| | | Single nucleotide variant | Parkinsonian disorder | |
| | | Single nucleotide variant (missense variant) | Parkinsonian disorder | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 35 +5 more | |
| | | Single nucleotide variant (missense variant) | Basal ganglia calcification, idiopathic, 4 +1 more | |
| | LOC106627981, GBA1 (E427K +2 more) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Depression +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | DCTN1-related condition +6 more | GConflicting classifications of pathogenicity |
| | | | Gaucher disease type I | |
| | | | Gaucher disease type I | |
| | LOC129933272, PTRHD1 (C52Y) | Single nucleotide variant (missense variant) | Parkinsonian disorder | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 65 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +9 more | |
| | | Single nucleotide variant | Parkinsonian disorder +2 more | GConflicting classifications of pathogenicity |
| | CSF1R, LOC111188154 (R216Q +1 more) | Single nucleotide variant (missense variant +1 more) | Parkinsonian disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Parkinsonian disorder +2 more | |
| | GBA1, LOC106627981 (E365K +2 more) | Single nucleotide variant (missense variant) | not specified +13 more | GBenign/Likely benign; risk factor |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia-like disorder +9 more | GConflicting classifications of pathogenicity |
| | GBA1, LOC106627981 (E365K +5 more) | Single nucleotide variant (missense variant) | Gaucher disease type I | |
| | GBA1, LOC106627981 (L483P +5 more) | Single nucleotide variant (missense variant +1 more) | Parkinson disease, late-onset +1 more | |
| | GBA1, LOC106627981 (L483P +2 more) | Single nucleotide variant (missense variant) | GBA1-related condition +15 more | |