Gene: MYH7 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs267606910
rs267606910
MYH7
T 0.800 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs2754158
rs2754158
MYH7
A 0.800 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs3218713
rs3218713
MYH7
T 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516161
rs397516161
MYH7
C 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727503260
rs727503260
MYH7
T 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs727503261
rs727503261
MYH7
G 0.800 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. 27082122

2016
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs267606910
rs267606910
MYH7
T 0.800 GeneticVariation CLINVAR Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. 27788187

2016
dbSNP: rs267606910
rs267606910
MYH7
T 0.800 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs267606910
rs267606910
MYH7
T 0.800 GeneticVariation CLINVAR The pathogenicity of genetic variants previously associated with left ventricular non-compaction. 27066506

2016
dbSNP: rs2754158
rs2754158
MYH7
A 0.800 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs3218713
rs3218713
MYH7
T 0.800 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs727503260
rs727503260
MYH7
T 0.800 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs727503261
rs727503261
MYH7
G 0.800 CausalMutation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs727504238
rs727504238
MYH7
C 0.800 GeneticVariation CLINVAR Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. 27247418

2016
dbSNP: rs121913624
rs121913624
MYH7
T 0.800 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs121913637
rs121913637
MYH7
A 0.800 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs121913641
rs121913641
MYH7
G 0.800 GeneticVariation CLINVAR Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. 25935763

2015
dbSNP: rs2754158
rs2754158
MYH7
A 0.800 GeneticVariation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685

2015
dbSNP: rs2754158
rs2754158
MYH7
A 0.800 GeneticVariation CLINVAR Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan. 25086479

2015
dbSNP: rs2754158
rs2754158
MYH7
A 0.800 GeneticVariation 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