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
RS777939926 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS778021239 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS778781499 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder, Myofibrillar myopathy 5
RS779029827 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS779079128 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Cardiovascular phenotype
RS779184516 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS779856224 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS780098760 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS780461379 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS780486915 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS780658670 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS780685346 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS780829334 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype, Myofibrillar myopathy 5
RS781127889 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS781718076 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS781760817 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS867032077 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS868744958 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS886037829 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS886043826 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS891651799 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS912926530 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS923795184 Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS954890424 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS965901086 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS986826850 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS993836469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS111324750 Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS111452612 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS111477195 Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS111806457 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy 26
RS112941619 Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1131692185 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS1175359759 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS1274340353 Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1318885805 Health Risk Likely pathogenic Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1345953797 Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1346981294 Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1392170803 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS1404524040 Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26
RS1427917546 Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26, Myofibrillar myopathy 5
RS1465588989 Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1474115309 Health Risk Likely pathogenic Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1554398705 Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1562991776 Health Risk Likely pathogenic Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS1562995883 Health Risk Likely pathogenic —
RS1585151245 Health Risk Likely pathogenic —
RS1585157354 Health Risk Likely pathogenic Cardiovascular phenotype, Gastric cancer, Myofibrillar myopathy 5
RS1585169973 Health Risk Likely pathogenic Myofibrillar myopathy 5, Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1585171818 Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
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