single nucleotide variant | NM_000169.3(GLA):c.1024C>T (p.Arg342Ter) | GLA | Pathogenic | X | 100653063 | 100653063 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA021320,OMIM:300644.0031 |
single nucleotide variant | NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) | GLA | Pathogenic | X | 100653062 | 100653062 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA021326,UniProtKB:P06280#VAR_000487,OMIM:300644.0030 |
single nucleotide variant | NM_000169.3(GLA):c.1020G>A (p.Trp340Ter) | GLA | Pathogenic | X | 100653067 | 100653067 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA021307,OMIM:300644.0029 |
single nucleotide variant | NM_000169.3(GLA):c.983G>C (p.Gly328Ala) | GLA | Pathogenic | X | 100653374 | 100653374 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA022267,UniProtKB:P06280#VAR_000486,OMIM:300644.0028 |
single nucleotide variant | NM_000169.3(GLA):c.890C>T (p.Ser297Phe) | GLA | Pathogenic | X | 100653467 | 100653467 | G | A | criteria provided, single submitter | ClinGen:CA022153,UniProtKB:P06280#VAR_000479,OMIM:300644.0025 |
single nucleotide variant | NM_000169.3(GLA):c.797A>T (p.Asp266Val) | GLA | Pathogenic | X | 100653777 | 100653777 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA022064,UniProtKB:P06280#VAR_000472,OMIM:300644.0022 |
single nucleotide variant | NM_000169.3(GLA):c.791A>T (p.Asp264Val) | GLA | Pathogenic/Likely pathogenic | X | 100653783 | 100653783 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA022056,UniProtKB:P06280#VAR_000471,OMIM:300644.0021 |
single nucleotide variant | NM_000169.3(GLA):c.679C>T (p.Arg227Ter) | GLA | Pathogenic | X | 100653895 | 100653895 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA021963,OMIM:300644.0020 |
single nucleotide variant | NM_000169.3(GLA):c.680G>A (p.Arg227Gln) | GLA | Pathogenic | X | 100653894 | 100653894 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA021972,UniProtKB:P06280#VAR_000467,OMIM:300644.0019 |
single nucleotide variant | NM_000169.3(GLA):c.644A>G (p.Asn215Ser) | GLA | Pathogenic | X | 100653930 | 100653930 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA021924,UniProtKB:P06280#VAR_000464,OMIM:300644.0018 |