| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +2 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +5 more | GConflicting classifications of pathogenicity |
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