| | | Single nucleotide variant (3 prime UTR variant) | Gaucher disease type II +6 more | |
| | GBA1, LOC106627981 (L335fs +2 more) | Deletion (frameshift variant) | Gaucher disease perinatal lethal | |
| | | Single nucleotide variant (missense variant +1 more) | Gaucher disease type II +7 more | |
| | GBA1, LOC106627981 (A261G +2 more) | Single nucleotide variant (missense variant) | not provided +7 more | |
| | GBA1, LOC106627981 (W330G +2 more) | Single nucleotide variant (missense variant) | not provided +7 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (M313I +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +7 more | |
| | LOC106627981, GBA1 (T362M +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Gaucher disease perinatal lethal +1 more | |
| | GBA1, LOC106627981 (T69fs) | Duplication (frameshift variant +1 more) | not specified +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (P134T +2 more) | Single nucleotide variant (missense variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (P430L +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (intron variant) | Gaucher disease perinatal lethal | |
| | | Single nucleotide variant (missense variant +1 more) | Gaucher disease perinatal lethal | |
| | GBA1, LOC106627981 (P218fs +2 more) | Deletion (frameshift variant) | Parkinson disease, late-onset +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Gaucher disease type III +8 more | |
| | GBA1, LOC106627981 (V499M +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type III +7 more | |
| | GBA1, LOC106627981 (S376T +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +6 more | |
| | GBA1, LOC106627981 (S352N +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +4 more | |
| | GBA1, LOC106627981 (T75del) | Deletion (inframe_deletion +1 more) | Gaucher disease type II +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +7 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (L150fs +2 more) | Deletion (frameshift variant) | Gaucher disease +9 more | |
| | GBA1, LOC106627981 (S310G +2 more) | Single nucleotide variant (missense variant) | Lewy body dementia +7 more | GConflicting classifications of pathogenicity |
| | | Indel (intron variant) | Gaucher disease perinatal lethal +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Gaucher disease +8 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (W351S +2 more) | Single nucleotide variant (missense variant) | Lewy body dementia +7 more | |
| | | | Gaucher disease type I | |
| | | | Gaucher disease type I | |
| | | Single nucleotide variant (intron variant) | Gaucher disease type I +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | Gaucher disease type I +3 more | |
| | LOC106627981, GBA1 (D179H +2 more) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | GBA1, LOC106627981 (H294Q +2 more) | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity; other |
| | GBA1, LOC106627981 (E365K +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +13 more | GConflicting classifications of pathogenicity; risk factor |
| | GBA1, LOC106627981 (I299T +2 more) | Single nucleotide variant (missense variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +8 more | |
| | | Single nucleotide variant (intron variant) | Lewy body dementia +8 more | |
| | GBA1, LOC106627981 (L335fs +2 more) | Deletion (frameshift variant) | Gaucher disease +8 more | |
| | GBA1, LOC106627981 (T408M +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Gaucher disease type I +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (S235P +2 more) | Single nucleotide variant (missense variant) | Gaucher disease +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (D395N +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset +8 more | GConflicting classifications of pathogenicity |
| | LOC106627981, GBA1 (D448H +5 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Gaucher disease perinatal lethal | |
| | GBA1, LOC106627981 (F290L +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal | |
| | GBA1, LOC106627981 (R170L +2 more) | Single nucleotide variant (missense variant) | Gaucher disease | |
| | GBA1, LOC106627981 (R296Q +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +9 more | |
| | GBA1, LOC106627981 (G416S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (R398* +2 more) | Single nucleotide variant (nonsense) | Parkinson disease, late-onset +8 more | |
| | GBA1, LOC106627981 (H350R +2 more) | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (P178fs +2 more) | Deletion (frameshift variant) | Gaucher disease type I | |
| | | Single nucleotide variant (missense variant +1 more) | Parkinson disease, late-onset +9 more | |
| | GBA1, LOC106627981 (G364R +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +8 more | |
| | GBA1, LOC106627981 (N227S +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +8 more | |
| | GBA1, LOC106627981 (R535H +2 more) | Single nucleotide variant (missense variant) | not provided +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (T362I +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (V437F +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal | |
| | | Duplication (frameshift variant +1 more) | Gaucher disease type II +8 more | |
| | GBA1, LOC106627981 (F252I +2 more) | Single nucleotide variant (missense variant) | not specified +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (E365K +5 more) | Single nucleotide variant (missense variant) | Gaucher disease type I | |
| | GBA1, LOC106627981 (F255Y +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +8 more | GPathogenic/Likely pathogenic |
| | LOC106627981, GBA1 (L483P +5 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | GBA1, LOC106627981 (R502C +2 more) | Single nucleotide variant (missense variant) | not provided +9 more | |
| | LOC106627981, GBA1 (D448H +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +9 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (V433L +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type II +8 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (R159Q +2 more) | Single nucleotide variant (missense variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +5 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (N409S +2 more) | Single nucleotide variant (missense variant) | Lewy body dementia +13 more | GPathogenic/Likely pathogenic; risk factor |
| | LOC106627981, GBA1 (L483P +2 more) | Single nucleotide variant (missense variant) | Lewy body dementia +15 more | |