Gene: MYH7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566537070
rs1566537070
MYH7
T 0.700 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs1566537070
rs1566537070
MYH7
T 0.700 GeneticVariation CLINVAR Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy. 22765922

2012
dbSNP: rs1566537070
rs1566537070
MYH7
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. 24510615

2014
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. 28771489

2017
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876

2011
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR Shared genetic causes of cardiac hypertrophy in children and adults. 18403758

2008
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics. 23785128

2013
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. 21310275

2011
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs193922390
rs193922390
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation. 25078086

2014
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337

2014
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Identification of Medically Actionable Secondary Findings in the 1000 Genomes. 26332594

2015
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. 21835320

2011
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. 18533079

2008
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). 30297972

2018
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. 20359594

2010
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Population-based variation in cardiomyopathy genes. 22763267

2012
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 29121657

2017
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. 16858239

2006
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Good Intentions Gone Bad. 31112422

2019