| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Combined immunodeficiency with skin granulomas +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 2 deficiency | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency with skin granulomas +3 more | |
| | | Single nucleotide variant (missense variant) | Recombinase activating gene 2 deficiency | |
| | | Single nucleotide variant (missense variant) | RAG2-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Combined immunodeficiency with skin granulomas +2 more | |
| | | Single nucleotide variant (missense variant) | RAG2-related disorder +5 more | GPathogenic/Likely pathogenic |
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