| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Lymphoma, non-Hodgkin, familial +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hemophagocytic lymphohistiocytosis 2 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hemophagocytic lymphohistiocytosis 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +4 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (missense variant) | Aplastic anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Aplastic anemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +3 more | |
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