Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy. 20309391

2010

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy. 20800588

2010

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188

2008

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy. 18411228

2008

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. 15858117

2005

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542

2005

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. 15358028

2004

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239

2003

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1). 12473556

2002

dbSNP: rs121913641
rs121913641
0.710 GeneticVariation BEFREE Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1). 12473556

2002

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family. 11498078

2001

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events. 10521296

1999

dbSNP: rs121913641
rs121913641
T 0.710 CausalMutation CLINVAR A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy. 7848441

1994