Deletion | NM_000169.3(GLA):c.295del (p.Gln99fs) | GLA | Pathogenic/Likely pathogenic | X | 100658873 | 100658873 | TG | T | criteria provided, multiple submitters, no conflicts | - |
Indel | NM_000169.3(GLA):c.398_413delinsCTGC (p.Ile133_Gly138delinsThrAla) | GLA | Likely pathogenic | X | 100656754 | 100656769 | CCAACATCTGCATAAA | GCAG | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.402T>G (p.Tyr134Ter) | GLA | Pathogenic | X | 100656765 | 100656765 | A | C | criteria provided, single submitter | - |
Deletion | NM_000169.3(GLA):c.1062_1076del (p.Asn355_Ile359del) | GLA | Likely pathogenic | X | 100653011 | 100653025 | AATCTCCTGCCGGTTT | A | criteria provided, single submitter | - |
Duplication | NM_000169.3(GLA):c.994dup (p.Arg332fs) | GLA | Pathogenic | X | 100653362 | 100653363 | C | CT | criteria provided, single submitter | - |
single nucleotide variant | NM_000169.3(GLA):c.874G>C (p.Ala292Pro) | GLA | Likely pathogenic | X | 100653483 | 100653483 | C | G | criteria provided, single submitter | - |
Deletion | NM_000169.3(GLA):c.863del (p.Ala288fs) | GLA | Pathogenic/Likely pathogenic | X | 100653494 | 100653494 | AG | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.770C>T (p.Ala257Val) | GLA | Pathogenic/Likely pathogenic | X | 100653804 | 100653804 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.444T>G (p.Ser148Arg) | GLA | Pathogenic/Likely pathogenic | X | 100656723 | 100656723 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000169.3(GLA):c.404C>T (p.Ala135Val) | GLA | Pathogenic | X | 100656763 | 100656763 | G | A | criteria provided, multiple submitters, no conflicts | - |