single nucleotide variant | NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) | GBA1 | Likely pathogenic | 1 | 155207235 | 155207235 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA275428 |
single nucleotide variant | NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155207203 | 155207203 | T | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000157.4(GBA1):c.1029del (p.Lys342_Tyr343insTer) | GBA1 | Pathogenic | 1 | 155206231 | 155206231 | CA | C | criteria provided, single submitter | ClinGen:CA421022126 |
single nucleotide variant | NM_000157.4(GBA1):c.1049A>G (p.His350Arg) | GBA1 | Likely pathogenic | 1 | 155206211 | 155206211 | T | C | criteria provided, single submitter | ClinGen:CA253105,UniProtKB:P04062#VAR_009044,OMIM:606463.0037 |
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 |
single nucleotide variant | NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155206175 | 155206175 | G | A | criteria provided, multiple submitters, no conflicts | UniProtKB:P04062#VAR_003294,OMIM:606463.0017,ClinGen:CA253074 |
single nucleotide variant | NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg) | GBA1 | Likely pathogenic | 1 | 155206170 | 155206170 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA221381,UniProtKB:P04062#VAR_003296,OMIM:606463.0030 |
single nucleotide variant | NM_000157.4(GBA1):c.1171G>C (p.Val391Leu) | GBA1 | Pathogenic/Likely pathogenic | 1 | 155206089 | 155206089 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA221384,UniProtKB:P04062#VAR_010065 |
single nucleotide variant | NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter) | GBA1 | Pathogenic | 1 | 155206068 | 155206068 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA221386,OMIM:606463.0038 |
single nucleotide variant | NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr) | GBA1 | Likely pathogenic | 1 | 155206052 | 155206052 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA253096,UniProtKB:P04062#VAR_003300,OMIM:606463.0032 |