| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | |
| | | Single nucleotide variant (intron variant +1 more) | not provided +1 more | |
| | | Copy number loss | not provided | |
Click to view in NCBI Gene