| | GBA1, LOC106627981 (D426N +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | GBA1, LOC106627981 (L483P +2 more) | Single nucleotide variant (missense variant) | Movement disorder +15 more | |
| | GBA1, LOC106627981 (D395N +2 more) | Single nucleotide variant (missense variant) | Lewy body dementia +8 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (D448H +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +13 more | GPathogenic/Likely pathogenic; risk factor |
| | GBA1, LOC106627981 (T408M +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +3 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (R311Q +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +1 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (E365K +2 more) | Single nucleotide variant (missense variant) | not specified +13 more | GBenign/Likely benign; risk factor |
| | GBA1, LOC106627981 (D215V +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC106627981, GBA1 (R296* +2 more) | Single nucleotide variant (nonsense) | Gaucher disease | |
| | GBA1, LOC106627981 (H294Q +2 more) | Single nucleotide variant (missense variant) | not specified +7 more | GConflicting classifications of pathogenicity; other |
| | GBA1, LOC106627981 (E185D +2 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (F255Y +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (G241R +2 more) | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (G234E +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | GBA1, LOC106627981 (A142T +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | GBA1, LOC106627981 (N227R +2 more) | Indel (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (R209C +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +5 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (P111L +2 more) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (R159W +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +1 more | |
| | GBA1, LOC106627981 (L105P +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Gaucher disease perinatal lethal +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GBA1, LOC106627981 (T75del) | Deletion (inframe_deletion +1 more) | Parkinson disease, late-onset +8 more | GPathogenic/Likely pathogenic |