| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (nonsense) | Polyglandular autoimmune syndrome, type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | AIRE-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Polyglandular autoimmune syndrome, type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene