Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913630
rs121913630
0.740 GeneticVariation BEFREE Hypertrophic cardiomyopathy <i>MYH7</i>-mutation R723G alters mRNA secondary structure. 31790337

2020

dbSNP: rs121913630
rs121913630
0.740 GeneticVariation BEFREE Successful knock-in of Hypertrophic Cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs. 29555974

2018

dbSNP: rs121913630
rs121913630
A 0.740 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs121913630
rs121913630
C 0.740 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs121913630
rs121913630
A 0.740 CausalMutation CLINVAR Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. 23074333

2012

dbSNP: rs121913630
rs121913630
C 0.740 CausalMutation CLINVAR Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy. 21769673

2011

dbSNP: rs121913630
rs121913630
A 0.740 CausalMutation CLINVAR Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. 21835320

2011

dbSNP: rs121913630
rs121913630
A 0.740 CausalMutation CLINVAR Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. 20359594

2010

dbSNP: rs121913630
rs121913630
C 0.740 CausalMutation CLINVAR The left and right ventricle of a patient with a R723G mutation of the beta-myosin heavy chain and severe hypertrophic cardiomyopathy show no differences in the expression of myosin mRNA. 20865685

2010

dbSNP: rs121913630
rs121913630
0.740 GeneticVariation BEFREE The results showed that: Val606Met is an intermediate malignancy mutation; Arg694Leu is a novel mutation with a benign phenotype; and the Arg723Gly mutation is linked to malignancy - it can lead not only to HCM but also to dilated cardiomyopathy at various ages. 20819418

2010

dbSNP: rs121913630
rs121913630
C 0.740 CausalMutation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014

2009

dbSNP: rs121913630
rs121913630
C 0.740 CausalMutation CLINVAR Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance. 19651039

2009

dbSNP: rs121913630
rs121913630
C 0.740 CausalMutation CLINVAR Quantification of mutant versus wild-type myosin in human muscle biopsies using nano-LC/ESI-MS. 18020371

2007

dbSNP: rs121913630
rs121913630
C 0.740 CausalMutation CLINVAR Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy. 17097032

2006

dbSNP: rs121913630
rs121913630
C 0.740 CausalMutation CLINVAR [Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene in a Chinese pedigree]. 16630450

2006

dbSNP: rs121913630
rs121913630
0.740 GeneticVariation BEFREE The mutation of Arg723Gly in a Chinese family with HCM was detected for the first time. 17097032

2006

dbSNP: rs121913630
rs121913630
A 0.740 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005

dbSNP: rs121913630
rs121913630
C 0.740 CausalMutation CLINVAR Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells. 15550524

2005

dbSNP: rs121913630
rs121913630
A 0.740 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003

dbSNP: rs121913630
rs121913630
C 0.740 CausalMutation CLINVAR Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene. 11113006

2000

dbSNP: rs121913630
rs121913630
A 0.740 CausalMutation CLINVAR Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. 9829907

1998

dbSNP: rs121913630
rs121913630
A 0.740 CausalMutation CLINVAR Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. 7731997

1995

dbSNP: rs121913630
rs121913630
A 0.740 CausalMutation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992