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 |
|---|---|---|---|---|---|
Chromosome X, position 149482906, gene IDS (iduronate 2-sulfatase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | ATGCAAAATGTCTAGAATCACTAGTTCTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAA... | ATGCAAAATGTCTAGAATCACTAGTTCTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAA... | pathogenic | 339,686 |
Considering the variant on chromosome X, location 149482932, involving gene IDS (iduronate 2-sulfatase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | CTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGC... | CTGCTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGC... | pathogenic | 339,689 |
A genetic variant at chromosome X, position 149482935, affecting gene IDS (iduronate 2-sulfatase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | CTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAG... | CTGTCAGCTAAACCACATGAAAGAACCCCTGCTCATGTGAAAGAGAGATTTCTACAAATAAAGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAG... | pathogenic | 339,690 |
A genetic alteration at chromosome X, position 149482996, in gene IDS (iduronate 2-sulfatase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | AGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACG... | AGTGACGGGAGGACCACTAATAAGTTATGTCCAGCTTAGTGGGGTTGGGGAAAGGTTATATGAAGCAACAAAGATACAGTTTCTCTAAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACG... | pathogenic | 339,699 |
Clinical impact (benign or pathogenic) of the variant at chromosome X, location 149483082, gene IDS (iduronate 2-sulfatase): what disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | AAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATT... | AAGCCAAGTAAAGGTAAAGAACTGTGGAGCAGGCAATAAAGCCAAATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATT... | pathogenic | 339,704 |
Gene IDS (iduronate 2-sulfatase) variant at chromosome X, position 149483126—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | AATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATAT... | AATGCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATAT... | pathogenic | 339,705 |
Chromosome X, position 149483129, gene IDS (iduronate 2-sulfatase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | GCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTT... | GCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTT... | pathogenic | 339,706 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 149483129, gene IDS (iduronate 2-sulfatase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | GCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTT... | GCACTGAACTATGTCATAAGGAATTTACAGGCTGTATTGTAAAAGCCACAGTGAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTT... | pathogenic | 339,708 |
Does the variant impacting IDS (iduronate 2-sulfatase) on chromosome X, position 149483181, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | GAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTG... | GAACATGATGACAGCAACAACGAGGATGAAGAACAGCAAAGAAAAAGCTGAGGGAAACCATCGACCAAAGCAAGCGGAGGCTCAAAAGAGAGACGAGCTTCAGGATCAGGAAATGAACAGGGCCCTTCAGTCACGGAGAAGTCGTTGTTGCCAGAACAGTCAGTCACTTAACTGCTTAGAAGATCACCGTGTTACCATATAACCTCTATTGTAGGCTAATTAATTTTTAAAATCTGTCTAAAATTTACTGATTTTAATATAATATCTTGTCATTTTTGGCAACAATACACTGAAGTAACAATGTAGTTTGCTGTATTTTG... | pathogenic | 339,713 |
Regarding the variant at chromosome X and position 149486956, affecting gene IDS: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | GCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATG... | GCTAGCTAGCTCTTCAACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATG... | pathogenic | 339,723 |
A mutation at chromosome position 149486971 on chromosome X in gene IDS: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | AACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTT... | AACCGAGTGTTCAAACTTACAATACTAGTAACGCTGGCCATGAAGTGCCCCCACCATGTGACACAATGGGAGAATACAACAGCCCATGTAGCACACGTGTCAAAAATGTTACCCTGAATGTAGTCATGTGGAAGCAATCAGATAAATCCAGGCTGTGGGACACTGTTATAGGACAACTGGCCTGGATACTTATAAAAAGATGAGGTCAGGGAGATAATGGGGCCAGAACATGTAAGGCCACTGTGACGACTTTTACTCAGATCAAGAAGGGTACATAAGAGGCTCCTGTGCCGGGCTGTGACATGACTTGACTTGGGTTT... | pathogenic | 339,724 |
Determine if the mutation at chromosome X, position 149490323 in gene IDS is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | CCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGC... | CCACTCTCTCGGGGAGGACGAGGCAGCCTTGACCCACGAGGGCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGC... | pathogenic | 339,757 |
Chromosome X, position 149490364, gene IDS: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | GCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGT... | GCTGATGAATGGGTAGGTTATCGGCAGGCTCCTAGGCCACCAGCTTAGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGT... | pathogenic | 339,759 |
The chromosome X, position 149490410 genetic variant in gene IDS: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | AGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACT... | AGAGGTCACATTGTCCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACT... | pathogenic | 339,766 |
Determine whether the variant at chromosome X, position 149490424, in gene IDS is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | CCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTG... | CCCTTTTAGATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTG... | pathogenic | 339,768 |
Determine if the mutation at chromosome X, position 149490433 in gene IDS is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | ATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGG... | ATTCAGTGTGGCGGGAATCTAAAAGGTCAAGGATCGAGAAGCCTGCAGGATGGCAACGTGAGGGAACCTGGCAGTGCGACCTCAGGAATCCACTCCCGGAACTCTGACTGGGGTGCCTGTGGAGGCTCTGAAGGTACAGCAGCCAGGCGCTCTGTGGCATTCTGAATACTGGCACGCAGCCTTCGGCCTCTGCCAGCTTTTGTGAGCTGCCCTGCACCAGGCAGAGGGGGCCCCCAGGCCTGGCACAGGGTCTGACACATGGCAAATGCTACAGAAATAGCTGTGGACCGCCTGACTGCAAGATCGTATTGAACATCTGG... | pathogenic | 339,769 |
Evaluate this variant at chromosome X, position 149496357, gene IDS: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | GGACCTGGACACAAGGGGGAGATAGAAATCCATACTCTAGCAATCCCCGTGAGGTAGAGCAAGGGAAGTGCTAGGAGAAGAGGTTGTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAG... | GGACCTGGACACAAGGGGGAGATAGAAATCCATACTCTAGCAATCCCCGTGAGGTAGAGCAAGGGAAGTGCTAGGAGAAGAGGTTGTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAG... | pathogenic | 339,775 |
Variant on chromosome X, at position 149496382, affecting IDS: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | AAATCCATACTCTAGCAATCCCCGTGAGGTAGAGCAAGGGAAGTGCTAGGAGAAGAGGTTGTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCC... | AAATCCATACTCTAGCAATCCCCGTGAGGTAGAGCAAGGGAAGTGCTAGGAGAAGAGGTTGTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCC... | pathogenic | 339,777 |
The chromosome X, position 149496442 genetic variant in gene IDS: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | GTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACG... | GTGGTCAGTATGGTGACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACG... | pathogenic | 339,789 |
Regarding the variant at chromosome X and position 149496457, affecting gene IDS: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | ACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACGGTCCTAGATACTTCT... | ACTCGGAAGGAGCAGGCAACAAACTCCTGAGTGTGGCCCCTGAGGTCACTGGCTCATGTAGAGCTGAGTTAGAGGGCTGGAGCTGAAGAGATCCCAGAGCTGAGTCTCAAGGGTGCAGTGAGATGGGCTTGGATGCGGACATCCAAAGCTACAAGAGGACAGTGAGCAGGCCAGAGTTCAAGGGGAACACAGGGCTGAGACCAGCACATGCAGGCATCAGGGAGGCCCTCTGAGTCATGCTGTCCACTGTGTGTAAGGAGGGGACTAAGAGAACTTGAAGGAGATAGCTCCGTGCAGCCGACACGGTCCTAGATACTTCT... | pathogenic | 339,790 |
Variant at chromosome position 149498182, chromosome X, gene IDS: benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Mucopolysaccharidosis,_MPS-II'] | ACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCC... | ACACTGGTTGGGAGAGTCCTGATCCAGGCAACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCC... | pathogenic | 339,810 |
Mutation found at chromosome X position 149498212, gene IDS: benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | ACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGT... | ACACTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGT... | pathogenic | 339,813 |
Evaluate if the mutation on chromosome X at position 149498215 in IDS is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | CTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGAT... | CTGCCTGTGTCCTAAATACCTATAGGACACCTCCACCCCAGCACTTTGCCTGATAACTCACACAAAGAAAGCTCTTAATAAGACATTATAGGTGGAGTTGTGTCTACTGAGAAGAGTGGTTTCACCTACGACACTATGTCATCAGTGTCCAATACATCCCCAAACTATGTCCTTGATACCTGAAAGTCCACAGGAATTGGACCATACGGCACACTGATGTTTAAGGCTTGGACGTCTTCCCGTTGCCTGATGTCCATCCAGGGGTTGTAGGCCACAGGGGGTAGGCCATCAGGGACCTCGGGATCGGGGGCCAGGGTGAT... | pathogenic | 339,814 |
A genetic variant at chromosome X, position 149500977, affecting gene IDS—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | TGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGG... | TGCCCATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGG... | pathogenic | 339,823 |
Variant in IDS, chromosome X, position 149500981—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | CATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGG... | CATAAAAACACTTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGG... | pathogenic | 339,824 |
The mutation in gene IDS at chromosome X, position 149500992—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | TTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGA... | TTGTACAAAAATGTCGAGGGCAGCATTATTCCTAATAGTCAAAAGTAGAAACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGA... | pathogenic | 339,826 |
Is the chromosome X, position 149501042 variant in IDS clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | ACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGC... | ACAACCCAAATATCCATCAAGTGATGAACTGATAAACAAAATGTGGTACAATAGACAATTATGCAGCCATAAAAAGGAATGAAAGGCTGGGTGCGGTGGCTCACACCTCTAATCCCAGCACTCTGGGAGATGAGTGGATTGCCTGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCATCGCTTGAACCTGGGAGGTGGAGGCTACAGTGAGCTGAGATTGC... | benign | 339,837 |
Gene IDS (iduronate 2-sulfatase) variant at chromosome position 149503318 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | GACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCA... | GACCCACAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCA... | pathogenic | 339,843 |
Chromosome X, position 149503324, gene IDS (iduronate 2-sulfatase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | CAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCA... | CAAGGACAAGATCAGTCAGCTCCTTAGAGCCCATGCTGAAACCTATCTCTCACCCTATGAAGGAGGCAGCAGAGGCATCAGCACCATCAGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCA... | pathogenic | 339,844 |
Does the variant impacting IDS (iduronate 2-sulfatase) on chromosome X, position 149503412, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | AGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGA... | AGGGAGCCGATGGGGGCAGGAGAGGGAGGCTCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGA... | pathogenic | 339,855 |
The mutation in gene IDS (iduronate 2-sulfatase) at chromosome X, position 149503442—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | TCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTG... | TCAGGGAAGGTATGTGACTTACCTATGCTAACCAGATATTAGATAAGGGAGCCAGGACTCAAAACCTTGTTTTAGAATTCCAAGTTCAAGTGCTCATTCATGAAGCAGAAACCCACCCTTAAGCTTAGTAGTTTATAGTTTATTTGTGAAGACAGTATAACAGCACTGGAAACCAAGGAAGGACTTCCAGCTTTCAAAAGCATCGAAGTGCCAAGTGGGGGATCCTCCAAGCACAGAGGTTATTGTGAGTCAGGTGAGGACTGGCAGGGAGGACTTCTAGGAGCCAGTGAGGCCTGTGAGGGATCTGAAGGGAAGTGCTG... | pathogenic | 339,859 |
Is the genetic mutation found on chromosome X at position 149504188, within the gene IDS (iduronate 2-sulfatase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | GAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTT... | GAACAAAGATTCAGCTGAAAAATGTGTTCCCACAAGGGCTGCAGGGAAAGGTTTATTCTCTGAGAAGGACATGGTGCTTAGAGCCTGGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTT... | pathogenic | 339,884 |
Benign or pathogenic: chromosome X, position 149504274, gene IDS (iduronate 2-sulfatase) variant? Disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | GGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAA... | GGTGCCAAAATCCAATCATCAGGAGGGAGGAGGTCAAGCAACATCACTCAGTCCTTGCCTGGTTTCCCCTCCCAAAGCACAATCTCCTCCCTCTGCTGTGTTTCCTCCTCTCTCCAAAATCATCACTTCCCTCCAGCTGCATTTGGGCAAGGGGTATGGTAATGAGAACACCAAACTGCAGAAAGTTCTCCTGACACTGGACTTTTGGCTGTGCAATATGATTCCTGACAGGTTCACCTCTGAAACTGGCCTGACTTAGTAGAGCTGAATGTCACTCTCAACCTGGGCTGGCCAGCTGAGCTCCTGCAGAAGGCTGCCAA... | pathogenic | 339,896 |
Clinical significance of chromosome X, position 149505080, gene IDS: benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | CCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCC... | CCCCAGCCTGTGTCCTCCCTACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCC... | pathogenic | 339,902 |
Variant in gene IDS, located at chromosome X position 149505100: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-II'] | ACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGG... | ACCACCCGAGGAGCTGAAAGACCCAACAGCACACCCTCAGTGGTTTCTGAAAGGAAGCAAAGCTCTTTCTACCCTTTTTCACTTTGGGTGAAAACGTGGCTGGGTTGACAAGTCAGTTTTTTAGAAAGGAAGCACTGACTAGCGAGGGACTCGCCCAGCCAGAAGAGGGCTCTGCAAAGACAGCCCCATCCCCAGGATGGGAATGCTGGATTCAGACACCACAAACCAAGAGAACCCAGACTCTGGACATGGAGCAGTACCAGGGTGAAAGACTTTTCCCACCGACATGGTCACATAGCCATTCTCCTTGAAGTACTGGG... | pathogenic | 339,904 |
Does the variant on chromosome X at location 150592682 affecting gene MTM1 (myotubularin 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GGATTTCGTCCTTTATATTCATTTTAAATTGAAATTTTTTCATGAAAATCAGAAATAGCAGGAAGACTCATCATTCTTTTATGGCCCATGAATAAACAGGGTGGTGACGTTGACTGAGTTGACTGTACAACCAGGATTTTAGATTTTTTCTACTGACTTGATAGTAAGAATTTAACTTTTTGTTTTAAAATGTTGACTTACATTAGTGAAGCATTTTAAATATTAAAGTATCTATACTAAAAGGTAGTTTTATATCTGTTACTGAAGAAAATCTGCCCCTAATATATAGTCTTGTTTTGTCAATAGAAAAATTTCAGAGC... | GGATTTCGTCCTTTATATTCATTTTAAATTGAAATTTTTTCATGAAAATCAGAAATAGCAGGAAGACTCATCATTCTTTTATGGCCCATGAATAAACAGGGTGGTGACGTTGACTGAGTTGACTGTACAACCAGGATTTTAGATTTTTTCTACTGACTTGATAGTAAGAATTTAACTTTTTGTTTTAAAATGTTGACTTACATTAGTGAAGCATTTTAAATATTAAAGTATCTATACTAAAAGGTAGTTTTATATCTGTTACTGAAGAAAATCTGCCCCTAATATATAGTCTTGTTTTGTCAATAGAAAAATTTCAGAGC... | benign | 339,925 |
Is chromosome X, position 150596546, gene MTM1 (myotubularin 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | TTTTGATTTTGAAATACTGAAGTTTAAAGTTTTTATGTGATCACATATATCAATCTATATTTTCTGTTTTGGGTGCCTACAAGGACCATCCTCATCTCCAAGATTATATGTTTTTATTGTATTTAAGTATTTTTATGTTACCAGAATCAGTTCTAAACACAGGAGTAATTTCAAGAATGTAACTATAAATCCTTTGTGTAATGCTGCTCTGGTATAATGTATAGCCTATGTTAATCCCATGTTATCCTGTTTTAATCAGACATTCACTTCCCTTATTTTGTGGTTGACCTAGAACTGTGGTATTTAAAAGGTATACTGAG... | TTTTGATTTTGAAATACTGAAGTTTAAAGTTTTTATGTGATCACATATATCAATCTATATTTTCTGTTTTGGGTGCCTACAAGGACCATCCTCATCTCCAAGATTATATGTTTTTATTGTATTTAAGTATTTTTATGTTACCAGAATCAGTTCTAAACACAGGAGTAATTTCAAGAATGTAACTATAAATCCTTTGTGTAATGCTGCTCTGGTATAATGTATAGCCTATGTTAATCCCATGTTATCCTGTTTTAATCAGACATTCACTTCCCTTATTTTGTGGTTGACCTAGAACTGTGGTATTTAAAAGGTATACTGAG... | pathogenic | 339,929 |
Does the variant impacting MTM1 (myotubularin 1) on chromosome X, position 150598574, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCACTGAGGCTGTTCCTCGACTTCCAGGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCA... | TCACTGAGGCTGTTCCTCGACTTCCAGGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCA... | benign | 339,931 |
A genetic variant on chromosome X, position 150598593, affects the gene MTM1 (myotubularin 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Centronuclear_myopathy', 'MTM1-related_disorder', 'Severe_X-linked_myotubular_myopathy'] | ACTTCCAGGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCA... | ACTTCCAGGAGAAACACTAATCACTGGTAAGGACCTGCTGACATAAGATTTGCATAACTTGAGGAGAAGTCTGGCAGGATCAGGTGGCTTCAGTCCCGCTTACTCTTTAGCAGTCAGGCTTAGACAAATAGGCTACCTTTGTTTAGAAGCGTTAACACAGAACTCTCTGCATCCCTTTCTTGATTAAAGAGTTCTTTTGAGAGCTTCATGCTCACAAGGGTAGTGATATTCTTGTGTCTGTACCAAAGACTGAGAATGATTTAGGGGAAAAAAATGTGGATTATCTCTTGAAAGTCTCTCATTGGAGCCATAAGCTCTCA... | pathogenic | 339,932 |
For chromosome X, position 150614694, gene MTM1 (myotubularin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | ACCAGCCTGGACAACATAGTAAGACTCTGTCTCTACAAAAAACTTTTAAAAAATTTGGCTGGGCATGGTGGCTCATGCTTATAATCCTAGAACTTTGGGAGGCCGAGGCAGGTGTATTACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGAC... | ACCAGCCTGGACAACATAGTAAGACTCTGTCTCTACAAAAAACTTTTAAAAAATTTGGCTGGGCATGGTGGCTCATGCTTATAATCCTAGAACTTTGGGAGGCCGAGGCAGGTGTATTACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGAC... | pathogenic | 339,937 |
Variant at chromosome position 150619125, chromosome X, gene MTM1 (myotubularin 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | TTTCTACTTCAGTTTTGTTGGCAAGAAATAATATTCTGTCTTTAATTGCATCTTAATCAGATGGCAAAAAGAAGTTACTTGAATCACTTGTGCTTTGGCACATTAAAAGTAGCTGTTTGAATCACTGATAGATCAGAATAAATATTCATGTAGAGATGGTCTAATTTCTGGCCAAGCAGTGAAGAGAACGATGTTACAGAGTTACCATCTGACTTGCGGCTGTTAGGAAGAAAGTTCCTCACAGGGCCTGAGCCCTGAGAATGCTCAGCTCTCCAGTATTGCACTTGTGGCTGGTCGTAAACCCTTGTAATGCATATCAT... | TTTCTACTTCAGTTTTGTTGGCAAGAAATAATATTCTGTCTTTAATTGCATCTTAATCAGATGGCAAAAAGAAGTTACTTGAATCACTTGTGCTTTGGCACATTAAAAGTAGCTGTTTGAATCACTGATAGATCAGAATAAATATTCATGTAGAGATGGTCTAATTTCTGGCCAAGCAGTGAAGAGAACGATGTTACAGAGTTACCATCTGACTTGCGGCTGTTAGGAAGAAAGTTCCTCACAGGGCCTGAGCCCTGAGAATGCTCAGCTCTCCAGTATTGCACTTGTGGCTGGTCGTAAACCCTTGTAATGCATATCAT... | pathogenic | 339,940 |
Classify the chromosome X variant at position 150641287 affecting gene MTM1 (myotubularin 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | TCGAAGACTGGGTCACTAAATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTA... | TCGAAGACTGGGTCACTAAATCCTATTTCCTTCCCTATATGAAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTA... | pathogenic | 339,946 |
Assess the variant on chromosome X, position 150641328, impacting MTM1 (myotubularin 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | AAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGT... | AAGAGCATCAATTCTGTGTTGTTTATGAAATGAATTAAATACTTAGGATTTAGAAAAGTCAAACATTTTAGAAGTTACACTTTAGGACTTGATATTGCTATGTATATGCATGTTTGGGAGCTTAACTATTACCTGCAGTTAGATTTAAATTATATTCATTTCAGTTTGCAGATTCAAATGAATTAGAACTGTTTTCCTGTAGTGATGTCTTTTTCAAGGAAGCTTTGATAAGTGTACATTATAATTGTCTTTACTGTTCTCTTATATGAATGTCACCTACATGCATGTTTATTTGCTATAATAAAGGCAAGAGGCTTGGT... | pathogenic | 339,951 |
Evaluate if the mutation on chromosome X at position 150645815 in MTM1 (myotubularin 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | TGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAATCCCCCCTCCTGCAAAGAAATTAAGAGGAGAAACAACTCAGAGGAGTAGCATTTCCTAACATGGCACCACAAAGAGAATAGGGGTCGGGAGGCCATTGCCTATGGCCCGACTGAAATTTACAACTTGAT... | TGTAATAAACATCTTTCAGTGGTTAGATATTTGTGTACTTAATTATCTATGGCTTCTAGATATGAATTTTAATAAGAATAATACAGTGCCATATACTGTAAAAGCACTCATGGTAGTTGACACTGTGAAATGAACATTATTTGTACCTGTTTAGCTCTGTAATAAGCATCCTTTTCAAAAAGTAGTAAGAATCCCCCCTCCTGCAAAGAAATTAAGAGGAGAAACAACTCAGAGGAGTAGCATTTCCTAACATGGCACCACAAAGAGAATAGGGGTCGGGAGGCCATTGCCTATGGCCCGACTGAAATTTACAACTTGAT... | pathogenic | 339,958 |
Clinically, how would you classify the variant at chromosome X, position 150649796, gene MTM1 (myotubularin 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | ATTTAGAAATTTACATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGG... | ATTTAGAAATTTACATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGG... | pathogenic | 339,963 |
Gene mutation in MTM1 (myotubularin 1) at chromosome X, position 150649810—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | ATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAATAAT... | ATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAATAAT... | pathogenic | 339,964 |
Gene MTM1 (myotubularin 1) variant at chromosome position 150649810 on chromosome X: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | ATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAATAAT... | ATCCCCAGATGCAACAAGCAACGGCACATCATTTTAAATTAAACAAAATCCAAGGATTGGTAAGATCTAGCAGCAAGCCGCTTCTATTTTTGTGGCGGTACATCGTGATGAATTAATGTGGAACTGTGCTAATGTCTGTTTTTACCAGAAACATTAGCGATGAGTAATAAAGTATATTTTTCCTTTTATTTTTTCACTTATTTTCAGTTATTTATGAAGAGAACTCTAGTTTCAAGAATCTCTTTGAAAATCACCATAACTATTTAAAAACCACATGTGTAGAGAAGCAGGAAGAGGAGAAAGTGGCCCACTTAAATAAT... | pathogenic | 339,965 |
Does the variant impacting MTM1 (myotubularin 1) on chromosome X, position 150657853, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | CATTATGGTGATAATTGCACAACTGTATAAATTTGCTAAATCTTATTGCACTCACACTCAGGATGGGTATATTCCATTGTTTATAAAGTATGTTTCTGTAAATGCATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGT... | CATTATGGTGATAATTGCACAACTGTATAAATTTGCTAAATCTTATTGCACTCACACTCAGGATGGGTATATTCCATTGTTTATAAAGTATGTTTCTGTAAATGCATGAATCATCAAAAAATGACATCATAGCAATAACTTGTTATATACATAAATTTATTGATACTTCTAAGTCTCAAATTTTTACTAGAATACTTTCACTTTAAGTACCCTACTGATTATGAGCCAGATAAGAGTTGATATATTGCCAATTTAAAGGTCAAAAGGTGGATTTCACTGTATCAGACTTTTACAGTCTAGACGCGACCTGTTGGGTCAGT... | pathogenic | 339,969 |
Variant chromosome X, position 150659706, gene MTM1 (myotubularin 1): benign or pathogenic? Disease(s)? | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | TAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATTGAAGGGTTCG... | TAGAGGACGATCAACAGATCCTGCAGCTCTTAGTGTTTCCTTTTGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATTGAAGGGTTCG... | pathogenic | 339,981 |
Chromosome X, position 150659749, gene MTM1 (myotubularin 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | TGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATTGAAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATT... | TGATAAATCTTTGTTCTGGACGTTAATATTTTAAAGCATGGCTTTTTCTAAGTTTAAAAACTATCAAATGTAAGCAGTATCTTATAACTCCCTACTGACTCACGTATTTTTCTTTGTCAGCTCGTTTTGACAGGAGCCATTCAAGTAGCAGACAAAGTTTCTTCAGGGAAGAGTTCAGTGCTTGTGCATTGCAGTGACGGATGGGACAGGACTGCTCAGCTGACATCCTTGGCCATGCTGATGTTGGATAGCTTCTATAGGAGCATTGAAGGGTTCGAAATACTGGTACAAAAAGAATGGATAAGTTTTGGACATAAATT... | pathogenic | 339,983 |
Considering the variant on chromosome X, location 150660478, involving gene MTM1 (myotubularin 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | ACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTCTCATGAAGGGGATCTGTAGGCTACCCTT... | ACATGATGACTGTAGTTAATATATTTTTGAACAATGTTAAAAGAATGGATGTAAAGTTTTCTTACCACAAAAATGGTAACTATGAGGTAATGTGTATGCTACACATTAAACAGACAGTCAATATATATAAATTTCTCTCTCAATTAAAAATAAATAAAAATTTTTTAAAATAACCCCCCCAAGAAAATTTTTTTAATGAAATCATCAAAAGAACATACTAAAATTCATATTCCTAGGTCTTATTTCCAGATGCCCTCTGAATATACATTTTGACCCAGCTCCCCAGTGATTCTCATGAAGGGGATCTGTAGGCTACCCTT... | pathogenic | 339,991 |
Regarding the variant found on chromosome X at position 150663473 in gene MTM1 (myotubularin 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | TCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACTTGAACCTATAGTA... | TCCCACTATTGGGTACATATCTAAAGGAAATGAAATCATCATGTCAAAGAGGTTATCTGCAATCTCATGTATATTGCAGCAGTATTCACAGTAGCCAAGATATGGACTCAACCTGTGTCCATCAACAGATGAATAAAGAAAACGTAGTACCTATATACAGTAGACTACTACTCAGCCATAAAAAATGAAATCCTACCATTTGCAACAACATAAGTAAATCTGGAGGACATTATGCTAAGCGAAATAAACCAGGCACAGAAAGACAAATACCACATGATTTCCCTTATGTGTGGAATCTAAGAAAACTTGAACCTATAGTA... | pathogenic | 339,996 |
Gene mutation in MTM1 (myotubularin 1) at chromosome X, position 150671571—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Severe_X-linked_myotubular_myopathy'] | AGCATCTATCATTTCCTGACTTTTTAATAATCGCCATTCTGACTGGCATGAGATGGTATCTCACTGCGGTTTTGATTTGCATTTCTCTGATGATCAGTGATGATGAGCTTTTTTTCATATCTTTGTTGGCCGCATTGTGTGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTTGCCTACTTTCTGATGGGGTTGTTTATCTTTTATTTTTATAAATATGTTTAAGTTCCTTGTAAATTCTGAATATTAGACCTTTGTCAGATGAGTAGATTGCAAAAATTTTCTCTTATTCTATAGATTGCCTGTTCACTCTGATGCTA... | AGCATCTATCATTTCCTGACTTTTTAATAATCGCCATTCTGACTGGCATGAGATGGTATCTCACTGCGGTTTTGATTTGCATTTCTCTGATGATCAGTGATGATGAGCTTTTTTTCATATCTTTGTTGGCCGCATTGTGTGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTTGCCTACTTTCTGATGGGGTTGTTTATCTTTTATTTTTATAAATATGTTTAAGTTCCTTGTAAATTCTGAATATTAGACCTTTGTCAGATGAGTAGATTGCAAAAATTTTCTCTTATTCTATAGATTGCCTGTTCACTCTGATGCTA... | pathogenic | 340,000 |
Mutation at chromosome X, position 152858752, within NSDHL (NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TGAGCATTTTGAGCCTCTCAAAACATAACAGTAGTGGATGACAATGCATTTTGATTTCAAAAAGAATCCGTGGGCTGGGTGCAGGGCTAGCGCCTGCAATGCCAGCACTTTGGGAGGCCAAGACAGGTGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTTGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCCGGGCATGGTGGCATACGCCTGTAATCCCAGCTACTCGGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTTGCC... | TGAGCATTTTGAGCCTCTCAAAACATAACAGTAGTGGATGACAATGCATTTTGATTTCAAAAAGAATCCGTGGGCTGGGTGCAGGGCTAGCGCCTGCAATGCCAGCACTTTGGGAGGCCAAGACAGGTGGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTTGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAAATTAGCCGGGCATGGTGGCATACGCCTGTAATCCCAGCTACTCGGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTTGCC... | benign | 340,042 |
Gene BGN (biglycan) variant at chromosome X, position 153504689—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Meester-Loeys_syndrome'] | CGGCCTGAGGCTGGCAGGCCCTGGGCTGCAACTGTGGGATCTCAAGGCTCAAAAGAATGAGGGAGGCTCGGTGCTGCCCCAGCAGGGGCCTCCTGGTGACCCCAGGGGTCAGCATGAAGTCCAGCTCCACATGAGGGGGAAGCTGAGCTAAGCCTTGGGCTCCGACTCCCACTTTGCAGTGTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTC... | CGGCCTGAGGCTGGCAGGCCCTGGGCTGCAACTGTGGGATCTCAAGGCTCAAAAGAATGAGGGAGGCTCGGTGCTGCCCCAGCAGGGGCCTCCTGGTGACCCCAGGGGTCAGCATGAAGTCCAGCTCCACATGAGGGGGAAGCTGAGCTAAGCCTTGGGCTCCGACTCCCACTTTGCAGTGTGGCCCAGGGCCTGTGGGCTCAGGAGGGCTCCGGGGCTGGCTGCGGAAAGGCCACTCCACAGGCCTGGCAGCCGCTATAGCCACAGCCTCACCACAGGCCCCTCTGTCCACAGGTGTGGGAGGGCGCATGGGTGGCTTC... | pathogenic | 340,072 |
Is chromosome X, position 153688662, gene SLC6A8 (solute carrier family 6 member 8) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Creatine_transporter_deficiency'] | TCTATGAGTCACTTCTCTAATGCCCCTGTCTCCAGACCAGCTTCAGTCAAAGGCTGGGCCAGAGAAGACCCTAGTGAGAAACTTCTGATGAGCAGTGTGACCTTGCCACCTCAGGGGTACCCACCCACCACCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCC... | TCTATGAGTCACTTCTCTAATGCCCCTGTCTCCAGACCAGCTTCAGTCAAAGGCTGGGCCAGAGAAGACCCTAGTGAGAAACTTCTGATGAGCAGTGTGACCTTGCCACCTCAGGGGTACCCACCCACCACCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCC... | pathogenic | 340,181 |
Is the genetic change at chromosome X, position 153688762, within gene SLC6A8 (solute carrier family 6 member 8) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Creatine_transporter_deficiency'] | CCTTGCCACCTCAGGGGTACCCACCCACCACCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCAC... | CCTTGCCACCTCAGGGGTACCCACCCACCACCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCAC... | pathogenic | 340,187 |
A genetic alteration at chromosome X, position 153688792, in gene SLC6A8 (solute carrier family 6 member 8)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Creatine_transporter_deficiency'] | CCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAA... | CCCCTGGTCTAAGCACAGGTGACACCGCCTGTCTCCCCCAACCACACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAA... | pathogenic | 340,189 |
Benign or pathogenic: chromosome X, position 153688836, gene SLC6A8 (solute carrier family 6 member 8) variant? Disease(s) if pathogenic? | pathogenic; ['Creatine_transporter_deficiency'] | CACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAAAATTCTAAACAAGCTGCTCAGCTGGCGGCGGAGAGGCAGCCCAA... | CACACACCCCTTGAGGCTCCTCCTCCAAGCCTGGGTGGGGACACTGTCCCTCCCTCACCCAGCAAGCTCAATCTGGCTTGGGCCGGAACTGCTTTTCTTCCTAAAGCTGGACGGATGGCCGCGGGCTTAGCTTAACGGGATGAGCCATCTGGGGACTGCAGTGTCCACGATCAGATCAGGGAGCTTGAAGCTGAGGGGGGCACACTTTACCTCCCAGGCCAGGACAATGACCACTTCCTTCCCCACCCCACCCCCAGGCTACTCTTAGCCCTAGAAAATTCTAAACAAGCTGCTCAGCTGGCGGCGGAGAGGCAGCCCAA... | pathogenic | 340,191 |
The mutation impacting SLC6A8 (solute carrier family 6 member 8) on chromosome X at position 153690427: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Creatine_transporter_deficiency', 'Inborn_genetic_diseases'] | ACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGA... | ACTGCTTCTGACTGCGCCGCCCGCGCCCCGCACCCCGCCGCCCGCCCGCCGCCCCGTCCCCCGGCCCGGCCGCCCCCCGGCCCCCGGCCGGCCCGCGCCCTCGGGGCCCTCCCCGGTGCCGCCGGTGCCCCCCGCCTGACCGCCGCCCCCCGTGAGGCGCCGCGACCCCGGCCCGGCCGTGCGGCCCGCCGAGGCCATGGCGAAGAAGAGCGCCGAGAACGGCATCTATAGCGTGTCCGGCGACGAGAAGAAGGGCCCCCTCATCGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCCCGTGGGCCTGGGGA... | pathogenic | 340,194 |
Variant chromosome X, position 153691364, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? Disease(s)? | pathogenic; ['Creatine_transporter_deficiency'] | CCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGA... | CCGGGCCTGGAACACTGGGTGCCCGAGCCAGGCTTGGGAAGCCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGA... | pathogenic | 340,202 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 153691405, gene SLC6A8 (solute carrier family 6 member 8). What disease(s) is it linked to if pathogenic? | pathogenic; ['Creatine_transporter_deficiency'] | CCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAG... | CCTGCGGCCTGGCCCGCCTGGCGCCGCCACTGGACACACTGCATGCACGTCCCATGCCCGCCCGCCCGCCCGCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAG... | pathogenic | 340,206 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 153691476, gene SLC6A8 (solute carrier family 6 member 8). What disease(s) is it linked to if pathogenic? | pathogenic; ['Creatine_transporter_deficiency'] | GCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGAT... | GCCCGCCCGGGCCCAGCTTAGCAACAGCGATGGGCACGCGTGTGTCCTGTGACTACAAAACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGAT... | pathogenic | 340,214 |
Gene mutation in SLC6A8 (solute carrier family 6 member 8) at chromosome X, position 153691534—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Creatine_transporter_deficiency'] | AACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAG... | AACAGCACTGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAG... | pathogenic | 340,218 |
Gene mutation in SLC6A8 (solute carrier family 6 member 8) at chromosome X, position 153691542—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Creatine_transporter_deficiency'] | TGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCT... | TGGGGTTGCTGGAAGCCGAAGTGACCCGGTGATGGGTGGGAAACAGAGGTCCAGAGCAAAGGCCTTTGCCCAAGGTCAGGAGAAGGATGCTGGGACCTGGAGTCAGGCAAGTTGCAGCCAAGCTCAGCCTCTGAGTAGTGGAGCGAGCCCAGCCAGGGCAAGGGTAGGAGGCCCAGAGAGGAGAAGGGGGTAGTGGCACCCAGCTCTCCCTGCCCTTCTGCCACCCCCACCCCAGCCTGCTGGCCTCAGGAGATAGGCCTGTGTCACGCCCTGCCTATCTCCTGCAGAGCCTGACTCCCTGGCCTTGCTAAGGCCGGCCT... | pathogenic | 340,220 |
Considering the genetic mutation at chromosome X, position 153692074, impacting SLC6A8 (solute carrier family 6 member 8): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Creatine_transporter_deficiency'] | TGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACC... | TGCCTGAAACAGGGAATTGCAGCACTAGGGACAGCCCGCGTGTCTGAGCGTGTGTGTCCTCCATGGCCATCGCCCCAAGTGACCGTGGGGGTGGAAGCCCTGGGGGCCTAGGGCCCCTCTGCCACCCAGGGAATAGGGCTCCAATGGCTCAGGGGCTACTGTAGCCCCTCTTCAACACACTCAACCCACCCCCTCAAGACTCCACCTGGGGCCTGAGTCAGTGGCCACCCCTACACTGACTCACCCAGTCGGAAGTTGTGATGGGGCCTTTGGAGTCTGGGCTGGCCCGCTGGGCCTGGGCAGCCTGGCTGGGGGCCACC... | pathogenic | 340,232 |
A genetic variant on chromosome X, position 153693116, affects the gene SLC6A8 (solute carrier family 6 member 8). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Creatine_transporter_deficiency'] | GAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGG... | GAGGGGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGG... | pathogenic | 340,244 |
A genetic alteration at chromosome X, position 153693120, in gene SLC6A8 (solute carrier family 6 member 8)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Creatine_transporter_deficiency'] | GGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAA... | GGCTCGCTCTGCCTTGGGTCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAA... | pathogenic | 340,246 |
Considering the genetic mutation at chromosome X, position 153693138, impacting SLC6A8 (solute carrier family 6 member 8): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Creatine_transporter_deficiency'] | TCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCT... | TCTAGGGGGCGGCTGGAGGAGAGGAGACAGGCTGGGGAGTCAGCGCAGTGTTGGGGCTCACACAAGGGGGAGCCCAGGGGAGTCAGGAGCACCACAAACAAGGCTCCAGGAGGACAGATGGTGGGAGCACGGCCAGCCTGGGTGGGGACATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCT... | pathogenic | 340,247 |
A genetic alteration at chromosome X, position 153693287, in gene SLC6A8 (solute carrier family 6 member 8)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Creatine_transporter_deficiency'] | ATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAG... | ATAAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAG... | pathogenic | 340,256 |
Determine if the mutation at chromosome X, position 153693289 in gene SLC6A8 (solute carrier family 6 member 8) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Creatine_transporter_deficiency'] | AAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTC... | AAAGGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTC... | pathogenic | 340,257 |
Assess the variant on chromosome X, position 153693292, impacting SLC6A8 (solute carrier family 6 member 8): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Creatine_transporter_deficiency'] | GGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGG... | GGGGTGGCAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGG... | pathogenic | 340,258 |
Variant in SLC6A8 (solute carrier family 6 member 8), chromosome X, position 153693299—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Creatine_transporter_deficiency'] | CAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCT... | CAGGGGGAGGTGGCCAGGGAAGAATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCT... | pathogenic | 340,259 |
Variant at chromosome position 153693321, chromosome X, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Creatine_transporter_deficiency'] | AATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCC... | AATCTACATGGCAAGGACTTCCCGGCCCCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCC... | pathogenic | 340,261 |
Does the genetic variant at chromosome X, position 153693348, impacting gene SLC6A8 (solute carrier family 6 member 8), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Creatine_transporter_deficiency'] | CCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCC... | CCAGGCCTGGGCTACGCCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCC... | pathogenic | 340,265 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome X, position 153693364, gene SLC6A8 (solute carrier family 6 member 8). What disease(s) is it linked to if pathogenic? | pathogenic; ['Creatine_transporter_deficiency', 'Intellectual_disability'] | CCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGA... | CCTCCATGGTGATCGTCTTCTACTGCAACACCTACTACATCATGGTGCTGGCCTGGGGCTTCTATTACCTGGTCAAGTCCTTTACCACCACGCTGCCCTGGGCCACATGTGGCCACACCTGGAACACTCCCGACTGCGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGA... | pathogenic | 340,266 |
Mutation found at chromosome X position 153693500, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Creatine_transporter_deficiency'] | CGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGG... | CGTGGAGATCTTCCGCCATGAAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGG... | pathogenic | 340,275 |
Variant in gene SLC6A8 (solute carrier family 6 member 8), located at chromosome X position 153693520: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Creatine_transporter_deficiency', 'SLC6A8-related_disorder'] | AAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGG... | AAGACTGTGCCAATGCCAGCCTGGCCAACCTCACCTGTGACCAGCTTGCTGACCGCCGGTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGG... | pathogenic | 340,277 |
Mutation found at chromosome X position 153693578, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Creatine_transporter_deficiency', 'Inborn_genetic_diseases'] | GTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAAT... | GTCCCCTGTCATCGAGTTCTGGGAGTGAGTCCGGCACCTCTGGGCCAAGCCCATCCCATCCCCCAGGTCTCCCTCATGTTGCCCGGCTCCAGGGGAGTGGCCCTGAGGGGGCACCAGGGTGTTGCCTGGCAGTCCATCCTGGACCCTGCCTGCCCTTGCCTGTCCTCGGAGAGTCCTGGGGCCAGCCTCGCTCCTGGGTTCGGCAGCCGATCACTGTCCTGGTCACTCCCCCCTGATGGGGGAGCTGGGGCTGCATGTGAGGTGGGATGGGAGTGGCCTCCCAATGGCCAGGGGATCGTGGGCTCCAGGCCCAGCCCAAT... | pathogenic | 340,279 |
Clinically, how would you classify the variant at chromosome X, position 153693903, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Creatine_transporter_deficiency'] | AAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCAC... | AAGAGGGACCCGCTGAACCCTGGGCTGTGGGAGAGAAGGGAGCCACAACTCCTGGGGGTGGACCCTGTGGCTCCATCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCAC... | pathogenic | 340,284 |
Located at chromosome X position 153693978, the variant affecting gene SLC6A8 (solute carrier family 6 member 8)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Creatine_transporter_deficiency'] | TCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCT... | TCCTCTGCTGGCACAGGCCTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCT... | pathogenic | 340,294 |
Is the chromosome X, position 153693996 variant in SLC6A8 (solute carrier family 6 member 8) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Creatine_transporter_deficiency'] | CTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCA... | CTCATGGGACCTCCCTCCCTCCCCTAGGAACAAAGTCTTGAGGCTGTCTGGGGGACTGGAGGTGCCAGGGGCCCTCAACTGGGAGGTGACCCTTTGTCTGCTGGCCTGCTGGGTGCTGGTCTACTTCTGTGTCTGGAAGGGGGTCAAATCCACGGGAAAGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCA... | pathogenic | 340,295 |
Does the chromosome X mutation at position 153694154 within gene SLC6A8 (solute carrier family 6 member 8) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Creatine_transporter_deficiency'] | AGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGA... | AGGTACCACTAGAGGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGA... | pathogenic | 340,300 |
Does the variant on chromosome X at location 153694167 affecting gene SLC6A8 (solute carrier family 6 member 8) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Creatine_transporter_deficiency'] | GGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGT... | GGCATGCAGCGGGGAGGGTGGCTCAGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGT... | pathogenic | 340,305 |
The mutation impacting SLC6A8 (solute carrier family 6 member 8) on chromosome X at position 153694191: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Creatine_transporter_deficiency'] | AGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCC... | AGCCCTGGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCC... | pathogenic | 340,306 |
Does the genetic variant at chromosome X, position 153694197, impacting gene SLC6A8 (solute carrier family 6 member 8), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Creatine_transporter_deficiency'] | GGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCA... | GGGAGCCGGATGTCTGTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCA... | pathogenic | 340,307 |
Determine whether the variant at chromosome X, position 153694212, in gene SLC6A8 (solute carrier family 6 member 8) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Creatine_transporter_deficiency'] | GTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACC... | GTGCCAGGCACACCTGTGGCAACGGGAGGTGACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACC... | pathogenic | 340,308 |
A genetic variant at chromosome X, position 153694243, affecting gene SLC6A8 (solute carrier family 6 member 8)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Creatine_transporter_deficiency'] | ACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGG... | ACCAGACAGAGTCTAGCCCTAAGGAAGGGGGAGGTACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGG... | pathogenic | 340,309 |
Chromosome X, position 153694278, gene SLC6A8 (solute carrier family 6 member 8): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | ACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAG... | ACTGAAAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAG... | benign | 340,310 |
Variant at chromosome position 153694283, chromosome X, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Creatine_transporter_deficiency'] | AAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAG... | AAGCCAAGCAATGCTCCCCACCCTGCAAATCCAGGGCCCAGCAGCCTTTGCTCCTGGGGATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAG... | pathogenic | 340,311 |
Is chromosome X, position 153694342, gene SLC6A8 (solute carrier family 6 member 8) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Creatine_transporter_deficiency'] | ATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCC... | ATAGAGGCCCTGGCAGGCACTGTCCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCC... | pathogenic | 340,313 |
Is the genetic mutation found on chromosome X at position 153694365, within the gene SLC6A8 (solute carrier family 6 member 8), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Creatine_transporter_deficiency'] | CCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCA... | CCCTTCCCTGTGCCCATCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCA... | pathogenic | 340,318 |
A genetic alteration at chromosome X, position 153694381, in gene SLC6A8 (solute carrier family 6 member 8)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Creatine_transporter_deficiency'] | TCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCC... | TCACCCCCACTGGTGCCCTCCTGCCAGTCTCTGACTCTTGTGACAGTCTGGTGGACCTGGTCTGGCCATCTGTTACCTATCTTGCCTTGGGGACCCAGAGCAGAGTCTGGCCACATCCCTTGGGGGCTCCTGGTCAGGCTGGGGAGTCACCTGAACAAAGAAGACAGTGTCTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCC... | pathogenic | 340,322 |
Considering the variant on chromosome X, location 153694551, involving gene SLC6A8 (solute carrier family 6 member 8), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Creatine_transporter_deficiency'] | CTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTC... | CTAGAGCTGTGGGACATGGCCAGCTCCCTGGGGGACAAGGTCCCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTC... | pathogenic | 340,343 |
The mutation impacting SLC6A8 (solute carrier family 6 member 8) on chromosome X at position 153694593: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Creatine_transporter_deficiency'] | CCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCAC... | CCCAGAGCAGCATGTGGGAAGAGGGGGCAGACAGTGTGGCAGCTGCATCTCGCCTGCCTCTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCAC... | pathogenic | 340,350 |
Gene SLC6A8 (solute carrier family 6 member 8) variant at chromosome X, position 153694652—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGC... | CTGCCTGGCCCAGTTCCACTCTCCACCTGCTCAACCCCCACCTCTCTCCAGAAGAGGAGGGGGACCCGACCCGGATCCAATATCCCGCTCCCTGCCTGGGCCTCCCACACCTGCACTGCCCACACACTCATACAGCTCTCACTCCCCACGTGCTCCACGCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGC... | benign | 340,351 |
Gene mutation in SLC6A8 (solute carrier family 6 member 8) at chromosome X, position 153694810—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Creatine_transporter_deficiency'] | GCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGT... | GCCTCCTGTCCCCACTGAGGAGAGCTCCCAGAGGCTCGCCTGCTCCCCACCGACACGCGTCCCTGCAGACAAACGAGGCGCCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGT... | pathogenic | 340,371 |
Is the variant located on chromosome X at position 153694890, gene SLC6A8 (solute carrier family 6 member 8), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Creatine_transporter_deficiency'] | CCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGC... | CCCAGGGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGC... | pathogenic | 340,380 |
Clinically, how would you classify the variant at chromosome X, position 153694895, gene SLC6A8 (solute carrier family 6 member 8): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGG... | GGAGCTTCCCCACTGCACTTGGCCAGGGCTGCCGGGGCGCAGCCTTGCCCCTAGCTTCCTCTGGCGGGAGCCATGGCTCGGAGGACAATGGGGACCTCTGAACATACCTGCCCGCAAGGGGGACCGGAGGCGCTGGGAGTGGGGGTGTGAGGGAGGTGGTGCCACAGCCTCCGCTGAGCAGCCTGGCCCCCCAGATCGTGTACTTCACTGCTACATTCCCCTACGTGGTCCTGGTCGTGCTGCTGGTGCGTGGAGTGCTGCTGCCTGGCGCCCTGGATGGCATCATTTACTATCTCAAGCCTGACTGGTCAAAGCTGGGG... | benign | 340,381 |
Considering the genetic mutation at chromosome X, position 153704069, impacting BCAP31 (B cell receptor associated protein 31): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Severe_motor_and_intellectual_disabilities-sensorineural_deafness-dystonia_syndrome'] | GCTCCTCCAGCAAGCGGTCGTACTCCTTGGTGAGGCCCTCAGACTGCTTCCGCATGGCCAGAACCTGGTTTTCAGCTTTCTCTAGTTCTTGAAATGATGTAAATGACCAAGAAAACAGAAACGAAAAGACAGGAATTAGGGGGAAAAAACCCGACTGCTACAGACACCAGAAACTGGCCCAAATCTATCTCAAACGAGGTTATACAGGAGGCTACTTCTCAAAATAAAGCCCCTCTGCTTTTGCAGGCCCCCAAAGTAGAGGGAAAGGGCTGACAAAAAAGCTCAAGATAAAGCAAAAGAAACACAGAGGCCATCCCCCA... | GCTCCTCCAGCAAGCGGTCGTACTCCTTGGTGAGGCCCTCAGACTGCTTCCGCATGGCCAGAACCTGGTTTTCAGCTTTCTCTAGTTCTTGAAATGATGTAAATGACCAAGAAAACAGAAACGAAAAGACAGGAATTAGGGGGAAAAAACCCGACTGCTACAGACACCAGAAACTGGCCCAAATCTATCTCAAACGAGGTTATACAGGAGGCTACTTCTCAAAATAAAGCCCCTCTGCTTTTGCAGGCCCCCAAAGTAGAGGGAAAGGGCTGACAAAAAAGCTCAAGATAAAGCAAAAGAAACACAGAGGCCATCCCCCA... | pathogenic | 340,406 |
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