Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy. 28615295

2017
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Uncomplicated Pregnancy in a Patient Treated With Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy. 28024942

2017
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study. 27737317

2016
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection. 26671970

2015
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. 24704860

2014
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304

2014
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304

2014
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR Interpreting secondary cardiac disease variants in an exome cohort. 23861362

2013
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy. 24093860

2013
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983

2013
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948

2012
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 22857948

2012
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. 21239446

2011
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. 21239446

2011
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. 20624503

2011
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 CausalMutation CLINVAR The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. 20019025

2010
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. 20019025

2010
dbSNP: rs200411226
rs200411226
MYBPC3
T 0.700 GeneticVariation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008