Hereditary leiomyomatosis and renal cell cancer: genes and variants
Hereditary leiomyomatosis and renal cell cancer is linked to 1 analyzed protein (FH). 34 DNA variants are known to cause it; 68 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Hereditary leiomyomatosis and renal cell cancer
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.
34 disease-causing and 68 uncertain variants in FH are linked to Hereditary leiomyomatosis and renal cell cancer.
Known disease-causing variants in Hereditary leiomyomatosis and renal cell cancer
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FH R233L | 233 | Disease-causing (★★) | |
| FH T234A | 234 | Disease-causing (★★) | |
| FH R233H | 233 | Disease-causing (★★) | |
| FH T234P | 234 | Disease-causing (★★) | |
| FH T234I | 234 | Disease-causing (★★) | |
| FH Q185R | 185 | Disease-causing (★★) | |
| FH F305S | 305 | Disease-causing (★★) | |
| FH A316D | 316 | Disease-causing (★★) | |
| FH G326E | 326 | Disease-causing (★★) | |
| FH S365G | 365 | Disease-causing (★★) | |
| FH Y465C | 465 | Disease-causing (★★) | |
| FH H235D | 235 | Disease-causing (★★) | |
| FH F312L | 312 | Disease-causing (★★) | |
| FH F312V | 312 | Disease-causing (★★) | |
| FH A117P | 117 | Disease-causing (★★) | |
| FH S186N | 186 | Disease-causing (★★) | |
| FH S366N | 366 | Disease-causing (★★) | |
| FH M382V | 382 | Disease-causing (★★) | |
| FH G397R | 397 | Disease-causing (★★) | |
| FH H135R | 135 | Disease-causing (★★) | |
| FH M195T | 195 | Disease-causing (★★) | |
| FH L218P | 218 | Disease-causing (★★) | |
| FH D238H | 238 | Disease-causing (★★) | |
| FH L244R | 244 | Disease-causing (★★) | |
| FH G275R | 275 | Disease-causing (★★) | |
| FH E362K | 362 | Disease-causing (★★) | |
| FH N373S | 373 | Disease-causing (★★) | |
| FH Q386R | 386 | Disease-causing (★★) | |
| FH H402R | 402 | Disease-causing (★★) | |
| FH R101P | 101 | Disease-causing (★★) | |
| FH T330P | 330 | Disease-causing (★★) | |
| FH G97D | 97 | Disease-causing (★) | |
| FH A332P | 332 | Disease-causing (★) | |
| FH E355V | 355 | Disease-causing (★) |
Same protein, different disease
- Fumarase deficiency is also caused by FH variants; they fall partly in the same places as the Hereditary leiomyomatosis and renal cell cancer variants (11 disease-causing).
Diseases related to Hereditary leiomyomatosis and renal cell cancer
- Ovarian cancer, also linked to FH
- Fumarase deficiency, also linked to FH
- Inherited phaeochromocytoma and paraganglioma excluding NF1, also linked to FH
Frequently asked questions
Which genes are linked to Hereditary leiomyomatosis and renal cell cancer?
In CATVariant, Hereditary leiomyomatosis and renal cell cancer is linked to 1 analyzed protein: FH (Fumarate hydratase, mitochondrial).
How many genetic variants are linked to Hereditary leiomyomatosis and renal cell cancer?
126 variants: 34 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 68 are of uncertain significance or have conflicting reports.
Which uncertain variants in Hereditary leiomyomatosis and renal cell cancer look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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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