Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1393297693
rs1393297693
SRF
0.010 GeneticVariation BEFREE We recently identified a novel, heterozygous, and non-synonymous ACTC1 mutation (p.Gly247Asp or G247D) in a large, multi-generational family, causing atrial-septal defect followed by late-onset dilated cardiomyopathy (DCM). 31434612

2019

dbSNP: rs1407369744
rs1407369744
0.010 GeneticVariation BEFREE Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia. 30630173

2019

dbSNP: rs199476301
rs199476301
0.010 GeneticVariation BEFREE Point mutations M8R and K15N in the N-terminal part of the junction and the A277V one in the C-terminal part are associated with dilated cardiomyopathy, while the M281T and I284V mutations are related to hypertrophic cardiomyopathy. 30240712

2019

dbSNP: rs199476320
rs199476320
0.010 GeneticVariation BEFREE Point mutations M8R and K15N in the N-terminal part of the junction and the A277V one in the C-terminal part are associated with dilated cardiomyopathy, while the M281T and I284V mutations are related to hypertrophic cardiomyopathy. 30240712

2019

dbSNP: rs551837344
rs551837344
0.010 GeneticVariation BEFREE A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathy. 30276801

2019

dbSNP: rs746503158
rs746503158
0.010 GeneticVariation BEFREE We recently identified a novel, heterozygous, and non-synonymous ACTC1 mutation (p.Gly247Asp or G247D) in a large, multi-generational family, causing atrial-septal defect followed by late-onset dilated cardiomyopathy (DCM). 31434612

2019

dbSNP: rs794729145
rs794729145
0.010 GeneticVariation BEFREE Clinical exome sequencing revealed I536T-RBM20 variant, which alters RNA splicing of TTN and is causative for dilated cardiomyopathy. 31419596

2019

dbSNP: rs1332805343
rs1332805343
0.010 GeneticVariation BEFREE Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy. 29071820

2018

dbSNP: rs1800629
rs1800629
TNF
0.010 GeneticVariation BEFREE Association between rs1800629 polymorphism in tumor necrosis factor-α gene and dilated cardiomyopathy susceptibility: Evidence from case-control studies. 30557992

2018

dbSNP: rs1805124
rs1805124
0.010 GeneticVariation BEFREE We examined the possible association between a common polymorphism in the SCN5A gene (c.1673A>G-p.H558R; rs1805124) and the risk of dilated cardiomyopathy (DCM) occurrence. 29782370

2018

dbSNP: rs199473000
rs199473000
0.010 GeneticVariation BEFREE Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy. 29071820

2018

dbSNP: rs199473076
rs199473076
0.010 GeneticVariation BEFREE Another patient who developed dilated cardiomyopathy with prolonged QTc interval was found to carry a likely pathogenic variant, TAZ c.718G>A, associated with infantile dilated cardiomyopathy. 29071820

2018

dbSNP: rs200484060
rs200484060
0.010 GeneticVariation BEFREE Carriers of DSG2p.F531C showed various phenotypes, such as ARVC/D, SCD, MVT and dilated cardiomyopathy. 30129429

2018

dbSNP: rs754428169
rs754428169
0.010 GeneticVariation BEFREE Additional rare TJP1 variants have been identified in 1 of 40 Italian probands (c.793C>T p.(R265W)) with arrhythmogenic right ventricular cardiomyopathy and in 2 of 43 Dutch/German patients (c. 986C>T, p.(S329L) and c.1079A>T, p.(D360V)) with dilated cardiomyopathy and recurrent ventricular tachycardia. 30354300

2018

dbSNP: rs104894942
rs104894942
0.010 GeneticVariation BEFREE Patient with c.280C>T mutation had dilated cardiomyopathy, while another patient with c.39_60del mutation had no feature of cardiomyopathy. 28123175

2017

dbSNP: rs1298494952
rs1298494952
TTN
0.010 GeneticVariation BEFREE A mutation in the gene encoding Lamin A/C (LMNA<sub>p.R331Q</sub> ) led to reduced maximal force development through secondary disease remodelling in patients suffering from dilated cardiomyopathy. 28436080

2017

dbSNP: rs150821281
rs150821281
0.010 GeneticVariation BEFREE A rare genetic variant in the desmosomal gene plakophilin-2 (PKP2) c.419C>T(p.(S140F)) has repeatedly been identified in patients with dilated cardiomyopathy (DCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC). 26264440

2016

dbSNP: rs397516695
rs397516695
DES
0.010 GeneticVariation BEFREE Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect. 26724190

2016

dbSNP: rs1266360671
rs1266360671
0.010 GeneticVariation BEFREE In this study, we identified a novel PLN mutation (R25C) in dilated cardiomyopathy (DCM) and investigated its functional significance in cardiomyocyte Ca(2+)-handling and contractility. 25852082

2015

dbSNP: rs145734640
rs145734640
0.010 GeneticVariation BEFREE Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy. 25666907

2015

dbSNP: rs63750743
rs63750743
0.010 GeneticVariation BEFREE We excluded TMEM43-p.S358L in 22 unrelated patients with dilated cardiomyopathy. 24598986

2015

dbSNP: rs761056344
rs761056344
0.010 GeneticVariation BEFREE In this study, we identified a novel PLN mutation (R25C) in dilated cardiomyopathy (DCM) and investigated its functional significance in cardiomyocyte Ca(2+)-handling and contractility. 25852082

2015

dbSNP: rs1368507241
rs1368507241
DES
0.010 GeneticVariation BEFREE In this paper, we report a novel heterozygous mutation of A285V codon conversion on exon 4 of the desmin (DES), using whole exome sequencing (WES) in an isolated proband with documented dilated cardiomyopathy (DCM). 23300193

2013

dbSNP: rs138592977
rs138592977
0.010 GeneticVariation BEFREE R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy. 22999724

2012

dbSNP: rs41261344
rs41261344
0.010 GeneticVariation BEFREE Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months. 22519808

2012