| | | Single nucleotide variant (missense variant +1 more) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | GBA1, LOC106627981 (I212N +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Gaucher disease type II +6 more | |
| | | Deletion | Parkinson disease, late-onset | |
| | | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Supranuclear palsy, progressive, 1 +4 more | |
| | GBA1, LOC106627981 (H442R +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | | Microsatellite | Parkinson disease, late-onset | |
| | GBA1, LOC106627981 (D351H +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | | 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 | |
| | | Single nucleotide variant (intron variant +1 more) | Frontotemporal dementia +5 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 (synonymous variant +1 more) | Frontotemporal dementia +4 more | |
| | GBA1, LOC106627981 (R115* +2 more) | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | GBA1, LOC106627981 (S125* +2 more) | Single nucleotide variant (nonsense) | not provided +2 more | |
| | GBA1, LOC106627981 (T69fs) | Duplication (frameshift variant +1 more) | not specified +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia +4 more | |
| | GBA1, LOC106627981 (P134T +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Parkinson disease, late-onset | |
| | LOC130008791, ATXN2 +1 more | Microsatellite | Parkinson disease, late-onset +1 more | |
| | | Complex | Parkinson disease, late-onset | |
| | GBA1, LOC106627981 (P218fs +2 more) | Deletion (frameshift variant) | Parkinson disease, late-onset +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant | Parkinson disease, late-onset | |
| | | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (5 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (5 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (5 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (3 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (3 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (3 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (missense variant) | Sphingolipid activator protein 1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | |
| | GBA1, LOC106627981 (R229C +2 more) | Single nucleotide variant (missense variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Parkinson disease, late-onset | |
| | | Single nucleotide variant (missense variant +1 more) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +8 more | |
| | LOC106627981, GBA1 (V499M +2 more) | Single nucleotide variant (missense variant) | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome +7 more | |
| | GBA1, LOC106627981 (S376T +2 more) | Single nucleotide variant (missense variant) | Gaucher disease type I +6 more | |
| | GBA1, LOC106627981 (T75del) | Deletion (inframe_deletion +1 more) | Parkinson disease, late-onset +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Parkinson disease, late-onset +7 more | GPathogenic/Likely pathogenic |
| | LOC106627981, GBA1 (L150fs +2 more) | Deletion (frameshift variant) | Gaucher disease +9 more | |
| | GBA1, LOC106627981 (W218* +2 more) | Single nucleotide variant (nonsense) | Gaucher disease type I +2 more | |
| | GBA1, LOC106627981 (W432R +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | GBA1, LOC106627981 (S310G +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +7 more | GPathogenic/Likely pathogenic |
| | | Indel (intron variant) | Gaucher disease perinatal lethal +7 more | |
| | | Microsatellite | Parkinson disease, late-onset +1 more | |
| | | Microsatellite | Spinocerebellar ataxia type 17 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Parkinson disease, late-onset +3 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Supranuclear palsy, progressive, 1 +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | | Gaucher disease type I | |
| | | | Gaucher disease type I | |
| | | Single nucleotide variant | Parkinson disease, late-onset | |
| | | Single nucleotide variant (5 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (5 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (5 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (5 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (5 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (5 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease, late-onset +2 more | |
| | | Single nucleotide variant (intron variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (synonymous variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (3 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (3 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (3 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (3 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (3 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (3 prime UTR variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant | Parkinson disease, late-onset | |
| | | Single nucleotide variant (intron variant) | Parkinson disease, late-onset +7 more | |
| | | Single nucleotide variant (synonymous variant) | Gaucher disease type I +8 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant Parkinson disease 8 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | GBA1, LOC106627981 (I407T +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |
| | GBA1, LOC106627981 (P426L +2 more) | Single nucleotide variant (missense variant) | Parkinson disease, late-onset | |