| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | X-linked lymphoproliferative disease due to XIAP deficiency +1 more | |
Click to view in NCBI Gene