rs1393297693
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs1800629
|
|
|
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 |
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 |
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 |
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 |
rs200484060
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Carriers of DSG2p.F531C showed various phenotypes, such as ARVC/D, SCD, MVT and dilated cardiomyopathy.
|
30129429 |
2018 |
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 |
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 |
rs1298494952
|
|
|
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 |
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 |
rs397516695
|
|
|
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 |
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 |
rs145734640
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.
|
25666907 |
2015 |
rs63750743
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We excluded TMEM43-p.S358L in 22 unrelated patients with dilated cardiomyopathy.
|
24598986 |
2015 |
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 |
rs1368507241
|
|
|
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 |
rs138592977
|
|
|
0.010 |
GeneticVariation |
BEFREE |
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
|
22999724 |
2012 |
rs41261344
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Long QT syndrome and dilated cardiomyopathy with SCN5A p.R1193Q polymorphism: cardioverter-defibrillator implantation at 27 months.
|
22519808 |
2012 |