| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Wolman disease | |
| | | Duplication (inframe_insertion) | Wolman disease +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene