Ollier disease: genes and variants
Explore variant evidence for Ollier disease across 2 analyzed proteins (IDH1, HIF1A). Linked ClinVar records include 6 pathogenic or likely pathogenic variants, 2 variants of uncertain significance and 3 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 Ollier disease
IDH1: Isocitrate dehydrogenase [NADP] cytoplasmic
It normally generates alpha-ketoglutarate and NADPH in the cytosol and peroxisomes. Recurrent cancer-associated variants at R132 acquire the ability to produce D-2-hydroxyglutarate, an oncometabolite that rewires epigenetic regulation in glioma, leukemia, and other tumors.
3 ClinVar pathogenic / likely pathogenic and 2 uncertain variants in IDH1 have source records linked to Ollier disease. Association strength is not clinical gene validity.
HIF1A: Hypoxia-inducible factor 1-alpha
When oxygen falls, its stabilization activates transcriptional programs that increase glycolysis, angiogenesis, erythropoietic support, and other adaptations to hypoxia. Persistent HIF-1 signaling can help tumors survive oxygen-poor environments and contributes to ischemic and inflammatory disease biology.
3 ClinVar pathogenic / likely pathogenic and 1 uncertain variants in HIF1A have source records linked to Ollier disease. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): IDH2.
ClinVar pathogenic and likely pathogenic variants linked to Ollier disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| IDH1 R132H | 132 | Pathogenic / likely pathogenic (★★) | |
| IDH1 R132C | 132 | Pathogenic / likely pathogenic (★★) | |
| HIF1A P215L | 215 | Interaction with TSGA10 | Pathogenic / likely pathogenic (★) |
| IDH1 I189V | 189 | Pathogenic / likely pathogenic (★) | |
| HIF1A S692C | 692 | ID | Pathogenic / likely pathogenic (★) |
| HIF1A R631H | 631 | ID | Pathogenic / likely pathogenic (★) |
Diseases related to Ollier disease
- Maffucci syndrome, also linked to HIF1A and IDH1
- Acute myeloid leukemia, also linked to IDH1
- Paroxysmal extreme pain disorder, also linked to IDH1
Frequently asked questions
Which genes have records linked to Ollier disease?
This view contains 2 analyzed proteins: IDH1, HIF1A. 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 6 pathogenic or likely pathogenic variants, 2 variants of uncertain significance and 3 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. 0 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 11 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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