| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC123522803, STING1 (L133H +1 more) | Single nucleotide variant (missense variant) | STING-associated vasculopathy with onset in infancy +1 more | |
| | LOC123522803, STING1 (P115fs) | Deletion (frameshift variant +1 more) | not provided | |
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