| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C2 +2 more | |
Click to view in NCBI Gene