| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Lysosomal acid lipase deficiency | |
| | | Single nucleotide variant (missense variant) | Lysosomal acid lipase deficiency | |
| | | Single nucleotide variant (missense variant) | Wolman disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene