Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36211715
rs36211715
0.810 CausalMutation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018

dbSNP: rs371898076
rs371898076
0.810 CausalMutation CLINVAR Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. 29300372

2018

dbSNP: rs3218713
rs3218713
0.810 CausalMutation CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223

2017

dbSNP: rs3218713
rs3218713
0.810 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2017

dbSNP: rs3218713
rs3218713
0.810 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs371898076
rs371898076
0.810 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs3218713
rs3218713
0.810 CausalMutation CLINVAR Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing. 24298987

2014

dbSNP: rs3218713
rs3218713
0.810 GeneticVariation BEFREE Whole exome sequencing analysis revealed a R249Q-MYH7 mutation associated previously with familial hypertrophic cardiomyopathy, sudden death, and impaired β-myosin heavy chain (MHC-β) actin-translocating and actin-activated ATPase (adenosine triphosphatase) activity. 24298987

2014

dbSNP: rs3218713
rs3218713
0.810 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs3218713
rs3218713
0.810 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322

2013

dbSNP: rs36211715
rs36211715
0.810 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013

dbSNP: rs36211715
rs36211715
0.810 CausalMutation CLINVAR Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. 23074333

2013

dbSNP: rs36211715
rs36211715
0.810 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs36211715
rs36211715
0.810 CausalMutation CLINVAR Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy. 23816408

2013

dbSNP: rs371898076
rs371898076
0.810 CausalMutation CLINVAR Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells. 23290139

2013

dbSNP: rs371898076
rs371898076
0.810 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745

2013

dbSNP: rs371898076
rs371898076
0.810 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs371898076
rs371898076
0.810 GeneticVariation BEFREE To elucidate the mechanisms underlying HCM development, we generated patient-specific induced pluripotent stem cell cardiomyocytes (iPSC-CMs) from a ten-member family cohort carrying a hereditary HCM missense mutation (Arg663His) in the MYH7 gene. 23290139

2013

dbSNP: rs36211715
rs36211715
0.810 CausalMutation CLINVAR Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein. 21674835

2012

dbSNP: rs36211715
rs36211715
0.810 CausalMutation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012

dbSNP: rs36211715
rs36211715
0.810 CausalMutation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011

dbSNP: rs36211715
rs36211715
0.810 CausalMutation CLINVAR [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy]. 19150014

2009

dbSNP: rs3218713
rs3218713
0.810 GeneticVariation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213

2008

dbSNP: rs36211715
rs36211715
0.810 GeneticVariation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213

2008

dbSNP: rs371898076
rs371898076
0.810 GeneticVariation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213

2008