Duplication | NM_000169.3(GLA):c.59_72dup (p.Asp25fs) | GLA | Pathogenic/Likely pathogenic | X | 100662819 | 100662820 | C | CCCAGGAAACGAGGG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658684326 |
Deletion | NM_000169.3(GLA):c.80del (p.Pro27fs) | GLA | Pathogenic | X | 100662812 | 100662812 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA022094 |
Deletion | NM_000169.3(GLA):c.59_84del (p.Ala20fs) | GLA | Pathogenic | X | 100662808 | 100662833 | CCCCAGGGATGTCCCAGGAAACGAGGG | C | criteria provided, single submitter | ClinGen:CA658799819 |
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.92C>T (p.Ala31Val) | GLA | Likely pathogenic | X | 100662800 | 100662800 | G | A | criteria provided, single submitter | - |
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.101A>G (p.Asn34Ser) | GLA | Pathogenic | X | 100662791 | 100662791 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA021300,UniProtKB:P06280#VAR_000432,OMIM:300644.0012 |
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.109G>A (p.Ala37Thr) | GLA | Likely pathogenic | X | 100662783 | 100662783 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.118C>T (p.Pro40Ser) | GLA | Pathogenic | X | 100662774 | 100662774 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA021436,UniProtKB:P06280#VAR_000434,OMIM:300644.0009 |