Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1294950721
rs1294950721
JAG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554401403
rs1554401403
FLNC ; FLNC-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727503269
rs727503269
MYH7
C 0.700 CausalMutation CLINVAR

dbSNP: rs730880231
rs730880231
TNNI3
G 0.700 CausalMutation CLINVAR

dbSNP: rs397516153
rs397516153
MYH7
A 0.700 CausalMutation CLINVAR A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. 18380764

2008
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation. 20394946

2010
dbSNP: rs727503513
rs727503513
TNNT2
A 0.700 GeneticVariation CLINVAR A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. 10525521

1999
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice. 17027633

2006
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease. 20161772

2010
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. 23690394

2013
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 22260945

2012
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010
dbSNP: rs727503499
rs727503499
TNNI3
A 0.700 CausalMutation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010
dbSNP: rs369634007
rs369634007
TMEM87B
G 0.700 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533

2012
dbSNP: rs104894724
rs104894724
TNNI3
0.020 GeneticVariation BEFREE Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice. 19651143

2009
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. 19449150

2009
dbSNP: rs121918312
rs121918312
BAG3
0.020 GeneticVariation BEFREE Genetic testing demonstrated heterozygous mutation Pro209Leu (c.626C > T) in exon 3 of BAG3 gene causing severe myopathy and neuropathy, often associated with restrictive cardiomyopathy. 26545904

2015
dbSNP: rs1114167361
rs1114167361
FLNC
0.010 GeneticVariation BEFREE Here, we report a new clinical phenotype of filaminopathy in four unrelated patients with early-onset restrictive cardiomyopathy (RCM) in combination with congenital myopathy due to FLNC mutations (NM_001458.4:c.3557C>T, p.A1186V, rs1114167361 in three probands and c.[3547G>C; 3548C>T], p.A1183L, rs1131692185 in one proband). 29858533

2018
dbSNP: rs1131692185
rs1131692185
FLNC
0.010 GeneticVariation BEFREE Here, we report a new clinical phenotype of filaminopathy in four unrelated patients with early-onset restrictive cardiomyopathy (RCM) in combination with congenital myopathy due to FLNC mutations (NM_001458.4:c.3557C>T, p.A1186V, rs1114167361 in three probands and c.[3547G>C; 3548C>T], p.A1183L, rs1131692185 in one proband). 29858533

2018
dbSNP: rs727503260
rs727503260
MYH7
T 0.700 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. 12531876

2003
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI. 18408133

2008
dbSNP: rs104894729
rs104894729
TNNI3
T 0.710 CausalMutation CLINVAR Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. 16531415

2006