VCL Chromosome 10
Vinculin
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What This Gene Does
Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
Associated Conditions (13)
Dilated cardiomyopathy 1W
Cardiovascular phenotype
VCL-related disorder
Hypertrophic cardiomyopathy 15
Cardiomyopathy
Ventricular tachycardia
Primary dilated cardiomyopathy
Dilated cardiomyopathy with left ventricular noncompaction
Hypertrophic cardiomyopathy
Colorectal cancer
Congestive heart failure
Primary familial hypertrophic cardiomyopathy
Gastric cancer
Key Variants
RS1057523095
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
Health Risk
RS1314540118
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS138619320
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1W, Cardiovascular phenotype, VCL-related disorder
Health Risk
RS139371702
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1W, Cardiovascular phenotype, Hypertrophic cardiomyopathy 15
Health Risk
RS139559937
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
Health Risk
RS140308982
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
Health Risk
RS140381835
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
Health Risk
RS140766884
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1W
Health Risk
RS141033098
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Ventricular tachycardia
Health Risk
RS142233726
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1W, Cardiovascular phenotype, Hypertrophic cardiomyopathy 15
Health Risk
RS143321584
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1W, Cardiovascular phenotype, Hypertrophic cardiomyopathy 15
Health Risk
RS143702799
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1W, Cardiovascular phenotype, VCL-related disorder
Health Risk
All Variants (80)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS576271894 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiovascular phenotype, Cardiomyopathy |
| RS71579353 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy 15, Cardiovascular phenotype, Dilated cardiomyopathy 1W |
| RS71579355 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiovascular phenotype, Cardiomyopathy |
| RS71579374 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1W |
| RS71579379 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiomyopathy, Primary dilated cardiomyopathy |
| RS727504381 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS727504675 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W |
| RS727505339 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W |
| RS755980571 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Hypertrophic cardiomyopathy 15, Dilated cardiomyopathy 1W |
| RS758969419 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Dilated cardiomyopathy 1W, Cardiomyopathy |
| RS759202535 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1W, Cardiovascular phenotype |
| RS761534024 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W |
| RS761794669 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W |
| RS763235691 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W |
| RS767325003 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Hypertrophic cardiomyopathy 15, Cardiovascular phenotype |
| RS767694507 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiovascular phenotype, Gastric cancer |
| RS770778046 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W |
| RS772104870 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W |
| RS774076269 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W |
| RS774195260 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiomyopathy, Cardiovascular phenotype |
| RS774388320 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Cardiovascular phenotype |
| RS778137720 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W |
| RS779488376 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Primary dilated cardiomyopathy, Cardiovascular phenotype |
| RS781036800 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy 15, Dilated cardiomyopathy 1W |
| RS781079975 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Cardiovascular phenotype, Cardiomyopathy |
| RS886047218 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W |
| RS2131933515 | Health Risk | Likely pathogenic | — |
| RS727503738 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS863225121 | Health Risk | Likely pathogenic | Hypertrophic cardiomyopathy 15, Hypertrophic cardiomyopathy 15 |
| RS2136248791 | Health Risk | Pathogenic | — |