| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | |
| | | Microsatellite (nonsense) | Niemann-Pick disease, type C2 | |
| | | Single nucleotide variant (splice donor variant) | Niemann-Pick disease, type C2 | |
Click to view in NCBI Gene