| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Sneddon syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Vasculitis due to ADA2 deficiency +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Sneddon syndrome | |
| | | Single nucleotide variant (missense variant) | Vasculitis due to ADA2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Sneddon syndrome +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene