| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hyper-IgE recurrent infection syndrome 1, autosomal dominant +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | STAT3-related disorder +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene