single nucleotide variant | NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) | GBA1 | Pathogenic | 1 | 155208006 | 155208006 | T | C | criteria provided, multiple submitters, no conflicts | UniProtKB:P04062#VAR_003274,OMIM:606463.0026,ClinGen:CA253086 |
single nucleotide variant | NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser) | GBA1 | Pathogenic | 1 | 155204848 | 155204848 | C | T | criteria provided, single submitter | ClinGen:CA253081,UniProtKB:P04062#VAR_003326,OMIM:606463.0021 |
Duplication | NM_000157.4(GBA1):c.84dup (p.Leu29fs) | GBA1 | Pathogenic | 1 | 155210451 | 155210452 | G | GC | criteria provided, multiple submitters, no conflicts | OMIM:606463.0014,ClinGen:CA221415 |
single nucleotide variant | NM_000157.4(GBA1):c.254G>A (p.Gly85Glu) | GBA1 | Pathogenic | 1 | 155209730 | 155209730 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA253063,UniProtKB:P04062#VAR_003258,OMIM:606463.0025 |
single nucleotide variant | NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) | GBA1 | Pathogenic | 1 | 155204987 | 155204987 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA221394,UniProtKB:P04062#VAR_003324,OMIM:606463.0008 |
single nucleotide variant | NM_000157.4(GBA1):c.497A>T (p.Asp166Val) | GBA1 | Likely pathogenic | 1 | 155208399 | 155208399 | T | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter) | GBA1 | Likely pathogenic | 1 | 155205610 | 155205610 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro) | GBA1 | Likely pathogenic | 1 | 155205589 | 155205589 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000157.4(GBA1):c.1279G>T (p.Glu427Ter) | GBA1 | Likely pathogenic | 1 | 155205581 | 155205581 | C | A | criteria provided, single submitter | ClinGen:CA342713575 |
single nucleotide variant | NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser) | GBA1 | Likely pathogenic | 1 | 155206208 | 155206208 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA342717600 |