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