| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to partial RAG1 deficiency +5 more | |
| | | Deletion (frameshift variant) | Histiocytic medullary reticulosis +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene