×
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP
Cardiomyopathies
0.100
CausalMutation
CLINVAR
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
27799064 2016
×
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A
Cardiomyopathies
0.100
GeneticVariation
CLINVAR
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
27640307 2016
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathies
0.100
CausalMutation
CLINVAR
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
23785128 2013
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathies
0.100
CausalMutation
CLINVAR
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
22820313 2012
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathies
0.100
CausalMutation
CLINVAR
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
16432188 2006
×
Entrez Id: 361
Gene Symbol: AQP4
AQP4
Cardiomyopathies
0.100
GeneticVariation
CLINVAR
SLC25A42
Cardiomyopathies
0.100
GeneticVariation
CLINVAR
AQP4-AS1
Cardiomyopathies
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
Cardiomyopathies
0.100
CausalMutation
CLINVAR
×
Entrez Id: 85366
Gene Symbol: MYLK2
MYLK2
Cardiomyopathies
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 100652770
Gene Symbol: DSG2-AS1
DSG2-AS1
Cardiomyopathies
0.100
GeneticVariation
CLINVAR
RPL36A-HNRNPH2
Cardiomyopathies
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
Cardiomyopathies
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathies
0.100
CausalMutation
CLINVAR
RPL36A-HNRNPH2
Cardiomyopathies
0.100
CausalMutation
CLINVAR
×
Entrez Id: 7386
Gene Symbol: UQCRFS1
UQCRFS1
Cardiomyopathies
0.100
CausalMutation
CLINVAR
×
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
Cardiomyopathies
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
Cardiomyopathies
0.110
CausalMutation
CLINVAR
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
26008905 2015
×
Entrez Id: 54344
Gene Symbol: DPM3
DPM3
Cardiomyopathies
0.110
GeneticVariation
CLINVAR
×
Entrez Id: 57538
Gene Symbol: ALPK3
ALPK3
Cardiomyopathies
0.140
GeneticVariation
CLINVAR
ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.28630369 2017
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathies
0.200
GeneticVariation
CLINVAR
Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.
23183350 2013
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathies
0.200
CausalMutation
CLINVAR
Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations.
20041886 2010
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathies
0.200
CausalMutation
CLINVAR
Post-mortem findings in familial partial lipodystrophy, Dunnigan variety.
12647844 2002
×
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
Cardiomyopathies
0.200
CausalMutation
CLINVAR
Novel genetic defects in the LMNA gene in two families with the Dunnigan variety of familial partial lipodystrophy, cardiac conduction system defects, and other manifestations related to cardiomyopathy suggest the occurrence of a multisystem dystrophy syndrome due to LMNA mutations.
12015247 2002
×
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
Cardiomyopathies
0.200
GeneticVariation
CLINVAR