VCL Chromosome 10

Vinculin
80 variants 80 Health Risk

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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
RS1057523095 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS1314540118 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS138619320 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, VCL-related disorder
RS139371702 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Hypertrophic cardiomyopathy 15
RS139559937 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS140308982 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS140381835 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS140766884 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS141033098 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype, Ventricular tachycardia
RS142233726 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Hypertrophic cardiomyopathy 15
RS143321584 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Hypertrophic cardiomyopathy 15
RS143702799 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, VCL-related disorder
RS144146254 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiomyopathy, Cardiovascular phenotype
RS147957747 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS148966602 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiomyopathy, Cardiovascular phenotype
RS150385900 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1W, Cardiomyopathy
RS1554814892 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1591641692 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS183739128 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS1839959715 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W
RS189242810 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Dilated cardiomyopathy 1W
RS189781480 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1W, VCL-related disorder
RS200342284 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiomyopathy, Primary dilated cardiomyopathy
RS200624351 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS200733607 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Cardiomyopathy
RS201020802 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Cardiomyopathy
RS201207594 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W
RS201528612 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Hypertrophic cardiomyopathy 15, Cardiovascular phenotype
RS202005455 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, VCL-related disorder, Dilated cardiomyopathy 1W
RS367568441 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS367598954 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W
RS368570586 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS370709860 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiomyopathy, Dilated cardiomyopathy 1W
RS371187988 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS372381809 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS372691803 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS373744314 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Dilated cardiomyopathy 1W
RS375254227 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS397517237 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy with left ventricular noncompaction
RS397517244 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS397517245 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS397517246 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS41280414 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Hypertrophic cardiomyopathy 15, Dilated cardiomyopathy 1W
RS532645343 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Dilated cardiomyopathy 1W
RS538002543 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, VCL-related disorder
RS548487697 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS550741064 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS565398652 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1W
RS565546734 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS572757800 Health Risk Conflicting classifications of pathogenicity Congestive heart failure, Dilated cardiomyopathy 1W, Cardiovascular phenotype
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