| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hyper-IgM syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Hyper-IgM syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene