| 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 |
| | | Single nucleotide variant (missense variant) | Vasculitis due to ADA2 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Sneddon syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Vasculitis due to ADA2 deficiency | |
| | | Single nucleotide variant (missense variant) | Vasculitis due to ADA2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Sneddon syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Vasculitis due to ADA2 deficiency | |
| | | Copy number gain | Chromosome 22q11.2 microduplication syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Cat eye syndrome | |
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