single nucleotide variant | NM_000169.3(GLA):c.548G>A (p.Gly183Asp) | GLA | Likely pathogenic | X | 100655745 | 100655745 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.730G>C (p.Asp244His) | GLA | Likely pathogenic | X | 100653844 | 100653844 | C | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.748C>A (p.Gln250Lys) | GLA | Likely pathogenic | X | 100653826 | 100653826 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.109G>C (p.Ala37Pro) | GLA | Pathogenic/Likely pathogenic | X | 100662783 | 100662783 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.620A>C (p.Tyr207Ser) | GLA | Likely pathogenic | X | 100655673 | 100655673 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.95T>C (p.Leu32Pro) | GLA | Pathogenic/Likely pathogenic | X | 100662797 | 100662797 | A | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.706T>A (p.Trp236Arg) | GLA | Pathogenic | X | 100653868 | 100653868 | A | T | criteria provided, single submitter | - |
Indel | NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu) | GLA | Pathogenic/Likely pathogenic | X | 100662721 | 100662728 | CTGGCAGT | TAGGCAGA | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000169.3(GLA):c.800del (p.Met267fs) | GLA | Pathogenic | X | 100653774 | 100653774 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.126G>C (p.Met42Ile) | GLA | Pathogenic | X | 100662766 | 100662766 | C | G | criteria provided, single submitter | - |