| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial hemophagocytic lymphohistiocytosis 5 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial hemophagocytic lymphohistiocytosis 5 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial hemophagocytic lymphohistiocytosis 5 +3 more | |
Click to view in NCBI Gene