GENE REFERENCE / HGNC:12698

VLDLR

very low density lipoprotein receptor

protein-coding gene9p24.2Gene information

What does this gene do?

The VLDLR gene provides instructions for making a protein called a very low-density lipoprotein (VLDL) receptor. This protein is active in many different organs and tissues, but it appears to play a particularly important role in the developing brain.

The VLDL receptor works together with a protein called reelin. Reelin fits into the VLDL receptor like a key in a lock, which triggers a series of chemical reactions within the cell. This series of reactions is known as a signaling pathway. During early brain development, the reelin signaling pathway helps guide immature nerve cells (neuroblasts) to their appropriate locations.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-03-02. Source review: 2026-03.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1MONDO:0024542 · Evaluated 2023-06-13	Autosomal recessive	DefinitiveBrain Malformations Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 1,080
Submissions for variants in or overlapping this gene: 1,516
Submissions explicitly reporting this gene: 1,298
Alleles reported pathogenic / likely pathogenic: 70
VariationIDs with uncertain significance: 250
VariationIDs with conflicting classifications: 38

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about VLDLR?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 70 alleles in VLDLR reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in VLDLR.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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