| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to partial RAG1 deficiency +5 more | |
| | | Deletion (frameshift variant) | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene