| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation | |
| | | Single nucleotide variant (nonsense) | Spondyloenchondrodysplasia with immune dysregulation | |
Click to view in NCBI Gene