FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906586
rs387906586
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C3279722
Disease:
MYOPATHY, DISTAL, 4 		0.800 GeneticVariation UNIPROT Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. 21620354 2011
dbSNP: rs387906587
rs387906587
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C3279722
Disease:
MYOPATHY, DISTAL, 4 		0.800 GeneticVariation UNIPROT Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. 21620354 2011
dbSNP: rs387906586
rs387906586
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C3279722
Disease:
MYOPATHY, DISTAL, 4 		C 0.800 CausalMutation CLINVAR
dbSNP: rs387906587
rs387906587
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C3279722
Disease:
MYOPATHY, DISTAL, 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1382734231
rs1382734231
Entrez Id: 2318;110806300
Gene Symbol: FLNC;FLNC-AS1
FLNC;FLNC-AS1
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		T 0.700 CausalMutation CLINVAR Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy. 30260051 2018
dbSNP: rs1563005534
rs1563005534
Entrez Id: 2318;110806300
Gene Symbol: FLNC;FLNC-AS1
FLNC;FLNC-AS1
CUI: C0007196
Disease:
Restrictive cardiomyopathy 		G 0.700 CausalMutation CLINVAR Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy. 30260051 2018
dbSNP: rs112903432
rs112903432
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C4310749
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		C 0.700 GeneticVariation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs112903432
rs112903432
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C3279722
Disease:
MYOPATHY, DISTAL, 4 		C 0.700 GeneticVariation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs112903432
rs112903432
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C1836050
Disease:
Filaminopathy, autosomal dominant 		C 0.700 GeneticVariation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1446694237
rs1446694237
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C1836050
Disease:
Filaminopathy, autosomal dominant 		T 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1446694237
rs1446694237
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C4310749
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		T 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1446694237
rs1446694237
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C3279722
Disease:
MYOPATHY, DISTAL, 4 		T 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1554399513
rs1554399513
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C1836050
Disease:
Filaminopathy, autosomal dominant 		CACCT 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1554399513
rs1554399513
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C3279722
Disease:
MYOPATHY, DISTAL, 4 		CACCT 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1554399513
rs1554399513
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C4310749
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		CACCT 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1554400021
rs1554400021
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C3279722
Disease:
MYOPATHY, DISTAL, 4 		A 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1554400021
rs1554400021
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C1836050
Disease:
Filaminopathy, autosomal dominant 		A 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1554400021
rs1554400021
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C4310749
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		A 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1554401581
rs1554401581
Entrez Id: 2318;110806300
Gene Symbol: FLNC;FLNC-AS1
FLNC;FLNC-AS1
CUI: C3279722
Disease:
MYOPATHY, DISTAL, 4 		A 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1554401581
rs1554401581
Entrez Id: 2318;110806300
Gene Symbol: FLNC;FLNC-AS1
FLNC;FLNC-AS1
CUI: C1836050
Disease:
Filaminopathy, autosomal dominant 		A 0.700 CausalMutation CLINVAR FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. 28008423 2016
dbSNP: rs1554401581
rs1554401581
Entrez Id: 2318;110806300
Gene Symbol: FLNC;FLNC-AS1
FLNC;FLNC-AS1
CUI: C3279722
Disease:
MYOPATHY, DISTAL, 4 		A 0.700 CausalMutation CLINVAR FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. 28008423 2016
dbSNP: rs1554401581
rs1554401581
Entrez Id: 2318;110806300
Gene Symbol: FLNC;FLNC-AS1
FLNC;FLNC-AS1
CUI: C1836050
Disease:
Filaminopathy, autosomal dominant 		A 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1554401581
rs1554401581
Entrez Id: 2318;110806300
Gene Symbol: FLNC;FLNC-AS1
FLNC;FLNC-AS1
CUI: C4310749
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		A 0.700 CausalMutation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
dbSNP: rs1554401581
rs1554401581
Entrez Id: 2318;110806300
Gene Symbol: FLNC;FLNC-AS1
FLNC;FLNC-AS1
CUI: C4310749
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		A 0.700 CausalMutation CLINVAR FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. 28008423 2016
dbSNP: rs1562991776
rs1562991776
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
CUI: C4310749
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		A 0.700 GeneticVariation CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016