| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene