Fumaric aciduria: genes and variants
Explore variant evidence for Fumaric aciduria across 1 analyzed protein (FH). Linked ClinVar records include 11 pathogenic or likely pathogenic variants, 69 variants of uncertain significance and 42 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 Fumaric aciduria
FH: Fumarate hydratase, mitochondrial
It converts fumarate to malate in the mitochondrial TCA cycle. Biallelic loss causes fumarase deficiency, while heterozygous loss-of-function variants cause hereditary leiomyomatosis and renal cell cancer syndrome through fumarate accumulation and tumor-suppressor loss.
11 ClinVar pathogenic / likely pathogenic and 111 uncertain variants in FH have source records linked to Fumaric aciduria. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Fumaric aciduria
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FH K230R | 230 | Pathogenic / likely pathogenic (★★) | |
| FH H318L | 318 | Pathogenic / likely pathogenic (★★) | |
| FH T234A | 234 | Pathogenic / likely pathogenic (★★) | |
| FH G397R | 397 | Pathogenic / likely pathogenic (★★) | |
| FH T72P | 72 | Pathogenic / likely pathogenic (★★) | |
| FH N188I | 188 | Pathogenic / likely pathogenic (★★) | |
| FH M195V | 195 | Pathogenic / likely pathogenic (★★) | |
| FH L218P | 218 | Pathogenic / likely pathogenic (★★) | |
| FH G346D | 346 | Pathogenic / likely pathogenic (★★) | |
| FH L453P | 453 | Pathogenic / likely pathogenic (★★) | |
| FH S222P | 222 | Pathogenic / likely pathogenic (★) |
Same protein, different disease
- Hereditary leiomyomatosis and renal cell cancer also has ClinVar records linked to FH variants; they fall mostly in different places as the Fumaric aciduria variants (34 pathogenic / likely pathogenic).
Diseases related to Fumaric aciduria
- Ovarian cancer, also linked to FH
- Hereditary leiomyomatosis and renal cell cancer, also linked to FH
- Inherited phaeochromocytoma and paraganglioma excluding NF1, also linked to FH
Frequently asked questions
Which genes have records linked to Fumaric aciduria?
This view contains 1 analyzed proteins: FH. 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 11 pathogenic or likely pathogenic variants, 69 variants of uncertain significance and 42 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 133 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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