| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Spondyloenchondrodysplasia with immune dysregulation | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Spondyloenchondrodysplasia with immune dysregulation +1 more | |
| | | Single nucleotide variant (missense variant) | ACP5-related disorder +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene