| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | AIRE, LOC130066813 (D502V) | Single nucleotide variant (missense variant) | Polyglandular autoimmune syndrome, type 1 | |
| | AIRE, LOC130066813 (D503N) | Single nucleotide variant (missense variant) | Polyglandular autoimmune syndrome, type 1 +1 more | |
| | AIRE, LOC130066813 (S506G) | Single nucleotide variant (missense variant) | Polyglandular autoimmune syndrome, type 1 | |
| | AIRE, LOC130066813 (S521R) | Single nucleotide variant (missense variant) | Polyglandular autoimmune syndrome, type 1 | |
| | | Single nucleotide variant (synonymous variant) | Polyglandular autoimmune syndrome, type 1 | |
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