| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +2 more) | Hyper-IgE recurrent infection syndrome 4A, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | Hyper-IgE recurrent infection syndrome 4, autosomal recessive +1 more | |
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