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
RS748829335 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS748919727 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS749076427 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS749235580 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS749380628 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS749593461 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS749889670 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS750254727 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS750686083 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS750856173 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS750881912 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS751019991 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS751236317 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS751592993 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS752027721 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS752159793 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS752476855 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS752667511 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS752728262 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS752850659 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS752919962 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS753022721 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS753591663 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS753945728 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS754076573 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS754097557 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS754309921 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS754331955 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS754646406 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS754750752 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder, Myofibrillar myopathy 5
RS755425307 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS755896041 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS755896234 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS756197388 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS756345989 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS756353876 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS756546984 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS756710545 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS756723697 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS757110783 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS757219498 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS757482925 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype, Myofibrillar myopathy 5
RS757969015 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS758002964 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS758080422 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS758216356 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS758220780 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS758342140 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS759075520 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS759376455 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Cardiovascular phenotype, Myofibrillar myopathy 5
« Prev 1 ... 4 5 6 7 8 9 10 ... 19 Next »
Sign Up to Analyze Your DNA Log In