Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76992529
rs76992529
TTR
A 0.780 CausalMutation CLINVAR

dbSNP: rs786205436
rs786205436
SDHD
G 0.710 CausalMutation CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905

2015
dbSNP: rs56793579
rs56793579
LMNA
G 0.710 CausalMutation CLINVAR On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of congestive heart failure, dilated cardiomyopathy and conduction system disturbances. 20041886

2010
dbSNP: rs56793579
rs56793579
LMNA
G 0.710 CausalMutation CLINVAR Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. 12015247

2002
dbSNP: rs56793579
rs56793579
LMNA
G 0.710 CausalMutation CLINVAR Post-mortem findings in familial partial lipodystrophy, Dunnigan variety. 12647844

2002
dbSNP: rs397516373
rs397516373
TPM1
A 0.700 CausalMutation CLINVAR Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation. 29024827

2018
dbSNP: rs397516373
rs397516373
TPM1
A 0.700 CausalMutation CLINVAR Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy. 29517769

2018
dbSNP: rs397516373
rs397516373
TPM1
A 0.700 CausalMutation CLINVAR Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. 28359939

2017
dbSNP: rs397516373
rs397516373
TPM1
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs769139957
rs769139957
ALPK3
A 0.700 GeneticVariation CLINVAR ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features. 28630369

2017
dbSNP: rs1057517686
rs1057517686
ATAD3A
T 0.700 GeneticVariation CLINVAR Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. 27640307

2016
dbSNP: rs114638163
rs114638163
MIPEP
A 0.700 CausalMutation CLINVAR MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. 27799064

2016
dbSNP: rs121912998
rs121912998
DSP ; LOC101928076
A 0.700 CausalMutation CLINVAR Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. 27435932

2016
dbSNP: rs397516373
rs397516373
TPM1
A 0.700 CausalMutation CLINVAR Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation. 27177193

2016
dbSNP: rs267606976
rs267606976
PRKAG2
G 0.700 GeneticVariation CLINVAR Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish. 23992123

2014
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
T 0.700 CausalMutation CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128

2013
dbSNP: rs869125101
rs869125101
LMNA
A 0.700 GeneticVariation CLINVAR Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers. 23183350

2013
dbSNP: rs1024095026
rs1024095026
ABCC9
A 0.700 GeneticVariation CLINVAR Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. 23103869

2012
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
T 0.700 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
dbSNP: rs730880092
rs730880092
DSP
G 0.700 GeneticVariation CLINVAR Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities. 19924139

2010
dbSNP: rs397516784
rs397516784
PLN ; CEP85L
T 0.700 CausalMutation CLINVAR A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. 16432188

2006
dbSNP: rs267606976
rs267606976
PRKAG2
G 0.700 GeneticVariation CLINVAR Glycogen storage diseases presenting as hypertrophic cardiomyopathy. 15673802

2005
dbSNP: rs104894727
rs104894727
TNNI3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518905
rs1057518905
DPM3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519457
rs1057519457
SCN1B
T 0.700 CausalMutation CLINVAR