGGGGCTGTGCCCCTGGCCTGTGTCCGCATCCTGGGGCGGTGTCCCGTGGG... | ACGGTAGCATCATTGTCAAAATAATACTTGTTCAAAGTCCCTGAAAACCAAACGGACAACTTGACTACGCTTCGGCCACAGGCCTGGGACGCTGTCAGACCGAGGGCCGCTGAGTGCCCAGTGGCAGCAGAGCCCAGAGGGTGCTTCCCCCAGGAAGGGAGGCAGACCAGCCTATTCTTACTGTGAGTCGAGCAAAGCTTTGATTATAAAGGGCCAGGGATGCAGGAGCCTCGTGGAGAGTGCCACCCCTTCTTCTCGCTCTGGAATGCGGGGGCTGTGCCCCTGGCCTGTGTCCGCATCCTGGGGCGGTGTCCCGTGGG... | pathogenic | 258,199 |
Clinical classification of chromosome 16, position 89100985, gene ACSF3 (acyl-CoA synthetase family member 3): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | ACCAAACGGACAACTTGACTACGCTTCGGCCACAGGCCTGGGACGCTGTCAGACCGAGGGCCGCTGAGTGCCCAGTGGCAGCAGAGCCCAGAGGGTGCTTCCCCCAGGAAGGGAGGCAGACCAGCCTATTCTTACTGTGAGTCGAGCAAAGCTTTGATTATAAAGGGCCAGGGATGCAGGAGCCTCGTGGAGAGTGCCACCCCTTCTTCTCGCTCTGGAATGCGGGGGCTGTGCCCCTGGCCTGTGTCCGCATCCTGGGGCGGTGTCCCGTGGGCAGTGTCCTCTGGCTGCAGAATGCATGTTGCAGAATTGGACCAGCC... | ACCAAACGGACAACTTGACTACGCTTCGGCCACAGGCCTGGGACGCTGTCAGACCGAGGGCCGCTGAGTGCCCAGTGGCAGCAGAGCCCAGAGGGTGCTTCCCCCAGGAAGGGAGGCAGACCAGCCTATTCTTACTGTGAGTCGAGCAAAGCTTTGATTATAAAGGGCCAGGGATGCAGGAGCCTCGTGGAGAGTGCCACCCCTTCTTCTCGCTCTGGAATGCGGGGGCTGTGCCCCTGGCCTGTGTCCGCATCCTGGGGCGGTGTCCCGTGGGCAGTGTCCTCTGGCTGCAGAATGCATGTTGCAGAATTGGACCAGCC... | pathogenic | 258,202 |
Is the genetic variant on chromosome 16, position 89101195, gene ACSF3 (acyl-CoA synthetase family member 3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | CGCTCTGGAATGCGGGGGCTGTGCCCCTGGCCTGTGTCCGCATCCTGGGGCGGTGTCCCGTGGGCAGTGTCCTCTGGCTGCAGAATGCATGTTGCAGAATTGGACCAGCCCTCACGCGTCAGGAGCGTTGGGCCCACAGGCGGAGGCACCCTGGCTTCTTCTCGGTCTCCTTTCTCTGAATGAAGAATTCCAGTGGACGGCGGGCCCGCGCGACCCCTCCCAGGGAGCCCTCGCTTCCTGCTGATTTATTTGTTATTTAGTAGTTAAGTTTTTGGGGGGAAAGGAGAGAATTATAGTTCAACCTAAAACACGTTTTCTAG... | CGCTCTGGAATGCGGGGGCTGTGCCCCTGGCCTGTGTCCGCATCCTGGGGCGGTGTCCCGTGGGCAGTGTCCTCTGGCTGCAGAATGCATGTTGCAGAATTGGACCAGCCCTCACGCGTCAGGAGCGTTGGGCCCACAGGCGGAGGCACCCTGGCTTCTTCTCGGTCTCCTTTCTCTGAATGAAGAATTCCAGTGGACGGCGGGCCCGCGCGACCCCTCCCAGGGAGCCCTCGCTTCCTGCTGATTTATTTGTTATTTAGTAGTTAAGTTTTTGGGGGGAAAGGAGAGAATTATAGTTCAACCTAAAACACGTTTTCTAG... | pathogenic | 258,217 |
Determine if the mutation at chromosome 16, position 89102693 in gene ACSF3 (acyl-CoA synthetase family member 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | GCCTTGCCTTTCTCCAGCTCGGCCGCCTGTCAGTGCAATGCTGCCCCATGTGGTGCTCACCTTCCGGCGCCTGGGCTGCGCCTTGGCGTCCTGCCGGCTGGCGCCTGCGAGACACAGAGGAAGTGGTCTTCTGCACACAGCCCCAGTGGCCCGCTCGGACAGGAGCGCCCCGGTGTTCACCCGTGCCCTGGCCTTTGGGGACAGAATCGCCCTGGTTGACCAGCACGGCCGCCACACGTACAGGGAGCTTTATTCCCGCAGCCTTCGCCTGTCCCAGGAGATCTGCAGGCTCTGCGGGTGTGTCGGCGGGGACCTCCGGG... | GCCTTGCCTTTCTCCAGCTCGGCCGCCTGTCAGTGCAATGCTGCCCCATGTGGTGCTCACCTTCCGGCGCCTGGGCTGCGCCTTGGCGTCCTGCCGGCTGGCGCCTGCGAGACACAGAGGAAGTGGTCTTCTGCACACAGCCCCAGTGGCCCGCTCGGACAGGAGCGCCCCGGTGTTCACCCGTGCCCTGGCCTTTGGGGACAGAATCGCCCTGGTTGACCAGCACGGCCGCCACACGTACAGGGAGCTTTATTCCCGCAGCCTTCGCCTGTCCCAGGAGATCTGCAGGCTCTGCGGGTGTGTCGGCGGGGACCTCCGGG... | pathogenic | 258,242 |
Variant at chromosome position 89102738, chromosome 16, gene ACSF3 (acyl-CoA synthetase family member 3): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia', 'Inborn_genetic_diseases'] | CCATGTGGTGCTCACCTTCCGGCGCCTGGGCTGCGCCTTGGCGTCCTGCCGGCTGGCGCCTGCGAGACACAGAGGAAGTGGTCTTCTGCACACAGCCCCAGTGGCCCGCTCGGACAGGAGCGCCCCGGTGTTCACCCGTGCCCTGGCCTTTGGGGACAGAATCGCCCTGGTTGACCAGCACGGCCGCCACACGTACAGGGAGCTTTATTCCCGCAGCCTTCGCCTGTCCCAGGAGATCTGCAGGCTCTGCGGGTGTGTCGGCGGGGACCTCCGGGAGGAGAGGGTCTCCTTCCTATGCGCTAACGATGCCTCCTACGTCG... | CCATGTGGTGCTCACCTTCCGGCGCCTGGGCTGCGCCTTGGCGTCCTGCCGGCTGGCGCCTGCGAGACACAGAGGAAGTGGTCTTCTGCACACAGCCCCAGTGGCCCGCTCGGACAGGAGCGCCCCGGTGTTCACCCGTGCCCTGGCCTTTGGGGACAGAATCGCCCTGGTTGACCAGCACGGCCGCCACACGTACAGGGAGCTTTATTCCCGCAGCCTTCGCCTGTCCCAGGAGATCTGCAGGCTCTGCGGGTGTGTCGGCGGGGACCTCCGGGAGGAGAGGGTCTCCTTCCTATGCGCTAACGATGCCTCCTACGTCG... | pathogenic | 258,245 |
Determine whether the variant at chromosome 16, position 89102811, in gene ACSF3 (acyl-CoA synthetase family member 3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | GGAAGTGGTCTTCTGCACACAGCCCCAGTGGCCCGCTCGGACAGGAGCGCCCCGGTGTTCACCCGTGCCCTGGCCTTTGGGGACAGAATCGCCCTGGTTGACCAGCACGGCCGCCACACGTACAGGGAGCTTTATTCCCGCAGCCTTCGCCTGTCCCAGGAGATCTGCAGGCTCTGCGGGTGTGTCGGCGGGGACCTCCGGGAGGAGAGGGTCTCCTTCCTATGCGCTAACGATGCCTCCTACGTCGTGGCCCAGTGGGCGTCATGGATGAGTGGCGGTGTGGCAGTCCCCCTCTACAGGAAGCATCCCGCGGCCCAGCT... | GGAAGTGGTCTTCTGCACACAGCCCCAGTGGCCCGCTCGGACAGGAGCGCCCCGGTGTTCACCCGTGCCCTGGCCTTTGGGGACAGAATCGCCCTGGTTGACCAGCACGGCCGCCACACGTACAGGGAGCTTTATTCCCGCAGCCTTCGCCTGTCCCAGGAGATCTGCAGGCTCTGCGGGTGTGTCGGCGGGGACCTCCGGGAGGAGAGGGTCTCCTTCCTATGCGCTAACGATGCCTCCTACGTCGTGGCCCAGTGGGCGTCATGGATGAGTGGCGGTGTGGCAGTCCCCCTCTACAGGAAGCATCCCGCGGCCCAGCT... | benign | 258,252 |
Variant on chromosome 16, at position 89112134, affecting ACSF3 (acyl-CoA synthetase family member 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | ATGTGTCTTTTGGAGCACACATTAATTTTGATGAAATTCATTTTATAAAAAAAATTTTAAAAATAAATTCATTTTATCAATTTTTAAACTTTATAGATTGTGCTTTTGGTATCTCATCTGAGAAGTCTTTGCCAAACCACAGGTCATGTCATGAAGATATTCCCTTTTGTTTTTTCTTAGAAGTTTTCTAGTTTTAGCTCATACGTGGAGGTTTCTGACCCACTTTGGGTTAATTTTGCATATGGTGTGAGGTAGGGTCTAGGAGTCACCTTCTGCATGGAGATATTCAGTGTGTCAGTGCCATTTGTGAGAAAGATTAT... | ATGTGTCTTTTGGAGCACACATTAATTTTGATGAAATTCATTTTATAAAAAAAATTTTAAAAATAAATTCATTTTATCAATTTTTAAACTTTATAGATTGTGCTTTTGGTATCTCATCTGAGAAGTCTTTGCCAAACCACAGGTCATGTCATGAAGATATTCCCTTTTGTTTTTTCTTAGAAGTTTTCTAGTTTTAGCTCATACGTGGAGGTTTCTGACCCACTTTGGGTTAATTTTGCATATGGTGTGAGGTAGGGTCTAGGAGTCACCTTCTGCATGGAGATATTCAGTGTGTCAGTGCCATTTGTGAGAAAGATTAT... | pathogenic | 258,263 |
Considering the genetic mutation at chromosome 16, position 89114361, impacting ACSF3: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | AATAAATCACTCCTACTAAGTTCTGGGAAGCAGTGCTTTCCATTTCCTTTCAATGTTCCCTCTCTCTCTACCCGTCTCCGTCTCTACCTCTCTAACTGTCTCTCTCTCTCTCTACCCGTCTGTATGTATATCTGTAATCTCTTCCACGTCGATAGCTGCCTGGATTCTGTATCGCTCTCTCTGTCACACTCTGTCTCTCTATCTCTCTCTGTCTCTCTTTGTCTCTCTCTCTCCATCTCTCCATCTATCTGTCTTCTCTGTCTCTCTTGTCAGACTCTCCATCTCTGTCTTCTCTCTGTCTCTCTCCATCGCTCTTCATC... | AATAAATCACTCCTACTAAGTTCTGGGAAGCAGTGCTTTCCATTTCCTTTCAATGTTCCCTCTCTCTCTACCCGTCTCCGTCTCTACCTCTCTAACTGTCTCTCTCTCTCTCTACCCGTCTGTATGTATATCTGTAATCTCTTCCACGTCGATAGCTGCCTGGATTCTGTATCGCTCTCTCTGTCACACTCTGTCTCTCTATCTCTCTCTGTCTCTCTTTGTCTCTCTCTCTCCATCTCTCCATCTATCTGTCTTCTCTGTCTCTCTTGTCAGACTCTCCATCTCTGTCTTCTCTCTGTCTCTCTCCATCGCTCTTCATC... | pathogenic | 258,278 |
Gene ACSF3 variant at chromosome position 89114470 on chromosome 16: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | CTCTACCCGTCTGTATGTATATCTGTAATCTCTTCCACGTCGATAGCTGCCTGGATTCTGTATCGCTCTCTCTGTCACACTCTGTCTCTCTATCTCTCTCTGTCTCTCTTTGTCTCTCTCTCTCCATCTCTCCATCTATCTGTCTTCTCTGTCTCTCTTGTCAGACTCTCCATCTCTGTCTTCTCTCTGTCTCTCTCCATCGCTCTTCATCTGTCTCTCCGTCTTCTCTTTCTCTATCTCTCCTGTCTCTCCATCTGTCTCTATCTCTCCATCTGTCTTTGTCTCCGTCTGTCTGTCTGCTCTCTCTCCTGTCCGTCTCT... | CTCTACCCGTCTGTATGTATATCTGTAATCTCTTCCACGTCGATAGCTGCCTGGATTCTGTATCGCTCTCTCTGTCACACTCTGTCTCTCTATCTCTCTCTGTCTCTCTTTGTCTCTCTCTCTCCATCTCTCCATCTATCTGTCTTCTCTGTCTCTCTTGTCAGACTCTCCATCTCTGTCTTCTCTCTGTCTCTCTCCATCGCTCTTCATCTGTCTCTCCGTCTTCTCTTTCTCTATCTCTCCTGTCTCTCCATCTGTCTCTATCTCTCCATCTGTCTTTGTCTCCGTCTGTCTGTCTGCTCTCTCTCCTGTCCGTCTCT... | pathogenic | 258,283 |
Is the variant located on chromosome 16 at position 89120854, gene ACSF3 (acyl-CoA synthetase family member 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | ATCAGGGAGGGGCTGGCTGACAGCGATTTTAGAGGTGGGCTGTGGCAGGAAGGCAGTGCCCCCCACCTGCCTGCAGCTGCGCTCCCATCTACATTGGCCTTTGCGGGGCCAGCCTCTGTCCACTCTCTTGAGCTCTCATGTCCACACTGTCACATGCCCGGGGCACAGCGAGCGGCACCTGGAGTGTGGGGACCCCTCCCTCGAGCTCTCACGGGTGGCACCTGGAGTGTGGGGGCCCCTGCCTCAAGCTTTCATGGGTGGCACCTGGAGTGTGGGGGCCCCTCCCTGAAGCTCTCACGGGCGGCACCTGGAGTGTGGGG... | ATCAGGGAGGGGCTGGCTGACAGCGATTTTAGAGGTGGGCTGTGGCAGGAAGGCAGTGCCCCCCACCTGCCTGCAGCTGCGCTCCCATCTACATTGGCCTTTGCGGGGCCAGCCTCTGTCCACTCTCTTGAGCTCTCATGTCCACACTGTCACATGCCCGGGGCACAGCGAGCGGCACCTGGAGTGTGGGGACCCCTCCCTCGAGCTCTCACGGGTGGCACCTGGAGTGTGGGGGCCCCTGCCTCAAGCTTTCATGGGTGGCACCTGGAGTGTGGGGGCCCCTCCCTGAAGCTCTCACGGGCGGCACCTGGAGTGTGGGG... | pathogenic | 258,294 |
Is the genetic mutation found on chromosome 16 at position 89133161, within the gene ACSF3 (acyl-CoA synthetase family member 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | TTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCCGTCACCTAGGCTGAAGTGCAGGGCTGCAGTCTTGGTTCACTGCAATCTCCACCTCAAGCGATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCACTGACCACCACACCTGGCTAGTTTTTATCTTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGTTCTCAAACACCCGAGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTGTGCCCTTACTTTTTGGAGCATTTTTATAATAGTGCTTTAAA... | TTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCCGTCACCTAGGCTGAAGTGCAGGGCTGCAGTCTTGGTTCACTGCAATCTCCACCTCAAGCGATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCACTGACCACCACACCTGGCTAGTTTTTATCTTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGTTCTCAAACACCCGAGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTGTGCCCTTACTTTTTGGAGCATTTTTATAATAGTGCTTTAAA... | pathogenic | 258,298 |
Variant chromosome 16, position 89133191, gene ACSF3 (acyl-CoA synthetase family member 3): benign or pathogenic? Disease(s)? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | TTTTTTTTTGAGACAGGGTCTCACTCCGTCACCTAGGCTGAAGTGCAGGGCTGCAGTCTTGGTTCACTGCAATCTCCACCTCAAGCGATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCACTGACCACCACACCTGGCTAGTTTTTATCTTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGTTCTCAAACACCCGAGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTGTGCCCTTACTTTTTGGAGCATTTTTATAATAGTGCTTTAAAGTCTTTCTCAGATAATTCCAATAACTGTGT... | TTTTTTTTTGAGACAGGGTCTCACTCCGTCACCTAGGCTGAAGTGCAGGGCTGCAGTCTTGGTTCACTGCAATCTCCACCTCAAGCGATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCACTGACCACCACACCTGGCTAGTTTTTATCTTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGTTCTCAAACACCCGAGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTGTGCCCTTACTTTTTGGAGCATTTTTATAATAGTGCTTTAAAGTCTTTCTCAGATAATTCCAATAACTGTGT... | pathogenic | 258,300 |
Does the genetic variant at chromosome 16, position 89133223, impacting gene ACSF3 (acyl-CoA synthetase family member 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | CTAGGCTGAAGTGCAGGGCTGCAGTCTTGGTTCACTGCAATCTCCACCTCAAGCGATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCACTGACCACCACACCTGGCTAGTTTTTATCTTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGTTCTCAAACACCCGAGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTGTGCCCTTACTTTTTGGAGCATTTTTATAATAGTGCTTTAAAGTCTTTCTCAGATAATTCCAATAACTGTGTTGTCTCAGTGCTGTTGTATTCTTTTTCTATAT... | CTAGGCTGAAGTGCAGGGCTGCAGTCTTGGTTCACTGCAATCTCCACCTCAAGCGATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCACTGACCACCACACCTGGCTAGTTTTTATCTTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGTTCTCAAACACCCGAGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTGTGCCCTTACTTTTTGGAGCATTTTTATAATAGTGCTTTAAAGTCTTTCTCAGATAATTCCAATAACTGTGTTGTCTCAGTGCTGTTGTATTCTTTTTCTATAT... | pathogenic | 258,304 |
Is the variant located on chromosome 16 at position 89133224, gene ACSF3 (acyl-CoA synthetase family member 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | TAGGCTGAAGTGCAGGGCTGCAGTCTTGGTTCACTGCAATCTCCACCTCAAGCGATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCACTGACCACCACACCTGGCTAGTTTTTATCTTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGTTCTCAAACACCCGAGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTGTGCCCTTACTTTTTGGAGCATTTTTATAATAGTGCTTTAAAGTCTTTCTCAGATAATTCCAATAACTGTGTTGTCTCAGTGCTGTTGTATTCTTTTTCTATATG... | TAGGCTGAAGTGCAGGGCTGCAGTCTTGGTTCACTGCAATCTCCACCTCAAGCGATCCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAAGCACTGACCACCACACCTGGCTAGTTTTTATCTTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGTTCTCAAACACCCGAGCTCAAGCAGTCTGCCCGCCTCAGCCTCCCAAAGTGTGCCCTTACTTTTTGGAGCATTTTTATAATAGTGCTTTAAAGTCTTTCTCAGATAATTCCAATAACTGTGTTGTCTCAGTGCTGTTGTATTCTTTTTCTATATG... | pathogenic | 258,305 |
Does the genetic variant at chromosome 16, position 89145276, impacting gene ACSF3 (acyl-CoA synthetase family member 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | TGCGTAGCTGTGGTGCAGCCTCAGCCCCGTGAGTAACTGTGGTGCATCCTTGGAGCCAGGACACAGGCAGCTCAAGAGGGTGCCGGGGACTTGTCAGCCTTGGGGGCAGGCAGTGATGGCCTCTCCGGCAGGACCAGAGCAGGGCAGTGGCTCCATGCTGCGCTGGGTCTCTGGGTGGTGCAGGCCAGGGTGGAGCCAGGCCAGAAGCTGTATGGAGGGCCCTGAGCACCTGGCAGCCTCCCTGGTGTCAGCAGCTGTGGCATCCGTGGGGCAGGAGCAGCCTGGACGGGGTGGCTCGGTGCGATTAAGAGATGCTATTG... | TGCGTAGCTGTGGTGCAGCCTCAGCCCCGTGAGTAACTGTGGTGCATCCTTGGAGCCAGGACACAGGCAGCTCAAGAGGGTGCCGGGGACTTGTCAGCCTTGGGGGCAGGCAGTGATGGCCTCTCCGGCAGGACCAGAGCAGGGCAGTGGCTCCATGCTGCGCTGGGTCTCTGGGTGGTGCAGGCCAGGGTGGAGCCAGGCCAGAAGCTGTATGGAGGGCCCTGAGCACCTGGCAGCCTCCCTGGTGTCAGCAGCTGTGGCATCCGTGGGGCAGGAGCAGCCTGGACGGGGTGGCTCGGTGCGATTAAGAGATGCTATTG... | pathogenic | 258,312 |
Does the genetic variant at chromosome 16, position 89145344, impacting gene ACSF3 (acyl-CoA synthetase family member 3), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia', 'Methylmalonic_acidemia'] | AGCTCAAGAGGGTGCCGGGGACTTGTCAGCCTTGGGGGCAGGCAGTGATGGCCTCTCCGGCAGGACCAGAGCAGGGCAGTGGCTCCATGCTGCGCTGGGTCTCTGGGTGGTGCAGGCCAGGGTGGAGCCAGGCCAGAAGCTGTATGGAGGGCCCTGAGCACCTGGCAGCCTCCCTGGTGTCAGCAGCTGTGGCATCCGTGGGGCAGGAGCAGCCTGGACGGGGTGGCTCGGTGCGATTAAGAGATGCTATTGGAAGATTGGTGGCTGTCTGGTCCAGAGGGGACACACAAGCCAGGCTGCACAGCAGGAGCAGGAGCCAT... | AGCTCAAGAGGGTGCCGGGGACTTGTCAGCCTTGGGGGCAGGCAGTGATGGCCTCTCCGGCAGGACCAGAGCAGGGCAGTGGCTCCATGCTGCGCTGGGTCTCTGGGTGGTGCAGGCCAGGGTGGAGCCAGGCCAGAAGCTGTATGGAGGGCCCTGAGCACCTGGCAGCCTCCCTGGTGTCAGCAGCTGTGGCATCCGTGGGGCAGGAGCAGCCTGGACGGGGTGGCTCGGTGCGATTAAGAGATGCTATTGGAAGATTGGTGGCTGTCTGGTCCAGAGGGGACACACAAGCCAGGCTGCACAGCAGGAGCAGGAGCCAT... | pathogenic | 258,315 |
Variant on chromosome 16, at position 89145346, affecting ACSF3 (acyl-CoA synthetase family member 3): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | CTCAAGAGGGTGCCGGGGACTTGTCAGCCTTGGGGGCAGGCAGTGATGGCCTCTCCGGCAGGACCAGAGCAGGGCAGTGGCTCCATGCTGCGCTGGGTCTCTGGGTGGTGCAGGCCAGGGTGGAGCCAGGCCAGAAGCTGTATGGAGGGCCCTGAGCACCTGGCAGCCTCCCTGGTGTCAGCAGCTGTGGCATCCGTGGGGCAGGAGCAGCCTGGACGGGGTGGCTCGGTGCGATTAAGAGATGCTATTGGAAGATTGGTGGCTGTCTGGTCCAGAGGGGACACACAAGCCAGGCTGCACAGCAGGAGCAGGAGCCATGG... | CTCAAGAGGGTGCCGGGGACTTGTCAGCCTTGGGGGCAGGCAGTGATGGCCTCTCCGGCAGGACCAGAGCAGGGCAGTGGCTCCATGCTGCGCTGGGTCTCTGGGTGGTGCAGGCCAGGGTGGAGCCAGGCCAGAAGCTGTATGGAGGGCCCTGAGCACCTGGCAGCCTCCCTGGTGTCAGCAGCTGTGGCATCCGTGGGGCAGGAGCAGCCTGGACGGGGTGGCTCGGTGCGATTAAGAGATGCTATTGGAAGATTGGTGGCTGTCTGGTCCAGAGGGGACACACAAGCCAGGCTGCACAGCAGGAGCAGGAGCCATGG... | pathogenic | 258,316 |
Chromosome 16, position 89145387, gene ACSF3 (acyl-CoA synthetase family member 3): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | AGTGATGGCCTCTCCGGCAGGACCAGAGCAGGGCAGTGGCTCCATGCTGCGCTGGGTCTCTGGGTGGTGCAGGCCAGGGTGGAGCCAGGCCAGAAGCTGTATGGAGGGCCCTGAGCACCTGGCAGCCTCCCTGGTGTCAGCAGCTGTGGCATCCGTGGGGCAGGAGCAGCCTGGACGGGGTGGCTCGGTGCGATTAAGAGATGCTATTGGAAGATTGGTGGCTGTCTGGTCCAGAGGGGACACACAAGCCAGGCTGCACAGCAGGAGCAGGAGCCATGGCGGGTCCCACGGGACTTGGGACAGGCTGTGTCCAACCCCGC... | AGTGATGGCCTCTCCGGCAGGACCAGAGCAGGGCAGTGGCTCCATGCTGCGCTGGGTCTCTGGGTGGTGCAGGCCAGGGTGGAGCCAGGCCAGAAGCTGTATGGAGGGCCCTGAGCACCTGGCAGCCTCCCTGGTGTCAGCAGCTGTGGCATCCGTGGGGCAGGAGCAGCCTGGACGGGGTGGCTCGGTGCGATTAAGAGATGCTATTGGAAGATTGGTGGCTGTCTGGTCCAGAGGGGACACACAAGCCAGGCTGCACAGCAGGAGCAGGAGCCATGGCGGGTCCCACGGGACTTGGGACAGGCTGTGTCCAACCCCGC... | pathogenic | 258,318 |
Mutation at chromosome 16, position 89145922, within ACSF3 (acyl-CoA synthetase family member 3): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GGTGAGGTGGATGGATGGGGCCTTTCTGCGTCCAACAGCATGATGTATAATGAAGTATTTATGATTTATTCCAGCTAATAACCCATGTGGAGTGCAGGGTATGTGGAAGCAGACAGTTGAGGCCTCAGCACTGCCCTTACATGCCCTGCATGCTCCCACAGCCACGGCACACATGTGTGCGTGCACATGCTCACAGTCACGCATACCGCGCCCTCCCAGCTGCACACACGCTCGCAGGCACGCACACTATGGGCCCATGCGTCATGAGACAGCTTCGGGCTGGGAGTACAGGCTCTGAGGCTGCAGCCCGCTCTTCCCGA... | GGTGAGGTGGATGGATGGGGCCTTTCTGCGTCCAACAGCATGATGTATAATGAAGTATTTATGATTTATTCCAGCTAATAACCCATGTGGAGTGCAGGGTATGTGGAAGCAGACAGTTGAGGCCTCAGCACTGCCCTTACATGCCCTGCATGCTCCCACAGCCACGGCACACATGTGTGCGTGCACATGCTCACAGTCACGCATACCGCGCCCTCCCAGCTGCACACACGCTCGCAGGCACGCACACTATGGGCCCATGCGTCATGAGACAGCTTCGGGCTGGGAGTACAGGCTCTGAGGCTGCAGCCCGCTCTTCCCGA... | benign | 258,325 |
A genetic variant at chromosome 16, position 89145979, affecting gene ACSF3 (acyl-CoA synthetase family member 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | TTTATGATTTATTCCAGCTAATAACCCATGTGGAGTGCAGGGTATGTGGAAGCAGACAGTTGAGGCCTCAGCACTGCCCTTACATGCCCTGCATGCTCCCACAGCCACGGCACACATGTGTGCGTGCACATGCTCACAGTCACGCATACCGCGCCCTCCCAGCTGCACACACGCTCGCAGGCACGCACACTATGGGCCCATGCGTCATGAGACAGCTTCGGGCTGGGAGTACAGGCTCTGAGGCTGCAGCCCGCTCTTCCCGACTCCCCACCCTCAGTGGCTGGTGGTGTCTGTGTTGAGCTACTCGAGAAAGGAAGAAA... | TTTATGATTTATTCCAGCTAATAACCCATGTGGAGTGCAGGGTATGTGGAAGCAGACAGTTGAGGCCTCAGCACTGCCCTTACATGCCCTGCATGCTCCCACAGCCACGGCACACATGTGTGCGTGCACATGCTCACAGTCACGCATACCGCGCCCTCCCAGCTGCACACACGCTCGCAGGCACGCACACTATGGGCCCATGCGTCATGAGACAGCTTCGGGCTGGGAGTACAGGCTCTGAGGCTGCAGCCCGCTCTTCCCGACTCCCCACCCTCAGTGGCTGGTGGTGTCTGTGTTGAGCTACTCGAGAAAGGAAGAAA... | pathogenic | 258,331 |
Variant chromosome 16, position 89146012, gene ACSF3 (acyl-CoA synthetase family member 3): benign or pathogenic? Disease(s)? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | AGTGCAGGGTATGTGGAAGCAGACAGTTGAGGCCTCAGCACTGCCCTTACATGCCCTGCATGCTCCCACAGCCACGGCACACATGTGTGCGTGCACATGCTCACAGTCACGCATACCGCGCCCTCCCAGCTGCACACACGCTCGCAGGCACGCACACTATGGGCCCATGCGTCATGAGACAGCTTCGGGCTGGGAGTACAGGCTCTGAGGCTGCAGCCCGCTCTTCCCGACTCCCCACCCTCAGTGGCTGGTGGTGTCTGTGTTGAGCTACTCGAGAAAGGAAGAAAACGAAGGAAGCTTGGTTCCCACAGGAGCTCCAG... | AGTGCAGGGTATGTGGAAGCAGACAGTTGAGGCCTCAGCACTGCCCTTACATGCCCTGCATGCTCCCACAGCCACGGCACACATGTGTGCGTGCACATGCTCACAGTCACGCATACCGCGCCCTCCCAGCTGCACACACGCTCGCAGGCACGCACACTATGGGCCCATGCGTCATGAGACAGCTTCGGGCTGGGAGTACAGGCTCTGAGGCTGCAGCCCGCTCTTCCCGACTCCCCACCCTCAGTGGCTGGTGGTGTCTGTGTTGAGCTACTCGAGAAAGGAAGAAAACGAAGGAAGCTTGGTTCCCACAGGAGCTCCAG... | pathogenic | 258,334 |
Is the chromosome 16, position 89146042 variant in ACSF3 (acyl-CoA synthetase family member 3) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | GGCCTCAGCACTGCCCTTACATGCCCTGCATGCTCCCACAGCCACGGCACACATGTGTGCGTGCACATGCTCACAGTCACGCATACCGCGCCCTCCCAGCTGCACACACGCTCGCAGGCACGCACACTATGGGCCCATGCGTCATGAGACAGCTTCGGGCTGGGAGTACAGGCTCTGAGGCTGCAGCCCGCTCTTCCCGACTCCCCACCCTCAGTGGCTGGTGGTGTCTGTGTTGAGCTACTCGAGAAAGGAAGAAAACGAAGGAAGCTTGGTTCCCACAGGAGCTCCAGGAACTGCACGGGGAGGAGCAAGGGCCACGT... | GGCCTCAGCACTGCCCTTACATGCCCTGCATGCTCCCACAGCCACGGCACACATGTGTGCGTGCACATGCTCACAGTCACGCATACCGCGCCCTCCCAGCTGCACACACGCTCGCAGGCACGCACACTATGGGCCCATGCGTCATGAGACAGCTTCGGGCTGGGAGTACAGGCTCTGAGGCTGCAGCCCGCTCTTCCCGACTCCCCACCCTCAGTGGCTGGTGGTGTCTGTGTTGAGCTACTCGAGAAAGGAAGAAAACGAAGGAAGCTTGGTTCCCACAGGAGCTCCAGGAACTGCACGGGGAGGAGCAAGGGCCACGT... | pathogenic | 258,336 |
Regarding the variant at chromosome 16 and position 89154192, affecting gene ACSF3 (acyl-CoA synthetase family member 3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Combined_malonic_and_methylmalonic_acidemia'] | CCCAGTCTCATTCAACACAGAGTTTGTCCCCTGTTAGAAACCGAGACGTTGGTTACACGTGGAGGTTGGGAGTGGCTCAGGCAGGCAGAGGGGCTTCTGGGAACCTGGCCATGTTCCCTTTCAGTCTGGGCGCTACTTAGAGCAGGGGGCAGTTGCTTCAATAAAACTTTAGATTCCCACACAGGCCAGGCGTGGTGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGACGTCAGGAGTTGGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAATTAGC... | CCCAGTCTCATTCAACACAGAGTTTGTCCCCTGTTAGAAACCGAGACGTTGGTTACACGTGGAGGTTGGGAGTGGCTCAGGCAGGCAGAGGGGCTTCTGGGAACCTGGCCATGTTCCCTTTCAGTCTGGGCGCTACTTAGAGCAGGGGGCAGTTGCTTCAATAAAACTTTAGATTCCCACACAGGCCAGGCGTGGTGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGACGTCAGGAGTTGGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAATTAGC... | pathogenic | 258,351 |
Variant at chromosome 16, position 89279294, gene ANKRD11 (ankyrin repeat domain containing 11): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Inborn_genetic_diseases'] | GAATGCACAGCCCAGGACCCGGCACCACCCCTTCCTCTGGCTCAGCCCCAGGGCCGGCAGCTACAGCAGGAGCTGTGCCTTGGGCCTCAGGCAGCACCTGGCACCTGGGCCTGCCTGGGTCTAGGTCTGGGGGGTACTCAAAAGACCAGGCGGGAGGTGCACAGAACATTCCCAGGACTACTCAGATTGGCAGGATTCTAGTGACTTTTTTCCCCTGTATTTTCCAAATTTTCTACAGCAGTCAGACTAGTGTTATGATCCATTAAACGAGAAAACAAAACAACAAAAAGCACAGAAGGTCAGAAGATCAGAAGGTCTTA... | GAATGCACAGCCCAGGACCCGGCACCACCCCTTCCTCTGGCTCAGCCCCAGGGCCGGCAGCTACAGCAGGAGCTGTGCCTTGGGCCTCAGGCAGCACCTGGCACCTGGGCCTGCCTGGGTCTAGGTCTGGGGGGTACTCAAAAGACCAGGCGGGAGGTGCACAGAACATTCCCAGGACTACTCAGATTGGCAGGATTCTAGTGACTTTTTTCCCCTGTATTTTCCAAATTTTCTACAGCAGTCAGACTAGTGTTATGATCCATTAAACGAGAAAACAAAACAACAAAAAGCACAGAAGGTCAGAAGATCAGAAGGTCTTA... | pathogenic | 258,441 |
Classify the chromosome 16 variant at position 89279479 affecting gene ANKRD11 (ankyrin repeat domain containing 11) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['ANKRD11-related_disorder', 'KBG_syndrome'] | ATTGGCAGGATTCTAGTGACTTTTTTCCCCTGTATTTTCCAAATTTTCTACAGCAGTCAGACTAGTGTTATGATCCATTAAACGAGAAAACAAAACAACAAAAAGCACAGAAGGTCAGAAGATCAGAAGGTCTTACTGAGGAGAGATCCTGGGGCAGGTTTTTCTGAATGTCATGACCCAACTGCCGTCTCTGTCTTCTGTGGATGAGCCTCCCCGGGGACGGCTGGGGTCAGGCTCGCGGGGAAGGGAAAGACCGCAGAGGTCACCGTGGGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGG... | ATTGGCAGGATTCTAGTGACTTTTTTCCCCTGTATTTTCCAAATTTTCTACAGCAGTCAGACTAGTGTTATGATCCATTAAACGAGAAAACAAAACAACAAAAAGCACAGAAGGTCAGAAGATCAGAAGGTCTTACTGAGGAGAGATCCTGGGGCAGGTTTTTCTGAATGTCATGACCCAACTGCCGTCTCTGTCTTCTGTGGATGAGCCTCCCCGGGGACGGCTGGGGTCAGGCTCGCGGGGAAGGGAAAGACCGCAGAGGTCACCGTGGGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGG... | pathogenic | 258,451 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 16, position 89279559, gene ANKRD11 (ankyrin repeat domain containing 11). What disease(s) is it linked to if pathogenic? | pathogenic; ['Intellectual_disability', 'KBG_syndrome'] | AACGAGAAAACAAAACAACAAAAAGCACAGAAGGTCAGAAGATCAGAAGGTCTTACTGAGGAGAGATCCTGGGGCAGGTTTTTCTGAATGTCATGACCCAACTGCCGTCTCTGTCTTCTGTGGATGAGCCTCCCCGGGGACGGCTGGGGTCAGGCTCGCGGGGAAGGGAAAGACCGCAGAGGTCACCGTGGGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACC... | AACGAGAAAACAAAACAACAAAAAGCACAGAAGGTCAGAAGATCAGAAGGTCTTACTGAGGAGAGATCCTGGGGCAGGTTTTTCTGAATGTCATGACCCAACTGCCGTCTCTGTCTTCTGTGGATGAGCCTCCCCGGGGACGGCTGGGGTCAGGCTCGCGGGGAAGGGAAAGACCGCAGAGGTCACCGTGGGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACC... | pathogenic | 258,455 |
Variant in ANKRD11 (ankyrin repeat domain containing 11), chromosome 16, position 89279566—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['KBG_syndrome'] | AAACAAAACAACAAAAAGCACAGAAGGTCAGAAGATCAGAAGGTCTTACTGAGGAGAGATCCTGGGGCAGGTTTTTCTGAATGTCATGACCCAACTGCCGTCTCTGTCTTCTGTGGATGAGCCTCCCCGGGGACGGCTGGGGTCAGGCTCGCGGGGAAGGGAAAGACCGCAGAGGTCACCGTGGGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACCCTCAGGG... | AAACAAAACAACAAAAAGCACAGAAGGTCAGAAGATCAGAAGGTCTTACTGAGGAGAGATCCTGGGGCAGGTTTTTCTGAATGTCATGACCCAACTGCCGTCTCTGTCTTCTGTGGATGAGCCTCCCCGGGGACGGCTGGGGTCAGGCTCGCGGGGAAGGGAAAGACCGCAGAGGTCACCGTGGGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACCCTCAGGG... | pathogenic | 258,460 |
A genetic variant at chromosome 16, position 89279704, affecting gene ANKRD11 (ankyrin repeat domain containing 11)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['KBG_syndrome'] | GGGGTCAGGCTCGCGGGGAAGGGAAAGACCGCAGAGGTCACCGTGGGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACCCTCAGGGCAAGCTCAGCAGACCCCGTCATCCTCACCAGGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCAC... | GGGGTCAGGCTCGCGGGGAAGGGAAAGACCGCAGAGGTCACCGTGGGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACCCTCAGGGCAAGCTCAGCAGACCCCGTCATCCTCACCAGGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCAC... | pathogenic | 258,468 |
Clinical significance of chromosome 16, position 89279733, gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['KBG_syndrome'] | CGCAGAGGTCACCGTGGGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACCCTCAGGGCAAGCTCAGCAGACCCCGTCATCCTCACCAGGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCACGCCACCTGCGAGTTTCAGTGCCCAGGAAT... | CGCAGAGGTCACCGTGGGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACCCTCAGGGCAAGCTCAGCAGACCCCGTCATCCTCACCAGGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCACGCCACCTGCGAGTTTCAGTGCCCAGGAAT... | pathogenic | 258,474 |
Is the chromosome 16, position 89279749 variant in ANKRD11 (ankyrin repeat domain containing 11) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Inborn_genetic_diseases', 'KBG_syndrome', 'Rare_genetic_intellectual_disability'] | GGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACCCTCAGGGCAAGCTCAGCAGACCCCGTCATCCTCACCAGGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCACGCCACCTGCGAGTTTCAGTGCCCAGGAATCCCCAGAAGGAAATGG... | GGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACCCTCAGGGCAAGCTCAGCAGACCCCGTCATCCTCACCAGGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCACGCCACCTGCGAGTTTCAGTGCCCAGGAATCCCCAGAAGGAAATGG... | pathogenic | 258,476 |
Determine if the mutation at chromosome 16, position 89279749 in gene ANKRD11 (ankyrin repeat domain containing 11) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['KBG_syndrome'] | GGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACCCTCAGGGCAAGCTCAGCAGACCCCGTCATCCTCACCAGGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCACGCCACCTGCGAGTTTCAGTGCCCAGGAATCCCCAGAAGGAAATGG... | GGTGCAGTGCCCCTCGTGCTCCCTGGGAGCAGAGCTCAGAGCTTGGCAGGGTGGGGCCCGAGGGCGCCCGCTCCTGGATCCTGCACAACGTCCCTGACATGTCGGCCAGCAGCACAGACCCAGCCTCACCCTCAGGGCAAGCTCAGCAGACCCCGTCATCCTCACCAGGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCACGCCACCTGCGAGTTTCAGTGCCCAGGAATCCCCAGAAGGAAATGG... | pathogenic | 258,477 |
Classify the chromosome 16 variant at position 89279852 affecting gene ANKRD11 (ankyrin repeat domain containing 11) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['KBG_syndrome'] | GGCCAGCAGCACAGACCCAGCCTCACCCTCAGGGCAAGCTCAGCAGACCCCGTCATCCTCACCAGGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCACGCCACCTGCGAGTTTCAGTGCCCAGGAATCCCCAGAAGGAAATGGCCATTGGTGACGGCAAGCCTGTTCTGGGCATAACACAACACACTCAAGCGAGACGGCTGCATCAACCACACAGTCCGCTAGGCACAGTGTGAGTGGAGTCGCG... | GGCCAGCAGCACAGACCCAGCCTCACCCTCAGGGCAAGCTCAGCAGACCCCGTCATCCTCACCAGGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCACGCCACCTGCGAGTTTCAGTGCCCAGGAATCCCCAGAAGGAAATGGCCATTGGTGACGGCAAGCCTGTTCTGGGCATAACACAACACACTCAAGCGAGACGGCTGCATCAACCACACAGTCCGCTAGGCACAGTGTGAGTGGAGTCGCG... | pathogenic | 258,491 |
Evaluate this variant at chromosome 16, position 89279916, gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['KBG_syndrome'] | GGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCACGCCACCTGCGAGTTTCAGTGCCCAGGAATCCCCAGAAGGAAATGGCCATTGGTGACGGCAAGCCTGTTCTGGGCATAACACAACACACTCAAGCGAGACGGCTGCATCAACCACACAGTCCGCTAGGCACAGTGTGAGTGGAGTCGCGTGGTCTGGGAGGAGACTCCAGGGAAGAGCCAGAACGCCACACGCTGGGGCTGGATGGACCCTGG... | GGGGGGTGCTGGGTAGCTGAGCCAGGTCAGGGCCAGCACGGCGAGGGGCCTCAGGCGGCCTGGGCCCACAGAGCCAACGCGTGTGGAGGGCCCCTGGCTGTACCTCACGCCACCTGCGAGTTTCAGTGCCCAGGAATCCCCAGAAGGAAATGGCCATTGGTGACGGCAAGCCTGTTCTGGGCATAACACAACACACTCAAGCGAGACGGCTGCATCAACCACACAGTCCGCTAGGCACAGTGTGAGTGGAGTCGCGTGGTCTGGGAGGAGACTCCAGGGAAGAGCCAGAACGCCACACGCTGGGGCTGGATGGACCCTGG... | pathogenic | 258,493 |
The mutation in gene ANKRD11 (ankyrin repeat domain containing 11) at chromosome 16, position 89280028—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['KBG_syndrome'] | CCTGCGAGTTTCAGTGCCCAGGAATCCCCAGAAGGAAATGGCCATTGGTGACGGCAAGCCTGTTCTGGGCATAACACAACACACTCAAGCGAGACGGCTGCATCAACCACACAGTCCGCTAGGCACAGTGTGAGTGGAGTCGCGTGGTCTGGGAGGAGACTCCAGGGAAGAGCCAGAACGCCACACGCTGGGGCTGGATGGACCCTGGGGGGCCTGAGAACAGGAGGGCAGGGGAGGCCGTGCACAGCTCAGGCCGTCACCGAGGACAGACGGGTGGGCTCTGCCTCCCCCATGAGGAATCCCTGTGCCTGCTGGGAAAG... | CCTGCGAGTTTCAGTGCCCAGGAATCCCCAGAAGGAAATGGCCATTGGTGACGGCAAGCCTGTTCTGGGCATAACACAACACACTCAAGCGAGACGGCTGCATCAACCACACAGTCCGCTAGGCACAGTGTGAGTGGAGTCGCGTGGTCTGGGAGGAGACTCCAGGGAAGAGCCAGAACGCCACACGCTGGGGCTGGATGGACCCTGGGGGGCCTGAGAACAGGAGGGCAGGGGAGGCCGTGCACAGCTCAGGCCGTCACCGAGGACAGACGGGTGGGCTCTGCCTCCCCCATGAGGAATCCCTGTGCCTGCTGGGAAAG... | pathogenic | 258,499 |
Chromosome 16, position 89280500, gene ANKRD11 (ankyrin repeat domain containing 11): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['KBG_syndrome'] | GGGGAGTGGGGGTGATTCCGAGATGTTTCACCTGAGCCTGCAGAGGTAGGGATGATGCCTGGGGAACTGGGCTGACAGGGTCAGGTGGAACAAGGTGAGGCTGGGGGCCGAGGACCAAGCTGCCCCAAGGGAGCTGCAGCTCTGCTGTCCCAGAAGCCCAAGGGAGGAGGTGGGGGAAGGGACTCATCGTGCAGGTATGGAGGCTCAGGGAACCCACGCGGGTCCAAGGGAGAAGGGGGCGGGGCAGGGGCAGGAGACACAGGGGGTGGCTCTCGTGAGGCCGTCCTGGTGGACGGGGAGTGGAGAGGGGAGAGTGAGCG... | GGGGAGTGGGGGTGATTCCGAGATGTTTCACCTGAGCCTGCAGAGGTAGGGATGATGCCTGGGGAACTGGGCTGACAGGGTCAGGTGGAACAAGGTGAGGCTGGGGGCCGAGGACCAAGCTGCCCCAAGGGAGCTGCAGCTCTGCTGTCCCAGAAGCCCAAGGGAGGAGGTGGGGGAAGGGACTCATCGTGCAGGTATGGAGGCTCAGGGAACCCACGCGGGTCCAAGGGAGAAGGGGGCGGGGCAGGGGCAGGAGACACAGGGGGTGGCTCTCGTGAGGCCGTCCTGGTGGACGGGGAGTGGAGAGGGGAGAGTGAGCG... | pathogenic | 258,533 |
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