| | GBA1, LOC106627981 (R535H +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (R502H +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +5 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (R502C +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset +9 more | |
| | GBA1, LOC106627981 (L483R +2 more) | Single nucleotide variant (missense variant) | GBA-related disorder +6 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (L483P +2 more) | Single nucleotide variant (missense variant) | not specified +14 more | |
| | GBA1, LOC106627981 (D448H +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (V433L +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (G416S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +12 more | GPathogenic/Likely pathogenic; risk factor |
| | GBA1, LOC106627981 (R305W +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +3 more | |
| | GBA1, LOC106627981 (V391L +2 more) | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (R368C +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +7 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (R275C +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +4 more | |
| | GBA1, LOC106627981 (R229C +2 more) | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (S223N +2 more) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (P256A +2 more) | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (R296Q +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +9 more | |
| | GBA1, LOC106627981 (H294Q +2 more) | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity; other |
| | GBA1, LOC106627981 (F255Y +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (G241R +2 more) | Single nucleotide variant (missense variant) | not provided +6 more | |
| | GBA1, LOC106627981 (S235P +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (N227K +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +5 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (N227S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +8 more | |
| | LOC106627981, GBA1 (L213F +2 more) | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (R209C +2 more) | Single nucleotide variant (missense variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +5 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (R83H +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +4 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (R170C +2 more) | Single nucleotide variant (missense variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +5 more | |
| | GBA1, LOC106627981 (T75del) | Deletion (inframe_deletion +1 more) | Lewy body dementia +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Lewy body dementia +9 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Gaucher disease type I +8 more | |