| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation +2 more | |
| | | Single nucleotide variant (missense variant) | Spondyloenchondrodysplasia with immune dysregulation +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
Click to view in NCBI Gene