Gene: MYH7 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730880750
rs730880750
MYH7
0.010 GeneticVariation BEFREE Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy. 10900182

2000
dbSNP: rs202141173
rs202141173
MYH7
T 0.700 GeneticVariation CLINVAR Good Intentions Gone Bad. 31112422

2019
dbSNP: rs397516088
rs397516088
MYH7
T 0.700 CausalMutation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019
dbSNP: rs397516088
rs397516088
MYH7
T 0.700 CausalMutation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019
dbSNP: rs397516127
rs397516127
MYH7
A 0.700 CausalMutation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019
dbSNP: rs121913626
rs121913626
MYH7
T 0.700 CausalMutation CLINVAR Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup. 28640247

2018
dbSNP: rs138049878
rs138049878
MYH7
A 0.700 GeneticVariation CLINVAR Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. 30022097

2018
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: rs727504311
rs727504311
MYH7
C 0.700 CausalMutation CLINVAR Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells. 30623132

2018
dbSNP: rs1057517773
rs1057517773
MYH7
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1060501443
rs1060501443
MYH7
G 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1060501448
rs1060501448
MYH7
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1131691685
rs1131691685
MYH7
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913626
rs121913626
MYH7
T 0.700 CausalMutation CLINVAR Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. 28611029

2017
dbSNP: rs121913628
rs121913628
MYH7
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913631
rs121913631
MYH7
C 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913632
rs121913632
MYH7
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913633
rs121913633
MYH7
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913637
rs121913637
MYH7
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913638
rs121913638
MYH7
T 0.700 CausalMutation CLINVAR Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain. 27161882

2017
dbSNP: rs121913642
rs121913642
MYH7
G 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs121913650
rs121913650
MYH7 ; MHRT
A 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1224554825
rs1224554825
MYH7
T 0.700 CausalMutation CLINVAR A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction. 28855170

2017
dbSNP: rs1224554825
rs1224554825
MYH7
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017