| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hemophagocytic lymphohistiocytosis 2 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Familial hemophagocytic lymphohistiocytosis +5 more | |
Click to view in NCBI Gene