| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Polyglandular autoimmune syndrome, type 1 | |
| | | Single nucleotide variant (missense variant) | Polyglandular autoimmune syndrome, type 1 | |
| | | Deletion (nonsense) | Polyglandular autoimmune syndrome, type 1 | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Polyglandular autoimmune syndrome, type 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Polyglandular autoimmune syndrome, type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Polyglandular autoimmune syndrome, type 1 +1 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Deletion (frameshift variant) | Polyglandular autoimmune syndrome, type 1 | |
| | AIRE, LOC130066813 (R513G) | Single nucleotide variant (missense variant) | Polyglandular autoimmune syndrome, type 1 | |
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