| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GBA1, LOC106627981 (L483P +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +15 more | |
| | GBA1, LOC106627981 (E427K +2 more) | Single nucleotide variant (missense variant) | not specified +4 more | |
| | GBA1, LOC106627981 (E365K +2 more) | Single nucleotide variant (missense variant) | Gaucher disease perinatal lethal +13 more | GBenign/Likely benign; risk factor |
| | | Deletion (frameshift variant) | Parkinsonian disorder +2 more | |
| | 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) | Parkinsonian disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Parkinsonian disorder +9 more | |
| | | Single nucleotide variant (missense variant) | Spinocerebellar ataxia type 35 +5 more | |
| | | Single nucleotide variant | Parkinsonian disorder +2 more | GConflicting classifications of pathogenicity |
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