Autoimmune polyendocrinopathy: genes and variants
Explore variant evidence for Autoimmune polyendocrinopathy across 1 analyzed protein (AIRE). Linked ClinVar records include 37 pathogenic or likely pathogenic variants, 288 variants of uncertain significance and 26 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Autoimmune polyendocrinopathy
AIRE: Autoimmune regulator
It promotes immune tolerance by driving expression of tissue-restricted antigens in thymic medullary epithelial cells, helping eliminate self-reactive T cells. Biallelic loss-of-function variants cause autoimmune polyendocrine syndrome type 1.
37 ClinVar pathogenic / likely pathogenic and 314 uncertain variants in AIRE have source records linked to Autoimmune polyendocrinopathy. Association strength is not clinical gene validity.
Where Autoimmune polyendocrinopathy variants cluster
- AIRE HSR (positions 1–105): 32 of 37 ClinVar pathogenic / likely pathogenic variants, 4.5× more than its size predicts.
ClinVar pathogenic and likely pathogenic variants linked to Autoimmune polyendocrinopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| AIRE R15L | 15 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE R15H | 15 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE T16M | 16 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE T16R | 16 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE M1L | 1 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE M1V | 1 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE A58G | 58 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE K83E | 83 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE Y85C | 85 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE R92W | 92 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE W78R | 78 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE L87P | 87 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE L93R | 93 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE A21V | 21 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE L28P | 28 | HSR | Pathogenic / likely pathogenic (★★) |
| AIRE P539L | 539 | Pathogenic / likely pathogenic (★★) | |
| AIRE G155S | 155 | Pathogenic / likely pathogenic (★★) | |
| AIRE P326L | 326 | PHD-type 1 | Pathogenic / likely pathogenic (★★) |
| AIRE R15C | 15 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE R15G | 15 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE T16A | 16 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE Y90C | 90 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE Y90H | 90 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE M1K | 1 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE M1R | 1 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE M1T | 1 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE A58D | 58 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE L81P | 81 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE R92Q | 92 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE I18M | 18 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE L29P | 29 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE R8H | 8 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE Q44P | 44 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE L97P | 97 | HSR | Pathogenic / likely pathogenic (★) |
| AIRE V80G | 80 | HSR | Pathogenic / likely pathogenic |
| AIRE C311Y | 311 | PHD-type 1 | Pathogenic / likely pathogenic |
| AIRE C302Y | 302 | PHD-type 1 | Pathogenic / likely pathogenic |
Uncertain variants prioritized for review in Autoimmune polyendocrinopathy
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| AIRE L93Q | 93 | HSR | Conflicting reports (★) | +7: 5 other pathogenic changes within 3 positions; L93R at the same position is pathogenic; seen in 6.9e-07 of gnomAD DNA copies; REVEL 0.864 |
Which prediction tools work for Autoimmune polyendocrinopathy
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- REVEL: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 100 out of 100
- CATVariant: 98 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- phyloP: 93 out of 100
- SIFT: 93 out of 100
- PolyPhen-2: 93 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Diseases related to Autoimmune polyendocrinopathy
- Inherited Immunodeficiency Diseases, also linked to AIRE
Frequently asked questions
Which genes have records linked to Autoimmune polyendocrinopathy?
This view contains 1 analyzed proteins: AIRE. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 37 pathogenic or likely pathogenic variants, 288 variants of uncertain significance and 26 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 1 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 401 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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