Gene
VHL
von Hippel-Lindau tumor suppressor
- HGNC 12687(opens in a new tab)
- Ensembl gene ENSG00000134086(opens in a new tab)
- NCBI Gene 7428(opens in a new tab)
Summary
- Cytogenetic location
- 3p25.3
- Coordinates
- Chromosome 3: 10,141,778–10,153,667 (GRCh38)
- Exons
- 3 exons across 11.9 kb
- Protein
- 213 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- VHL1
- MANE Select transcript
- ENST00000256474.3NM_000551.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Hereditary Pheochromocytoma and Paraganglioma
- Hereditary pheochromocytomaAutosomal dominant
Inherited susceptibility to catecholamine-producing tumours of the adrenal medulla.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Biochemical screening and imaging allow tumours to be found and removed early.
Kidney Cancer
Primary or metastatic malignant neoplasm involving the kidney.
- 1 GenCC submitter rates it definitive or strong
Polycythemia
- Chuvash PolycythemiaAutosomal recessive
Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.
- 2 GenCC submitters rate it definitive or strong
Urinary and Renal System Tumour
- Urinary System Neoplasm
A benign or malignant, primary or metastatic neoplasm involving the urinary system.
- 1 GenCC submitter rates it definitive or strong
Von Hippel-Lindau Disease
- Autosomal dominant
A VHL-related tumour predisposition syndrome with haemangioblastomas, renal cell carcinoma, phaeochromocytoma and pancreatic neuroendocrine tumours.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Lifelong multiorgan surveillance, kidney-sparing surgery, belzutifan (HIF-2α inhibitor), cascade testing, prenatal counseling
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How VHL is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.4 kb of the gene's 11.9 kb; 642 of those bases code for the protein.
How a genome test reads VHL
251
positions in VHL where ClinVar classes a change as pathogenic or likely pathogenic
3 of them (1.2%) fall in regions short reads find hard.
- Low mappability (3 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 11.9 kb of VHL, introns included, not only the 4.4 kb of exons.
Variants with a page (129)
The VHL variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.341-2A>G | Intron 1 | 10,146,512 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.463+1G>A | Intron 2 | 10,146,637 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| E70X | c.208G>T | Exon 1 | 10,142,055 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E160Sfs*10 | c.477del | Exon 3 | 10,149,797 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F136Lfs*23 | c.408del | Exon 2 | 10,146,578 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K196X | c.586A>T | Exon 3 | 10,149,909 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N78S | c.233A>G | Exon 1 | 10,142,080 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| N141Kfs*3 | c.422dup | Exon 2 | 10,146,593 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| P86L | c.257C>T | Exon 1 | 10,142,104 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q195X | c.583C>T | Exon 3 | 10,149,906 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
Traits linked to VHL
The Human Phenotype Ontology lists these as features of the rare conditions VHL can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Increased blood pressure in blood vessels of lungs
- Decrease in blood pressure upon standing up
- Fainting spell
- High blood pressure
- Hypertension associated with pheochromocytoma
- Hypertensive retinopathy
- Palpitations
- Positive regitine blocking test
Show 18 more traits
- Sinus tachycardia
- Abnormal heart rate
- Abnormal left ventricular function
- Arachnoid hemangiomatosis
- Cardiac failure
- Disease of the heart muscle
- Hypertensive crisis
- Inflammation of heart muscle
- Stroke
- Heart attack
- Elevated heart rate
- Hepatic hemangioma
- Intermittent high blood pressure
- Low blood pressure
- Narrowing of kidney artery
- Pulmonary capillary hemangiomatosis
- Strawberry mark
- Varicose veins
Abnormality of the nervous system
- Headache
- Cerebellar hemangioblastoma
- Episodic paroxysmal anxiety
- Recurrent paroxysmal headache
- Anxiety
- Cranial nerve compression
- Inability to move vocal cords
- Panic attack
Show 3 more traits
Laboratory abnormality
- Elevated urinary catecholamines
- Elevated urinary dopamine
- Elevated urinary epinephrine level
- Elevated urinary norepinephrine level
- High blood calcium levels
- High urine protein levels
- Blood in urine
- Elevated calcitonin
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). VHL gene: von Hippel-Lindau tumor suppressor. Retrieved 17 October 2026, from https://dantelabs.com/genes/vhl
Dante Labs. VHL gene: von Hippel-Lindau tumor suppressor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/vhl
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