FLNC Chromosome 7

Filamin C
902 variants 902 Health Risk

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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
RS768635501 Health Risk Conflicting classifications of pathogenicity Dilated Cardiomyopathy, Dominant, Myofibrillar myopathy 5
RS768737324 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS768767784 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS768894698 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS768941858 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS769106207 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS769221710 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS769243979 Health Risk Conflicting classifications of pathogenicity FLNC-related disorder, Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS769298304 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS769574342 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS769586047 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS769624093 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS770264114 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS770692923 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS770796119 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS770861991 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS771676134 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Dilated Cardiomyopathy, Dominant
RS771715893 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS771749289 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS772127988 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS772477251 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS772574007 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS772580545 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype, Myofibrillar myopathy 5
RS772588219 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS772697482 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS773165378 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS773481064 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS773716930 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS774194364 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS774263134 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS774458113 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS774707336 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS774715089 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS774743325 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS775049569 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder, Distal myopathy with posterior leg and anterior hand involvement
RS775085661 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS775383465 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS775496136 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder, Myofibrillar myopathy 5
RS775518895 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS775538827 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS775727204 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS775910704 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS776469396 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS776682674 Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS776699786 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS776881635 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS777028481 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS777337698 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS777492254 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS777798089 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
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