| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Niemann-Pick disease, type C +3 more | |
| | | Microsatellite (frameshift variant) | Niemann-Pick disease, type C1 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene