single nucleotide variant | NM_000169.3(GLA):c.290C>T (p.Ala97Val) | GLA | Pathogenic | X | 100658878 | 100658878 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.254G>A (p.Gly85Asp) | GLA | Pathogenic/Likely pathogenic | X | 100658914 | 100658914 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000169.3(GLA):c.613_621del (p.Pro205_Tyr207del) | GLA | Likely pathogenic | X | 100655672 | 100655680 | TATAAAGAGG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.893A>G (p.Asn298Ser) | GLA | Likely pathogenic | X | 100653464 | 100653464 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.132G>A (p.Trp44Ter) | GLA | Pathogenic | X | 100662760 | 100662760 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.188G>A (p.Cys63Tyr) | GLA | Pathogenic | X | 100662704 | 100662704 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000169.3(GLA):c.777del (p.Gly261fs) | GLA | Pathogenic | X | 100653797 | 100653797 | CT | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.896A>G (p.Asp299Gly) | GLA | Likely pathogenic | X | 100653461 | 100653461 | T | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.640-1G>A | GLA | Pathogenic | X | 100653935 | 100653935 | C | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000169.3(GLA):c.1077del (p.Ile359fs) | GLA | Pathogenic | X | 100653010 | 100653010 | CA | C | criteria provided, multiple submitters, no conflicts | - |