| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +3 more | |
| | | Single nucleotide variant (intron variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
Click to view in NCBI Gene