| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cataplexy +9 more | |
| | | Single nucleotide variant (missense variant) | NPC1-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C1 +1 more | |
Click to view in NCBI Gene