FLNC Chromosome 7

Filamin C
902 variants 902 Health Risk

Upload your DNA to see your personal genotypes for variants in FLNC.

What This Gene Does
This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Mutations in this gene are a cause of cardiopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2022]
Gene Info
Gene Group
Filamin family
Locus Type
gene with protein product
Location
7q32.1
Ensembl
ENSG00000128591
Associated Conditions (39)
Cardiovascular phenotype
Hypertrophic cardiomyopathy 26
Myofibrillar myopathy 5
Distal myopathy with posterior leg and anterior hand involvement
Cardiomyopathy
FLNC-related disorder
Primary familial hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Dilated Cardiomyopathy
Dominant
Sarcoma
Cervical cancer
Lung cancer
Clear cell carcinoma of kidney
Arrhythmogenic right ventricular dysplasia
familial
15
Primary familial dilated cardiomyopathy
Primary dilated cardiomyopathy
Malignant tumor of esophagus
+19 more conditions
Key Variants
RS1019973830
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
Health Risk
RS1022106059
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
Health Risk
RS10268251
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Cardiomyopathy, FLNC-related disorder
Health Risk
RS1031265089
Conflicting classifications of pathogenicity
Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
Health Risk
RS1032003580
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
Health Risk
RS1034483511
Conflicting classifications of pathogenicity
Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
Health Risk
RS1041643602
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
Health Risk
RS1046022647
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
Health Risk
RS1046320257
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
Health Risk
RS1052000080
Conflicting classifications of pathogenicity
Cardiomyopathy, FLNC-related disorder, Distal myopathy with posterior leg and anterior hand involvement
Health Risk
RS1057523921
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
Health Risk
RS1063262
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
Health Risk
All Variants (902)
RSID Category Clinical Significance Conditions
RS759452636 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy 26
RS759597112 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS759632330 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS759739899 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS760158891 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS760407609 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS761216494 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS761342219 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS761352737 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS761696270 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS761793156 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS761881020 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS761905908 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS762017885 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS762051422 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS762680314 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS763039506 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS763330423 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy, Distal myopathy with posterior leg and anterior hand involvement
RS763551371 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS763590899 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS763901270 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS763930207 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS764326184 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS764452839 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS764876916 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS764877771 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS764991202 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS765122668 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS765173966 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy, Myofibrillar myopathy 5
RS765301554 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS765388755 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS765435961 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Dilated Cardiomyopathy, Dominant
RS765438770 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder, Distal myopathy with posterior leg and anterior hand involvement
RS766023596 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder, Myofibrillar myopathy 5
RS766127245 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS766196208 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS766580034 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS766592492 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS766612482 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS766740877 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS766755439 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS766999669 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS767279710 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, FLNC-related disorder
RS767436158 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS767576240 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS767740333 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS767794768 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Cardiovascular phenotype, Myofibrillar myopathy 5
RS767820058 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS768103657 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS768329311 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
« Prev 1 ... 5 6 7 8 9 10 11 ... 19 Next »
Sign Up to Analyze Your DNA Log In