| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | NPC1-related condition +5 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +2 more | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene