| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Immunodeficiency 35 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 35 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 35 | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Insertion | Immunodeficiency 35 | |
Click to view in NCBI Gene