| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant +1 more) | Familial cold autoinflammatory syndrome 3 | |
| | | Deletion (splice acceptor variant +1 more) | Familial cold autoinflammatory syndrome 3 | |
| | | Deletion (splice acceptor variant +1 more) | Familial cold autoinflammatory syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
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