|
rs104894724
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.730 |
CausalMutation
|
CLINVAR |
Genetics of hypertrophic cardiomyopathy in Norway.
|
24111713 |
2014 |
|
rs368861241
|
|
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 |
|
rs368861241
|
|
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 |
|
rs368861241
|
|
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 |
|
rs368861241
|
|
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 |
|
rs368861241
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy.
|
21799269 |
2011 |
|
rs368861241
|
|
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 |
|
rs368861241
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
|
10806205 |
2000 |
|
rs368861241
|
|
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 |
|
rs368861241
|
|
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 |
|
rs368861241
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Genetic basis of end-stage hypertrophic cardiomyopathy.
|
21896538 |
2011 |
|
rs368861241
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
|
9241277 |
1997 |
|
rs368861241
|
|
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 |
|
rs368861241
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.
|
28356264 |
2017 |
|
rs368861241
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.720 |
GeneticVariation
|
CLINVAR |
Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China.
|
15992656 |
2005 |
|
rs727504245
|
|
Cardiomyopathy, Hypertrophic, Familial
|
A |
0.710 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs371898076
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.
|
23233322 |
2013 |
|
rs371898076
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.
|
22112859 |
2012 |
|
rs371898076
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
|
11133230 |
2001 |
|
rs371898076
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.
|
20800588 |
2010 |
|
rs371898076
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs371898076
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.
|
10750581 |
1999 |
|
rs371898076
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
|
12820698 |
2003 |
|
rs371898076
|
|
Cardiomyopathy, Hypertrophic, Familial
|
T |
0.710 |
CausalMutation
|
CLINVAR |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.
|
26914223 |
2016 |
|
rs371898076
|
|
Cardiomyopathy, Hypertrophic, Familial
|
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 |