single nucleotide variant | NM_000169.3(GLA):c.1079G>A (p.Gly360Asp) | GLA | Likely pathogenic | X | 100653008 | 100653008 | C | T | criteria provided, single submitter | - |
Deletion | NM_000169.3(GLA):c.1077del (p.Ile359fs) | GLA | Pathogenic | X | 100653010 | 100653010 | CA | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000169.3(GLA):c.1062_1076del (p.Asn355_Ile359del) | GLA | Likely pathogenic | X | 100653011 | 100653025 | AATCTCCTGCCGGTTT | A | criteria provided, single submitter | - |
Deletion | NM_000169.3(GLA):c.1072_1074del (p.Glu358del) | GLA | Pathogenic/Likely pathogenic | X | 100653013 | 100653015 | TCTC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA021346 |
single nucleotide variant | NM_000169.3(GLA):c.1072G>A (p.Glu358Lys) | GLA | Pathogenic | X | 100653015 | 100653015 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA021353,UniProtKB:P06280#VAR_000489 |
single nucleotide variant | NM_000169.3(GLA):c.1069C>T (p.Gln357Ter) | GLA | Pathogenic | X | 100653018 | 100653018 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) | GLA | Pathogenic | X | 100653021 | 100653021 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA021340,UniProtKB:P06280#VAR_000488,OMIM:300644.0001 |
Deletion | NM_000169.3(GLA):c.1057_1058del (p.Met353fs) | GLA | Pathogenic/Likely pathogenic | X | 100653029 | 100653030 | CAT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10604810 |
Deletion | NM_000169.3(GLA):c.1055_1056del (p.Ala352fs) | GLA | Pathogenic | X | 100653031 | 100653032 | TAG | T | criteria provided, single submitter | ClinGen:CA658684321 |
Deletion | NM_000169.3(GLA):c.1037del (p.Gly346fs) | GLA | Pathogenic | X | 100653050 | 100653050 | GC | G | criteria provided, single submitter | ClinGen:CA10584627 |