VLDLR Chromosome 9
Very low density lipoprotein receptor
Upload your DNA to see your personal genotypes for variants in VLDLR.
What This Gene Does
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]
Gene Info
Gene Group
Low density lipoprotein receptors
Locus Type
gene with protein product
Location
9p24.2
Ensembl
ENSG00000147852
Associated Conditions (14)
Cerebellar ataxia
intellectual disability
and dysequilibrium syndrome 1
Inborn genetic diseases
VLDLR-related disorder
Lung cancer
Intellectual disability
Melanoma
Malignant tumor of urinary bladder
Uveal melanoma
Ovarian serous cystadenocarcinoma
Dysequilibrium syndrome
Abnormality of the nervous system
Cerebellar hypoplasia
Key Variants
RS1039272492
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Health Risk
RS113809568
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS114872818
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Health Risk
RS115773578
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Health Risk
RS116306908
Conflicting classifications of pathogenicity
VLDLR-related disorder, Lung cancer, VLDLR-related disorder
Health Risk
RS137946976
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Health Risk
RS138500615
Conflicting classifications of pathogenicity
VLDLR-related disorder, VLDLR-related disorder
Health Risk
RS139671268
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Health Risk
RS141850403
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Health Risk
RS145995735
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Health Risk
RS148012674
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Health Risk
RS148487944
Conflicting classifications of pathogenicity
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
Health Risk
All Variants (87)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1039272492 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS113809568 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS114872818 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS115773578 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS116306908 | Health Risk | Conflicting classifications of pathogenicity | VLDLR-related disorder, Lung cancer, VLDLR-related disorder |
| RS137946976 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS138500615 | Health Risk | Conflicting classifications of pathogenicity | VLDLR-related disorder, VLDLR-related disorder |
| RS139671268 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS141850403 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS145995735 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS148012674 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS148487944 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS17848383 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS182216426 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS200605669 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS200878136 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS201953557 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS35334949 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS35339834 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS370176704 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS371219585 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS372577949 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS372963310 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS376819187 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS6147 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS71329437 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS746308049 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749734323 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762128149 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS762322213 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS777240049 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS777520243 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS779155452 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS781637501 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS1404412704 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS141396971 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS1415296692 | Health Risk | Likely pathogenic | — |
| RS149535475 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS1563758564 | Health Risk | Likely pathogenic | Inborn genetic diseases, Cerebellar ataxia, intellectual disability |
| RS1563764078 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS1817896308 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS2130785730 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS2130801524 | Health Risk | Likely pathogenic | Dysequilibrium syndrome, Dysequilibrium syndrome |
| RS2488718242 | Health Risk | Likely pathogenic | — |
| RS2488718618 | Health Risk | Likely pathogenic | Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 |
| RS2488721121 | Health Risk | Likely pathogenic | — |
| RS2488724796 | Health Risk | Likely pathogenic | — |
| RS2488728643 | Health Risk | Likely pathogenic | — |
| RS2488748772 | Health Risk | Likely pathogenic | — |
| RS755328835 | Health Risk | Likely pathogenic | — |