single nucleotide variant | NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) | GBA1 | Pathogenic | 1 | 155208388 | 155208388 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA221401,UniProtKB:P04062#VAR_009035 |
single nucleotide variant | NM_000157.4(GBA1):c.509G>T (p.Arg170Leu) | GBA1 | Likely pathogenic | 1 | 155208387 | 155208387 | C | A | criteria provided, single submitter | ClinGen:CA253112,UniProtKB:P04062#VAR_009036,OMIM:606463.0042 |
Deletion | NM_000157.4(GBA1):c.533del (p.Pro178fs) | GBA1 | Likely pathogenic | 1 | 155208363 | 155208363 | AG | A | criteria provided, single submitter | OMIM:606463.0034,ClinGen:CA253100 |
single nucleotide variant | NM_000157.4(GBA1):c.580A>T (p.Lys194Ter) | GBA1 | Pathogenic | 1 | 155208316 | 155208316 | T | A | criteria provided, single submitter | ClinGen:CA10603918 |
Deletion | NM_000157.4(GBA1):c.595_596del (p.Leu199fs) | GBA1 | Pathogenic | 1 | 155208090 | 155208091 | CAG | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155208061 | 155208061 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA221403,UniProtKB:P04062#VAR_032404 |
Deletion | NM_000157.4(GBA1):c.630del (p.Val211fs) | GBA1 | Pathogenic | 1 | 155208056 | 155208056 | CG | C | criteria provided, single submitter | ClinGen:CA658683166 |
single nucleotide variant | NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) | GBA1 | Pathogenic | 1 | 155208033 | 155208033 | C | T | criteria provided, multiple submitters, no conflicts | - |
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.681T>G (p.Asn227Lys) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155208005 | 155208005 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA221409,UniProtKB:P04062#VAR_003275 |