| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +1 more | |
| | | Single nucleotide variant (synonymous variant) | Recombinase activating gene 2 deficiency | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 2 deficiency | |
| | | Single nucleotide variant (missense variant) | Histiocytic medullary reticulosis +3 more | |
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