| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Sphingomyelin/cholesterol lipidosis +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene