Deletion | NM_000169.3(GLA):c.1188del (p.Tyr397fs) | GLA | Pathogenic | X | 100652899 | 100652899 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584625 |
Deletion | NM_000169.3(GLA):c.1166del (p.Pro389fs) | GLA | Pathogenic | X | 100652921 | 100652921 | AG | A | criteria provided, single submitter | ClinGen:CA10605369 |
single nucleotide variant | NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) | GLA | Pathogenic/Likely pathogenic | X | 100652930 | 100652930 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA021426 |
single nucleotide variant | NM_000169.3(GLA):c.1156C>T (p.Gln386Ter) | GLA | Likely pathogenic | X | 100652931 | 100652931 | G | A | criteria provided, single submitter | - |
Deletion | NM_000169.3(GLA):c.1125_1140del (p.Val376fs) | GLA | Pathogenic | X | 100652947 | 100652962 | CAGGATTACAGGCCACT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581189 |
single nucleotide variant | NM_000169.3(GLA):c.1118G>A (p.Gly373Asp) | GLA | Pathogenic | X | 100652969 | 100652969 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352566,UniProtKB:P06280#VAR_012436 |
single nucleotide variant | NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) | GLA | Pathogenic/Likely pathogenic | X | 100652970 | 100652970 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA021403,UniProtKB:P06280#VAR_012437 |
single nucleotide variant | NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter) | GLA | Pathogenic | X | 100652992 | 100652992 | A | T | criteria provided, single submitter | ClinGen:CA021385,OMIM:300644.0055 |
single nucleotide variant | NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) | GLA | Pathogenic/Likely pathogenic | X | 100653000 | 100653000 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA021376 |
single nucleotide variant | NM_000169.3(GLA):c.1081G>A (p.Gly361Arg) | GLA | Pathogenic | X | 100653006 | 100653006 | C | T | criteria provided, single submitter | ClinGen:CA10584626,UniProtKB:P06280#VAR_000491 |