| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Niemann-Pick disease, type C1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene