| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | AIRE, LOC130066813 (D503N) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | AIRE, LOC130066813 (H507Q) | Single nucleotide variant (missense variant) | AIRE-related condition | |
Click to view in NCBI Gene