| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (splice donor variant) | Niemann-Pick disease, type C1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 | |
| | | Deletion (frameshift variant) | Niemann-Pick disease, type C1 +1 more | |
| | | Microsatellite (frameshift variant) | Niemann-Pick disease, type C +1 more | |
Click to view in NCBI Gene