| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | CDH23-related condition +8 more | GConflicting classifications of pathogenicity |
| | CDH23, PSAP (I3210T +2 more) | Single nucleotide variant (missense variant) | Atypical Gaucher Disease +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Atypical Gaucher Disease +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene