| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (nonsense) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Inherited Immunodeficiency Diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +2 more | GPathogenic/Likely pathogenic |
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