| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive hyper-IgE syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to DOCK8 deficiency | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to DOCK8 deficiency | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive hyper-IgE syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene