rs387906586
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
MYOPATHY, DISTAL, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
|
21620354 |
2011 |
rs387906587
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
MYOPATHY, DISTAL, 4
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
|
21620354 |
2011 |
rs387906586
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
MYOPATHY, DISTAL, 4
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs387906587
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
MYOPATHY, DISTAL, 4
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1382734231
|
FLNC;FLNC-AS1
|
Restrictive cardiomyopathy
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.
|
30260051 |
2018 |
rs1563005534
|
FLNC;FLNC-AS1
|
Restrictive cardiomyopathy
|
G |
0.700 |
CausalMutation |
CLINVAR |
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy.
|
30260051 |
2018 |
rs112903432
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs112903432
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
MYOPATHY, DISTAL, 4
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs112903432
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
Filaminopathy, autosomal dominant
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1446694237
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
Filaminopathy, autosomal dominant
|
T |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1446694237
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
|
T |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1446694237
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
MYOPATHY, DISTAL, 4
|
T |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1554399513
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
Filaminopathy, autosomal dominant
|
CACCT |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1554399513
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
MYOPATHY, DISTAL, 4
|
CACCT |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1554399513
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
|
CACCT |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1554400021
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
MYOPATHY, DISTAL, 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1554400021
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
Filaminopathy, autosomal dominant
|
A |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1554400021
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
|
A |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1554401581
|
FLNC;FLNC-AS1
|
MYOPATHY, DISTAL, 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1554401581
|
FLNC;FLNC-AS1
|
Filaminopathy, autosomal dominant
|
A |
0.700 |
CausalMutation |
CLINVAR |
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
|
28008423 |
2016 |
rs1554401581
|
FLNC;FLNC-AS1
|
MYOPATHY, DISTAL, 4
|
A |
0.700 |
CausalMutation |
CLINVAR |
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
|
28008423 |
2016 |
rs1554401581
|
FLNC;FLNC-AS1
|
Filaminopathy, autosomal dominant
|
A |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1554401581
|
FLNC;FLNC-AS1
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
|
A |
0.700 |
CausalMutation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |
rs1554401581
|
FLNC;FLNC-AS1
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
|
A |
0.700 |
CausalMutation |
CLINVAR |
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy.
|
28008423 |
2016 |
rs1562991776
|
Entrez Id: |
2318 |
Gene Symbol: |
FLNC |
FLNC
|
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
|
27908349 |
2016 |