| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Agammaglobulinemia 7, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +3 more | |
| | | Single nucleotide variant (splice donor variant) | Inherited Immunodeficiency Diseases +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene