Deletion | NC_000023.11:g.(?_101403791)_(101404005_?)del | GLA | Pathogenic | X | 100658779 | 100658993 | na | na | criteria provided, single submitter | - |
Indel | NM_000169.3(GLA):c.496_497delinsGG (p.Leu166Gly) | GLA | Pathogenic | X | 100656670 | 100656671 | AG | CC | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.520T>C (p.Cys174Arg) | GLA | Pathogenic | X | 100656647 | 100656647 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.695T>C (p.Ile232Thr) | GLA | Pathogenic/Likely pathogenic | X | 100653879 | 100653879 | A | G | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_000169.3(GLA):c.85dup (p.Ala29fs) | GLA | Pathogenic | X | 100662806 | 100662807 | G | GC | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.119C>T (p.Pro40Leu) | GLA | Pathogenic/Likely pathogenic | X | 100662773 | 100662773 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.266T>G (p.Leu89Arg) | GLA | Likely pathogenic | X | 100658902 | 100658902 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.307G>T (p.Glu103Ter) | GLA | Pathogenic | X | 100658861 | 100658861 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.404C>T (p.Ala135Val) | GLA | Pathogenic | X | 100656763 | 100656763 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.444T>G (p.Ser148Arg) | GLA | Pathogenic/Likely pathogenic | X | 100656723 | 100656723 | A | C | criteria provided, multiple submitters, no conflicts | - |