single nucleotide variant | NM_000169.3(GLA):c.274G>A (p.Asp92Asn) | GLA | Pathogenic | X | 100658894 | 100658894 | C | T | criteria provided, single submitter | ClinGen:CA16616754 |
single nucleotide variant | NM_000169.3(GLA):c.670A>G (p.Asn224Asp) | GLA | Pathogenic | X | 100653904 | 100653904 | T | C | criteria provided, single submitter | ClinGen:CA413924981 |
single nucleotide variant | NM_000169.3(GLA):c.708G>T (p.Trp236Cys) | GLA | Pathogenic/Likely pathogenic | X | 100653866 | 100653866 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA413924684 |
single nucleotide variant | NM_000169.3(GLA):c.667T>C (p.Cys223Arg) | GLA | Likely pathogenic | X | 100653907 | 100653907 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA413925007 |
Deletion | NM_000169.3(GLA):c.26del (p.His9fs) | GLA | Pathogenic | X | 100662866 | 100662866 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658799820 |
single nucleotide variant | NM_000169.3(GLA):c.141G>C (p.Trp47Cys) | GLA | Pathogenic | X | 100662751 | 100662751 | C | G | criteria provided, single submitter | ClinGen:CA413937045 |
single nucleotide variant | NM_000169.3(GLA):c.828C>A (p.Ser276Arg) | GLA | Likely pathogenic | X | 100653529 | 100653529 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA413923213 |
Duplication | NM_000169.3(GLA):c.786dup (p.Asn263fs) | GLA | Pathogenic | X | 100653787 | 100653788 | T | TC | criteria provided, single submitter | ClinGen:CA658799813 |
Deletion | NM_000169.3(GLA):c.640-1del | GLA | Likely pathogenic | X | 100653935 | 100653935 | GC | G | criteria provided, single submitter | ClinGen:CA658799814 |
single nucleotide variant | NM_000169.3(GLA):c.1018T>C (p.Trp340Arg) | GLA | Pathogenic/Likely pathogenic | X | 100653069 | 100653069 | A | G | criteria provided, multiple submitters, no conflicts | - |