| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (splice acceptor variant +1 more) | STING-associated vasculopathy with onset in infancy | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | STING-associated vasculopathy with onset in infancy | |
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