| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hyper-IgM syndrome type 2 | |
| | | Duplication (frameshift variant) | Immunodeficiency, common variable, 2 +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene