| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Immunodeficiency 36 | |
| | | Deletion (frameshift variant) | SHORT syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Immunodeficiency 36 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Inherited Immunodeficiency Diseases +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene