| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Immunodeficiency 51 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 51 | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 51 +2 more | |
Click to view in NCBI Gene