| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Immunodeficiency 82 with systemic inflammation | |
| | | Single nucleotide variant (missense variant) | Colitis +4 more | |
| | | Single nucleotide variant (missense variant) | Arthritis +3 more | |
Click to view in NCBI Gene