| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | LIPA-related condition +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Wolman disease +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene