| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hemophagocytic lymphohistiocytosis 3 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Familial hemophagocytic lymphohistiocytosis 3 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Familial hemophagocytic lymphohistiocytosis 3 +1 more | |
Click to view in NCBI Gene