Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. 25132132

2014
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 15698845

2005
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. 22876777

2012
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680

2012
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy. 21799269

2011
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205

2000
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. 16352453

2006
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392

2004
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Genetic basis of end-stage hypertrophic cardiomyopathy. 21896538

2011
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277

1997
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Functional consequences of the six mutations (R145G, R145Q, R162W, DeltaK183, G203S, K206Q) in cardiac troponin I (cTnI) that cause familial hypertrophic cardiomyopathy (HCM) were studied using purified recombinant human cTnI. 11735257

2001
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. 28356264

2017
dbSNP: rs368861241
rs368861241
TNNI3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.720 GeneticVariation CLINVAR Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China. 15992656

2005
dbSNP: rs727504245
rs727504245
TNNT2
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.710 GeneticVariation CLINVAR

dbSNP: rs371898076
rs371898076
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 0.710 GeneticVariation CLINVAR

dbSNP: rs121913630
rs121913630
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.710 GeneticVariation CLINVAR Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. 1430197

1992
dbSNP: rs121913630
rs121913630
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.710 GeneticVariation CLINVAR Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. 20359594

2010
dbSNP: rs869025501
rs869025501
RAF1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 0.700 GeneticVariation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007
dbSNP: rs869025485
rs869025485
MYL3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs869025477
rs869025477
MYH7
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		A 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: rs869025470
rs869025470
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs869025469
rs869025469
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs869025468
rs869025468
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		GC 0.700 GeneticVariation CLINVAR

dbSNP: rs869025467
rs869025467
MYBPC3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		G 0.700 GeneticVariation CLINVAR