| 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 (missense variant +1 more) | Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity | |
| | | Copy number loss | not provided | |
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